new research on trisomy 13

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StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan-.

StatPearls [Internet].

Marco A. Noriega ; Abu Bakar Siddik .

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Last Update: August 13, 2023 .

Continuing Education Activity

Trisomy 13 is a chromosomal aneuploidy characterized by meiotic nondisjunction. The phenotypic holoprosencephaly and midline fusion aberrancies are related to a defective fusion of the prechordal mesoderm. Patau syndrome has a mortality of over 95%. This activity addresses this condition and provides clinicians with the information to evaluate and manage this condition when it presents.

Identify the etiology and epidemiology of trisomy 13.
Review the factors relating to the prenatal diagnosis of trisomy 13.
Summarize the management options available for trisomy 13.
Describe some interprofessional team strategies for improving care coordination and communication in the diagnosis of trisomy 13.
Introduction

Trisomy 13 is a chromosomal aneuploidy originally described by Patau et al. in 1960. [1] The occurrence of trisomy 13 is 1 in 10,000 to 20,000 live births with antenatal mortality of over 95% of gestations. [2] [3] It can occur as complete, partial, or mosaic expression. [1] The complete trisomy is the most common presentation representing about 80% of all patients. This expression characteristically demonstrates the presence of three chromosomes 13 copies. [1] The partial expression is characterized by a Robertsonian translocation t(13;14), while only 5% of all cases present with mosaicism. [4] Mosaicism is characterized by a percentage of cells remaining trisomic while others maintain euploidy. [1]

Trisomy 13 arises from the nondisjunction of germ cells during meiosis I or II of either parental cells. [5] Nonetheless, maternal germ cell nondisjunction correlated to the increased age of conception contributes to 91% of cases. [3] The mode of inheritance for the complete trisomy 13 is caused by spontaneous interference in meiosis, while vertical inheritance is hereditary in balanced translocations. [5]

Phenotypic findings in trisomy 13 are associated with patterns of congenital anomalies and mental disabilities incompatible with life. [5] The embryological defects in trisomy 13 develop in the absence of fusion of prechordal mesoderm, which phenotypically presents as midline defects. These midline defects are associated with aberrant SHH genes. [6] Despite the accelerated mortality of trisomy 13, it remains clinically significant due to its variable expressivity in patients with compatible mosaicisms. [1]

Trisomy 13 results from the nondisjunction of homologous chromosomes during gametogenesis, characterized by three copies of chromosome 13 in somatic and germ cell lines. [5] Maternal nondisjunction represents 91% of cases typically due to errors in meiosis I. Meiotic errors originate from the aberrant recombination of chromosomes, which has a greater incidence among conceptions in women older than 35 years of age. [3]

A less phenotypically challenging trisomy can occur in a translocation. These translocations originate from two acrocentric breaks in the juxtacentromeric regions (usually chromosomes 13 and 14). The phenotypic expression will depend on the balance of the translocation. Balanced Robertsonian translocations will be less severe than those with an altered genetic quantity, as seen in unbalanced translocations. [7] The mosaic form of trisomy 13 occurs when some cell lines have the extra chromosomal material. [5] Mosaicism phenotype presents with varied expressivity with an increased intellectual sparing. [1]

Epidemiology

Trisomy 13 is the third most common trisomy, occurring in 1 in 10,000 to 20,000 live births. The antenatal mortality represents the majority of deaths, with a postnatal survival rate of 6 to 12% beyond the first year of life. [2] About 90% of trisomy 13 diagnoses made in developed countries are antenatal. [8] Cardiac and nervous system anomalies are amongst the most common malformations in trisomy 13. [9]

Pathophysiology

The meiotic nondisjunction in trisomy 13 causes a series of genetic aberrancies related to defects in prechordal mesoderm fusion. [6] The faulty fusion causes midline defects, which develop into phenotypic malformations incompatible with life. Some specific genetic mapping has identified a vast array of tumors in trisomy 13 carriers. [2]

Histopathology

The anatomic-histological classification of trisomy 13 was described in 1966 by Snodgrass et al. as two categories based on the presence or absence of holoprosencephaly. [10] Further evaluation of the external phenotype is commonly presented with postaxial hexadactyly. Midline malformations of internal organs are frequent, which include septal cardiac defects and Müllerian defects such as uterus didelphys. [10] The microscopic examination of aborted fetuses with trisomy 13 presents abnormal metanephric differentiation with the persistence of embryologic structures. Most of the embryologic malformations are traceable to mesoderm migration via the presence of olfactory aplasia since normal morphogenic development of craniofacial and forebrain structures occurs in the third week of embryogenesis. [10]

History and Physical

The typical findings in trisomy 13 include holoprosencephaly, Dandy-Walker malformation, aplasia cutis, cleft lip-palate, postaxial polydactyly, congenital heart disease, polycystic kidney disease, urogenital anomalies, and gynecological dysgenesis. [1] [10] Internal systems can also be compromised with hyperinsulinism portrayed by persistent hypoglycemia. While in utero, the most common findings are related to growth delay. [5]

The initial evaluation of trisomy 13 starts with fetal nuchal translucency (FNT) which, is done in weeks 11 to 14 of gestation. As with other trisomies, the measurement typically appears greater or equal to 3.5mm. [11] Part of the first-trimester screening also includes the measurement of free beta subunit or total human chorionic gonadotropin (B-hCG) and pregnancy-associated plasma protein-A (PAPP-A). During the first trimester, both biomarkers appear decreased, making it undifferentiated from trisomy 18 screening. [11]

Non-invasive prenatal testing (NIPT ) is possible using cell-free DNA in maternal plasma to differentiate trisomy 18 and 21 from 13; nonetheless, cost per value continues to support the use of invasive techniques. [12] Chorionic villus sampling (CVS) can be performed in an early window between gestational weeks 11 and 13, while amniocentesis is generally performed in weeks 15 to 18. [5] Recent studies suggest that the high mortality associated with trisomies 13 and 18 relate to the termination of pregnancies in up to 55% of gestations with a confirmed diagnosis. [13] Nonetheless, a definite diagnosis is only achievable from a postnatal karyotype and fluorescence in situ hybridization (FISH) techniques. [5]

Treatment / Management

Historical evidence suggested that the syndromic presence of multiple organ dysfunctions in trisomy 13 and 18 were incompatible with life. Nonetheless, the growing communication in society has portrayed anecdotal evidence of survivors from these conditions leading guidelines and decision making into a moral gray zone. [14]

The current approach focuses on creating a communicative relationship between the parents and physicians informing them about the quality of life and the treatment options specific to their child's abnormalities. [15] Although surgical techniques exist for the majority of lethal malformations associated with trisomy 13, the ten-year survival post-intervention remains low at 12.9%. [16]

Differential Diagnosis

The differential diagnosis of trisomy 13 should include Edwards syndrome due to its similarities during the initial gestational screening. [11] Other diagnoses should include partial duplication of 13q and pseudotrisomy 13. [17] The use of modern non-invasive techniques facilitates the differential diagnosis of pathologies usually prenatally associated with the same characteristics of trisomy 13. [12]

Evidence suggests that postnatal mortality is approximately 50% during the first month and up to 90% during the first year. [1] Recent information provided by organizations such as the support organization for Trisomy 13, 18, and related disorders (SOFT) has allowed the direct intervention of patients rather than palliative care. [5] These measures have impacted the survival rate of patients; nonetheless, there is a lack of study data to support the benefit of aggressive intervention and global survival rate.

Complications

Maternal complications are associated with trisomy 13, concurring in an increase in mortality for both the mother and the fetus. Data suggest that a trisomy 13 gestation is related to an increased prevalence of preeclampsia and early delivery. [18] Nevertheless, neonatal mortality is associated with central apnea, structural cardiac incompatibilities, pulmonary hypertension, aspiration, and upper respiratory tract obstructions. [5]

Deterrence and Patient Education

Antenatal integration of a multidisciplinary team should merit consideration to improve outcomes on both integral maternal health and the viability of the gestation. The evaluation team should include an obstetrician, fetal concerns center nurse, genetic counselor, neonatologist, and social worker. [13] Educating the patient should include the mode of inheritance of the disease, the complications of choosing to continue to pregnancy, and the value associated interventions of postnatal care.

Pearls and Other Issues

Trisomy 13 is the third most common nondisjunction meiotic triploidy followed by Edwards and Down syndrome. [1] The three genetic presentations are complete nondisjunction trisomy 13, a Robertsonian translocation, and mosaicism. The most common cause of holoprosencephaly is related to trisomy 13. [1] During the first-trimester screening of trisomy 13, FNT will appear equal or greater than 3.5mm, with a decreased B-hCG, and PAPP-A. [11] Most gestations with trisomy 13 are terminated, the continuation of pregnancy increases the risk of preeclampsia. [18]

Enhancing Healthcare Team Outcomes

Nondisjunction defects during miosis are related to increased maternal age, especially those above 35 years. Evidence suggests that maternal history of a previous trisomy increases the risk of a subsequent one. [19] Prenatal counseling is associated with a decrease in the intensive treatment approach, increasing palliative care options for the neonate. [13]

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Disclosure: Marco Noriega declares no relevant financial relationships with ineligible companies.

Disclosure: Abu Bakar Siddik declares no relevant financial relationships with ineligible companies.

This book is distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0) ( http://creativecommons.org/licenses/by-nc-nd/4.0/ ), which permits others to distribute the work, provided that the article is not altered or used commercially. You are not required to obtain permission to distribute this article, provided that you credit the author and journal.

Cite this Page Noriega MA, Siddik AB. Trisomy 13. [Updated 2023 Aug 13]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan-.

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Open access
Published: 06 July 2018

Management options and parental voice in the treatment of trisomy 13 and 18

Alaina K. Pyle ORCID: orcid.org/0000-0001-6776-6383 1 ,
Alan R. Fleischman 2 ,
George Hardart 3 &
Mark R. Mercurio 1

Journal of Perinatology volume 38 , pages 1135–1143 ( 2018 ) Cite this article

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Medical ethics
Paediatrics

Trisomy 13 and 18 are rare genetic conditions associated with high rates of congenital anomalies, universal profound neurocognitive deficits, and early death, commonly in the first month after birth. Historically, efforts were made to keep these newborns comfortable, but parents were generally not offered medical or surgical interventions. This practice has begun to change in some hospitals, but remains controversial, and a clear consensus between and even within institutions does not appear to exist. This essay presents a summary of current data and an ethical analysis of the question of whether medical and surgical interventions should be offered to parents of newborns with trisomy 13 or 18. While compelling arguments can be found on both sides, it is here suggested that informed parents should be given a stronger voice in these decisions than has traditionally been the case. In an effort to improve clarity and consistency within single institutions, a process for developing an institutional guideline for management of patients with these, or similar, conditions is presented.

Introduction

Trisomy 13 and 18 (also known as Patau syndrome and Edwards syndrome, respectively) were for many years considered lethal disorders, and medical interventions beyond comfort measures were generally not offered. These rare conditions (1 per 10,000 of live births for trisomy 18 and ~0.4 per 10,000 for trisomy 13) are commonly associated with anomalies of the central nervous system, heart, and gastrointestinal tract, among others, in addition to universal, profound neurocognitive deficits [ 1 ]. Since these syndromes were first described in 1960, the field of neonatology has made significant strides in the management of a variety of other neonatal conditions, such as extreme prematurity and congenital heart disease, that were once considered universally fatal [ 2 , 3 ]. Many infants with disorders once deemed lethal are now often living significantly longer, albeit with a broad range of associated disabilities due to their underlying disease process. This has led to a recognition that the designation of “lethal anomaly” is no longer accurate for many disorders that continue to sometimes be described in that way, including trisomy 13 and 18 [ 4 ].

Evidence from recent years shows that some children with trisomy 13 or 18 are able to live for years at home after medical and/or surgical intervention (including cardiac surgery, respiratory support, gastrostomy tubes, etc.), with case reports of individuals living for more than a decade. The mortality rate continues to be high, with studies reporting survival rates of approximately 10–25% at 1 year, although interpretation of mortality data is complicated by the fact that, at many centers, no attempt is made to prolong the life of these infants [ 5 , 6 ]. Thus, there could be a self-fulfilling prophecy of nearly universal early mortality in those centers, as has been described earlier for the most extremely preterm newborns [ 7 ]. The phenomenon of self-fulfilling prophecy is a risk for disorders with high mortality; if one assumes that patients with a certain disorder cannot survive, and thus elects not to offer potentially life-prolonging interventions, then the low, or zero, survival rate is perpetuated. This, in turn, reinforces the belief that these patients cannot be saved, and attempts to do so are therefore not medically or ethically appropriate. Nevertheless, reports have shown that some patients with trisomy 13 or 18 can and do survive the newborn period, and those who survive the first year tend to have improved rates of long-term survival, with around 10–15% total survival at 5 and 10 years of age [ 8 ].

In this essay, we present an overview of arguments for and against offering medical and surgical interventions for patients with trisomy 13 or 18, and describe a process by which the staff of a medical center can review their approach and develop a clear, coherent, and fair policy. After having completed such a process, the neonatology faculty at Yale New Haven Children’s Hospital modified its prior approach, and significantly increased the level of intervention made available. We suggest that patients with trisomy 13 or 18 should be managed as all others in the neonatal intensive care unit, with treatments offered or provided based upon an understanding of the most recent prognostic data, as well as relevant ethical considerations, and an understanding that parental preference, while not determinative in all cases, should be respected.

Outcomes, evolving guidelines, and practice

As has been rightly stated by many, good ethics begins with good data. While a thorough review of recent survival and morbidity data is beyond the scope of this essay, some important points beyond the survival data noted above deserve mention before a cogent discussion of the ethical issues at play can occur. This is particularly true in a situation such as this, where the prognostic information that many physicians act upon may no longer be valid.

The most recently available mortality data, as described above, demonstrate that at least a significant minority of these patients can survive beyond the newborn period if efforts are made to prolong life. The profound developmental and intellectual disabilities seen in patients with trisomy 13/18 are well documented, but there are reports via parental surveys of some basic milestones such as sitting, self-feeding, and interactive play being met by some children surviving long term [ 9 , 10 ]. These are small and largely anecdotal studies, but do provide limited evidence that some survivors are able to make developmental progress. Through these surveys of parents of children with trisomy 13/18, it has been shown that these children are often perceived as being happy and having a good quality of life, as well as being able to interact with their family [ 10 , 11 ].

A significant number of children with trisomy 13 and 18 have been hospitalized and offered procedures across the United States over the past two decades [ 12 ]. Between 1997 and 2009, nearly 2000 patients were admitted (1/3 of which were birth admissions) in each 1-year time period studied. There were ~2700 procedures in total performed in the five 1-year observation time periods studied. One question in particular that has become increasingly controversial is whether to offer cardiac surgery to this population, as the benefit is felt to be limited with a high risk of mortality. This has not borne out in recent studies, showing an improved survival benefit after complete repair of congenital cardiac defects [ 6 , 13 , 14 , 15 ]. Importantly, there is a higher mortality rate than the general population, but carefully selected patients, ideally at >3 months of age and >3 kg, are often able to tolerate the procedure and successfully be discharged home without mechanical ventilation [ 13 ].

Professional organizations utilize evolving data to continually adjust their recommendations for optimal management. The International Liaison Committee on Resuscitation (ILCOR) has published guidelines on neonatal resuscitation every 5 years since 2000, including a section on when it may be appropriate to withhold interventions [ 16 ]. Trisomy 13 and 18 were explicitly mentioned in the 2000 and 2005 guidelines, in a list that included anencephaly and infants <23 weeks, as examples of conditions with “almost certain early death and when unacceptably high morbidity is likely among the rare survivors” and therefore “resuscitation is not indicated” [ 16 , 17 ]. Interestingly, for the updated 2010 guideline, trisomy 18 was removed from that category and trisomy 13 remained [ 18 ]. The most recent 2015 guideline states simply that “no new data have been published that would justify a change to these guidelines,” while reiterating that “under circumstances when outcome remains unclear… the desires of the parents should be supported” [ 19 ]. It is here suggested that trisomy 13/18 should fall into this latter category, with the emphasis on shared decision-making based on parental values.

Rationale for withholding medical and surgical interventions

Withholding medical and surgical interventions from newborns with trisomy 13 or 18, that is, not offering these interventions to parents, has been a longstanding approach, though in some centers this is clearly evolving. There are several arguments in support of this approach. Perhaps the most common is based upon futility and the obligation not to prolong or increase suffering when there is no potential for long-term benefit to the child.

The term “futile” is commonly used to describe situations wherein efforts under consideration cannot achieve the desired goal. For this term to be used with any coherence, then, one must first determine the desired goal. One can think of many clinical situations wherein a certain intervention may add hours or days to a patient’s life, but no more. Whether such an intervention should be seen as futile will be informed by whether the goal is survival for a few more days, or survival for additional years. Moreover, there are treatments, such as pain relief, that may not add significantly to the duration of life but have a reasonable chance of increasing the quality of life. Once again, whether these interventions are deemed futile should depend on the determination and articulation of the goals. In the case of trisomy 13 or 18, the data clearly show that the belief that survival beyond the neonatal period is impossible, or nearly impossible, is mistaken. We do not know how many would survive if maximal efforts were made for each child, but we know without doubt that some of these children already survive. Thus, if impossibility or near impossibility of survival for months or years is the argument for withholding treatment, it does not stand up. Moreover, the use of the term futile is often used inappropriately in settings such as this. A recent statement from multiple critical care societies rightly suggests that the term “potentially inappropriate” rather than futile should be used to describe treatments that have at least some chance of accomplishing the desired goal, which appears to often be the case for infants with trisomy 13 or 18 [ 20 ]. However, if the parents’ goal is to have an infant that survives without profound cognitive deficits (and to our knowledge there has never been such a survivor), then it seems reasonable to consider medical interventions to be futile, as they cannot achieve that goal.

A central question, then, is: What is the goal? Or, perhaps an even more fundamental question is, who should determine the goal? We suggest that it should be a joint decision by parents and physicians, with the parental values at the center of the discussion. Parents who see value in the ongoing life of a profoundly disabled child and in their interactions with that child should have the option of continued life-sustaining treatments. Conversely, if the parents believe the severe neurodevelopmental impairments would result in suffering and a poor quality of life for their child, their values should be supported, and comfort measures only would be appropriate.

Another argument against offering interventions beyond comfort measures concerns appropriate allocation of limited medical resources. It could be argued that the funds spent on these children would better be used for others with a better prognosis for long-term survival, or survival without profound disability. We will not here argue that careful and fair allocation of resources is not advisable—it surely is. Health care is a limited resource, and though it is not currently being rationed in a systematic way in the United States, there are situations in which cost drives treatment decisions– at the individual, hospital, and national level. The limitations on use of healthcare resources should be discussed openly and transparently, with an eye to optimizing outcomes, improving efficiency, and respecting individual rights. It could well be argued that conditions such as trisomy 13 and 18, with their associated high rate of mortality and poor developmental outcomes, would be an appropriate setting for which to enforce limitations on treatment.

The burdens and potential harm to families, short term and possibly long term, resulting from the care of such a profoundly impaired child, is another argument for withholding interventions. Considerations might include the effect on the marriage and/or on siblings, as well as a significant negative financial impact on the family.

There may be another, more difficult to assess, burden placed on parents that should be considered in this analysis. Among the many emotions that can be experienced by parents in these difficult situations, and potentially among the most painful, is guilt. Specifically, once an offer of medical or surgical intervention is made, parents may feel obligated to “do everything possible,” and feel guilty if they choose otherwise. Thus, it could be argued that by making more treatment options for trisomy 13/18 available to parents, physicians may actually be doing them a disservice, whereby parents are emotionally cornered into making a choice they do not truly want. Experience suggests this may indeed sometimes be the case, and thus physicians are well advised to be careful with what they offer to parents and how they offer it. For example, by proactively explaining why many loving parents choose comfort care for infants with these conditions, physicians may be able to assuage some of the parent’s guilt associated with this path. The alternative to these thoughtful and open discussions is to deny families a choice that they might want, risking a well-meaning but paternalistic usurpation of their parental rights.

Rationale for offering intervention

Over the past century in the United States, attitudes toward those with intellectual and physical disabilities have shifted towards greater acceptance, with increased valuation of their lives. Trisomy 21 serves as a prime example of this change in outlook over time, both societally and within the medical profession. The provision of life-saving medical and surgical intervention for infants with trisomy 21 has evolved since the 1970s, when it was often considered ethically permissible to forego interventions such as duodenal atresia repair due to the known long-term disability [ 21 , 22 ]. This, of course, is no longer the case, and surgical intervention for disorders such as duodenal atresia or trachea-esophageal atresia in the setting of trisomy 21 is now considered obligatory. The point is not that disability in trisomy 13 and 18 is similar to that in trisomy 21, but that our attitudes toward disability have changed. Thus, we might consider the profound disabilities in trisomy 13 and 18 in a new light. Our values as a profession have changed. And, perhaps even more importantly, there has been an increasing recognition that parental values should be respected as a primary voice in the decision-making process for children. Moreover, the value of a life with profound disability may be perceived quite differently by parents, the children themselves, and physicians, and the parental perspective is rightfully being given increasing weight [ 23 , 24 ].

Differences in treatment preferences between physicians and families may at least partially be explained by the major differences in their perspectives and experience. Often, the negative sequelae are seen far more frequently by medical providers—during acute decompensations, admission to the hospital, or surgical procedures—and internalized. Parents, conversely, are able to appreciate the positive moments in the home life of a medically fragile child, as well as their struggles. Therefore, some have argued that parents are best situated to assess the quality of life for their child. This is reflected in surveys completed by parents of children with trisomy 13 and 18, which show that many families believe their child has a good quality of life [ 9 , 10 , 11 ].

The right of parents to make medical decisions on behalf of their children, while not absolute, is generally perceived to be far-reaching [ 23 ]. This right provides a major justification for providing them with all medically indicated options, as their ability to make decisions can be compromised if limitations are placed on the choices offered by the medical team. Parents are presumed to hold the best interest of their child first and foremost in the decision-making process, and they are best positioned to decide what an acceptable long-term quality of life looks like for their family. However, this right should not be seen as absolute; for example, a parental request or demand for a treatment that offers no clear benefit to the child and may cause harm should not be provided. An excellent review of how to manage potentially inappropriate requests for treatment was recently published and is beyond the scope of this paper [ 20 ]. In patients with life-limiting conditions such as trisomy 13 and 18, the line at which it is acceptable to let parental wishes override a physicians’ recommendation becomes blurred by the lack of clear knowledge regarding efficacy of specific treatments in this population and difficulties with effectively relaying to parents the potential realities of caring for a severely disabled child. Recent outcome data suggesting that interventions such as cardiac repair may in fact prolong life and improve quality of life should inform our discussions with family, as well as our willingness to offer and perform such procedures [ 25 ].

The minimization of suffering is a critical shared goal for both physicians and families. The infant’s right to receive medical care that could prevent or treat suffering should play a significant role in the decision-making process, especially with less invasive interventions such as nasal cannula, nasogastric feedings, and medications to treat reflux, apnea, or seizures. These interventions can and should be selected on an individual basis, based on the parents’ goals of care and the child’s medical needs, without obligating the parents or the care team to be “all in or all out.”

It should also be noted that for patients with trisomy 13 and 18, there are interventions, such as medically administered nutrition and hydration, which could be considered both life-sustaining and palliative due to the comfort provided by feeding for many infants. Also, there is a clear but rarely discussed possibility that an infant with trisomy 13/18 is also susceptible to reversible processes in the neonatal period, such as respiratory distress syndrome, transient tachypnea of the newborn, hypoglycemia, and so on, which could resolve with routine interventions. Should we allow these babies to die or suffer through potentially reversible processes, because their underlying condition is life limiting and is associated with significant neurodevelopmental impairment? If a family’s goals of care are focused on maximizing time with their child alive, it seems reasonable that medical interventions made available should reflect that desire, especially when managing potentially transient processes.

Finally, there is an issue of fairness or justice, a value long held and widely accepted in medical ethics [ 26 ]. The principle of justice suggests that we should treat equals equally and unequals unequally. While there can never be a perfect analogy between diagnoses, it is noteworthy that families of pediatric patients with very poor prognoses, including very poor neurological prognoses, are typically given a choice regarding life-sustaining measures. Consider, for example, a newborn or older child with severe hypoxic–ischemic encephalopathy or traumatic brain injury. It is not immediately clear why the parents of children with trisomy 13 or 18, with a similarly grim neurological prognosis, should not be accorded the same degree of decisional authority. It is the default position in medicine, and rightly so, that all efforts are made to prolong the patient’s life and relieve the patient’s suffering. When physicians decide to do otherwise, a justification should be required. Most often, when a treatment is available, feasible, and has the potential to prolong life, the justification for non-treatment in the pediatric setting rests on the family’s preference. There is no clear justification why children with trisomy 13/18 should be approached differently.

Ethical analysis

Often in medicine we answer difficult questions based on how we were taught, or on our past practices. This is not a bad start, but it is only a start, and complete reliance on such an approach impedes medical progress. No one should seek to be the physician who treats medical problems in the manner learned decades ago, without frequent consideration of new developments. New data must be considered, and old approaches should be re-examined in that light. It is the same with ethical questions, which require of us occasional reconsideration not just of the relevant ethical principles, but also the most current data. In particular, ethical inquiry requires us to reflect on whether our practice is consistent with our own professed values [ 27 ]. Moral progress also requires us to occasionally revisit those values themselves.

The right of a patient or a patient’s decision-maker to choose a given treatment is limited by a combination of what is medically available and ethically permissible. We do not advocate a system wherein the physician acts solely as parents dictate. On the contrary, it falls to the pediatrician to serve as a check against parental demands when they are clearly opposed to the child’s best interest [ 20 ]. Physicians should generally not be obligated to provide treatment that they perceive as unethical, but it is important to honestly consider the basis for that perception, and to consider that, in some situations, the parents’ values should be determinative. Given our current understanding of the biases inherent in the determination of the quality and value of life of persons with disabilities, we suggest that a pediatrician’s refusal to provide a given treatment based on value judgements in the setting of disability should carry less weight than a refusal based on a factual assessment of patient benefit and burden.

There have been compelling arguments made for and against the ethical permissibility of taking non-patient-related factors such as financial burden, effect on other children in the family, and so on into account when making treatment decisions. The 2016 AAP policy statement on informed consent acknowledges the approach of considering family’s interests in addition to the interests of the patient “as long as the child’s basic needs, medical and otherwise, are met.” [ 28 ] Related to this but distinct is the question of whether it is ethically permissible for physicians to consider non-patient-related factors in these treatment decisions. While this complex debate is beyond the scope of this essay, it seems overly paternalistic for a physician to refuse a treatment for the family’s sake, if the family themselves do not share that view.

The increasing deference to parental values remains an area of contention, in part due to concern over cases of perceived inappropriate parental demands for interventions that are considered futile (i.e., cannot achieve the stated goal) as well as those that are considered morally objectionable by the clinical providers. This struggle to find a balance between parental rights and the desire to prevent the use of painful and non-beneficial interventions is addressed by the recent AAP Guidance on Forgoing Life-Sustaining Medical Treatment (LSMT). It states that “It may be ethically supportable to forgo LSMT without family agreement in rare circumstances of extreme burden of treatment with no benefit to the patient beyond postponement of death” [ 29 ]. The tension between parents and providers in these extreme cases has resulted in significant moral distress and highlights the need for a mechanism that allows medical providers to stop LSMT when the family refuses. The recent joint statement from five adult critical care groups strives to meet this need by providing a stepwise pathway to resolving “futility” cases and also instructs physicians not to provide truly futile interventions [ 20 ]. This need must continue to be met with great caution within pediatrics, to prevent the pendulum from swinging back towards an overly paternalistic model of care whereby parental authority is lost.

Resource allocation is a frequently utilized argument for withholding interventions for children with trisomy 13 and 18. In the United States, there is no standardized policy for any condition of childhood for which care is explicitly limited by an institution, region, or state based exclusively on the cost of the interventions. Justice requires that equals be treated equally, so it seems unfair to enact a guideline that leads to one group of infants being refused interventions due to financial concerns, unless we include all patients with similar prognoses for survival and morbidity. It should also be noted that the amount of resources expended on these infants over time will be very small in comparison to that spent on the much larger numbers of severely debilitated adults in intensive care near the end of life [ 30 ]. Nevertheless, we acknowledge that at some point it may be necessary to limit what is provided to whom. Such decisions, however, should be fair and transparent, and not limited to one small group of individuals without justification.

It is not here argued that medical and surgical interventions in the setting of trisomy 13 or 18 should be seen as ethically obligatory. The threshold for considering a treatment obligatory (i.e., should be provided even over parental objection) ought to be high—the benefits to the child should very clearly outweigh the burdens. Given the severity of short-term and long-term prognoses, intervention in this setting does not meet that threshold and should not be sought or provided over parental objection. However, for a treatment to be seen as ethically impermissible, there should be no chance of benefit to the child, or the burdens of treatment should far outweigh the benefits. Here, too, this threshold is not met. The chance for benefit in at least some cases has been demonstrated. What is often left for these patients is the middle ground, wherein the treatment should be considered ethically permissible. If for a given patient a treatment is permissible, even if inadvisable, then parents should be given the choice. If the physicians judge the treatment to be inadvisable, it seems appropriate for the physician to share his/her recommendation on that question with the parents, and the reasoning behind that recommendation [ 20 ]. However, this recommendation should not come with a prohibition against choosing another ethically permissible option.

Reasonable, thoughtful individuals might look at the ethical arguments for and against, and conclude that medical and surgical interventions beyond comfort measures should not be offered for patients with trisomy 13/18, especially in a resource-poor area. However, based on the considerations presented above, we suggest that the arguments in favor of offering, but not requiring, treatment are ultimately stronger. We conclude that interventions should be offered to families of neonates with trisomy 13 and 18, based on the principle of justice, the right to parental authority, respect for parental values, and a lack of compelling evidence that such interventions cannot achieve parental goals of care.

Developing a management guideline

To combat the risk for significant inconsistencies in therapies offered within single institutions to families of neonates with confirmed trisomy 13 or 18, it is here recommended that institutions utilize a stepwise process to develop a clear, transparent, and consistent written management guideline. There is an extensive literature on clinical practice guideline development which is beyond the scope of this manuscript [ 31 ]. One approach that has been used successfully in the setting of trisomy 13/18 and is applicable to other ethically challenging scenarios in pediatrics, is outlined below.

The first task in answering a question is to clearly identify and articulate the question at hand. Here, the question is: “What interventions should be offered to families of neonates with confirmed trisomy 13 and 18?” This basic question, the relevant data, and relevant ethical principles/arguments, could be presented in a Grand Rounds or similar presentation, at which appropriate stakeholders are present. This should include, at a minimum, clinicians from General Pediatrics, Cardiology, Genetics, Cardiothoracic Surgery, Pediatric Surgery, Obstetrics, Nursing, Ethics, and Neonatology. In addition, representatives of parent/patient advocacy groups would be a valuable addition to the discussion. After soliciting input from stakeholders, a smaller meeting should be held among the individuals who will have the most direct involvement in medical decision-making in the prenatal and newborn period, so as to form a coherent and feasible plan. In our center, we believed this was best accomplished in a meeting that included all faculty and fellows within the neonatology division. There are many different people involved in the care of neonates with trisomy 13/18 but attempting to include all of them in a decision-making forum would be unwieldy and inefficient, thus the decision to limit participation in the follow-up meeting.

Prior to beginning this meeting, it is recommended that all members of the division agree to abide by the final decision of the group, ultimately to be reached by a majority vote. It is important to acknowledge that this is likely be a difficult prospect for some subset of the group, regardless of the decision made, but is necessary to ensure consistent implementation of the final decision. Given the shared attending responsibility and frequent cross-coverage, it would be highly problematic, confusing, and unfair to parents and newborns to have availability of therapies at a given institution vary from one day to the next. There is a real possibility that, through this process, some members of the group could feel coerced into acting against their conscience, by agreement to abide by the majority opinion. Individual hospitals should have a process by which physicians are able to express their conscientious objections, while ensuring that patient management is unimpeded, and no undue burden is placed on other providers [ 32 ].

The first portion of the meeting may best be dedicated to summarizing the current data from the literature, standards of care at this and other institutions, and the important ethical arguments. Availability of treatments for patients with trisomy 13/18 at other centers in the region or beyond will be particularly relevant when considering the option of referral. Everyone present should then be invited to offer their opinion and an explanation of their thought process, and to have an open, frank discussion. Of course, it cannot be mandated, but an openness to opposing points of view is an essential component of a successful process. Due to the inherent power dynamic within most teams, those in a position of leadership, including the chair of the meeting, would be well advised to withhold stating an opinion until the others have had the opportunity to articulate theirs. Alternatively, the meeting could be led by an individual entirely outside the group, such as a mediator, an ethicist, or another medical provider in an area unaffected by the topic at hand. The meeting leader should encourage all present to be involved in the discussion, mediate disagreements if necessary, and keep the group focused on the question being discussed.

After a general discussion, specific treatments should be considered individually. Should gavage feeding be offered? Bag-mask ventilation? Mechanical ventilation? Cardiac surgery? At the conclusion of the meeting, the group should have a clear approach for which specific therapies could be made available to parents of neonates with trisomy 13/18 in their facility. It seems wise to state in the guideline itself that the agreed-upon options should generally be made available, but there may be exceptions based upon the specifics of the case. The guideline should then be shared within the institution, and there should be a willingness to revise if new considerations are brought forth, such as new data or newly available therapies. When the process is completed, information regarding the guideline should also then be available to individuals and families who may be affected. The preference for utilizing this guideline via a shared decision-making process with the family in the prenatal time period cannot be overstated. Parental decisions are best made with adequate time to contemplate the available information and options, after speaking with any relevant specialists based on their infants’ known or expected medical issues.

Some clinicians within the institution, but outside the group that authored the guideline, may well disagree with the plan. This is particularly relevant in the setting of trisomy 13 and 18, where standards are evolving, and opinions are often strongly held. Given the disparity of opinions on this matter, it seems right to give colleagues outside the division significant latitude, as specified below.

Risks of the process

This process of guideline development in difficult clinical scenarios has many positive attributes, but there are risks as well. Groupthink—a phenomenon whereby dysfunctional decision-making occurs in a group that prizes conformity over critical evaluation of individual viewpoints—is a significant concern, especially if there is one or a few dominant voices in the discussion. When important decisions are made in a group setting, groupthink can lead to a consensus on a plan that the individual members might not, on their own, have considered wise [ 33 ]. Individuals might be influenced by the perceived (perhaps falsely) opinion of peers held in high regard. One safeguard against this concern could include encouraging people to raise and seriously consider any potential counterarguments to the plan, even if all seem at the outset to agree. Also, two meetings separated by some time, even if only one or two nights, might allow for solitary contemplation. One might find that, what sounded appropriate when a room full of colleagues agreed, does not seem as good when considered in isolation. That should serve as a red flag to the individual and should subsequently be shared with the group.

Another risk of the process is the cognitive dissonance associated with a major change in practice, making some psychologically more likely to favor the status quo. A preference for a plan that differs from longstanding practice may carry with it the implication (or cognition) for practitioners that this then means they have been doing something unethical up to now. This could make it difficult to change established practice, even if the ethical arguments seem to favor the change, and can be an especially difficult challenge to overcome when associated with life-or-death decisions. It may be psychologically easier for one to confirm the validity of past practice, rather than be left with the perception that one has been “doing it wrong.” The best safeguard against this is awareness that moral progress in medicine, as elsewhere, will require us to revisit and sometimes alter our judgements and our practice. Good, experienced physicians rightfully do many things differently than they did years ago. This does not suggest a lack of professional competence in the past, but rather it suggests progress in the profession, and a recognition that we should always be open to doing things better. A willingness to change should not be viewed as an accusation regarding past practice, but rather as a healthy attitude toward progress.

Suggested policy

Different groups of thoughtful individuals may go through the process described above and come to different conclusions. We feel, however, that going through this or a similar process is advisable. It is not here suggested that the policy ultimately adopted at the authors’ institution is the only correct one, or that it should be adopted by others. Rather, in the spirit of transparency, our approach is shared below.

Prior to the current iteration of a process such as this at Yale New Haven Children’s Hospital, a majority of neonatologists had agreed to offer comfort care only to patients with these aneuploidies, which did not include medically administered nutrition and hydration, medications for management of cardiac lesions, or respiratory support of any kind. After the process of guideline development described above, there was a change in approach. The Division of Neonatology decided that medically indicated interventions will be made available to newborns with trisomy 13/18, after ensuring that parents are well informed of risks and benefits. This includes interventions previously withheld such as positive pressure ventilation, medically administered nutrition and hydration, and surgical repair of problems such as congenital heart disease. Transplant candidacy was not addressed at this time so would require significant discussion, and likely consultation with the hospital ethics committee, if a case were to arise within the institution, to determine the appropriateness of such a complicated intervention.

An important aspect of this approach is that it reflects what the neonatologists felt should be offered. It is not intended to obligate others, such as surgeons, to provide procedures they do not feel are appropriate. If neonatologists believe that a given patient could benefit from a surgical procedure, this is discussed with the relevant surgeons in the institution. If a surgeon agrees, the procedure is then offered to parents. If the parents request a medically indicated procedure but the relevant surgeons in the institution choose not to do it on ethical grounds or concerns regarding medical complexity, the patient is supported in the pre-operative period while the medical team makes a good faith effort to locate a surgeon and facility elsewhere willing to provide the procedure. If the diagnosis is made prenatally, these discussions could result in a decision to deliver the patient in a different facility willing to provide the requested interventions.

There was a clear distinction made by the group between what should be offered to families of children with trisomy 13/18, and what would be recommended. As with many other patients with similarly poor prognoses, most of the physicians who were involved in this discussion generally recommend to parents a focus on comfort care only but are willing to offer other interventions described above to well-informed parents, and defer to their right to parental authority.

A consideration of available outcome data, and the arguments for and against the ethical permissibility of medical and surgical treatments beyond comfort measures in the setting of a fetus or newborn with trisomy 13 or 18, suggests that some treatments formerly not made available for these patients should be seen as ethically permissible. Therefore, parents of these patients should be given more options than has traditionally been the case in many medical centers. Our approach to these patients, as with all newborn patients, should be directed by our best understanding of prognosis, feasibility, ethical considerations, and the wishes and values of well-informed parents. Every institution that manages such newborns should develop a written guideline based on these same considerations, in an effort to provide a fair and transparent approach. And, as with any other clinical guideline, it should be revisited periodically as outcomes data and professional values continue to evolve.

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Alaina K. Pyle & Mark R. Mercurio

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Alan R. Fleischman

Columbia University College of Physicians and Surgeons and Morgan Stanley Children’s Hospital, New York City, NY, USA

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Pyle, A.K., Fleischman, A.R., Hardart, G. et al. Management options and parental voice in the treatment of trisomy 13 and 18. J Perinatol 38 , 1135–1143 (2018). https://doi.org/10.1038/s41372-018-0151-6

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Elaine Maria Pereira; Trisomy 13. Pediatr Rev January 2023; 44 (1): 53–54. https://doi.org/10.1542/pir.2022-005517

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Trisomy 13 (T13), also known as Patau syndrome, is the third most common aneuploidy, with a live birth prevalence of 1 in 18,000. Often resulting from maternal meiotic nondisjunction, the risk of T13 increases with the mother’s age. Prenatally, T13 is suspected with a concerning quad screen or noninvasive prenatal screening result. If invasive genetic testing is not performed, the likelihood of having a child with T13 is increased with abnormal ultrasonography findings, such as intrauterine growth restriction and anomalies affecting the nervous, cardiac, and skeletal systems.

T13 is confirmed with a chromosome analysis, which can be performed with prenatal invasive testing or postnatally with a blood sample. Although the results of a karyotype may not be available for approximately 2 weeks, fluorescent in situ hybridization showing 3 copies of chromosome 13 can be performed in 1 to 2 days. A karyotype is the preferred test to determine whether there is true T13 (75% of cases), a Robertsonian translocation (20% of cases), or mosaicism. Performing the chromosome analysis is especially important to evaluate for mosaicism when features of the condition are more subtle.

Neonates with T13 typically have distinctive facial features that should alert medical providers to look for an underlying genetic condition: a sloping forehead, eye abnormalities (micro-ophthalmia, hypotelorism, iris colobomas), low-set ears with an unusual shape, micrognathia (small jaw), and a prominent occiput. There may also be a cleft lip and/or palate. Although these facial features are similar to those of trisomy 18, the second most common aneuploidy, neonates with T13 are more likely to have cutis aplasia congenita in the occipital region of the scalp: punched out well-demarcated lesions without skin, usually in a cluster of 3, which should alert the astute clinician to look for other features of T13.

Along with typical facial features, neonates with T13 are at increased risk for multiple congenital anomalies. They tend to have midline structural neurologic defects, including holoprosencephaly (∼30%), agenesis of the corpus callosum, and cerebellar hypoplasia. Microcephaly is apparent in some of the neonates even when taking into account their being small for gestational age. Even if the brain is structurally normal, they are at increased risk for central apnea. Structural heart defects are seen in 40% to 90% of these children, the most common being a ventricular septal defect, atrial septal defect, or tetralogy of Fallot. The cardiac defects can lead to pulmonary hypertension from overcirculation. Renal and urinary abnormalities are seen in 60% of neonates with T13, including multicystic kidneys, hydronephrosis, horseshoe kidneys, and cryptorchidism. Postaxial polydactyly is another common feature.

Despite the fact that approximately half of neonates with T13 die within 2 weeks of birth from cardiorespiratory complications, in recent years more infants with T13 than in the past have received medical and surgical interventions during the neonatal period. Dialogue among parents, surgeons, and NICU teams has led to a more open attitude about actively intervening to support these children. Immediate interventions might include imaging of the heart, brain, and kidneys to look for the commonly seen anomalies; a sleep study to assess for sleep apnea; and blood work to identify thrombocytopenia, especially if surgery is being considered. If cardiac repair is performed, children with T13 often require longer respiratory support than is usual, with respiratory depression being a prolonged concern. Poor muscle coordination and hypotonia often result in difficulties with feeding that are significant enough to warrant consideration of a gastrointestinal tube to promote better nutrition and decrease the risk of aspiration.

Overall, approximately 10% of infants with T13 survive beyond 1 year of age, with children with mosaicism having the highest likelihood. Their survival has led to the creation of surveillance guidelines to monitor for potential complications. Growth parameters should be plotted on curves specific for T13 because these children typically have growth retardation and microcephaly. Regular assessment of feeding is vital to ensure that needed nutritional interventions can be instituted in a timely manner. The risk of abnormalities of the retina and optic nerve call for evaluation by a pediatric ophthalmologist. Depending on what congenital anomalies initial evaluation identified, routine follow-up with the appropriate subspecialists is important.

Typically, children with T13 have significant developmental delay and intellectual disabilities, which become more prominent as they get older. Occupational and physical therapy are important to help these children gain milestones and maximize their motor skills. Most remain nonverbal, although they may have better receptive than expressive language; some can learn to sign or use a communication device for simple phrases. Given this limited ability to communicate, their caretakers need to monitor children with T13 for subtle cues of infections and other illnesses.

Recently, there have been studies of patients with T13 who have survived into adulthood. Short stature as much as 4 to 5 standard deviations below the mean is a common feature. Cardiac issues among these long-term survivors tend to be less complex, typically involving only septal defects. Some of these adults had further eye complications, including retinal detachment or lens dislocation. With advances in supportive care, we can expect to see more children with T13 survive into adolescence and adulthood, making it important to continue learning about the natural history of older individuals with this condition.

Dr Pereira mentions Robertsonian translocation as an underlying mechanism of T13. I had to look it up: so, in case you also need to, hopefully you can benefit from my ignorance. Apparently, this type of translocation is the most common form in humans, affecting something like 1 in 1,000 newborns. The translocation involves acrocentric chromosomes, in which the centromere is asymmetrically located very close to one end of the chromosome. In humans, chromosomes 13, 14, 15, 21, and 22 are acrocentric. The translocation occurs when 2 of these chromosomes break apart near their centromeres, and both long arms fuse into 1. The broken off short arms are lost, usually without clinical significance, and with the fusion of the 2 long arms the total chromosome count of the affected individual is 45. Most people with Robertsonian translocations are themselves phenotypically normal, unaware of their genetic anomaly, but their offspring can be at risk. A parent, particularly a mother, with a Robertsonian translocation can transmit extra chromosomal material to the child. When that extra chromosomal material is the long arm of 13 or 21, a form of Patau or Down syndrome results.

If you care to know, this translocation is named for William Robertson, a zoologist who in 1916 first identified it in grasshoppers!

–Henry M. Adam, MD

Associate Editor, In Brief

AUTHOR DISCLOSURE

Dr Pereira has disclosed no financial relationships relevant to this article. This commentary does not contain a discussion of an unapproved/investigative use of a commercial product/device.

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Surgical History and Outcomes in Trisomy 13 and 18: A Thirty-year Review

Affiliations.

1 Department of Surgery, Division of Pediatric Surgery, Indiana University School of Medicine, 705 Riley Hospital Drive, Suite 2500, Indianapolis, IN 46202, United States.
2 Center for Outcomes Research in Surgery, Indiana University School of Medicine, 545 Barnhill Drive, Emerson Hall, Indianapolis, IN 46202, United States.
3 Fetal Center at Riley Children's Health, Indiana University Health, 705 Riley Hospital Drive, Indianapolis, IN 46202, United States; Department of Pediatrics, Division of Neonatal Perinatal Medicine, Indiana University School of Medicine, 705 Riley Hospital Drive, RT 4600, Indianapolis, IN 46202, United States.
4 Fetal Center at Riley Children's Health, Indiana University Health, 705 Riley Hospital Drive, Indianapolis, IN 46202, United States; Department of Molecular Genetics, Indiana University School of Medicine, 1002 Wishard Blvd, Indianapolis, IN 46202, United States.
5 Department of Surgery, Division of Pediatric Surgery, Indiana University School of Medicine, 705 Riley Hospital Drive, Suite 2500, Indianapolis, IN 46202, United States; Fetal Center at Riley Children's Health, Indiana University Health, 705 Riley Hospital Drive, Indianapolis, IN 46202, United States. Electronic address: [email protected].
PMID: 36402594
DOI: 10.1016/j.jpedsurg.2022.10.010

Background: Patients with Trisomy 13(T13) and 18(T18) have many comorbidities that may require surgical intervention. However, surgical care and outcomes are not well described, making patient selection and family counseling difficult. Here the surgical history and outcomes of T13/ T18 patients are explored.

Methods: A retrospective review of patients with T13 or T18 born between 1990 and 2020 and cared for at a tertiary children's hospital (Riley Hospital for Children, Indianapolis IN) was conducted, excluding those with insufficient records. Primary outcomes of interest were rates of mortality overall and after surgery. Factors that could predict mortality outcomes were also assessed.

Results: One-hundred-seventeen patients were included, with 65% T18 and 35% T13. More than half of patients(65%) had four or more comorbidities. Most deaths occurred by three months at median 42.0 days. Variants of classic trisomies (mosaicism, translocation, partial duplication; p = 0.001), higher birth weight(p = 0.002), and higher gestational age(p = 0.01) were associated with lower overall mortality, while cardiac(p = 0.002) disease was associated with higher mortality. Over half(n = 64) underwent surgery at median age 65 days at time of first procedure. The most common surgical procedures were general surgical. Median survival times were longer in surgical rather than nonsurgical patients(p<0.001). Variant trisomy genetics(p = 0.002) was associated with lower mortality after surgery, while general surgical comorbidities(p = 0.02), particularly tracheoesophageal fistula/esophageal atresia(p = 0.02), were associated with increased mortality after surgery.

Conclusions: Trisomy 13 and 18 patients have vast surgical needs. Variant trisomy was associated with lower mortality after surgery while general surgical comorbidities were associated with increased mortality after surgery. Those who survived to undergo surgery survived longer overall.

Level of evidence: III.

Keywords: Morbidity; Outcomes; Surgery; Survival; Trisomy 13 (T13); Trisomy 18 (T18).

Chromosome Disorders* / complications
Chromosome Disorders* / epidemiology
Retrospective Studies
Trisomy 13 Syndrome / complications
Trisomy 18 Syndrome

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Tiny heart repairs

Babies with rare genetic disorders have chance for longer lives

By Aylin Woodward

Photography by Timothy Archibald

Pediatric cardiologist Thomas Collins, MD.

It was once unusual for children with Down syndrome to have surgery to repair heart defects that are associated with the disorder. “Back in 1975, folks would’ve said there’s nothing we can do to help those babies. But now people have proven if you do heart surgery early, patients with Down syndrome can live to adulthood and be active members of their community. The difference it makes for them is tremendous,” says Stanford pediatric cardiologist Thomas Collins , MD.

Collins believes new research might also change attitudes about performing surgery for others who, like Down syndrome babies, are born with a third copy of a chromosome — in this case, babies with trisomy 13 or trisomy 18.

In a recent study published in Pediatrics , Collins and colleagues from the University of Arkansas for Medical Sciences showed that heart surgery can more than double the life spans of babies with trisomy 13, also called Patau syndrome, or trisomy 18, also called Edwards syndrome.

Birth defects and disabilities are far more severe in Patau and Edwards syndrome babies than they are in Down syndrome babies, who can live for many decades. Many Patau and Edwards syndrome babies die within hours or days of birth and most don’t live past a year old.

Their heart conditions are often treated with standard medical care — blood pressure medication, ventilators and intravenous fluids. Surgery is rarely an option. “The thought has been it doesn’t make sense to undertake a major heart surgery if the patient’s death within a few months is a near certainty,” Collins says.

Extending the lives of these babies means they still might not live past the age of 2, but even that improvement gives parents more time with their children and more options for care, Collins points out. It also gives specialists more time to develop treatments for other health issues, such as breathing difficulties.

For their study, researchers used data on nearly 1,600 trisomy 13 and 18 patients from 44 children’s hospitals across the United States between 2004 and 2015. They found that heart surgery increased survival and hospital discharge on average from 33 percent to about 67 percent and that the benefit lasted through two years of follow-up, Collins says.

“Especially for trisomy 18, the number of babies that survive more than doubles after surgery,” he says.

Most infants in the study were admitted at less than a day old, and 51 percent of infants in the study who had congenital heart defects died in the hospital or were discharged to hospice.

Collins says he hopes the research will change how doctors approach treating Patau and Edwards syndrome babies once heart issues are addressed. He says he plans to study more than 3,000 trisomy 13 and 18 patients to determine how their collective health problems fit together, with a goal toward creating a guideline for treatment priorities.

“Surgery gives parents the option to say, ‘We’re going to do everything we can for our baby,’” Collins says. “And, now we’ve shown that heart surgeries could allow parents to take their babies home from the hospital, and have them for two years or beyond, as opposed to two weeks.”

Aylin Woodward

Aylin Woodward is a freelance writer.

Email the author

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About Trisomy 13

Many rare diseases have limited information. Currently, GARD aims to provide the following information for this disease:

Population Estimate: Fewer than 50,000 people in the U.S. have this disease.
Symptoms: May start to appear during Pregnancy and as a Newborn.
Cause: This disease is caused by changes in the way information is arranged into chromosomes.
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Categories: Birth Defects Genetic Diseases Kidney Diseases Gastrointestinal Diseases

When Do Symptoms of Trisomy 13 Begin?

58 Symptoms

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Medical Term

Abnormality of cardiovascular system morphology.

Any structural anomaly of the heart and great vessels.

Cardiovascular malformations

What Causes This Disease?

Genetic Mutations
Chromosomal Changes

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Chromosome disorder outreach, people with.

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Hope For Trisomy

Support organization for trisomy 18, 13, and related disorders.

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EveryLife Foundation for Rare Diseases

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Reference: Access aggregated data from Orphanet at Orphadata . Orphanet is an online database of rare diseases and orphan drugs. Copyright, INSERM 1997.
Reference: OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine , Johns Hopkins University School of Medicine, under the direction of Dr. Ada Hamosh.
Reference: Human Phenotype Ontology Downloads Kohler S, Gargano M. Matentzoglu N, et al., The Human Phenotype Ontology in 2021, Nucleic Acids Research, Volume 49, Issue D1, 8 January 2021, Pages D1207-D1217.
Reference: MedGen Data Downloads and FTP
Reference: MedLinePlus
Reference: Data from the Newborn Screening Code and Terminology Guide is available here. Downs SM, van Dyck PC, Rinaldo P, et al. Improving newborn screening laboratory test ordering and result reporting using health information exchange . J Am Med Inform Assoc. 2010 Jan-Feb; 17(1):13-8
The National Library of Medicine . (2023). Unified Medical Language System (UMLS) .
National Academies of Sciences, Engineering, and Medicine. (2015). Improving Diagnosis in Health Care . Washington, DC: The National Academies Press.
U.S. Department of Health and Human Services, Office of Disease Prevention and Health Promotion. (2016). Health Literacy Online: A Guide for Simplifying the User Experience .

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Description

Trisomy 13 occurs in about 1 in 16,000 newborns. Although women of any age can have a child with trisomy 13, the chance of having a child with this condition increases as a woman gets older.

Most cases of trisomy 13 result from having three copies of chromosome 13 in each cell in the body instead of the usual two copies. The extra genetic material disrupts the normal course of development, causing the characteristic features of trisomy 13.

Trisomy 13 can also occur when chromosome 13 becomes attached (translocated) to another chromosome during the formation of reproductive cells (eggs and sperm) or very early in fetal development. Affected people have two normal copies of chromosome 13, plus an extra copy of chromosome 13 attached to another chromosome. In rare cases, only part of chromosome 13 is present in three copies. The physical signs and symptoms in these cases may be different than those found in full trisomy 13.

A small percentage of people with trisomy 13 have an extra copy of chromosome 13 in only some of the body's cells. In these people, the condition is called mosaic trisomy 13. The severity of mosaic trisomy 13 depends on the type and number of cells that have the extra chromosome. The physical features of mosaic trisomy 13 are often milder than those of full trisomy 13.

Learn more about the chromosome associated with Trisomy 13

chromosome 13

Inheritance

Most cases of trisomy 13 are not inherited and result from random events during the formation of eggs and sperm in healthy parents. An error in cell division called nondisjunction results in a reproductive cell with an abnormal number of chromosomes. For example, an egg or sperm cell may gain an extra copy of chromosome 13. If one of these atypical reproductive cells contributes to the genetic makeup of a child, the child will have an extra chromosome 13 in each cell of the body.

Translocation trisomy 13 can be inherited. An unaffected person can carry a rearrangement of genetic material between chromosome 13 and another chromosome. These rearrangements are called balanced translocations because there is no extra material from chromosome 13. A person with a balanced translocation involving chromosome 13 has an increased chance of passing extra material from chromosome 13 to their children.

Other Names for This Condition

Bartholin-Patau syndrome
Complete trisomy 13 syndrome
Patau syndrome
Patau's syndrome
Trisomy 13 syndrome

Additional Information & Resources

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Scientific articles on pubmed.

Chen M, Yeh GP, Shih JC, Wang BT. Trisomy 13 mosaicism: study of serial cytogenetic changes in a case from early pregnancy to infancy. Prenat Diagn. 2004 Feb;24(2):137-43. doi: 10.1002/pd.814. Citation on PubMed
Crider KS, Olney RS, Cragan JD. Trisomies 13 and 18: population prevalences, characteristics, and prenatal diagnosis, metropolitan Atlanta, 1994-2003. Am J Med Genet A. 2008 Apr 1;146A(7):820-6. doi: 10.1002/ajmg.a.32200. Citation on PubMed
Di Giacomo MC, Susca FC, Resta N, Bukvic N, Vimercati A, Guanti G. Trisomy 13 mosaicism in a phenotypically normal child: description of cytogenetic and clinical findings from early pregnancy beyond 2 years of age. Am J Med Genet A. 2007 Mar 1;143A(5):518-20. doi: 10.1002/ajmg.a.31515. No abstract available. Citation on PubMed
FitzPatrick DR, Ramsay J, McGill NI, Shade M, Carothers AD, Hastie ND. Transcriptome analysis of human autosomal trisomy. Hum Mol Genet. 2002 Dec 15;11(26):3249-56. doi: 10.1093/hmg/11.26.3249. Citation on PubMed
Graham EM, Bradley SM, Shirali GS, Hills CB, Atz AM; Pediatric Cardiac Care Consortium. Effectiveness of cardiac surgery in trisomies 13 and 18 (from the Pediatric Cardiac Care Consortium). Am J Cardiol. 2004 Mar 15;93(6):801-3. doi: 10.1016/j.amjcard.2003.12.012. Citation on PubMed
Hall HE, Chan ER, Collins A, Judis L, Shirley S, Surti U, Hoffner L, Cockwell AE, Jacobs PA, Hassold TJ. The origin of trisomy 13. Am J Med Genet A. 2007 Oct 1;143A(19):2242-8. doi: 10.1002/ajmg.a.31913. Citation on PubMed
Iliopoulos D, Sekerli E, Vassiliou G, Sidiropoulou V, Topalidis A, Dimopoulou D, Voyiatzis N. Patau syndrome with a long survival (146 months): a clinical report and review of literature. Am J Med Genet A. 2006 Jan 1;140(1):92-3. doi: 10.1002/ajmg.a.31056. No abstract available. Citation on PubMed
Parker MJ, Budd JL, Draper ES, Young ID. Trisomy 13 and trisomy 18 in a defined population: epidemiological, genetic and prenatal observations. Prenat Diagn. 2003 Oct;23(10):856-60. doi: 10.1002/pd.707. Citation on PubMed
Pont SJ, Robbins JM, Bird TM, Gibson JB, Cleves MA, Tilford JM, Aitken ME. Congenital malformations among liveborn infants with trisomies 18 and 13. Am J Med Genet A. 2006 Aug 15;140(16):1749-56. doi: 10.1002/ajmg.a.31382. Citation on PubMed
Rasmussen SA, Wong LY, Yang Q, May KM, Friedman JM. Population-based analyses of mortality in trisomy 13 and trisomy 18. Pediatrics. 2003 Apr;111(4 Pt 1):777-84. doi: 10.1542/peds.111.4.777. Citation on PubMed

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Trisomy 13 Syndrome

Last updated: October 12, 2007 Years published: 1986, 1994, 1998, 1999, 2000, 2001, 2007

Trisomy 13 Syndrome is a rare chromosomal disorder in which all or a portion of chromosome 13 appears three times (trisomy) rather than twice in cells of the body. In some affected individuals, only a percentage of cells may contain the extra 13th chromosome (mosaicism), whereas other cells contain the normal chromosomal pair.

In individuals with Trisomy 13 Syndrome, the range and severity of associated symptoms and findings may depend on the specific location of the duplicated (trisomic) portion of chromosome 13, as well as the percentage of cells containing the abnormality. However, in many affected infants and children, such abnormalities may include developmental delays, profound mental retardation, unusually small eyes (microphthalmia), an abnormal groove in the upper lip (cleft lip), incomplete closure of the roof of the mouth (cleft palate), undescended testes (cryptorchidism) in affected males, and extra (supernumerary) fingers and toes (polydactyly). Additional malformations of the head and facial (craniofacial) area may also be present, such as a relatively small head (microcephaly) with a sloping forehead; a broad, flat nose; widely set eyes (ocular hypertelorism); vertical skin folds covering the eyes; inner corners (epicanthal folds); scalp defects; and malformed, low-set ears. Affected infants may also have incomplete development of certain regions of the brain (e.g., the forebrain); kidney (renal) malformations; and structural heart (cardiac) defects at birth (congenital). For example, characteristic heart defects may include an abnormal opening in the partition dividing the upper or lower chambers of the heart (atrial or ventricular septal defects) or persistence of the fetal opening between the two major arteries (aorta, pulmonary artery) emerging from the heart (patent ductus arteriosus). Many infants with Trisomy 13 Syndrome fail to grow and gain weight at the expected rate (failure to thrive) and have severe feeding difficulties, diminished muscle tone (hypotonia), and episodes in which there is temporary cessation of spontaneous berathing (apnea). Life-threatening complications may develop during infancy or early childhood.

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Chromosome 13, Trisomy 13 Complete
Complete Trisomy 13 Syndrome
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Associated symptoms and findings may vary in range and severity from case to case. However, Trisomy 13 Syndrome is often characterized by craniofacial, neurologic, heart (cardiac), and/or other defects.

Affected infants typically are unusually small and have feeding difficulties. Various craniofacial malformations are frequently present, such as an abnormally small head (microcephaly) and a sloping forehead; unusual wideness of the soft spots (fontanelles) at the front and back of the skull; incomplete closure of the roof of the mouth (palate); a small jaw; scalp ulceration at the top of the head; and/or low-set, malformed ears. Other characteristics may include a short neck; loose skin folds over the back of the neck; and/or the presence of a benign lesion or birthmark consisting of abnormal clusters of blood vessels (capillary hemangiomas), most frequently on the center of the forehead.

In addition, eye (ocular) abnormalities may include unusually small eyes (microphthalmia); partial absence of ocular tissue from the iris (iris coloboma); abnormal development of the retina (retinal dysplasia); vertical skin folds over the inner corners of the eyes (epicanthal folds); and/or other ocular defects. In addition, the eyebrows may be sparse or absent.

Trisomy 13 Syndrome is also frequently characterized by variable degrees of holoprosencephaly, a condition in which the forebrain fails to divide properly during embryonic development. In those with Trisomy 13 Syndrome, holoprosencephaly may result in various associated, midline facial defects, including closely set eyes (hypotelorism); an abnormal groove in the middle and side of the upper lip (median and lateral cleft lip); abnormalities of the nose; and/or other features. Associated cyclopia has occurred infrequently, characterized by fusion of the eye cavities (orbits) into a single cavity containing one eye.

Affected infants may also have additional abnormalities of the central nervous system (i.e., brain and spinal cord). Holoprosencephaly may be associated with episodes characterized by temporary cessation of spontaneous breathing (apnea) or sudden uncontrolled electrical activity in the brain (seizures). Many infants are thought to be deaf, and profound mental retardation is usually present. In addition, in some cases, additional features may include abnormal tone of voluntary (skeletal) muscles; absence of the band of nerve fibers that joins the two hemispheres of the brain (agenesis of the corpus callosum); underdevelopment of the cerebellum (cerebellar hypoplasia); hydrocephalus; and/or myelomeningocele. Hydrocephalus is a condition in which obstructed flow or impaired absorption of cerebrospinal fluid (CSF) results in an abnormal accumulation of CSF in the skull, usually under increased pressure. CSF is the protective fluid that circulates through the cavities (ventricles) of the brain, the canal containing the spinal cord (spinal canal), and the space between layers of the protective membranes (meninges) surrounding the brain and spinal cord (i.e., subarachnoid space). Myelomeningocele is characterized by protrusion of a membranous sac containing a portion of the spinal cord, its meninges, and CSF through a defect in the spinal column.

About 80 percent of infants with Trisomy 13 Syndrome also have congenital heart defects, such as atrial or ventricular septal defects or patent ductus arteriosus (PDA). In infants with PDA, the channel that is present between the pulmonary artery and the aorta during fetal development fails to close after birth. (The pulmonary artery carries oxygen-depleted blood from the right ventricle to the lungs, where the exchange of oxygen and carbon dioxide occurs. The aorta, the major artery of the body, arises from the left ventricle and supplies oxygen-rich blood to most arteries.) In some cases, other defects may be present involving the pulmonary artery and aorta, certain heart valves, and/or heart chambers. In addition, the heart may be located in the right side of the chest, instead of its normal location in the left side of the chest (dextrocardia).

Kidney (renal) defects may also occur. These may include multiple cysts in the kidneys; abnormal union of the two kidneys at the base (horseshoe kidney); and/or swelling of the kidneys with urine due to blockage or narrowing of the ureters (hydronephrosis), which carry urine into the bladder. Abnormalities of the genitals are also associated with Trisomy 13 Syndrome, including undescended testes (cryptorchidism) and an abnormally formed scrotum in affected males and underdeveloped ovaries and malformed uterus (bicornuate uterus) in affected females.

Infants with Trisomy 13 Syndrome also frequently have certain abnormalities of the hands and feet. These may include more than the normal number of fingers and/or toes (polydactyly); abnormal bending (flexion) and possible overlapping of fingers; and unusually rounded (hyperconvex) nails. The heels of the feet may be abnormally prominent. In addition, Trisomy 13 Syndrome may be associated with abnormal skin ridge patterns (dermatoglyphics), including a single deep crease across the palms of the hands (simian crease).

In some cases, other abnormalities may also be present. Such features may include thin ribs, an underdeveloped pelvis, certain muscle abnormalities, hernias, abnormal development of the pancreas, and/or other anomalies.

In individuals with Trisomy 13 Syndrome, all or a relatively large region of chromosome 13 is present three times (trisomy) rather than twice in cells. In about five percent of cases, only a percentage of cells contains the extra 13th chromosome (mosaicism).

Chromosomes are found in the nucleus of all body cells. They carry the genetic characteristics of each individual. Pairs of human chromosomes are numbered from 1 through 22, with an unequal 23rd pair of X and Y chromosomes for males and two X chromosomes for females. Each chromosome has a short arm designated as “p” and a long arm identified by the letter “q.” Chromosomes are further subdivided into bands that are numbered.

Trisomy (or “duplication”) of a particular region or regions of chromosome 13 is responsible for the symptoms and findings that characterize the disorder. The severity and range of symptoms may depend on the length and location of the duplicated portion of the chromosome. In addition, those with trisomy 13 mosaicism typically have less severe symptoms; however, in such cases, disease manifestations may be extremely variable, ranging from near normal to the full spectrum of malformations.

In most individuals with Trisomy 13 Syndrome, duplication of chromosome 13 is caused by spontaneous (de novo) errors during the division of reproductive cells in one of the parents (e.g., nondisjunction during meiosis). Evidence suggests that the risk of such errors may increase with advanced parental age. In cases in which only a percentage of cells contains the trisomy 13 abnormality (mosaicism), errors may also occur during cellular division after fertilization (mitosis).

In about 20 percent of affected individuals, trisomy 13 results from a translocation involving chromosome 13 and another chromosome. Translocations occur when regions of certain chromosomes break off and are rearranged, resulting in shifting of genetic material and an altered set of chromosomes. For most individuals with Trisomy 13 Syndrome, such translocations occur spontaneously for unknown reasons (de novo); less commonly, they are transmitted by a parent who is a carrier of a “balanced” translocation. (If a chromosomal rearrangement is balanced–i.e., consists of an altered but balanced set of chromosomes–it is usually harmless to the carrier. However, balanced translocations are sometimes associated with a higher risk of abnormal chromosomal development in the carrier’s offspring. Chromosomal testing may determine whether a parent has a balanced translocation.)

Investigators suggest that certain symptoms and findings associated with Trisomy 13 Syndrome may result from overexpression of developmentally important genes on chromosome 13. For example, the gene that regulates production of an enzyme known as esterase D (ESD) has been located on the long arm (q) of chromosome 13 (13q14.11). Elevated levels of esterase D have been found in the kidney tissues of some affected infants. Further investigations are required to learn more about the specific underlying causes of Trisomy 13 Syndrome and the potential role of esterase D.

Affected populations

Trisomy 13 Syndrome is sometimes called Patau Syndrome, after one of the researchers (Patau K) who identified the syndrome’s trisomic origin in 1960. The syndrome appears to affect females slightly more frequently than males and occurs in about one in 5,000 to 12,000 live births.

Evidence suggests that approximately one percent of all recognized miscarriages occur in association with Trisomy 13 Syndrome. In addition, as noted above, the frequency of Trisomy 13 increases with advancing age of the mother.

Investigators have also suggested a possible association between preeclampsia and Trisomy 13. Preeclampsia is an abnormal condition of pregnancy characterized by the rapid onset of high blood pressure (hypertension), abnormal amounts of protein in the urine (proteinuria), and/or excessive retention of fluids (edema). According to researchers, the number of cases of preeclampsia appears to be significantly higher in women who are carrying a fetus with Trisomy 13 Syndrome than would be otherwise expected in the general population. In addition, the incidence appears significantly higher than when compared with pregnancies complicated by certain other chromosomal abnormalities (e.g., trisomy 18, trisomy 21 [Down Syndrome]). Such researchers suggest the possibility that a gene or genes on fetal chromosome 13 may influence the development of preeclampsia.

Symptoms of the following disorders may be similar to those of Trisomy 13 Syndrome. Comparisons may be useful for a differential diagnosis:

Pseudo-trisomy 13 Syndrome is a rare disorder characterized by holoprosencephaly; associated midline facial abnormalities; extra fingers and/or toes (polydactyly); and/or heart defects, such as atrial or ventricular septal defects. In some cases, additional abnormalities may also be present, including genital defects; absence of the band of nerve fibers joining the two hemispheres of the brain (agenesis of corpus callosum); hydrocephalus; and/or other features. Although symptoms and findings are similar to those potentially associated with Trisomy 13 Syndrome, infants with this disorder do not have an extra chromosome 13 and their chromosomal studies appear normal. Evidence suggests that this disorder may be inherited as an autosomal recessive trait.

There are a number of other disorders, including other chromosomal syndromes, that may be characterized by symptoms and findings similar to those associated with Trisomy 13 Syndrome. Chromosomal testing is necessary to confirm whether a specific chromosomal abnormality is present. (For further information on such disorders, choose the name of the specific disorder in question or use “chromosome” as your search term in the Rare Disease Database.)

In some instances, a diagnosis of Trisomy 13 Syndrome may be suggested before birth (prenatally) by specialized tests, such as fetal ultrasonography, amniocentesis, and/or chorionic villus sampling (CVS). During fetal ultrasonography, reflected sound waves create an image of the developing fetus, potentially revealing findings that may suggest a chromosomal disorder or other abnormalities. For example, ultrasound findings that may be suggestive of Trisomy 13 may include holoprosencephaly, polydactyly, and growth retardation.

During amniocentesis, a sample of fluid that surrounds the developing fetus is removed and analyzed, while CVS involves the removal of tissue samples from a portion of the placenta. Chromosomal studies performed on such samples may reveal the presence of an extra chromosome 13.

The diagnosis of Trisomy 13 Syndrome may be made or confirmed after birth (postnatally) by a thorough clinical evaluation, detection of characteristic physical findings, and chromosomal analysis. Testing may also reveal unusual persistence of embryonic and/or fetal hemoglobin in the blood of newborns and infants with Trisomy 13 Syndrome. (Hemoglobin is the oxygen-carrying component of red blood cells.)

For infants diagnosed with the syndrome, careful monitoring and various specialized tests may be conducted to ensure early detection and appropriate management of conditions potentially associated with Trisomy 13 Syndrome.

The treatment of Trisomy 13 Syndrome is directed toward the specific symptoms that are apparent in each individual. Such treatment may require the coordinated efforts of a multidisciplinary team of medical professionals.

In some cases, recommended treatment may include surgical correction of certain abnormalities associated with the disorder. The surgical procedures performed will depend upon the nature and severity of the anatomical abnormalities, their associated symptoms, and other factors.

A supportive team approach for children with this disorder may be of benefit and may include physical therapy, medical, and/or social services. Genetic counseling will also be of benefit for families of children with Trisomy 13 Syndrome. Other treatment for this disorder is symptomatic and supportive.

The Tracking Rare Incidence Syndromes (TRIS) project is designed to raise awareness and provide support for families and professionals involved in the care of children and adults with rare trisomy conditions. The TRIS project seeks to increase the knowledge base on rare incidence trisomy conditions, and to make this information available to families and interested educational, medical and therapeutic professionals. For more information, contact:

Tracking Rare Incidence Syndromes (TRIS) project Phone: (618) 453-2311

Email: [email protected] Website: https://tris.siu.edu/

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov . All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.

For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:

Tollfree: (800) 411-1222 TTY: (866) 411-1010 Email: [email protected]

Some current clinical trials also are posted on the following page on the NORD website: https://rarediseases.org/living-with-a-rare-disease/find-clinical-trials/

For information about clinical trials sponsored by private sources, contact: www.centerwatch.com

For information about clinical trials conducted in Europe, contact: https://www.clinicaltrialsregister.eu/

Jones KL. Smith’s Recognizable Patterns of Human Malformation. 5th ed. Philadelphia, Pa: W.B. Saunders Company; 1997:18-23.

Buyse ML. Birth Defects Encyclopedia. Dover, Mass: Blackwell Scientific Publications, Inc.; 1990:368-70.

Gorlin RJ, et al., eds. Syndromes of the Head and Neck. 3rd ed. New York, NY: Oxford University Press; 1990:40-43, 576, 579.

JOURNAL ARTICLES

Amor DJ, et al. Pseudotrisomy 13 syndrome in siblings. Clin Dysmorphol. 2000;9:115-18.

Heydanus R, et al. Pre-eclampsia and trisomy 13. Eur J Obstet Gynecol Reprod Biol. 1995;60:201-02.

Baty BJ, et al. Natural history of trisomy 18 and trisomy 13: I. Growth, physical assessment, medical histories, survival, and recurrence risk. Am J Med Genet. 1994;49:175-88.

Baty BJ, et al. Natural history of trisomy 18 and trisomy 13: II. Psychomotor development. Am J Med Genet. 1994;49:189-94.

Ramos-Arroyo MA, et al. Further delineation of pseudotrisomy 13 syndrome: a case without polydactyly. Am J Med Genet. 1994;50:177-79.

Seller MJ, et al. Pseudotrisomy 13 and autosomal recessive holoprosencephaly. J Med Genet. 1993;30:970-71.

Lurie IW, et al. Holoprosencephaly-polydactyly (pseudotrisomy 13) syndrome: expansion of the phenotypic spectrum. Am J Med Genet. 1993;47:405-09.

Loughna S, et al. Overexpression of esterase D in kidney from trisomy 13 fetuses. Am J Hum Genet. 1993;53:810-16.

Twining P, et al. The ultrasound markers for chromosomal disease: a retrospective study. Br J Radiol. 1993;66:408-14.

Tuohy JF, et al. Pre-eclampsia and trisomy 13. Br J Obstet Gynaecol. 1992;99:891-94.

Droste S. Fetal growth in aneuploid conditions. Clin Obstet Gynecol. 1992;35:119-25.

Cohen MM, et al. Pseudo-trisomy 13 syndrome. Am J Med Genet. 1991;39:332-35, 336-37.

Rodriguez JI, et al. Trisomy 13 syndrome and neural tube defects. Am J Med Genet. 1990;36:513-16.

Boyd PA, et al. Pre-eclampsia and trisomy 13: a possible association. Lancet. 1987;2:425-27.

Patau K, et al. Multiple congenital anomalies caused by an extra autosome. Lancet. 1960;1:790-93.

FROM THE INTERNET

McKusick VA, ed. Online Mendelian Inheritance in Man (OMIM). Baltimore, MD: The Johns Hopkins University; Entry No: 264480; Last Update: 7/11/00.

Assistance Programs

Patient Organizations

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NORD strives to open new assistance programs as funding allows. If we don’t have a program for you now, please continue to check back with us.

Additional Assistance Programs

Medicalert assistance program.

NORD and MedicAlert Foundation have teamed up on a new program to provide protection to rare disease patients in emergency situations.

Rare Disease Educational Support Program

Ensuring that patients and caregivers are armed with the tools they need to live their best lives while managing their rare condition is a vital part of NORD’s mission.

Rare Caregiver Respite Program

This first-of-its-kind assistance program is designed for caregivers of a child or adult diagnosed with a rare disorder.

Support Organization for Trisomy 18, 13, and Related Disorders

March of dimes, support organization for trisomy 13/18 and related disorders, uk, unique – rare chromosome disorder support group, let them hear foundation, perkins school for the blind, national center on deaf-blindness, medical home portal.

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What is a Rare Disease?

A rare disease is defined as a condition that affects fewer than 1 in 200,000 patients in the United States or 1 in 2000 in Europe.

Many rare diseases are genetic (caused by change in DNA), which change can be inherited, spontaneous, or epigenetic. Since there are many genes (~20,000), there are many possible defects.

To date, about 7000 Rare Diseases have been identified.

Disease Researchers

Specialists who have done research into Trisomy 13.

These specialists have recieved grants, written articles, run clinical trials, or taken part in organizations relating to Trisomy 13, and are considered knowledgeable about the disease as a result.

Clinical Trials

A clinical trial is how pharmaceutical companies and the FDA determine if treatment for a rare disease is safe and effective. Because the number of patients with rare diseases are extremely small, it is difficult for the companies to enroll enough patients to statistically prove (that the improvement wasn't just by chance) that the treatment was effective. It may take many years to treat enough patients to determine if a treatment is effective. The FDA, patient communities, legislation, and the drug companies are working on ways to address this issue.

Source: ClinicalTrials.gov

The National Institutes of Health sponsors a large number of grants each year in different areas of public health interest. As with all government spending, the funds allocated to each researcher, their research topic, and their results are available for review. InfoHub collects that data so you can see who is doing research in a particular area of rare diseases and what progress has been made.

FDA Orphan Drugs

Orphan Drug is a special status given by the FDA to a medication that was specifically developed for treatment of a rare disease. This status provides pharmaceutical companies with financial incentives for developing and marketing the drug.

Patient assistance programs can help patients pay for expensive prescriptions. There are often eligibility restrictions based on income, insurance status, and citizenship.

Before taking any medication, always check with a qualified professional for healthcare information, treatment advice.

Source: FDA Orphan Drug Database

FDA Orange Book Drugs

The FDA Orange Book drug database contains all approved drugs. Some drugs may be re-purposed from their original use to treat a rare disease. This table lists research papers that mention a drug in conjuntion with this disease.

Source: FDA Approved Drug Products

Chemotext is a publicly-available Webserver that mines the published literature in PubMed in the form of Medical Subject Headings (MeSH) terms.

The goal of Chemotext is to enable text-based drug-target-disease relationships in order to identify novel drug repurposing candidates and discovery targets.

Use this link to query the Chemotext database for Trisomy 13

Use this link to visit the Chemotext homepage

Fetal Care Patient Stories | Anna and Trisomy 13

With First Birthday, Anna Defies Odds of Trisomy 13

Anna smiles, laughs, plays, rolls and loves to eat – just like other 1-year-old babies.

Despite her condition, Anna enjoys a good quality of life

Megan and Neil DeRuiter never thought they would be celebrating their daughter Anna’s first birthday.

Born with trisomy 13 – a rare and life-limiting genetic disorder in which a baby has an extra 13th chromosome – Anna wasn’t expected to live past her first month.

But Anna’s case proved to be comparably mild. And now one year later, she is defying the odds and opening presents.

Daniel T. Swarr, MD , a neonatologist and geneticist who studies trisomy 13, describes the bleak reality for most families and the ray of light for others like the DeRuiters.

“The majority do pass away in their first 1-2 weeks of life, but there seems to be a small subset of children with trisomy 13 – on the order of 10-20 percent – who live for quite a long period of time,” said Swarr. “Those that survive the first six months to a year often live for many years afterward.”

Even more good news is that Anna is getting bigger, eating well and meeting more developmental milestones.

Significant improvement in her obstructive sleep apnea means she no longer needs to wear oxygen during the day, only at night. Ongoing treatment will continue at both Cincinnati Children’s and near the family's home in West Virginia for a wide range of other conditions, including seizures, speech therapy, occupational and physical therapy, congenital heart disease, eye conditions and dietary needs.

Some might see a list of conditions but Megan sees something else. She sees a happy child. She sees her daughter smiling and playing every day. She sees a good quality of life.

Swarr smiles too when he hears of Anna’s continued success, and that of other patients like her. He believes their milestones and achievements should not only be celebrated, but also studied by geneticists around the country who can learn more about the developmental outcomes of children like Anna.

“I think we can learn from all our patients, as physicians. And particularly from someone like Anna,” said Swarr. “It’s valuable for all of us to learn from her and the experiences of her family.”

Baby Anna in the Newborn Intensive Care Unit (NICU).

Anna spent four weeks in the Newborn Intensive Care Unit (NICU) after she was born and diagnosed with trisomy 13.

In Megan's Own Words

Anna’s mom, Megan, shares aspects of her pregnancy and thoughts about the treatment her daughter has received from our Cincinnati Children's Fetal Care Center team and other specialties.

On what she’d like people to know about trisomy 13:

“What I want people to understand, and what I don’t think people understand, is that trisomy 13 is a spectrum. It can cause very severe defects, to where the baby passes away in utero. It can cause severe defects to where the baby lives for minutes after being born. Or it can cause more mild defects. I was told it was a death sentence. It is not a [guaranteed] death sentence. And whether these babies die in utero or live for a couple of minutes or for a couple of hours or for years – these kids are a blessing.”

“What people should also understand about trisomy kids is they do meet milestones. It’s delayed. It’s not at the same rate as a chromosomally typical kid. But Anna, she smiles, she plays, she laughs, she rolls, she lifts up her head, she lifts up her legs. She has just gotten so strong. She eats from a bottle. She eats baby food. She eats infant cereal. She eats Puffs. She loves to eat! She’s been doing wonderful in that aspect."

On Cincinnati Children’s:

“We were very impressed by the facility, by the hospital, by how professional everybody was. The hospital is huge. It’s like an airport, almost. Once we figured out where we were going, we were just very impressed by everything.”

“We saw kids there with all kinds of different conditions. So I guess I didn’t feel so alone, knowing there were lots of parents with kids with different conditions who were seeking treatment, who were doing everything they could to get their kids the help they needed. That made me feel good.”

On how she felt the family's voices were heard by staff:

“Anna being born in Cincinnati saved her life, not because she needed a lot of intervention – she really didn’t. But because it was never a question of how far do you want to go? What I liked about Cincinnati is they let us – my husband and I, as her parents – make the decision. They didn’t just say: ‘We are not doing this and we’re not doing that because she has this life-limiting diagnosis.’ They said 'these are the facts, these are the statistics.' They gave us really good information about what her fetal MRI showed and what was going on with her, but still they let us make the decision as far as what types of treatments and interventions we wanted.”

On doctors' honest expectations for Anna and her treatment:

“They weren’t unrealistic. They gave us the facts. They gave us the same statistics and the medical literature that our local doctors were giving us, but also with the caveat that no one truly knew what was going to happen until she was born.”

“It felt like we were being treated like she mattered. Even though she is special needs, even though she is not typical, she still matters. She is a person and she matters, and that’s how we were treated at Cincinnati, and I really appreciated that.”

On how she handles the realities of the condition:

“As she has lived, and grown and exceeded expectations, I have kind of stopped the ‘IF she makes it a month.’ ‘IF she makes it two months.’ ‘IF she makes it six months.’ I’ve stopped doing that because she has shown us that she is here and she is here to stay.”

“There will be difficulties, she’s going to need help, for sure, but I’ve stopped, basically, expecting her to die.”

On how Anna is doing now and plans for the future:

“It’s been a hard year, but also an amazing past year. And Anna is just an absolute blessing.”

“Yesterday I was like, 'Oh, I need to find a Halloween costume for her.' Stuff I never dreamed we would be doing! So I’m careful. I’m cautious. I understand that she’s not going to run around, go to daycare and do kid things like my son has, but that doesn’t mean she can’t live a long time or a good quality of life. She has trisomy 13, but she is living a good life. A good quality of life.”

(Published October 2020)

Anna, pictured here during her first birthday, is different from most babies born with trisomy 13, in that she didn’t have the same life-threatening birth defects or breathing problems that lead to early death, according to Leandra Tolusso, a prenatal genetic counselor.

“While we don’t completely understand why some kids with this condition do “better” than others, we do know that certain factors – such as not having a serious congenital heart defect – are associated with longer survival,” said Tolusso.

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Empowering Those Living with Genetic Conditions

As of 2017, approximately 1 in every 5000-8000 live born babies in the United States has trisomy 13. The prevalence varies depending on the age of the mother at the time of birth.

There is a known association between increasing maternal age and increased prevalence of the birth of a child with trisomy 13.

As of 2017, there is no other high-risk population prevalence information available for this condition. Thus, it is believed that the disorder can affect people of any ethnic or racial group.

As of 2017, there is no carrier frequency information available for this condition.

Frequently Asked Questions About Trisomy 13

Will my child be less severely affected if they have mosaic trisomy 13.

It depends on which cells in the body have the 2 copies of chromosome 13 and which have 3. If all of the heart cells have 3 copies of chromosome 13, the risk to have a heart defect may be the same. If all of the kidney cells have 2 copies of chromosome 13, the risk to have a kidney abnormality may be lower. Mosaicism is very complicated, and it is challenging to predict how a baby will be affected. Mosaicism means having more than one type of cell in the body. In the case of mosaic trisomy 13, it means some cells have the normal number of chromosome 13 (2 copies) and some cells have the abnormal number (3 copies).

Why does my doctor seem to want me to have an abortion because my baby has Trisomy 13?

When a pregnant woman and her family are told that their unborn baby has trisomy 13 and then it is confirmed through an amniocentesis or other prenatal diagnostic testing, it means that they are suddenly moved from a happy expectant place into a scary world of uncertainty, numbers, and frightening medical complications. Words such as lethal or ‘incompatible with life’ may be used. In most situations, a doctor is not telling a woman to end her pregnancy, but they will give their opinion based on their medical knowledge and past experience. However bleak the possible outcomes, the doctor, genetic counselor, and medical team should respect that it is that family and that pregnant woman’s choice to continue the pregnancy until term or not. It may help to talk to friends, family, doctors and faith leaders, before making a choice based on individual circumstances. It may help to reach out to organizations such as the SOFT support organization at http://trisomy.org. If a healthcare professional does not seem to be respecting or supportive of a pregnant woman’s decisions related to her pregnancy, then it is okay to seek another care team. Before changing care teams though it is best to discuss any concerns with the current doctor and team to determine if they are unknowingly pushing towards one decision or another.

Where do I find other families with a child with Trisomy 13?

Other people who have a child with trisomy 13 can be found through online support groups. They include:

Chromosome Disorder Outreach ( http://www.chromodisorder.org ) SOFT (Support Organization for Trisomy) ( http://trisomy.org ) The Arc ( http://www.thearc.org ) Hope for Trisomy 13 & 18 ( http://www.hopefortrisomy13and18.org )

Your local genetic counselor may also be able to connect you with other families who have had a child with trisomy 13. Through the National Society of Genetic Counselors (NSGC) website, you can find a genetic counselor in your area ( http://nsgc.org/p/cm/ld/fid=164 ).

Where can I learn more about Trisomy 13?

Lucile Packard Children’s Hospital at Stanford: Trisomy 13 and Trisomy 18 ( http://www.stanfordchildrens.org/en/topic/default?id=trisomy-18-and-13-90-P02419 ) Minnesota Department of Health Fact Sheet ( http://www.health.state.mn.us/divs/cfh/topic/diseasesconds/trisomy13.cfm ) Texas Department of State Health Services ( http://www.dshs.state.tx.us/birthdefects/risk/risk10-trisomy13.shtm ) National Genetics and Genomics Education Centre (UK) ( http://www.geneticseducation.nhs.uk/genetic-conditions-54/691-patau-syndrome-new ) About Kids Health ( http://www.aboutkidshealth.ca/EN/HEALTHAZ/CONDITIONSANDDISEASES/GENETICDISORDERS/Pages/trisomy-13-patau-syndrome.aspx )

What support resources are available for women during their pregnancy who are expecting a baby affected by Trisomy 13?

If a diagnosis of trisomy 13 has been confirmed through amniocentesis or CVS, support resources are available to help them as they carry their baby until birth. One of the best sources of support is perinatal hospice. Some areas have a perinatal hospice program associated with their medical centers or nearby. One such listing can be found on PerinatalHospice.org (http://www.perinatalhospice.org/list-of-programs.html). This same website provides lists of support, parent stories, birth plans, and suggestions that can be very helpful at http://www.perinatalhospice.org/resources-for-parents.html. Specific to families whose unborn baby has been diagnosed with a trisomy like trisomy 13, the SOFT organizations in the United States and United Kingdom have practical suggestions, support, stories, and ideas on their websites on pages such as http://www.soft.org.uk/Help-for-Families/Decisions-During-Pregnancy/Continuing-with-your-Pregnancy. It can be very helpful to talk to another family who has been in a similar situation and carried their baby with trisomy 13 until birth. Feel free to talk with your OB-Gyn, genetic counselor, or reach out to SOFT if you are interested in talking with another family.

What specialists do people with Trisomy 13 need to see?

A multidisciplinary team should care for people with trisomy 13. People with trisomy 13 should see a geneticist or a genetic counselor. A genetic counselor can help to further explain trisomy 13 and answer any questions you have. Genetics professional can also help you make the appropriate next referrals. Through the National Society of Genetic Counselors (NSGC) website, you can find a genetic counselor in your area ( http://nsgc.org/p/cm/ld/fid=164 ). Other necessary specialists will be dependent on what symptoms a child has, but some may be pediatric cardiologists, ear, nose and throat (ENT) specialists, neurologists, physical therapists, and surgeons.

What organizations are out there to help parents of a child with Trisomy 13 with the perinatal period?

SOFT (Support Organization for Trisomy) has gathered a list of organizations that can help parents during this time ( http://trisomy.org/?page_id=5085 ). Northside Hospital in Atlanta, GA has H.E.A.R.T. Strings Perinatal Bereavement Office that gathers a list of resources as well ( http://www.northsidepnl.com/our-favorite-resources.html ).

What is Trisomy 13?

Trisomy 13 is a chromosomal condition associated with severe intellectual disability and physical abnormalities in many parts of the body. Babies with trisomy 13 often have heart defects, brain or spinal cord abnormalities, very small or poorly developed eyes (microphthalmia), extra fingers or toes, an opening in the lip (a cleft lip) with or without an opening in the roof of the mouth (a cleft palate), and weak muscle tone (hypotonia). Due to the presence of several life-threatening medical problems, many infants with trisomy 13 die within their first days or weeks of life. Only five percent to 10 percent of children with this condition live past their first year.

Babies with trisomy 13 have an extra copy of chromosome 13. Humans typically have 46 chromosomes (23 pairs) in every cell in their body. Humans generally have two copies of every chromosome, including chromosome 13. Chromosomes are made up of genes. Duplicating or deleting genes can cause health problems. People with trisomy 13 have three copies of chromosome 13, and have an extra set of all the genes located on this specific chromosome. Having a whole extra chromosome means there are a lot of genes with the wrong dosage (three copies instead of two copies). The extra genetic material leads to the serious health problems seen in Trisomy 13.

What is the difference between Trisomy 13 and mosaic Trisomy 13?

When someone has three copies of chromosome 13 in all of their cells, they have complete trisomy 13. Around 95% of children with a diagnosis of trisomy 13 are thought to have complete trisomy 13. The other 5% have mosaic trisomy 13. This means that some of their cells have the normal 2 copies of chromosome 13, and other cells have 3 copies of chromosome 13.

What is the controversy on performing surgery on children with Trisomy 13?

Historically, it has been a challenge for parents of children with trisomy 13 to acquire some necessary interventions needed to extend life. This could be surgically correcting a heart defect or even resuscitating (reviving to prevent death) a child with trisomy 13. There has been more push back to these conventions in recent years. The main arguments for minimal intervention include:

What is the chance to have another child with Trisomy 13?

If neither parent has a chromosome rearrangement, the chance to have a second baby with trisomy 13 is thought to be low, but not impossible. If there is a suspicion of trisomy 13 in a baby, it is important to confirm this with genetic testing so the most accurate recurrence risk (the chance that the couple will have another baby with the same condition) can be provided. There is around a 1% chance to have a second child with trisomy 13 or another trisomy, such as trisomy 21 or trisomy 18. The chance to have a child with trisomy 13 increases as a women ages. Even though trisomy 13 is rare, it is seen more frequently in babies born to women in their late 30s and early 40s, as compared to babies born to younger women. Prenatal testing is available and is generally offered to interested parents through their healthcare providers caring for them during pregnancy. Prenatal genetic counselors can also provide individualized information about the possibility of having another pregnancy with a chromosome problem.

What is the chance for a pregnancy with Trisomy 13 to miscarry?

A large number of babies with trisomy 13 will die while still in the mother’s womb and be born still. Studies suggest a 44-66% risk for fetal death in utero when the baby has trisomy 13, most often late in the 2nd trimester or early in the 3rd trimester of pregnancy. The chance for survival to delivery increases with gestational age.

What is pseudotrisomy 13 syndrome?

Pseudotrisomy 13 syndrome is also called holoprosencephaly-polydactyly syndrome. Babies with pseudotrisomy 13 syndrome often have holoprosencephaly which means that their brains have not developed properly. The brain is supposed to divide into two halves, but this distinction does not completely finish in people with holoprosencephaly. People with polydactyly have more than 10 fingers or toes.

What genetic change causes Trisomy 13?

People with trisomy 13 have an extra copy of chromosome 13. Humans are expected to have 46 chromosomes (23 pairs) in every cell in their body. They are labelled with numbers (chromosome 1, chromosome 2, chromosome 3, etc.) Humans generally have two copies of every chromosome, including chromosome 13. Chromosomes are made up of genes. Duplicating or deleting genes can cause health problems. People with trisomy 13 have three copies of chromosome 13, and have an extra set of all the genes located on this specific chromosome. Having a whole extra chromosome means there are a lot of genes with the wrong dosage (three copies instead of two copies). The extra genetic material typically leads to serious health problems.

What does having an extra chromosome in Trisomy 13 cause?

Chromosomes are made up of genes, and genes act as instructions for the body. Extra or missing genetic information can lead to health problems, because there are altered instructions for the cells of the body. Adding an extra, complete copy of chromosome 13 can cause heart defects, intellectual disability, birth defects of the brain and face, growth problems and other health problems.

What are the main signs and symptoms of trisomy 13?

Babies with trisomy 13 often have heart defects like atrial septal defect (ASD), ventricular septal defect (VSD), patent ductus arteriosus (PDA), coarctation of the aorta, or dextrocardia (heart is located on right side of the body instead of the left). Kidney and brain abnormalities are seen as well. Babies are thought to be deaf (non-hearing) and can have episodes of apnea (where breathing stops), seizures, and feeding difficulties. Babies who survive after birth generally have severe intellectual disability. There are physical features often seen in babies with trisomy 18 such as extra fingers/toes (polydactyly), small head size (microcephaly), openings in the palate (cleft palate), small jaw, and low set ears. Genital abnormalities like undescended testes in males (cryptorchidism) and underdeveloped ovaries have been seen.

What are the common findings on ultrasound for Trisomy 13?

It is not uncommon for babies with trisomy 13 to have abnormal ultrasound findings. The discovery could vary from inadequate growth (intrauterine growth restriction) to a heart defect. Other findings could be hydrocephalus (build up of fluid in the brain) or oligohydramnios (too little amniotic fluid surrounding the baby). Some babies with trisomy 13 have an abdominal defect which leads to some of the baby’s intestines being outside of the body. This is called an omphalocele, and is easily seen on a prenatal ultrasound.

What are some resources to help me capture and remember my child with Trisomy 13?

The Angel Pics Project ( http://www.babyangelpics.com ) Casting Keepsakes ( http://www.castingkeepsakes.com ) The Kendall Keepsake Foundation ( http://www.kendallkeepsake.org/About.php ) Molly Bears ( http://www.mollybears.com ) Now I lay me down to sleep ( https://www.nowilaymedowntosleep.org )

Is Trisomy 13 inherited?

In most cases, trisomy 13 is not inherited. Trisomy 13 most often occurs because of a random mistake in the division of egg or sperm cells. However, trisomy 13 can be inherited if a parent has a rearrangement of chromosome material that involves chromosome 13. This rearrangement can also be called a “balanced translocation”. Humans generally have 46 chromosomes (23 pairs) in every cell in their body. We label them chromosome 1, chromosome 2, chromosome 3, etc. Humans generally have two copies of every chromosome, including chromosome 13. Sometimes bits of chromosomes can swap places. For example, the top of one chromosome 2 and the top of one chromosome 13 could switch places. The swap is called a translocation or a rearrangement. A person with that particular translocation would have a balanced translocation, because they aren’t missing any genetic information. That person’s children would have an increased chance to inherit a chromosome abnormality though, like partial trisomy 13. Analyzing a parent’s chromosomes can determine whether a parent has a balanced translocation. Balanced rearrangements are identified in about 1/1000 individuals, usually through the birth of a baby with an unbalanced chromosome condition.

Is there variable expression in Trisomy 13?

There can be variable expression amongst people with trisomy 13. Babies with trisomy 13 will likely not have every possible symptom. Certain symptoms, like intellectual disability, are predicted to be found in most babies with trisomy 13. Degree of symptom severity may depend on how many cells in the body have three copies of chromosome 13. The term mosaicism is used if not all cells in the body have three copies of chromosome 13. Typically, only blood cells are tested to diagnosis trisomy 13. Some medical professionals believe that individuals with less severe trisomy 13 may have some cells with only 2 copies of chromosome 13 but this is hard to prove since samples of tissue from other parts of the body are not easily available to test. For example, a sample of heart tissue would never be taken from a living person to test the idea that mosaic trisomy is lessening the effects of the condition in a given individual.

Is there newborn testing for Trisomy 13?

As of January 2016, trisomy 13 is not on the Recommended Uniform Screen Panel (RUSP). The RUSP is created by the Health Resources and Services Administration. Individual States refer to this list to guide what conditions are included on their newborn screening panels. Generally, newborn testing tries to identify babies who have rare conditions and outcomes are improved with prompt diagnosis and therapy. Because babies with trisomy 13 typically have structural birth defects, identification after birth is not improved with broad-based testing.

Is there more than one type of test for Trisomy 13?

There are a few types of genetic tests that can diagnose Trisomy 13. Trisomy 13 can be diagnosed through fluorescence in situ hybridization (FISH) testing, karyotype, or chromosomal microarray. The basic test is called a karyotype, where the chromosomes are counted and examined in a laboratory called a cytogenetic lab. This test takes about 7-10 days for a result. A rapid, preliminary test for trisomy 13 is called fluorescence in situ hybridization or FISH. This test uses a brightly colored probe to quickly count the number of copies of a given chromosome and can provide an early result in 2-3 days. A newer way to examine genetic material is called a chromosome microarray, which looks for extra or missing pieces of genetic material. This test can also be used to diagnose trisomy 13. Your healthcare provider may order one type of test or another based on turnaround time, the capability of their genetics laboratory and how strong his/her suspicion is for trisomy 13.

Is there clinical research happening on Trisomy 13?

There are many ongoing research studies to improve prenatal tests for chromosome conditions such as trisomy 13. There is research being conducted on Trisomy 13. Clinical trial information can be found on the ClinicalTrials.gov website. SOFT (Support Organization for Trisomy) provides information on research as well.

Is there a treatment for Trisomy 13?

There is no treatment that can cure trisomy 13. Certain symptoms may have treatments available. For example, if a baby has a cleft lip, surgeons can repair that defect. However, treating a specific problem will not cure trisomy 13 and may or may not prolong life. Your healthcare provider can help you find services to improve feeding ability. Surgical intervention may be necessary too. Other supportive services and therapies, like physical therapy or individualized education plans, may be helpful to some children.

Is termination of the pregnancy, or abortion, an option if my baby has Trisomy 13?

If a diagnosis of trisomy 13 has been confirmed through amniocentesis or CVS, some families will consider termination. This can be the right decision for some families despite it possibly being very difficult. Different states will have restrictions on when a pregnancy termination procedure can be performed. A reproductive genetic counselor can help you better understand the options for your specific state. FindLaw is an online service that describes the laws regarding abortion for different states ( http://statelaws.findlaw.com/family-laws/abortion.html ). This can be a useful starting point for understanding the laws in your state. It is important to note though that new laws/restrictions are continually being enacted so the information on this site may not be up to date.

Is prenatal testing available for Trisomy 13?

Prenatal testing is available for trisomy 13. With prenatal diagnosis, baby DNA is tested during the pregnancy to determine whether the baby has trisomy 13. The fetal DNA sample is gathered through either an amniocentesis or chorionic villus sampling (CVS). An amniocentesis involves collecting some of the amniotic fluid surrounding the baby with a needle guided by an ultrasound. Fetal skin cells are in that fluid. A CVS involves collecting some of the placental cells, which typically are the same as the cells of the baby. A CVS procedure can be performed as early as 11 weeks of the pregnancy while an amniocentesis is generally offered after 15 weeks of the pregnancy.

Some families may like to have a diagnosis before birth to help them prepare for the delivery. Other families may make a decision about termination from prenatal diagnostic testing results. There are benefits, limitations, and risks to both of these procedures.

Is preimplantation genetic diagnosis available for Trisomy 13?

Preimplantation genetic diagnosis (PGD) is available for trisomy 13. PGD allows for parents to only implant embryos into the mother’s uterus that do not have trisomy 13. PGD is an option when mothers are using in vitro fertilization (IVF). A woman’s egg cells are retrieved and fertilized in a petri dish with sperm cells. After growth for 3-5 days, one cell can be biopsied, and the genetic make up can be studied. Embryos with trisomy 13 (or other chromosome problems) would not be used for implantation into the mother’s uterus, thereby minimizing the chances of having a baby affected with trisomy 13. IVF and PGD can be costly (both financially, time consuming and emotionally) but for families with infertility, these procedures can help them have healthy babies. IVF is not guaranteed to lead to pregnancy every time.

I lost a baby to Trisomy 13, should I try to conceive again?

The loss of any pregnancy is devastating and then to have unanswered questions in your mind about chromosomes and age probably doesn’t help. Here are some thoughts for you that hopefully will ease your mind a little. The first is that women and couples of all ages can have babies with extra chromosomes. In fact, many people well under 35 years old who have experienced miscarriages in the first 13 weeks of pregnancy have had babies with extra chromosomes that wasn’t diagnosed. The ability to do a more reliable blood test for chromosomes has changed our ability to understand how many more babies actually have extra chromosomes over the past few years due to [section id="383″ target=”_blank”>NIPT[/section]. The second is that crossing the "35 line" does not mean all your eggs have extra chromosomes.

The best thing would be to talk to a genetic counselor in your area. The genetic counselor can look at your baby’s results, talk to you about the type of Trisomy 13 that he had, talk about preconception/prenatal testing, and then discuss the chance of it happening again. You are not too old to have another baby, but you need to go in "armed with knowledge" that a genetic counselor can give you. (Take a look at "Find a Genetic counselor" in your area http://nsgc.org/p/cm/ld/fid=164 )

There are some amazing folks out there who have lost a baby to Trisomy 13 and are very open to talking to you at support sites like SOFT (http://trisomy.org/).

If you are a reader, there are a few books that can be so helpful during a time of loss: Sunshine After the Storm: A Survival Guide for the Grieving Mother (https://www.amazon.com/gp/product/0989934713/ref=as_li_tl?ie=UTF8&camp=1789&creative=%20%20%20%20%20%20%20%20%20%20%20%20%20%20%20%209325&creativeASIN=0989934713&linkCode=as2&tag=aheartbreakingchoice-20&linkId=LLH4HHIDFYC253AD)

Empty Arms: Coping With Miscarriage, Stillbirth and Infant Death (https://www.amazon.com/gp/product/0960945660/ref=as_li_tl?ie=UTF8&camp=1789&creative=%20%20%20%20%20%20%20%20%20%20%20%20%20%20%20%209325&creativeASIN=0960945660&linkCode=as2&tag=aheartbreakingchoice-20&linkId=2GEPDCBQDV4UQZ7A)

How long can a baby live with Trisomy 13?

The answer to this question can vary considerably. The heart defects and other health problems associated with trisomy 13 can make it difficult for babies to survive. Some babies with trisomy 13 will die in utero before they are born. Other times, babies make it to delivery but they pass away a few hours or days later. A study of 693 babies born with trisomy 13 between 1999-2007 reported that ~75% survived to one day, ~25% survived to 28 days and 9.7% survived to 5 years.

How is Trisomy 13 most often caused?

Trisomy 13 most often occurs randomly as sperm and eggs are created, most commonly due to a process called nondisjunction. Humans generally have 46 chromosomes (23 pairs) in every cell in their body. When a woman’s eggs are made, each egg generally has one copy of each of the 23 chromosomes. The same is true for sperm. The 23 copies from the sperm and the 23 copies from the egg then combine to create an embryo with 46 chromosomes (23 pairs). When nondisjunction happens, an egg or a sperm is created with 2 or 0 copies of a given chromosome instead of the usual 1. If an egg with two copies of chromosome 13 combines with a sperm with 1 copy of chromosome 13, the embryo can develop into a baby who will have trisomy 13.

How do I give money to help research in Trisomy 13?

There are multiple ways to help this community through financial contribution. You can donate to a support group like the SOFT: Support Organization for Trisomy ( http://trisomy.org ) or Chromosome Disorder Outreach ( http://www.chromodisorder.org ). Support groups will use their funds differently. Some will help to raise awareness, assist people with trisomy 13, or donate to medical research.

How do I find someone who specializes in Trisomy 13?

Most academic health centers have medical geneticists and pediatricians who are most familiar with the care of individuals with trisomy 13. Your local healthcare provider will be aware of the nearest specialist for an individual with trisomy 13.

Through the National Society of Genetic Counselors (NSGC) website, you can find a genetic counselor in your area ( http://nsgc.org/p/cm/ld/fid=164 ). A genetic counselor can help to further explain trisomy 13 and answer any questions you have.

How do I find clinical research in Trisomy 13?

ClinicalTrials.gov can provide up-to-date information on research being conducted. SOFT (Support Organization for Trisomy) provides information on research as well ( http://trisomy.org/?page_id=3111 ).

How do babies get tested for Trisomy 13?

There are a few types of genetic tests that can diagnose trisomy 13. After birth, trisomy 13 can be diagnosed by examining the cells from a blood sample. The basic test is called a karyotype, where the chromosomes are counted and examined in a laboratory called a cytogenetic lab. This test takes about 7-10 days for a result. A rapid, preliminary test for trisomy 13 is called fluorescence in situ hybridization or FISH. This test uses a brightly colored probe to quickly count the number of copies of a given chromosome and can provide an early result in 2-3 days. A newer way to examine genetic material is called a chromosome microarray, which looks for extra or missing pieces of genetic material. This test can also be used to diagnose trisomy 13.

Before the baby is born, these same tests can be completed on a sample of amniotic fluid, which contains skin cells from the baby. A physician would use a procedure called an amniocentesis to withdraw a small amount of fluid from around the baby for genetic testing. Another way to use these tests during pregnancy is chorionic villus sampling (CVS). In this procedure, a physician obtains a small sample of the placental tissue. The placenta and the baby come from the same fertilized egg, so performing genetic testing on the placental cells should give the same results as testing the baby.

How common is Trisomy 13?

Around 1 in every 10,000 to 1 in 12,000 babies born has trisomy 13. Trisomy 13 is considered a rare condition. However, it occurs more often to babies born to older women, as compared to babies born to younger women. In other words, trisomy 13 is related to maternal age. Trisomy 13 is seen in all populations and is not related to ethnicity.

How common are heart defects in patients with Trisomy 13?

Around 80% of babies with trisomy 13 are born with some kind of heart defect. Some of these are more severe than others. Atrial septal defect (ASD) and ventricular septal defect (VSD) are common; these are small holes in the membranes that separate the heart chambers. People with a patent ductus arteriosus (PDA) have an opening between the major arteries that interact with the heart. Coarctation of the aorta is another common defect, and means that the aorta is constricted or too narrow for proper blood flow. Dextrocardia, which can also found in babies with trisomy 13, is when the heart is located on right side of the body instead of the left. To learn more about heart defects, you can read [link url="www.nhlbi.nih.gov/health/health-topics/topics/chd” target=”_blank”>this article from the National Heart, Lung and Blood Institute.

Can noninvasive prenatal testing (NIPT) be used for Trisomy 13?

Noninvasive prenatal testing (NIPT) is available for trisomy 13. NIPT is a screening option for pregnant women. This newer blood screening test has been available since 2013. Most laboratories offering this test state that the test identifies about 90% of pregnancies affected with trisomy 13. This test evaluates pieces of placental DNA that are outside of cells and are in the mother’s blood. Parents are recommended not to make permanent decisions about the pregnancy solely based on NIPT results. Diagnostic testing like chorionic villus sampling (CVS) or amniocentesis can confirm or rule out a screen result. More research needs to be conducted to better understand and improve the accuracy of this test.

Are there other names for Trisomy 13?

Trisomy 13 can also be called Patau syndrome or Bartholin-Patau syndrome.

Are there good support groups for Trisomy 13?

There are good support groups for Trisomy 13. They include:

Are there earlier onset or later onsets of Trisomy 13?

The extra copy of chromosome 13 is present in the baby’s cells from early in prenatal development. Some symptoms of trisomy 13 are revealed through prenatal ultrasounds or prenatal testing. Babies with complete trisomy 13 will almost always have symptoms before birth, such as growth being slower than expected while in the womb. There is no "late onset" form of Trisomy 13.

Are there certain facial features associated with Trisomy 13?

Some babies with trisomy 13 have similar facial features. These can include small eyes (microphthalmia), openings in the lip or roof of the mouth (cleft lip/ palate), small head size (microcephaly), a broad, flat nose, eyes slightly farther apart than normal (ocular hypertelorism), and low set ears. Some babies with trisomy 13 may have missing eyes, or the nose may be misplaced on the face.

Are there any support resources for women who have terminated a baby with Trisomy 13?

There are support groups for women who have decided to not continue a pregnancy for a baby with trisomy 13. They include: A Heartbreaking Choice ( http://www.aheartbreakingchoice.com ) Our Heartbreaking Choices ( http://www.ohcbook.com/support-resources/online-grief-and-loss-support/ ) Ending a Wanted Pregnancy ( http://endingawantedpregnancy.com )

Are there any other diseases that look a lot like Trisomy 13?

Trisomy 18 may sometimes look like trisomy 13.

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This chromosomal disorder is characterized by specific midline dysmorphic features and organ malformations. Usually leading to death before 6 months of life.

Cranial asymmetry, microphthalmia, hypotelorism, and cleft lip and palate in an infant with trisomy 13. The rash in the midface is caused by an allergic reaction to the tape used to secure the endotracheal tube.

Patau Syndrome; Bartholin-Patau Syndrome; Trisomy D (Trisomy 13s).

First described by Thomas Bartholin in 1657, but recognized as a clinical syndrome when the trisomy etiology was discovered by Klaus Patau in 1960.

1:4000 to 1:10,000 live births. Age of onset: newborn. Risk factors include advanced age of mother. Sex distribution is equal.

In 75% of cases, it is manifested by a trisomy of chromosome 13, caused by meiotic nondisjunctions. Translocations (20% of cases) are also present and either associated with de novo or familial translocation with a recurrence rate of 5 to 15%. The presence of mosaicism (5%) is a result of postzygotic (postfertilization) mitotic nondisjunction; however, it is less severe than full trisomy 13, but quite variable.

A single defect during the first 3 weeks of development of the prechordal mesoderm can lead to morphologic defects of the midface, eyes, and forebrain, as well as induction defects on the prosencephalon (cerebral hemispheres, diencephalon, hypothalamus, thalamus), leading to holoprosencephaly.

Diagnosis can be evocated by the characteristic features, including microcephaly, microphthalmia, hypertelorism, cleft lip or palate, polydactyly, cardiovascular, and genitourinary and neurological abnormalities. It is confirmed by karyotype. Death often occurs before 6 months of age.

This severe disease is most often associated with midline defects: mental retardation with head malformations (microcephaly; cranial asymmetry; arhinencephaly; holoprosencephaly; cerebellar malformations; corpus callosum agenesis; neural tube defects; anencephaly; seizures; sloping forehead; wide sagittal suture and fontanels; cebocephaly; premaxillary agenesis; scalp defects; dysplastic low-set ears; microphthalmia; hypertelorism or hypotelorism; coloboma; retinal dysplasia orbital; cyclopia; choanal agenesis; cleft lip or palate) and skeleton anomalies (polydactyly of the fingers and toes, ectrodactyly, valgus deformity, spina bifida, hyperconvex narrow fingernails) are also observed. Abdomen and pelvis (Meckel diverticulum; intestinal malrotation; mobile cecum; hypoplastic penis and scrotum; cryptorchidism; bicornis uterus; microcystic and hyperlobulated kidneys; megaureter; hydronephrosis; umbilical hernia; and single umbilical artery) and thoracic organs (atrial septal defect, ventricular septal defect, coarctation of the aorta, bicuspid aortic valve, bilobed lung) are also involved. Apnea, feeding difficulty, and deafness are common.

Evaluate cardiac function (clinical, echocardiography, ECG), renal function (echography, CT, urea, creatinine, electrolytes), and neurological function (clinical, CT scan, MRI, EEG).

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Rising numbers of americans say jews and muslims face a lot of discrimination, most u.s. adults think speech related to israeli and palestinian statehood should be allowed, but not calls for violence.

Pew Research Center conducted this survey to explore the U.S. public’s views on discrimination and free speech in the context of the Israel-Hamas war. We surveyed a total of 12,693 U.S. adults from Feb. 13 to 25, 2024. Most of the respondents (10,642) are members of Pew Research Center’s American Trends Panel, an online survey panel recruited through national random sampling of residential addresses, which gives nearly all U.S. adults a chance of selection.

The remaining 2,051 respondents are members of three other survey panels – Ipsos’ KnowledgePanel, SSRS’s Opinion Panel, and NORC at the University of Chicago’s AmeriSpeak Panel – who were interviewed because they identify as Jewish or Muslim.

We “oversampled” (i.e., interviewed a disproportionately large number of) Jews and Muslims to provide more reliable estimates of their views on the topics covered in this survey. But these groups are not overrepresented in the national estimates reported here, because we adjusted for the oversampling in the weighting of the data. The survey is weighted to be representative of the U.S. adult population by gender, race, ethnicity, partisan affiliation, education, religious affiliation and other categories. In total, 1,941 Jewish and 414 Muslim respondents participated in this survey.

While the sample design was identical for Jews and Muslims, the resulting sample sizes are different. There are two main reasons for this. The Jewish population in the United States is roughly double the size of the Muslim population . Consequently, national survey panels have roughly twice as many or more Jewish panelists as Muslim ones. In addition, decades of research on survey nonresponse has shown that some groups in the U.S. are more likely to participate in surveys than others. Generally speaking, Jewish adults are more likely to participate in surveys than Muslim adults.

The survey also included questions about where people were born and whether people identify as Arab or of Arab origin. Because of insufficient sample size, we are unable to analyze Arab Americans or Americans of Israeli or Palestinian descent separately.

In this survey, Jews and Muslims are defined as U.S. adults who answer a question about their current religion by saying they are Jewish or Muslim, respectively. Unlike our 2020 report on Jews in America , this report does not separately analyze the views of “Jews of no religion” (i.e., people who identify as Jewish culturally, ethnically or by family background but not by religion).

For more information on how we conducted this survey, refer to the ATP’s Methodology and the Methodology for this report . Read the questions used in this report , along with responses.

Chart shows the share of Americans who say Jews face a lot of discrimination has doubled since 2021

The share of U.S. adults who say there is a lot of discrimination against Jews in our society has doubled in the last three years, according to a new Pew Research Center survey, jumping from 20% in 2021 to 40% today. A somewhat larger share – 44% – say Muslims face a lot of discrimination, up 5 percentage points since 2021.

Many Americans particularly sense that discrimination against Muslims and Jews has risen since the start of the Israel-Hamas war. The vast majority of U.S. Muslims and Jews themselves agree: Seven-in-ten Muslims and nine-in-ten Jews surveyed say they have felt an increase in discrimination against their respective groups since the war began in October.

The survey, conducted Feb. 13-25 among a nationally representative sample of 12,693 U.S. adults that includes an oversample of American Jews and Muslims, also probed the public’s views on the limits of free speech related to the war.

It finds that Americans are broadly comfortable with speech both for and against Israeli and Palestinian statehood. But most U.S. adults are not OK with calls for violence against Jews or Muslims.

Pew Research Center surveys conducted on our American Trends Panel (ATP) always include Jews and Muslims. But these surveys do not always have enough Jewish or Muslim respondents to report their answers separately. This is because they make up relatively small shares of the U.S. adult population: Roughly 2% of Americans say their religion is Judaism , and 1% say their religion is Islam .

To provide more reliable estimates of Jewish and Muslim views on the topics covered in this survey, we included Jewish and Muslim respondents from three other national panels run by large research organizations (Ipsos, NORC and SSRS). All these panels are probability based, meaning they use random sampling methods to recruit respondents. They are not “opt-in” polls . In total, 1,941 Jewish and 414 Muslim respondents participated in this survey.

In this report, Jews and Muslims are defined as U.S. adults who answer a question about their current religion by saying they are Jewish or Muslim, respectively. Unlike our 2020 report on Jews in America , this report does not analyze the views of “Jews of no religion” (i.e., people who identify as Jewish culturally, ethnically or by family background but not by religion).

While the sample design was identical for Jews and Muslims, the resulting sample sizes are different. There are two main reasons for this. The Jewish population in the U.S. is roughly double the size of the Muslim population . Consequently, national survey panels have roughly twice as many or more Jewish panelists as Muslim ones. In addition, decades of research on survey nonresponse has shown that some groups in the U.S. are more likely to participate in surveys than others. Generally speaking, Jewish adults are more likely to participate in surveys than Muslim adults.

Chart shows most Americans say speech supporting or opposing Israeli and Palestinian statehood should be allowed, but calls for violence should not

70% say expressing support for “Israel’s right to exist as a Jewish state” should be allowed.
58% say expressing opposition to Israel’s right to exist should be allowed.
66% say speech supporting “Palestinians having their own state” should be allowed.
61% say speech opposing a Palestinian state should be allowed.
One-in-ten say calls for violence against either Jews or Muslims should be allowed.

On the questions about speech related to statehood, substantial shares of respondents are not sure. For example, 23% say they aren’t sure whether speech opposing Israel’s right to exist as a Jewish state should be allowed. And 25% say they aren’t sure whether speech opposing Palestinian statehood should be allowed.

When it comes to speech advocating violence, however, there is less uncertainty. Roughly three-quarters of Americans say that calls for violence against either Muslims or Jews should not be allowed.

The survey comes amid a flurry of news reports about antisemitic and anti-Muslim incidents in the United States, especially on college campuses , where fierce debates have erupted over the limits of free speech . For many Jewish and Muslim Americans, these debates are not just ideological, but personal:

74% of U.S. Jews and 60% of U.S. Muslims surveyed say they have felt offended by something they saw on the news or social media about the Israel-Hamas war.
27% of Muslims and 26% of Jews in the survey say they have stopped talking to someone in person – or unfollowed or blocked someone online – because of something that person said about the war.

A previous Pew Research Center report, based on the same survey, examined the U.S. public’s views on the war, including questions about:

The acceptability of Hamas’ Oct. 7 attack and Israel’s military response
Americans’ attention to the war
Americans’ knowledge about the war
The emotions the conflict has unleashed

In this report, we focus on perceived levels of discrimination against Jews, Muslims and Arab people in the U.S. For context, we analyze perceptions of discrimination against other religious, racial and ethnic groups, including evangelical Christians and Asian, Black, Hispanic and White Americans ( Chapter 1 ).

We also delve into public attitudes toward speech related to the war, including how these views vary by age, education, political partisanship and other demographic factors ( Chapter 2 ).

How much discrimination do U.S. Jews and Muslims see against their own group?

The vast majority of U.S. Muslims surveyed (85%) say there is at least some discrimination against Muslims in our society today, including 67% who say there is a lot . Overall, Muslim respondents are more likely to feel there is at least some discrimination against their own religious group than to say the same about Jews (50%).

Chart shows Most Jews, Muslims perceive a lot of discrimination against their own group

An overwhelming majority of U.S. Jews (94%) say there is at least some discrimination against Jews in our society, including 72% who say there is a lot . And more say there is a lot of discrimination against Jews than say the same about Muslims (57%).

For Jews, this represents a shift: In our 2020 and 2013 surveys of American Jews, they were more likely to say that Muslims (as well as Black people) face a lot of discrimination than to say this about themselves. 1

Chart shows Most Jews, Muslims say discrimination against them has increased since the start of the Israel-Hamas war

The change in Jewish Americans’ perceptions appears to be tied, at least in part, to the conflict in the Middle East: 89% of Jewish respondents say they have perceived a rise in discrimination against Jews since the start of the Israel-Hamas war.

They are not alone in feeling the effects of the conflict. Seven-in-ten Muslim respondents say discrimination against Muslims has risen since the start of the war. (Jewish and Muslim Americans are also paying greater attention to news about the Israel-Hamas war than most other Americans.)

In addition, most Muslims and nearly half of Jews say discrimination has increased against Arabs since the war began.

Unlike most U.S. polls, this survey has enough Jewish and Muslim respondents to allow their opinions to be broken out separately . Although Arab Americans also are included in the survey, there are not enough of them to reliably represent the views of Arab Americans as a whole. All three groups are very small in proportion to the overall U.S. population, which makes it hard to get a representative estimate through random sampling alone.

Free speech and the Israel-Hamas war

The survey included several questions to gauge tolerance for public speech about Israeli and Palestinian statehood, asking whether people in the U.S. should be able to express these sentiments – even if they might offend some people. Outright opposition to these expressions of opinion are relatively rare; instead, sizable shares say they are unsure. In contrast, most Americans say public speech calling for violence against Jews or Muslims should not be allowed.

Like the public overall, a large majority of U.S. Jews are in favor of allowing people to express support for Israel’s right to exist as a Jewish state (92%). Majorities of Jews also say speech either supporting (77%) or opposing (74%) Palestinians having their own state should be allowed. But Jews are less likely to say this about speech opposing Israel’s right to exist as a Jewish state: 55% say this kind of speech should be allowed, while 34% say it should not be allowed.

Similarly, a solid majority of U.S. Muslims say that speech supporting a Palestinian state should be allowed (70%). About half of Muslims say people should be allowed to express support for (47%) or opposition to (50%) Israel’s existence as a Jewish state. And 43% of Muslims say that speech opposing a Palestinian state should be allowed; 27% say this kind of speech should not be allowed, and 28% are unsure.

Chart shows Few Americans say calling for violence against Jews or Muslims should be allowed

Like many public attitudes toward the Israel-Hamas war, opinions on these issues vary depending on people’s age, political party and education:

Compared with other age groups, Americans 65 and older are more likely to say there is a lot of discrimination against Jews in our society today. Older Americans are far more likely to report an increase in discrimination against Jews than against Muslims or Arabs.
By contrast, Americans ages 18 to 29 are more likely to say that Black, Muslim, Arab and Hispanic people experience a lot of discrimination than to say the same about Jews. Adults under 30 are equally likely to perceive an increase in discrimination against Muslims, Arabs and Jews since the start of the Israel-Hamas war (47% each).
People ages 65 and older are the most likely to say they have felt personally offended by something they saw on the news or social media about the war (41%).
Adults under 30 are the most likely to say they stopped talking to someone, or unfollowed or blocked someone online, because of something that person said about the Israel-Hamas war (16%).

Partisanship

Democrats and Democratic-leaning independents are generally more likely than Republicans and Republican leaners to say there is a lot of discrimination against the groups asked about in the survey; Democrats are most likely to say there is a lot of discrimination against Black people (62%), Muslims (61%), Arab people (55%) and Jews (41%).
Republicans are most likely to say there is a lot of discrimination against Jews (40%), followed by Muslims (27%), evangelical Christians (24%) and White people (24%).
Democrats are about twice as likely as Republicans to say that, since the start of the Israel-Hamas war, discrimination has increased against Muslims (52% vs. 26%) and Arabs (49% vs. 23%).
Republicans (61%) and Democrats (57%) largely agree that discrimination against Jews has increased since the outbreak of the war.
Republicans and Democrats are also broadly in sync on the survey’s questions about speech. They largely are in favor of allowing expressions for or against statehood, but do not think calls for violence should be allowed.
Americans with at least a college degree are more likely than those with less education to say discrimination against Jews, Muslims and Arabs has increased since the start of the Israel-Hamas war.
People with at least a college degree are far more likely than those with less education to say that speech supporting and opposing Israeli or Palestinian statehood should be allowed. Those with lower levels of education are much more likely to say they are unsure.
The 2013 survey of Jewish Americans included a similar question about discrimination, but the response options were different. The 2020 survey response options were “A lot,” “Some,” “Not much” and “None at all,” while in the 2013 survey the response options were “Yes, there is a lot of discrimination” and “No, not a lot of discrimination.” Despite this change, both of these previous surveys found that more Jews perceived a lot of discrimination against some other minority groups than against Jews. ↩

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Table of contents, younger americans stand out in their views of the israel-hamas war, how u.s. muslims are experiencing the israel-hamas war, how u.s. jews are experiencing the israel-hamas war, majority in u.s. say israel has valid reasons for fighting; fewer say the same about hamas, how americans view the conflicts between russia and ukraine, israel and hamas, and china and taiwan, most popular.

About Pew Research Center Pew Research Center is a nonpartisan fact tank that informs the public about the issues, attitudes and trends shaping the world. It conducts public opinion polling, demographic research, media content analysis and other empirical social science research. Pew Research Center does not take policy positions. It is a subsidiary of The Pew Charitable Trusts .

COMMENTS

Trisomy 13
Trisomy 13 is a chromosomal aneuploidy originally described by Patau et al. in 1960.[1] The occurrence of trisomy 13 is 1 in 10,000 to 20,000 live births with antenatal mortality of over 95% of gestations.[2][3] It can occur as complete, partial, or mosaic expression.[1] The complete trisomy is the most common presentation representing about 80% of all patients. This expression ...
Multidisciplinary Guideline For Trisomy 13 And 18 Neonatal Care
Background/Objective: Historically, Trisomy 13 (T13) and Trisomy 18 (T18) have been considered "lethal" diagnoses with a limited life expectancy. Due to extensive comorbidities and perception of low quality of life (QOL), most T13 and T18 neonates have not been offered (or families have not pursued) neonatal intensive care or surgical interventions. With the observation of longer term ...
Management options and parental voice in the treatment of trisomy 13
Trisomy 13 and 18 are rare genetic conditions associated with high rates of congenital anomalies, universal profound neurocognitive deficits, and early death, commonly in the first month after birth.
Trisomy 13
Pediatr Rev (2023) 44 (1): 53-54. Trisomy 13 (T13), also known as Patau syndrome, is the third most common aneuploidy, with a live birth prevalence of 1 in 18,000. Often resulting from maternal meiotic nondisjunction, the risk of T13 increases with the mother's age. Prenatally, T13 is suspected with a concerning quad screen or noninvasive ...
PDF Perinatal Outcomes of Fetuses and Infants Diagnosed with Trisomy 13 or
The number of organ systems with at least one structural malformation seen on prenatal ultrasonography was higher for fetuses with trisomy 13. (Table 1) The incidence of congenital heart disease was similar between the two groups (71% versus 74% for trisomy. 13 versus 18, respectively). The specific congenital heart lesions identified during ...
Surveillance guidelines for children with trisomy 13
Trisomy 13 is one of the three most common aneuploidy syndromes in live-born infants. It is associated with mortality rates as high as 90% within the first year of life, in large part, due to the high prevalence of severe congenital abnormalities that increase mortality and morbidity.
Trisomy 13 (Patau Syndrome): Symptoms, Causes & Outlook
Trisomy 13 (Patau syndrome) is a rare genetic condition when an extra copy of chromosome 13 attaches to a pair of chromosomes. Symptoms affect how the face, brain and heart develop, along with several other internal organs. Trisomy 13 symptoms are life-threatening and many cases result in a miscarriage or the baby passing away before turning 1.
Surgical history and outcomes in trisomy 13 and 18: A thirty-year
Primary outcomes of interest were rates of mortality overall and after surgery. Factors that could predict mortality outcomes were also assessed. Results: One-hundred-seventeen patients were included, with 65% T18 and 35% T13. More than half of patients (65%) had four or more comorbidities. Most deaths occurred by three months at median 42.0 days.
Heart surgery could help babies with trisomy 13 and trisomy 18 live
For their study, researchers used data on nearly 1,600 trisomy 13 and 18 patients from 44 children's hospitals across the United States between 2004 and 2015. They found that heart surgery increased survival and hospital discharge on average from 33 percent to about 67 percent and that the benefit lasted through two years of follow-up ...
Trisomy 13
Trisomy 13 is a type of chromosome disorder characterized by having 3 copies of chromosome 13 in cells of the body, instead of the usual 2 copies. ... Clinical studies are medical research involving people as participants. There are two main types of clinical studies: ... Clinical trials determine if a new test or treatment for a disease is ...
Trisomy 13: MedlinePlus Genetics
Description. Trisomy 13, also called Patau syndrome, is a chromosomal condition associated with severe intellectual disability and physical abnormalities in many parts of the body. Individuals with trisomy 13 often have heart defects, brain or spinal cord abnormalities, very small or poorly developed eyes ( microphthalmia ), extra fingers or ...
Trisomy 13 Syndrome
Learn about Trisomy 13 Syndrome, including symptoms, causes, and treatments. If you or a loved one is affected by this condition, visit NORD to find resources ... Find Clinical Trials & Research Studies; For researchers. Request for Proposals; Research Grant Programs; ... New York, NY: Oxford University Press; 1990:40-43, 576, 579. JOURNAL ...
Patau syndrome
Patau syndrome is a syndrome caused by a chromosomal abnormality, in which some or all of the cells of the body contain extra genetic material from chromosome 13.The extra genetic material disrupts normal development, causing multiple and complex organ defects. This can occur either because each cell contains a full extra copy of chromosome 13 (a disorder known as trisomy 13 or trisomy D or ...
Research: Trisomy 13
Disease Researchers. Specialists who have done research into Trisomy 13. These specialists have recieved grants, written articles, run clinical trials, or taken part in organizations relating to Trisomy 13, and are considered knowledgeable about the disease as a result. The people in this list are filtered based on their research related to ...
Trisomy 13
Some common things that can be caused by trisomy 13 include: Heart problems. Brain and/or spinal cord problems. Eye problems. Extra fingers or toes. Cleft lip and/or cleft palate. Slow growth during pregnancy. Trisomy 13 also causes challenges after birth, such as:
Reaching Milestones, Defying the Odds
Born with trisomy 13 - a rare and life-limiting genetic disorder in which a baby has an extra 13th chromosome - Anna wasn't expected to live past her first month. But Anna's case proved to be comparably mild. And now one year later, she is defying the odds and opening presents. Daniel T. Swarr, MD, a neonatologist and geneticist who ...
Trisomy 13
There are many ongoing research studies to improve prenatal tests for chromosome conditions such as trisomy 13. There is research being conducted on Trisomy 13. Clinical trial information can be found on the ... It is important to note though that new laws/restrictions are continually being enacted so the information on this site may not be up ...
Trisomy 13
We have a new app! Take the Access library with you wherever you go—easy access to books, videos, images, podcasts, personalized features, and more. ... (5%) is a result of postzygotic (postfertilization) mitotic nondisjunction; however, it is less severe than full trisomy 13, but quite variable. + + A single defect during the first 3 weeks ...
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Fetal Care Patient Stories | Anna and Trisomy 13

With First Birthday, Anna Defies Odds of Trisomy 13

Despite her condition, Anna enjoys a good quality of life

In Megan's Own Words

On what she’d like people to know about trisomy 13:

On Cincinnati Children’s:

On how she felt the family's voices were heard by staff:

On doctors' honest expectations for Anna and her treatment:

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Frequently Asked Questions About Trisomy 13

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