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ABSTRACT Trisomy 13 (T13) is a rare autosomal aneuploidy. Greater than 90% of patients die during the first year of life. Malignancies reported in association with T13 include two cases of Wilms tumor and one case of pilocytic astrocytoma. There is no previous report of hepatoblastoma in patients with T13. We report a unique case of hepatoblastoma in a 15-month-old female with constitutional T13. Our patient was born at 38 weeks gestation and was noted to have phenotypic features consistent with T13. Genetic testing confirmed an abnormal karyotype of 47,XX,+13 in all cells. At fifteen months of age she was noted to have a right hepatic lobe mass on a routine follow-up renal ultrasound for hydronephrosis. Serum alpha-fetoprotein level was 55,300 ng/ml. Staging work-up revealed the absence of metastases. She underwent a complete surgical resection with right hepatic lobectomy. Histopathology was consistent with hepatoblastoma, mixed epithelial and mesenchymal type. She had a protracted postoperative course complicated by Enterobacter aerogenes urosepsis, a significant biloma, chronic pancreatitis, and apneic episodes of uncertain etiology. She received four courses of doxorubicin monotherapy without any severe or unexpected toxicity. She continues to be in remission 8 months following diagnosis. This is the first reported case of hepatoblastoma in a child with constitutional T13. This may represent a non-random association, as somatic trisomy of chromosome 13 in hepatoblastoma tumors has been previously described in the literature. Prolonged survival may have allowed for hepatoblastoma to present in our patient. © 2013 Wiley Periodicals, Inc. [ABSTRACT FROM AUTHOR]

Congestive heart failure is a major cause of early death in patients with trisomy 13 or 18 and congenital heart disease (CHD). Pulmonary artery banding for these patients early in life is preferred to protect the lungs from high pulmonary flow rates and improve survival. We performed open lung biopsies in 11 patients with trisomy 13 or 18 accompanied by CHD and severe pulmonary artery hypertension (PAH) between 2009 and 2011. Two (18.2%) of these 11 patients had medial defects of the small pulmonary arteries. One patient with trisomy 13 and an atrial septal defect developed lung hemorrhage and lung edema at the age of 9 months and died at the age of 13 months. The lumens of the small pulmonary arteries of the other patient with trisomy 18 and a ventricular septal defect became occluded due to the intimal proliferation of fibrous tissues at the age of 2 months. This patient died at the age of 27 months. The deaths of both patients were associated with heart-related factors. Patients with medial defects are vulnerable to intimal proliferation in the small pulmonary arteries. More patients with trisomy 13 or 18 and CHD might have similar pulmonary vascular changes. The small pulmonary arteries of patients with trisomy 13 and 18 should be further analyzed. © 2013 Wiley Periodicals, Inc. [ABSTRACT FROM AUTHOR]

Trisomy 13 and trisomy 18 (T13-18) are associated with high rates of perinatal death and with severe disability among survivors. Prenatal diagnosis (PND) may lead many women to terminate their pregnancy but some women choose to continue their pregnancy. We sent 503 invitations to answer a questionnaire to parents who belong to T13 and 18 internet support groups. Using mixed methods, we asked parents about their prenatal experience, their hopes, the life of their affected child, and their family experience. 332 parents answered questions about 272 children; 128 experienced PND. These parents, despite feeling pressure to terminate (61%) and being told that their baby would likely die before birth (94%), chose to continue the pregnancy. Their reasons included: moral beliefs (68%), child-centered reasons (64%), religious beliefs (48%), parent-centered reasons (28%), and practical reasons (6%). At the time of the diagnosis, most of these parents (80%) hoped to meet their child alive. By the time of birth, 25% chose a plan of full interventions. A choice of interventions at birth was associated with fewer major anomalies ( P < 0.05). Parents describe 'Special' healthcare providers as those who gave balanced and personalized information, respected their choice, and provided support. Parents make decisions to continue a pregnancy and choose a plan of care for their child according to their beliefs and their child's specific medical condition, respectively. Insights from parents' perspective can better enable healthcare providers to counsel and support families. © 2013 Wiley Periodicals, Inc. [ABSTRACT FROM AUTHOR]

Abstract This educational resource is organized as a case history with laboratory and ultrasound findings for discussion by a group of students. It is woven around a pregnancy with abnormal findings that are the result of Patau syndrome. Several fetal central nervous system (CNS) malformations are explored from a basic science, diagnostic, and counseling standpoint. This case study is designed to support basic science education in genetics and pathology disciplines and to integrate the use of diagnostic tools and testing in prenatal care to facilitate understanding of the application of basic science knowledge to patient care and counseling. This case study could be discussed in a minimum of 15 minutes if much of the information in the facilitator guide were given to the students for self-study. Most of the key concepts could be discussed within an hour. Facilitators can be directed to promote student discussion by asking the students to explain the findings and to compare and contrast CNS malformations and their causes. Educational goals include an understanding of genetic mechanisms, embryologic development, prenatal laboratory testing, and parental counseling regarding outcomes and options. The primary author field-tested a version of this exercise for 7 years (2002–2008) as part of a case-based learning module in genetic diseases, presented within a course teaching fundamentals of pathology in the second-year curriculum at the Florida State University School of Medicine. Suggestions for improvement by students and faculty have been incorporated to enhance its quality. Course evaluations by students in that venue pertinent to this group exercise ranged from 4.23 to 4.82 on a scale of 0 (worst) to 5 (best). Examination and quiz items scored in the 80% to 90% range.

Background Trisomy 18 (T18) and trisomy 13 (T13) are the second and third commonest autosomal aneuploidy syndromes respectively. While specific aspects of affected pregnancies have been documented in the literature, few studies document the overall natural history of the trisomies. This study aimed to examine the natural history (including diagnosis, pregnancy outcome, complications and survival) of T18 and T13 pregnancies in a setting where termination of pregnancy for fetal abnormality is not available. Methods Cases were identified using birth registers, labour ward records, annual reports, medical records, ultrasound reports and reports from prenatal genetic testing. All identified T18 and T13 pregnancies in the study region from 2001 to 2012 were included. Individual chart reviews were performed for each case. Data were analysed using SPSS Version 20. Results Forty-six T18 and twenty-four T13 pregnancies were identified. Most T18 cases (65%) were diagnosed prenatally, while only one third (33%) of T13 cases were prenatally diagnosed. Only three T18 pregnancies and one T13 pregnancy were electively terminated. A proportion of undiagnosed infants were delivered by emergency caesarean section. 48% (T18) and 46% (T13) infants survived following birth, for a median of 1.5 days (T18) and 7 days (T13). One T13 infant is currently alive over one year of age. Conclusions This large series provides information for professionals and women regarding the natural histories of trisomies 18 and 13. These pregnancies can go undiagnosed antenatally without routine anomaly scanning. While many fetuses die in-utero, postnatal survival is possible. [ABSTRACT FROM AUTHOR]

Children with trisomy 13 and trisomy 18 (T13 or T18) have low survival rates, and survivors have significant disabilities. Life saving interventions (LSIs) are generally not recommended by many healthcare providers (HCPs). After a diagnosis of T13 or T18, many parents chose termination of pregnancy or comfort care at birth, but others consider treatment to prolong the lives of their children. While LSIs may be effective at prolonging the life of some children, the quality of life of survivors and the possible burden on the family may be considered negatively by HCP, which may lead to conflicts with families. Resource allocation considerations are often invoked to withhold LSI for T13 or T18 even though they are seldom mentioned for older patients with comparable outcomes. Conclusion: We should strive to improve communication with parents by 1. Investigating these conditions further to be able to better inform parents and 2. Providing balanced information for families and personalised care for each child. [ABSTRACT FROM AUTHOR]

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Few cases of mosaicism involving a normal cell line and an unbalanced autosomal translocation have been reported so far. No cases of partial trisomy 13 and partial monosomy 8 mosaicism have been published. The authors report a new patient with partial trisomy 13 and partial monosomy 8 mosaicism due to an unbalanced translocation (13/8). A postzygotic mitotic exchange of nonhomologous chromatids followed by the loss of one of the translocated chromatids has been hypothesized as the potential underlying mechanism. Although a clear correlation of the clinical features of the patient with his chromosomal abnormality can be challenging, dysmorphic features, hyperactive behavior, moderate developmental delay, and tonic-clonic seizures can be interpreted as secondary to the particular genotype of the patient. These findings should be taken into account in the diagnostic process of patients presenting with multiple congenital anomalies and/or mental retardation conditions. [ABSTRACT FROM AUTHOR]

We present here a long survival case of a patient with the mosaic form of trisomy 13 who died of aspiration pneumonia at the age of 7 years and 4 months. The autopsy revealed olfactory aplasia and fenestration of the septum pellucidum, and dilated lateral ventricles and atrophic hippocampus. Furthermore, there were numerous 'torpedos' (i.e., swollen fusiform Purkinje cell axons), mostly in the granular layer underneath the Purkinje cell layer, and, occasionally, in the granular layer. Similar neuropathological findings have been reported in elderly cases of essential tremor, Parkinson's disease, or Alzheimer's disease. Precise mechanism for this axonal change is still unclear. These pathological changes have never previously been reported in the literature on trisomy 13, and the present patient is one of the oldest autopsied individuals with the mosaic trisomy 13. [ABSTRACT FROM AUTHOR]

Teratoid hepatoblastoma is a rare histological subtype of hepatoblastoma. A 15-month-old girl with full trisomy 13 presented with a liver mass (6 × 4.4 × 3.4 cm). Histological examination showed a teratoid hepatoblastoma with very different differentiation patterns intermixed with each other. Approximately 30% of the tumor demonstrated a primitive glandular epithelium component, which had a moderate to well-differentiated adenocarcinoma-like morphology, and features of mucinous epithelium with a biliary immunophenotype. We designated it as cholangioblastic component. The child received 4 cycles of monotherapy with doxorubicin after complete resection and showed no evidence of residual tumor 8 months after surgery. Our case is not only the 1st report of hepatoblastoma in trisomy 13 but also represents a unique example with a large glandular epithelium component with cholangioblastic features. Increased awareness of this entity and further molecular studies are needed for better understanding of the pathogenesis of teratoid hepatoblastoma. [ABSTRACT FROM AUTHOR]

The aim of this study is to determine the survival of live births with trisomy 18 and trisomy 13 and their variants. Information on live births with trisomy 18 or trisomy 13 recorded in the National Down Syndrome Cytogenetic Register (NDSCR) was linked by the NHS Information Centre to obtain information about survival. Survival was known for 326 (88%) of live births with trisomy 18 and 142 (82%) of live births with trisomy 13 born in England and Wales between 2004 and 2011. The median survival time for live births with full trisomy 18 was 14 days and with full trisomy 13 was 10 days, the 3-month survival was 20% and 18%, respectively, and the 1-year survival for both syndromes was 8%. The 1-year survival for live births with trisomy 18 mosaicism (n = 17) was 70%, for those with trisomy 13 mosaicism (n = 5) was 80% and for those with partial trisomy 13 (Robertsonian translocations) (n = 17) was 29%. This study is based on the largest data set on survival for live births with trisomy 18 and trisomy 13. Although median survival for these children is 2 weeks or less, about one in five survive for 3 months or more and about 1 in 12 survive for 1 year or more. We suggest that these survival rates are used in counselling as well as the median survival time. © 2013 Wiley Periodicals, Inc. [ABSTRACT FROM AUTHOR]

INTRODUCTION: Trisomy of chromosome 13, also known as Patau Syndrome, is a genetic disorder resulting from a supernumerary chromosome 13. It was discovered in 1960 by Patau and is currently reported less frequent trisomy in humans. It is usually associated with a maternal rather than paternal meiotic disorder and, like Down syndrome, its incidence increases with maternal age. Affected infants die shortly after birth, mostly before 3 months old. It is believed that 80-90% of affected fetuses do not reach term gestational age. CASE REPORT: The case of a male newborn with diagnosis of trisomy 13 is presented, with charasteristic features such as pink Tetrallogy of Fallot and laryngotracheomalacia. At birth, the patient manifests multiple complications related to his condition, altering the evolution and prognosis. Survival of the patient exceeded expectations, which is strictly related to the severity of cerebral, cardiac and renal malformations, which in turn is directly related to the degree of chromosomal alterations of the infant, with mosaicism being the less clinically affected. DISCUSSION: Recently the visibility of trisomy 13 cases have increased by more practiced in the diagnoses of the same and in addition to its survival by new interventions that have been discovered in medicine. [ABSTRACT FROM AUTHOR]

Background: The role of three-dimensional ultrasound in the prenatal diagnosis of orofacial clefts is increasing in recent time. Materials and Methods: We obtained three-dimensional data sets of the fetal face from 100 low-risk and 50 high-risk first-trimester fetuses to evaluate the offline reformatting accuracy of the retronasal triangle (RNT) using a novel reslicing technique. Results: Adequate volume data sets for offline analysis were captured in 98% of cases. The RNT view was reformatted in 96% of cases by offline analysis. The secondary palate could be assessed in 93% by offline analysis and an abnormal RNT in the coronal plane was detected in 2 cases of lethal aneuploidy. The false-positive rate was 1.33% in the two studied groups. Conclusion: Abnormal RNT seems to be a valuable ultrasound marker for the early diagnosis of facial clefting. This novel reslicing technique has proven to be easy, fast and accurate, which suggest that this technology could be included in daily practice and integrated with other applications such as multiplanar mode and volume NT. Prospective studies are needed to confirm these promising results and to demonstrate if these diagnostic armamentarium tools will lead to a diagnostic enhancement of cleft lip and palate in early pregnancy. Copyright © 2013 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

The 1997 discovery of free fetal DNA in maternal plasma launched clinical researchers' efforts to establish a reliable method for non-invasive prenatal testing for fetal genetic conditions. Various methods, including, but not limited to, massively parallel sequencing (MPS) and selective analysis of cell-free fetal DNA in maternal plasma, have recently been developed as highly sensitive and specific noninvasive screening tools for common fetal chromosome aneuploidies. Incorporating these new noninvasive technologies into clinical practice will impact the current prenatal screening paradigm for fetal aneuploidy, in which genetic counseling plays an integral role. The National Society of Genetic Counselors (NSGC) currently supports Noninvasive Prenatal Testing/Noninvasive Prenatal Diagnosis (NIPT/NIPD) as an option for patients whose pregnancies are considered to be at an increased risk for certain chromosome abnormalities. NSGC urges that NIPT/NIPD only be offered in the context of informed consent, education, and counseling by a qualified provider, such as a certified genetic counselor. Patients whose NIPT/NIPD results are abnormal, or who have other factors suggestive of a chromosome abnormality, should receive genetic counseling and be given the option of standard confirmatory diagnostic testing. [ABSTRACT FROM AUTHOR]

Trisomy 13 or Patau syndrome (PS) is a chromosomal disorder characterized by a well known presentation of multiple congenital anomalies. Our objective was to determine the clinical features and prognosis observed in a sample of patients with PS. The series was composed of patients with diagnosis of PS consecutively evaluated by a Clinical Genetics Service from a reference hospital of southern Brazil, in the period between 1975 and 2012. Statistical analysis was performed using PEPI program (version 4.0), with two-tailed Fisher's exact test for comparison of frequencies ( P < 0.05). The sample consisted of 30 patients, 60% male, median age at first evaluation of 9 days. Full trisomy of chromosome 13 was the main cytogenetic alteration (73%). The major clinical findings included: cryptorchidism (78%), abnormal auricles (77%), congenital heart defects (76%), polydactyly (63%), microphthalmia (60%) and micrognathia (50%). Four patients (13%) simultaneously had micro/anophthalmia, oral clefts and polydactyly. Some findings were only observed in our sample and included, among others, preauricular tags (10%), duplication of the hallux (3%) and spots following the lines of Blaschko (3%). Mosaicism (20% of cases) had a statistically significant association only with absence of cryptorchidism. The median of survival was 26 days. Patients with and without mosaicism had similar median of survival. Our findings, in agreement with the literature, show that the anomalies in patients with PS can be quite variable, sometimes even atypical. There is no pathognomonic finding, which may make the early identification of these patients challenging. © 2013 Wiley Periodicals, Inc. [ABSTRACT FROM AUTHOR]

Objective: Surgery for heart defects in children with trisomy 13 or 18 is controversial. We analyzed our 20-year experience., Methods: Since 2002, we performed 21 operations in 19 children with trisomy 13 (n = 8) or trisomy 18 (n = 11). Age at operation was 4 days to 12 years (median, 154 days). Principal diagnosis was ventricular septal defect in 10 patients, tetralogy of Fallot in 7 patients, arch hypoplasia in 1 patient, and patent ductus arteriosus in 1 patient., Results: The initial operation was ventricular septal defect closure in 9 patients, tetralogy of Fallot repair in 7 patients, pulmonary artery banding in 1 patient, patent ductus arteriosus ligation in 1 patient, and aortic arch/coarctation repair in 1 patient. There were no operative or hospital deaths. Median postoperative intensive care and hospital stays were 189 hours (interquartile range, 70-548) and 14 days (interquartile range, 8.0-37.0), respectively, compared with median hospital stays in our center for ventricular septal defect repair of 4.0 days and tetralogy of Fallot repair of 5.0 days. On median follow-up of 17.4 months (interquartile range, 6.0-68), 1 patient was lost to follow-up after 5 months. Two patients had reoperation without mortality. There have been 5 late deaths (4 with trisomy 18, 1 with trisomy 13) predominately due to respiratory failure from 4 months to 9.4 years postoperatively. Five-year survival was 66.6% compared with 24% in a group of unoperated patients with trisomy 13 or 18., Conclusions: Cardiac operation with an emphasis on complete repair can be performed safely in carefully selected children with trisomy 13 or trisomy 18. Hospital resource use measured by postoperative intensive care and hospital stays is considerably greater compared with nontrisomy 13 and 18., (© 2022 The Author(s).)

Human metapneumovirus (hMPV) is a common cause of upper and lower respiratory tract infections in children. A few case reports have described hMPV encephalitis or encephalopathy. Neuroimaging data on patients with hMPV encephalitis are scarce. We report a patient with trisomy 13 who developed severe hMPV pneumonia, multifocal cerebral and cerebellar hemorrhagic infarctions and extensive cerebral white matter demyelination. Although adult respiratory distress syndrome and disseminated intravascular coagulation contributed to the devastating central nervous system (CNS) lesions, endothelial dysfunction of the CNS caused by hMPV infection probably also played a pathophysiological role in this case.

Background Among the many malformations associated with trisomy 13, one of the less recognized is dinosaur tail appendix. Case report: We illustrate a dinosaur-tail appendix from an autopsy in a newborn female with trisomy 13. This malformation has a frequency between 0.014% and 3.7% in general population. Conclusion: Trisomy 13 is a relatively well-known chromosomal disorder in which dinosaur tail appendix can be found. This entity should be considered element of a complete morphological diagnosis.

Objective To assess the performance of chromosome-selective sequencing of maternal plasma cell-free DNA ( cfDNA) in non-invasive prenatal testing for trisomy 13. Methods Two-phase case-control study on a single plasma sample per case. The first phase was used to optimize the trisomy 13 algorithm, which was then applied to a second dataset to determine the risk score for trisomy 13 by laboratory personnel who were blinded to the fetal karyotype. Results In the first phase, trisomy 13 risk scores were given for 11 cases of trisomy 13 and 145 euploid cases at 11-13 weeks' gestation. The test identified seven (63.6%) cases of trisomy 13 with no false positives. The trisomy 13 algorithm was subsequently modified and the trisomy 13 risk score was > 99% in all 11 cases of trisomy 13 and < 0.01% in all 145 euploid cases. In the second phase, the new algorithm was used to generate trisomy 13 risk scores for 10 cases of trisomy 13 and 1939 euploid cases. The trisomy 13 risk scores were > 99% in eight (80.0% (95% confidence interval ( CI), 49.0-94.3%)) cases of trisomy 13. In the 1939 euploid cases the risk score for trisomy 13 was < 0.01% in 1937 (99.9%), 0.79% in one, and > 99% in one. Therefore, at the predefined risk cut-off of 1% for classifying a sample as high or low risk, the false-positive rate ( FPR) was 0.05% (95% CI, 0.0-0.3%). Conclusions Chromosome-selective sequencing of cfDNA can detect the majority of cases of trisomy 13 at an FPR of less than 0.1%. [ABSTRACT FROM AUTHOR]

The purpose of this study was to assess communication abilities among a sample of 10 individuals with Trisomy 18 and Trisomy 13. These 10 individuals were diagnosed with Trisomy 18 ( n = 8) or Trisomy 13 ( n = 2) and had a mean age of 15.96 years. The sample consisted of one male and nine females. Caregivers completed a case history and reported on words and gestures understood and/or produced. Participants were also videotaped during communication temptation tasks. Auditory comprehension was reported to be higher than expressive language. No participant produced intelligible words or word approximations, yet most produced hand gestures. The process and results of these 10 cases point to a potentially promising approach for assessing communication abilities in individuals with Trisomy 18 and Trisomy 13. [ABSTRACT FROM AUTHOR]

Intensive treatment for newborns with trisomy 13 is controversial because of their lethal prognosis. We report the better life prognosis of patients with trisomy 13 who received intensive treatment. At our hospital, we provided an intensive management to such patients including resuscitation and surgical procedures as required. Herein, we present the results of a retrospective study (1989-2010) of 16 trisomy 13 cases who received an intensive treatment. None was diagnosed to have trisomy 13 before birth; 9 were delivered by C-section and oxygen was administered to all patients during postpartum resuscitation. Mechanical ventilation was used in 9 patients after tracheal intubation and tracheotomy was performed in 2 patients when withdrawing of extubation was difficult. Regarding prognosis, 9 patients died, 3 were referred to another hospital, and 4 were discharged from the hospital. Four and 7 patients died within 7 and 30 days after birth, respectively. Nine patients survived for >1 month, 7 for >180 days, and 5 for >3 years. Median survival for 16 patients was 733 days. The patients who received intensive treatments survived longer compared to the previous data. This study provides useful information concerning genetic counseling, especially from an ethical point of view, before providing intensive management to newborns with trisomy 13. [ABSTRACT FROM AUTHOR]

This study describes the cytological and epidemiological findings in 985 trisomy 13 and 2512 trisomy 18 compared with 10,255 trisomy 21 diagnoses between 2004 and 2009 included in the National Down Syndrome Cytogenetic Register of England and Wales. The frequency of occurrence, proportions diagnosed prenatally, sex ratios, mean maternal age, and proportions of mothers with recurrences were analyzed. Ninety-seven, 98%, and 92% were free karyotypes for trisomy 21, 18, and 13, respectively; 3% of 21, 1% of 18, and 8% of trisomy 13 were translocations; and under 1% of trisomies 21 and 18 were double or triple aneuploids. Overall 1% of each trisomy had mosaicism, but 48% of the trisomy 21 double aneuploids, and 10% of trisomy 18 multiple aneuploids had mosaicism. The proportion of livebirths was 40% of trisomy 21, 11% of 18, and 13% of 13, respectively. Free trisomies 21 and 13 had an excess of males, and 18 had an excess of females, as did mosaic free trisomies 21 and 18. Mean maternal ages were 35.9 years in trisomy 21, 36.4 years in 18, and 34.6 years in 13. During the 6 years of data collection 1% of the mothers had recurrences, most recurrent trisomy 21 or 18 were identical translocations, but hetero-trisomic recurrences included 21 and 18, and 21 and 13. There are significant differences between the trisomic karyotypes and attributes, possibly related to their variable origins. Notable are the relative excess of trisomy 13 translocations, mosaicism in cases with multiple aneuploidy, and the types of homo- and hetero-recurrences. © 2012 Wiley Periodicals, Inc. [ABSTRACT FROM AUTHOR]

Coexistence of XX/XY sex mosaicism and autosomal trisomy in prenatal diagnosis is particularly rare. Herein, we report the first, to our knowledge, case of a fetus with cyclopia, ambiguous genitalia and a 47,XX,+13,inv9[47]/47,XY,+13[13] karyotype detected at 13 weeks of gestation after chorionic villus sampling. Molecular analysis after prenatal diagnosis suggests that this is a case of sex mosaicism coexisting with trisomy 13, rather than chimera. Birth Defects Research (Part A), 2012. © 2012 Wiley Periodicals, Inc. [ABSTRACT FROM AUTHOR]

Trisomy 13 and 18 are associated with congenital heart disease. Cardiac palliation has been reported in the literature, but is not usually done in this population. Thus, a multi-disciplinary team may experience controversy in formulating a care plan that includes cardiac intervention. Our objective was to determine differences in recommendations for cardiac intervention in this population between physicians specializing in pediatric cardiac critical care, neonatology, and genetics. A web-based survey was performed between April 2007 and August 2008. This survey evaluated surgical and transcatheter cardiac palliations that had been performed for individuals with trisomy 13 or 18 at the respondent's institution, the respondent's recommendations for cardiac intervention in hypothetical symptomatic patients with trisomy 13 or trisomy 18 and the influence of parental preference on these recommendations. Eight hundred fifty-nine responses were obtained from a primarily academic practice setting (59%). Cardiologists were most likely to recommend intervention; low risk interventions were recommended by 32% of cardiologists, 7% of neonatologists and 20% of geneticists. Parental request to intervene resulted in a 3 fold increased in the likelihood of all specialist recommending intervention. Counseling of families frequently occurred by multiple sub specialists (50%) and there was frequently (71%) a difference in opinion. Individuals with trisomy 13 or 18 are receiving cardiac intervention at many institutions. Cardiologists were more likely than geneticists or neonatologists to recommend intervention on all heart lesions other than single ventricle palliation which no specialists recommended. Parental wishes that 'everything be done' significantly influenced all specialists' recommendations. [ABSTRACT FROM AUTHOR]

Objectives In Denmark a new national guideline for prenatal screening and diagnosis was issued in 2004 according to which all pregnant women should be offered a first-trimester combined risk assessment for trisomy 21 (T21). The aim of this study was to investigate whether the new screening strategy for T21 has changed the gestational age at which trisomy 18 (T18) and trisomy 13 (T13) are diagnosed prenatally, and the number of infants born with T18 or T13. Methods We collected from the Danish Cytogenetic Central Register information on all prenatal and postnatal chromosome analyses for T18 or T13, registered from 1997 to 2007. Information on first-trimester screening results was collected from each department of obstetrics and gynecology performing the nuchal translucency scans. The cut-off used for referral to invasive diagnostic testing for T21 and for T18/T13 was 1 : 300 and 1 : 150 at screening, respectively. Results In total, there were 435 cases with T18 and 168 cases with T13 between 1997 and 2007 in Denmark. The estimated incidence of T18 and T13 at the time of delivery was calculated as 2.5 and 1.6 per 10 000 deliveries, respectively. The number (proportion) of cases diagnosed before week 18 increased significantly, from 63 (59.4%) in 1997 and 1998 to 90 (80.4%) in 2006 and 2007 ( P < 0.001). In addition, the number of T18 and T13 cases diagnosed prenatally after week 22 or postnatally decreased significantly, from 34 (32.1%) in 1997 and 1998 to seven (6.3%) in 2006 and 2007 ( P < 0.0001). For women participating in first-trimester risk assessment in 2006 and 2007, the detection rate of T18 and T13 was 78.8% (95% CI, 71.0-86.7%). Conclusion The number of T18 and T13 fetuses diagnosed before week 18 increased significantly after the introduction of a combined first-trimester screening strategy for T21 in Denmark. In addition, the total number of fetuses diagnosed late in pregnancy and infants born with T18 or T13 decreased significantly. The national detection rate for T18 and T13 in the first trimester is comparable with detection rates found in modeled datasets and other prospective studies. Copyright © 2011 ISUOG. Published by John Wiley & Sons, Ltd. [ABSTRACT FROM AUTHOR]

Objective: To describe pregnancy outcomes of fetuses affected by trisomies 13 and 18 following prenatal diagnosis and a decision to continue the pregnancy. Material and Methods: A single-center, retrospective study of 34 cases with a diagnosis or strong suspicion of trisomy 13 or 18. Results: Fourteen of 34 (41%) families chose to continue the pregnancy after a diagnosis of trisomy 13 or 18 was made. Nine fetuses subsequently died in utero (IUD). No prenatal signs were predictive of IUD. There were no intrapartum deaths. All 4 live-born babies were delivered vaginally; 2 died immediately after birth in the labor ward whilst 2 were transferred to the neonatal unit, dying at 10 and 11 days, respectively. Discussion: Couples should be counseled that the precise outcome of trisomy 13 or 18 is unpredictable, and they should receive multidisciplinary support. Copyright © 2011 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Institutional Ethics Committees are commonly available in hospitals with newborn intensive care units, and may serve as a valuable resource for staff and parents dealing with difficult ethical decisions. Many clinicians may be unaware of when the committee might be helpful, or how it functions. After a brief historical introduction, two cases are presented as illustrations of pediatric ethics committee function. The first involves consideration of cardiac surgery for an infant with ventricular septal defect and Trisomy 13. The second involves disagreement between staff and parents regarding possible provision of cardio-pulmonary resuscitation in a terminally ill newborn. Principles and considerations often brought to bear in committee deliberations are reviewed for each case. Neonatologists, staff and families should be aware of this potentially valuable resource, and are encouraged to use it for situations of moral distress, conflict resolution or ethical uncertainty. [ABSTRACT FROM AUTHOR]

Objective. Changes in prenatal diagnosis and maternal age are likely to have an impact on live born prevalence of trisomies 13 and 18. We investigated trends in diagnosis, prevalence, and survival in these conditions. Methods. A population-based study of one UK health region in 1985-2007 using a well-established congenital abnormality register. Individual records were reviewed and live birth and maternal age data obtained. Results. Pregnancies with trisomies 13 and 18 increased from 0.08 to 0.23 per 1000 registered births and 0.20 to 0.65 per 1000 registered births, respectively. Prenatal diagnosis increased and was associated with high termination rates. Live born prevalence with trisomy 13 decreased from 0.05 to 0.03 per 1000 live births and with trisomy 18 from 0.16 to 0.10 per 1000 live births. Postnatal survival remains poor: one baby (3%) with trisomy 13 and four (6%) with trisomy 18 survived the first year. The percentage of mothers over 35 years increased from 6 to 15%. Conclusions. Changes in prenatal screening and maternal age have had dramatic effects on the live born prevalence of trisomies 13 and 18. Infant survival remains largely unchanged with the majority dying in the neonatal period. [ABSTRACT FROM AUTHOR]

Abstract: Hydatidiform moles are gestational diseases with abnormal development of the villous trophoblast and characterized by an excess of paternal to maternal genetic material. Complete moles are usually diploid and androgenetic, and are thought to develop after the fertilization of an “empty ovum” by either a haploid spermatozoon or two spermatozoa. We report a case of a complete mole in which fluorescence in situ hybridization (FISH) incidentally disclosed trisomy 13. Microsatellite genotyping showed a single allele at each of the markers tested on the chorionic villi, and comparison with parental peripheral blood specimens revealed that the markers were all of paternal origin. These results confirmed the paternal origin of all three copies of chromosome 13, and the isodisomy for each chromosome was consistent with duplication of a monospermic fertilization event and subsequent non-disjunction. To the best of our knowledge, this is the only case of an androgenetic complete mole with trisomy 13 described in the scientific literature. We present a review of the literature and hypothesize that the trisomy 13 in our case likely resulted from non-disjunction of chromosome 13. [ABSTRACT FROM AUTHOR]

Introduction: Patau syndrome (trisomy 13) is one of the most common chromosomal anomalies clinically characterized by the presence of numerous malformations with a limited survival rate for most cases. Babies are usually identified at birth and the diagnosis is confirmed with genetic testing. Materials and methods: In this review we outline the clinical and cytogenetic aspects of trisomy 13 and associated phenotypes for 5 cases analyzed in the last 3 years, referred to our Clinical Genetics Department. For each child cytogenetic analysis was performed to determine the genetic variant; also, the patients were investigated for other associated malformations (cardiac, cerebral, renal, ocular anomalies). Discussion: All 5 cases presented multiple malformations, including some but not all signs of the classical clinical triad suggestive of Patau syndrome. The cytogenetic investigation confirmed for each case the suspected diagnosis and also indicated the specific genetic variant, this being a valuable information for the genetic counselling of the families. Conclusion: The application of genetic analysis can increase diagnosis and prognosis accuracy and have an impact on clinical management. [ABSTRACT FROM AUTHOR]

Background: The occurrence of a discordant chromosomal abnormality in monozygotic twins is an extremely rare condition. Case: We report the prenatal sonographic findings and cytogenetic studies in a monochorionic twin pregnancy discordant for severe fetal anomalies. Amniocenteses demonstrated heterokaryotypia for trisomy 13 in monozygotic twins. The pregnancy was managed conservatively, resulting in the delivery of discordant twins at 32 weeks. The structurally normal twin survived without sequelae, but the abnormal twin died shortly after delivery. Conclusions: This report adds to the literature the second known case of a spontaneously conceived monochorionic twin pregnancy discordant for trisomy 13 and highlights the necessity of sampling both fetuses in cases of monochorionic twins presenting with discordant structural anomalies. Copyright © 2010 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Introduction: Low level of trisomy 13 mosaicism is a rare condition. In the present report, we describe a case of a 19-month-old boy with poor feeding, poor weight gain, mild dysmorphic features, mild muscular hypotonia, and speech delay.Discussion: Cytogenetic analysis on metaphases of lymphocytes revealed an 8% mosaic Robertsonian translocation trisomy 13 in the boy and a balanced Robertsonian translocation, 45,XX,der(13;14)(q10;q10), in his normal mother. Fluorescence in situ hybridization (FISH) on patient lymphocytes disclosed 4% of metaphases with a trisomy 13. The trisomy 13 mosaicism in metaphases could not be identified by interphase FISH. The percentage of three signals (4%) was within the standard deviation in diploid controls. Follow-up of the patient was performed at the age of 7 1/12 years, and in cells from buccal smear of the patient, trisomy 13 was detected in 11% of interphases analyzed that is a higher frequency. Uniparental disomy of chromosomes 13 and 14 were excluded in the boy, and therefore, his phenotypic abnormalities most likely were caused by the low level of trisomy 13 mosaicism.Conclusion: The detailed report of this patient described the infrequent occurrence of a low mosaic Robertsonian translocation trisomy 13. We suggest to study cases of low trisomy mosaicism preferentially using metaphase analyses rather than interphase FISH. Our case is helpful in further defining the phenotype of these patients. [ABSTRACT FROM AUTHOR]

Objective: To determine the relative contribution of nuchal translucency (NT) to the biochemical detection rates of combined screening for trisomies 13 and 18 in two healthcare systems practicing different quality-control systems of nuchal measurement. Methods: De-identified data collected from the Fetal Medicine Foundation in the United Kingdom and laboratory data from NTD laboratories in the United States were compared for detection rate and false-positive rate (FPR) for combined trisomies 13 and 18 screening and were subcategorized by biochemical only and biochemistry combined with NT measurement. Results: US and UK biochemical detection rates were virtually identical: 83% for a FPR of 1.8%. When NT measurement was added, the US rate increased to 88% for a 0.7 FPR, but in the UK the rate increased to 94% for a FPR of 0.3%. The mean NT was 1.69 mm in the US and 2.82 mm in the UK. Conclusions: NT measurement as practiced in the UK system with tight quality control significantly increased the detection rate and significantly reduced the FPR of combined screening for trisomies 13 and 18, when compared to the US with apparently less rigid quality control. Copyright © 2010 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Objective: To evaluate the sonographic characteristics of fetuses with trisomy 18 and trisomy 13. Materials and Methods: From March 2002 to December 2006, we reviewed the database and medical records of 25 cases with trisomy 18 and trisomy 13. The subjects were recruited from pregnant women undergoing prenatal sonographic examinations at 13-28 weeks of gestation and subsequently proven trisomy 18 or 13. The results of ultrasound findings were reviewed in these cases with chromosomes confirmed as trisomy 18 and/or 13. Results: All cases had at least one abnormal sonographic finding. The common sonographic findings included choroid plexus cysts, abnormal head shape, cardiac anomalies, holoprosencephaly with associated facial anomalies, abnormal feet and/or hands, especially polydactyly, clenched hand, omphalocele. Non-structural abnormal findings such as polyhydroamnios or fetal growth restriction were seen in less than one third of the fetuses. Discussion: Nearly all fetuses with trisomy 18 or 13 had characteristic sonographic patterns of abnormalities demonstrated at midpregnancy. Detailed ultrasound at midpregnancy could effectively screen fetuses with trisomy 18 or 13 for further genetic testing. [ABSTRACT FROM AUTHOR]

Aplasia cutis congenita (ACC) is an uncommon condition in which localized or widespread areas of skin are absent or scarred at birth. There is no single underlying cause of ACC, as it simply represents a physical finding that reflects a disruption of intrauterine skin development. Here we report three cases of ACC of the scalp with three different etiologies: congenital rubella syndrome, trisomy 13 and fetal valproate syndrome. The aim of the present report is to increase awareness of these skin defects and emphasize the importance of underlying etiologies. [ABSTRACT FROM AUTHOR]

Abstract: Linear and whorled nevoid hypermelanosis (LWNH) is a reticulate pigmentary disorder with a sporadic occurrence, generally representing a genetic mosaicism. In this case, we describe a two-month-old girl with trisomy 13, who presented with various systemic anomalies such as congenital ventricular septal defect, microcephaly, auricular deformities, flatness of nasal root, overlapping fingers, umbilical hernia, and LWNH. G-banding chromosomal analyses were performed on cultured peripheral blood lymphocytes of the patient and the parents. The karyotype of the patient was 47, XX,+13[100], with no mosaicism. The karyotypes of the parents were normal. To our knowledge, we present the first patient with LWNH in whom full trisomy 13 was confirmed postnatally in cultured peripheral blood lymphocytes. [ABSTRACT FROM AUTHOR]

Splenopancreatic field abnormalities were carefully examined macroscopically and microscopically in 21 trisomy 13 (TR13) subjects, and the results were compared with those of non-TR13 control cases. Of the 21 TR13 subjects, 12 had intrapancreatic splenic tissue (IPST) and 17 had fusion of the pancreatic tail and splenic hilus and/or accessory spleen (FPS/FPAS). All 21 had IPST and/or FPS/FPAS. Five of 1060 controls (non-TR13) had IPST, while two had FPS/FPAS. On histology the pancreata of TR13 subjects had intralobular ducts, with goblet cells (ILDGC) and microcysts (MC) in 17 and 18 subjects, respectively. All 21 TR13 subjects had ILDGC and/or MC. Two of 360 age-matched controls (stillbirths and neonates) had ILDGC and nine had MC. IPST, FPS/FPAS, ILDGC, and MC were considered to be highly specific for TR13, and could therefore be useful in differentiating TR13 from other malformation diseases. [ABSTRACT FROM AUTHOR]

Objective: To evaluate the sonographic characteristics of fetuses with trisomy 18 and trisomy 13. Materials and Methods: From March 2002 to December 2006, we reviewed the database and medical records of 25 cases with trisomy 18 and trisomy 13. The subjects were recruited from pregnant women undergoing prenatal sonographic examinations at 13-28 weeks of gestation and subsequently proven trisomy 18 or 13. The results of ultrasound findings were reviewed in these cases with chromosomes confirmed as trisomy 18 and/or 13. Results: All cases had at least one abnormal sonographic finding. The common sonographic findings included choroid plexus cysts, abnormal head shape, cardiac anomalies, holoprosencephaly with associated facial anomalies, abnormal feet and/or hands, especially polydactyly, clenched hand, omphalocele. Non-structural abnormal findings such as polyhydroamnios or fetal growth restriction were seen in less than one third of the fetuses. Discussion: Nearly all fetuses with trisomy 18 or 13 had characteristic sonographic patterns of abnormalities demonstrated at midpregnancy. Detailed ultrasound at midpregnancy could effectively screen fetuses with trisomy 18 or 13 for further genetic testing. [ABSTRACT FROM AUTHOR]

Trisomy 13 is a very rare and lethal autosomal chromosomal malformation syndrome. Its incidence is 1/12,000 births. In this paper, we present a new trisomy 13 case associated with unusual and undescribed findings. This patient was the first child of unrelated parents with advanced maternal and paternal age, at 36 and 38 years, respectively. Unfortunately, the parents did not accept the prenatal diagnosis. The baby was born after 34 weeks of gestation by cesarian section. His birth weight was 1,865 g and he demonstrated typical craniofacial abnormalities for trisomy 13 such as severe microphthalmia, microcephaly and scalp defects, and peripheral chromosome analysis revealed trisomy 13. He died of congenital heart disease and sepsis on the 12th hospital day. A complete autopsy revealed a scalp and a skull defect at the vertex, aplasia of the 5th finger nails, a complex heart disease including pulmonary trunk atresia, patent foramen ovale, membranous ventricular septal defect (VSD), main aorticopulmonary collateral artery (MAPCA) and aortic dextroposition, arrhinencephaly, partial agenesis of the corpus callosum, and neuronal heterotopias in the cerebellum. He also had bilateral cystic renal dysplasia, Meckel's diverticulum, right inguinal hernia, ectopic splenic tissue in the pancreas, and ectopic thymus tissue adjacent to the thyroid. To our knowledge, this is a unique trisomy 13 case with numerous common and uncommon features including a bone defect in the skull, partial agenesis of the corpus callosum, aplasia of the 5th finger nails, and a complex heart disease including pulmonary atresia, patent foramen ovale, membranous VSD, MAPCA and aortic dextroposition, which have not been published previously in the relevant literature all together. [ABSTRACT FROM AUTHOR]

Abstract: We report a 12-year-old patient with Patau syndrome, in whom two cell lines were present from birth, one with total trisomy 13 due to isochromosome (13q), and one with partial trisomy 13. A cytogenetic re-evaluation at 9 years of age brought to light in skin fibroblasts a third cell line, partially monosomic for chromosome 13. The derivatives (13) present in the three cell lines were characterized through fluorescence in situ hybridization (FISH) experiments with suitable probes; the results suggested a sequence of rearrangements which beginning from an isochromosome (13q) could have led to the other two derivatives. We report the clinical data at birth and at the age of 12; at this age pigmentary lesions with phylloid pattern were noted. Cytogenetic findings of the chromosomal analyses on different tissues, including skin fibroblasts from differently pigmented areas, are also reported. [Copyright &y& Elsevier]

Pseudo-trisomy 13 is defined in chromosomally normal patients withholoprosencephaly and associating features suggestive of trisomy 13. An autosomal recessive pattern of inheritance for this situation is most likely, but a gene for this condition has not yet been mapped. A fetus is presented with phenotypic features reminiscent of trisomy 13 but a normal karyotype, 46, XY. The pregnancy was terminated due to severe fetal malformations. In autopsy, the fetus had semilobar holoprosencephaly, hydrocephaly and dysmorphic features such as hypotelorism, cleft lip, a flat nose with a single nostril, low-set ears, postaxial polydactyly in all extremities, left unilateral pes equinovarus and pulmonary segmentation defect on the right. The parents were 2nd cousins once removed. Holoprosencephaly and polydactyly with or without other findings in chromosomally normal patients should raise the suspicion of pseudo-trisomy 13 syndrome, particularly when parental consanguinity is present. [ABSTRACT FROM AUTHOR]

Dandy–Walker syndrome (DWS) is a brain malformation of unknown etiology, but several reports have been published indicating that there is a causal relationship to various types of chromosomal abnormalities and malformation syndromes. In the present article, we present a bibliographical survey of several previously issued reports on chromosomal abnormalities associated with DWS, including our case of DWS found in trisomy 18. There are various types of chromosomal abnormalities associated with DWS; most of them are reported in chromosome 3, 9, 13 and 18. We also summarize some other chromosomal abnormalities and various congenital malformation syndromes. [ABSTRACT FROM AUTHOR]

The article discusses the study which aims to investigate the frontomaxillary facial (FMF) angle in fetuses with trisomy 13 because of abnormalities in the angle, the palate, and forehead. Accordingly, FMF angel is the angle among the upper surface of the maxilla and the frontal bone in a midsagittal view of the fetal face. In the study, the FMF angle was measured and compared to the angle in 500 chromosomally normal fetuses.