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Terminal 7q deletion is a rare chromosomal anomaly resulting from partial deletion of the long arm of chromosome 7. 7q terminal deletion syndrome results in variable clinical phenotypes, such as microcephaly, holoprosencephaly, craniofacial abnormalities, sacral hypoplasia, etc. We report a case of prenatal diagnosis of this syndrome with multiple abnormalities including holoprosencephaly and other craniofacial anomalies seen on ultrasound seen at NT scan. Pregnancy was terminated and chromosomal microarray showed ∼5.5 MB deletion in chromosome 7 spanning the 7q36.2-36.3 region. In addition, a literature review was done to enlist the various prenatal ultrasound features of this rare syndrome.

Objective: To evaluate the short- and long-term outcomes of cardiac repair versus nonoperative management in patients with trisomy 13 and trisomy 18 with congenital heart disease. Methods: An institutional review board-approved, retrospective review was undertaken to identify all patients admitted with trisomy 13/18 and congenital heart disease. Patients were divided into 2 cohorts (operated vs nonoperated) and compared. Results: Between 1985 and 2023, 62 patients (34 operated and 28 nonoperated) with trisomy 13 (n = 9) and trisomy 18 (n = 53) were identified. The operated cohort was 74% girls, underwent mainly The Society of Thoracic Surgeons-European Association for Cardio-Thoracic Surgery mortality category 1 procedures (n = 24 [71%]) at a median age of 2.5 months (interquartile range [IQR], 1.3-4.5 months). This compares with the nonoperative cohort where 64% (n = 18) would have undergone The Society of Thoracic Surgeons-European Association for Cardio-Thoracic Surgery mortality category 1 procedures if surgery would have been elected. The most common diagnosis was ventricular septal defect. Postoperative median intensive care unit stay was 6.5 days (IQR, 3.7-15 days) with a total hospital length of stay of 15 days (IQR, 11-49 days). Thirty-day postoperative survival was 94%. There were 5 in-hospital deaths in the operated and 7 in the nonoperated cohort. Median follow-up was 15.4 months (IQR, 4.3-48.7 months) for the operated and 11.2 months (IQR, 1.2-48.3 months) for the nonoperated cohorts. One-year survival was 79% operated versus 51.5% nonoperated (P

A 31‐year‐old primiparous woman underwent non‐invasive prenatal testing. The result was trisomy 13 (T13) positive. The chromosome 13 t‐statistics (Z‐score) was significantly high. The result of amniocentesis was normal karyotype (46,XX). Detailed ultrasound showed no fetal structural abnormalities. We suspected T13 confined placental mosaicism (CPM) and observed the course naturally. From the late second trimester, severe fetal growth restriction manifested followed by proteinuria and hypertension, diagnosing her with preeclampsia (PE). At 35 + 5 weeks, emergent cesarean section was required, yielding a 1480 g female infant. We sampled five locations of chorionic villi in the placenta. T13 cells dominated cells with normal karyotypes in all parts and the rate of trisomic cells ranged from 57% to 96%, which were generally high rate. None developed PE in reported T13 CPM cases and this is the first case of PE. The dominancy of T13 cells can be associated with PE development. [ABSTRACT FROM AUTHOR]

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It remains unclear whether recent changes in the prognosis and management of patients with trisomy 13 impact patient survival. We investigated changes in survival of patients with trisomy 13 in Japan. Data from the Vital Statistics Database in Japan was retrieved to examine the association of sex, surgical history, and years of birth and death with changes in survival patterns in 1164 patients with trisomy 13 between 1995 and 2021. The rates of deaths due to trisomy 13 increased from 9.8% to 23.1% in those over 1 year of age and from 7.3% to 19.2% in those within 24 h of birth between 1995 and 2021. The median survival time was longer in 2009–2021 than in 1996–2008 (40 vs. 84 days, p < 0.001). The median survival time and the rate of patients with surgical history increased from 91 days and 16.0% in 1996–2008 to 179 days and 28.0% in 2009–2021, respectively. Median survival time among patients with trisomy 13 has increased over the last 26 years, with almost 1 in 3 patients currently surviving for more than 1 year. The increased surgical intervention rate might have contributed to this improvement. [ABSTRACT FROM AUTHOR]

Background: Children born with Trisomy 13 or 18 (T13/18) often have multiple congenital anomalies, many of which drastically shorten their lifespan. Among these defects are cleft lip and palate, the repair of which presents an ethical dilemma to the surgeon given the underlying comorbidities associated with T13/18. The authors present an ethical discussion and institutional experience in navigating this dilemma. Methods: The authors analyzed existing literature on T13 and T18 surgery and mortality. A retrospective study over ten years was also conducted to identify pediatric patients who underwent surgical correction of cleft lip and/or palate secondary to a confirmed diagnosis of T13/18. The authors identified two patients and examined their treatment course. Results: The authors' review of literature coupled with their institution's experience builds on the published successes of correcting cleft lip and palate in the setting of T13/18. It was found that both patients identified in the case series underwent successful correction with no surgical complications. Conclusion: A careful balance must be struck between improved quality of life, benefits of treatment, and risks of surgery in children with T13/T18. Careful consideration should be given to the medical status of these complex patients. If the remaining medical comorbidities are well managed and under control, there is an ethical precedent for performing cleft lip and palate surgeries on these children. A diagnosis of T13/T18 alone is not enough to disqualify patients from cleft lip/palate surgery. [ABSTRACT FROM AUTHOR]

Recommendations for surgical repair of a congenital heart defect in children with trisomy 13 or trisomy 18 remain controversial, are subject to biases, and are largely unsupported with limited empirical data. This has created significant distrust and uncertainty among parents and could potentially lead to suboptimal care for patients. A working group, representing several clinical specialties involved with the care of these children, developed recommendations to assist in the decision-making process for congenital heart defect care in this population. The goal of these recommendations is to provide families and their health care teams with a framework for clinical decision making based on the literature and expert opinions. This project was performed under the auspices of the AATS Congenital Heart Surgery Evidence-Based Medicine Taskforce. A Patient/Population, Intervention, Comparison/Control, Outcome process was used to generate preliminary statements and recommendations to address various aspects related to cardiac surgery in children with trisomy 13 or trisomy 18. Delphi methodology was then used iteratively to generate consensus among the group using a structured communication process. Nine recommendations were developed from a set of initial statements that arose from the Patient/Population, Intervention, Comparison/Control, Outcome process methodology following the groups' review of more than 500 articles. These recommendations were adjudicated by this group of experts using a modified Delphi process in a reproducible fashion and make up the current publication. The Class (strength) of recommendations was usually Class IIa (moderate benefit), and the overall level (quality) of evidence was level C-limited data. This is the first set of recommendations collated by an expert multidisciplinary group to address specific issues around indications for surgical intervention in children with trisomy 13 or trisomy 18 with congenital heart defect. Based on our analysis of recent data, we recommend that decisions should not be based solely on the presence of trisomy but, instead, should be made on a case-by-case basis, considering both the severity of the baby's heart disease as well as the presence of other anomalies. These recommendations offer a framework to assist parents and clinicians in surgical decision making for children who have trisomy 13 or trisomy 18 with congenital heart defect. [ABSTRACT FROM AUTHOR]

Background: Non-invasive prenatal tests (NIPT) are used to screen for trisomy 21, 18, and 13. This study investigated NIPT performance and the clinical significance of its results. Methods: Pregnant women (n = 282,911) participating in a free NIPT (April 2018–December 2021) were screened for common trisomies, and the results were retrospectively analyzed. NIPT performance was evaluated by its positive predictive value (PPV), sensitivity, and specificity. Results were analyzed using number, percentage, and chi-squared/t-test analyses. Results: After NIPT screening, patients with common trisomies (n = 746) included 457 with T21, 160 with T18, and 129 with T13. Seven false negative cases were identified. High PPV (86.81 %, 56.81 %, 18.18 %), sensitivity (99.25 %, 98.33 %, 100.00 %), and specificity (99.98 %, 99.98 %, 99.97 %) values were detected for trisomy 21, 18, and 13, respectively. The PPVs of common trisomies were significantly different between pregnant women older than 35 (85.53 %, 136/159) and those aged 35 or younger (58.90 %, 311/528) (χ2 = 125.02, P = 2.20e-16). As the NIPT uptake increased from 2018 to 2021, live-born birth defect incidence decreased. Conclusion: NIPT performed well in screening for T21, T18, and T13. Our discoveries offer an important and useful guideline in laboratory and clinical genetic counseling.

Fetal pleural effusion has been reported to be associated with chromosomal abnormalities, genetic syndromes, obstructive uropathy, lymphatic vessel abnormalities such as Noonan syndrome, RASopathy and congenital lymphatic anomalies, thoracic cavity defects, Rh or ABO incompatibility, non-immune hydrops fetalis, infections, congenital cardiac anomalies, metabolic diseases and hematologic diseases such as α-thalassemia. This review provides a comprehensive view of specific and non-specific chromosome aberrations associated with fetal pleural effusion which is useful for genetic counseling and fetal therapy at prenatal diagnosis of fetal pleural effusion.

Introduction Patients with trisomy 13 have multiple malformations, including urological anomalies, and severe cognitive and psychomotor disabilities. We conducted a ureteroureterostomy for a mid‐ureteral stricture due to a retroiliac ureter in a patient with trisomy 13. Case presentation A 6‐month‐old girl with trisomy 13 developed a urinary tract infection. Computed tomography for assessing recurrent urinary tract infection revealed a left mid‐ureteral stricture due to the retroiliac ureter. At the age of 2, a ureteroureterostomy was performed. Two years after surgery, the urinary tract infection did not recur. Conclusion Ureteroureterostomy is a safe procedure for children with trisomy 13 and multiple comorbidities. Surgical treatment should be considered for patients with trisomy 13 when agreed upon by the family and comorbidities are well‐controlled.

Objective: We present low-level mosaic trisomy 13 at amniocentesis in a pregnancy associated with associated with a favorable fetal outcome and cytogenetic discrepancy in various tissues. Case Report: A 38-year-old, gravida 3, para 0, woman underwent amniocentesis at 19 weeks of gestation because of advanced maternal age. This pregnancy was conceived by in vitro fertilization and embryo transfer. Amniocentesis revealed a karyotype of 47,XX,+13[2]/ 46,XX[20] in co-twin A and a karyotype of 46,XY in co-twin B. In co-twin A, among 22 colonies of cultured amniocytes, two colonies had a karyotype of 47,XX,+13, whereas the rest 20 colonies had the karyotype of 46,XX. Array comparative genomic hybridization (aCGH) analysis on the DNA extracted from cultured amniocytes revealed arr (1-22,X) × 2, Y × 0 and detected no genomic imbalance. Prenatal ultrasound and parental karyotypes were normal. Quantitative fluorescence polymerase chain reaction (QF-PCR) analysis on the DNA extracted from the parental bloods and cultured amniocytes excluded uniparental disomy (UPD) 13. The woman was encouraged to continue the pregnancy. At 37 weeks of gestation, a normal 2410-g female co-twin A and a normal 2360-g male co-twin B were delivered without any phenotypic abnormality. The karyotypes of cord blood, umbilical cord and placenta of co-twin A were 46,XX (40/40 cells), 47,XX,+13 [1]/46,XX[39] and 47,XX,+13[36]/46,XX [4], respectively. QF-PCR analysis on cord blood of co-twin A excluded UPD 13. When follow-up at age 1½ years, the neonate of co-twin A was normal in physical and psychomotor development. Conclusion: Low-level true mosaic trisomy 13 at amniocentesis can be associated with a favorable fetal outcome and cytogenetic discrepancy in various tissues.

Background: Trisomy 13 (T13) and sex chromosome aneuploidies (SCA) are the vital causes of congenital malformations. This study was performed to identify the T13 and SCA with screening tests in the first trimester of pregnancy.Materials and Methods: In this cross-sectional study, first-trimester combined screening was conducted on 2100 pregnant women referred to Narges Genetics Laboratory, Ahvaz, Iran. Evaluating the first trimester screening tests, including nuchal translucency (NT), crown–rump length (CRL) and pregnancy-associated plasma protein-A (PAPP-A), and free beta of human chorionic gonadotropin (fβhCG) was performed. For a definitive diagnosis of T13 and SCA syndrome, fetal karyotype was evaluated.Results: The average NT and CRL in high-risk group for T13 were 5.96 mm and 61.7 mm respectively and in high-risk groups for SCA were 3.7 mm and 75.9 mm, respectively. Significant correlation was observed among NT, CRL and T13, SCA (P0.05).Conclusion: Using special software and karyotype testing, the prenatal screening tests based on the maternal age and gestational age in the first trimester of pregnancy may determine the major risk of fetal chromosomal abnormalities.

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.

Objective: We present rapid confirmation of trisomy 13 of maternal origin by quantitative fluorescent polymerase chain reaction (QF-PCR) following postmortem tissue cell culture failure in a pregnancy with trisomy 13 at amniocentesis and fetal postaxial polydactyly and facial cleft. Case Report: A 34-year-old woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Cytogenetic analysis of cultured amniocytes revealed a karyotype of 47,XX,+13. Prenatal ultrasound revealed postaxial polydactyly. The pregnancy was subsequently terminated, and a malformed fetus was delivered with facial cleft and postaxial polydactyly of the hand and foot. Postmortem cytogenetic analysis of the fetal tissue revealed no growth of the cells due to culture failure, but QF-PCR analysis on the DNA extracted from placenta, umbilical cord and parental bloods confirmed trisomy 13 and maternal origin of the extra chromosome 13. Conclusion: QF-PCR analysis is useful for rapid perinatal confirmation of trisomy 13 and the parental origin of the extra chromosome 13, especially under the circumstance of tissue cell culture failure, and the acquired information is useful for genetic counseling.

Objective: The survival rate of patients with trisomy 13 and trisomy 18 has increased dramatically over the past two decades. We sought to comprehensively describe the otolaryngologic clinical characteristics and procedures required for these patients at our institution. Methods: We performed algorithmic identification of patients with a diagnosis of trisomy 13 and trisomy 18 for whom the otolaryngology service provided inpatient or outpatient care at our institution between the dates of February 1997 and March 2021. Results: Of the 47 patients studied, 18 patients had a diagnosis of trisomy 13, and 29 had a diagnosis of trisomy 18. Complete trisomy was present in 44% (8/18) of trisomy 13 patients and 55% (16/29) of trisomy 18 patients. 81% of patients were living at the time of the study. About 94% (44/47) of patients required consultation with another specialty in addition to Otolaryngology. Overall, the most common diagnoses among this cohort were gastroesophageal reflux disease (47%), dysphagia (40%), otitis media (38%), and obstructive sleep apnea (34%). Nearly three‐quarters (74%) of patients studied required an otolaryngologic procedure. The most common surgical procedure was tonsillectomy and/or adenoidectomy. Patients with trisomy 18 were significantly more likely to have external auditory canal stenosis and obstructive sleep apnea whereas patients with trisomy 13 were more likely to have cleft lip and palate. Conclusions: Patients with a diagnosis of trisomy 13 or 18 often require multidisciplinary management and the range of required care spans the breadth of otolaryngology. Level of Evidence: 4 Laryngoscope, 133:1501–1506, 2023 [ABSTRACT FROM AUTHOR]

Trisomy 13, also known as Patau syndrome, is a rare chromosomal abnormality characterized by multiple congenital anomalies affecting various organ systems, including the central nervous, cardiovascular, and craniofacial structures. In the present case, trisomy 13 was detected on routine prenatal ultrasound at 16 weeks with the principle finding of a foetal horseshoe kidney along with other features. The diagnostic evaluation included a foetal genetic sonogram followed by amniocentesis for chromosomal microarray which confirmed the presence of an extra chromosome 13 in foetal genome. The parents were counselled regarding the poor prognosis associated with this condition. They consented to terminate the pregnancy. The post-abortal autopsy confirmed the presence of a horseshoe kidney in the foetus. This case highlights the importance of con- firming foetal structural normalcy and early prenatal diagnosis of any abnormalities with genetic counselling for detection of prenatal genetic conditions. [ABSTRACT FROM AUTHOR]

Trisomy 13 is a serious genetic anomaly in the fetus that is one of the causes of abortion as a result of the chromosomal aneuploidy. Trisomy 13 affects roughly 1 in 10,000 to 20,000 live births, and more than 95% of pregnancies end in prenatal death. Due to the higher prevalence of preeclampsia and the danger of maternal death associated with early birth, abnormalities in these infants also have an impact on the mother's health. There is a medical emergency condition to save the mother's life in trisomy 13 pregnancy. Termination of pregnancy avoids the adverse effects that will be experienced by babies with severe congenital abnormalities. According to Law No. 36 of 2009 concerning Health, women who eligble for abortions if there are medical reasons to do so. Pregnancies that endanger the fetus' life and health, including those with severe genetic diseases that cannot be treated so that they have a negative impact on the baby and mother's life are medically indicated for medical provocatus abortions. The problems in this paper are 1) What are the ethical problems found in pregnancies with a fetus diagnosed with a genetic disorder due to trisomy 13? 2) What is the procedure for implementing medical abortion provocation that fulfills ethical aspects and complies with applicable regulations. To answer these problems, a research using normative legal research, accompanied by reports of cases of abortion. This normative legal research focuses on ethical and legal aspects of the implementation of provocative medical abortion following statutory regulations. This normative legal research starts with articles and case reports of fetal pregnancies with genetic disorders from the Gatot Soebroto Army Hospital. The results of the study show that consent to termination of pregnancy with medical indications by the patient and approved by the husband/family. Termination of pregnancy in a fetus with a severe genetic disorder Trisomy 13 is a legal abortion if it is carried out according to medical indications and steps regulated in Health Law No. 36 of 2009 and Government Regulation No. 61 of 2014 concerning Reproductive Health. [ABSTRACT FROM AUTHOR]

• Several recent studies have shown that patients with trisomy 13 can undergo life-prolonging surgeries with some success and have an overall good quality of life. • Our study was consistent with this but reinforced that complications and mortality are high, with mortality disproportionately elevated as compared to comorbidity-matched controls. Trisomy 13 is a rare genetic condition with a characteristic set of severe congenital abnormalities. Traditionally, the standard of care was to provide palliative care only. However, there has been a recent shift towards life-prolonging care, including surgery. This study seeks to describe surgical outcomes in patients with trisomy 13 and compare them to comorbidity-matched controls. Using the ACS NSQIP Pediatric 2012–2019 Participant Use Data Files, patients with trisomy 13 were identified and described. A nearest-neighbor 10:1 propensity score match was performed using demographics, comorbidities, and procedural details. This yielded 254 patients with trisomy 13 and 2,422 controls. Risk ratios for morbidity and mortality by trisomy 13 status were determined using modified Poisson regression. The primary outcomes were thirty-day mortality and the occurrence of any morbidity. The median age of patients with trisomy 13 was 16 months (IQR 87 months). 126 were male (49.6%) and 128 were female (50.4%). There were no differences in overall morbidity compared to controls (31.8% vs. 29.7%, RR 1.06, 95%CI 0.87–1.28, p = 0.554), but patients with trisomy 13 had markedly higher mortality (7.9% vs. 1.8%, RR 4.43, 95%CI 2.28–8.61, p <0.001). We conclude that patients with trisomy 13 undergoing surgery have frequent morbidity and an elevated although not prohibitive risk of death. Compared to patients with similar comorbidities, they have similar rates of morbidity but a markedly higher risk of mortality. Parents of children with trisomy 13 require thorough counseling on these risks before deciding on surgery. [ABSTRACT FROM AUTHOR]

Background: Trisomy 13 (T13) and sex chromosome aneuploidies (SCA) are the vital causes of congenital malformations. This study was performed to identify the T13 and SCA with screening tests in the first trimester of pregnancy. Materials and Methods: In this cross-sectional study, first-trimester combined screening was conducted on 2100 pregnant women referred to Narges Genetics Laboratory, Ahvaz, Iran. Evaluating the first trimester screening tests, including nuchal translucency (NT), crown--rump length (CRL) and pregnancy-associated plasma protein-A (PAPP- A), and free beta of human chorionic gonadotropin (fβhCG) was performed. For a definitive diagnosis of T13 and SCA syndrome, fetal karyotype was evaluated. Results: The average NT and CRL in high-risk group for T13 were 5.96 mm and 61.7 mm respectively and in high- risk groups for SCA were 3.7 mm and 75.9 mm, respectively. Significant correlation was observed among NT, CRL and T13, SCA (P<0.05). The average serum fβhCG and PAAP-A levels in high-risk group for T13 were 0.42 and 0.31, respectively. Significant correlation was observed between decrease fβhCG, PAPP-A and T13 levels and increase fβhCG levels and SCA levels (P<0.05). No Significant correlation was observed between PAPP-A levels and SCA levels (P>0.05). Conclusion: Using special software and karyotype testing, the prenatal screening tests based on the maternal age and gestational age in the first trimester of pregnancy may determine the major risk of fetal chromosomal abnormalities. [ABSTRACT FROM AUTHOR]

We present a case of early diagnosed fetal supraventricular tachycardia in the 13th week of gestation. Fetal supraventricular tachycardia was confirmed at the reference centre with a ventriculo-atrial to atrio-ventricular (VA/AV) interval ratio of 1.06, indicating a form of tachycardia with a borderline VA interval. The ventricular inflows were characterized by monophasic filling without any signs of atrio-ventricular insufficiency. The ductus venosus demonstrated an abnormal velocimetry. Given the severity of the condition of the fetus, the medical team faced the challenge of quickly implementing transplacental therapy and the need to rule out trisomy 13. Therefore, a direct karyotyping was immediately performed. Next, the patient was qualified for amiodarone transplacental therapy. Follow-up scans revealed a reduction in nuchal translucency thickness, no signs of fetal oedema, restoration of sinus rhythm, and a normal flow profile in the ductus venosus. At 18 weeks and 4 days the therapy was terminated. The baby was born at 39 weeks of gestation through natural labour. Neonatal mass was 3840 g, and 10 points were scored on the Apgar scale. No abnormalities were found in ECG and neonatal echocardiography. The definitive cause of late first trimester supraventricular tachycardia in the described case has not been determined. [ABSTRACT FROM AUTHOR]

A vanishing twin (VT) occurs in up to 30% of early diagnosed twin pregnancies and is associated with an increased risk of fetal aneuploidy. Here, we describe our experience in a large VT population of 847 patients that underwent noninvasive prenatal testing (NIPT) for common fetal trisomies over a three-year period. All patients underwent an ultrasound examination prior to NIPT. Two comparison populations were included, namely, the singleton (n = 105,560) and the viable multiple gestation pregnancy samples (n = 9691) collected over the same period. All NIPT samples in the VT population received a result, of which 14 were high-risk for trisomy 21 (1.6%), nine for trisomy 18 (1.1%), and six for trisomy 13 (0.7%). Diagnostic testing confirmed the presence of trisomy 21 in 6/12 samples, giving a positive predictive value of 50%. One trisomy 18 case and no trisomy 13 cases were confirmed. The time between fetal demise and NIPT sampling did not appear to affect the number of true- or false-positive cases. In conclusion, NIPT is an effective screening method for trisomy 21 in the surviving fetus(es) in VT pregnancies. For trisomies 18 and 13, a positive NIPT should be interpreted carefully and ultrasound monitoring is preferrable over invasive diagnostic testing. [ABSTRACT FROM AUTHOR]

Currently, cell-free DNA (cfDNA) is offered as part of a contingent screening for patients with a first-trimester combined test (FCT) risk between 1/50 and 1/250. However, most aneuploidies are within the group of patients with a risk above 1/10. An observational, retrospective, and multi-centric study was carried out, to evaluate the theorical performance of lowering the cut-off point for the high-risk group from 1/50 to 1/10. Out of the 25,920 patients included, 25,374 (97.9%) consented to the cfDNA contingent screening for aneuploidies. With the proposed strategy, knowing that the detection rate (DR) of cfDNA testing for trisomy 21 is 99.7%, the DR for trisomy 21 would have stayed in a 93.2%, just as it was with the current strategy. In this instance, 267 (1.1%) invasive tests would have been performed, while the current strategy had a total of 307 (1.2%). The false positive rate (FPR) rate would have stayed at 5.2% in both scenarios. In conclusion, the contingent screening of aneuploidies based in the result of the FCT, offering the analysis of cfDNA to patients with an intermediate risk after lowering the cut-off point from 1/50 to 1/10, is a valid alternative that might maintain the current detection rates and avoid the complications associated with invasive testing. [ABSTRACT FROM AUTHOR]

Terminal 7q deletion is a rare chromosomal anomaly resulting from partial deletion of the long arm of chromosome 7. 7q terminal deletion syndrome results in variable clinical phenotypes, such as microcephaly, holoprosencephaly, craniofacial abnormalities, sacral hypoplasia, etc. We report a case of prenatal diagnosis of this syndrome with multiple abnormalities including holoprosencephaly and other craniofacial anomalies seen on ultrasound seen at NT scan. Pregnancy was terminated and chromosomal microarray showed ∼5.5 MB deletion in chromosome 7 spanning the 7q36.2-36.3 region. In addition, a literature review was done to enlist the various prenatal ultrasound features of this rare syndrome., (© 2024 The Authors. Published by Elsevier Inc. on behalf of University of Washington.)

Aim of the study: Trisomy 13 is the third most common autosomal trisomy. The following case report shows an atypical case of trisomy 13, highlighting the usefulness of 3D volume storage and reconstruction, and the necessity of careful interpretation of the first trimester screening results. Case description: The results of the first trimester screening tests were interpreted as normal, and invasive tests were not recommended. At 21 weeks, a bright spot in the left ventricle was noted, and fetal echocardiography was performed at 33 weeks. The scan showed a massive pericardial effusion and a pericardial tumor located in front of the right ventricle. Conclusions: The final diagnosis, made postnatally, revealed an atypical right-sided diaphragmatic hernia. Part of the liver was displaced to the pericardial cavity, mimicking a pericardial tumor in a baby with trisomy 13. Following the diagnosis of the lethal disorder, the baby was discharged under a home-based palliative care program and died on the 49th day of life.

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. [ABSTRACT FROM AUTHOR]

Background: A fast adoption of a non-invasive prenatal testing (NIPT) in clinical practice is a global tendency last years. Firstly, in Russia according a new regulation it was possible to perform a widescale testing of pregnant women in chromosomal abnormality risk. The aim of the study-to assess efficiency of using NIPT as a second-line first trimester screening test in Moscow.Methods: Based on the first trimester combined prenatal screening results 12,700 pregnant women were classified as a high-risk (cut-off ≥ 1:100) and an intermediate-risk (cut-off 1:101 - 1:2500) groups followed by whole genome NIPT. Women from high-risk group and those who had positive NIPT results from intermediate-risk group were considered for invasive prenatal diagnostic.Results: 258 (2.0%) samples with positive NIPT results were detected including 126 cases of trisomy 21 (T21), 40 cases of T18, 12 cases of T13, 41 cases of sex chromosome aneuploidies (SCAs) and 39 cases of rare autosomal aneuploidies (RAAs) and significant copy number variations (CNVs). Statistically significant associations (p < 0.05) were revealed for fetal fraction (FF) and both for some patient's (body mass index and weight) and fetus's (sex and high risk of aneuploidies) characteristics. NIPT showed as a high sensitivity as specificity for common trisomies and SCAs with an overall false positive rate 0.3%.Conclusions: NIPT demonstrated high sensitivity and specificity. As a second-line screening test it has shown a high efficiency in detecting fetus chromosomal anomalies as well as it could potentially lower the number of invasive procedures in pregnant women. [ABSTRACT FROM AUTHOR]

Fetal congenital heart disease (CHD) is often associated with chromosomal abnormalities. Our primary aim was to assess stillbirth and neonatal mortality rates for pregnancies complicated by trisomies 13, 18, and 21 in the presence of CHD, from a single tertiary referral center during 2000–2020 in a retrospective cohort study. The secondary aims were to investigate maternal morbidity in these pregnancies, and to study the gestational or neonatal age when mortality occurred. Inclusion criteria were the prenatal diagnosis of at least one structural CHD, together with prenatally diagnosed fetal trisomy 13, 18, or 21. One-hundred and sixty patients with fetal trisomy 13 (14.4%), fetal trisomy 18 (28.8%), and fetal trisomy 21 (56.9%) were evaluated. In total, 98 (61.3%) families opted for the termination of pregnancy (TOP). Of the remaining 62 (38.8%) pregnancies, 16 (25.8%) resulted in intrauterine fetal death/death during delivery. Ten out of twenty-one (47.6%) infants with trisomy 13 or 18 were born alive. The livebirth rate was 87.8% (36/41) for infants with trisomy 21. Early neonatal death was observed in nine (19.6%) infants. Thirty-one (86.1%) infants with trisomy 21 survived the first year of life. These data may be helpful for counseling affected parents when the decision to terminate or continue the pregnancy should be considered. [ABSTRACT FROM AUTHOR]

Objective  Care offerings vary across medical settings and between families for babies with trisomy 13 or 18. The purpose of this qualitative descriptive study was to explore nurse, advanced practice practitioner, and neonatologist perspectives on care for babies with trisomy 13 or 18 in the intensive care unit. Study Design  Voice-recorded qualitative interviews occurred with 64 participants (41 bedside nurses, 14 advance practice practitioners, and 9 neonatologists) from two neonatal intensive care units (NICU) in the midwestern United States. Consolidated Criteria for Reporting Qualitative Research guidelines were followed. Content analyses occurred utilizing MAXQDA (VERBI Software, 2020). Results  Over half of NICU staff perceived care for babies with trisomy 13 or 18 as different from care for other babies with critical chronic illness. Qualitative themes included internal conflict, variable presentation and prognosis, grappling with uncertainty, family experiences, and provision of meaningful care. Neonatologists emphasized the variability of presentation and prognosis, while nurses emphasized provision of meaningful care. Phrases "hard/difficult" were spoken 31 times; primarily describing the comorbidities, complexities, and prognostic uncertainty. Conclusion  Care for babies with these genetic diagnoses reveals need for a shared dialogue not only with families but also across staff disciplines. While perspectives differ, participants depicted striving to offer compassionate, family-centered care while also balancing biomedical uncertainty about interventions for children with trisomy 13 and 18. Key Points Care for babies with trisomy 13 or 18 has been recognized as shifting. Controversy exists across the diverse and changing range of care models. This study describes perspectives of bedside neonatal nurses, advanced practitioners, and neonatologists. Differences in perspectives warrant attentiveness to insights and dialogue across disciplines. [ABSTRACT FROM AUTHOR]

Objective: We present the application of quantitative fluorescent polymerase chain reaction (QF-PCR) for the rapid confirmation of trisomy 13 of maternal origin in a pregnancy with fetal holoprosencephaly (HPE), cyclopia, polydactyly, omphalocele and cell culture failure. Case report: A 21-year-old, gravida 2, para 0, woman was referred for termination of the pregnancy at 17 weeks of gestation because of the abnormal ultrasound finding of alobar HPE. The pregnancy was subsequently terminated, and a 118-g malformed male fetus was delivered with cyclopia, bilateral postaxial polydactyly of the hands and ruptured omphalocele. Postmortem cell culture of the placental tissue and umbilical cord was not successful. The parental karyotypes were normal. QF-PCR analysis using the polymorphic DNA markers of D13S1810, D13S790 and D13S251 on the DNA extracted from placenta, umbilical cord and parental bloods showed trisomy 13 of maternal origin. Conclusion: Perinatal diagnosis of concomitant HPE, polydactyly and omphalocele should raise a suspicion of fetal trisomy 13. QF-PCR analysis is useful for rapid confirmation of trisomy 13 and the parental origin especially under the circumstance of cell culture failure, and the information acquired is very useful for genetic counseling of the parents.

BackgroundSince its commercial release in 2011 cell-free DNA screening has been rapidly adopted as a routine prenatal genetic test. However, little is known about its performance in actual clinical practice.ObjectiveWe sought to investigate factors associated with the accuracy of abnormal autosomal cell-free DNA results.Study designWe conducted a retrospective cohort study of 121 patients with abnormal cell-free DNA results from a referral maternal-fetal medicine practice from March 2013 through July 2015. Patients were included if cell-free DNA results for trisomy 21, trisomy 18, trisomy 13, or microdeletions (if reported by the laboratory) were positive or nonreportable. The primary outcome was confirmed aneuploidy or microarray abnormality on either prenatal or postnatal karyotype or microarray. Secondary outcomes were identifiable associations with in vitro fertilization, twins, ultrasound findings, testing platform, and testing laboratory. Kruskal-Wallis or Fisher exact tests were used as appropriate.ResultsA total of 121 patients had abnormal cell-free DNA results for trisomy 21, trisomy 18, trisomy 13, and/or microdeletions. In all, 105 patients had abnormal cell-free DNA results for trisomy 21, trisomy 18, and trisomy 13. Of these, 92 (87.6%) were positive and 13 (12.4%) were nonreportable. The results of the 92 positive cell-free DNA were for trisomy 21 (48, 52.2%), trisomy 18 (22, 23.9%), trisomy 13 (17, 18.5%), triploidy (2, 2.2%), and positive for >1 parameter (3, 3.3%). Overall, the positive predictive value of cell-free DNA was 73.5% (61/83; 95% confidence interval, 63-82%) for all trisomies (by chromosome: trisomy 21, 83.0% [39/47; 95% confidence interval, 69-92%], trisomy 18, 65.0% [13/20; 95% confidence interval, 41-84%], and trisomy 13, 43.8% [7/16; 95% confidence interval, 21-70%]). Abnormal cell-free DNA results were associated with positive serum screening (by group: trisomy 21 [17/48, 70.8%]; trisomy 18 [7/22, 77.8%]; trisomy 13 [3/17, 37.5%]; nonreportable [2/13, 16.7%]; P = .004), and abnormal first-trimester ultrasound (trisomy 21 [25/45, 55.6%]; trisomy 18 [13/20, 65%]; trisomy 13 [6/14, 42.9%]; nonreportable [1/13, 7.7%]; P = .003). There was no association between false-positive rates and testing platform, but there was a difference between the 4 laboratories (P = .018). In all, 26 patients had positive (n = 9) or nonreportable (n = 17) microdeletion results. Seven of 9 screens positive for microdeletions underwent confirmatory testing; all were false positives.ConclusionThe positive predictive value of 73.5% for cell-free DNA screening for autosomal aneuploidy is lower than reported. The positive predictive value for microdeletion testing was 0%. Diagnostic testing is needed to confirm abnormal cell-free DNA results for aneuploidy and microdeletions.

The article focuses on the study to analyze umbilical artery (UA) Doppler velocimetry and its possible role in placenta-mediated fetal growth restriction (FGR) in second- and third-trimester fetuses with trisomy 18 and 13. It mentions that high prevalence of abnormal UA Doppler velocimetry was found in second- and third-trimester fetuses with trisomy 18 and 13, which further increased with gestational age.

Abstract This article presents the tenth reported case of monochorionic twins discordant for trisomy 13. Discordant aneuploidies in monochorionic twins are rare. Aetiologies include mitotic error in early cell division and “rescue” chromosome loss in an initially trisomic zygote. Clinicians should offer early amniocentesis of both sacs and consider selective termination.

Background: Children born with Trisomy 13 or 18 (T13/18) often have multiple congenital anomalies, many of which drastically shorten their lifespan. Among these defects are cleft lip and palate, the repair of which presents an ethical dilemma to the surgeon given the underlying comorbidities associated with T13/18. The authors present an ethical discussion and institutional experience in navigating this dilemma., Methods: The authors analyzed existing literature on T13 and T18 surgery and mortality. A retrospective study over ten years was also conducted to identify pediatric patients who underwent surgical correction of cleft lip and/or palate secondary to a confirmed diagnosis of T13/18. The authors identified two patients and examined their treatment course., Results: The authors' review of literature coupled with their institution's experience builds on the published successes of correcting cleft lip and palate in the setting of T13/18. It was found that both patients identified in the case series underwent successful correction with no surgical complications., Conclusion: A careful balance must be struck between improved quality of life, benefits of treatment, and risks of surgery in children with T13/T18. Careful consideration should be given to the medical status of these complex patients. If the remaining medical comorbidities are well managed and under control, there is an ethical precedent for performing cleft lip and palate surgeries on these children. A diagnosis of T13/T18 alone is not enough to disqualify patients from cleft lip/palate surgery., Competing Interests: Conflict of InterestThe authors have no conflicts of interest to disclose.

Patau syndrome or Trisomy 13 is the least common and most severe of the viable autosomal trisomies. The frequent clinical features include holoprosencephaly, polydactyly, flexion of the fingers, rocker-bottom feet, cleft lip and palate, neural tube defects, and heart defects, with neurological involvement being the most consistent one. It is usually recognized at birth by the typical birth defects with poor neurologic performance. About 85%‒90% of cases die during infancy, with only 5% to 10% of patients alive beyond 1 year. Patients surviving beyond 1 year have a severe developmental handicap. We present here an infant who came with a relatively milder form of Patau syndrome and was confirmed by karyotyping. [ABSTRACT FROM AUTHOR]

The aim of the study was to provide accurate information regarding live-born infant survival after diagnosis of fatal fetal anomaly (FFA) to aid decision-making in respect of pregnancy management, and to ascertain the natural history of live-born infants with FFAs via a retrospective analysis of death records (2006–2018), from the National Paediatric Mortality Registry (source Central Statistics Office 2019). Diagnoses and survival times were ascertained from narrative records with further ascertainment and reconciliation of trisomies 13 and 18 cases by review of cytogenetic test records, the National Death Events Register and National Perinatal Epidemiology Centre data. During the study period, termination of pregnancy was not permitted under the Irish Constitution. Patients are live-born babies with fatal fetal anomalies whose deaths were registered in the Republic of Ireland. The main outcome measure was construction of anomaly-specific survival curves, or survival time range and median for those anomalies with rare occurrence. Survival curves for anencephaly, bilateral renal agenesis, thanatophoric dysplasia, trisomy 13, and trisomy 18 show that 90% (n = 95), 93% (n = 60), 100% (n = 14), 37% (n = 92) and 33% (n = 162), respectively, were deceased by 24 h and 98%, 100%, 100%, 73%, and 53%, respectively, by 1 week post-delivery. Survival time range and median were calculated for triploidy (3.5 h–20 days; 10.5 days), whose occurrence was rare. Anhydramnios, craniorachischisis, hydranencephaly and severe hydrocephalus were extremely rare and all deaths were neonatal deaths. Our results provide 13 years of national natural history data of live birth FFA survival. This provides objective information to aid obstetric counselling of couples upon diagnosis of an FFA. [ABSTRACT FROM AUTHOR]

Background: Care for infants with Trisomy 13 and 18 is evolving with more children being offered medical and surgical interventions. Parents and clinicians of children diagnosed with trisomy 13 and 18 would benefit from understanding how parental goals of care correlate with the subsequent clinical course of children with these conditions. Objective: To describe and compare parental goals of care (GOC) and clinical course in infants with trisomy 13 and 18. Design: Single center, retrospective (2013-19) analysis of electronic health record repository at a birthing center and a tertiary care hospital. Measurements: ICD-9/10 codes were used to identify patients with trisomy 13 or 18 born between 2013-2019. Their records were abstracted for their diagnosis, hospitalization days, interventions, GOC, death location and length of life. Result: Twenty-eight total patients were identified; trisomy 13, mosaic trisomy 13 and trisomy 18 were diagnosed in 9, 2 and 17 patients respectively. Among the 26 patients with complete trisomy 13 or 18, 8 had life-prolonging and 18 had comfort care goals at birth/diagnosis. Life-prolonging goals were not associated with longer life (p = 0.36) but were associated with more mean hospital days (70 vs. 12, p = 0.01), ICU days (66 vs. 9, p = 0.009), intubation (7/8 vs 7/18, p = 0.04), and death in ICU (7/7 vs. 10/17, p = 0.02). Zero patients underwent cardiac surgery. Conclusion: Parental GOC did not affect length of life in children with complete trisomy, but did alter treatment intensity. This may inform decision making for patients with trisomy 13 or 18. [ABSTRACT FROM AUTHOR]

Patau syndrome when caused by attachment of an extra chromosome with chromosome 13 is called as full trisomy 13. It is caused by nondisjunction of chromosomes during meiosis. The extra chromosome disrupts normal development, causing multiple and complex organ defects. Children with trisomy 13 are born full term, but they rarely live more than a few days or weeks. Our patient was a 1-year-old female child who presented with various typical and atypical ocular and systemic findings of full trisomy 13. Her karyotyping showed the presence of an extra copy of chromosome 13. Anterior segment dysgenesis is known to occur with Patau's syndrome, but sclerocornea as a manifestation of full trisomy 13 has not been reported prior.

Objective  The conventional view toward the management of infants with the trisomy 18 and trisomy 13 syndromes has been to recommend pure comfort care and the avoidance of technological interventions. This commentary aims to address the recently raised question about whether there has been a shift in the paradigm of the management of infants with the two conditions. Study Design  The study design includes narrative review of the literature. Results  A body of opinion pieces and evidence has emerged indicating that there has been a recent increase in the administration of interventions, including ventilatory support and surgery, in the management of children with these syndromes. Conclusion  Based on the evidence in the literature, the author concludes that there has been a type of paradigm shift described by philosopher of science, Thomas Kuhn, in the treatment of infants with trisomy 18 and 13. More parents are being offered and choosing technological interventions, including cardiac surgery. Future investigation of the question whether intervention improves outcome, including the quality of life, is crucial in addressing the unanswered questions in this dialogue. Key Points The conventional approach to the treatment of trisomy 18 and 13 has been to avoid interventions. There is a growing body of evidence that this traditional view of management is changing. Future investigation of whether intervention improves outcome is crucial in addressing the unanswered questions. [ABSTRACT FROM AUTHOR]

Objective: To expand the limited knowledge on cell‐free DNA (cfDNA) analysis of maternal blood for trisomies 21, 18 and 13 in twin pregnancy by updating the data from The Fetal Medicine Foundation (FMF) on prospective first‐trimester screening and those identified in a systematic review of the literature. Methods: The FMF data were derived from prospective screening for trisomies 21, 18 and 13 in twin pregnancies at 10 + 0 to 14 + 1 weeks' gestation using the Harmony® prenatal test. A search of MEDLINE, EMBASE, CENTRAL (The Cochrane Library), ClinicalTrials.gov and the International Clinical Trials Registry Platform (World Health Organization) was carried out to identify all peer‐reviewed publications on clinical validation or implementation of maternal cfDNA testing for trisomies 21, 18 and 13 in twin pregnancy, irrespective of gestational age at testing, in which data on pregnancy outcome were provided for at least 85% of the study population. Meta‐analysis was performed using the FMF data and data from the studies identified by the literature search. This review was registered in the PROSPERO international database for systematic reviews Results: In the FMF study, cfDNA testing was carried out in 1442 twin pregnancies and a result was obtained, after first or second sampling, in 1367 (94.8%) cases. In 93.1% (1272/1367) of cases, there was prenatal or postnatal karyotyping or birth of phenotypically normal babies; 95 cases were excluded from further analysis either because the pregnancy ended in termination, miscarriage or stillbirth with no known karyotype (n = 56) or there was loss to follow‐up (n = 39). In the 1272 pregnancies included in the study, there were 20 cases with trisomy 21, 10 with trisomy 18, two with trisomy 13 and 1240 without trisomy 21, 18 or 13. The cfDNA test classified correctly 19 (95.0%) of the 20 cases of trisomy 21, nine (90.0%) of the 10 cases of trisomy 18, one (50.0%) of the two cases of trisomy 13 and 1235 (99.6%) of the 1240 cases without any of the three trisomies. The literature search identified 12 relevant studies, excluding our papers because their data are included in the current study. In the combined populations of our study and the 12 studies identified by the literature search, there were 137 trisomy‐21 and 7507 non‐trisomy‐21 twin pregnancies; the pooled weighted detection rate (DR) and false‐positive rate (FPR) were 99.0% (95% CI, 92.0–99.9%) and 0.02% (95% CI, 0.001–0.43%), respectively. In the combined total of 50 cases of trisomy 18 and 6840 non‐trisomy‐18 pregnancies, the pooled weighted DR and FPR were 92.8% (95% CI, 77.6–98.0%) and 0.01% (95% CI, 0.00–0.44%), respectively. In the combined total of 11 cases of trisomy 13 and 6290 non‐trisomy‐13 pregnancies, the pooled weighted DR and FPR were 94.7% (95% CI, 9.14–99.97%) and 0.10% (95% CI, 0.03–0.39%), respectively. Conclusions: In twin pregnancy, the reported DR of trisomy 21 by cfDNA testing is high, but lower than that in singleton pregnancy, whereas the FPR appears to be equally low. The number of cases of trisomy 18 and more so trisomy 13 was too small for accurate assessment of the predictive performance of the cfDNA test. © 2021 International Society of Ultrasound in Obstetrics and Gynecology. [ABSTRACT FROM AUTHOR]

To determine the prevalence and influence of clinically significant airway and/or respiratory abnormalities in patients with trisomy 13 and 18 undergoing cardiac surgery. We performed a retrospective, case-control cohort study of all patients with known trisomy 13 or 18 who underwent cardiac operations at our institution from 1994 to 2014. Cases were matched 3:1 by age, surgical date, and cardiac lesion with nontrisomy 13/18 patients. Baseline clinical characteristics and patient outcomes, including postoperative course and management were compared. Descriptive statistics and Wilcoxon rank-sum test or Fisher exact test as appropriate were used to determine significant differences. In the 14 trisomy 13/18 patients who underwent cardiac surgery, there was an increased incidence of postoperative complications. Specifically, 93% had airway or pulmonary complications, including prolonged mechanical ventilation (n = 8), prolonged noninvasive positive pressure ventilation (n = 6), re-intubation (n = 7), tracheitis/pneumonia (n = 6), and tracheostomy (n = 2). The duration of intubation was longer (7.5 vs 2 days; P <.0001) as was the duration of noninvasive positive pressure ventilation (8 vs 2 days; P <.04) with longer hospital length of stay in the trisomy 13/18 cohort. There was 1 in-hospital mortality, with none in the control group. Although most trisomy 13/18 patients survive cardiac surgery, these patients have an increased incidence of airway complications, requiring longer intensive respiratory support postoperatively that contributes to longer length of stay. Parental guidance before cardiac surgery should include a discussion about postoperative airway management. Comparison of the postoperative course following cardiac surgery in trisomy 13 and 18 (T13/18) patients versus control patients. VSD , Ventricular septal defect; AVSD , atrioventricular septal defects; TOF , tetralogy of Fallot; CoA , coarctation of the aorta. [Display omitted] [ABSTRACT FROM AUTHOR]

Objective: We present low-level mosaic trisomy 13 at amniocentesis associated with a favorable outcome in a pregnancy. Case report: A 39-year-old woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 47,XY,+13[8]/46,XY[20]. The woman underwent cord blood sampling at 22 weeks of gestation. Cytogenetic analysis of cord blood revealed a karyotype of 47,XY,+13[2]/46,XY[98]. Array comparative genomic hybridization (aCGH) analysis on the DNA extracted from cord blood revealed 10% gene dosage increase in chromosome 13. Prenatal ultrasound findings were unremarkable. After genetic counseling, the parents decided to continue the pregnancy, and a 2,280-g healthy male baby was delivered at 38 weeks of gestation. The parental karyotypes were normal. The cord blood at birth had a karyotype of 47,XY,+13[1]/46,XY[49]. At age one month, interphase fluorescence in situ hybridization (FISH) analysis revealed no trisomy 13 signals in 100/100 buccal mucosal cells, and trisomy 13 signals in 2/54 (3.7%) urinary cells compared with 0/60 cells in the normal control. The neonate was doing well and presented neither phenotypic abnormalities nor psychomotor disorders at age two months. Conclusion: Low-level true mosaic trisomy 13 at amniocentesis without ultrasound abnormalities can be associated with a favorable outcome.

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. [ABSTRACT FROM AUTHOR]

Fetal congenital heart disease (CHD) is often associated with chromosomal abnormalities. Our primary aim was to assess stillbirth and neonatal mortality rates for pregnancies complicated by trisomies 13, 18, and 21 in the presence of CHD, from a single tertiary referral center during 2000–2020 in a retrospective cohort study. The secondary aims were to investigate maternal morbidity in these pregnancies, and to study the gestational or neonatal age when mortality occurred. Inclusion criteria were the prenatal diagnosis of at least one structural CHD, together with prenatally diagnosed fetal trisomy 13, 18, or 21. One-hundred and sixty patients with fetal trisomy 13 (14.4%), fetal trisomy 18 (28.8%), and fetal trisomy 21 (56.9%) were evaluated. In total, 98 (61.3%) families opted for the termination of pregnancy (TOP). Of the remaining 62 (38.8%) pregnancies, 16 (25.8%) resulted in intrauterine fetal death/death during delivery. Ten out of twenty-one (47.6%) infants with trisomy 13 or 18 were born alive. The livebirth rate was 87.8% (36/41) for infants with trisomy 21. Early neonatal death was observed in nine (19.6%) infants. Thirty-one (86.1%) infants with trisomy 21 survived the first year of life. These data may be helpful for counseling affected parents when the decision to terminate or continue the pregnancy should be considered.