Placental Pathology in Maternal Ornithine Transcarbamylase Deficiency

Introduction Ornithine transcarbamylase (OTC) deficiency is the most common urea cycle disorder, inherited in an X-linked manner. Males are severely affected. Female phenotypes vary from asymptomatic to severe, and symptoms may be triggered by high metabolic states like childbirth. Literature on OTC deficiency in pregnancy and placental pathology is limited. Methods Pathology records were searched at a single referral center from 2000–2020 and identified three placental cases from two mothers heterozygous for OTC deficiency. Placental pathology and maternal and neonatal history were reviewed in detail. Results The placenta from one symptomatic mother carrying an affected male fetus showed widespread high-grade fetal vascular malperfusion (FVM) lesions of varying age. These lesions were not seen in the two placentas from the asymptomatic mother. Discussion In cases of symptomatic maternal OTC deficiency, our findings highlight the need for placental examination. Since thrombotic events in the placenta have the potential to associate with fetal and neonatal endothelial damage, a high index of suspicion for neonatal thrombosis may be warranted.

Case series on uterine rupture depicting the atypical presentations in the labour room

Uterine rupture is the complete division of all the three layers of uterus. Most uterine ruptures occur during labor in pregnant women, most commonly seen in previously scarred myometrium. Consequences of uterine rupture depend on the time between diagnosis of uterine rupture and intervention, and can be as grave as fetal and maternal death. Vigilance and avid action by the obstetrician can lead to better outcomes. Case 1 represented a 28-year-old moderately anemic G4P2L2A1 having previous 2 LSCS at POG 39 weeks 1 day presented in COVID emergency in active labour and was found to have a uterine scar rupture (5 cm rent) extending towards bladder wall with shoulder presenting on rent. A live female baby with thick meconium staining was delivered and uterine repair along with bilateral tubectomy was performed. Case 2 represented a 21-year-old primigravida with breech presentation at a gestation of 34 weeks 6 days with preterm labour pains who had been referred to our centre. Decision for LSCS was taken and on entering the abdomen rupture uterus with an inverted T-shaped rent in the upper segment extending up to the fundus was seen. A stillborn male fetus was delivered through the rent, followed by successful uterine repair. In spite of massive blood loss, the mother had survived. Case 3 represented a 30-year-old grand multipara at a gestation of 38 weeks 3 days with ultrasound documented fetal demise with fetal hydrocephalus and holoprosencephaly with labour pains was taken up for laparotomy due to suspicion of uterine rupture based on examination findings. Intra-operatively, baby was found lying in the peritoneal cavity with an unsalvageable uterus with a rupture in lower uterine segment and left lateral wall extending upto round ligament above and cervix below. A stillborn male fetus was delivered and peripartum subtotal hysterectomy with left salpingoophorectomy and right salpingectomy was done with a good maternal outcome. The above series suggest that the signs and symptoms of uterine rupture are usually variable and nonspecific, hence posing a challenge for the diagnosis. Early diagnosis and timely intervention by the obstetrician, can help us to improve the fetal and maternal outcome drastically.

Prenatal Diagnosis and Outcome of Tracheal Agenesis as Part of Congenital High Airway Obstruction Syndrome. Case Presentation and Literature Review

Tracheal atresia is an extremely rare condition whereby a partial or total obstruction of the trachea is seen. It is almost always lethal, with just a handful of cases that ended with a good outcome. In this study we report on a 15-week male fetus, diagnosed with hyperechogenic lungs, midline heart position and inverted diaphragm. Sonographic findings suggest congenital High Airway Obstruction Syndrome (CHAOS) An ultrasound scan and fetal MRI were not able to point out the exact obstruction level. In spite of extensive counselling, the parents opted to carry on with the pregnancy. Fetal demise was noted on a scan at 19 weeks gestation. After the elective termination of pregnancy, a post-mortem examination showed partial tracheal atresia with no other anomalies. Despite technological progress in CHAOS syndrome, a precise diagnosis and accurate prognosis remain elusive.

DANDY WALKER MALFORMATION: A RARE CASE REPORT

Dandy-Walker malformation (DWM) or syndrome is a posterior fossa anomaly characterized by agenesis or hypoplasia of the vermis and cystic enlargement of the fourth ventricle causing upward displacement of tentorium and torcula. Most patients have hydrocephalus at the time of diagnosis. DMW is the most common posterior fossa malformation, and it typically occurs sporadically. This is a case report of male fetus that was diagnosed to have Dandy Walker Malformation during the antenatal obstetric scans.

Genetic analysis of father-daughter incest using multifaceted STR markers and study of inheritance pattern of alleles

Background: Two cases involving father-daughter incest, a rare report in the Indian population, have been analyzed in the current study. STR markers on both autosomal and sex chromosomes were employed to expound the cases. Objective: To confirm the identity of the fetus as a product of father-daughter incest and to study the inheritance pattern of alleles in such cases. Results: In both cases, the aborted fetus was found to be the product of an incestuous father-daughter relationship. The probability of paternity as well as maternity was found to be >99.9999% in both cases. Analysis of other paternity and forensic parameters also substantiated the inclusion of the alleged individuals. Father-daughter incest had a tremendous effect on the genome as evidenced from the dramatical decrease in unrelated alleles between father/child [16.66% (Case 1), 20% (Case 2)] and mother/child [26.66% (Case 1), 21.66% (Case 2)]. Genetic evidence also suggested an increased biallelic match i.e., 26.66% (Case 1) and 33.33% (Case 2) between mother and fetus which are at par/ above the normal siblings’ values i.e., 26.66%. Conclusion: A significant increase in the percentage of homozygous alleles (53.33% in both cases) was observed in the product of father-daughter incest. Both daughters share the same X chromosome from the father, which also suggested the case to be of father-daughter incest. Similarly, the same Y-STR profile between the male fetus and alleged father confirmed the correct pattern of inherit1ance of the Y chromosome in this case.

Risk Factors of Early-Onset Neonatal Sepsis A Systematic Review and Meta-Analysis

Background: Early-onset neonatal sepsis is a great managerial challenge worldwide. Studying the risk factors of early-onset neonatal sepsis is one of the most significant ways of reducing the incidence of sepsis and the associated health burden.Methods: A literature search strategy was constructed, including PubMed, EMBASE, Web of Science, and the Cochrane Library. All publications until April 30, 2021 were retrieved; the key words were “neonatal sepsis” and “risk factors.” Moreover, the references of the retrieved articles were screened to identify related eligible studies. Data abstraction was performed in accordance with PRISMA guidelines. The Newcastle-Ottawa Scale and Agency for Healthcare Research and Quality scale scores were used to evaluate the quality of the included studies, and the fixed-effects model was used to combine the results. Risk factors related to the occurrence of early-onset neonatal sepsis, the pooled OR, and the 95% CI upper and lower limits were obtained to represent the correlation strength between risk factors and early-onset neonatal sepsis occurrence; the pooled I2 value was used to determine the heterogeneity of the combined results.Results: We included 21 articles with 44 non-repetitive risk factors, 91985 neonates, and 6627 cases of neonatal sepsis. We identified seven independent risk factors of early-onset neonatal sepsis, including at least three per vaginal examinations during labor and delivery, chorioamnionitis, premature rupture of membranes > 18 h, male fetus, gestational age < 37 weeks, neonatal resuscitation, and central venous catheterization, with the following ORs and 95% CIs: 7.18 (3.51-14.69), 6.56 (3.19-13.49), 2.74 (1.44-5.21), 3.03 (1.94-4.73), 4.08 (2.76-6.03), 2.6 (2.03-3.34), and 3.06 (1.64-5.73), respectively.Conclusions: Our results suggest that frequent per vaginal examination during labor and delivery, chorioamnionitis, premature rupture of membranes (> 18 h), male fetus, gestational age (< 37 weeks), neonatal resuscitation, and central vascular catheterization are independent risk factors of early-onset neonatal sepsis. These findings support the use of empirical antibiotic therapy in neonates with these risk factors.

Multiple cardiac rhabdomyomas not associated with tuberous sclerosis in a dizygotic twins: a case report

Background Rhabdomyomas comprise the majority of cardiac tumors in fetuses and are found in association with tuberous sclerosis complex. More than 90% of fetuses and neonates with multiple cardiac rhabdomyomas have signs of tuberous sclerosis complex. However, solitary cardiac rhabdomyoma cases are largely unrelated to tuberous sclerosis complex. Here, we report a case involving multiple cardiac rhabdomyomas not associated with tuberous sclerosis complex in a dizygotic twin. Case presentation A 36-year-old Japanese woman was diagnosed with a dizygotic twin pregnancy in the first trimester. Consistent with dizygosity, the fetal sex was discordant (male and female). At 27 weeks of gestation, hydrops and multiple echogenic cardiac masses were noted in the male baby, with the largest mass measuring 34 × 30 mm. The female fetus appeared normal. The cardiac masses enlarged gradually with the progression of the hydrops. At 32 weeks of gestation, intrauterine death of the male fetus was confirmed. The next day, autopsy of the male fetus was performed after cesarean section. Three well-demarcated white-tan-colored nodules were formed in the ventricular walls and interventricular septum, with the largest nodule (40 × 30 mm) in the left ventricular wall. Histologically, these lesions were diagnosed as rhabdomyomas. Conclusions We encountered a case involving multiple cardiac rhabdomyomas arising in one of dizygotic twin fetuses. Unlike most reported cases of multiple cardiac rhabdomyomas, this case was not accompanied by tuberous sclerosis complex. To the best of our knowledge, this is the first case report of multiple cardiac rhabdomyomas that developed in only one of dizygotic twins in the English literature.

Can SARS-CoV-2 Induce Uterine Vascular Anomalies and Poor Contractile Response?—A Case Report

We are reporting a case of a 36 year-old Severe Acute Respiratory Syndrome Coronavirus-2 (SARS-CoV-2) positive hypertensive primigravida with postpartum uterine atony that required emergency subtotal hysterectomy at Saint John Hospital Bucur Maternity Bucharest. The maternity was designated as the Coronavirus Disease 2019 (COVID-19) Maternity for Bucharest and Ilfov County since March 2020. The patient was mildly symptomatic for SARS-CoV-2, infection confirmed with reverse transcription polymerase chain reaction (RT-PCR). The caesarean section was performed and a live male fetus was born, 2630 g and Apgar Score of 9 (the male fetus was negative for SARS-CoV-2). Postpartum hysterectomy with adnexal preservation was performed because of uterine atony. The postoperative evolution was favorable. The patient was discharged with her baby 10 days after birth. Given the limited resources, the placenta, the umbilical cord and the uterus were not tested for SARS-CoV-2. The pathology exam revealed that on the maternal side there were specific uterine atony lesions as well as endometrial and miometrial ischaemia. The placenta had nonspecific findings: chronic ischemic lesions with small villi, fibrin deposits in the materno-fetal interface. The peculiarity of the case is that we report the morphological findings of the placenta and uterus resulted from intrapartum uterine atonia in a patient with gestational arterial hypertension, premature birth and COVID-19. Further studies are required to characterize the pattern of such intricate conditions.

Prenatal diagnosis of de novo small supernumerary marker chromosome 4q (4q11-q12): A case report

Background: Small supernumerary marker chromosomes (sSMCs) are chromosomal fragments with abnormal structures found in patients with fertility problems and developmental delay. They may be detected in amniotic cell karyotypes. sSMCs are categorized as hereditary or de novo. Here, we describe a case of prenatal de novo 4q11q12 sSMC and its molecular cytogenetic features which had no apparent phenotypic abnormality. Case: The fetus of a 36-yr-old pregnant woman was detected positive for Down’s syndrome (trisomy 21) at the 16th wk of gestation. Quantitative fluorescent polymerase chain reaction technique was applied for the rapid detection of numerical aneuploidy of chromosomes X, Y, 13, 18, and 21 microsatellites. Array comparative genomic hybridization (array CGH) technique was also conducted following the karyotype analysis of amniotic cells. The karyotype analysis was also done for the parents. Quantitative fluorescent polymerase chain reaction result revealed a male fetus with a normal chromosomal pattern, while the amniocentesis karyotype analysis identified a male fetus with a marker chromosome (47, XY, +mar), and the sSMC were existing in 100% of amniocyte metaphase spreads. The parents’ normal karyotypes indicated that the sSMC was de novo. Array CGH analysis revealed a 6.48-Mb duplication at 4q11q12. Eventually, the parents decided to terminate the pregnancy by legal abortion. Conclusion: Our study highlights the importance of the application of array CGH in combination with karyotype analysis for rapid and precise prenatal diagnosis of partial aneuploidy region. Key words: Prenatal diagnosis, Array CGH, Chromosome 4, Chromosome markers.