Recurrent Vein of Galen Aneurysmal Malformation as a Presentation of Hereditary Hemorrhagic Telangiectasia.

Introduction: Vein of Galen malformation (VGM) results from an aneurysmal aberration with an arteriovenous shunting of blood and is the most frequent arteriovenous malformation in infants and fetuses. The congenital malformation develops during weeks 6-11 of fetal development. Infants often die from high-output congestive heart failure. VGM is mostly considered as a sporadic condition with minimal recurrence risk in subsequent pregnancies. Mendelian forms of VGM have rarely been described as infrequent phenotypic presentations of 2 disorders: capillary malformation-arteriovenous malformation syndrome (RASA1, EPHB4) and hereditary hemorrhagic telangiectasia (ENG, ACVRL1, and SMAD4), both showing autosomal dominant inheritance. Case Presentation: Here, we report on a consanguineous couple with recurrent VGM in 2 pregnancies. Both partners were found to be affected by hereditary hemorrhagic telangiectasia due to a known pathogenic heterozygous c.790G>A (p.Asp264Asn) variant in ENG. Fetal DNA was unavailable, however in view of the mild phenotype in the couple, along with the severe prenatal presentation in 2 pregnancies, the fetus was presumed to be homozygous for the ENG variant. A subsequent pregnancy revealed a fetus heterozygous for the variant, which had an uneventful perinatal course. Conclusion: This report highlights a severe perinatal lethal phenotype due to biallelic variants in a gene hitherto known to cause an autosomal dominant disorder.

Prenatal diagnosis of vascular rings and outcome.

BACKGROUND: Vascular rings (VRs) present with varied symptoms and may result in significant morbidity before an accurate diagnosis is made. Prenatal diagnosis may be useful to plan surgery after birth. OBJECTIVES: The purpose of the study was to see the feasibility of accurate diagnosis of VR during antenatal ultrasound examination and describe their outcome. METHODS: This is a retrospective observational study between January 2014 and December 2019. Vascular rings were diagnosed on the basis of three vessel tracheal view and neck vessels arrangements on fetal echocardiogram. Postnatal evaluation by transthoracic echocardiography and computerized tomography angiogram was performed. Surgical repair was done as per standard indications. RESULTS: A total of 35 cases of fetal VRs (median gestational age: 24 weeks [range: 19-35]) were diagnosed during the study period. There were four dichorionic diamniotic twin gestation pregnancies. The right aortic arch (RAA) with anomalous left subclavian artery (ALSA) was suspected in 31 fetuses, double aortic arch (DAA) in 3, and circumflex aorta in 1. Twenty-six (74%) patients had successful deliveries. One patient had a spontaneous miscarriage, 2 underwent termination, and 6 were lost to follow-up. Postnatal assessment showed RAA with ALSA in 18, DAA in 5, circumflex aorta in 2, and no abnormality in 1. Twenty-two (86%) were operated (RAA with ALSA: 17, DAA: 4, and circumflex aorta: 1) and four were waiting for surgery. Two patients died due to prematurity-related complications. All survivors are symptom free during follow-up (median: 2.24; range: 0.2-5.6 years). CONCLUSIONS: Fetal echocardiography enables prenatal diagnosis and planning of postnatal repair of VRs.

A case of hydrometrocolpos and polydactyly.

Neonatal hydrometrocolpos (HMC) is a rare Mullerian duct anomaly with an incidence of 0.006%. It occurs due to blockage of the vagina with accumulation of mucus secretions proximal to the obstacle. These secretions are secondary to intrauterine and postnatal stimulation of uterine and cervical glands by maternal estrogens. A triad of congenital HMC, polydactyly, and cardiac anomalies are the cardinal features of McKusick-Kaufman syndrome, which is also known as hydrometrocolpos-polydactyly syndrome. Bardet-Biedl syndrome is a well-known combination of hypogonadism, obesity, postaxial polydactyly, renal dysplasia, retinal degeneration, and mental impairment. In this case report, we describe a neonate with HMC, polydactyly, and hydronephrosis.

The impact of labour epidural analgesia on the childbirth expectation and experience at a tertiary care center in southern India.

BACKGROUND: Labour epidural analgesia is increasingly used as a means of pain relief for women during labour and delivery. The significant pain during labour and delivery can be terrifying for mothers-to-be and the prospect of relief from pain can help reduce fear of childbirth to an extent. However, it is not necessary that reduced fear of childbirth may lead to an increased satisfaction with the childbirth experience. AIM: To determine the influence of labour epidural analgesia (LEA) on the experience of childbirth in pregnant women at a tertiary care center in southern India Materials and Methods: A pre-post interventional non-randomized study design at a tertiary care perinatal institute that used the Wijma Delivery Expectation and Experience questionnaires to determine baseline expectations of labour and childbirth and the actual experience in pregnant women. Labour analgesia was provided on maternal request or demand. Total and domain scores were compared between the two groups using non-parametric tests and a generalized linear repeated measures model after adjusting for factors that were found significant in the bivariate model. RESULTS: The study included 235 pregnant women who opted for LEA and 219 pregnant women who opted against LEA. Overall, 37 (15.74%) of woman with LEA and 30 (13.70%) of women without LEA had a worse than expected experience of childbirth. Significant pain relief (p<0.001) was provided with LEA, however, the post-delivery scores did not differ significantly between the two groups (F=0.90, p=0.34) in a generalized linear repeated measures model. CONCLUSION: Maternal satisfaction with the process of childbirth is a complex dynamic that is not limited to the significant relief from pain provided by LEA.

Cross-sectional study of gestational weight gain and perinatal outcomes in pregnant women at a tertiary care center in southern India.

AIM: The aim of this study was to determine maternal and neonatal outcomes of less than recommended or excess gestational weight gain (GWG) based on the recommended Institute of Medicine (IOM) guidelines. MATERIAL AND METHODS: Using a cross-sectional study design, GWG was assessed for 1462 pregnant women presenting to a tertiary care perinatal institute in India. Body mass index at baseline, co-existing morbidities, fetal growth, details of delivery, and maternal and fetal outcomes were determined and documented. Appropriate GWG for each woman was determined based on the revised IOM guidelines. Outcome measures included the proportion of pregnant women compliant with IOM guidelines for GWG and associations of less than recommended or excess GWG with maternal and neonatal outcomes. RESULTS: A total of 547 (37.41%, 95% confidence interval [CI]: 34.96-39.92) pregnant women gained less than recommended and 313 (21.41%, 95%CI: 19.36-23.57) pregnant women gained more than the recommended weight. Preterm deliveries were associated with less than optimal weight gain (adjusted odds ratio 3.58, 95%CI: 1.75-7.32) after adjusting for gestational age at delivery. GWG was not associated with neonatal outcomes in this population. CONCLUSIONS: The lack of associations with perinatal outcomes indicates that the IOM guidelines may not be the appropriate standard for monitoring GWG in this population.

Pallister-Hall syndrome presenting as an intrauterine fetal demise at 39 weeks' gestation.

Pallister-Hall syndrome (PHS) is a pleiotropic autosomal-dominant malformation syndrome rarely presenting with genitourinary malformations. Literature has recorded 14 cases of PHS with genitourinary findings out of which only six have been females presenting with hydrometrocolpos and/or vaginal atresia. Fetal autopsy findings on a 39 weeks' gestation including demonstration of corticotroph deficiency in the pituitary, along with the review of literature is being presented here. None of the earlier literature pertaining to PHS with hydrometrocolpos and/or vaginal atresia describes an intrauterine fetal demise due to corticotroph deficiency.