ABSTRACT
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.
ABSTRACT
BACKGROUND: Pre-Eclampsia (PE) affects 6-31% of pregnant women with multiple gestations. There are conflicting reports on the association of PE with Chorionicity and zygosity; however, there is a lack of information on this potential association in a population of pregnant Asian Indian women. AIM: To determine as to whether chorionicity and zygosity were associated with PE in a population of Asian Indian women with twin gestations. SETTINGS AND DESIGN: A retrospective observational study was done at a single tertiary care centre in Southern India. MATERIAL AND METHODS: The study included pregnant women with twin gestations, who was delivered at the study institute in 2012. Hypertension in pregnancy was categorized, based on the criteria of the International Society for the Study of Hypertension in Pregnancy. Chorionicity was determined by using ultrasonography and zygosity was determined, based on clinical criteria. Point estimates and the 95% Confidence Intervals (CI) around point estimates of PE and associations of chorionicity and zygosity with PE were determined by using bivariate analysis, logistic regression models and area under Receiver Operator Characteristic (ROC) curves. RESULTS: This study included 208 women with twin gestations. The incidence of PE in dichorionic twin gestations was 13.17% (n=22, 95% CI: 8.66, 18.96), it was 4.87% (n=2, 95% CI: 0.83, 15.19) in monochorionic twin gestations, it was 16.36% (n=9, 95% CI: 8.29, 27.91) in dizygous twin gestations and it was 4.88% (n=2, 95% CI: 0.83, 15.19) in monozygous twin gestations. Neither chorionicity (adjusted OR: 2.59, 95% CI: 0.55, 12.19) nor zygosity (adjusted OR 2.72, 95% CI: 0.49, 15.13) were associated with PE In a multivariate logistic regression model. CONCLUSION: Although it was not statistically significant, the clinical incidence of PE was higher in dichorionic and dizygous twin gestations.
ABSTRACT
AIM: The aim of this study was to determine the distribution and associations of birthweight in twin pairs among a population of pregnant women in south India. MATERIAL AND METHODS: This was a retrospective case record analysis of 705 twin pair pregnancies during the period 2008-2012. Associations of birthweight with maternal age, parity, pregnancy-induced hypertension (PIH), gestational diabetes, obesity, chorionicity and sex of the twin pairs was explored using bivariate and multivariate analysis. RESULTS: The median birthweight (4250 g, interquartile range 3530-4810) of dichorionic twins was significantly higher (P < 0.0001) than monochorionic twins (3880 g, interquartile range 3000-4380). Birthweight was associated with chorionicity (t = 4.04, P < 0.001), obesity (t = 2.44, P = 0.03), nulliparity (t = -2.87, P = 0.004), and PIH (t = -2.11, P = 0.04) in a multivariate linear regression model. Birthweights did not differ significantly between female-male and female-female pairs (t = 0.11, P = 0.81), female-male and male-male pairs (t = -0.62, P = 0.54) or female-female and male-male pairs (t = -0.78, P = 0.43) in a multivariate linear regression model. The highest birthweight of the twin pair did not differ significantly (t = 1.27, P = 0.21) by sex of the twin. CONCLUSIONS: Birthweight of twins was significantly associated with chorionicity, obesity, PIH and nulliparity in this population. A potential masculinization effect was not found as the total birthweights did not differ significantly by sex of the twin pairs.
