P10.03: Recurrent congenital cardiac anomaly in 3 consecutive pregnancies

Abstract

Introduction: Congenital heart disease is one of the common fetal anomalies. Incidence of CHD is about 12 per 1000 live births. The causes are chromosomal (5 to 6%), single gene defects (3 to 5%), or environmental factors (2%). Risk increases if mother or sibling had CHD up to 10%. In 85 to 90% of cases, there is no identifiable cause and are generally considered to be caused by multifactorial inheritance. Material and methods: We report a case of phenotypically normal 28 year old woman who had overall three consecutive aberrant pregnancies with complex congenital heart disease. She had all three spontaneous vaginal delivery in 2008, 2011 and in 2012 with VSD with Pulmonary stenosis, VSD and pulmonary stenosis, overriding of aorta with pulmonary stenosis respectively. All of them required surgery soon after birth. Second child had survived for few months and died after few months of birth. She did not wish to have prenatal diagnosis in either pregnancy. However, she attended to the geneticist for genetic/chromosomal analysis for herself and her husband while pregnant with her third child. She was asked to wait till delivery and the chromosomal analysis of the baby first. Discussion: Most likely cause can be that the affected fetus inherited the interstitial 22q11.2 microduplication from the mother. The 22q11.2 microduplication carried by one of the healthy parents has most likely contributed to the recurrent fetal heart defects. Conclusions: High-resolution oligonucleotide microarray analysis can show possible intrafamilial variability of a 22q11.2.