Genetic abnormalities in sonographically detected heart diseases in antenatal period: A case series

Abstract

: Recent advances in molecular genetic techniques have found evidence of the role of genetic factors in the development of CHD. Approximately 30% of CHD is thought to be related to genetic syndromes accompanied by extra-cardiac anomalies. We describe the cases of cardiac anomalies detected on prenatal ultrasound, which helped us in suspecting the genetic abnormality in fetus which were later confirmed by definitive testing.: Prospective evaluation and follow up of 10 cases done which showed cardiac and extracardiac findings suspicious of chromosomal disorder. : Definitive testing showed genetic abnormality in (N = 10) cases. We could detect Trisomy 21 in (N = 3), Trisomy 18 in (N=2), Trisomy 13 in (N=2), Triploidy in (N=1) and Monosomy X (Turners) in (N=2) cases in our series. Detection of abnormal cardiac findings can definitely improve the detection rate of genetic disorders and positive yield of genetic testing.