Abstract :
Background: 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.
Materials and Methods: Prospective evaluation and follow up of 10 cases done which showed cardiac and extracardiac findings suspicious of chromosomal disorder.
Conclusion: 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.
Keyword :
Congenital heart disease, Genetic abnormalities, Prenatal, Cardiac genetic, Ultrasound.