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Genetic Autopsy
doi:
10.1055/s-0038-1656462
Complex Cardiac Defect in a Fetus with Trisomy 18: A Case Report
1Department of Medical Genetics, Nizam's Institute of Medical Sciences, Hyderabad
2Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad
Address for correspondence
shagun.genetics@gmail.com
Indian Journal of Cardiovascular Disease in Women
Disclaimer:
This article was originally published by Thieme Medical and Scientific Publishers Private Ltd. and was migrated to Scientific Scholar after the change of Publisher.
This article was originally published by Thieme Medical and Scientific Publishers Private Ltd. and was migrated to Scientific Scholar after the change of Publisher.
Abstract
Abstract
This is a case report of a foetus which was brought for postmortem evaluation following antenatal detection of a complex cardiac defect. Presence of dysmorphism and other malformations like gut malrotation, bladder outlet obstruction, and esophageal stenosis led to suspicion of a syndromic diagnosis. Fetal karyotyping confirmed a diagnosis of Trisomy 18 (Edwards syndrome). This facilitated appropriate genetic counseling of the family and guidance for prenatal diagnosis in subsequent pregnancies.
