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Genetic Autopsy
02 (
01
); 068-071
doi:
10.1055/s-0038-1656462

Complex Cardiac Defect in a Fetus with Trisomy 18: A Case Report

Department of Medical Genetics, Nizam's Institute of Medical Sciences, Hyderabad
Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad
Address for correspondence shagun.genetics@gmail.com
Licence
This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)
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; therefore Scientific Scholar has no control over the quality or content of this article.

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.

Keywords

Trisomy 18
Cardiac abnormality
autopsy

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