Indian Journal of Obstetrics and Gynecology Research

Print ISSN: 2394-2746

Online ISSN: 2394-2754

CODEN : IJOGCS

Indian Journal of Obstetrics and Gynecology Research (IJOGR) open access, peer-reviewed quarterly journal publishing since 2014 and is published under auspices of the Innovative Education and Scientific Research Foundation (IESRF), aim to uplift researchers, scholars, academicians, and professionals in all academic and scientific disciplines. IESRF is dedicated to the transfer of technology and research by publishing scientific journals, research content, providing professional’s membership, and conducting conferences, seminars, and award more...

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Case Series


Article page

511- 517


Authors Details

Yogeshkumar Siddhyeshwar Chaudhary*, Sachin Shridhar Patil, Varun Ashok Thakur


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


Case Series

Author Details : Yogeshkumar Siddhyeshwar Chaudhary*, Sachin Shridhar Patil, Varun Ashok Thakur

Volume : 10, Issue : 4, Year : 2023

Article Page : 511-517

https://doi.org/10.18231/j.ijogr.2023.098



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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.
 

Keywords: Congenital heart disease, Genetic abnormalities, Prenatal, Cardiac genetic, Ultrasound.


How to cite : Chaudhary Y S, Patil S S, Thakur V A, Genetic abnormalities in sonographically detected heart diseases in antenatal period: A case series. Indian J Obstet Gynecol Res 2023;10(4):511-517

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