An attractive alternative to prenatal diagnosis: a case report of preimplantation genetic testing in familial cardiomyopathy

An attractive alternative to prenatal diagnosis: a case report of preimplantation genetic testing in familial cardiomyopathy

Familial hypertrophic cardiomyopathy is an autosomal dominant familial inherited heart disease caused by mutations in the sarcomere protein that affects nearly 1 in 500 people. Genetic testing is of immense importance for familial inherited diseases. This study aimed to determine a way to allow coup...

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Bibliographic Details
Main Authors: Shubhra Pandey, MBBS, DGO, FRM, Parth Khandhedia, MBBS, DGO
Format: Article
Language:English
Published: Elsevier 2025-05-01
Series:AJOG Global Reports
Subjects:
familial hypertrophic cardiomyopathy
preimplantation genetic testing
familial disorders
healthy child
preimplantation genetic testing for monogenic disorders
Online Access:http://www.sciencedirect.com/science/article/pii/S2666577825000371
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