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DOI: 10.1007/s40556-016-0077-z
Duchenne Muscular Dystrophy (DMD): Pre-conceptional Counseling

Abstract
Duchenne muscular dystrophy (DMD) is a common X-linked recessive disorder, which is caused by deletion, duplication, or point mutations of the dystrophin gene. This article discusses genetic counseling and prenatal diagnosis in DMD and highlights the need for confirmation of diagnosis by molecular studies in the index case for future prenatal diagnosis. It also addresses how the family can be provided prenatal diagnosis, if the patient is deceased. These principles are illustrated by four case scenarios.
Keywords
Duchenne muscular dystrophy - Deletion - Duplication - Prenatal diagnosis - Creatine kinase - MLPAPublication History
Received: 23 November 2015
Accepted: 08 February 2016
Article published online:
08 May 2023
© 2016. Society of Fetal Medicine. 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/)
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