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CC BY-NC-ND 4.0 · Journal of Fetal Medicine 2016; 03(01): 19-24
DOI: 10.1007/s40556-016-0077-z
Genetics in Fetal Medicine

Duchenne Muscular Dystrophy (DMD): Pre-conceptional Counseling

Sheela Nampoothiri
1   Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Center, Aims Ponekkara PO, 682041, Cochin, Kerala, India
,
Dhanya Yesodharan
1   Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Center, Aims Ponekkara PO, 682041, Cochin, Kerala, India
,
Radhika P. Ramachandran
2   CSIR—Centre for Cellular and Molecular Biology (CCMB), Hyderabad, India
,
Leturcq France
3   Laboratoire de génétique moléculaire, Hopital Cochin, Bâtiment Jean Dausset 3ème étage, 27 Rue du Fg St Jacques, 75014, Paris, France
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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 - MLPA


Publikationsverlauf

Eingereicht: 23. November 2015

Angenommen: 08. Februar 2016

Artikel online veröffentlicht:
08. Mai 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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