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Duchenne Muscular Dystrophy (DMD): Pre-conceptional Counseling

  • Genetics in Fetal Medicine
  • Published:
Journal of Fetal Medicine

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.

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Acknowledgments

I thank Dr. G R Chandak from Centre for Cellular and Molecular Biology (CCMB), Hyderabad for providing the figures of MLPA.

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Authors and Affiliations

  1. Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Center, Aims Ponekkara PO, Cochin, Kerala, 682041, India

    Sheela Nampoothiri & Dhanya Yesodharan

  2. CSIR—Centre for Cellular and Molecular Biology (CCMB), Hyderabad, India

    Radhika P. Ramachandran

Authors
  1. Sheela Nampoothiri
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  2. Dhanya Yesodharan
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  3. Radhika P. Ramachandran
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Leturcq France

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Correspondence to Sheela Nampoothiri.

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Nampoothiri, S., Yesodharan, D., Ramachandran, R.P. et al. Duchenne Muscular Dystrophy (DMD): Pre-conceptional Counseling. J. Fetal Med. 3, 19–24 (2016). https://doi.org/10.1007/s40556-016-0077-z

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  • DOI: https://doi.org/10.1007/s40556-016-0077-z

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