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Nat Rev Neurol. 2014 Jul;10(7):417-24. doi: 10.1038/nrneurol.2014.84. Epub 2014 May 27.

Preimplantation genetic diagnosis for inherited neurological disorders.

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Institute for Human Reproduction, 409 West Huron Street, Suite 500, Chicago, IL 60654, USA, and Department of Obstetrics and Gynecology, The University of Chicago, Chicago, IL 60637, USA.
Department of Obstetrics and Gynecology, Wayne State University, 3390 John R. Street, Detroit, MI 48201, USA.
Departments of Psychiatry and Medicine, and the Duke Institute for Brain Sciences, DUMC-3018 Duke Medical Center, 1000 Trent Drive, Suite 3550, Durham, NC 27710, USA.


Preimplantation genetic diagnosis (PGD) is an option for couples at risk of having offspring with an inherited debilitating or fatal neurological disorder who wish to conceive a healthy child. PGD has been carried out for conditions with various modes of inheritance, including spinal muscular atrophy, Huntington disease, fragile X syndrome, and chromosomal or mitochondrial disorders, and for susceptibility genes for cancers with nervous system involvement. Most couples at risk of transmitting a genetic mutation would opt for PGD over prenatal testing and possible termination of a pregnancy. The aim of this Perspectives article is to assist neurologists in counselling and treating patients who wish to explore the option of PGD to enable conception of an unaffected child. PGD can be accomplished for most disorders in which the genetic basis is known, and we argue that it is time for clinicians and neurological societies to consider the evidence and to formulate guidelines for the responsible integration of PGD into modern preventative neurology.

[Indexed for MEDLINE]

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