Preimplantation genetic diagnosis for inherited neurological disorders

Ilan Tur-Kaspa, Roohi Jeelani, P. Murali Doraiswamy

Research output: Contribution to journalReview articlepeer-review

18 Scopus citations

Abstract

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.

Original languageEnglish
Pages (from-to)417-424
Number of pages8
JournalNature Reviews Neurology
Volume10
Issue number7
DOIs
StatePublished - 1 Jan 2014
Externally publishedYes

ASJC Scopus subject areas

  • Clinical Neurology
  • Cellular and Molecular Neuroscience

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