Preimplantation genetic diagnosis for inherited neurological disorders

NATURE REVIEWS NEUROLOGY(2014)

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摘要
Preimplantation genetic diagnosis (PGD) facilitates conception of a healthy child by couples at risk of having offspring with an inherited debilitating or fatal neurological disorder. PGD has been carried out for various conditions, including spinal muscular atrophy, Huntington disease, fragile X syndrome, and chromosomal and mitochondrial disorders. This article aims to assist neurologists in counselling and treatment of individuals who wish to explore the option of PGD, and advocates the formulation of guidelines for the responsible integration of PGD into preventative neurology.
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关键词
Neurological disorders, Genetic testing
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