Article
Preimplantation genetic diagnosis for mitochondrial DNA mutations: analysis of one blastomere suffices.
Journal of medical genetics - 1 Oct 2017
Sallevelt Suzanne C E H, Dreesen Joseph C F M, Coonen Edith, Paulussen Aimee D C, Hellebrekers Debby M E I, de Die-Smulders Christine E M, Smeets Hubert J M, Lindsey Patrick
Abstract excerpt
BACKGROUND: Preimplantation genetic diagnosis (PGD) is a reproductive strategy for mitochondrial DNA (mtDNA) mutation carriers, strongly reducing their risk of affected offspring. Embryos either without the mutation or with mutation load below the phenotypic threshold are transferred to the uterus. Because of incidental heteroplasmy deviations in single blastomere and the relatively limited data available, we so...
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