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First pregnancy and life after preimplantation genetic diagnosis by polar body analysis for mucopolysaccharidosis type I.

Abstract：

:Preimplantation genetic diagnosis (PGD) may help couples at risk to avoid pregnancies with known genetic diseases. In Germany, the only option to perform PGD is the analysis of polar bodies (PB). Mucopolysaccharidosis type I (MPS I) is an autosomal recessive lysosomal storage disorder. Q70X is one of the frequent diseases causing mutations of alpha-L-iduronidase (IDUA), leading to a severe phenotype with mental retardation and various somatic abnormalities, and making a request for PGD is understandable. Using five polymorphic DNA markers from the vicinity of IDUA, PGD on first PB was performed for a consanguineous couple, both heterozygotes of the Q70X mutation of IDUA. Sixteen first PB were obtained by laser assisted hatching of the zona pellucida. Genotyping led to the conclusion that 3/16 oocytes carried wild-type IDUA alleles. Only one of these oocytes showed pronucleus formation after intracytoplasmic sperm injection and was transferred on day 2 after oocyte retrieval. A singleton pregnancy was established. Prenatal diagnosis showed a fetus heterozygous for Q70X. For MPS I, PB analysis is a feasible way to perform PGD and it may be an acceptable alternative for couples with moral objections to embryo selection, or for countries in which genetic testing of the embryo is prohibited.

journal_name

Reprod Biomed Online

journal_title

Reproductive biomedicine online

authors

Tomi D,Schultze-Mosgau A,Eckhold J,Schopper B,Al-Hasani S,Steglich C,Gal A,Axt-Fliedner R,Schwinger E,Diedrich K,Griesinger G

doi

10.1016/s1472-6483(10)60864-4

keywords:

subject

Has Abstract

pub_date

2006-02-01 00:00:00

pages

215-20

issue

2

eissn

1472-6483

issn

1472-6491

pii

S1472-6483(10)60864-4

journal_volume

12

pub_type

杂志文章

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