First pregnancy and life after preimplantation genetic diagnosis by polar body analysis for mucopolysaccharidosis type I.
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First pregnancy and life after preimplantation genetic diagnosis by polar body analysis for mucopolysaccharidosis type I. / Tomi, Diana; Schultze-Mosgau, Askan; Eckhold, Juliane; Schopper, Beate; Al-Hasani, Safaa; Steglich, Cordula; Gal, Andreas; Axt-Fliedner, Roland; Schwinger, Eberhard; Diedrich, Klaus; Griesinger, Georg.
in: REPROD BIOMED ONLINE, Jahrgang 12, Nr. 2, 2, 2006, S. 215-220.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung
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TY - JOUR
T1 - First pregnancy and life after preimplantation genetic diagnosis by polar body analysis for mucopolysaccharidosis type I.
AU - Tomi, Diana
AU - Schultze-Mosgau, Askan
AU - Eckhold, Juliane
AU - Schopper, Beate
AU - Al-Hasani, Safaa
AU - Steglich, Cordula
AU - Gal, Andreas
AU - Axt-Fliedner, Roland
AU - Schwinger, Eberhard
AU - Diedrich, Klaus
AU - Griesinger, Georg
PY - 2006
Y1 - 2006
N2 - 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.
AB - 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.
M3 - SCORING: Zeitschriftenaufsatz
VL - 12
SP - 215
EP - 220
JO - REPROD BIOMED ONLINE
JF - REPROD BIOMED ONLINE
SN - 1472-6483
IS - 2
M1 - 2
ER -
