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Normal pregnancy after preimplantation DNA diagnosis of a dystrophin gene deletion
Author(s) -
Liu Jiaen,
Lissens Willy,
Van Broeckhoven Christine,
Löfgren Ann,
Camus Michel,
Liebaers Ingeborg,
Van Steirteghem André
Publication year - 1995
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970150409
Subject(s) - duchenne muscular dystrophy , embryo , biology , preimplantation genetic diagnosis , blastomere , dystrophin , intracytoplasmic sperm injection , exon , andrology , polymerase chain reaction , microbiology and biotechnology , prenatal diagnosis , genetics , sexing , fetus , gene , pregnancy , medicine , embryogenesis , in vitro fertilisation
To perform preimplantation DNA diagnosis for Duchenne muscular dystrophy (DMD) in a female carrier of a dystrophin gene deletion of exons 3–18, we developed a polymerase chain reaction (PCR)‐based assay of exon 17 sequences. Exon 17 was efficiently amplified in all 50 single blastomeres of normal control embryos and in five blastomeres of one male embryo of the DMD carrier obtained after a first preimplantation diagnosis (PID) for gender determination. In ten blastomeres of another two male embryos of the DMD carrier, no PCR signals were observed, probably as a result of the deletion. After intracytoplasmic sperm injection, embryos were analysed for exon 17 and three of the four embryos showing normal PCR signals were replaced, resulting in a singleton pregnancy. Prenatal diagnosis showed a female karyotype and DNA analysis indicated that the fetus was not a DMD carrier.