Normal pregnancy after preimplantation DNA diagnosis of a dystrophin gene deletion

• Published in: Prenatal diagnosis Vol. 15; no. 4; p. 351
• Main Authors: Liu, J, Lissens, W, Van Broeckhoven, C, Löfgren, A, Camus, M, Liebaers, I, Van Steirteghem, A
• Format: Journal Article
• Language: English
• Published: England 01-04-1995
• Subjects: Adult; Base Sequence; Blastomeres; DNA Mutational Analysis; Dystrophin - genetics; Embryonic Development; Female; Fertilization in Vitro; Gene Deletion; Genetic Carrier Screening - methods; Humans; Molecular Sequence Data; Muscular Dystrophies - diagnosis; Pedigree; Polymerase Chain Reaction; Polymorphism, Genetic; Pregnancy; Pregnancy Outcome; Prenatal Diagnosis - methods; Sex Determination Analysis
• ISSN: 0197-3851
• DOI: 10.1002/pd.1970150409

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.