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December 21, 1994

Birth After Preimplantation Diagnosis of the Cystic Fibrosis △F508 Mutation by Polymerase Chain Reaction in Human Embryos Resulting From Intracytoplasmic Sperm Injection With Epididymal Sperm

Author Affiliations

From the Center for Reproductive Medicine (Drs Liu, Devroey, and Van Steirteghem) and the Department of Medical Genetics (Drs Lissens and Liebaers), University Hospital, Dutch-Speaking Brussels Free University (Vrije Universiteit Brussel), Brussels, Belgium; and Department of Urology and Microsurgery, St. Luke's Hospital, St Louis, Mo (Dr Silber).

JAMA. 1994;272(23):1858-1860. doi:10.1001/jama.1994.03520230068040

Men with congenital bilateral absence of the vas deferens (CBAVD) have been regarded as presenting a mild form of cystic fibrosis (CF). In this article, we report a case of male-factor infertility, in which both partners are carriers of the △F508 mutation and the male partner has CBAVD. Microsurgical epididymal sperm aspiration (MESA) was performed to obtain spermatozoa; intracytoplasmic sperm injection (ICSI) was carried out on the oocytes since the motility of the spermatozoa was severely impaired; and embryo biopsy and a polymerase chain reaction (PCR) were carried out for preimplantation diagnosis of the CF △F508 mutation. Single-blastomere analysis was performed and indicated that two embryos were affected (homozygous △F508) and three embryos were carriers. After transfer of the latter three embryos, a singleton pregnancy was established. At amniocentesis, the △F508 carrier status of the fetus with a 46, XY karyotype was confirmed. A healthy boy was born and the presence of vasa deferentia, bilaterally, was confirmed. The CF sweat test was also normal. Successful fertilization can be obtained by combination of MESA and ICSI in patients with CBAVD. Preimplantation diagnosis of CF is indicated. Pregnancy and birth of normal children can ensue in such patients.

(JAMA. 1994;272:1858-1860)