Birth after preimplantation diagnosis of the cystic fibrosis delta F508 mutation by polymerase chain reaction in human embryos resulting from intracytoplasmic sperm injection with epididymal sperm

JAMA. 1994 Dec 21;272(23):1858-60.


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 delta 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 delta F508 mutation. Single-blastomere analysis was performed and indicated that two embryos were affected (homozygous delta F508) and three embryos were carriers. After transfer of the latter three embryos, a singleton pregnancy was established. At amniocentesis, the delta 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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Cystic Fibrosis / diagnosis*
  • Cystic Fibrosis / genetics
  • Embryo, Mammalian
  • Epididymis / surgery
  • Female
  • Fertilization in Vitro
  • Humans
  • Infant, Newborn
  • Insemination, Artificial, Homologous / methods*
  • Male
  • Microsurgery
  • Mutation*
  • Polymerase Chain Reaction
  • Prenatal Diagnosis* / methods
  • Spermatozoa
  • Suction
  • Vas Deferens / abnormalities