Clinical application of preimplantation genetic diagnosis for cystic fibrosis.
Cystic fibrosis (CF) is an autosomal recessive disease characterized by obstruction and chronic infections of the respiratory tract and pancreatic insufficiency. The gene was cloned in 1989 and the most frequent mutation was shown to be the delta F508 mutation. During PGD, embryos obtained in vitro are checked for the presence or absence of the mutation, after which only embryos shown to be free of the mutation are returned to the mother. Up to 1999, 48 intracytoplasmic sperm injection (ICSI) and in vitro fertilization (IVF) cycles had been carried out for PGD for CF in 24 couples, and different diagnostic tests had been used to select non-affected embryos. Thirteen patients became pregnant and 12 healthy babies have been born.
Goossens
V
V
Centre for Medical Genetics, University Hospital and Medical School, Brussels Free University, Laarbeeklaan 101, 1090 Brussels, Belgium.
Sermon
K
K
Lissens
W
W
Vandervorst
M
M
Vanderfaeillie
A
A
De Rijcke
M
M
De Vos
A
A
Henderix
P
P
Van De Velde
H
H
Van Steirteghem
A
A
Liebaers
I
I
D000328:Adult; D001723:Birth Rate; D002472:Cell Transformation, Viral; D002478:Cells, Cultured; D003550:Cystic Fibrosis / Q000175:diagnosis* / Q000235:genetics*; D004247:DNA / Q000032:analysis; D017931:DNA Primers / Q000737:chemistry; D047108:Embryonic Development; D005260:Female; D005307:Fertilization in Vitro; D006579:Heterozygote; D006801:Humans; D008214:Lymphocytes / Q000166:cytology; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011256:Pregnancy Outcome; D019836:Preimplantation Diagnosis; D020554:Sperm Injections, Intracytoplasmic
D017931:DNA Primers; D004247:DNA