title: Early prenatal direct gene diagnosis of cystic fibrosis in a twin pregnancy and subsequent selective termination.
abstract: We present a case of prenatal diagnosis of cystic fibrosis (CF) in one twin at 11-12 weeks of gestation. The parents had previously had two children, one of whom is alive and healthy and one who died of CF at the age of 2 1/2 months. The parents were both known to be carriers of the delta F508 mutation. Chorionic villus sampling (CVS) was performed and direct gene analysis showed that one fetus was homozygous for the delta F508 mutation, while the other fetus did not have the mutation at all. Both fetuses had normal karyotypes. Selective termination was subsequently performed. The pregnancy continued without complications except for mild pre-eclampsia at term. The woman had a Caesarean section. The genetic diagnosis was confirmed after birth.
authors.affiliation: Department of Obstetrics and Gynecology, Rigshospitalet, University of Copenhagen, Denmark.
authors.forename: F S
authors.initials: FS
authors.lastname: Jørgensen
authors.forename: J
authors.initials: J
authors.lastname: Bang
authors.forename: L
authors.initials: L
authors.lastname: Tranebjaerg
authors.forename: L N
authors.initials: LN
authors.lastname: Berge
authors.forename: S H
authors.initials: SH
authors.lastname: Eik-Nes
authors.forename: M
authors.initials: M
authors.lastname: Schwartz
mesh_terms: D000028:Abortion, Induced; D000328:Adult; D015193:Chorionic Villi Sampling; D003550:Cystic Fibrosis / Q000175:diagnosis* / Q000235:genetics; D004247:DNA / Q000032:analysis; D004200:Diseases in Twins; D005260:Female; D006801:Humans; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011247:Pregnancy
chemical_list: D004247:DNA