title: Prenatal diagnosis of cystic fibrosis in a Turkish family.
abstract: Prenatal diagnosis of cystic fibrosis (CF) was made in a Turkish family whose first born child was diagnosed at necropsy as having CF. Two consecutive pregnancies followed. The fetus of the second pregnancy was diagnosed as having CF by the microvillar enzyme assay and was aborted. The diagnosis was verified by the DNA polymerase chain reaction analysis using chorionic villi from the abortus. In the third pregnancy, amniocentesis was performed in the 17th week, and KM19 polymorphism linked to CF was used to assess the status of the fetus. Since the fetus was determined to be a carrier, the family was advised to continue with the pregnancy.
authors.affiliation: Department of Medical Biology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
authors.forename: E
authors.initials: E
authors.lastname: Yilmaz
authors.forename: M
authors.initials: M
authors.lastname: Ozgüç
authors.forename: T
authors.initials: T
authors.lastname: Coşkun
authors.forename: S
authors.initials: S
authors.lastname: Beksaç
authors.forename: N
authors.initials: N
authors.lastname: Cakar
authors.forename: S
authors.initials: S
authors.lastname: Ayter
authors.forename: I
authors.initials: I
authors.lastname: Ozalp
mesh_terms: D001483:Base Sequence; D003550:Cystic Fibrosis / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D011247:Pregnancy; D011296:Prenatal Diagnosis