title: Screening for carriers of cystic fibrosis among pregnant women: a pilot study.
abstract: Cystic fibrosis (CF) is one of the most common hereditary disorders among Caucasians. In such populations a highly prevalent mutation causing CF, delta F508, has been identified. It comprises 88% of Danish CF mutations. This mutation and five others account for 90% of all CF mutations, making carrier screening on a population basis worthy of consideration. We have therefore performed a pilot screening programme for CF carriers among pregnant women. From June 1, 1990, for the following 2 years, 6,599 women were tested: 172 were heterozygous for delta F508. Three of 162 partners tested were also heterozygous for delta F508. After genetic counselling all three couples at risk for having a child with CF requested prenatal diagnosis. One fetus was homozygous for delta F508, and the pregnancy was terminated. With currently available techniques, the screening programme presented here causes no practical problems, and screening for CF carriers can easily be run on a larger scale.
authors.affiliation: Department of Pediatrics, Rigshospitalet Copenhagen, Denmark.
authors.forename: M
authors.initials: M
authors.lastname: Schwartz
authors.forename: N J
authors.initials: NJ
authors.lastname: Brandt
authors.forename: F
authors.initials: F
authors.lastname: Skovby
mesh_terms: D000293:Adolescent; D000328:Adult; D003550:Cystic Fibrosis / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D004252:DNA Mutational Analysis; D003718:Denmark / Q000453:epidemiology; D005260:Female; D005787:Gene Frequency; D006580:Genetic Carrier Screening; D005820:Genetic Testing / Q000191:economics / Q000379:methods*; D006801:Humans; D008297:Male; D008423:Maternal Age; D008875:Middle Aged; D017720:Molecular Epidemiology; D010865:Pilot Projects; D011237:Predictive Value of Tests; D011247:Pregnancy; D018566:Pregnancy, High-Risk; D012307:Risk Factors; D012680:Sensitivity and Specificity