title: [Screening for carriers of cystic fibrosis. Result of a pilot study among pregnant women].
abstract: Total prevention of cystic fibrosis (CF) is possible if all carrier women are found before pregnancy or early enough during pregnancy so that prenatal diagnosis can be offered. The delta 508 allele constitutes almost 90% of the mutations causing CF in the Danish population. We have examined 6599 pregnant women and found 172 carriers of delta F508. Partners of carrier women were examined for delta F508 and five other mutations. Three couples at risk and one foetus with CF were identified. Giving information to couples before and after testing is time consuming. A comprehensive questionnaire was sent to 200 non-carriers and all 172 carriers (response rate 72%). It can be concluded that the project has been very well accepted. However, the majority of carriers were shocked or very worried when they had the test result. Based on this pilot study we recommend nationwide screening for delta F508 early in pregnancy.
authors.affiliation: Afsnit for klinisk genetik, Rigshospitalet, København.
authors.forename: N J
authors.initials: NJ
authors.lastname: Brandt
authors.forename: M
authors.initials: M
authors.lastname: Schwartz
authors.forename: F
authors.initials: F
authors.lastname: Skovby
mesh_terms: D003550:Cystic Fibrosis / Q000175:diagnosis / Q000235:genetics* / Q000517:prevention & control; D003718:Denmark; D005260:Female; D005820:Genetic Testing; D006801:Humans; D008297:Male; D010865:Pilot Projects; D011247:Pregnancy; D011248:Pregnancy Complications / Q000175:diagnosis*; D011296:Prenatal Diagnosis; D012307:Risk Factors; D011795:Surveys and Questionnaires
vernacular_title: Anlaegsbaererscreening for cystisk fibrose. Resultatet of en pilotundersøgelse blandt gravide.