title: Cascade testing for carrier status in cystic fibrosis in a large family.
abstract: The offer to determine carrier status for cystic fibrosis (CF) was made to the 230 descendants of a couple who were presumed to carry the delta F508 mutation. "Cascade testing" was employed, in which the mutation is followed from the oldest generation down. Compliance was over 75% and family members were relieved of the anxiety engendered by uncertainty. In one couple considering having a family, both partners were found to be carriers.
authors.affiliation: Department of Medical Genetics, Prince of Wales Children's Hospital, Randwick, NSW.
authors.forename: G
authors.initials: G
authors.lastname: Turner
authors.forename: W
authors.initials: W
authors.lastname: Meagher
authors.forename: C
authors.initials: C
authors.lastname: Willis
authors.forename: P
authors.initials: P
authors.lastname: Colley
mesh_terms: D000293:Adolescent; D000328:Adult; D002675:Child, Preschool; D003550:Cystic Fibrosis / Q000235:genetics* / Q000523:psychology; D005260:Female; D005500:Follow-Up Studies; D006580:Genetic Carrier Screening / Q000379:methods*; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010349:Patient Compliance; D010375:Pedigree