title: First-trimester prenatal diagnosis of cystic fibrosis with linked DNA probes.
abstract: Linkage analysis with cloned gene probes has shown that the mutation causing cystic fibrosis is located in the middle of the long arm of chromosome 7. First-trimester diagnosis of cystic fibrosis is reported in four informative families and second-trimester diagnosis in one family with fetal DNA prepared from chorionic villi, hybridised with the tightly linked DNA probes, pJ3.11 and met. Risk calculations show that the expected false-negative and false-positive rates are approximately 2% and 6%, respectively, for typical nuclear families with one affected living child. Existing probes are sufficiently informative to allow full diagnosis in about two-thirds of couples presenting with at least one affected child. In half of the remainder, the inheritance of one parental mutant chromosome can be deduced.
authors.forename: M
authors.initials: M
authors.lastname: Farrall
authors.forename: H Y
authors.initials: HY
authors.lastname: Law
authors.forename: C H
authors.initials: CH
authors.lastname: Rodeck
authors.forename: R
authors.initials: R
authors.lastname: Warren
authors.forename: P
authors.initials: P
authors.lastname: Stanier
authors.forename: M
authors.initials: M
authors.lastname: Super
authors.forename: W
authors.initials: W
authors.lastname: Lissens
authors.forename: P
authors.initials: P
authors.lastname: Scambler
authors.forename: E
authors.initials: E
authors.lastname: Watson
authors.forename: B
authors.initials: B
authors.lastname: Wainwright
mesh_terms: D001706:Biopsy; D002824:Chorionic Villi / Q000473:pathology; D003550:Cystic Fibrosis / Q000175:diagnosis* / Q000235:genetics; D004247:DNA / Q000235:genetics*; D005188:False Negative Reactions; D005189:False Positive Reactions; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D005838:Genotype; D006801:Humans; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011296:Prenatal Diagnosis
chemical_list: D005819:Genetic Markers; D004247:DNA