title: First-trimester prenatal diagnosis of cystic fibrosis using fibroblasts from a deceased index child to establish haplotypes.
abstract: First-trimester prenatal diagnosis of cystic fibrosis (CF) using linked DNA markers is usually only possible if there is an index affected child to establish the haplotype of the parental chromosomes. We describe a prenatal diagnosis where fibroblasts, cultured from the skin of a deceased affected child and then held in frozen storage for 3 years, were used as the starting point for tracking the CF gene. The fetus was diagnosed as a homozygous normal and the diagnosis confirmed by immunoreactive trypsin testing after birth. It was also possible to establish heterozygosity in the aunt of the affected child.
authors.affiliation: Human Genetics Unit, University of Edinburgh, Western General Hospital, U.K.
authors.forename: A
authors.initials: A
authors.lastname: Curtis
authors.forename: L
authors.initials: L
authors.lastname: Strain
authors.forename: M
authors.initials: M
authors.lastname: Mennie
authors.forename: S
authors.initials: S
authors.lastname: Holloway
authors.forename: J A
authors.initials: JA
authors.lastname: Raeburn
authors.forename: G T
authors.initials: GT
authors.lastname: Besley
authors.forename: D J
authors.initials: DJ
authors.lastname: Brock
mesh_terms: D000328:Adult; D002478:Cells, Cultured; D003550:Cystic Fibrosis / Q000175:diagnosis* / Q000235:genetics; D015342:DNA Probes; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000235:genetics; D005347:Fibroblasts / Q000032:analysis; D006239:Haplotypes; D006801:Humans; D010375:Pedigree; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011296:Prenatal Diagnosis / Q000379:methods*
chemical_list: D015342:DNA Probes