title: Detection of trisomy 18 and Y-derived sequences in fetal nucleated cells obtained by transcervical flushing.
abstract: A procedure which combines the collection of fetal cells by transcervical flushing and in situ hybridisation techniques on nuclei in interphase was used to detect trisomy 18 in a fetus at 12 weeks of gestation. Using a primed in situ labelling method, we could also detect Y-specific sequences in a small percentage of transcervically flushed cells obtained at 8-12 weeks from pregnant women with male fetuses. This approach seems to be suitable for prenatal diagnosis of major chromosomal abnormalities and other selected inherited disorders very early in gestation.
authors.affiliation: Division of Medical and Molecular Genetics, United Medical School, Guy's Hospital, London, UK.
authors.forename: M
authors.initials: M
authors.lastname: Adinolfi
authors.forename: A
authors.initials: A
authors.lastname: Davies
authors.forename: S
authors.initials: S
authors.lastname: Sharif
authors.forename: P
authors.initials: P
authors.lastname: Soothill
authors.forename: C
authors.initials: C
authors.lastname: Rodeck
mesh_terms: D000328:Adult; D002584:Cervix Uteri; D002869:Chromosome Aberrations / Q000175:diagnosis*; D025063:Chromosome Disorders; D002887:Chromosomes, Human, Pair 18; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis*; D006801:Humans; D017403:In Situ Hybridization; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D007507:Therapeutic Irrigation; D014314:Trisomy