title: Rapid prenatal diagnosis of aneuploidy using quantitative fluorescence-PCR (QF-PCR).
abstract: Molecular cytogenetic aneuploidy testing for pregnant women at increased risk of chromosome abnormality leads to rapid reassurance for those with normal results and earlier decisions on pregnancy management in the case of abnormality. We tested 9080 prenatal samples using a one-tube QF-PCR test for trisomies 13, 18, and 21; the abnormality rate was 5.9%. There were no misdiagnoses for non-mosaic trisomy. A sex chromosome multiplex was developed that detects structural sex chromosome abnormalities as well as aneuploidies. The sex chromosome test was targeted at pregnancies (272) with specific abnormalities suggestive of Turner syndrome; 13.2% showed 45,X, confirmed by follow-up analysis.
authors.affiliation: Cytogenetics Department, 5th Floor, Guy's Tower, St Thomas Street, London SE1 9RT, UK. caroline.ogilvie@genetics.kcl.ac.uk
authors.forename: Caroline Mackie
authors.initials: CM
authors.lastname: Ogilvie
authors.forename: Celia
authors.initials: C
authors.lastname: Donaghue
authors.forename: Susan P
authors.initials: SP
authors.lastname: Fox
authors.forename: Zoe
authors.initials: Z
authors.lastname: Docherty
authors.forename: Kathy
authors.initials: K
authors.lastname: Mann
mesh_terms: D000782:Aneuploidy; D002882:Chromosomes, Human, Pair 13; D002887:Chromosomes, Human, Pair 18; D002891:Chromosomes, Human, Pair 21; D041321:Chromosomes, Human, X; D041322:Chromosomes, Human, Y; D004314:Down Syndrome / Q000175:diagnosis; D005260:Female; D005453:Fluorescence; D006801:Humans; D016133:Polymerase Chain Reaction / Q000379:methods; D011296:Prenatal Diagnosis / Q000379:methods*; D012729:Sex Chromosome Aberrations; D014314:Trisomy