title: Prenatal detection of chromosome aneuploidies by fluorescence in situ hybridization: experience with 2000 uncultured amniotic fluid samples in a prospective preclinical trial.
abstract: Successful rapid prenatal detection of selected numerical chromosome abnormalities by using fluorescence in situ hybridization (FISH) on uncultured amniotic fluid samples has been described by Klinger et al. (1992) and Ward et al. (1993, 1997). Using essentially the same FISH protocol and identical probes specific for chromosomes 21, 18, 13, X, and Y, we prospectively compared the results of FISH and conventional cytogenetics on 2000 amniotic fluid cell samples. The 1-day FISH assay yielded discrete differences in the signal profiles between cytogenetically disomic, i.e., normal, and trisomic samples. Due to intermittent absent Y-signals, the assay differentiated less well between samples with cytogenetically normal and abnormal sex chromosome complements. The assay efficiency, and thus the clinical utility, was affected by (1) unsuccessful hybridizations (7 per cent of all hybridizations), (2) hybridizations with less than 50 scorable nuclei (19 per cent of all hybridizations), and (3) visibly contaminated samples with possible maternal cell contamination (14 per cent of all samples). As a result, we were not able to reproduce the results of Klinger et al. (1992) and Ward et al. (1993, 1997).
authors.affiliation: Chromosome Laboratory, Juliane Marie Center, Rigshospital, University of Copenhagen, Denmark. t-bryndorf@dk-online.dk
authors.forename: T
authors.initials: T
authors.lastname: Bryndorf
authors.forename: B
authors.initials: B
authors.lastname: Christensen
authors.forename: M
authors.initials: M
authors.lastname: Vad
authors.forename: J
authors.initials: J
authors.lastname: Parner
authors.forename: V
authors.initials: V
authors.lastname: Brocks
authors.forename: J
authors.initials: J
authors.lastname: Philip
mesh_terms: D000653:Amniotic Fluid / Q000166:cytology*; D000782:Aneuploidy; D002882:Chromosomes, Human, Pair 13; D002887:Chromosomes, Human, Pair 18; D002891:Chromosomes, Human, Pair 21; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011446:Prospective Studies; D012730:Sex Chromosomes