title: Fluorescence in situ hybridization with a chromosome 21-specific cosmid contig: 1-day detection of trisomy 21 in uncultured mesenchymal chorionic villus cells.
abstract: We present a modified, fast trisomy 21 detection assay using fluorescence in situ hybridization (FISH) on uncultured mesenchymal chorionic villus cells. The whole test takes about 24 h. We used a cosmid contig as a probe and modified an in situ sample preparation method first described by Klinger et al. (1992). The assays saves time and cost of culture in comparison with a previously described trisomy 21 detection FISH assay (Bryndorf et al., 1993). A small blind clinical study comparing the modified and the previously described FISH assays using mesenchymal chorionic villus cells showed comparable results and concordance with conventional cytogenetic analysis. The frequency of nuclei with three hybridization signals from samples disomic for chromosome 21 ranged from 0 to 8 per cent with both assays, while trisomic samples had 60-80 and 54-90 per cent of the mesenchymal nuclei with three signals in the modified and previously described assays, respectively. Normal (disomic) and trisomic mesenchymal chorionic villus samples can be distinguished clearly and rapidly without culture in the modified assay.
authors.affiliation: Department of Obstetrics and Gynaecology, Rigshospitalet, Copenhagen, Denmark.
authors.forename: T
authors.initials: T
authors.lastname: Bryndorf
authors.forename: B
authors.initials: B
authors.lastname: Christensen
authors.forename: Y
authors.initials: Y
authors.lastname: Xiang
authors.forename: J
authors.initials: J
authors.lastname: Philip
authors.forename: K
authors.initials: K
authors.lastname: Yokobata
authors.forename: N
authors.initials: N
authors.lastname: Bui
authors.forename: C
authors.initials: C
authors.lastname: Gaiser
mesh_terms: D001483:Base Sequence; D015193:Chorionic Villi Sampling; D002891:Chromosomes, Human, Pair 21; D003360:Cosmids; D015342:DNA Probes; D004314:Down Syndrome / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008969:Molecular Sequence Data; D011247:Pregnancy
chemical_list: D015342:DNA Probes