PMID- 9160386 OWN - NLM STAT- MEDLINE DCOM- 19970716 LR - 20190905 IS - 0197-3851 (Print) IS - 0197-3851 (Linking) VI - 17 IP - 4 DP - 1997 Apr TI - Prenatal detection of chromosome aneuploidies by fluorescence in situ hybridization: experience with 2000 uncultured amniotic fluid samples in a prospective preclinical trial. PG - 333-41 AB - 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). FAU - Bryndorf, T AU - Bryndorf T AD - Chromosome Laboratory, Juliane Marie Center, Rigshospital, University of Copenhagen, Denmark. t-bryndorf@dk-online.dk FAU - Christensen, B AU - Christensen B FAU - Vad, M AU - Vad M FAU - Parner, J AU - Parner J FAU - Brocks, V AU - Brocks V FAU - Philip, J AU - Philip J LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - England TA - Prenat Diagn JT - Prenatal diagnosis JID - 8106540 SB - IM MH - Amniotic Fluid/*cytology MH - *Aneuploidy MH - Chromosomes, Human, Pair 13 MH - Chromosomes, Human, Pair 18 MH - Chromosomes, Human, Pair 21 MH - Female MH - Humans MH - *In Situ Hybridization, Fluorescence MH - Karyotyping MH - Pregnancy MH - *Prenatal Diagnosis MH - Prospective Studies MH - Sex Chromosomes EDAT- 1997/04/01 00:00 MHDA- 2000/06/20 09:00 CRDT- 1997/04/01 00:00 PHST- 1997/04/01 00:00 [pubmed] PHST- 2000/06/20 09:00 [medline] PHST- 1997/04/01 00:00 [entrez] AID - 10.1002/(SICI)1097-0223(199704)17:4<333::AID-PD76>3.0.CO;2-# [pii] AID - 10.1002/(sici)1097-0223(199704)17:4<333::aid-pd76>3.0.co;2-# [doi] PST - ppublish SO - Prenat Diagn. 1997 Apr;17(4):333-41. doi: 10.1002/(sici)1097-0223(199704)17:4<333::aid-pd76>3.0.co;2-#.