PMID- 7739991 OWN - NLM STAT- MEDLINE DCOM- 19950602 LR - 20190904 IS - 0197-3851 (Print) IS - 0197-3851 (Linking) VI - 15 IP - 1 DP - 1995 Jan TI - Rapid prenatal diagnosis of 14 cases of triploidy using fish with multiple probes. PG - 1-5 AB - Fluorescence in situ hybridization (FISH) of chromosome-specific probes to interphase nuclei can rapidly identify aneuploidies in uncultured amniotic fluid cells. Using DNA probe sets specific for chromosomes 13, 18, 21, X, and Y, we have identified 14 fetuses where the hybridization pattern was consistent with a triploid chromosome constitution. In each case, the identification of fetal abnormalities by ultrasound examination initiated a request for rapid determination of ploidy status via prenatal FISH analysis of uncultured amniocytes. FISH produced a three-signal pattern for the three autosomes in combination with signals indicating an XXX or XXY sex chromosome complement. This hybridization pattern was interpreted to be consistent with triploidy. Results were reported to the physician within 2 days of amniocentesis and subsequently confirmed by cytogenetics. These cases demonstrate the utility of FISH for rapid prenatal identification of triploidy, particularly when fetal abnormalities are seen with ultrasonographic examination. FAU - Gersen, S L AU - Gersen SL AD - Integrated Genetics, Framingham, Massachusetts, USA. FAU - Carelli, M P AU - Carelli MP FAU - Klinger, K W AU - Klinger KW FAU - Ward, B E AU - Ward BE LA - eng PT - Journal Article PL - England TA - Prenat Diagn JT - Prenatal diagnosis JID - 8106540 RN - 0 (DNA Probes) SB - IM MH - Amniocentesis MH - *Chromosome Aberrations MH - *DNA Probes MH - Female MH - Humans MH - *In Situ Hybridization, Fluorescence MH - Pregnancy MH - Prenatal Diagnosis/*methods MH - Sex Chromosome Aberrations MH - Time Factors EDAT- 1995/01/01 00:00 MHDA- 1995/01/01 00:01 CRDT- 1995/01/01 00:00 PHST- 1995/01/01 00:00 [pubmed] PHST- 1995/01/01 00:01 [medline] PHST- 1995/01/01 00:00 [entrez] AID - 10.1002/pd.1970150102 [doi] PST - ppublish SO - Prenat Diagn. 1995 Jan;15(1):1-5. doi: 10.1002/pd.1970150102.