PMID- 11241529 OWN - NLM STAT- MEDLINE DCOM- 20010621 LR - 20190906 IS - 0197-3851 (Print) IS - 0197-3851 (Linking) VI - 21 IP - 2 DP - 2001 Feb TI - Follow-up investigations in uncultured amniotic fluid cells after uncertain cytogenetic results. PG - 75-80 AB - Fluorescence in situ hybridization (FISH) on uncultured amniotic fluid (AF) cells is a widespread technique for the rapid prenatal detection of specific chromosome aberrations. During a 6-year period (1993-1998) we used FISH for quick follow-up investigations in uncultured AF cells after finding an uncertain chromosome aberration in a first chorionic villus (CV) or AF sample in 79 cases. These FISH results were compared with conventional cytogenetic results of the AF cell cultures in all cases. We found discrepant FISH and cytogenetic results in four instances. In general, FISH on uncultured AF cells proved to be a reliable technique for the rapid differentiation between confined placental mosaicism and true fetal mosaicism, and between pseudomosaicism and true mosaicism, respectively. Uncultured cells may sometimes even better reflect chromosomal mosaicism than cultured cells, since they are not subject to culture induced selection mechanisms. However, we found evidence that exceptional cases of tissue confined mosaicism may go undetected in uncultured cells. CI - Copyright 2001 John Wiley & Sons, Ltd. FAU - Van Opstal, D AU - Van Opstal D AD - Department of Clinical Genetics, University Hospital Dijkzigt, Erasmus University, Rotterdam, The Netherlands. VANOPSTAL@KGEN.FGG.EUR.NL FAU - van den Berg, C AU - van den Berg C FAU - Galjaard, R J AU - Galjaard RJ FAU - Los, F J AU - Los FJ LA - eng PT - Comparative Study PT - Journal Article PL - England TA - Prenat Diagn JT - Prenatal diagnosis JID - 8106540 SB - IM MH - Amniocentesis MH - Amniotic Fluid/*cytology MH - Chorionic Villi Sampling MH - *Chromosome Aberrations MH - Cytogenetic Analysis MH - Female MH - Humans MH - In Situ Hybridization, Fluorescence MH - Mosaicism MH - Placenta/ultrastructure MH - Pregnancy MH - *Prenatal Diagnosis MH - Trisomy EDAT- 2001/03/10 10:00 MHDA- 2001/06/22 10:01 CRDT- 2001/03/10 10:00 PHST- 2001/03/10 10:00 [pubmed] PHST- 2001/06/22 10:01 [medline] PHST- 2001/03/10 10:00 [entrez] AID - 10.1002/1097-0223(200102)21:2<75::AID-PD990>3.0.CO;2-B [pii] AID - 10.1002/1097-0223(200102)21:2<75::aid-pd990>3.3.co;2-2 [doi] PST - ppublish SO - Prenat Diagn. 2001 Feb;21(2):75-80. doi: 10.1002/1097-0223(200102)21:2<75::aid-pd990>3.3.co;2-2.