Identification of aneuploids in uncultured amniotic fluid cells by interphase fluorescence in situ hybridization]

We report the diagnosis of aneuploids in uncultured amniotic fluid cells by the use of interphase fluorescence in situ hybridization (FISH). About a dozen of cases was studied to detect chromosome aneuploids (trisomies 13, 18 and 21, and monosomy X), especially those in the perinatal period. Results of FISH experiments in each specimen were compared with those of conventional chromosome analysis, and showed no discrepancy between them in most cases. FISH analysis revealed that four 18-trisomies had two different cells, one of which showed two fluorescence signals and the other three signals, the result indicating a maternal cell contamination. Thus, special attention should be paid when FISH analysis is adopted to the diagnosis in uncultured amniotic fluid cells in order to avoid misdiagnosis that may originate in maternal cell contamination.