Abstract
Cultured amniotic fluid cells were evaluated cytogenetically in 122 cases. Six cases (4.9%) showed abnormal karyotypes: one trisomy 21, two trisomy 18, two reciprocal translocation and one pseudomosaicism. In addition, we diagnosed aneuploidy for chromosomes 13, 18, 21, X and Y in uncultured amniotic fluid cells using interphase in fluorescence in situ hybridization (FISH) analysis. The same results were obtained in two analyses: conventional cultured method and interphase FISH. Interphase FISH analysis was acceptable for precise rapid preliminary diagnosis for chromosomal aneuploidy in direct amniocyte preparations. A dual-color FISH analysis was also performed in two reciprocal translocation carriers using chromosome-specific telomere probes. The results showed that the method was strongly reliable for rapid exclusion of chromosomally unbalanced segregations in the reciprocal translocation carriers.
