Application of the fluorescent in situ hybridization on the prenatal diagnosis of the fetal aneuploidy in the uncultured amniocytes

OBJECTIVE: To study the method and value of fluorescent in situ hybridization (FISH) on the rapid prenatal diagnosis of the fetal aneuploidy in the uncultured amniocytes. METHODS: Amniocentesis was performed in 20 pregnant women of 16-36 gestational weeks with indications of prenatal diagnosis. We performed FISH, respectively, with the biotin labelled chromosome X and 18 centromeric probes and the digoxin labelled chromosome Y centromeric and 21q11 and 13q14-q21 specific probes on the uncultured amniocytes. The slides were observed under the fluorescent microscope and the images were captured by the Applied Imaging System. RESULTS: Normal chromosome number was observed in 19 cases: 10 cases of 46, XX and 9 cases of 46, XY. Aneuploidy was found in 1 case which was 46, XY/47, XXY and proved by G-banding chromosomal on cord blood. CONCLUSION: Fetal aneuploidy could be diagnosed within 24 hours after the amniocentesis by FISH. FISH is a rapid, accurate and reliable method to detect fetal aneuphoidy in uncultured amniocytes.