应用荧光原位杂交技术快速诊断胎儿染色体数目异常

目的 探讨荧光原位杂交（ｆｌｕｏｒｅｃｅｎｔ ｉｎ ｓｉｔｕ ｈｙｂｒｉｄｉｚａｔｉｏｎ，ＦＩＳＨ）技术在快速产前诊断胎儿染色体数目异常中的价值。方法 对２０例孕１６￣３６周，有产前诊断指征者，在Ｂ超引导下经腹抽取羊水后，应用Ｘ、Ｙ、１８号染色体着丝粒探针１３ｑ１４－ｑ２１和２１ｑ１１特异性探讨，对未培养的羊水间期细胞进行ＦＩＳＨ，然后用荧光显微镜进行观察，并用Ａｐｐｌｉｅｄ ｉｍａｇｉｎｇ染色体

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.