光原位杂交技术与羊水染色体核型分析在产前诊断中的作用和意义

目的探讨荧光原位杂交技术（fluorescence in situ hybridization,FISH）与羊水染色体核型分析在产前诊断中的应用价值。方法对未培养羊水间期细胞进行荧光原位杂交;同时进行羊水细胞培养和染色体核型分析,比较两种方法所得到的结果。结果在染色体核型正常的标本中,也可以出现少量带有异常杂交信号的核。这个研究中对1例21-三体的胎儿作出正确诊断。但FISH对1例染色体结构异常胎儿无法诊断。结论FISH技术对检出染色体非整倍体有较强的特异性。较适用于高龄妇女的产前诊断。对于胎儿有B超异常和有过流产史的孕妇应采取染色体核型分析进行产前诊断。

Study on the effect of karyotype of amniocytes and FISH in prenatal diagnosis

Objective： The study was to evaluate the effect of karyotype of amniocytes and fluorescence in situ hybridization （FISH） in prenatal diagnosis. Methods： FISH was preformed on uncultured amniocytes by using 21, 13, 18, X and Y- probes. The karyyotype of fetus was get from culture amniocytes. Results ： The results of 21, 13, 18, X - probe showed a low one - signal or trisignal rate in normal karyotype of fetus. In the study, the 21 - trisomy was diagnosed by FISH. But the case of chromosome structure abnormalities was not diagnosed by FISH. Conclusion： FISH was effective for the prenatal diagnosis in high age pregnancy. But in case of the chromosome structure abnormalities, the karyotype was necessary.