荧光原位杂交技术在产前超声诊断异常患者中的应用

Study of fluorescence in situ hybridization in prenatal diagnosis of abnormal ultrasound gravida

目的应用荧光原位杂交(FISH)技术及细胞学对照,评价产前超声诊断异常患者胎儿的染色体异常。方法应用5种(21、13、18、X和Y)FISH探针,平行细胞染色体分析进行133名产前超声诊断异常孕妇胎儿的染色体核型。结果 133例产前超声诊断异常孕妇,共检出非整倍体异常核型34例,FISH检测与细胞染色体分析结果一致。胎儿颈项透明层(NT)增厚作为标记21-三体综合征的特异性指标,在同时合并高龄(年龄>35岁)的孕妇中,高度提示发生21-三体综合征的可能。结论荧光原位杂交,能有效检测绝大多数胎儿染色体非整倍体异常。对于NF合并高龄孕妇,应结合该技术确定胎儿染色体是否异常。

Objective：To evaluate the application of fluorescence in situ hybridization（FISH） in prenatal diagnosis of abnormal ultrasound gravida.In the mean time,cytogenetic karyotype analysis was performed as control.Methods：5 chromosomes（21,13,18,X and Y）were detected with FISH.133 abnormal ultrasound gravidas were selected for investigation.Results： Of all the 133 gravidas,34 samples were shown with abnormal karyotypes.results of both FISH and cytogenetic karyotype analysis exhibited extreme concordance of 5 chromosomes.As a specify index,nuchal translucens increase and 35 year old was high correlated with trisomy 21 syndrome.Conclusion：FISH can effectively detect most fetal aneuploidy.For abnormal ultrasound gravid with 35 year old,final diagnosis should be done as soon as possible.