改良荧光原位杂交技术在产前诊断中的应用  

The application of improved fluorescent in situ hybridization(FISH) in prenatal diagnosis.

作　　者：张静引[1] 孙丽洲[1] 肖云山[1] 卢守莲[1] 王珏[1] 曹郡[1] 

机构地区：[1]南京医科大学第一附属医院妇产科,南京210029

出　　处：《现代妇产科进展》2009年第6期442-445,共4页Progress in Obstetrics and Gynecology

基　　金：卫生部科研基金资助项目(No:WKJ2007-3-001)

摘　　要：目的：评价改良荧光原位杂交（fluorescent in situ hybridization,FISH）技术在产前诊断中的应用。方法：用改良FISH技术检测119例孕16-24周孕妇的羊水间期细胞及10例孕25-32周胎儿脐血间期细胞,5例孕9-12周绒毛间期细胞,每例均行常规染色体核型分析。结果：应用改良FISH法,所有样本均在6h内获得检测结果,除2例羊水培养失败外,其余样本均在3周内获得细胞遗传学诊断。两种方法均检出特氏综合征、18-三体综合征、21-三体综合征各1例,另5例常规染色体核型分析异常,因超出检测范围,FISH法未能检出,所有样本的两种方法检测结果均一致。结论：经改良后的FISH技术缩短了诊断时间,缓解了孕妇及家属的焦虑心情,且可用于多种不同样本的检测,因其高效、省时、取材多样等优点在产前诊断具有重要的临床价值。Objective：To study improved fluorescent in situ hybridization （FISH） in prenatal diagnosis. Methods：The interphase nuclei of amniotic fluid from 119 pregnant women with 16 -24 gestational weeks, umbilical cord blood from 10 pregnant women with 25 - 32 gestational weeks and chorionic villus from 5 pregnant women with 9- 12 gestational weeks were detected by chromosome-specific DNA probes of 13,18,21 ,X and Y chromosomes. The routine karyotypes analysis was performed at the same time. Results：The improved FISH diagnosis of all 134 species was achieved in 6h,while 132 chromosome karyotypes diagnosis acquired in 3 weeks, since failed cell culture occurred in 2 amniotic fluid cases. For the two methods, the diagnosis of all cases matched perfectly. Chromosome anomalies were found in 3 cases through both the two methods. 5 abnormal cases were ,found in chromosome karyotypes analysis only, over,it can be applied in a wide range of samples tested. So, the improved FISH technology holds an important clinical value in the field of prenatal diagnosis.

关 键 词：荧光原位杂交 染色体异常 产前诊断 羊水 绒毛膜绒毛 脐血 

分 类 号：R714.3[医药卫生—妇产科学]