荧光原位杂交技术在1459例羊水产前诊断中的应用研究  

Research on FISH technique in prenatal genetic diagnosis of 1 459 cases of amniotic fluid samples

作　　者：张利平 剡红民 秦翠云 娄超 马晓萍 郑军 强荣 

机构地区：[1]陕西省妇幼保健院遗传室,陕西西安710003

出　　处：《中国妇幼健康研究》2013年第1期20-22,36,共4页Chinese Journal of Woman and Child Health Research

基　　金：卫生部科研基金课题资助项目（WKJ2007-3-001）

摘　　要：目的探讨荧光原位杂交技术在快速产前诊断胎儿染色体非整倍体异常中的临床价值。方法使用荧光原位杂交技术（FISH），选用荧光素标记的双色13／21染色体位点特异性探针和三色18／X／Y染色体着丝粒探针，检测1459例胎儿羊水细胞。结果采用双色13／21和三色18／X／Y染色体荧光探针检测，发现20例唐氏综合征，4例18-三体综合征，1例13-三体综合征，1例45，x，2例47，XXX。荧光原位杂交检测结果和常规细胞遗传学检测结果相比，在诊断染色体数目异常方面两者符合率为96．6％（28／29）。结论FISH技术在快速产前诊断特定染色体数目异常有较高的临床价值，但不能作为单独的方法检测染色体异常。Objective To investigate the clinical value of fluorescence in situ hybridization （FISH） technique in rapid prenatal diagnosis of chromosome aneuploidy of fetus. Methods With FISH technique, fluorescein-labeled bicolor 13th/21th chromosomal loci specificity probe and triad colour 18th/X/Y kinomere probe were used to detect 1 459 uncultured amniotic fluid samples. Results Twenty cases of down syndrome （DS）, 4 cases of 18th trisome syndrome, 1 case of 13th trisome syndrome, 1 case of 45, X and 2 cases of 47, XXX were detected in the test with the probes. When results detected by FISH were compared with those of conventional cytogenetic detection, the coincidence was 96.5% （28/29）. Conclusion FISH technique has high value in clinics for rapid detecting of fetus chromosome aneuploidy, but it can＇ t be taken to detect chromosomal abnormalities withot other methods.

关 键 词：荧光原位杂交技术 羊水细胞 产前诊断 临床应用价值 

分 类 号：R714.5[医药卫生—妇产科学]