荧光原位杂交在未培养羊水细胞产前诊断中的临床应用研究  

Analysis for Application of the Fluorescent in Situ Hybridization on the Prenatal Diagnosis of Chromosome Aneuploidy in the Uncultured Amniocytes

作　　者：张雪梅[1] 刘珊玲[1] 陈新莲[1] 刘洪倩[1] 刘之英[1] 谢良玉[1] 夏蓓[1] 赖怡[1] 秦利[1] 王和[1] 

机构地区：[1]四川大学华西第二医院四川省产前诊断中心,四川成都610041

出　　处：《实用妇产科杂志》2009年第9期550-553,共4页Journal of Practical Obstetrics and Gynecology

基　　金：卫生部科研基金课题(编号:WKJ2007-3-001)

摘　　要：目的:建立稳定的荧光原位杂交(FISH)技术,探讨FISH技术在未培养羊水细胞产前诊断的临床应用价值。方法:应用国产5条染色体探针(13、18、21、X、Y)对411例有产前诊断指征的孕妇进行未培养羊水细胞的FISH检测,同时进行细胞染色体核型分析,对两者检测结果进行比较。结果:411例中,正常核型398例,非整倍体核型5例(均为21-三体),结构异常4例(平衡易位2例、倒位2例),染色体多态4例。其中正常核型及5例非整倍体核型能被FISH检测出,而染色体结构异常和染色体多态未能检测出;FISH检测时间为48～72小时,较传统核型分析时间(14～21天)大大缩短;FISH检测一次成功率97.3%,并且不受孕周的限制;FISH检测与细胞培养核型分析相符;FISH检测没有受到羊水性状的影响;染色体非整倍体的诊断准确率达100%。结论:应用国产探针对未培养羊水细胞进行FISH分析,实验方法简便快速,可用于染色体非整倍体的产前诊断,有较大的临床应用价值。Objective：To establish a steady method of using fluorescent in situ hybridization （FISH） and study the clinical application value of this method on the rapid prenatal diagnosis of the chromosome aneuploidy in the uncultured amniocytes.Methods：A total of 411 patients with indications were performed amniocantesis, interphase FISH assay with 13, 18,21,X, Y chromosome-specific probes was done on them. Simultaneously, the karyotypes from conventional cytogenetic analysis after cultured amniotic fluid cells were compared to the FISH results. Results： Of 411 cases, there are five cases of aneuploidy （tdsorny 21 ）, four cases of structural abnormality, and four cases of chromosomal polymorphism. Except for structural abnormality and chromosomal polymorphism, FISH can identify all five cases of aneuploidy, which were consistent with conventional cytogenetic results and FISH takes only 48 - 72 hours. Compared to conventional cytogenetic analysis, the accuracy of FISH with specific probes was 100% in this study. Conclusions;Our experiment demonstrates that FISH can provide a rapid and accurate clinical method for prenatal identification of chromosome aneuploidies on uncultured amniocytes.

关 键 词：荧光原位杂交 未培养羊水细胞 非整倍体 产前诊断 

分 类 号：R714.5[医药卫生—妇产科学]