荧光原位杂交技术快速产前诊断胎儿血细胞非整倍体的价值  

The value of the fluorescence in situ hybridization on the rapid prenatal diagnosis of chromosomal aneuploidies in the umbilical cord blood cells.

作　　者：吴韶清[1] 廖灿[1] 易翠兴[1] 李东至[1] 宋淑本[1] 胡舜妍[1] 周剑英[1] 

机构地区：[1]广州市妇婴医院优生围产研究所,广东广州510180

出　　处：《中国实用妇科与产科杂志》2006年第6期441-443,共3页Chinese Journal of Practical Gynecology and Obstetrics

基　　金：广州市科技局重大攻关项目基金资助(2004Z1-E0011)

摘　　要：目的 探讨荧光原位杂交（FISH）技术在产前诊断脐血细胞非整倍体中的应用价值：方法 2004-06—2005-03，对广州市妇婴医院114例孕18～38W有产前诊断指征的孕妇进行脐血穿刺。采用X／Y染色体着丝粒探针和21q22．13-q22．2特异性探针对脐血细胞进行间期FISH检测，然后在荧光显微镜下观察，用Leica染色体核型自动分析仪QFISH软件进行图像的摄取和处理。同时所有脐血标本进行细胞培养，常规染色体G显带核型分析作为对照。结果 114例脐血标本都有FISH检测结果，107例具有正常核型染色体数目，异常7例，其中4例为唐氏综合征（3例为典型唐氏综合征，1例为嵌舍体），3例为性染色体数目异常。结论 FISH技术用于产前诊断脐血常见染色体数目异常，具有简便、快速、特异性强等优点，能为临床诊断提供依据。Objective To study the method and value of fluorescence in situ hybrition（FISH） on the prenatal diagnosis of chromosomal aneuploidies in the umbilical cord blood cells. Method From June 2004 to March 2005 ,umbilical cord blood samples in the Women and Children＇s Hospital of Guangzhou were taken from 114 women at 18 -38 gestational weeks with indications of prenatal diagnosis. Interphase FISH was performed with the chromosome X and Y centromeric probes and 21q22. 13 - q22. 2 specific probes in the umbilical cord blood cells. The slides were observed under the fluorescent microscope and the images were captured by the QFISH of the Leica Microsystems. Then the G banding karyotypes from standard eytogenetie analysis after cultured umbilical cord blood cells were compared to the FISH results. Result Each of the 114 uncultured umbilical cord blood samples tested with FISH was enumerated 200 nuclei. Normal chromosome number was observed in 107 eases, seven samples were found to have abnormal chromosomes. Four were Downg syndrome（three were the standard Downg syndrome and one was a case of mosaic Down＇s syndrome） . Three had abnormal X/Y chromosomes. The abnormal samples were probed by G banding karyotypes in the umbilical cord blood cells. Conclusion Interphase FISH analysis of uncultured umbilical cord blood cells is an easy, rapid ,accurate and very sensitive method. It can be used in the pretanal cytogenetic laboratory.

关 键 词：荧光原位杂交 非整倍体 产前诊断 脐血 

分 类 号：R71[医药卫生—妇产科学]