论文部分内容阅读
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例为嵌合体),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 investigate the value of fluorescence in situ hybridization (FISH) in prenatal diagnosis of aneuploidy of cord blood cells. Methods From 2004-06-2005-03, 114 pregnant women from Guangzhou Maternity Hospital were enrolled in this study. Umbilical cord blood cells were detected by fluorescence microscopy with the X / Y chromosome centromere probe and 21q22.13-q22.2-specific probe, and then analyzed by the Leica KF-QFISH software The intake and handling. At the same time, all umbilical cord blood samples were cultured in the cell culture, and conventional chromosome G banding karyotype analysis was used as a control. Results The results of FISH in 114 cases of umbilical cord blood samples were analyzed. Among the 107 cases, there were 7 cases with normal karyotypes and abnormalities, of which 4 cases were Down Syndrome (3 cases were Down syndrome and 1 case was chimera) 3 cases of sex chromosome abnormalities. Conclusion The FISH technique is used for prenatal diagnosis of common chromosome abnormalities in umbilical cord blood. It has the advantages of simple, rapid and specific, which can provide the basis for clinical diagnosis.