【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。更多还原

【Abstract】 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 cytogenetic 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 cases.seven samples were found to have abnormal chromosomes.Four were Down’s syndrome(three were the standard Down’s 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.更多还原