多色荧光原位杂交用于胎儿常见非整倍体的快速产前诊断  

Application of Multi-color Fluorescence in Situ Hybridization in Rapid Prenatal Diagnosis of Common Chromosomal Aneuploidy in Fetus

作　　者：桂俊豪[1] 刘鸿春[1] 王瑞[1] 周瑾[2] 袁兰[1] 杨柳[1] 黄国香[1] 邹红云[1] 余伍忠[1] 

机构地区：[1]兰州军区乌鲁木齐总医院临床医学研究所,乌鲁木齐830000 [2]兰州军区乌鲁木齐总医院妇产科,乌鲁木齐830000

出　　处：《现代检验医学杂志》2011年第6期76-79,共4页Journal of Modern Laboratory Medicine

摘　　要：目的 探讨多色荧光原位杂交（multi-color fluorescence in situ hybridization,m-FISH） 技术用于快速诊断胎儿非整倍染色体的临床价值.方法 纳入符合产前遗传学诊断指征的孕妇126例,行羊膜腔穿刺获取羊水细胞,采用荧光标记的DNA探针对羊水细胞间期核DNA进行杂交,荧光显微镜观察、计数杂交信号类型,同时对每例标本行羊水细胞培养及染色体核型分析.结果 在126例羊水细胞样本中,FISH检出21-三体综合征胎儿4例、18-三体综合征1例、Turner综合征1例、46,XX核型67例、46,XY核型53例.FISH检测结果与羊水细胞核型分析的符合率为100%.结论 FISH结果判读直观,信号明晰,是快速、准确检测染色体数目异常的重要手段.Objective To explore the clinical significance of multi color fluorescence in situ hybridization （m-FISH） as rapid prenatal diagnosis tool for common chromosomal aneuploidy in fetus. Methods Amniotic fluid samples from a total of 126 pregnant women were obtained according to the criteria of prenatal diagnosis. Fluorescence-labeled DNA probes were used to hybridize with DNA of interphase amniotic cell,and fluorescence microscope was used to observe and analyze fluorescence signals. Additionally,each amniotic fluid sample was subjected to amniotic cell culture and karyotyping analysis. Results In concordant with the result of amniotie fluid cell karyotyping analysis, 4 cases with trisomy 21,1 case with trisomy 18,1 case with 45,XO,67 cases with 46, XX, and 53 cases with 46,XY were identified successfully by m-FISH in the 126 amniotic fluid samples,respectively. Conclusion m-FISH can serve as significant clinical tool for rapid and accurate detection of most common chromosomal aneuploidies in fetus.

关 键 词：荧光原位杂交(FISH) 非整倍染色体 产前诊断 

分 类 号：Q503[生物学—生物化学] R714.5[医药卫生—妇产科学]