摘要
目的:使用荧光原位杂交(FISH)技术对胎儿染色体数目异常进行快速检测并评估其临床应用价值。方法:使用第13、18、21、X和Y5条染色体特异性的FISH探针对245例孕妇采用未经培养的新鲜羊水进行产前诊断,并与同时进行的羊水染色体检查结果进行对照。另外,选取36例染色体分析结果异常的存档标本(包括20例羊水标本和16例外周血/脐带血标本)对该检测技术进行验证。结果:使用FISH方法成功诊断唐氏综合征9例,18-三体综合征2例,性染色体数目异常3例,和同时进行的常规羊水染色体检查结果一致。但有4例经羊水染色体检出的染色体数目和结构异常,FISH因固有技术限制无法检出。在验证实验中,36例存档标本,全部染色体数目异常均能成功检出,成功率100%。结论:荧光原位杂交(FISH)技术检测第13、18、21、X和Y数目异常是准确快捷的产前诊断方法,值得推广应用。
Objective：To study the rapid prenatal diagnosis of chromosome number abnormality by fluorescence in situ hybridization （FISH） and its application value.Methods：The uncultured amnioticfluid from 245 women,with high risk of chromosome number abnormality and during 16~24 gestational weeks,were performed FISH using specific DNA probes of 13,18,21,X and Y chromosomes,and compared simultaneously with the results by traditional karyotyping. To test the affectivity of interphase FISH,36 cases with chromosome number abnormality were collected and performed FISH using double-blind method.Results：Of 245 pregnancies tested,14 cases were tested with chromosome number abnormality,including 9 cases with 21 trisomy,2 cases with 18 trisomy and 3 cases with sex chromosome abnormality,which were successfully detected both by interphase FISH and karyotyping; 4 fetus carrying structural chromosome abnormalities,mostly inhered from their parents,were not found out by FISH method.In the verification experiments ,all 36 cases with chromosome number abnormality were detected successfully by FISH.Conclusion：Fluorescence in situ hybridization （FISH） is an effective and reliable method in rapid prenatal diagnosis of chromosome number abnormality,and worth to popularize and apply widely.
出处
《中国妇幼保健》
CAS
北大核心
2010年第26期3810-3813,共4页
Maternal and Child Health Care of China
基金
卫生部科研基金资助〔WKJ2007-3-001〕
关键词
荧光原位杂交
产前诊断
染色体数目异常
Fluorescence in situ hybridization
Prenatal diagnosis
chromosome number abnormality
