荧光原位杂交技术在胎儿染色体数目异常诊断中的应用  

Fluorescence in situ hybridyzation on diagnosis of fetal chromosome aneuploidy

作　　者：刘学军[1] 刘慈[1] 尹红亚[1] 辛虹[1] 

机构地区：[1]河北医科大学第二医院,河北石家庄050000

出　　处：《山东医药》2008年第33期10-11,共2页Shandong Medical Journal

基　　金：河北省科学技术研究与发展指导计划基金资助项目(072761723)

摘　　要：目的探讨荧光原位杂交（FISH）技术在未培养羊水细胞染色体数目异常诊断中的应用价值。方法选择30例孕16－27周、有产前诊断指征的孕妇,采用21、13染色体位点特异性探针和18、X、Y染色体着丝粒探针,用FISH技对孕妇未培养羊水间期细胞进行检测;同时对所有受检者的羊水标本进行细胞培养,然后行常规染色体核型分析。结果30例标本均获得诊断结果,发现染色体异常1例（为标准型21号染色体三体）,且FISH检测结果与常规核型分析结果完全一致。结论FISH技术用于产前诊断胎儿染色体数目异常简便、快速、准确。Objective To evaluate the feasibility of fluorescence in situ hybridyzation on detection of chromosome aneuploidies in uncultured amniocytes.Methods Amniotic fluid samples were taken from 30 women of 16 - 27 gestational weeks with indications of prenatal diagnosis. Region-specific DNA probes to chromosomes 21,13, 18, X, Y were used to determine ploidy by analysis of signal number in hybridized nuclei. Karyotypes from standard eytogenetic analysis were compared to the FISH results. Results One case of trisomy 21 was detected by interphase FISH.The FISH results were consistent with conventional cytogenetic analysis. Conclusion FISH can provide a rapid and accurate clinical method for prenatal identification of chromosome aneuploidies.

关 键 词：荧光原位杂交技术 染色体异常 羊水 

分 类 号：R714.5[医药卫生—妇产科学]