荧光原位杂交与核型分析技术产前诊断非整倍体的对比研究  

Comparative study on application of fluorescence in situ hybridization and standard karyotype analysis for detection of common chromosomal aneuploidies on uncultured amniotic fluid cells

作　　者：王晨虹[1] 周璐[1] 李胜利[1] 袁晖[1] 

机构地区：[1]深圳市妇幼保健院产前诊断中心,深圳518028

出　　处：《现代妇产科进展》2009年第3期201-204,共4页Progress in Obstetrics and Gynecology

基　　金：国家卫生部科研基金课题(No:WKJ2007-3-001)

摘　　要：目的：在羊水未培养细胞样本中建立并优化荧光原位杂交技术,应用国产探针检测,探讨其诊断未培养羊水细胞非整倍体的临床应用价值。方法：对100例孕12～27周未培养羊水细胞进行FISH快速产前诊断,对5条染色体（X、Y、13、21和18号）进行检测。以细胞培养常规核型分析作为FISH检测结果的对照。结果：被检100例羊水未培养细胞均获得诊断结果,检测出7例非整倍体,FISH结果与核型分析结果一致。结论：应用国产探针行FISH诊断未培养羊水细胞非整倍体,实验方法成熟稳定,结果准确可靠,符合产前诊断要求,有较大的临床应用价值。Objective：To establish a rapid and convenient method of fluorescence in situ hybridization（FISH） on interphase nuclei of uncultured amniotic fluid cells and evaluate the feasibility of using FISH for the detection of a few common chromosome aneuploidies on uncultured amniocytes.Methods：Amniotic fluid samples were taken from 100 women at 12～27 weeks of pregnancy;FISH was performed for diagnosing aneuploidies of five chromosomes（13,18,21,X and Y）.Then the karyotypes from standard cytogenetic analysis were compared to the FISH results.Results：FISH was successful in 100 cases,and 7 aneuploidies found by FISH were in accordance with the results of traditional cytogenetic.Conclusion：FISH analysis of uncultured amniotic fluid cells is a rapid,accurate and very sensitive method.It can be used in the cytogenetic laboratory.

关 键 词：产前诊断 荧光原位杂交 非整倍性 羊水未培养细胞 

分 类 号：R714.15[医药卫生—妇产科学]