荧光原位杂交技术在未培养羊水快速产前诊断中的应用  

Detection of fetus aneuploid in uncultured amniotic fluid by flurescent in situ hybridization.

作　　者：刘东云[1] 何瑶[1] 文建庆[1] 李雪齐[1] 黄国宁[1] 

机构地区：[1]重庆市妇幼保健院遗传与生殖研究所,重庆400013

出　　处：《中国优生与遗传杂志》2010年第3期55-56,58,共3页Chinese Journal of Birth Health & Heredity

基　　金：卫生部科研基金课题;编号WKJ2007-3-001

摘　　要：目的建立运用荧光原位杂交技术（fluorescence in situ hybridization，FISH）检测未培养羊水细胞染色体数目的产前诊断方法。方法对100例妊娠15—26周抽取的羊水未经培养进行FISH检测，均采用13、21、18、X、Y号染色体荧光探针检测，同时行羊水培养染色体核型分析，比较两种检测方法结果的一致性。结果100例产前诊断者中未培养羊水细胞FISH检测均于48h内完成，发现6例21-三体和1例18-三体，与羊水培养染色体核型分析结果一致，后者显示6例21-三体中4例为完全型、2例为易位型21-三体。结论FISH技术与传统的羊水培养染色体核型分析相比较，具有方法快速、简便、准确可靠的特点，但无法完全取代传统的染色体核型分析，应两者结合应用于临床。Objective： To establish the fluorescence in situ hybridization （FISH） detection method for fetus aneuploid in unclutured amniotic fluid. Methods ： 100 cases of uncultured amniotic fluid from 15 weeks to 26 weeks pregnancy women were studied. All of these cases were detected chromosome 13, 21, 18, X, Y by FISH. The amniotic fluid were cultured for chromosome analysis at the same time. The two results were compared. Results ： All of the FISH detection were finished in 48 hours, much shorter than amniotic fluid culture and chromosome analysis. Among the 100 cases, 6 were detected as trisomy 21, whild 1 was detected as trisomy 18 by FISH. The amniofluid culture and chromosome analysis results confirmed all of the trisomy 21 and trisomy 18. At the same time, 2 of 6 trisomy 21 were found as translocation by chromsome analysis. Conclusion： FISH can be used in prenantal diagonosis for it is rapid, accurate and easy to carry out. While it can not substitute the traditional chromosome analysis. It is recommended to combine the two method in prenantal diagnosis for clinical use.

关 键 词：荧光原位杂交 羊水 产前诊断 

分 类 号：R714.55[医药卫生—妇产科学]