国产探针荧光原位杂交技术用于产前诊断未培养羊水细胞染色体异常的研究  

Application of fluorescence in situ hybridization in prenatal diagnosis of chromosomal abnormalities in uncultured amniocytes： a multi.center study

作　　者：王树玉[1] 黄醒华[2] 贾婵维[1] 李颖[1] 任国庆[1] 

机构地区：[1]首都医科大学附属北京妇产医院生殖遗传中心,100026 [2]首都医科大学附属北京妇产医院生殖遗传中心产科,100026

出　　处：《中华妇产科杂志》2009年第7期492-495,共4页Chinese Journal of Obstetrics and Gynecology

基　　金：卫生部科研基金（WKJ2007-3-001）

摘　　要：目的探讨国产探针荧光原位杂交（FISH）技术用于产前诊断未培养羊水细胞染色体非整倍体异常的临床价值，评价国产探针的性能。方法应用FISH技术对全国37家省级及地区级医院产前诊断中心就诊的孕16-24周的1369例孕妇的未培养羊水细胞进行快速产前诊断；应用多色FISH技术对5条染色体（21、13、18、X和Y）进行检测。同时将羊水细胞接种、培养，行常规细胞染色体核型分析，作为FISH检测结果的对照。结果被检测的1369份样本中，1361例未培养羊水细胞获得诊断结果，检测成功率99．42％（1361／1369）。共检出异常核型35例，异常核型检出率为2．57％（35／1361），其中包括21三体22例；13三体4例；18三体6例；18二倍体、X01例；18二倍体、XXY2例。FISH检测结果与常规细胞染色体核型分析结果一致。结论应用国产探针FISH技术检测未培养羊水细胞染色体数目异常具有快速、简便、所用样本革少的优势，结果准确可靠。Objective To evaluate the application of domestic probe fluorescence in situ hybridization （FISH） in prenatal diagnosis on uncultured amniocytes aneuploid. Methods One thousand three hundred and sixty-nine uncultured amniocytes （16 -24 gestational weeks） from 37 hospitals in China were selected for prenatal diagnosis. 5 chromosomes （21, 13, 18, X and Y） were detected with multicolor FISH. In the mean time, cytogenetic karyotype analysis was performed as control. Results Of all the samples, 1361 samples were successfully tested by FISH, the rate of successful detection was 99. 42% （1361/1369）. Thirty-five samples were shown with abnormal karyotypes by domestic FISH probe, the abnormal rate is 2. 57% （35/1361）, including trisomy 21 （22 samples）, trisomy 13 （4 samples）, trisomy 18（6 samples）, X0 （1 sample） and XXY （2 samples）. Results of both FISH and cytogenetic karyotype analysis exhibited extreme concordance. Conclusion Domestic FISH probe used in prenatal diagnosis on uncultured aminiocytes showed the following advantages, such as highly efficient, low cost, small amounts of samples needed and reliable results.

关 键 词：染色体畸变 产前诊断 羊水 原位杂交 荧光 非整倍性 多中心研究 

分 类 号：R686[医药卫生—骨科学]