中国妇幼健康研究2011，Vol.22Issue(2)：192-194,3.DOI:10.3969/j.issn.1673-5293.2011.02.028
FISH技术在产前诊断胎儿染色体数异常中的应用
Application of fluorescence in situ hybridization in rapid prenatal diagnosis of chromosome aneuploidy in uncultured amniotic fluid samples
摘要
Abstract
Objective To investgate clinical value of fluorescence in situ hybridization (FISH) in rapid prenatal diagnosis of chromosome aneuploidy of the fetus. Methods Fluorescein-labeled bicolor 13th/21th chromosomal loci specificity probe and triad colour 18th/X/Y kinomere probe were used to detect cells in uncultured amniotic fluid samples of 760 pregnact women. Results 8 fetuses with trisomy 21 syndrome, I fetus with trisomy 13 syndrome, I fetus with with 45 ,XO, 1 fetus with 47,XXX and 5 fetuses with sex chromosome mosaic syndrome were identified. The coincidence rate of diagnosis between FISH and conventional cytogenetics was 99％. Conclusion FISH technique has a high clinic value in rapid diagnosis of chromosome aneuploidy.关键词
荧光原位杂交技术/羊水细胞/产前诊断/染色体非整倍体Key words
FISH technique/ cells in amniotic fluid/ prenatal diagnosis/ chromosome aneuploidy分类
医药卫生引用本文复制引用
张利平,剡红民,秦翠云,娄超,马晓萍,郑军,强荣..FISH技术在产前诊断胎儿染色体数异常中的应用[J].中国妇幼健康研究,2011,22(2):192-194,3.基金项目
卫生部科研基金课题资助项目(WKJ2007-3-001) （WKJ2007-3-001）
