中国妇幼健康研究2013，Vol.24Issue(1)：20-22,36,4.DOI:10.3969/j.issn.1673-5293.2013.01.008
荧光原位杂交技术在1459例羊水产前诊断中的应用研究
Research on FISH technique in prenatal genetic diagnosis of 1 459 cases of amniotic fluid samples
摘要
Abstract
Objective To investigate the clinical value of fluorescence in situ hybridization ( FISH ) technique in rapid prenatal diagnosis of chromosome aneuploidy of fetus. Methods With FISH technique, fluorescein-labeled bicolor 13th/21th chromosomal loci specificity probe and triad colour 18th/X/Y kinomere probe were used to detect 1 459 uncultured amniotic fluid samples. Results Twenty cases of down syndrome ( DS ), 4 cases of 18th trisome syndrome, 1 case of 13th trisome syndrome, 1 case of 45, X and 2 cases of 47,XXX were detected in the test with the probes. When results detected by FISH were compared with those of conventional cytogenetic detection, the coincidence was 96. 5% ( 28/29 ). Conclusion FISH technique has high value in clinics for rapid detecting of fetus chromosome aneuploidy,but it can't be taken to detect chromosomal abnormalities without other methods.关键词
荧光原位杂交技术/羊水细胞/产前诊断/临床应用价值Key words
fluorescence in situ hybridization ( FISH ) technique/ amniotic cell/ prenatal diagnosis/ clinical application value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..荧光原位杂交技术在1459例羊水产前诊断中的应用研究[J].中国妇幼健康研究,2013,24(1):20-22,36,4.基金项目
卫生部科研基金课题资助项目(WKJ2007-3-001) （WKJ2007-3-001）
