荧光原位杂交技术在唐筛高危人群产前诊断中的应用

Clinical application of FISH in rapid prenatal diagnosis of high-risk group of Down′s syndrome

目的探讨荧光原位杂交(FISH)技术在唐氏综合征产前筛查(简称唐筛)高危人群快速产前诊断中的应用价值。方法选择2012年1月至2016年1月期间于西安交通大学第一附属医院就诊的218例唐筛高危孕妇为研究对象,218例孕妇均行羊膜腔穿刺术,并对羊水细胞分别行FISH实验和染色体核型分析检测,分析FISH技术在快速产前诊断中的应用价值。结果在218例孕妇中,FISH实验检出染色体数量异常9例(4.13%),其中21-三体综合征5例,18-三体综合征2例,13-三体综合征1例,45X[25]/46,XY[75]1例;染色体核型分析检出异常染色体核型11例(5.04%),较FISH多检出平衡易位1例,染色体多态性1例。结论 FISH技术具有耗时短、灵敏度高等特点,对于唐筛高危人群快速产前诊断具有重要作用,但由于受到探针种类的限制,检测范围有限,应联合染色体核型分析进行临床应用。

Objective To explore the clinical application of fluorescence in situ hybridization（FISH）in rapid prenatal diagnosis of high-risk group of Down′s syndrome.Methods Totally 218 pregnant women with high risk in screening test for Down＇s syndrome（DS）underwent amniocentesis,who visited the First Affiliated Hospital of Xi＇an Jiaotong University during January 2012 to January 2016.FISH and routine chromosome karyotype analysis were applied in 218 amniotic fluid specimens to analyze the clinical application of FISH in rapid prenatal diagnosis.Results Among 218 pregnant women,9 cases（4.13%）were tested with abnormal chromosome number by FISH,including 5 cases of DS,2 cases of 18 th trisome sydrome,1 case of 13 th trisome sydrome,and 1 case of 45 X[25]/46,XY[75].Meanwhile,11 cases of abnormal chromosomes were detected by chromosome karyotype analysis,and the total detection rate was 5.04%.One more case of balanced chromosomal translocation and 1 case of chromosome polymorphism were identified by chromosome karyotype analysis.Conclusion FISH has the characteristics of short time-consuming and being high sensitive,which has played an important role in rapid prenatal diagnosis of high-risk group of DS.But with limited probe types,a combination of FISH and chromosome karyotype analysis will give the best clinical evaluation.