摘要
目的探讨高通量测序技术行孕妇外周血浆中游离DNA检测胎儿染色体非整倍体的可行性。方法选择2011年11月-2014年7月,在浙江省温州市中心医院接受孕妇外周血中游离胎儿DNA检测的孕妇共3 447例,孕周为12周~33周,对检测结果阳性者行介入性穿刺及胎儿染色体分析,对检测结果阴性者随访。结果 38例均行介入性产前诊断,其中21-三体检测阳性者22例,诊断符合率为100%;18-三体检测阳性者3例,均行羊膜腔穿刺,核型均为47,XN,＋18;13-三体检测阳性者1例,与核型分析相符。结论高通量测序技术行胎儿染色体非整倍体检测,敏感性、特异性高,可作为二次筛查方法,减少介入性产前诊断的压力。
Objective To explore the feasibility of the detection of fetal chromosomal non complete ploidy of free DNA in peripheral blood plasma of pregnant women by high throughput sequencing technology. Methods From November 2001 to July2014,3 447 women in the week of gestation for 12- 33 weeks,who were detected free fetal DNA in maternal peripheral blood of Wenzhou Central Hospital of Zhejiang province,were selected. Interventional puncture and fetal chromosome analysis were conduced to the women with positeve results. Follow up negative test results. Results 38 cases were underwent interventional prenatal diagnosis. Among them there were 22 positive cases of 21- trisomy with diagnostic accordance rate 100%; 3 positive cases of 18- trisomy were performed amniocentesis with the karyotype of 47,XN,＋ 18. There was 1 positive case of 13- trisomy,which was consistent with the karyotype analysis. Conclusion High throughput sequencing technology for the detection of fetal chromosomal ploidy had high sensitivity specificity. It can be used as a secondary screening method to reduce invasive prenatal diagnosis.
出处
《中国卫生检验杂志》
CAS
2016年第10期1430-1432,共3页
Chinese Journal of Health Laboratory Technology
基金
浙江省人口计生委项目(JSW2012-A001)
浙江省卫计委项目(2015RCB027)
温州市公益技术研究医学项目(Y20140745)
