唐氏筛查临界风险的非高龄孕妇有必要行无创性产前检测：6804例结果分析  

Noninvasive prenatal genetic testing in 6804 pregnant women aged less than 35 years with positive results in serum screening

作　　者：杨兴坤[1] 郭晓玲[1] 钟进[1] 陈志华[1] 吴水娟[1] YANG Xingkun;GUO Xiaoling;ZHONG Jin;CHEN Zhihua;WU Shuijuan(Prenatal Diagnosis Center, Foshan Maternal and Child Health Care Hosoital,Foshan 528000,China)

机构地区：[1]佛山市妇幼保健院产前诊断中心

出　　处：《南方医科大学学报》2019年第11期1350-1356,共7页Journal of Southern Medical University

基　　金：佛山市医学类科技攻关项目(201308002)

摘　　要：目的探讨无创性产前基因检测技术对血清学筛查阳性的非高龄孕妇血浆胎儿游离DNA进行染色体非整倍体检测的有效性。方法选择2011年10月~2018年6月于佛山市妇幼保健院行无创性产前基因检测的6804例非高龄孕妇(预产期年龄<35岁)为研究对象,孕周:12~24周,预产期年龄:21~34岁,均为单胎。按照血清学指标分为高风险组和临界风险组,血清学筛查高风险组3763例(21三体风险值≥1/270或18三体风险值≥1/350),临界风险组3041例(1/1000≤21三体风险值<1/270或1/1000≤18三体风险值<1/350)。对无创性产前基因检测结果阳性的孕妇行羊膜腔穿刺或脐静脉血穿刺,行常规染色体核型分析和/或高通量测序检测。对所有检测孕妇行电话随访,并统计分析无创性产前基因检测的准确性在两组差别有无统计学意义。结果6801例成功完成无创性产前基因检测,3例样本由于血浆游离DNA浓度过低检测失败。3761例血清学筛查高风险组中产前基因检测染色体拷贝数异常高风险者共70例,其中53例行进一步产前诊断,结果显示高风险组无创性产前检测技术对21三体检测的灵敏度为95.65%,特异度99.91%,阳性预测值88.0%,假阳性率0.09%,假阴性率4.35%;对18三体检测的灵敏度100%,特异度100%,阳性预测值100%,假阳性率0,假阴性率0。对13三体检测的假阳性率0.09%,假阴性率0;对性染色体异常检测的灵敏度100%,特异度99.80%,阳性预测值30.0%,假阳性率0.2%,假阴性率0;对其他染色体异常检测的灵敏度100%,特异度99.88%,阳性预测值16.60%,假阳性率0.18%,假阴性率0。3040例血清学筛查临界风险组产前基因检测染色体拷贝数异常高风险者共54例,其中的36例行进一步产前诊断,结果显示临界风险组孕妇无创性产前检测技术对21三体检测的灵敏度为100%,特异度100%,阳性预测值100%,假阳性率0,假阴性率0;对18三体检测的假阳性率0.11%,假阴性率0。13三体检�Objective To investigate the feasibility of noninvasive prenatal genetic testing for detecting chromosome aneuploid in pregnant women aged less than 35 years with positive results in serum screening. Methods We analyzed the plasma cellfree fetal DNA in a total of 6804 pregnant women aged less than 35 years with singleton pregnancy from Foshan maternal and child health care hospital, whose weeks of gestation ranged from 12 to 24 weeks with ages on the expected date of confinement of 21-34 years. According to the results of serum screening, the women were divided to high-risk group and critical-risk group.Amniocentesis or cordocentesis was carried out if the results of noninvasive prenatal genetic testing were positive, and karyotyping or/and high-throughput sequencing was performed as the golden standard. All the women were followed up by telephone calls to assess the accuracy of the prenatal testing. Results Noninvasive prenatal testing was successfully completed in all the 6081 cases. In the high-risk group, 70 women with positive results were tested by noninvasive prenatal testing,among whom 53 were confirmed by karyotyping or high-throughput sequencing. In this group, the sensitivity, specificity and positive predictive value of trisomy 21 syndrome detection was 95.65%, 99.91% and 88.0%, respectively, with a false positive rate of 0.09% and a false negative rate of 4.35%;the sensitivity, specificity and positive predictive value for trisomy 18 syndrome was 100%, 100% and 100%, respectively, with false positive and false negative rates of 0;the false positive rate and false negative rate for trisomy 13 syndrome was 0.09% and 0, respectively;the sensitivity, specificity and positive predictive value for sex chromosome aneuploid as 100%, 99.80% and 30.0%, respectively, with a false positive rate of 0.2% and a false negative rate of 0;the sensitivity, specificity and positive predictive value for other chromosome aneuploid was 100%, 99.88%and 16.60%, respectively, with a false positive rate of 0.18% and a false ne

关 键 词：无创性产前检测 染色体非整倍体 游离胎儿DNA 血清学筛查 

分 类 号：R71[医药卫生—妇产科学]