无创产前基因检测在不同妊娠年龄孕妇中的检测性能分析  

Performance analysis of non-invasive prenatal testing in pregnant women with different gestational ages

作　　者：王晓玲 刘静[3] 陈慧英[4] 邢焕霞 郭晓[6] 苏茜 高健[7] WANG Xiao-Ling;LIU Jing;CHEN Hui-Ying(Hebei Industrial Technology Research Institute of Genomics in Maternal and Child Health,Shijiazhuang,Hebei 050000,China;BGI-Shijiazhuang Medical Laboratory,BGI-Shenzhen,Shijiazhuang,Hebei 050000,China)

机构地区：[1]河北省母婴基因与健康产业技术研究院,河北石家庄050000 [2]石家庄华大医学检验实验室有限公司,河北石家庄050000 [3]河北省妇幼保健中心,河北石家庄050031 [4]邯郸市妇幼保健院,河北邯郸056001 [5]廊坊市妇幼保健院,河北廊坊065099 [6]保定市妇幼保健院,河北保定071023 [7]河北省人民医院,河北石家庄050057

出　　处：《中国妇幼保健》2022年第22期4122-4126,共5页Maternal and Child Health Care of China

基　　金：河北省政府资助专科带头人培养项目(2018674)。

摘　　要：目的 分析不同妊娠年龄孕妇的胎儿常见染色体非整倍体发生率及无创产前基因检测用于不同妊娠年龄孕妇的检测性能。方法 收集2019年7月-2021年9月河北省约90万例接受无创产前基因检测的孕妇的相关信息,经过质控和筛选,对自然受孕、单胎、无不良孕产史及无家族疾病史的孕妇(即主要分析组)进行胎儿染色体非整倍体发生率随妊娠年龄变化的统计,再由相邻妊娠年龄孕妇间的差异分析获得年龄段分组依据,继而对无创产前基因检测用于各年龄组孕妇21-三体、18-三体及13-三体的检测性能进行对比分析。结果 906 845例孕妇经质控和筛选后得到632 913例为主要分析组,检出常见的胎儿染色体非整倍体(21-三体、18-三体及13-三体)高风险1 183例,接受产前诊断851例,确诊真阳性601例,假阳性250例。孕妇平均年龄为(28.5±4.6)岁。35岁孕妇与34岁孕妇的胎儿常见染色体非整倍体发生率相比差异有统计学意义(P<0.05),基于此将35岁作为划分高龄和非高龄的界限。高龄组和非高龄组无创产前基因检测常见染色体非整倍体(21-三体、18-三体及13-三体)的总体灵敏度分别为99.45%和99.29%,特异度分别为99.95%和99.96%,两组灵敏度和特异度相比差异均无统计学意义(均P>0.05);阳性预测值分别为85.85%和65.57%,高龄组的阳性预测值显著高于非高龄组,差异有统计学意义(P<0.05)。高龄组常见染色体非整倍体的发生率为0.49%,非高龄组为0.10%。结论 胎儿常见染色体非整倍体出生缺陷发生率在母亲妊娠年龄≤34岁时变化平缓,≥35岁时明显迅速升高。无创产前基因检测用于各妊娠年龄孕妇的检测性能稳定,在高龄孕妇中阳性预测值更高,可以作为高龄孕妇的一线筛查技术。Objective To analyze the incidence rate of fetal common chromosome aneuploidies among pregnant women with different ages and the performance of non-invasive prenatal testing(NIPT).Methods From July 2019 to September 2021, the related data of nearly 0.9 million pregnant women with NIPT testing in Hebei Province were collected, after quality control and screening, spontaneously conceived singleton pregnant women without previous history of abnormal pregnancy and family history of diseases were selected as the reference group to analyze the incidence rate of fetal chromosome aneuploidies in different groups of maternal age. Furthermore, according to the differences between adjacent maternal age, the women were categorized into advanced maternal age group and non-advanced maternal age group to compare NIPT performance for detecting trisomy 21, trisomy 18, and trisomy 13.Results A total of 632 913 pregnant women were selected as the reference group among 906 845 pregnant women with NIPT screening.A total of 1 183 high-risk cases of fetal common chromosome aneuploidies(trisomy 21, trisomy 18, and trisomy 13) were detected, 851 cases underwent prenatal diagnosis, 601 true positive cases and 250 false positive cases were found.The average age was(28.5±4.6) years in the reference group. There was statistically significant difference in the total incidence rate of fetal common chromosome aneuploidies between the pregnant women aged 35 years old and the pregnant women aged 34 years old(P<0.05),so the pregnant women were further classified into advanced maternal age group and non-advanced maternal age group using 35-year-old as the cutoff value.The sensitivities of NIPT for screening common chromosome aneuploidies(trisomy 21, trisomy 18, and trisomy 13) in advanced maternal age group and non-advanced maternal age group were 99.45% and 99.29%, respectively, the specificities were 99.95% and 99.96%, respectively, there was no statistically significant difference between the two groups(P>0.05).The positive predictive values in

关 键 词：无创产前基因检测 染色体非整倍体 妊娠年龄 高龄孕妇 

分 类 号：R715.5[医药卫生—妇产科学]