扩展性无创产前基因检测的临床筛查价值分析  

Analysis of the clinical screening value of extended noninvasive prenatal genetic testing

作　　者：曹旭 王璇[2] 程小勇 翟敬芳 CAO Xu;WANG Xuan;CHENG Xiaoyong;ZHAI Jingfang(Xuzhou Clinical College,Xuzhou Medical University,Department of Gynaecology and Obstetrics,Xuzhou Central Hospital,Xuzhou Jiangsu 221000;Department of Gynaecology and Obstetrics,Wanbei Coal and Electricity Group General Hospital,Suzhou Anhui 234000,China)

机构地区：[1]徐州医科大学徐州临床学院,江苏省徐州市中心医院妇产科,221000 [2]皖北煤电集团总医院妇产科,安徽宿州234000

出　　处：《蚌埠医学院学报》2024年第10期1313-1317,共5页Journal of Bengbu Medical College

基　　金：蚌埠医科大学自然科学基金项目(2023byzd268);徐州医科大学创新团队项目(XZFC202305)。

摘　　要：目的:研究扩展性无创产前基因检测(NIPT-plus)的临床筛查价值。方法:选取接受NIPT-plus的7331例孕妇和同期接受普通无创产前基因检测(NIPT)的48829例孕妇。对筛查结果为高风险的孕妇,通过核型分析及染色体微阵列检测技术(CMA)进一步明确诊断。比较2种筛查手段对目标疾病的检出率、复合阳性预测值(PPV)和单项PPV等。结果:接受后续诊断并获取诊断结果的孕妇共690例,其中NIPT-plus检测高风险报告共128例,与诊断结果一致的65例;普通NIPT检测高风险报告562例,与诊断结果一致的285例;总PPV分别为50.78%和50.71%,差异无统计学意义(P>0.05)。进一步细分,NIPT-plus对T13、T18、T21、性染色体异常(SCAs)、罕见染色体异常(RCAs)与拷贝数变异(CNVs)的PPV分别为33.33%、61.54%、91.31%、40.00%、16.67%和51.43%,普通NIPT分别为36.99%、59.09%、89.94%、35.19%、20.00%和42.20%,差异均无统计学意义(P>0.05)。2种方法对T13、T21和SCAs、RCAs检出率差异均无统计学意义(P>0.05),但对T18和CNVs检出率差异均有统计学意义(P<0.01)。结论:普通NIPT和NIPT-plus对T13、T21以及SCAs、RCAs筛查价值相似,普通NIPT具有更高的性价比;NIPT-plus对T18和CNVs检出率高于普通NIPT,NIPT-plus对染色体微缺失微重复具有更好的筛查价值。Objective:To research the clinical screening value of extended noninvasive prenatal genetic testing(NIPT-plus).Methods:A total of 7331 pregnant women who received NIPT-plus and 48829 pregnant women who received conventional non-invasive prenatal genetic testing(NIPT)during the same period were selected.For pregnant women with high-risk screening results,the karyotype analysis and chromosomal microarray detection technology(CMA)were used to further confirm the diagnosis.The detection rate,combined positive predictive value(PPV)and single PPV bewteen two screening methods were compared.Results:A total of 690 pregnant women received follow-up diagnosis and obtained diagnosis results,128 cases of which were high-risk reports of NIPT-plus,and 65 cases were consistent with diagnosis results.Five hundred and sixty-two cases were reported as high-risk through conventional NIPT,and 285 cases were confirmed to be consistent with the diagnostic results.The total PPVs were 50.78% and 50.71%,respectively,and the difference of which was no statistical significance(P>0.05).Further subdividing,the PPVs of NIPT-plus for T13,T18,T21,sex chromosome abnormalities(SCAs),rare chromosome abnormalities(RCAs),and copy number variations(CNVs)were 33.33%,61.54%,91.31%,40.00%,16.67% and 51.43%,respectively.The PPVs of NIPT were 36.99%,59.09%,89.94%,35.19%,20.00% and 42.20%,respectively,and the differences of which was no statistical significance(P>0.05).There was no statistical significance in the detection rates of T13,T21,SCAs and RCAs between two methods(P>0.05),but there were a statistically significant in the total detection rate of T18 and CNVs(P<0.01).Conclusions:Conventional NIPT and NIPT-plus have similar screening values for T13,T21,SCAs,and RCAs,while conventional NIPT has a higher cost-effectiveness.The detection rate of T18 and CNVs by NIPT-plus is higher than that of conventional NIPT,and NIPT-plus has better screening value for chromosomal microdeletions and microduplications.

关 键 词：无创产前筛查 染色体异常 阳性筛查率 

分 类 号：R714.5[医药卫生—妇产科学]