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    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

      摘要
    • 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7 331例孕妇和同期接受普通无创产前基因检测(NIPT)的48 829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。

       

      Abstract:
      Objective To research the clinical screening value of extended noninvasive prenatal genetic testing(NIPT-plus).
      Methods A total of 7 331 pregnant women who received NIPT-plus and 48 829 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.

       

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