NIPT与NIPT-plus在产前筛查中的应用效能比较

Comparison of efficiencies of NIPT and NIPT-plus in prenatal screening

目的比较孕妇外周血胎儿游离DNA无创产前检测(NIPT)和拓展性NIPT(NIPT-plus)在胎儿染色体异常产前筛查的检测效能。方法对9302例接受无创产前检测的孕妇检测结果进行回顾,其中5780例选择NIPT,3522例选择NIPT-plus,对高风险孕妇行介入性产前诊断进一步明确诊断,分析两种方法的检测效能。结果NIPT和NIPT-plus总体筛查阳性率分别为1.11%和2.02%,检测失败率分别为0.08%和0.05%。NIPT对T21、T18、T13、SCAs、RCAs和CNVs的阳性预测值分别为73.33%、50.00%、50.00%、17.14%、0.00%和0.00%;NIPT-plus对以上异常的阳性预测值分别为100.00%、80.00%、100.00%、38.09%、33.33%和27.03%;两种方法比较,差异均无统计学意义(P>0.05)。结论NIPT-plus对T21/T18/T13、SCAs和RCAs的筛查效能与NIPT相近,但NIPT-plus可在产前提前对某些致病性CNVs的检出,仍具有较高的临床应用价值。

Objective Comparison of efficiencies of non-invasive prenatal testing(NIPT)and expanded NIPT(NIPT-plus)in prenatal screening for fetal chromosome abnormalities.Methods The results of 9302 pregnant women who received the examination were reviewed,of which 5780 cases accepted NIPT and 3522 cases accepted NIPT-plus.Patients with high-risks received further prenatal diagnosis.The testing efficiencies of the two methods were analyzed and compared.Results The overall positive rates of NIPT and NIPT-plus were 1.11%and 2.02%,with the failure rates of 0.08%and 0.05%,respectively.The positive predictive value(PPV)of NIPT for trisomy 21,18,and 13(T21,T18,and T13),sex chromosome aneuploidies(SCAs),rare chromosomal aneuploidies(RCAs)and copy number variations(CNVs)was 73.33%,50.00%,50.00%,17.14%,0.00%and 0.00%.Respectively,the PPV of NIPT-plus for the above abnormalities was 100.00%,80.00%,100.00%,38.09%,33.33%and 27.03%.There were no significant differences in PPV of the two methods for chromosomal abnormalities(P>0.05).Conclusion The screening efficiency of NIPT-plus for T21/T18/T13,SCAs and RCAs is similar to that of NIPT.NIPT-plus could help detect some pathogenic CNVs in advance with good clinical value.