扩展性无创产前检测应用于孕期产前筛查的临床效果分析

Analysis of the effect of expanded non-invasive prenatal testing in prenatal screening population during pregnancy

目的分析将扩展性无创产前检测(expanded non-invasive prenatal testing,NIPT plus)应用于孕期产前筛查的临床效果。方法回顾2018年9月至2019年12月在本中心自愿接受NIPT-plus检测的3700例孕妇的筛查结果、产前诊断以及妊娠结局。结果在3700例孕妇中,74例(2.0%)的结果为高风险,其中63例孕妇接受了侵入性产前诊断,确诊19例,阳性预测值为30.2%。NIPT-plus对于常见染色体三体的阳性预测值较高,对性染色体非整倍体和微缺失微重复的阳性预测值为中低水平。结论作为一种新的筛查技术,NIPT-plus较传统的方法具有更广阔的应用前景,可为临床医师和孕妇提供重要的参考。

Objective To explore the clinical effect of expanded non-invasive prenatal testing(NIPT-plus)for prenatal screening.Methods The screening result,prenatal diagnosis and pregnancy outcome of 3700 pregnant women who volunteered NIPT-plus screening at our center from September 2018 to December 2019 were reviewed.Results Among the 3700 pregnant women,74(2.0%)were scored positive for clinically significant fetal chromosomal abnormalities and underwent NIPT-plus screening.Sixty three women with a high risk underwent invasive prenatal diagnosis,among whom 19 were diagnosed,which yielded a positive predictive value(PPVs)of 30.2%(19/63).Statistical analysis showed that NIPT-plus has higher PPVs for common aneuploidies and low-to-medium PPVs for sex chromosome aneuploidies and microdeletion/microduplication syndromes.Conclusion As a screening technique,NIPT-plus has broader applications compared with conventional techniques,and has reference value for clinicians and pregnant women during pregnancy.