潍坊市孕妇外周血胎儿游离DNA无创产前筛查民生项目回顾性分析及实践成果研究

Retrospective and practical analysis of the result of Weifang municipal prenatal screening public welfare program by noninvasive prenatal testing

目的 探讨孕妇外周血胎儿游离DNA无创产前检测技术(Non-invasive prenatal testing, NIPT)在潍坊市健康民生项目中的临床适用性及卫生经济学价值。方法 回顾性分析潍坊市2012—2022年收集的249 709例孕妇的NIPT结果,为高风险者提供产前诊断、遗传咨询及妊娠结局的随访,并对NIPT筛查预防唐氏综合征的策略进行卫生经济学评估。结果 潍坊市2012—2022年共计完成NIPT检测249 709例,检出高风险1 064例,阳性率为0.43%,高风险孕妇完成产前诊断912例,产前诊断率为85.71%。NIPT检测的特异度和灵敏度分别为T21(99.98%,98.82%)、T18(99.97%,100.00%)、T13(99.96%,100.00%),T21、T18和T13的阳性预测值分别为94.14%、57.99%和13.68%。2012—2022年潍坊市通过无创产前民生项目共避免582个唐氏儿出生,节约社会成本22.4亿元,成本效益比为1∶13.22。结论 NIPT对T21、T18、T13筛查准确性高,将其用于孕妇筛查具有较高的卫生经济学价值。

Objective To explore the clinical applicability and health economic value of Non-Invasive Prenatal Testing(NIPT)in the Weifang municipal prenatal screening public welfare program.Methods A retrospective analysis was carried out on 249709 pregnant women undergoing NIPT from 2012 to 2022.For patients identified as high risk,prenatal diagnosis,genetic counseling,and follow-up of pregnancy outcomes were conducted.The health economic value of the NIPT screening strategy for preventing Down syndrome was also analyzed.Results A total of 249709 NIPT tests were completed in Weifang City from 2012 to 2022,identifying 1064 high-risk cases with a positivity rate of 0.43%.Prenatal diagnosis was completed for 912 high-risk pregnant women,resulting in a prenatal diagnosis rate of 85.71%.The specificity and sensitivity of NIPT were as follows:T21(99.98%,98.82%),T18(99.97%,100.00%),T13(99.96%,100.00%).The positive predictive values(PPV)for T21,T18,and T13 were 94.14%,57.99%,and 13.68%,respectively.Over the decade,the Weifang municipal prenatal screening public welfare program avoided 582 cases of Down syndrome,saving a societal cost of 2.24 billion yuan,with a cost-benefit ratio of 1∶13.22.Conclusion NIPT demonstrates high accuracy in screening for T21,T18,and T13,making it a valuable tool for maternal screening with significant health economic benefits.