长沙市无创产前检测民生项目结果的回顾性分析及成本效果研究

Retrospective and cost-effective analysis of the result of Changsha Municipal Public Welfare Program by Noninvasive Prenatal Testing

目的探讨无创产前检测技术(non-invasive prenatal testing,NIPT)在健康民生项目中的应用价值和卫生经济学价值。方法对长沙市健康民生项目2018年4月9日至2019年12月31日收集的149165例NIPT结果进行回顾性分析,为高风险者提供产前诊断,随访妊娠结局,并对NIPT筛查预防21三体综合征的策略进行卫生经济学评估。结果共完成149165例NIPT检测,成功148749例(99.72%),对长沙户籍孕妇的覆盖度达90%,去除年龄、采样日期等数据有误的样本211例,有效样本148538例(99.58%)。415例(0.27%)NIPT检测提示高风险,其中381例(91.81%)接受了产前诊断,共确诊212例21三体,阳性预测值(positive predictive value,PPV)为85.14%;18三体41例,PPV为48.81%;13三体10例,PPV为20.83%。NIPT检测的灵敏度和特异性分别为21三体(97.70%,99.98%)、18三体(97.62%,99.97%)、13三体(100%,99.97%)。另外确诊213例性染色体非整倍体异常,PPV为46.2%;确诊其他染色体异常30例,PPV为16.57%。针对21三体综合征的筛查,本项目筛查成本为12079.15万元,产生效益105694.72万元,成本效果比为56.98万元,成本效益比为1:8.75,安全指数为0.0035。结论NIPT对21三体的筛查效果最好,对18三体、性染色体非整倍体异常筛查准确性较好,但对其他染色体非整倍体异常筛查效果略差,将NIPT应用于孕妇全筛查具有较高的卫生经济学价值。

Objective To assess the practical and health economical values of non-invasive prenatal test(NIPT)in Changsha Municipal Public Welfare Program.Methods A retrospective analysis was carried out on 149165 women undergoing NIPT test from April 9,2018 to December 31,2019.For pregnant women with high risks,invasive prenatal diagnosis and follow-up of pregnancy outcome were conducted.The cost-benefit of NIPT for Down syndrome was analyzed.Results NIPT was carried out for 149165 pregnant women and succeeded in 148749 cases(99.72%),for which outcome were available in 148538(99.86%).90%of pregnant women from the region accepted the screening with NIPT.415(0.27%)were diagnosed as high risk.Among these,381(91.81%)accepted amniocentesis,which led to the diagnosis of 212 cases of trisomy 21(PPV=85.14%),41 cases with trisomy 18(PPV=48.81%)and 10 cases with trisomy 13(PPV=20.83%).The sensitivity and specificity of NIPT for trisomy 21,trisomy 18 and trisomy 13 were(97.70%,99.98%),(97.62%,9.97%)and(100%,99.97%),respectively.In addition,213 and 30 cases were diagnosed with sex chromosomal aneuploidies(PPV=46.2%)and other autosomal anomalies(PPV=16.57%),respectively.For Down syndrome screening,the cost and benefit of the project was 120.79 million yuan and 1,056.95 million yuan,respectively.The cost-benefit ratio was 1∶8.75,and safety index was 0.0035.Conclusion NIPT is a highly accurate screening test for trisomy 21,which was followed by trisomy 18 and sex chromosomal aneuploidies,while it was less accurate for other autosomal aneuploidies.The application of NIPT screening has a high health economical value.