长沙市不同唐氏综合征筛查策略的性能以及卫生经济学分析  

Health economic evaluation of four prenatal screening strategies for Down syndrome in Changsha, China

作　　者：贺骏[1] 王顺尧 张晶晶[1] 周世豪[1] 旷洋[1] 丁甲 杨梦月 林嘉伟 丁思意 刘少兰[1] 彭欢欢 王楠 刘激扬 He Jun;Wang Shunyao;Zhang Jingjing;Zhou Shihao;Kuang Yang;Ding Jia;Yang Mengyue;Lin Jiawei;Ding Siyi;Liu Shaolan;Peng Huanhuan;Wang Nan;Liu Jiyang(Changsha Maternal and Child Health Care Hospital,Changsha,Hunan 410007,China;BGI Biotechnology(Shenzhen)Co.,Ltd.,Shenzhen,Guangdong 518038,China;Wuhan BGI Clinical Laboratory Co.,Ltd.,Wuhan,Hubei 430010,China;Shenzhen BGI Clinical Laboratory,Shenzhen,Guangdong 518038,China;School of Public Administration,Hunan University,Changsha,Hunan 410082,China;Changsha Municipal Health Commission,Changsha,Hunan 410028,China)

机构地区：[1]长沙市妇幼保健院,长沙410007 [2]深圳华大基因股份有限公司,广东518038 [3]武汉华大医学检验所有限公司,武汉430010 [4]深圳华大医学检验实验室,广东518038 [5]湖南大学公共管理学院,长沙410082 [6]长沙市卫生健康委,长沙410028

出　　处：《中华医学遗传学杂志》2022年第8期803-808,共6页Chinese Journal of Medical Genetics

基　　金：湖南省自然科学基金 (2019JJ50681)。

摘　　要：目的比较无创产前检测(non-invasive prenatal testing,NIPT)与孕中期血清学筛查对于胎儿染色体数目异常的筛查效果并评估4种筛查策略对于预防唐氏综合征的卫生经济学价值。方法对长沙市妇幼保健院2018年3月1日至2019年12月31日的54026例同时完成NIPT和孕中期血清学筛查的单胎孕妇的临床资料进行回顾分析,为NIPT高风险孕妇提供产前诊断,通过电话或民生系统随访妊娠结局。从卫生经济学角度模拟4种筛查策略,并对其进行成本效果分析。结果NIPT的灵敏度、特异性和阳性预测值均高于孕中期血清学筛查。策略1~4分别成功预防了71、29、52和54例唐氏综合征患儿的出生;安全指数分别为0.0036、0.3944、0.2215和0.1281。NIPT费用降至600元/例时,成本效果比分别为46.33万元、60.55万元、44.30万元和39.49万元。策略1与策略4的增量成本效果比为68.04万元。结论NIPT各项检测性能均显著优于孕中期血清学筛查。当NIPT费用降至600元/例时,策略1在具有效果最好、安全性及准确率最高优势的同时也具备了更好的卫生经济学价值。Objective To compare the clinical application and health economic values of non-invasive prenatal testing(NIPT)and second trimester serum screening(STSS).Methods A retrospective analysis was carried out on 54026 singleton pregnant women undergoing NIPT and STSS from March 1,2018 to December 31,2019 in Changsha Maternal&Child Health Care Hospital.For pregnant women with high-risk results of NIPT,prenatal diagnosis and follow-up of pregnancy outcomes were conducted.The data was grouped to 4 screening models,and their cost-benefit was analyzed.Results The sensitivity,specificity and positive predictive value of NIPT were all higher than STSS.Screening models 1 to 4 have prevented the birth of 71,29,52 and 54 patients with Down syndrome,respectively.The safety index of screening models 1 to 4 were 0.0036,0.3944,0.2215 and 0.1281,respectively.When the price of NIPT was decreased to 600 RMB,the cost-benefit of the screening models 1 to 4 was 0.46,0.65,0.44 and 0.40 million RMB,respectively.Conclusion NIPT has a better detection performance than STSS.When the price of NIPT is 600 RMB,screening model 1 has the best screening effect and the highest accuracy,safety index and health economical value.

关 键 词：无创产前筛查 产前筛查 孕中期血清学筛查 21三体 18三体 成本效果分析 

分 类 号：R714.5[医药卫生—妇产科学]