无创产前基因检测与血清学筛查对唐氏综合征检出效果及卫生经济学比较  

Comparison of detection efficacy and health economics between non-invasive prenatal genetic testing and serological screening for Down syndrome

作　　者：王格[1] 肖鸽飞[2] WANG Ge;XIAO Ge-Fei(Department of Medical Genetics and Prenatal Diagnosis,Zhuhai Women and Children’s Hospital,Zhuhai 519001,China;Clinical Trial Center,Zhuhai Women and Children’s Hospital,Zhuhai 519001,China)

机构地区：[1]珠海市妇幼保健院医学遗传与产前诊断科,珠海519001 [2]珠海市妇幼保健院临床试验中心,珠海519001

出　　处：《实验室检测》2024年第11期143-145,共3页Laboratory Testing

基　　金：广东省医学科学技术研究基金资助(A2022466)

摘　　要：目的通过对珠海市孕妇唐氏筛查的实际检测结果和追踪随访的妊娠结局进行统计分析,并进行卫生经济学评估。方法回顾性分析2018—2021年珠海市31967例在同一孕期均做了血清学筛查(serum screening,SS)和无创产前基因检测(noninvasive prenatal testing,NIPT)的孕妇的有关数据,并按5种不同筛查策略进行成本效益分析。结果31967例妊娠中有38例为唐氏儿(其中3例孕妇年龄大于35岁),唐氏儿发生率为1/841。血清学筛查检出T21高风险1649例,其中21例为真阳性,阳性预测值为1.27%,检出率为55.3%;NIPT筛查出T21高风险49例,检出38例唐氏儿,阳性预测值为77.55%,检出率为100%。通过计算策略四所产生的总费用最少,约2744万元。结论NIPT可作为初筛试验代替血清学筛查方法在产前进行唐氏筛查的出生缺陷二级防控,具有巨大的社会效益和经济效益。Objective Through the statistical analysis of the actual detection results of Down’s disease screening and the pregnancy outcome of follow-up in Zhuhai,the health economics evaluation was carried out.Methods The data of 31967 pregnant women who underwent serum screening(SS)and non-invasive prenatal testing(NIPT)during the same pregnancy in Zhuhai City from 2018 to 2021 were retrospectively analyzed.The cost-benefit analysis was conducted according to 5 different screening strategies.Results Among 31,967 pregnancies,38 were Down syndrome babies(including 3 pregnant women aged over 35 years),with a Down syndrome incidence of 1/841.Serological screening detected 1,649 cases of high risk of T21,of which 21 were true positives,with a positive predictive value of 1.27%and a detection rate of 55.3%;NIPT screening detected 49 cases of high risk of T21,38 cases of Down syndrome babies,with a positive predictive value of 77.55%and a detection rate of 100%.The total cost generated by calculation strategy 4 was the lowest,about 27.44 million yuan.Conclusion NIPT can be used as primary screening test instead of serological screening method in prenatal Down’s screening for secondary prevention and control of birth defects,which has great social and economic benefits.

关 键 词：唐氏综合征 无创产前筛查 血清学筛查 卫生经济学评估 

分 类 号：R714.5[医药卫生—妇产科学] R440[医药卫生—临床医学] R1