Zheng Lin, Yin Nuolan, Wang Meiying, Huang Hailong, Zhang Shuyu, Su Linjuan, Xu Liangpu
Department of Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital, School of Public Health, Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou, 350001, Fujian, China.
Department of School of Public Health, Fujian Medical University, Fuzhou, 350122, Fujian, China.
Sci Rep. 2025 Jul 4;15(1):23940. doi: 10.1038/s41598-025-08592-0.
To compare the performance of first-trimester serum screening (FTSS) and non-invasive prenatal testing (NIPT) in detecting fetal chromosomal aneuploidies trisomy 21 (T21) and trisomy 18 (T18), and to evaluate the cost-effectiveness and clinical feasibility of four screening strategies for the prevention of Down syndrome (DS) from a health economics perspective. This retrospective study included 33,559 pregnant women who underwent DS screening at Fujian Maternity and Child Health Hospital between February 25, 2022, and December 29, 2023. Participants were divided into an FTSS group (n = 23,136) and an NIPT group (n = 10,423) based on the type of screening received. All subjects were followed for eight months postpartum to collect pregnancy outcome data. Screening performance was compared between the two groups based on prenatal diagnostic results. Subsequently, four screening strategies were constructed and assessed using cost-effectiveness analysis and NIPT price sensitivity analysis to determine their health-economic value. A comparison of screening performance between the two groups showed that NIPT had significantly higher specificity (99.96%) and positive predictive value (55.56%) than FTSS (specificity: 92.93%, positive predictive value: 0.91%). Meanwhile, the false-positive rate of NIPT (0.04%) was notably lower than that of FTSS (7.07%). Cost-effectiveness analysis of the four strategies indicated that strategy 2 was the most cost-effective, with a cost-effectiveness ratio (CER) of 1,252,400 CNY and an incremental cost-effectiveness ratio (ICER) of -3,626,700 CNY, achieving improved screening outcomes while reducing costs. Sensitivity analysis further demonstrated that even when the screening scale expanded under strategy 4 or when NIPT prices fluctuated between 700 and 2,100 CNY, strategy 2 maintained the lowest CER. NIPT is superior to FTSS in terms of screening efficacy. Based on a health economic evaluation, among the four strategies, Strategy 2 (using NIPT as conditional screening) offers the best cost-effectiveness while improving detection efficacy, making it the optimal strategy recommended in this study.
比较孕早期血清学筛查（FTSS）和无创产前检测（NIPT）在检测胎儿染色体非整倍体21三体（T21）和18三体（T18）方面的性能，并从卫生经济学角度评估四种预防唐氏综合征（DS）筛查策略的成本效益和临床可行性。这项回顾性研究纳入了2022年2月25日至2023年12月29日期间在福建省妇幼保健院接受DS筛查的33559名孕妇。根据接受的筛查类型，参与者被分为FTSS组（n = 23136）和NIPT组（n = 10423）。所有受试者产后随访8个月以收集妊娠结局数据。根据产前诊断结果比较两组的筛查性能。随后，构建并评估了四种筛查策略，采用成本效益分析和NIPT价格敏感性分析来确定其卫生经济价值。两组筛查性能比较显示，NIPT的特异性（99.96%）和阳性预测值（55.56%）显著高于FTSS（特异性：92.93%，阳性预测值：0.91%）。同时，NIPT的假阳性率（0.04%）明显低于FTSS（7.07%）。四种策略的成本效益分析表明，策略2最具成本效益，成本效益比（CER）为1252400元人民币，增量成本效益比（ICER）为 - 3626700元人民币，在降低成本的同时实现了更好的筛查效果。敏感性分析进一步表明，即使在策略4下筛查规模扩大或NIPT价格在700至2100元人民币之间波动时，策略2仍保持最低的CER。NIPT在筛查效果方面优于FTSS。基于卫生经济评估，在四种策略中，策略2（将NIPT作为条件性筛查）在提高检测效果的同时具有最佳的成本效益，是本研究推荐的最优策略。
