期刊论文

Zhou, L.;Liu, J.

中文

中华医学遗传学杂志

1003-9406

2022

39

3

257-263

10.3760/cma.j.cn511374-20210512-00403

湖南省自然科学基金(2019JJ50681)。

本校为第一且通讯机构

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149 165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149 165例NIPT检测, 成功148 749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148 538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（positiv...

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 149 165 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 149 165 pregnant women and succeeded in 148 749 cases (99.72%), for whi...