天津市胎儿无创产前检测的临床应用研究及卫生经济学评价  

Clinical application and evaluation of health economics for non-invasive prenatal testing of fetuses in Tian

作　　者：马瑞玉 李晓洲[1,2] 徐松 史云芳[1,2] 琚端[1,2] 李岩 孟凡荣[1,2] 王秀艳 杜欣欣[3] 徐乃伟 张颖[1,2] Ma Ruiyu;Li Xiaozhou;Xu Song;Shi Yunfang;Ju Duan;Li Yan;Meng Fanrong;Wang Xiuyan;Du Xinxin;Xu Naiwei;Zhang Ying(Department of Gynecology and Obstetrics,General Hospital of Tianjin Medical University,Tianjin300052,China;Tianjin Key Laboratory of Female Reproductive Health and Birth Health,Tianjin 300052,China;Operation Management Office,General Hospital of Tianjin Medical University,Tianjin300052,China)

机构地区：[1]天津医科大学总医院妇产科,天津300052 [2]天津市女性生殖健康与优生重点实验室,天津300052 [3]天津医科大学总医院运营管理处,天津300052

出　　处：《中华医学遗传学杂志》2023年第2期135-142,共8页Chinese Journal of Medical Genetics

基　　金：天津市卫生健康科技项目(RK20008);天津医科大学总医院青年孵育基金(ZYYFY2017025、ZYYFY2019022);天津市医学重点学科(专科)建设项目资助(TJYXZDXK-031A)。

摘　　要：目的探讨无创产前检测(NIPT)技术应用于胎儿常见染色体非整倍体产前筛查的临床应用效能及卫生经济学价值。方法选取2017年10月至2019年12月于天津医科大学总医院产前筛查门诊就诊的10612例孕妇为研究对象。回顾性分析受试者的NIPT检测结果、后续产前诊断及随访结局,同时选取先后两个时间段内的NIPT检测数据,评估其作为二线/一线筛查手段对于诊断胎儿21、18、13三体综合征的卫生经济学效益。结果NIPT检测成功率为99.72%,混合风险人群胎儿21、18、13三体综合征筛查灵敏度分别为100%、92.86%、100%,阳性预测值(PPV)分别为89.74%、61.90%、44.44%,NIPT对性染色体非整倍体(SCA)的PPV为34.21%。除18三体综合征出现1例假阴性,21三体综合征、13三体综合征、性染色体及其他常染色体异常阴性预测值均达100%。血清学筛查高风险、高龄及合并胎儿超声软指标异常的孕妇,其NIPT检测高危率明显升高,NIPT检测的PPV在各人群亚组间无统计学差异。2017年至2019年,NIPT作为传统筛查的二线筛查具有较高的卫生经济学效益,但其作为一线筛查的增量成本-效果比与2015年至2017年相比有所下降。结论NIPT对于混合风险人群21、18、13三体综合征的筛查效能明显优于传统血清学筛查,对于性染色体异常的筛查效能相对较低。对于某些高风险人群,在进行充分检测前/后遗传咨询的情况下,NIPT也可作为优选筛查方案。从卫生经济学角度来看,随着检测成本的不断降低,除外筛查开放性神经管缺陷,NIPT将有可能取代传统血清学筛查。Objective To assess the clinical efficacy and health economic value of non-invasive prenatal testing(NIPT)for the prenatal screening of common fetal chromosomal aneuploidies.Methods 10612 pregnant women from October 2017 to December 2019 presented at the antenatal screening clinic of the General Hospital of Tianjin Medical University were selected as the study subjects.Results of NIPT and invasive prenatal diagnosis and follow-up outcome for the 10612 pregnant women were retrospectively analyzed and compared.Meanwhile,NIPT data for two periods were analyzed for assessing the health economic value of NIPT as the second-or first-tier screening strategy for the prenatal diagnosis of fetal trisomies 21,18 and 13.Results The NIPT was successful in 10582(99.72%)subjects,with the sensitivity for fetal trisomies 21,18 and 13 being 100%,92.86%and 100%,and the positive predictive value(PPV)being 89.74%,61.90%and 44.44%,respectively.The PPV of NIPT for sex chromosome aneuploidies was 34.21%.Except for one false negative case of trisomy 18,the negative predictive value for trisomy 21,trisomy 13 and other chromosomal abnormalities were 100%.For pregnant women with high risk by serological screening,advanced maternal age or abnormal ultrasound soft markers,NIPT has yielded a significantly increased high risk ratio.There was no statistical difference in the PPV of NIPT among pregnant women from each subgroup.NIPT would have higher health economic value as a second-tier screening until 2019,while compared to 2015~2017,its incremental cost-effectiveness ratio as a first-tier screening had declined clearly.Conclusion The screening efficacy of NIPT for trisomies 21,18 and 13 for a mixed population is significantly better than conventional serological screening,but it is relatively low for sex chromosomal abnormalities.NIPT can also be recommended for populations with relatively high risks along with detailed pre-and post-test genetic counselling.From the perspective of health economics,except for open neural tube defects,it is poss

关 键 词：无创产前检测 染色体非整倍体 产前筛查 产前诊断 卫生经济学 

分 类 号：R714.5[医药卫生—妇产科学] R1[医药卫生—临床医学]