Wang Dongbo, He Jun, Ma Yuting, Xi Hui, Zhang Meng, Huang Haixia, Rao Lijuan, Zhang Binbin, Mi Chunmei, Zhou Bo, Liao Zhehui, Dai Lei, Ouyang Xinyu, Zhang Yang, Wang Haiyan, Wang Xin, Zhang Zhaohui, Yao Sui, Tan Zhenyu, Yang Jing, Zhong Wei, Wang Nan, Liu Jiyang, Zhou Liangrong
Changsha Maternal and Child Health Hospital, Changsha, Hunan 410007, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Mar 10;39(3):257-263. doi: 10.3760/cma.j.cn511374-20210512-00403.
To assess the practical and health economical values of non-invasive prenatal test (NIPT) in Changsha Municipal Public Welfare Program.
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.
NIPT was carried out for 149 165 pregnant women and succeeded in 148 749 cases (99.72%), for which outcome were available in 148 538 (99.86%). 90% of pregnant women from the region accepted the screening with NIPT. 415 (0.27%) were diagnosed as high risk. Among these, 381 (91.81%) accepted amniocentesis, which led to the diagnosis of 212 cases of trisomy 21 (PPV=85.14%), 41 cases with trisomy 18 (PPV=48.81%) and 10 cases with trisomy 13 (PPV=20.83%). The sensitivity and specificity of NIPT for trisomy 21, trisomy 18 and trisomy 13 were (97.70%, 99.98%), (97.62%, 9.97%) and (100%, 99.97%), respectively. In addition, 213 and 30 cases were diagnosed with sex chromosomal aneuploidies (PPV=46.2%) and other autosomal anomalies (PPV=16.57%), respectively. For Down syndrome screening, the cost and benefit of the project was 120.79 million yuan and 1,056.95 million yuan, respectively. The cost-benefit ratio was 1: 8.75, and safety index was 0.0035.
NIPT is a highly accurate screening test for trisomy 21, which was followed by trisomy 18 and sex chromosomal aneuploidies, while it was less accurate for other autosomal aneuploidies. The application of NIPT screening has a high health economical value.
评估无创产前检测（NIPT）在长沙市公益项目中的实用性和健康经济学价值。
对2018年4月9日至2019年12月31日期间接受NIPT检测的149165名妇女进行回顾性分析。对高危孕妇进行侵入性产前诊断并随访妊娠结局。分析NIPT对唐氏综合征的成本效益。
对149165名孕妇进行了NIPT检测，成功148749例（99.72%），其中148538例（99.86%）有结局。该地区90%的孕妇接受了NIPT筛查。415例（0.27%）被诊断为高危。其中，381例（91.81%）接受了羊水穿刺，诊断出212例21三体综合征（PPV=85.14%）、41例18三体综合征（PPV=48.81%）和10例13三体综合征（PPV=20.83%）。NIPT对21三体综合征、18三体综合征和13三体综合征的敏感性和特异性分别为（97.70%，99.98%）、（97.62%，99.97%）和（100%，99.97%）。此外，分别有213例和30例被诊断为性染色体非整倍体（PPV=46.2%）和其他常染色体异常（PPV=16.57%）。对于唐氏综合征筛查，该项目的成本和效益分别为1.2079亿元和10.5695亿元。成本效益比为1:8.75，安全指数为0.0035。
NIPT是一种对21三体综合征高度准确的筛查试验，其次是18三体综合征和性染色体非整倍体，而对其他常染色体非整倍体的准确性较低。NIPT筛查的应用具有较高的健康经济学价值。
