摘要
目的 探讨河北省无创产前基因筛查模式的建立,评估其对染色体非整倍体出生缺陷的防控效果。方法 河北省卫生健康委员会组织成立项目工作领导组和技术专家组,于2019年7月实施无创产前基因筛查民生项目(简称NIPT民生项目),构建了政府主导、孕妇免费及全省覆盖的无创产前基因筛查模式。河北省辖区内符合条件的孕妇免费享受NIPT检测,对染色体非整倍体进行筛查,高风险孕妇接受后续遗传咨询、产前诊断及生育指导,低风险孕妇进行妊娠结局随访。结果 共筛查908 426例孕妇,全省筛查覆盖率为75.20%,检出染色体非整倍体高风险4 605例(阳性率为0.51%),其中目标三体(21-三体、18-三体及13-三体)高风险1 756例(阳性率为0.19%),经产前诊断确诊目标三体871例,检测灵敏度、特异度及阳性预测值分别为99.43%、99.96%及70.41%。NIPT民生项目开展前(2018年)河北省唐氏综合征活产率为0.73/万,民生项目开展后逐年下降,2021年下降为0.13/万,防控效果显著。受检孕妇对项目的满意度很高,对医生宣教的满意度为96.4%,对检测服务的满意度为96.0%。结论 NIPT可以作为一线普筛技术用于染色体非整倍体出生缺陷的筛查,对唐氏综合征的防控效果显著,河北省全省覆盖无创产前基因筛查模式值得其他地区借鉴和推广。
Objective To explore the establishment of non-invasive prenatal genetic screening model in Hebei province, and evaluate its prevention and control effect on chromosomal aneuploidy birth defects.Methods A leadership group and expert group was established by the Health Commission of Hebei province, and carried out non-invasive prenatal testing(NIPT) public project since July 2019,which constructed the government-led, subject-free and province-wide non-invasive prenatal genetic screening model.Eligible pregnant women in Hebei province are entitled to NIPT testing and aneuploid screening for free.High-risk pregnant women received follow-up genetic counseling, prenatal diagnosis and fertility guidance, and low-risk pregnant women were recorded pregnancy outcomes.Results A total of 908 426 pregnant women were screened, and the screening coverage rate of the whole province was 75.20%.4 605 cases(0.51%) were detected as high risk of chromosome aneuploidy, among which 1 756 cases(0.19%) were high risk of target trisomy(trisomy 21,trisomy 18,trisomy 13),871 cases were diagnosed by prenatal diagnosis.The sensitivity, specificity and positive predictive value were 99.43%,99.96% and 70.41%,respectively.The live birth rate of Down syndrome in Hebei province was 0.73/10 000 before the implementation of NIPT project(2018),and decreased gradually after the implementation of the project.In 2021 the rate was 0.13/10 000,which indicates a significant prevention and control effect.The pregnant women had high satisfaction with the project, 96.4% of the satisfaction with the doctor’s education and 96.0% of the satisfaction with the testing service.Conclusion NIPT should be used as first-line screening technology for the screening of chromosomal aneuploidy, and has a significant effect on the prevention and control of Down syndrome.The whole-coverage Non-invasive prenatal genetic screening model in Hebei province is worth referring and popularizing in other regions.
作者
刘静
何思捷
唐龙妹
赵建宏
郝桂敏
尹琳微
王云芳
王顺尧
张建国
赵立见
高健
LIU Jing;HE Si-Jie;TANG Long-Mei(Hebei Center for Women and Children's Health,Shijiazhuang,Hebei 050031,China)
出处
《中国妇幼保健》
CAS
2022年第22期4105-4110,共6页
Maternal and Child Health Care of China
基金
河北省政府资助专科带头人培养项目(2018674)
河北省重点研发计划项目(21377720D)。
关键词
无创产前基因检测
染色体非整倍体
河北省无创产前基因筛查模式
出生缺陷防控
Non-invasive prenatal testing
Chromosome aneuploidy
Non-invasive prenatal genetic screening model of Hebei
Birth defects prevention and control
