吉安市无创产前非整倍体染色体病防控模式筛查结果及效益的综合评估  

Comprehensive evaluation of screening result and efficiency of non-invasive prenatal aneuploid chromosome disease prevention and control mode in Ji’an City

作　　者：肖婕[1] 陈建辉[1] 余艳婷[1] 谭志雄 张宝庆 张文明 周希 XIAO Jie;CHEN Jian-Hui;YU Yan-Ting(Ji'an Municipal Maternal and Child Health Care Hospital,Ji'an,Jiangxi 343000,China)

机构地区：[1]吉安市妇幼保健院,江西吉安343000

出　　处：《中国妇幼保健》2022年第9期1695-1700,共6页Maternal and Child Health Care of China

基　　金：江西省卫生健康委员会科技计划项目(20194084)。

摘　　要：目的 评估吉安市无创产前非整倍体染色体病防控模式的筛查结果和效益,构建符合当地的综合防控模式。方法 利用无创产前筛查技术对吉安市产前筛查机构内符合条件的孕妇进行非整倍体染色体病筛查。对高风险人群进行遗传咨询、产前诊断及阳性干预服务,对筛查者追踪随访至婴儿出生。结果 共筛查92 668名孕妇,全市筛查覆盖率为75.85%,追踪随访率为95.10%,非整倍体染色体病总发病率为5.61‰,其中21-三体综合征、18-三体综合征及13-三体综合征的阳性预测值分别为90.17%、84.31%及57.57%。35岁以上孕妇的非整倍体染色体病发病率明显高于适龄孕妇,筛查所需费用为15.86万元/例。结论 吉安市胎儿染色体非整倍体疾病发病无地域差异,与孕妇年龄呈正相关。无创产前筛查对非整倍体染色体病的灵敏度高、特异度强,有效降低了出生缺陷风险和致残率,提高了吉安市出生人口素质,值得大规模推广。Objective To evaluate the screening result and efficiency of non-invasive prenatal aneuploid chromosome disease prevention and control mode in Ji’an City, build a comprehensive prevention and control model suitable for the local area. Methods Non-invasive prenatal screening of aneuploid chromosome diseases was performed among the pregnant women meeting the inclusion criteria in prenatal screening institute in Ji’an City, genetic counseling, prenatal diagnosis, and intervention service of positive cases were conducted among the high-risk population, the cases were followed up till birth of infants. Results A total of 92 668 pregnant women were screened, the screening coverage rate was 75.85%, the follow-up rate was 95.10%, the total incidence rate of aneuploid chromosome diseases was 5.61‰, the positive predictive values of trisomy 21 syndrome, trisomy 18 syndrome, and trisomy 13 syndrome were 90.17%, 84.31%, and 57.57%, respectively. The incidence rate of aneuploid chromosome diseases in pregnant women more than 35 years old was significantly higher than that in the pregnant women of childbearing age, the cost of screening was 158 600 Yuan per case. Conclusion There is no regional difference in the incidence rate of aneuploid chromosome diseases in Ji’an City, but it is positively correlated with the age of pregnant women. The sensitivity and specificity of non-invasive prenatal screening for aneuploid chromosome diseases are high, non-invasive prenatal screening effectively reduces the risk of birth defects and disability rate, improves the quality of birth population, which is worthy of large-scale promotion.

关 键 词：非整倍体染色体病 无创产前筛查 防控模式 

分 类 号：R715[医药卫生—妇产科学]