摘要
目的总结通过信息平台,提高出生缺陷防控水平的经验和挑战。方法回顾性总结系统中出生缺陷三级预防措施落实,沿胎儿生命周期获取功能和代谢障碍缺陷个案的数据并进行总结分析。结果平台促进了出生缺陷三级预防措施落实。系统包括11912例有遗传病或缺陷儿家族史的孕妇信息,433例染色体和基因异常胎儿产前诊断记录,7977例结构、功能和代谢障碍儿的体检记录,1266例听力障碍儿;553例苯丙酮尿症儿,2627例先天性甲低代谢障碍儿,并提供随访等技术支持。结论通过信息技术,实现河南省内母代和子代信息互连,建成了出生缺陷从医院监测发展为人群监测的省级平台。
Objective To summarize the experience and challenges of improving the level of birth defects prevention and control through information platform.Method A retrospective review was made of the implementation of three-level prevention measures for birth defects,and the data of individual cases with functional and metabolic disorders along the fetal life cycle were obtained and analyzed.Result The platform promoted the implementation of three-level prevention measures for birth defects.The system included11,912 pregnant women with family history of genetic disease or defective children,433 prenatal diagnosis records of abnormal fetus with chromosome and gene,physical examination records of 7,977 children with structural,functional and metabolic disorders,1,266 hearing impaired children,553 phenylketonuria children,2,627 congenital hypothyroid children.The system provideed follow-up and other technical support.Conclusion Through information technology,the information of mothers and offsprings in Henan province is interconnected,and a provincial platform for birth defects monitoring is built from hospital monitoring to population monitoring.
作者
赵悦淑
王梦玲
王蕊
张小安
王军
崔世红
杨华
单亮
ZHAO Yue Shu;WANG Meng Ling;WANG Rui;ZHANG Xiao'an;WANG Jun;CUI Shi Hong;YANG Hua;SHAN Liang(The Third Affiliated Hospital of Zhengzhou University,Zhengzhou 450052,China;Pengcheng Laboratory,Shenzhen 518000,China)
出处
《中国妇幼卫生杂志》
2021年第1期68-73,共6页
Chinese Journal of Women and Children Health
基金
2018年河南省医学科技攻关计划省部共建项目—《河南省出生缺陷防控信息平台的建设及大数据应用项目》(SBGJ2018048)。
关键词
出生缺陷
信息平台
人群监测
代谢障碍
功能障碍
birth defects
information platform
population monitoring
metabolic disorders
dysfunction
