64997例新生儿疾病筛查回顾性分析

A retrospective analysis of newborn screening in 64 997 cases

目的:总结分析北京市丰台区2000～2007年新生儿疾病筛查结果。方法:所有在北京市丰台区出生的活产新生儿均按照卫生部《新生儿疾病筛查技术规范》进行采血,统一递送北京市新生儿疾病筛查中心进行CH和PKU的检测。结果:2000～2007年共筛查新生儿64 997例,筛查率97.13%,8年来新生儿疾病筛查率逐年提高;检出CH 18例,患病率0.28‰,与全球及我国主要城市地区发病率水平相当;PKU 6例,患病率0.092‰,与我国大部分地区水平一致。结论:加强管理,努力提高新生儿疾病筛查率,提高可疑病例复查率。

Objective：To summarize and analyse the results of newborn screening from 2000 to 2007 in Fengtai District.Methods：All of the newborns in Fengtai District were sampled heel blood,then the samples were delivered to Beijing Neonatal Screening Centre.Neonatal phenylketonuria（PKU） and congenital hypothyroidism（CH） screening were performed.Results：A total of 64 997 neonates were screened during 2000～2007 with a coverage of 97.13%.The neonatal screening rate was increasing year by year.18 cases of CH were confirmed in the program,the incidence was 0.28‰.6 cases were confirmed as PKU patients,the incidence was 0.092‰.Conclusion：In order to raise the neonatal screening rate and the rate of rechecked,management and strict quality-control should be strengthened.