64997例新生儿疾病筛查回顾性分析

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。

A retrospective analysis of newborn screening in 64 997 cases

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.