目的 总结分析北京市宣武区2003～2009年7年间新生儿疾病筛查结果及管理情况.方法 在北京市宣武区辖区内产科医院出生的活产儿均按照<北京市新生儿疾病筛查管理办法>及<北京市新生儿疾病筛查技术常规>要求进行采血,血标本统一递送到北京市新生儿疾病筛查中心进行苯丙酮尿症和先天性甲状腺功能减低症筛查.结果 2003～2009年共筛查新生儿36 391人,筛查率98.25%,苯丙酮尿症及先天性甲状腺功能减低症可疑阳性病例复查率分别为97.37%和90.24 %,总体复查率91.58%.7年来检出苯丙酮尿症3例,发病率0.082‰;先天性甲状腺功能减低症10例,发病率0.275‰.结论 继续科学规范管理,从各环节做好质量控制.%To summarize and analyze the neonatal screening results and management in 7 years, from 2003 to 2009, in Xuanwu District of Beijing. Methods All of the live births delivered in maternity hospitals of Xuanwu District underwent blood sampling according to the requirement in “Beijing Municipal Administration of newborn disease screening” and “Beijing routine neonatal screening technology”, and the blood samples were sent to Beijing Neonatal Screening Center for phenylketonuria ( PKU ) and congenital hypothyroidism ( CH ) screening. Results Altogether 36 391 newborns were screened, and the screening rate was 98.25％. The recheck rates of probable positive cases of PKU and CH were 97.37％ and 90.24％ respectively, and the total recheck rate was 91.58％. During these 7 years 3 cases of PKU were screened, with an incidence rate of 0.082％, and 10 cases of CH were screened, with an incidence rate of 0.275％. Conclusion Scientific and standardized management should be continued and ensure quality control from all links.
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