安徽省六安市1996-2010年新生儿疾病筛查回顾性分析  

Retrospective analysis and summary of newborn disease screening between 1996 and 2010 in Liu’an municipality

作　　者：章静 

机构地区：[1]安徽省六安市妇幼保健所新生儿疾病筛查中心,237000

出　　处：《中国妇幼卫生杂志》2011年第2期80-83,共4页Chinese Journal of Women and Children Health

摘　　要：目的分析、总结六安市1996-2010年新生儿疾病筛查工作状况,进一步提高筛查质量,有效降低残疾儿的发生。方法收集六安市五县三区1996年4月至2010年9月间开展筛查项目助产机构的有效血片,统一由筛查中心进行先天性甲状腺功能低下(CH)及苯丙酮尿症(PKU)的筛查。CH检测指标为血促甲状腺激素(TSH),采用国家推荐的时间分辨荧光免疫分析法,PKU检测指标为血苯丙氨酸(Phe),先后采用国家推荐细菌抑制法和荧光法分析。结果自1996至2010年9月底,全市共筛查新生儿292951例,筛查覆盖率达90%,筛查率由1996年的2.0%提高到2010年的63.5%,共确诊CH患者116例,检出率为0.396‰;PKU26例,检出率为0.089‰。结论 1996-2010年六安市新生儿疾病筛查覆盖率、筛查率和两病确诊数呈逐年上升趋势;2006年以后逐步建立健全了新生儿疾病筛查质量保证体系,实现了对新生儿疾病筛查的全面质量管理,保障了筛查工作的健康发展,有效降低了残疾儿的发生。Objective Analysis and summary of newborn disease screening between 1996 and 2010 in Lu’an municipality to further improve the screening quality and reduce born rate of disabled children. Methods Collect the available blood slices between April 1996 and September 2010 from delivery organizations of five counties and three areas of Lu’an for screening congenital low thyroid function（CH） and benzene acetone urine disease（PKU）. CH monitoring indicators are the blood thyroid-stimulating hormone（TSH）, using the national recommended time-resolved fluorescence immunoassay analysis method. PKU testing index are the blood phenylalanine（Phe）, successively using the national recommend bacteria restrain method and fluorescence analysis method. Results 292 951 newborns were screened from 1996 to the end of September 2010, the screening coverage being above 90%, the screening rate rising from 2.0% in 1996 to 63.5 % in 2010. 116 cases were diagnosed as congenital thyroid function reduce disease , its incidence being 1/2525. 26 cases were diagnosed as benzene acetone urine disease , its incidence being 1/11 267. Conclusions The newborn screening coverage, screening rate and two disease incidence between 1996 and 2010 are increasing year by year; The newborn screening quality system has been gradually established and perfected since 2006, which helps the newborn screening quality management , ensures the healthy development of screening work and effectively reduces the birth rate of disabled children.

关 键 词：新生儿疾病筛查 苯丙酮尿症 先天性甲状腺功能减低症 

分 类 号：R722.1[医药卫生—儿科]