北京市20年新生儿疾病筛查回顾性分析  

Neonatal screening for congenital hypothyroidism and phenylketonuria in Beijing:1989 to 2009

作　　者：孔元原[1,2] 张玉敏[1,2] 裘蕾[1,2] 杨海河[1,2] 王洁[1,2] 封卓[1,2] 

机构地区：[1]首都医科大学附属北京妇产医院 [2]北京妇幼保健院新生儿疾病筛查管理科,100026

出　　处：《中国新生儿科杂志》2011年第2期87-90,共4页Chinese Journal of Neonatology

摘　　要：目的分析北京市1989—2009年新生儿先天性甲状腺功能减退症(CH)和苯丙酮尿症(PKU)的筛查结果,为进一步提高新生儿疾病筛查的管理水平及干预措施提供依据。方法 采集出生72h后、正常哺乳的新生儿足跟血于特定滤纸上,进行CH及PKU筛查。PKU筛查检测指标为血苯丙氨酸(Phe)浓度,分别采用细菌抑制法(1989—2003年)和荧光法(2004—2009年);CH筛查检测指标为血促甲状腺激素(TSH)水平,分别采用放免法(1989—2003年)及时间分辨荧光免疫分析法(DELFIA)(2003—2009年)。结果 1989—2009年,北京市共筛查新生儿1745998名,筛查率由1989年的14.01%提高到2009年98.16%,可疑患儿复诊率由1991年的65.85%提高到2009年的92.18%,共确诊CH482例,发病率1:3622;PKU192例,发病率1:9094。结论 新生儿疾病筛查是包括管理、筛查、随访、诊治、评估、教育等多个环节的系统服务工程,各部门的协调配合是提高筛查管理质量的有效措施,完善的新生儿疾病筛查工作可有效降低残疾儿的发生。Objective To present the results of the Beijing neonatal screening program for congenital hypothyroidism（CH） and Phenylketonuria（PKU） from 1989 to 2009 with a view to further improve the quality in the management of neonatal screening.Methods Blood samples taken from the heel of the 3-day old neonates for CH and PKU screening.Phenylalanine were detected by acterial inhibition assay（1989-2003 year） or fluorimetric method（2004-2009 year） to screen for PKU.CH was screened by TSH measurement by RIA（1989-2003 year） or time-resolved fluorescence immunoassay（2003-2009 year）.Results From 1989 to 2009,a total of 1745998 neonates were screened.The screening coverage for all newborns increased from 14.01% in 1989 to 98.16% in 2009.The referral rate of newborns suspected to have CH or PKU increased from 65.85% in 1991 to 92.18% in 2009.There were 482 positive CH cases and the incidence is 1∶3622.192 cases were confirmed PKU and the incidence is 1∶9094.Conclusions Neonatal screening provides a systemic servicesa including management,screening,follow-up,treatment,assessment,education and others.Multi-link and multi-sectoral effective coordination can improve the quality of management in neonatal screening.The prevalence of mental retardation can then be reduced by neonatal screening.

关 键 词：新生儿筛查 先天性甲状腺功能减退症 苯丙酮尿症 

分 类 号：R722.1[医药卫生—儿科]