陕西省陇县2007年～2013年新生儿TSH、Phe筛查结果分析

Analysis of neonatal TSH and Phe in Longxian of Shaaxi Province from 2007 to 2013

目的 分析陇县新生儿苯丙酮尿症（PKU）及先天性甲状腺功能减低症（CH）的发病情况。方法 2007-2013年宝鸡市新生儿筛查中心应用DELFIA法对新生儿滤纸干血斑进行Phe及TSH检测分析CH及PKU发病情况。结果 2007-2013年共筛查新生儿18 269人,2013年筛查率已达97.1%。经筛查共确诊CH5人,发病率为1：3654;PKU6人,发病率为1：3128。结论通过新生儿筛查工作,了解我县CH、PKU发病情况,为干预措施及减低残疾儿发生和提高出生人口素质有积极意义。

Objective： Analysis of neonatal phenylketonuria （PKU） and congenital hypothyr-oidism （CH） incidence in Longxian. Methods： Using DELFIA method to detect Phe and TSH concen-trations in neonates with dried blood specimen, in order to analysis the incidence of neonatal with CH and PKU.Inspections in Neonatal screening center in Baoji city did this work from 2007 to 2013. Results： From 2007 to 2013, 18 269 neonates were screened, the screening rate reached 97.1% in 2013.5 cases were confirmed CH, the incidence rate was 1：3654; 6 cases were PKU, the incidence rate was 1：3128. Conclusions： Through the newborn screening, to know CH, PKU incidence in Longxian, and further to intervene development of disease and reduce the numbers of disabled children, It has positive significance and improve population quality.