摘要
目的：分析宝鸡市渭滨区新生儿筛查结果,探讨当地苯丙酮尿症（PKU）及先天性甲状腺功能减低症（CH）的发病情况。方法：对2007年2月～2014年12月所采集辖区内71771例新生儿滤纸干血斑,由市筛查中心采用时间分辨荧光分析法（Tr-FIA）检测干血斑中TSH和Phe浓度,分析PKU和CH检出情况。结果：8年间共检出CH患儿22人（男童7人女童15人）,发病率为1：3262;PKU5人,发病率为1：14354。PKU各年份检出率差异显著。CH、PKU水平均高于全国及陕西省发病率。结论：为新生儿筛查疾病提供了本底资料,通过筛查可以做到早诊断、早治疗,避免因PKU、CH导致终生残疾,有利于提高出生人口质量。
Objective： By analysing the results of newborn screening in Weibin District of Baoji City,to explore the incidence of phenylketonuria（ PKU） and congenital hypothyroidism（ CH） in this area. Methods： From February 2007 to December 2014,71771 cases of newborns were collected to take filter paper dried blood spots,all the cases were born in Weibin District. Specimens were sent to the city screening center,time- resolved fluoroimmunoassay was used to detect concentrations of TSH and Phe. Retrospective analysis in detection of PKU and CH. Results： 22 cases（ 15 boys and 7 girls） of CH were detect,which incidence rate was 1： 3262; 5 cases of PKU were detect,which incidence rate was 1： 14354. But detection rate of PKU were significantly different each year. The incidence of CH and PKU were higher than national average rate and Shaanxi Province rate. Conclusion： By analysing the results of newborn screening in Weibin District,to provides background information on the disease. More importantly,by neonatal screening,the disease can be early diagnosis and early treatment,and to avoid lifelong disability,which will help to improve the quality of births.
出处
《微量元素与健康研究》
CAS
2016年第6期19-20,共2页
Studies of Trace Elements and Health
