陕西省凤翔县2007年～2013年新生儿TSH、Phe筛查结果分析

Analysis of Phe and TSH in neonatal screening from 2007 to 2013 in Fengxiang Country Shaanxi province

目的分析凤翔县2007年~2013年新生儿苯丙酮尿症（PKU）及先天性甲状腺功能减低症（CH）的发病情况。方法 2007年~2013年共采集新生儿末梢血干血斑标本23 344例,按要求送市新筛中心,应用DELFIA法对血标本进行TSH、Phe检测分析,以了解CH及PKU发病情况。结果 7年筛查新生儿23 344例,确诊CH13例（男性8人,女性5人）,发病率1∶1796,PKU7例（男性4人,女性3人）,发病率1∶3335。结论通过新生儿筛查表明,凤翔县CH、PKU发病率均高于全国水平,为制定卫生保健规划提供了本底资料,并提示保健部门应对患儿加强健康教育和落实干预措施,防止残疾儿发生,以提高我县人口素质。

Objective：Analysis of Fengxiang county from 2007 to 2013 in neonatal screening to survey phenylketonuria（PKU） andcongenital hypothyroidism（CH）incidence. Methods：23 344 neonates peripheral blood were collected in dried blood spot from 2007 ~ 2013,all samples sent to the municipal neonatal screening center,applicating of DELFIA method to detected Phe and TSH concentration,to understand the incidence of PKU and CH. Results：Screening 23 344 cases,diagnosed 13 patients with CH（male 8,female 5）,the incidence rate was 1：1796,7 cases with PKU（male 4,female 3）,the incidence rate was 1：3335. Conclusions：The results of neonatal screening showed that,the incidence rate of PKU and CH in Fengxiang county were higher than the national level,The results provide the background material for our county to develop health care planning,and prompt caredepartments strengthen the health education of children and the implementation of interventions,prevent disability children to improve the quality of the population in our county.