宝鸡地区281672例新生儿TSH、Phe筛查结果分析

Screening analysis of 281672 cases of neonatal TSH and Phe

目的分析宝鸡市新生儿疾病筛查中心2007年7月~2015年12月间新生儿筛查情况,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。方法采用时间分辨免疫荧光法（DELFIA）检测滤纸干血斑中苯丙氨酸（Phe）和TSH浓度,回顾分析PKU及CH检测情况。结果 2007年7月~2015年12月共筛查新生儿281 672例,筛查率逐年上升,2010年已达92.19%。PKU发病率为1∶3275（86/281 672）,BH4缺乏症为2.33%,CH发病率为1：2184（129/281 672）。PKU、CH发病率均高于邻近的宁夏、新疆及全国发病率。本资料对部分PKU患儿进行了突变基因分析,因检测例数少未发现新的突变,有待进一步加强该项工作,并对部分PKU患儿进行了血、尿MS/MS,GS/MS测定。结论通过新生儿筛查可做到早诊断、早治疗,避免因PKU、CH导致的智力低下,有利于提高我市出生人口质量。

Objective： We analyzed neonatal screening situation in Baoji Neonatal Screening Center from July 2007 to December 2015, thus to explore the incidence of local phenylketonuria （PKU） and congenital hypothyroidism （CH） .Methods： The concentration of phenylalanine （Phe） and TSH in dried blood spot of filter paper were detected by time-resolved fluorescence immunoassay （DELFIA） , and the detection of PKU and CH were analyzed retrospectively. Results： During the period of July 2007~December 2015, a total number of 281 672 neonates were screened, and the screening rate increased year by year, among which it reached 92.19% in 2010. The incidence of PKU, BH4 deficiency and CH was 1 ： 3275 （86/281 672） , 2.33% and 1 ： 2184 （129/281 672） , respectively. Incidence of PKU and CH were higher than that of neighboring provinces such as Ningxia, Xinjiang and the national incidence. In this paper, the mutation gene analysis was performed in some PKU children, while no new mutation was found due to fewer test cases, so the work should be further strengthened, also blood and urine MS/ MS and GS/MS were measured in some PKU patients. Conclusion： The early diagnosis and early treatment could be done through neonatal screening to avoid the mental retardation caused by CH and PKU, which is conducive to improve birth population quality in the city.