渭南地区先天性甲状腺功能减低症新生儿筛查和早期诊断

目的：总结与分析渭南地区先天性甲状腺功能减低症（C H ）新生儿筛查结果与早期诊断特点。方法回顾性分析2010年8月至2013年10月于渭南市新生儿疾病筛查中心进行新生儿C H筛查与诊断的资料。结果共筛查新生儿标本71084例，确诊C H患儿45例，发病率为0．633‰，患儿的临床表现以病理性黄疸为主（51．11％），促甲状腺激素（TSH）≥32 mIU/L患儿占62．22％；经Pearson相关性分析后，四碘甲状腺原氨酸（T4）、游离甲状腺素T4（FT4）与CH患儿婴幼儿智力发育测试总分、精细运动以及适应性等均呈正相关关系（P＜0．05）。结论渭南地区新生儿先天性甲状腺功能减低症的发病率较高，开展新生儿疾病筛查工作，有利于该类患儿的早期诊断与治疗，值得推广与完善。

Analysis of neonatal congenital hypothyroidism screening and early diagnosis in Weinan area

Objective To summarize and analyze neonatal congenital hypothyroidism （CH ） screening and the characteristics of early diagnosis in Weinan area .Methods The neonatal congenital hypothyroidism （CH） screening and diagnosis data in Weinan neonatal disease screening center were analyzed retrospectively from August 2010 to October 2013 .Results A total of 71 084 neonates were screened for CH ,45 cases of CH were confirmed with an av-erage incidence rate 0 .633‰ .Pathological jaundice was the major clinical manifestations of children （51 .11% ） ,and the children with thyroid stimulating hormone（TSH）≥32 mIUL were accounted for 62 .22% .After the Pearson cor-relation analysis ,The T4 ,FT4 levels were positively correlated with the CDCC scores ,adaptation IQ and fine motor skill IQ（P〈0 .05） .Conclusion The incidence rate of neonatal congenital hypothyroidism in Weinan area is higher , Neonatal disease screening is conducive to the early diagnosis and treatment of these patients ,it is worth of improving and popularizing .