新疆地区45499例新生儿先天性甲状腺功能低下筛查分析

Analysis on the results of 45 499 neonates screening for congenital hypothyroidism in Xinjiang.

目的探讨新疆地区新生儿先天性甲状腺功能低下症(CH)的发病情况,以便做到早确诊、早治疗。方法新生儿出生后72h,采足跟血,制成干血滤纸片,用时间荧光分辨法检测干血片中促甲状腺素(TSH)的水平,TSH≥9μU/ml为阳性,阳性病人召回采静脉血,用化学发光法测甲功五项(TSH、FT3、FT4、T3、T4浓度)而确诊。确诊患儿立即口服甲状腺素片或优甲乐进行治疗并定期监测其体格和智力发育情况。结果自2003年1月至2010年12月共筛查45499例新生儿,确诊31例,检出率为1/1468,明显高于全国平均水平。结论新生儿促甲状腺功能低下症的筛查和治疗,是减少出生缺陷,提高人口素质的重要措施。

Objective： To explore the screening and treatment effect of congenital hypothyroidism（CH） in Xinjiang.Methods： Plantar blood was collected from the exterior or interior part in the heel and trickled on to the specialized filter paper.The blood levels of Thyroid Stimulating Hormone（TSH） was detected by DELFIA method and CH was diagnosed by the TSH concentration.The test results were regarded as positive when TSH9μU/ml,and great majority positive cases were called back to test veinal blood levels of TSH,FT3,FT4,T3,T4 for diagnosis.CH had been treated by early and measured physical development and intellectual development in regularly.Results： 45 499 infants were screened from Jan 2003 to Dec 2010.In total 31 patients with CH were diagnosed and then treated,the CH morbidity rate was 1/1468,which was higher than the national average.Conclusion： Newborn screening is an important approach to early diagnosis and treatment of CH,and it can reduce the occurrence of birth defects and enhance the quality of population.