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目的对大连市2012年1月至2013年12月119 638例新生儿先天性甲状腺功能低下症(CH)筛查的情况进行分析,总结可疑阳性结果的召回方式,探讨CH筛查实验和确诊实验的相关性,更好的提高新生儿筛查服务的有效性。方法采用时间分辨免疫荧光法对2012年1月至2013年12月大连市出生的新生儿进行滤纸干血片促甲状腺激素的筛查,筛查可疑阳性患儿及时召回,测定促甲状腺激素、游离甲状腺素,进行进一步诊断。召回方式根据促甲状腺激素筛查结果的数值分为低风险阳性召回和高风险阳性召回。结果本次共筛查新生儿滤纸干血片标本119 638例,确诊CH29例,高TSH血症31例,初筛阳性确诊率为28.36‰,原标本重测后确诊率为82.64‰,二次召回确诊率为82.19%,高风险阳性确诊率为85%。结论初筛可疑阳性标本经过原标本重测及复查后可有效的提高CH的确诊率。对不同阳性筛查数值的标本采取灵活的人性化的召回方式,能够及时有效的提高筛查阳性召回率和诊断效率。二次复查阳性及高风险的新生儿是CH的高危人群,也是新生儿筛查工作重点关注人群。
Objective To analyze the screening of 119 638 neonates with congenital hypothyroidism (CH) from January 2012 to December 2013 in Dalian, and to summarize the recall methods of suspicious positive results and to explore the screening and confirmatory tests of CH The relevance of better screening services to improve the effectiveness of neonatal. Methods Time-resolved immunofluorescence was used to screen the thyroid-stimulating hormone (Thyroid-stimulating hormone) screening of dry-blood filter tablets in newborns born in Dalian City from January 2012 to December 2013. The suspicious positive children were screened for timely recall and thyrotropin Thyroxine for further diagnosis. Recall methods based on thyroid hormone screening results are divided into low-risk positive recall and high-risk positive recall. Results A total of 119 638 newborn filter paper samples were collected. Thirty-two CH29 cases were confirmed, 31 cases were hypercholesterolemic. The positive rate of primary screening was 28.36 ‰. The diagnosis rate of the original specimens was 82.64 ‰, The recall rate was 82.19%, and the high-risk positive diagnosis rate was 85%. Conclusion Preliminary screening of suspected positive specimens after the original specimen retest and review can effectively improve the CH diagnosis rate. The samples with different positive screening values adopt a flexible and humane recall method, which can promptly and effectively improve the screening positive recall rate and diagnosis efficiency. The second review of positive and high-risk neonates is a high-risk group of CH, but also focus on the population of neonatal screening.