摘要
目的：分析2005年10月-2009年12月永州市新生儿先天性甲状腺功能减退症（CH）的筛查结果，总结筛查经验，指导今后的筛查工作。方法：采集新生儿足跟血，制成滤纸血片，采用时间分辨荧光分析法检测血片中TSH。初筛〉20IU／ml为阳性组，TSH浓度在9-20IU／mL之间为疑似阳性，对疑似阳性进行样本复查，复查〉9IU／mL以及初筛〉20IU／mL的新生儿召回，抽静脉血确诊，采用电化学发光法检测FT3、兀14、TSH浓度。结果：101，028例血片标本中，初筛〉20IU／mL及复查〉97IU／mL共计133例，确诊CH患儿70例，无漏筛病例；CH发病率为1／1443，明显高于国内平均发病率1／3009（u=11．28，P〈0．01）；初筛阳性组的检出率明显高于疑似阳性组的检出率，分别为1／2405及1／3608（u=5．29，P〈0．01）；复查后，疑似阳性组的阳性率比复查前显著降低，由1／83降低为1／1531（u=10．16，P〈0．01）。结论：1、永州为先天性甲状腺功能减退症的高发地区，应加强全市的新生儿筛查工作。2、对疑似阳性的样本进行血片复查可显著降低阳性召回率，并有效防止漏筛。3、检测滤纸干血片的TSH水平是CH筛查的有效措施，有助于CH患儿的早期诊治。
Objective： To analyze neonatal congenital hypothyroidism （CH） screening results of Yongzhou city from October 2005 to December 2009, summarized screening experiences to improve future work. Methods： Neonatal heel blood spots were made with filter paper, TSH levels of dried blood spots were detected by DELFIA. A positive screening was defined as TSH levels 〉 20 μ IU/MI, while a suspected positive screening was defined as TSH levels between 9-20 μ IU/mL, sample review were performed to suspected positive cases. Cases of screening positive and cases of TSH levels 〉 9 μ IU/mL after sample review were called back, drew venous-blood to test FT3,FT4 and TSH levels with electrochemiluminescence. Results： 101,028 case were screened, 133 cases were called back, of these, 70 cases of CH were confirmed, no missed case; CH prevalence was 1/1443, significantly higher than the national average prevalence （1 / 3009, u = 11.28, P 〈0.01）; Detection rate of positive group was significantly higher than that of suspected positive goup, were 1 / 2405 and 1 / 3608 respectively （u = 5.29, P 〈 0.01）; Positive rate of suspected positive group was significantly dropped after sample review, from 1 / 83 to 1 / 1531 （u = 10.16, P 〈0.01）. Conclusion： 1. CH prevalence of Yongzhou is high, so neonatal screening should be strengthened. 2. Sample review for the suspected positive cases can significantly reduce the positive recall rate, it is effective to avoid missed diagnosis. 3. CH screening by TSH test of dried blood spots is effective, it helps to diagnose and treat CH affected children early.
