新生儿先天性甲状腺功能低下症筛查实验的应用价值探讨

The evaluatious of screen experiment of neonatal congenital hypothyroidism

目的探讨新生儿先天性甲状腺功能低下症（CH）筛查实验与确诊阳性的内在联系及差异。方法采用ELISA进行筛查实验,测定新生儿出生72 h后采集的滤纸干血片中的促甲状腺素（TSH）含量;用化学发光法进行确诊实验,测定筛查实验阳性的新生儿静脉血中TSH、游离三碘甲腺原氨酸（FT3）、游离甲状腺素（FT4）含量,同时对初次筛查阳性的新生儿进行第二次筛查。结果154 342例新生儿初次筛查TSH阳性958例,确诊CH 102例,初次确诊率为10．65%;初次筛查阳性的新生儿经第二次筛查实验,仍为阳性者171例,转为阴性者787例,转阴的787例新生儿中无一例为CH,第二次筛查阳性的171例新生儿中确诊CH 102例,确诊率为59．65%;在确诊102例CH患儿中,初次筛查TSH值在0～19．49、19．50～19．99、20．00～29．99、30．00～49．99、50．00～99．99、100．00～mlU/L者分别为0、1、16、15、15、55例,占比例分别为0、0．98%、15．69%、14．71%、14．71%、53．92%;102例CH患儿第二次筛查TSH值升高者85例（83．33%）,降低者4例（3．92%）,无明显变化者13例（12．75%）。结论两次TSH筛查可提高新生儿先天性甲状腺功能低下症的确诊率,TSH值的变化可作为诊断的重要参考依据。

Objective To explore the reciprocal relation between the screen of neonatal congenital hypothyroidism（CH） and confirmed positive. Methods ELISA was carried out to assay human thyroid stimulating hormone （TSH） in blood specimens dried on filter paper collected after 72 hours after the new babies were born. The confirmation experiment were carried out in chemical luminiferous way. The TSH, FT3, FT4 were assayed, in the venous blood of the newborn who were positive in the screen. Meanwhile, the secondary screen was carried out for the newborn who were positive in the first time. Results 958 cases were TSH positive in 154342 cases of neonatal primary screen, 102 cases were confirmed as CH,the primary confirmation rate was 10.65 percent;Among the newborn who were primary screened the second time, 171 cases were sull positive. Among 787 cases changed into negative, no one case was CH in the 787 cases,of the newborn 102 cases were confirmed as CH in the 171 cases who were positive, in the second screen, the confirmation rate was 59.65 percent. In the confirmed 102 cases of CH, the primary screen TSH value 0-19. 49 ,19 50-19.99,20.00-29.99,30.00--49.99,50.00--99.99,100.00-mlU/L was respectively 0 case, 1 case, 16 cases, 15 cases, 15 cases,55 cases, the ratio was respectively 0,0.98 percent, 15.69 percent, 14.71% percent, 14.71% percent, 53.92 % percent; In the second screen, the rising TSH value ratio was 85 cases（83.33 % ）, the decreasing was 4 cases （3.92 % ）, 13 cases （ 12.75 % ） has no obvious change. Conclusion Twice TSH screen can improve the confirmation rate of neonatal CH, the change of TSH value can be the important diagnostic basis.