Leger J
Association Française pour le Dépistage et la Prévention des Maladies Métaboliques, Hôtel Dieu, Lyon, France.
Eur J Pediatr. 1990 Jun;149(9):605-7. doi: 10.1007/BF02034742.
Misdiagnosed cases of congenital-hypothyroidism (CH) during the first 9 years of the French screening program were analysed. A total of 50 cases were missed (3% of total diagnosed) which represents a severe failure of the system. Failures were caused by technical errors of sample collection or TSH assay (n = 27) or due to normal TSH (n = 22) or T4 (n = 1) concentrations in the newborn blood specimens. We conclude that screening methods should be improved and that physicians should remain alert to clinical signs of hypothyroidism.
对法国筛查项目开展的头9年中先天性甲状腺功能减退症（CH）的误诊病例进行了分析。共有50例病例被漏诊（占确诊病例总数的3%），这表明该筛查系统存在严重缺陷。漏诊是由样本采集或促甲状腺激素（TSH）检测的技术错误（27例），或新生儿血液样本中TSH水平正常（22例）或甲状腺素（T4）水平正常（1例）所致。我们得出结论，应改进筛查方法，并且医生应始终留意甲状腺功能减退症的临床体征。
