The process of screening newborns for congenital disorders is important for the early detection and treatment of multiple medical conditions. Congenital hypothyroidism and congenital adrenal hyperplasia are two endocrine disorders evaluated on all newborn screens. Early treatment of these conditions can prevent intellectual disability and life-threatening adrenal crisis. False positive and false negative results may occur for both conditions and it is important to understand common factors that can alter screening results. In addition, screening protocols vary among states and awareness of testing protocols may assist with interpretation of abnormal results. Improvement in assay sensitivity and adjustments to reference ranges have altered the detection of both conditions. All abnormal newborn screen results need to be further evaluated with confirmatory testing to establish a diagnosis.

对新生儿进行先天性疾病筛查的过程对于多种疾病的早期发现和治疗很重要。先天性甲状腺功能减退症和先天性肾上腺皮质增生是在所有新生儿筛查中评估的两种内分泌疾病。早期治疗这些疾病可以预防智力残疾和威胁生命的肾上腺危机。两种情况下均可能出现假阳性和假阴性结果，因此了解可能会改变筛选结果的常见因素非常重要。另外，筛选方案在各州之间也不同，并且对测试方案的了解可能有助于解释异常结果。测定灵敏度的提高和对参考范围的调整已经改变了两种情况的检测。