<strong>Combined genetic screening and traditional newborn screening to improve the screening efficiency of congenital hypothyroidism</strong>

Congenital hypothyroidism (CH) is an neonatal endocrine disorder. Traditional newborn screening is the mainstream method of CH screening, so as to ensure the early detection and treatment of CH. This method is limited as it has high rates of false positives and negatives. Genetic screening can be used to address the shortcomings of traditional newborn Screening (NBS); however, the comprehensive clinical value of genetic screening is yet to be systematically studied.

先天性甲状腺功能减退症（Congenital hypothyroidism, CH）属于新生儿内分泌疾病。传统新生儿筛查是先天性甲状腺功能减退症筛查的主流方案，可实现该病的早发现、早治疗。但该方法存在假阳性与假阴性率偏高的局限。基因筛查可用于弥补传统新生儿筛查（Newborn Screening, NBS）的不足；然而，基因筛查的综合临床价值仍有待系统研究。