Wadsworth Center, NYS Department of Health, Albany, NY 12201-2002, USA.
Endocrinol Metab Clin North Am. 2009 Dec;38(4):827-37. doi: 10.1016/j.ecl.2009.08.005.
Congenital hypothyroidism and congenital adrenal hyperplasia are included in many newborn screening (NBS) panels worldwide and in all state-sponsored programs in the United States. Both conditions meet the fundamental prerequisites for NBS: high incidence in the population; biomarkers in the dried blood specimen that are easily detected; and, effective therapies to lessen, if not prevent, the sequelae of late or no treatment. In this review, the history of NBS is discussed for these 2 conditions. The technologies and protocols used in their detection, and related subjects such as genetics, and treatment and outcomes, are also discussed.
先天性甲状腺功能减退症和先天性肾上腺皮质增生症已被纳入全球许多新生儿筛查 (NBS) 项目以及美国所有政府资助的项目中。这两种疾病都符合 NBS 的基本前提条件：在人群中的发病率高；干血斑中的生物标志物易于检测；有效的治疗方法可以减轻甚至预防迟发或不治疗的后果。在这篇综述中，讨论了 NBS 对这两种疾病的历史。还讨论了它们的检测技术和方案，以及相关主题，如遗传学、治疗和结果。
