Edelman Sari, Desai Hiral, Pigg Trey, Yusuf Careema, Ojodu Jelili
Association of Public Health Laboratories, Silver Spring, MD 20910, USA.
Int J Neonatal Screen. 2020 Aug 14;6(3):64. doi: 10.3390/ijns6030064.
Newborn screening (NBS) is a state-based public health program that aims to identify newborns at risk of certain disorders in the first days after birth to prevent permanent disability or death. Disorders on the Health and Human Services Federal Advisory Committee's Recommended Uniform Screening Panel (RUSP) have been adopted by most state NBS programs; however, each state mandates specific disorders to be screened and implements their own system processes. Congenital adrenal hyperplasia (CAH) was added to the RUSP in 2005, and currently all 53 NBS programs universally screen for it. This paper provides a landscape of CAH screening in the United States, utilizing data voluntarily entered by state NBS programs in the Newborn Screening Technical assistance and Evaluation Program data repository. Data reported encompasses NBS state profile data (follow-up, disorder testing and the reporting of processes and methodologies for screening), quality indicator data (timeliness of CAH NBS) and confirmed cases. This comprehensive landscape analysis compares the CAH NBS systems across the US. This is vital in ultimately ensuring that newborns with CAH at risk of salt crisis receive appropriate intervention in a timely manner.
新生儿筛查（NBS）是一项基于州的公共卫生项目，旨在在出生后的头几天识别有患某些疾病风险的新生儿，以预防永久性残疾或死亡。大多数州的新生儿筛查项目都采用了卫生与公众服务部联邦咨询委员会推荐的统一筛查 panel（RUSP）上的疾病；然而，每个州都规定了要筛查的特定疾病，并实施自己的系统流程。先天性肾上腺皮质增生症（CAH）于2005年被添加到RUSP中，目前所有53个新生儿筛查项目都普遍对其进行筛查。本文利用各州新生儿筛查项目在新生儿筛查技术援助和评估项目数据存储库中自愿输入的数据，呈现了美国先天性肾上腺皮质增生症筛查的情况。报告的数据包括新生儿筛查州概况数据（随访、疾病检测以及筛查流程和方法的报告）、质量指标数据（先天性肾上腺皮质增生症新生儿筛查的及时性）和确诊病例。这种全面的情况分析比较了美国各地的先天性肾上腺皮质增生症新生儿筛查系统。这对于最终确保有盐危机风险的先天性肾上腺皮质增生症新生儿及时得到适当干预至关重要。
