Sontag Marci K, Sarkar Deboshree, Comeau Anne M, Hassell Kathryn, Botto Lorenzo D, Parad Richard, Rose Susan R, Wintergerst Kupper A, Smith-Whitley Kim, Singh Sikha, Yusuf Careema, Ojodu Jelili, Copeland Sara, Hinton Cynthia F
Department of Epidemiology, Colorado School of Public Health, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
NewSTEPs, Newborn Screening Technical assistance and Evaluation Program, A Program of the Association of Public Health Laboratories, Silver Spring, MD 20910, USA.
Int J Neonatal Screen. 2018;4(2):16. doi: 10.3390/ijns4020016. Epub 2018 May 9.
Newborn screening (NBS) identifies infants with rare conditions to prevent death or the onset of irreversible morbidities. Conditions on the Health and Human Services Secretary's Recommended Uniform Screening Panel have been adopted by most state NBS programs, providing a consistent approach for identification of affected newborns across the United States. Screen-positive newborns are identified and referred for confirmatory diagnosis and follow-up. The designation of a clinically significant phenotype precursor to a clinical diagnosis may vary between clinical specialists, resulting in diagnostic variation. Determination of disease burden and birth prevalence of the screened conditions by public health tracking is made challenging by these variations. This report describes the development of a core group of new case definitions, along with implications, plans for their use, and links to the definitions that were developed by panels of clinical experts. These definitions have been developed through an iterative process and are piloted in NBS programs. Consensus public health surveillance case definitions for newborn screened disorders will allow for consistent categorization and tracking of short- and long-term follow-up of identified newborns at the local, regional, and national levels.
新生儿筛查（NBS）可识别患有罕见疾病的婴儿，以预防死亡或不可逆疾病的发生。大多数州的新生儿筛查项目都采用了卫生与公众服务部部长推荐的统一筛查小组中的疾病项目，为全美范围内识别受影响的新生儿提供了一致的方法。筛查呈阳性的新生儿会被识别出来，并被转介进行确诊和后续跟踪。临床专家对临床诊断前具有临床意义的表型前驱的认定可能存在差异，从而导致诊断差异。这些差异使得通过公共卫生跟踪来确定筛查疾病的疾病负担和出生患病率变得具有挑战性。本报告描述了一组新的核心病例定义的制定过程，以及其影响、使用计划，以及与临床专家小组制定的定义的关联。这些定义是通过反复迭代过程制定的，并在新生儿筛查项目中进行了试点。针对新生儿筛查疾病的共识性公共卫生监测病例定义将使在地方、区域和国家层面上对已识别新生儿的短期和长期随访进行一致的分类和跟踪成为可能。
