Rare Disease Institute, Children's National Hospital, Washington, District of Columbia, USA.
Department of Pediatrics, Carver College of Medicine, University of Iowa, Iowa City, Iowa, USA.
Am J Med Genet A. 2020 Jul;182(7):1750-1753. doi: 10.1002/ajmg.a.61587. Epub 2020 Apr 10.
Newborn screening (NBS) is a well-established state-run public health program which has targeted the early identification of treatable diseases like classic galactosemia (CG) for over a decade. We describe the case of a symptomatic newborn with CG and an abnormal screen report, including positive DNA-based test, who still managed to fall through the cracks in a sub-optimally functioning NBS program, despite decades of screening experience. While much attention is paid to testing technology, this case illustrates basic minimum requirements a newborn screening program must fulfill to reliably identify and treat all affected individuals including minimum reporting requirements, case surveillance and a dedicated short-term follow-up program. In newborn screening, success is systematic.
新生儿筛查（NBS）是一项成熟的国家公共卫生计划，十多年来一直致力于早期发现可治疗的疾病，如经典半乳糖血症（CG）。我们描述了一个有症状的 CG 新生儿的病例，其筛查报告异常，包括基于 DNA 的阳性检测，但仍未能通过一个功能不佳的 NBS 计划的漏洞，尽管有几十年的筛查经验。虽然人们对检测技术给予了很多关注，但这个病例说明了新生儿筛查计划必须满足的基本最低要求，以可靠地识别和治疗所有受影响的个体，包括最低报告要求、病例监测和专门的短期随访计划。在新生儿筛查中，成功是系统性的。
