Newborn Screening Quality Assurance Program, Division of Laboratory Sciences, National Center for Environmental Health, Centers for Disease Control and Prevention, Atlanta, GA 30341, USA.
Semin Perinatol. 2010 Apr;34(2):125-33. doi: 10.1053/j.semperi.2009.12.003.
Newborn screening is the largest population-based genetic screening effort in the United States. The detection of treatable, inherited congenital disorders is a major public health responsibility. The Centers for Disease Control and Prevention's (CDC's) Newborn Screening Quality Assurance Program helps newborn screening laboratories ensure that testing accurately detects these disorders, does not delay diagnosis, minimizes false-positive reports, and sustains high-quality performance. For over 30 years, the CDC's Newborn Screening Quality Assurance Program has performed this essential public health service, ensuring the quality and accuracy of screening tests for more than 4 million infants born each year in the United States and millions more worldwide. The Program has grown from 1 disorder in 1978 for 31 participants to more than 50 disorders for 459 participants in 2009. This report reviews the Program's milestones and services to the newborn screening community.
新生儿筛查是美国最大的基于人群的遗传筛查工作。检测可治疗的遗传性先天性疾病是一项主要的公共卫生责任。疾病预防控制中心（CDC）的新生儿筛查质量保证计划帮助新生儿筛查实验室确保检测准确地发现这些疾病，不延迟诊断，最大限度地减少假阳性报告，并保持高质量的性能。30 多年来，CDC 的新生儿筛查质量保证计划一直提供这项基本的公共卫生服务，确保每年在美国出生的 400 多万婴儿和全球数百万婴儿的筛查测试的质量和准确性。该计划已从 1978 年的 1 种疾病和 31 名参与者发展到 2009 年的 50 多种疾病和 459 名参与者。本报告回顾了该计划对新生儿筛查界的里程碑和服务。
