National Newborn Screening and Genetics Center, Austin, TX 78759, USA.
Semin Perinatol. 2010 Apr;34(2):105-20. doi: 10.1053/j.semperi.2009.12.002.
Newborn screening (NBS) reaches approximately all of the 4 million newborns in the United States each year and has been effective in significantly reducing the morbidity and mortality that results from certain congenital conditions. The comprehensive NBS system can be divided into preanalytic (education and screening), analytic (laboratory testing), and postanalytic (reporting, short-term follow-up/tracking, diagnosis, treatment/management, ancillary services, and outcome evaluation) activities. To monitor and improve the screening system, there has been increasing emphasis on evaluation models. Federal sponsorship of a model performance evaluation and assessment scheme (PEAS) has resulted in a comprehensive listing of quality indicators for system self-assessment. We review the PEAS evolution process in an effort to illustrate the necessary infrastructure considerations in a well-functioning NBS system. Readers are encouraged to identify their role in the system and to interact appropriately at the local level. The comprehensive PEAS indicator list is provided as an Appendix.
新生儿筛查（NBS）每年覆盖美国约 400 万新生儿，在显著降低某些先天性疾病导致的发病率和死亡率方面非常有效。全面的 NBS 系统可分为分析前（教育和筛查）、分析（实验室检测）和分析后（报告、短期随访/跟踪、诊断、治疗/管理、辅助服务和结果评估）活动。为了监测和改进筛查系统，越来越重视评估模型。联邦对模型性能评估和评估计划（PEAS）的赞助，为系统自我评估制定了全面的质量指标清单。我们回顾了 PEAS 的发展过程，努力说明在功能良好的 NBS 系统中必要的基础设施考虑因素。鼓励读者确定自己在系统中的角色，并在当地层面进行适当的互动。全面的 PEAS 指标清单作为附录提供。
