Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota 55455, USA.
Genet Med. 2010 Dec;12(12 Suppl):S267-8. doi: 10.1097/GIM.0b013e3181fea476.
New technology in newborn screening permits clinicians to approach strategies for defining optimal treatments for newborn-screened conditions. The Health Resources and Services Administration Maternal and Child Health Bureau, the Eunice Kennedy Shriver National Institute of Child Health and Human Development, and the Centers for Disease Control and Prevention have all established initiatives for long-term follow-up assessment of children identified after newborn screening. In October 2008, an inaugural meeting of the National Institute of Child Health and Human Development-sponsored National Coordinating Center Long-Term Follow-Up Data Collection Work Group brought together partners from Health Resources and Services Administration-sponsored Regional Genetics Collaboratives to review pilot projects undertaken to promote systematic long-term follow-up for children with inborn errors of metabolism identified by newborn bloodspot screening. Beginning with these projects, the goal of this meeting was to provide a foundation for national planning for a common data set to be used for long-term follow-up. This supplement summarizes these initial projects.
新生儿筛查领域的新技术使临床医生能够制定针对新生儿筛查疾病的最佳治疗方案。卫生资源与服务管理局（HRSA）母婴健康局、肯尼迪·施莱佛国立儿童健康与人类发展研究所（Eunice Kennedy Shriver National Institute of Child Health and Human Development）和疾病控制与预防中心（Centers for Disease Control and Prevention）都为长期随访筛查后儿童的评估建立了计划。2008 年 10 月，由国立儿童健康与人类发展研究所（National Institute of Child Health and Human Development）主办的首届国家协调中心长期随访数据收集工作组会议汇集了卫生资源与服务管理局（HRSA）赞助的区域遗传合作组织的合作伙伴，以审查为促进新生儿血斑筛查发现的先天性代谢错误儿童的系统长期随访而开展的试点项目。从这些项目开始，本次会议的目标是为制定用于长期随访的通用数据集的国家计划提供基础。本增刊总结了这些初始项目。
