Abhyankar Swapna, Lloyd-Puryear Michele A, Goodwin Rebecca, Copeland Sara, Eichwald John, Therrell Bradford L, Zuckerman Alan, Downing Greg, McDonald Clement J
National Library of Medicine, Bethesda, MD;
AMIA Annu Symp Proc. 2010 Nov 13;2010:1-5.
Newborn screening (NBS) is a complex process that has high-stakes health implications and requires rapid and effective communication between many people and organizations. Currently, each NBS laboratory has its own method of reporting results to state programs, hospitals and individual providers, with wide variation in content and format. Pediatric care providers receive reports by mail, email, fax or telephone, depending on whether the results are normal or abnormal. This process is slow and prone to errors, which can lead to delays in treatment. Multiple agencies worked together to create national guidance for reporting newborn screening results with HL7 messages that contain a prescribed set of LOINC and SNOMED CT codes, report quantitative test results, and use standardized units of measure. Several states are already implementing this guidance. If the guidance is used nationally, office EHRs could capture NBS results more efficiently, and regional and national registries could better analyze aggregate results to facilitate improvements in NBS and further research for these rare conditions.
新生儿筛查（NBS）是一个复杂的过程，对健康有着重大影响，需要众多人员和组织之间进行快速有效的沟通。目前，每个新生儿筛查实验室都有自己向州项目、医院和个体医疗服务提供者报告结果的方式，内容和格式差异很大。儿科医疗服务提供者根据结果是否正常，通过邮件、电子邮件、传真或电话接收报告。这个过程缓慢且容易出错，可能导致治疗延误。多个机构共同努力，制定了关于使用HL7消息报告新生儿筛查结果的国家指南，这些消息包含一组规定的LOINC和SNOMED CT代码，报告定量检测结果，并使用标准化计量单位。几个州已经在实施这一指南。如果该指南在全国范围内使用，办公电子健康记录系统可以更高效地获取新生儿筛查结果，区域和国家登记处可以更好地分析汇总结果，以促进新生儿筛查的改进，并进一步研究这些罕见病症。
