Pediatrics. 2006 May;117(5 Pt 2):S296-307. doi: 10.1542/peds.2005-2633I.
The Maternal and Child Health Bureau commissioned the American College of Medical Genetics to outline a process of standardization of outcomes and guidelines for state newborn screening programs and to define responsibilities for collecting and evaluating outcome data, including a recommended uniform panel of conditions to include in state newborn screening programs. The expert panel identified 29 conditions for which screening should be mandated. An additional 25 conditions were identified because they are part of the differential diagnosis of a condition in the core panel, they are clinically significant and revealed with screening technology but lack an efficacious treatment, or they represent incidental findings for which there is potential clinical significance. The process of identification is described, and recommendations are provided.
母婴健康局委托美国医学遗传学学会概述州新生儿筛查项目结果和指南的标准化流程，并明确收集和评估结果数据的职责，包括一份建议纳入州新生儿筛查项目的统一疾病清单。专家小组确定了29种应强制进行筛查的疾病。另外还确定了25种疾病，因为它们是核心清单中某种疾病鉴别诊断的一部分，具有临床意义且能通过筛查技术检测出来，但缺乏有效的治疗方法，或者它们代表具有潜在临床意义的偶然发现。文中描述了识别过程并提供了相关建议。
