Newborn screening: toward a uniform screening panel and system.
Newborn screening: toward a uniform screening panel and system.
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DOI：
10.1097/01.gim.0000223891.82390.ad
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发表时间：
2006-05
期刊：
影响因子：
--
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中科院分区：
文献类型：
--
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妇幼保健局委托美国医学遗传学学会概述了一个过程，为国家新生儿筛查计划的结果和指导方针的标准化，并确定收集和评估结果数据的责任，包括建议的统一条件面板，包括在国家新生儿筛查计划。专家小组确定了29种应强制进行筛查的条件。确定了另外25种疾病，因为它们是核心组中疾病鉴别诊断的一部分，具有临床意义，并通过筛查技术发现，但缺乏有效的治疗，或者它们代表具有潜在临床意义的偶然发现。识别的过程进行了描述，并提供了建议。
The Maternal and Child Health Bureau commissioned the American College of Medical Genetics to outline a process for the 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.
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影响因子：
8
作者：
Homer, CJ;Lannon, CM;Simpson, L
通讯作者：
Simpson, L
影响因子：
8
作者：
Keren, R;Helfand, M;Lieu, TA
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Lieu, TA
影响因子：
8
作者：
Carroll, AE;Downs, SM
通讯作者：
Downs, SM
影响因子：
9.3
作者：
Lacey, JM;Minutti, CZ;Matern, D
通讯作者：
Matern, D
影响因子：
8.8
作者：
Angus, DC;Barnato, AE;Rubenfeld, GD
通讯作者：
Rubenfeld, GD