NEWBORN SCREENING TRANSLATIONAL RESEARCH NETWORK (NBSTRN).

新生儿筛查（NBS）计划目前每年筛查400多万美国婴儿。 年新生儿筛查的目的是发现潜在的致命或致残的条件， 新生儿，从而为早期治疗提供了一个机会窗口，通常在儿童 仍然没有症状这项公共卫生计划通过 确定有先天性疾病风险的婴儿， 治疗有可能降低发病率和死亡率。 2006年，美国医学遗传学和基因组学学院（ACMG）领导了这项研究。 新生儿筛查指南建议所有新生儿接受29项筛查 核心评价期间确定的25个“次要条件”， 报道这些建议已获卫生署接纳， 人类服务部（HHS）新生儿遗传性疾病秘书咨询委员会 （ACHDNC）（最初由2000年《儿童健康法》授权）， HHS的秘书。 现在有34个核心条件和26个次要条件构成了推荐的 均匀筛选板（RUSP）。大多数州现在使用这种或非常类似的面板为新生儿 筛选这些筛查指南已被各州广泛接受 筛选实验室，并有兴趣增加新的测试，已适当审查 推荐的面板。此外，根据《新生儿筛查法》， 2007年，并根据2014年《新生儿筛查拯救生命重新授权法案》重申， 亨特凯利新生儿筛查研究计划在尤尼斯肯尼迪施莱佛 国家儿童健康和人类发展研究所（NICHD），国家儿童健康和人类发展研究所的一部分， 美国卫生研究院（NIH），被授权进行，协调和扩大研究， 新生儿筛查这符合国家排雷中心的使命，即确保 每个人出生时都是健康的，是需要的，妇女不会受到有害影响， 所有儿童都有机会充分发挥其潜力 健康和富有成效的生活。 具体而言，国家儿童健康与发展研究所的智力和发育残疾分支已经 作为其研究重点之一，以改善缺碘症的筛查和早期诊断 并为他们开发早期干预和治疗方法。英文名：Hunter Kelly Newborn 筛查研究方案福尔斯属于NICHD/NIH缺碘症分支的职权范围。 目前，与新生儿筛查相关的政策是通过分析 所考虑的每种疾病的严重程度和发生率， 筛选试验、疾病的自然史以及疗效、安全性和 有效的治疗方法可用于疾病。 到目前为止，已经发现了数千种罕见的疾病， 可能受益于新生儿筛查;然而，在这个竞技场的研究，其中许多 的疾病是罕见的疾病和国家有不同的规则和条例有关， 新生儿筛查对研究人员来说一直是一个挑战。

Newborn screening (NBS) programs currently screen more than 4 million U.S. infants per year. The intent of newborn screening is to detect potentially fatal or disabling conditions in newborns, thereby providing a window of opportunity for early treatment, often while the child is still asymptomatic. This public health program has saved countless lives through the identification of infants who are at risk for congenital disorders for which early interventions and treatments have the potential to reduce morbidity and mortality. In 2006 the American College of Medical Genetics and Genomics (ACMG) led the development of newborn screening guidelines that recommend that all newborn infants be screened for 29 "core conditions" and that 25 “secondary conditions” identified during the core evaluations be reported. These recommendations have been accepted by the Department of Health and Human Services (HHS) Secretary's Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) (originally authorized by the Children's Health Act of 2000), and the Secretary of HHS. There are now 34 core conditions and 26 secondary conditions that form the Recommended Uniform Screening Panel (RUSP). Most states now use this or very similar panels for newborn screening. There has been broad acceptance of these screening guidelines by state screening laboratories, and interest in adding new tests that have been appropriately vetted to the recommended panel. In addition, under the Newborn Screening Saves Lives Act of 2007 and reaffirmed under the Newborn Screening Saves Lives Reauthorization Act of 2014, the Hunter Kelly Newborn Screening Research Program within the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), part of the National Institutes of Health (NIH), is authorized to carry out, coordinate, and expand research in newborn screening. This is in keeping with the mission of NICHD, which is to ensure that every person is born healthy and wanted, that women suffer no harmful effects from reproductive processes, and that all children have the chance to achieve their full potential for healthy and productive lives. Specifically, the Intellectual and Developmental Disabilities (IDD) Branch within NICHD has as one of its research priorities to improve screening and early diagnosis for IDD conditions and develop early interventions and treatments for them. Hence, the Hunter Kelly Newborn Screening Research Program falls under the purview of the IDD Branch within NICHD/NIH. Currently, policies related to newborn screening are determined through analysis of the severity and incidence of each condition under consideration, the specificity and sensitivity of the screening test, the natural history of the disorder, and the efficacy, safety, and effectiveness of treatments available for the disorder. To date, there are thousands of rare disorders that have been identified and hundreds that could potentially benefit from newborn screening; however, research in this arena, where many of the disorders are rare diseases and states have varying rules and regulations related to newborn screening, has been challenging for investigators.