Landscape of Spinal Muscular Atrophy Newborn Screening in the United States: 2018-2021.
Landscape of Spinal Muscular Atrophy Newborn Screening in the United States: 2018-2021.
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DOI：
10.3390/ijns7030033
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发表时间：
2021-06-24
影响因子：
3.5
通讯作者：
Singh S
中科院分区：
文献类型：
--
作者：
Hale K;Ojodu J;Singh S
新生儿筛查（NBS）计划识别出遗传性疾病风险增加的新生儿，将这些新生儿与及时的干预和潜在的挽救生命的治疗联系起来。在美国，卫生与公众服务部（HHS）新生儿和儿童遗传性疾病咨询委员会（ACHDNC）建议国家统计局项目筛查这些疾病。ACHDNC于2018年7月更新了推荐的统一筛查小组，以包括脊髓性肌萎缩症（SMA）。截至2021年6月，34个国家统计局项目已全面实施SMA新生儿筛查，至少8个项目正在实施中。本文将回顾当前SMA筛查过程、注意事项、挑战和现状。
Newborn screening (NBS) programs identify newborns at increased risk for genetic disorders, linking these newborns to timely intervention and potentially life-saving treatment. In the United States, the Health and Human Services (HHS) Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) recommends the disorders for state NBS programs to screen. ACHDNC updated the Recommended Uniform Screening Panel to include Spinal Muscular Atrophy (SMA) in July 2018. As of June 2021, 34 state NBS programs had fully implemented SMA newborn screening, and at least 8 programs were pursuing implementation. This article will review current SMA screening processes, considerations, challenges, and status.