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. 2021 Jun 24;7(3):33.
doi: 10.3390/ijns7030033.

Landscape of Spinal Muscular Atrophy Newborn Screening in the United States: 2018-2021

Kshea Hale  1 , Jelili Ojodu  1 , Sikha Singh  1
Affiliations

Landscape of Spinal Muscular Atrophy Newborn Screening in the United States: 2018-2021

Kshea Hale et al. Int J Neonatal Screen. .

Abstract

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.

Keywords: new disorders implementation; newborn screening; spinal muscular atrophy.

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Conflict of interest statement

The authors declare no conflict of interest. The funders had no role in the design of the study; in the collection, analyses, or interpretation of data; in the writing of the manuscript, or in the decision to publish the results.

Figures

Figure 1
Figure 1
Phases of implementation for new disorders in newborn screening [13].
Figure 2
Figure 2
State NBS programs screening for SMA, as of 8 June 2021.
See this image and copyright information in PMC

References

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    1. Kemper A.R., Ream M.A., Lam K.K. Review of Newborn Screening Implementation for Spinal Muscular Atrophy Final Report. [(accessed on 8 June 2021)]; Available online: https://www.hrsa.gov/sites/default/files/hrsa/advisory-committees/herita....
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