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

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 Childre...

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Bibliographic Details
Main Authors: Kshea Hale, Jelili Ojodu, Sikha Singh
Format: Article
Language:English
Published: MDPI AG 2021-06-01
Series:International Journal of Neonatal Screening
Subjects:
Online Access:https://www.mdpi.com/2409-515X/7/3/33
Description
Summary: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.
ISSN:2409-515X