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...

Descripción completa

Detalles Bibliográficos
Autores principales: Hale, Kshea, Ojodu, Jelili, Singh, Sikha
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8293186/
https://www.ncbi.nlm.nih.gov/pubmed/34202531
http://dx.doi.org/10.3390/ijns7030033
_version_ 1783724979039240192
author Hale, Kshea
Ojodu, Jelili
Singh, Sikha
author_facet Hale, Kshea
Ojodu, Jelili
Singh, Sikha
author_sort Hale, Kshea
collection PubMed
description 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.
format Online
Article
Text
id pubmed-8293186
institution National Center for Biotechnology Information
language English
publishDate 2021
publisher MDPI
record_format MEDLINE/PubMed
spelling pubmed-82931862021-07-22 Landscape of Spinal Muscular Atrophy Newborn Screening in the United States: 2018–2021 Hale, Kshea Ojodu, Jelili Singh, Sikha Int J Neonatal Screen Article 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. MDPI 2021-06-24 /pmc/articles/PMC8293186/ /pubmed/34202531 http://dx.doi.org/10.3390/ijns7030033 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Hale, Kshea
Ojodu, Jelili
Singh, Sikha
Landscape of Spinal Muscular Atrophy Newborn Screening in the United States: 2018–2021
title Landscape of Spinal Muscular Atrophy Newborn Screening in the United States: 2018–2021
title_full Landscape of Spinal Muscular Atrophy Newborn Screening in the United States: 2018–2021
title_fullStr Landscape of Spinal Muscular Atrophy Newborn Screening in the United States: 2018–2021
title_full_unstemmed Landscape of Spinal Muscular Atrophy Newborn Screening in the United States: 2018–2021
title_short Landscape of Spinal Muscular Atrophy Newborn Screening in the United States: 2018–2021
title_sort landscape of spinal muscular atrophy newborn screening in the united states: 2018–2021
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8293186/
https://www.ncbi.nlm.nih.gov/pubmed/34202531
http://dx.doi.org/10.3390/ijns7030033
work_keys_str_mv AT halekshea landscapeofspinalmuscularatrophynewbornscreeningintheunitedstates20182021
AT ojodujelili landscapeofspinalmuscularatrophynewbornscreeningintheunitedstates20182021
AT singhsikha landscapeofspinalmuscularatrophynewbornscreeningintheunitedstates20182021

Ejemplares similares