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Landscape of Congenital Adrenal Hyperplasia Newborn Screening in the United States

Newborn screening (NBS) is a state-based public health program that aims to identify newborns at risk of certain disorders in the first days after birth to prevent permanent disability or death. Disorders on the Health and Human Services Federal Advisory Committee’s Recommended Uniform Screening Pan...

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Autores principales: Edelman, Sari, Desai, Hiral, Pigg, Trey, Yusuf, Careema, Ojodu, Jelili
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7569894/
https://www.ncbi.nlm.nih.gov/pubmed/33239590
http://dx.doi.org/10.3390/ijns6030064
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author Edelman, Sari
Desai, Hiral
Pigg, Trey
Yusuf, Careema
Ojodu, Jelili
author_facet Edelman, Sari
Desai, Hiral
Pigg, Trey
Yusuf, Careema
Ojodu, Jelili
author_sort Edelman, Sari
collection PubMed
description Newborn screening (NBS) is a state-based public health program that aims to identify newborns at risk of certain disorders in the first days after birth to prevent permanent disability or death. Disorders on the Health and Human Services Federal Advisory Committee’s Recommended Uniform Screening Panel (RUSP) have been adopted by most state NBS programs; however, each state mandates specific disorders to be screened and implements their own system processes. Congenital adrenal hyperplasia (CAH) was added to the RUSP in 2005, and currently all 53 NBS programs universally screen for it. This paper provides a landscape of CAH screening in the United States, utilizing data voluntarily entered by state NBS programs in the Newborn Screening Technical assistance and Evaluation Program data repository. Data reported encompasses NBS state profile data (follow-up, disorder testing and the reporting of processes and methodologies for screening), quality indicator data (timeliness of CAH NBS) and confirmed cases. This comprehensive landscape analysis compares the CAH NBS systems across the US. This is vital in ultimately ensuring that newborns with CAH at risk of salt crisis receive appropriate intervention in a timely manner.
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spelling pubmed-75698942020-10-29 Landscape of Congenital Adrenal Hyperplasia Newborn Screening in the United States Edelman, Sari Desai, Hiral Pigg, Trey Yusuf, Careema Ojodu, Jelili Int J Neonatal Screen Article Newborn screening (NBS) is a state-based public health program that aims to identify newborns at risk of certain disorders in the first days after birth to prevent permanent disability or death. Disorders on the Health and Human Services Federal Advisory Committee’s Recommended Uniform Screening Panel (RUSP) have been adopted by most state NBS programs; however, each state mandates specific disorders to be screened and implements their own system processes. Congenital adrenal hyperplasia (CAH) was added to the RUSP in 2005, and currently all 53 NBS programs universally screen for it. This paper provides a landscape of CAH screening in the United States, utilizing data voluntarily entered by state NBS programs in the Newborn Screening Technical assistance and Evaluation Program data repository. Data reported encompasses NBS state profile data (follow-up, disorder testing and the reporting of processes and methodologies for screening), quality indicator data (timeliness of CAH NBS) and confirmed cases. This comprehensive landscape analysis compares the CAH NBS systems across the US. This is vital in ultimately ensuring that newborns with CAH at risk of salt crisis receive appropriate intervention in a timely manner. MDPI 2020-08-14 /pmc/articles/PMC7569894/ /pubmed/33239590 http://dx.doi.org/10.3390/ijns6030064 Text en © 2020 by the authors. 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 (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Edelman, Sari
Desai, Hiral
Pigg, Trey
Yusuf, Careema
Ojodu, Jelili
Landscape of Congenital Adrenal Hyperplasia Newborn Screening in the United States
title Landscape of Congenital Adrenal Hyperplasia Newborn Screening in the United States
title_full Landscape of Congenital Adrenal Hyperplasia Newborn Screening in the United States
title_fullStr Landscape of Congenital Adrenal Hyperplasia Newborn Screening in the United States
title_full_unstemmed Landscape of Congenital Adrenal Hyperplasia Newborn Screening in the United States
title_short Landscape of Congenital Adrenal Hyperplasia Newborn Screening in the United States
title_sort landscape of congenital adrenal hyperplasia newborn screening in the united states
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7569894/
https://www.ncbi.nlm.nih.gov/pubmed/33239590
http://dx.doi.org/10.3390/ijns6030064
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