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Case Definitions for Conditions Identified by Newborn Screening Public Health Surveillance

Newborn screening (NBS) identifies infants with rare conditions to prevent death or the onset of irreversible morbidities. Conditions on the Health and Human Services Secretary’s Recommended Uniform Screening Panel have been adopted by most state NBS programs, providing a consistent approach for ide...

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Autores principales: Sontag, Marci K., Sarkar, Deboshree, Comeau, Anne M., Hassell, Kathryn, Botto, Lorenzo D., Parad, Richard, Rose, Susan R., Wintergerst, Kupper A., Smith-Whitley, Kim, Singh, Sikha, Yusuf, Careema, Ojodu, Jelili, Copeland, Sara, Hinton, Cynthia F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5978752/
https://www.ncbi.nlm.nih.gov/pubmed/29862374
http://dx.doi.org/10.3390/ijns4020016
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author Sontag, Marci K.
Sarkar, Deboshree
Comeau, Anne M.
Hassell, Kathryn
Botto, Lorenzo D.
Parad, Richard
Rose, Susan R.
Wintergerst, Kupper A.
Smith-Whitley, Kim
Singh, Sikha
Yusuf, Careema
Ojodu, Jelili
Copeland, Sara
Hinton, Cynthia F.
author_facet Sontag, Marci K.
Sarkar, Deboshree
Comeau, Anne M.
Hassell, Kathryn
Botto, Lorenzo D.
Parad, Richard
Rose, Susan R.
Wintergerst, Kupper A.
Smith-Whitley, Kim
Singh, Sikha
Yusuf, Careema
Ojodu, Jelili
Copeland, Sara
Hinton, Cynthia F.
author_sort Sontag, Marci K.
collection PubMed
description Newborn screening (NBS) identifies infants with rare conditions to prevent death or the onset of irreversible morbidities. Conditions on the Health and Human Services Secretary’s Recommended Uniform Screening Panel have been adopted by most state NBS programs, providing a consistent approach for identification of affected newborns across the United States. Screen-positive newborns are identified and referred for confirmatory diagnosis and follow-up. The designation of a clinically significant phenotype precursor to a clinical diagnosis may vary between clinical specialists, resulting in diagnostic variation. Determination of disease burden and birth prevalence of the screened conditions by public health tracking is made challenging by these variations. This report describes the development of a core group of new case definitions, along with implications, plans for their use, and links to the definitions that were developed by panels of clinical experts. These definitions have been developed through an iterative process and are piloted in NBS programs. Consensus public health surveillance case definitions for newborn screened disorders will allow for consistent categorization and tracking of short- and long-term follow-up of identified newborns at the local, regional, and national levels.
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spelling pubmed-59787522018-05-31 Case Definitions for Conditions Identified by Newborn Screening Public Health Surveillance Sontag, Marci K. Sarkar, Deboshree Comeau, Anne M. Hassell, Kathryn Botto, Lorenzo D. Parad, Richard Rose, Susan R. Wintergerst, Kupper A. Smith-Whitley, Kim Singh, Sikha Yusuf, Careema Ojodu, Jelili Copeland, Sara Hinton, Cynthia F. Int J Neonatal Screen Article Newborn screening (NBS) identifies infants with rare conditions to prevent death or the onset of irreversible morbidities. Conditions on the Health and Human Services Secretary’s Recommended Uniform Screening Panel have been adopted by most state NBS programs, providing a consistent approach for identification of affected newborns across the United States. Screen-positive newborns are identified and referred for confirmatory diagnosis and follow-up. The designation of a clinically significant phenotype precursor to a clinical diagnosis may vary between clinical specialists, resulting in diagnostic variation. Determination of disease burden and birth prevalence of the screened conditions by public health tracking is made challenging by these variations. This report describes the development of a core group of new case definitions, along with implications, plans for their use, and links to the definitions that were developed by panels of clinical experts. These definitions have been developed through an iterative process and are piloted in NBS programs. Consensus public health surveillance case definitions for newborn screened disorders will allow for consistent categorization and tracking of short- and long-term follow-up of identified newborns at the local, regional, and national levels. MDPI 2018-05-09 /pmc/articles/PMC5978752/ /pubmed/29862374 http://dx.doi.org/10.3390/ijns4020016 Text en © 2018 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
Sontag, Marci K.
Sarkar, Deboshree
Comeau, Anne M.
Hassell, Kathryn
Botto, Lorenzo D.
Parad, Richard
Rose, Susan R.
Wintergerst, Kupper A.
Smith-Whitley, Kim
Singh, Sikha
Yusuf, Careema
Ojodu, Jelili
Copeland, Sara
Hinton, Cynthia F.
Case Definitions for Conditions Identified by Newborn Screening Public Health Surveillance
title Case Definitions for Conditions Identified by Newborn Screening Public Health Surveillance
title_full Case Definitions for Conditions Identified by Newborn Screening Public Health Surveillance
title_fullStr Case Definitions for Conditions Identified by Newborn Screening Public Health Surveillance
title_full_unstemmed Case Definitions for Conditions Identified by Newborn Screening Public Health Surveillance
title_short Case Definitions for Conditions Identified by Newborn Screening Public Health Surveillance
title_sort case definitions for conditions identified by newborn screening public health surveillance
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5978752/
https://www.ncbi.nlm.nih.gov/pubmed/29862374
http://dx.doi.org/10.3390/ijns4020016
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