Newborn Screening Saves Lives but Cannot Replace the Need for Clinical Vigilance

Newborn screening for cystic fibrosis (CF) enables early diagnosis and treatment leading to improved health outcomes for patients with CF. Although the sensitivity of newborn screening is high, false-negative results can still occur which can be misleading if clinicians are not aware of the clinical...

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Detalles Bibliográficos
Autores principales: Neemuchwala, F., Taki, M., Secord, E., Nasr, S. Z.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6051120/
https://www.ncbi.nlm.nih.gov/pubmed/30057843
http://dx.doi.org/10.1155/2018/7217326
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author Neemuchwala, F.
Taki, M.
Secord, E.
Nasr, S. Z.
author_facet Neemuchwala, F.
Taki, M.
Secord, E.
Nasr, S. Z.
author_sort Neemuchwala, F.
collection PubMed
description Newborn screening for cystic fibrosis (CF) enables early diagnosis and treatment leading to improved health outcomes for patients with CF. Although the sensitivity of newborn screening is high, false-negative results can still occur which can be misleading if clinicians are not aware of the clinical presentation of CF. We present a case of a young male with negative newborn screen diagnosed for CF. He was diagnosed at 3 years of age despite having symptoms indicative of CF since infancy. The delayed diagnosis resulted in diffuse lung damage and poor growth.
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spelling pubmed-60511202018-07-29 Newborn Screening Saves Lives but Cannot Replace the Need for Clinical Vigilance Neemuchwala, F. Taki, M. Secord, E. Nasr, S. Z. Case Rep Pediatr Case Report Newborn screening for cystic fibrosis (CF) enables early diagnosis and treatment leading to improved health outcomes for patients with CF. Although the sensitivity of newborn screening is high, false-negative results can still occur which can be misleading if clinicians are not aware of the clinical presentation of CF. We present a case of a young male with negative newborn screen diagnosed for CF. He was diagnosed at 3 years of age despite having symptoms indicative of CF since infancy. The delayed diagnosis resulted in diffuse lung damage and poor growth. Hindawi 2018-07-02 /pmc/articles/PMC6051120/ /pubmed/30057843 http://dx.doi.org/10.1155/2018/7217326 Text en Copyright © 2018 F. Neemuchwala et al. http://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Neemuchwala, F.
Taki, M.
Secord, E.
Nasr, S. Z.
Newborn Screening Saves Lives but Cannot Replace the Need for Clinical Vigilance
title Newborn Screening Saves Lives but Cannot Replace the Need for Clinical Vigilance
title_full Newborn Screening Saves Lives but Cannot Replace the Need for Clinical Vigilance
title_fullStr Newborn Screening Saves Lives but Cannot Replace the Need for Clinical Vigilance
title_full_unstemmed Newborn Screening Saves Lives but Cannot Replace the Need for Clinical Vigilance
title_short Newborn Screening Saves Lives but Cannot Replace the Need for Clinical Vigilance
title_sort newborn screening saves lives but cannot replace the need for clinical vigilance
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6051120/
https://www.ncbi.nlm.nih.gov/pubmed/30057843
http://dx.doi.org/10.1155/2018/7217326
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AT nasrsz newbornscreeningsaveslivesbutcannotreplacetheneedforclinicalvigilance

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