Cargando…

Cystic fibrosis diagnosed by state newborn screening: Or is it?

Newborn screening for cystic fibrosis is universal across the United States; however, each state chooses the method by which they screen. Illinois employs a two-step process which includes the measurement of the immunoreactive trypsinogen followed by an assay designed to detect 74 of the most common...

Descripción completa

Detalles Bibliográficos
Autores principales: Fox, Maura, Mercier, Angelique, Savant, Adrienne, Laguna, Theresa A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7339076/
https://www.ncbi.nlm.nih.gov/pubmed/32670584
http://dx.doi.org/10.1177/2050313X20939421
_version_ 1783554818476867584
author Fox, Maura
Mercier, Angelique
Savant, Adrienne
Laguna, Theresa A
author_facet Fox, Maura
Mercier, Angelique
Savant, Adrienne
Laguna, Theresa A
author_sort Fox, Maura
collection PubMed
description Newborn screening for cystic fibrosis is universal across the United States; however, each state chooses the method by which they screen. Illinois employs a two-step process which includes the measurement of the immunoreactive trypsinogen followed by an assay designed to detect 74 of the most common genetic mutations in the cystic fibrosis transmembrane conductance regulator protein. We report the case of an infant born in Illinois with a positive cystic fibrosis newborn screening with an elevated immunoreactive trypsinogen and two genetic mutations identified (F508del/F508del). The primary care physician informed the parents their child had cystic fibrosis and referred her for a confirmatory sweat test which was negative for cystic fibrosis. Upon further investigation, the assay was found to have been set up incorrectly and repeat analysis identified the genotype F508del/F508C. This case highlights the importance of performing the confirmatory sweat test prior to making a diagnosis of cystic fibrosis.
format Online
Article
Text
id pubmed-7339076
institution National Center for Biotechnology Information
language English
publishDate 2020
publisher SAGE Publications
record_format MEDLINE/PubMed
spelling pubmed-73390762020-07-14 Cystic fibrosis diagnosed by state newborn screening: Or is it? Fox, Maura Mercier, Angelique Savant, Adrienne Laguna, Theresa A SAGE Open Med Case Rep Case Report Newborn screening for cystic fibrosis is universal across the United States; however, each state chooses the method by which they screen. Illinois employs a two-step process which includes the measurement of the immunoreactive trypsinogen followed by an assay designed to detect 74 of the most common genetic mutations in the cystic fibrosis transmembrane conductance regulator protein. We report the case of an infant born in Illinois with a positive cystic fibrosis newborn screening with an elevated immunoreactive trypsinogen and two genetic mutations identified (F508del/F508del). The primary care physician informed the parents their child had cystic fibrosis and referred her for a confirmatory sweat test which was negative for cystic fibrosis. Upon further investigation, the assay was found to have been set up incorrectly and repeat analysis identified the genotype F508del/F508C. This case highlights the importance of performing the confirmatory sweat test prior to making a diagnosis of cystic fibrosis. SAGE Publications 2020-07-02 /pmc/articles/PMC7339076/ /pubmed/32670584 http://dx.doi.org/10.1177/2050313X20939421 Text en © The Author(s) 2020 https://creativecommons.org/licenses/by-nc/4.0/ This article is distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 License (https://creativecommons.org/licenses/by-nc/4.0/) which permits non-commercial use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SAGE and Open Access pages (https://us.sagepub.com/en-us/nam/open-access-at-sage).
spellingShingle Case Report
Fox, Maura
Mercier, Angelique
Savant, Adrienne
Laguna, Theresa A
Cystic fibrosis diagnosed by state newborn screening: Or is it?
title Cystic fibrosis diagnosed by state newborn screening: Or is it?
title_full Cystic fibrosis diagnosed by state newborn screening: Or is it?
title_fullStr Cystic fibrosis diagnosed by state newborn screening: Or is it?
title_full_unstemmed Cystic fibrosis diagnosed by state newborn screening: Or is it?
title_short Cystic fibrosis diagnosed by state newborn screening: Or is it?
title_sort cystic fibrosis diagnosed by state newborn screening: or is it?
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7339076/
https://www.ncbi.nlm.nih.gov/pubmed/32670584
http://dx.doi.org/10.1177/2050313X20939421
work_keys_str_mv AT foxmaura cysticfibrosisdiagnosedbystatenewbornscreeningorisit
AT mercierangelique cysticfibrosisdiagnosedbystatenewbornscreeningorisit
AT savantadrienne cysticfibrosisdiagnosedbystatenewbornscreeningorisit
AT lagunatheresaa cysticfibrosisdiagnosedbystatenewbornscreeningorisit