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Inconclusive Diagnosis after Newborn Screening for Cystic Fibrosis

An unintended consequence of newborn screening for cystic fibrosis (CF) is the identification of infants with a positive screening test but an inconclusive diagnostic testing. These infants are designated as CF transmembrane conductance regulator-related metabolic syndrome (CRMS) in the US and CF sc...

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Autor principal: Munck, Anne
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7422971/
https://www.ncbi.nlm.nih.gov/pubmed/33073016
http://dx.doi.org/10.3390/ijns6010019
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author Munck, Anne
author_facet Munck, Anne
author_sort Munck, Anne
collection PubMed
description An unintended consequence of newborn screening for cystic fibrosis (CF) is the identification of infants with a positive screening test but an inconclusive diagnostic testing. These infants are designated as CF transmembrane conductance regulator-related metabolic syndrome (CRMS) in the US and CF screen-positive, inconclusive diagnosis (CFSPID) in Europe. Recently, experts agreed on a unified international definition of CRMS/CFSPID which will improve our knowledge on the epidemiology and outcomes of these infants and optimize comparisons between cohorts. Many of these children will remain free of symptoms, but a number may develop clinical features suggestive of CFTR-related disorder (CFTR-RD) or CF later in life. Clinicians should to be prepared to identify these infants and communicate with parents about this challenging and stressful situation for both healthcare professionals and families. In this review, we present the recent publications on infants designated as CRMS/CFSPID, including the definition, the incidence across Europe, the assessment of the CFTR protein function, the outcomes with the rates of conversion to a final diagnosis of CF and their management.
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spelling pubmed-74229712020-10-15 Inconclusive Diagnosis after Newborn Screening for Cystic Fibrosis Munck, Anne Int J Neonatal Screen Review An unintended consequence of newborn screening for cystic fibrosis (CF) is the identification of infants with a positive screening test but an inconclusive diagnostic testing. These infants are designated as CF transmembrane conductance regulator-related metabolic syndrome (CRMS) in the US and CF screen-positive, inconclusive diagnosis (CFSPID) in Europe. Recently, experts agreed on a unified international definition of CRMS/CFSPID which will improve our knowledge on the epidemiology and outcomes of these infants and optimize comparisons between cohorts. Many of these children will remain free of symptoms, but a number may develop clinical features suggestive of CFTR-related disorder (CFTR-RD) or CF later in life. Clinicians should to be prepared to identify these infants and communicate with parents about this challenging and stressful situation for both healthcare professionals and families. In this review, we present the recent publications on infants designated as CRMS/CFSPID, including the definition, the incidence across Europe, the assessment of the CFTR protein function, the outcomes with the rates of conversion to a final diagnosis of CF and their management. MDPI 2020-03-12 /pmc/articles/PMC7422971/ /pubmed/33073016 http://dx.doi.org/10.3390/ijns6010019 Text en © 2020 by the author. 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 Review
Munck, Anne
Inconclusive Diagnosis after Newborn Screening for Cystic Fibrosis
title Inconclusive Diagnosis after Newborn Screening for Cystic Fibrosis
title_full Inconclusive Diagnosis after Newborn Screening for Cystic Fibrosis
title_fullStr Inconclusive Diagnosis after Newborn Screening for Cystic Fibrosis
title_full_unstemmed Inconclusive Diagnosis after Newborn Screening for Cystic Fibrosis
title_short Inconclusive Diagnosis after Newborn Screening for Cystic Fibrosis
title_sort inconclusive diagnosis after newborn screening for cystic fibrosis
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7422971/
https://www.ncbi.nlm.nih.gov/pubmed/33073016
http://dx.doi.org/10.3390/ijns6010019
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