International Approaches to Management of CFTR-Related Metabolic Syndrome/Cystic Fibrosis Screen Positive, Inconclusive Diagnosis

Overview

Journal Int J Neonatal Screen

Date 2022 Jan 25

PMID 35076474

Authors

Jane Chudleigh

Jurg Barben

Clement L Ren

Kevin W Southern

Affiliations

Soon will be listed here.

Abstract

The main aim of the present study was to explore health professionals' reported experiences and approaches to managing children who receive a designation of cystic fibrosis transmembrane conductance regulator-related metabolic syndrome/cystic fibrosis screen positive inconclusive diagnosis following a positive NBS result for cystic fibrosis. An online questionnaire was distributed via Qualtrics Survey Software and circulated to a purposive, international sample of health professionals involved in managing children with this designation. In total, 101 clinicians completed the online survey: 39 from the US, six from Canada, and 56 from Europe (including the UK). Results indicated that while respondents reported minor deviations in practice, they were cognizant of recommendations in the updated guidance and for the most part, attempted to implement these into practice consistently internationally. Where variation was reported, the purpose of this appeared to be to enable clinicians to respond to either clinical assessments or parental anxiety in order to improve outcomes for the child and family. Further research is needed to determine if these findings are reflective of both a wider audience of clinicians and actual (rather than reported) practice.

Citing Articles

International Perspectives of Extended Genetic Sequencing When Used as Part of Newborn Screening to Identify Cystic Fibrosis.

Clark C, Holder P, Boardman F, Moody L, Cowlard J, Allen L Int J Neonatal Screen. 2024; 10(2).

PMID: 38651396 PMC: 11036278. DOI: 10.3390/ijns10020031.

Cystic Fibrosis Foundation Evidence-Based Guideline for the Management of CRMS/CFSPID.

Green D, Lahiri T, Raraigh K, Ruiz F, Spano J, Antos N Pediatrics. 2024; 153(5).

PMID: 38577740 PMC: 11781860. DOI: 10.1542/peds.2023-064657.

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