Preprint Article Version 1 Preserved in Portico This version is not peer-reviewed

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

Version 1 : Received: 2 December 2021 / Approved: 3 December 2021 / Online: 3 December 2021 (10:50:20 CET)

A peer-reviewed article of this Preprint also exists.

Chudleigh, J.; Barben, J.; Ren, C.L.; Southern, K.W. International Approaches to Management of CFTR-Related Metabolic Syndrome/Cystic Fibrosis Screen Positive, Inconclusive Diagnosis. Int. J. Neonatal Screen. 2022, 8, 5. Chudleigh, J.; Barben, J.; Ren, C.L.; Southern, K.W. International Approaches to Management of CFTR-Related Metabolic Syndrome/Cystic Fibrosis Screen Positive, Inconclusive Diagnosis. Int. J. Neonatal Screen. 2022, 8, 5.

Journal reference: Int. J. Neonatal Screen. 2022, 8, 5
DOI: 10.3390/ijns8010005

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.

Keywords

cystic fibrosis; newborn bloodspot screening; CFTR-related metabolic syndrome; cystic fibrosis screen positive; inconclusive diagnosis

Subject

MEDICINE & PHARMACOLOGY, Pediatrics

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