Explain a positive newborn cystic fibrosis screen to worried parents — OSCE

OSCE communication and shared-planning station: explaining a positive newborn bloodspot screen for cystic fibrosis to anxious parents of a well baby, why a positive screen is not a diagnosis, what the confirmatory sweat test involves, and the plan and support while awaiting results.

osce communication and shared management3 min readVerification in progress

Prompt

The parents of a well 5-week-old girl have been told her newborn bloodspot screen was positive for cystic fibrosis. They are frightened and want to understand what the result means, whether their baby definitely has CF, what the sweat test involves, and what happens next.

Candidate instructions

You are the paediatric registrar in a general clinic. A 5-week-old girl has had a positive newborn bloodspot screen for cystic fibrosis (raised trypsinogen and one ΔF508 mutation). She is well, feeding and growing normally. Her parents have ten minutes with you before her referral to the CF centre. They want to understand, in plain language: (1) what the positive screen means; (2) whether their daughter definitely has CF; (3) what the sweat test involves; and (4) what happens next. Explain with empathy, check understanding, and agree a clear plan. [1]

Paediatrics Fellowship Pro

You have read the opening of this case. The complete unit — every section and its primary-source references — is part of the Paediatrics Fellowship fellowship atlas.

References4Show ledger

[1]Farrell PM, White TB, Ren CL, et al. Diagnosis of Cystic Fibrosis: Consensus Guidelines from the Cystic Fibrosis Foundation. J Pediatr, 2017.PMID 28129811
[2]Farrell PM, White TB, Howenstine MS, et al. Diagnosis of Cystic Fibrosis in Screened Populations. J Pediatr, 2017.PMID 28129810
[3]LeGrys VA, Yankaskas JR, Quittell LM, et al. Diagnostic sweat testing: the Cystic Fibrosis Foundation guidelines. J Pediatr, 2007.PMID 17586196
[4]Farrell PM, Kosorok MR, Laxova A, et al. Nutritional benefits of neonatal screening for cystic fibrosis. Wisconsin Cystic Fibrosis Neonatal Screening Study Group. N Engl J Med, 1997.PMID 9395429