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NBS – elevated IRT — RACP Paediatrics MCQ

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EasyGeneticsNBS – elevated IRTRACP Paediatrics

A newborn screening result shows elevated immunoreactive trypsinogen (IRT). A repeat IRT at 4 weeks remains elevated. What is the most appropriate next step?

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Correct answer: A — Refer to metabolic service

Persistently elevated IRT on newborn screening is suspicious for cystic fibrosis. Referral to a metabolic/respiratory service for a sweat test (diagnostic gold standard) is required. Many NBS programmes also perform CFTR gene analysis on the initial sample. An elevated IRT is not diagnostic and requires confirmatory testing.

Reference: Australian Newborn Screening Guidelines; RCH Melbourne – 2023 – Cystic Fibrosis CPG