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NBS – timing 48-72 hours — RACP Paediatrics MCQ

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HardNeonatalNBS – timing 48-72 hoursRACP Paediatrics

A clinically well 5-day-old has an abnormal newborn bloodspot result suggesting medium-chain acyl-CoA dehydrogenase deficiency. The parents believe the screen proves the diagnosis. What is the most appropriate response?

Educational content. Not a substitute for clinical judgement or local policy.

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Correct answer: D — Arrange urgent metabolic confirmation and give interim avoidance-of-fasting advice

Explanation lettering: D = shown as A · C = shown as B · A = shown as C · E = shown as D · B = shown as E

E is correct because a bloodspot result identifies high risk rather than establishing a final diagnosis; urgent metabolic coordination, confirmatory testing and safe interim prevention of fasting are appropriate. A creates a dangerous delay and ignores the positive program pathway. B confuses screening with diagnosis and bypasses counselling. C waits for a potentially catastrophic first decompensation. D imposes an unsupervised diet that is not the defining immediate intervention and may be nutritionally inappropriate. Australian screening programs notify clinicians specifically so further testing and early condition-specific care can be organised promptly.

Reference: Sydney Children’s Hospitals Network, NSW Newborn Screening Program: https://www.schn.health.nsw.gov.au/nsw-newborn-screening-program