Newborn Screening — RACP Paediatrics MCQ

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ModerateCommunity & Indigenous HealthNewborn ScreeningRACP Paediatrics

Which condition is included on the Australian Newborn Bloodspot Screening program that is screened for using tandem mass spectrometry?

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Correct answer: D — Phenylketonuria

Phenylketonuria (PKU) is detected by tandem mass spectrometry (TMS) on the newborn bloodspot screening, which measures elevated phenylalanine levels. TMS also detects multiple amino acid disorders, fatty acid oxidation defects (including MCAD), and organic acidaemias. Congenital hypothyroidism is screened by TSH immunoassay, cystic fibrosis by immunoreactive trypsinogen (IRT), and CAH by 17-OHP.

Reference: Australian Government Department of Health – 2024 – Newborn Bloodspot Screening