Expanded NBS Coverage — RACP Paediatrics MCQ

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EasyNeonatologyExpanded NBS CoverageRACP Paediatrics

Expanded newborn screening in Australia now tests for approximately how many conditions?

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Correct answer: A — 25-30

Expanded newborn bloodspot screening in Australia (using tandem mass spectrometry) screens for approximately 25-30 conditions including: PKU, congenital hypothyroidism, CF, galactosaemia, biotinidase deficiency, CAH, MCAD and other fatty acid oxidation defects, amino acidopathies, and organic acidaemias. SMA screening is being added.

Reference: Australian Government – 2024 – Newborn Screening Program