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Rapid exome – critically ill neonate — RACP Paediatrics MCQ

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HardGeneticsRapid exome – critically ill neonateRACP Paediatrics

A critically ill neonate with an undiagnosed syndromic presentation requires comprehensive genetic assessment. Standard karyotype and CMA are normal. A rapid comprehensive test is needed. What test is increasingly available for acutely unwell neonates with suspected genetic conditions?

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Correct answer: A — Rapid trio exome sequencing

Rapid trio exome (or genome) sequencing with turnaround time of 2-5 days is increasingly available for critically ill neonates with suspected genetic conditions. Studies show diagnostic yields of 30-50% in NICU populations, with results changing management in ~70% of diagnosed cases (e.g., changing treatment, redirecting care, informing prognosis).

Reference: RACP Paediatric Curriculum – Genetics; RCH Melbourne – 2023 – Undiagnosed Conditions CPG