Valproate embryopathy — RACP Paediatrics MCQ

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ModerateGeneticsValproate embryopathyRACP Paediatrics

A neonate born to mother on valproate has NTD (spina bifida), broad nasal bridge, thin upper lip, long philtrum. What is the diagnosis?

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Correct answer: D — Valproate embryopathy

Valproate embryopathy: NTDs (1-2%), characteristic facies, cardiac defects, ID and autism risk. Avoid valproate in childbearing women.

Reference: RACP Paediatric Curriculum – Genetics; Australian Therapeutic Guidelines – 2024