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Valproate embryopathy — RACP Paediatrics MCQ

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ModerateGeneticsValproate embryopathyRACP Paediatrics

A neonate born to a mother taking sodium valproate for epilepsy during pregnancy has a neural tube defect (spina bifida), a broad nasal bridge, thin upper lip, and long philtrum. What is the most likely diagnosis?

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Correct answer: D — Valproate embryopathy

Valproate embryopathy includes neural tube defects (1-2% risk, especially spina bifida), characteristic facial features (broad nasal bridge, thin upper lip, long philtrum), cardiac defects, and a risk of intellectual impairment and autism. Valproate should be avoided in women of childbearing age. High-dose folic acid (5 mg/day) before conception reduces but does not eliminate neural tube defect risk.

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