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The fetal valproate syndrome
Insights
Prenatal exposure to sodium valproate (valproic acid) can cause a distinct facial phenotype in children. This pattern of facial changes, along with other birth defects, highlights potential risks of in utero drug exposure.
Area of Science:
- Teratology
- Developmental Pediatrics
- Clinical Genetics
Background:
- Sodium valproate (valproic acid) is a widely used antiepileptic and mood-stabilizing drug.
- Concerns exist regarding potential teratogenic effects of valproate when used during pregnancy.
Purpose of the Study:
- To describe the facial phenotype and associated birth defects in children exposed to sodium valproate in utero.
- To identify a consistent pattern of dysmorphic features linked to prenatal valproate exposure.
Main Methods:
- Retrospective evaluation of seven children with documented in utero exposure to sodium valproate.
- Detailed clinical assessment and documentation of facial features and other congenital anomalies.
Main Results:
- All seven children exhibited a consistent facial phenotype.
- Observed features included epicanthal folds, flat nasal bridge, small upturned nose, long philtrum, and downturned mouth.
- Four children presented with additional birth defects, including hypospadias, strabismus, psychomotor delay, nystagmus, and low birth weight.
Conclusions:
- Prenatal exposure to sodium valproate is associated with a recognizable pattern of facial dysmorphism.
- The findings underscore the importance of monitoring for birth defects in offspring of mothers using valproate during pregnancy.
Abstract:
We evaluated seven children who had been exposed to sodium valproate (or valproic acid) in utero. A consistent facial phenotype was observed in all seven in addition to other birth defects in four. The facial changes consisted of epicanthal folds which continued inferiorly and laterally to form a crease or groove just under the orbit, flat nasal bridge, small upturned nose, long upper lip with a relatively shallow philtrum, a thin upper vermillion border, and downturned angles of the mouth. Hypospadias, strabismus, and psychomotor delay were found in two males; two children had nystagmus and two had low birth weight.