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Fetal Valproate Syndrome

Hatice Mutlu-Albayrak1, Cahide Bulut2, Hüseyin Çaksen3

  • 1Department of Pediatric Genetics, Meram Medical Faculty, Necmettin Erbakan University, Konya, Turkey.

Pediatrics and Neonatology
|July 17, 2016
PubMed

Insights

Valproic acid (VPA) use during pregnancy can cause fetal valproate syndrome, characterized by facial dysmorphism and skeletal abnormalities. These effects occur regardless of VPA dosage, highlighting risks for pregnant individuals with epilepsy.

Area of Science:

  • Neurology
  • Teratology
  • Developmental Pediatrics

Background:

  • Valproic acid (VPA) is an antiepileptic drug with known risks of congenital malformations when used during pregnancy.
  • Previous reports have indicated an association between maternal VPA use and adverse fetal outcomes.

Observation:

  • This study details four pediatric cases exhibiting features consistent with fetal valproate syndrome.
  • Patients presented with facial dysmorphism, minor skeletal abnormalities including finger and sternum deformities, and in some cases, bilateral cryptorchidism and speech delay.
  • Maternal VPA exposure varied in dosage and duration, with documented use ranging from 500 mg/d to 1500 mg/d during pregnancy.

Findings:

  • A recognizable spectrum of abnormalities, termed fetal valproate syndrome, is associated with in utero VPA exposure.
  • The observed malformations, including facial dysmorphic features and minor skeletal abnormalities, occurred irrespective of VPA dosage.
  • These findings suggest that even low doses of VPA may pose a teratogenic risk.

Implications:

  • Clinicians should be aware of the potential teratogenic effects of VPA, even at lower doses.
  • Pregnant individuals with epilepsy on VPA should undergo thorough monitoring for fetal development.
  • Further research is warranted to fully elucidate the dose-response relationship and long-term outcomes of fetal valproate syndrome.
Abstract

Keywords:
facial dysmorphismfetal valproate syndromeminor birth defectsskeletal abnormalities

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