Fetal valproate spectrum disorder

Fetal valproate spectrum disorder
Other namesFetal valproate syndrome (FVS), fetal valproic acid syndrome, valproic acid embryopathy
Facial features associated with valproate exposure at different ages
SpecialtyMedical genetics, pediatrics
SymptomsNeural tube defects, distinctive facial features, congenital heart defects, limb abnormalities, developmental delays, autism spectrum disorder[1][2][3]
ComplicationsIntellectual disability, cognitive impairments, physical disabilities
Usual onsetPrenatal
DurationLifelong
CausesPrenatal exposure to valproic acid (VPA)
Diagnostic methodBased on clinical features, history of VPA exposure, diagnostic imaging, genetic counseling
Differential diagnosisOther antiepileptic drug-related fetopathies, fetal alcohol spectrum disorder
PreventionAvoiding valproic acid during pregnancy, using alternative medications, folic acid supplementation
TreatmentMultidisciplinary management including regular monitoring, early intervention therapies, surgical correction of anomalies, supportive therapies
PrognosisVariable; depends on severity and type of anomalies
FrequencyRare; exact prevalence unknown, fewer than 50,000 cases in the U.S.[1]
Minor limb malformations seen after valproate exposure

Fetal valproate spectrum disorder (FVSD), previously known as fetal valproate syndrome (FVS), is a rare disease caused by prenatal exposure to valproic acid (VPA), a medication commonly used to treat epilepsy, bipolar disorder, and migraines. This exposure can lead to a range of neurodevelopmental and physical symptoms, including cognitive impairments, developmental delays, autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), and congenital malformations.[1][2][3]

  1. ^ a b c "Fetal valproate spectrum disorder". Genetic and Rare Diseases Information Center. 2024. Archived from the original on 2024-05-30. Retrieved 2024-05-31.
  2. ^ a b "Fetal valproate spectrum disorder". Orphanet. 2020. Archived from the original on 2024-05-31. Retrieved 2024-05-31.
  3. ^ a b Clayton-Smith, Jill; Bromley, Rebecca; Dean, John; Journel, Hubert; Odent, Sylvie; Wood, Amanda; Williams, Janet; Cuthbert, Verna; Hackett, Latha; Aslam, Neelo; Malm, Heli; James, Gregory; Westbom, Lena; Day, Ruth; Ladusans, Edmund; Jackson, Adam; Bruce, Iain; Walker, Robert; Sidhu, Sangeet; Dyer, Catrina; Ashworth, Jane; Hindley, Daniel; Diaz, Gemma Arca; Rawson, Myfanwy; Turnpenny, Peter (December 2019). "Diagnosis and management of individuals with Fetal Valproate Spectrum Disorder; a consensus statement from the European Reference Network for Congenital Malformations and Intellectual Disability". Orphanet Journal of Rare Diseases. 14 (1): 180. doi:10.1186/s13023-019-1064-y. PMC 6642533. PMID 31324220.