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Valproate embryopathy in three sets of siblings: further proof of hereditary susceptibility
H Malm1, E Kajantie, S Kivirikko
1Teratology Information Service, Department of Medical Genetics, Family Federation of Finland, Helsinki.
Insights
Fetal valproate syndrome (FVS) may have a hereditary component. In three families, all siblings exposed to valproic acid experienced FVS, suggesting genetic susceptibility to this teratogen.
Area of Science:
- Medical Genetics
- Teratology
- Pediatric Neurology
Background:
- Fetal valproate syndrome (FVS) presents with distinct facial features, congenital malformations, and developmental delays.
- Prenatal exposure to valproic acid typically affects only a small percentage of offspring.
Observation:
- Three families demonstrated FVS in all siblings with prenatal valproic acid exposure.
- This pattern suggests a potential hereditary predisposition to valproic acid's adverse effects.
Findings:
- Hereditary susceptibility to valproic acid-induced teratogenicity is indicated by familial FVS occurrence.
- The risk of recurrence in future pregnancies appears elevated in susceptible families.
Implications:
- Genetic counseling for parents with prior exposure history is crucial.
- Consideration of hereditary factors is vital when prescribing valproic acid during pregnancy.
- Further research into genetic factors influencing FVS is warranted.
Abstract:
The fetal valproate syndrome (FVS) is characterized by distinctive facial appearance, major and minor malformations, and developmental delay. Generally, only a small proportion of prenatally exposed children are affected. The authors describe three families in whom the occurrence of FVS in all the siblings strongly suggests hereditary susceptibility to valproic acid-induced adverse outcome. The risk for recurrence in a subsequent pregnancy may be high and should be taken into account in the counseling of parents and in considering drug treatment.
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