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Preaxial ray reduction defects as part of valproic acid embryofetopathy
R Sharony1, A Garber, D Viskochil
1Medical Genetics Birth Defects Center, Cedars-Sinai Medical Center, Los Angeles, CA.
Insights
Prenatal exposure to valproic acid (VPA) is linked to neural tube defects and other developmental issues. This study confirms VPA exposure can cause severe limb reduction defects, supporting detailed prenatal limb evaluations.
Area of Science:
- Teratology
- Developmental Biology
- Medical Genetics
Background:
- Prenatal exposure to valproic acid (VPA) is a known teratogen associated with various birth defects.
- Reported VPA-associated defects include neural tube, craniofacial, skeletal, cardiovascular, and urogenital abnormalities.
- Radial ray reduction is a severe skeletal defect specifically linked to VPA exposure.
Abstract:
It is well known that prenatal exposure of valproic acid (VPA) may be associated with the occurrence of neural tube defects (Robert and Gibaud, 1982). Additional adverse effects related to VPA exposure include craniofacial abnormalities, skeletal defects, brain defects, cardiovascular defects, and urogenital defects (DiLiberti et al., 1984; Winter et al., 1987; Huot et al., 1987; Jager-Roman et al., 1986; Martinez-Frias, 1990). Recently, radial ray reduction has been reported as a severe type of skeletal defect associated with VPA exposure (Jager-Roman et al., 1986; Huot et al., 1987; Verloes et al., 1990). We report two additional cases of this severe limb reduction defect as part of a broader pattern of altered morphogenesis in fetuses exposed to VPA and to confirm an association between such severe specific skeletal defects and VPA exposure. We briefly review teratologic studies in experimental animals which document the biologic plausibility of this association, and suggest that fetuses exposed to VPA undergo detailed prenatal ultrasonographic evaluation of the limbs.