Malformations in offspring of women with epilepsy: A prospective study

Purpose: The incidence of malformations among infants of mothers with epile psy treated with antiepileptic drugs (AEDs) during pregnancy is higher than that found in the general population. The aim of this study was to contrib ute to providing a definition of the rate of congenital anomalies in the of fspring of mothers with epilepsy and to detect possible risk factors. Methods: Since 1977, 517 pregnancies were followed up at the San Paolo Hosp ital in Milan by a team of epileptologists and obstetricians. The patients received monthly obstetric and neurologic examinations, and the blood level s of AEDs were tested monthly. During pregnancy the patients underwent ultr asound investigations to evaluate fetal morphology and development. At the time of delivery, the infants were submitted to a standardized examination by a pediatrician, and a more detailed clinical examination was performed o n day 5. Malformations were classified as (a) genetic and chromosomic, (b) severe and mild malformations, and (c) deformities. Results: The overall rate of malformations was 9.7%: of these, 5.3% were st ructurally severe, 2.2% were mild, 0.4% were chromosomic-genetic, and 1.8% were deformities. No malformation was detected in the 25 untreated patients . Conclusions: The risks of teratogenicity have been regarded as multifactori al, involving such factors as genetic predisposition, although most prospec tive studies show that AED-related factors are the primary risk factors for an increased incidence of congenital malformations.