Teratology Program

The projects underway include studies of the fetal effects of anticonvulsant drugs taken by pregnant women. One major activity is the North American AED (antiepileptic drug) Pregnancy Registry, which was established in 1997. Over 8,000 women in the United States and Canada have enrolled while pregnant. The apparent safety of over 30 different anticonvulsant drugs is being evaluated. Several significant new findings have been reported.

Another major project is the study of the causes of malformations identified in newborn infants at Brigham and Women’s Hospital. The Active Malformations Surveillance Program began in 1972 and has identified over 250,000 affected newborn infants. The apparent causes have been analyzed and tabulated and show a high degree of heterogeneity. This project is supported by funds provided by the National Birth Defects Prevention Study, which is coordinated by the Birth Defects Center at the Centers for Disease Control.

1. The occurrence of autism in children whose mothers took the anticonvulsant drug valproic acid during pregnancy
2. The correlation of midface and digit hypoplasia in children exposed during pregnancy to the anticonvulsant drugs phenytoin, carbamazepine and phenobarbital with cognitive function
3. Determining the pattern of anomalies and birth marks in children exposed to the prenatal diagnosis procedure chorionic villus sampling (CVS)
4. Determining the accuracy of ICD-9 codes in identifying malformations in newborn infants

1. Holmes LB, Westgate M-N. Inclusion and exclusion criteria for malformations in newborn infants exposed to potential teratogens.  Birth Defects Research (Part A) 2011.  In press.
2. Gold NB, Westgate M-N, Holmes LB.  Anatomic and etiological classification of congenital limb deficiencies.  Am J Med Genet Part A 155:1225-1235, 2011.
3. Holmes LB, Baldwin EJ, Smith CR, Habecker E, Glassman L, Wong SL, Wyszynski DF.  Increased frequency of isolated cleft palate in infants exposed to lamotrigine during pregnancy.  Neurology 70:2152-2158, 2008.
4. Hernandez-Diaz S, Mittendorf R, Holmes LB.  Comparative safety of topiramate during pregnancy.  Birth Defects Res (Part A) 88:408, 2010 (abstract).
5. Holmes LB.  Chorionic villus sampling and hemangiomas.  J Craniofac Surg 20 (Suppl 1):675-677, 2009.