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Genetics

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Research

Active Malformations Surveillance Program
The Active Malformations Surveillance Program has been conducted since 1972 to identify all infants born with major malformations at Brigham and Women’s Hospital. The project is now supported by a subcontract from the Mass. Department of Public Health to MGH. The Principal Investigator is Dr. Lewis Holmes. In this study the frequencies of many major malformations have been determined. Attention has been given to the many genetic and non-genetic causes of abnormalities, such as congenital diaphragmatic hernia and renal agenesis. This project is part of the National Birth Defects Prevention Study, an eight-state consortium coordinated by the Birth Defects Center at the Centers for Disease Control in Atlanta.

North American AED (antiepileptic drug) Pregnancy Registry
The North American AED (antiepileptic drug) Pregnancy Registry was established by Dr. Holmes at MGHfC in 1997. Pregnant women taking antiepileptic drugs for any medical reason are enrolled by telephone and interviewed three times. The goal is to determine the frequency of major malformations in her infant who had been exposed to one of the many different anticonvulsant drugs. The Registry has published significant findings for exposure to three different drugs as monotherapy: phenobarbital, valproate and lamotrigine. All findings for all drugs will be published in 2007 and 2008.

Anticonvulsant Follow-up Study
The Anticonvulsant Follow-up Study has been underway since 1990. Children ages 4 to 16 have been evaluated to determine whether or not exposure during pregnancy to an anticonvulsant drug has caused deficits in IQ and any physical abnormalities. The drugs studied have included phenytoin (Dilantin), carbamazepine (Tegretol), phenobarbital, lamotrigine and valproate. The developmental psychologist who has supervised and carried out the intelligence testing is Jane Adams, Ph.D., Professor of Psychology at the University of Massachusetts, Boston. Dr. Leslie Will, an orthodontist at the Harvard Medical School of Dental Medicine, and Dr. Brent Coull, a biostatistician at the Harvard School of Public Health, are major collaborators.