Malformations due to presumed spontaneous mutations in newborn infants

Article Abstract:

All major malformations of stillborn and live-born infants who were at carried for at least 20 weeks of pregnancy were tabulated over a 10-year period at a major Boston teaching hospital. In all, 69,277 infants were included in the study, of which 48 infants with major congenital deformities presumably due to a single mutant gene were identified. Of these, 11 malformed infants were identified who were likely produced by a spontaneous genetic mutation. The researchers determined the spontaneous mutation rate per gene site in this population to be on the order of 7 to 14 per million for those types of malformations which affected only one or two individuals out of the total sample. The process of delineating a 'spontaneous' genetic mutation does have several limitations, which are discussed. However, the data strongly suggest that counseling of parents should include the fact that spontaneous genetic mutations do occur (that is, there are mutations that are not inherited), and that these can cause deformities in the children of perfectly normal parents. The age of the parents did not make a significant difference in the rate of observed malformations.

Research, Genetic disorders, Mutagenesis

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Pattern of malformations in the children of women treated with carbamazepine during pregnancy

Article Abstract:

A drug called carbamazepine causes birth defects. Of children born to women who had been exposed to the drug, eleven percent had deformed faces or skulls, a quarter had underdeveloped fingernails and a fifth were developmentally delayed. The fact that children with a medical problem caused by a chemical similar to this drug are similarly deformed suggest that it is not the durg itself that is causing the problem, but rather some other chemical that is produced by the breakdown of both the durg carbamazepine and the chemical similar to it.

Causes of, Prenatal influences, Teratogenesis, Carbamazepine

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The teratogenicity of anticonvulsant drugs

Article Abstract:

The increased risk of birth defects in babies of women with epilepsy appears to be caused by anticonvulsant drugs taken during pregnancy rather than by the epilepsy itself. This was the conclusion of researchers who studied 128,049 pregnant women.

Risk factors, Drug therapy, Epilepsy, Pregnancy, Anticonvulsants, Epilepsy in pregnancy

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