Birth defects, which occur in nearly one in 20 pregnancies, range in severity from minor abnormalities to extensive genetic disorders or mental retardation. Some people have a greater than average risk of having a child with a birth defect.

Genetic screening refers to the use of specific tests to determine which members of a population are at increased risk for an inherited condition.

Genetic testing is the use of specific tests to learn more about the genetic status of an individual who is suspected to be at increased risk for an inherited disease.

These terms are frequently used interchangeably. Genetic screening before pregnancy may help identify couples who have an increased risk of age-related or familial genetic disorders and birth defects. No single test, however, can accurately predict the risk of all defects in a child, and many birth defects, such as those related to environmental and toxic exposures and those that are random and unexplained, are not genetically based and may not be detected with genetic screening.

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