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CARESS - What is a Birth Defect? - Logo

A birth defect is any physical, mental or biochemical abnormality present at birth. It can affect how the body looks, works or both. It may be found during the pregnancy, at birth or a few years after birth. Some are easily recognized, while others can only be identified by specialized testing. A birth defect could range from mild to severe, even ending in death. With advanced medical technolgoy, many congenital abnormalities can be corrected.

In the United States, birth defects have been the leading cause of infant death for the past 20 years. This means one in five infant deaths is a result of a birth defect. About 150,000 (4%) of all babies born each year have a birth defect. In West Virginia between 1990 and 1999, 8,096 babies were diagnosed with a congenital abnormality. Many birth defects happen before a woman even knows she is pregnant. Since about half of all pregnancies are unplanned, it is important that prevention begins before pregnancy. Any woman of reproductive age that is thinking of having a child in the future should be aware of prevention efforts.

Known causal affects of congenital abnormalities can be classified as follows:

  • chromosomal (either hereditary or occurring during conception)

  • environmental exposures ( i.e., cigarettes, drugs, medications, chemicals, solvents); and

  • mother’s illness/infections (this can be viral or bacterial)

Although the awareness of these factors has increased over the last several years, many causes are still unknown. To make these efforts even more difficult, the same anomaly may have different causes in each individual pregnancy.

Some of the more common birth defects include Congenital Heart Defects, Cleft Palates, Spina Bifida, Fetal Alcohol Syndrome and Down’s Syndrome.

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