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Questions and Answers about Birth Defects

What is a birth defect?

A birth defect, sometimes called a congenital anomaly, is a problem that occurs with a baby’s normal development during pregnancy. Birth defects are often described as structural, functional or chemical problems that cause physical or mental disability. Most serious birth defects happen during the first 3 months of pregnancy.
The severity of a birth defect can range from mild to severe. Although some birth defects can cause a baby to die, many babies with birth defects can live a full life when they receive the help they need. Some babies may need surgery, medical treatments or therapy to get better.

How often do birth defects occur?

In the United States, about 3 percent of babies are born with major birth defects. Each year in North Carolina, about 4,000 babies are born with a serious birth defect.
The most common birth defects are heart defects ("cardiovascular defects"), defects of the spine and brain ("neural tube defects") and defects of the lip and roof of the mouth ("orofacial clefts"). These types of birth defects together represent about 40 percent of all serious birth defects in North Carolina.

How is a birth defect diagnosed?

Birth defects can be diagnosed before birth or anytime after birth. However, most birth defects are found within a baby’s first year of life. A primary care provider, such as the baby’s pediatrician, will look for birth defects during the baby’s first exam. Though some defects are easy to see, others are not easy to see and require special tests for diagnosis. The primary care provider may refer the baby to a specialist, such as a clinical geneticist, to help with a diagnosis. For some babies, a specific diagnosis may be difficult to make.
Sometimes a birth defect is diagnosed while the baby is still inside the mother ("prenatal diagnosis"). When this happens, the family may be referred to a genetic counselor to learn more about their baby’s birth defect.

What causes birth defects?

The cause of most birth defects is unknown. Some birth defects have been linked to genetic factors, illness in the mother or environmental influences. Some things ("risk factors") may increase the chances of having a baby with a birth defect. For example, smoking cigarettes during pregnancy has been linked with an increase in several types of birth defects.

Can birth defects be prevented?

Some birth defects are preventable, but others cannot be prevented. However, there are many things a woman can do to increase her chance of having a healthy baby.

How can I find out more about a specific kind of birth defect?

To find out more about a specific kind of birth defect, check out the NCBDMP 2006 report "Birth Defects in North Carolina" or view a list of other resources that focus on specific birth defects. Our colleagues in Texas created comprehensive Risk Factor Reports External link for various birth defects; you can also find definitions for technical words about birth defects in their Glossary of Birth Defects Terms. External link