Birth Defects: Answers to Your 13 Most-Asked Questions

13. How can I find out what caused my baby's birth defect?
Birth defects are common in our country. Some birth defects are found before birth, some at the time of birth, and some are found during the first year of life. A few don't show up until the child is older. It is common for parents to want to know what caused their baby's birth defect. However, the causes for about 70 percent birth defects are unknown.

A primary care provider (PCP) usually looks at a child who may have a birth defect. The PCP is most often the child's pediatrician or the family's general physician. PCPs look for important clues in the child's first exam for a birth defect. The first exam includes a lot of questions about history, a physical exam, and sometimes testing. The PCP is trying to find a diagnosis for the child's type of birth defect. If a diagnosis cannot be made after the first exam, the PCP may refer the child to a specialist in birth defects and genetics. A clinical geneticist is a doctor with special training to evaluate patients who may have genetic conditions or birth defects. Even if a child sees a specialist, an exact diagnosis may not be reached.

Counseling the family of an infant with a birth defect is a large part of the PCP's job. PCPs may refer parents to a genetic counselor to help parents learn more about their infant's condition. A genetic counselor explains the diagnosis, the possible role of genes, and medical aspects of the birth defect. A genetic counselor can talk with parents about their risk of having future children with a birth defect. He or she also talks with parents about how to lessen their chances of having another baby with birth defects. Counseling can help a family adjust to and plan for their newborn.

Definitions that May Be Helpful
Anencephaly
A fatal birth defect that happens when the neural tube does not fully close at the top. As a result, the skull and brain do not form properly. Babies with anencephaly die before or shortly after birth.

Encephalocele
A birth defect that is often fatal. Part of a baby's skull does not form properly, and part of the brain is outside of the skull. Those babies who do survive often have severe physical and mental handicaps.

Neural tube
The tube along the back of an embryo which later becomes the spinal cord and brain.

Neural tube defect (NTD)
Problems in the growth of the spinal cord and brain in an embryo, when the neural tube doesn't close at the top (anencephaly) or the bottom (spina bifida). The defects occur in the first month of pregnancy, before most women know they are pregnant. About seven babies are born in the U.S. each day with these birth defects.

Spina bifida
A birth defect of the backbone and spinal cord that leaves the spinal cord exposed. A person with spina bifida may have learning disabilities or problems going to the bathroom because of lack of bowel and bladder control, and usually needs crutches or a wheelchair to get around. Eighty to ninety percent of babies with spina bifida survive, and most lead productive lives.

Source: Centers for Disease Control and Prevention

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