Question: What kind of doctor can help find out what caused my baby's birth defect?
Answer: 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% 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" (name or cause) 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.
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