Birth Defects and the Health Care Provider’s Role

Group of doctors

A health care provider plays an important role in the care of a child with a birth defect. The health care provider is most often the child’s pediatrician or the family’s general physician.


When there is a health problem with a child, the health care provider might look for birth defects by asking questions about medical and family history, doing a physical exam, and sometimes recommending testing. After reviewing these items, if a diagnosis cannot be made, the health care provider might refer the child to a specialist in clinical genetics. A clinical geneticist is a doctor with special training to evaluate patients who may have birth defects or genetic conditions.Even if a child sees a specialist, an exact diagnosis may not be reached.

Coordinated Care

Because children with birth defects often require a variety of services, coordinated care between doctors and therapists from different specialties is often recommended. The health care provider is generally the best person to coordinate the special care needed for a child with a birth defect. For example, children with birth defects involving their bones might need to see an orthopedist, a doctor trained in problems of the bones. A child with a birth defect involving the brain might need to see a neurologist, who is trained to deal with problems in the brain and nervous system. The health care provider might also send the child for special services that will help the child function better. For example, a child with a cleft palate may be sent to a speech therapist, someone with special training who works with people to help with feeding or to improve their ability to talk. Another common referral is for physical therapy to improve the child’s strength and movement. Many children with birth defects have more than one problem and may need one or more specialists.

Counseling and Support

Supporting the family of a child with a birth defect is part of the health care provider’s job. The health care provider should know about sources of help for the child and the family. Help may include support groups, public health and medical services, and current medical information. Health care providers might refer some parents to a genetic counselor to help them learn more about their child’s condition. Genetic counselors explain the diagnosis, the possible role of genes, and medical aspects of certain birth defects. 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.

If your child has a birth defect, you should ask his or her health care provider about local resources and treatment.