Talking with Your Healthcare Provider about Birth Defects

Key points

  • Healthcare providers play an important role in the care of a child with a birth defect.
  • Your child's pediatrician or your family's general physician may serve as the main point-of-contact.
  • Providers may help support your family with the diagnosis process, with coordinating care, or by providing resources to community supports.
A doctor talks with a child and parent.


When there is a health concern with your child, the healthcare provider will assess possible diagnoses. This process may include asking questions about medical and family history, doing a physical exam, and possibly recommending testing.

After reviewing these items, if a diagnosis cannot be made, the provider might refer your child to a specialist. Even if your 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 the different specialists is recommended. Your child's main healthcare provider is generally the best person to coordinate the special care needed.

For example, children with birth defects involving their bones might need to see an orthopedist, a doctor specializing in bones. Your child's healthcare provider might also send your child for special services that will help with specific skills. A common referral is for physical therapy to improve the child's strength and movement.

Many children with birth defects need to see one or more specialists.

Counseling and support

Supporting the family of a child with a birth defect is part of the healthcare provider's job. Your child's provider can recommend sources of help for your child and your family. Help may include support groups, public health and medical services, and current medical information.

Providers might refer some parents to a genetic counselor to help them learn more about their child's condition. Genetic counselors can explain the diagnosis, the possible role of genes, and medical aspects of certain birth defects. A genetic counselor can talk with you about your risk of having future children with a birth defect. Counseling can help your family adjust to and plan for your child's future.

If your child has a birth defect, ask their provider about local resources and services.