Questions to Ask Your Doctor or Genetic Counselor About: Family History of Birth Defects

by the Wiser Pregnancy team

• Given my and my partner’s family medical history, are we at higher risk of having a baby with a genetic disease or birth defect?

• What other factors besides family history may put us at higher risk of having a baby with an abnormality?

• Would you recommend family history (carrier) screening? What does carrier screening entail?

• If we have the screening, would just my partner and I be screened, or would other family members be screened too?

• What would we do with the results from the screening?

• What are our options if one of us is a carrier for certain conditions?

• What other tests can we choose from in addition to or instead of carrier screening?

• What are the advantages and disadvantages of the various tests?

• What condition(s) should we be concerned about passing on to our children? What are the chances that my children have this condition?

• What causes this condition?

• What are the signs and symptoms of this complication?

• How severe is this defect or disease? What are the long-term effects of this condition?

• What is the life expectancy of someone with this condition?

• How is this condition treated? What special care does a person with this condition require?

• Is there a cure for this condition?

• What other healthcare professionals should we see if our children have this condition?

• Will this condition improve or worsen over time?

• What tests are available to screen for or diagnose this condition?

• How accurate are the tests for this condition?

• What risks do the tests carry?

• Is this condition passed from one generation to the next?

• Can a person who doesn’t have this condition have a child who does?

• How will this diagnosis affect my health/life insurance?

• Where can I go for a second opinion?

• What are the medical costs likely to be?

• Is there financial assistance available for individuals with this condition?

• Are there organizations or support groups where I can talk to other people whose children have this condition? Do you have any information I can take with me to read?

• When might it be appropriate to see you again?

These questions are based on research published by publicly available and private medical information sources on the topic.

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