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Birth Defects

Birth defect is a general term to describe any abnormality outside of the typical development of an organ or body structure. Collectively, birth defects are very common occurring in approximately 3% of the general population. Birth defects usually happen by random chance, but they can sometimes run in families.

Causes/Risk Factors

• Family history of birth defects or genetic conditions
• Prenatal exposures including certain infections, alcohol and certain medications

Genetic Test/Carrier Screen

The following tests can detect some birth defects in a pregnancy and may be appropriate based on your personal and/or family history.

• Diagnostic testing
  
  • Amniocentesis
  • Chorionic villus sampling (CVS)
• Maternal serum screening
  
  • First trimester screening or nuchal translucency screening
  • Second trimester screening (triple or quad screen)
  • Integrated or sequential screening
• Targeted ultrasound examination
• Blood draw for carrier screening

See our pre-conception and prenatal services

Schedule an Appointment

To speak with a board-certified genetic counselor about your risks for this disease:

• Schedule genetic counseling appointment online
• Or call 1-800-975-4819
• Send email

Learn More

Medline Plus-National Institutes of Health

March of Dimes

Center for Disease Control and Prevention