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Down Syndrome

Down syndrome is a condition that is caused by an individual having an extra copy of chromosome number 21. Certain tests can be done during a pregnancy to determine if your baby is at higher risk to have Down syndrome.

Symptoms

• Mental retardation
• Heart defects
• Poor muscle tone
• Developmental delay
• Delayed speech
• Characteristic facial features

Causes/Risk Factors

• Advanced maternal age (35+)
• Abnormal maternal serum screen result
• Balanced translocation carrier

Genetic Test/Carrier Screen

The following genetic tests may be appropriate based on your personal and/or family history.

• Diagnostic testing for chromosome abnormalities
  
  • Amniocentesis
  • Chorionic villus sampling (CVS)
• Maternal serum screening
  
  • First trimester screening or nuchal translucency screening
  • Second trimester (triple or quad) screening
  • Integrated or sequential screening

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

March of Dimes

American College of Obstetrics and Gynecology

Support Groups

National Down syndrome Society