Primary Care in Rochester and Kasson

What is Down syndrome?

11/15/2021 by Maja Katusic, M.D.


One in 700 babies, or about 6,000 per year, are born with Down syndrome. Babies are usually born with 46 chromosomes, or "groups" of material, they inherit from their parents. However babies with Down syndrome have an extra copy of a chromosome, and this extra copy changes their bodies. People with Down syndrome usually have multiple medical and learning challenges.

What is the test for Down syndrome?

Your health care provider can test for Down syndrome during pregnancy using a blood test or other procedures, depending on when you are tested in pregnancy. You can choose whether you would like this testing during pregnancy.

After birth, babies can be tested for Down syndrome using a blood test if a health care provider sees signs of Down syndrome.

What medical problems accompany Down syndrome?

People with Down syndrome can have multiple possible medical complications, including vision and hearing problems, heart defects, sleep difficulties, or stomach issues. Your child's health care provider will check for these potential problems. Not all people with Down syndrome have all these medical issues.

What learning issues accompany Down syndrome?

Children with Down syndrome learn motor and language skills slower than children without Down syndrome. This is known as "developmental delay." Almost all people with Down syndrome have intellectual disability or low IQ, which includes difficulty learning and trouble with activities of daily life. These difficulties can be mild to severe.

Can people with Down syndrome lead a meaningful life?

Yes, people with Down syndrome can still have meaningful friendships, and they can date and marry. Many job opportunities are available, as well, including in banks, hotels, hospitals and offices, as well as in the entertainment industry and child care.

How can I learn more about Down syndrome?

You can find more information on the National Down Syndrome Society or the Centers for Disease Control and Prevention websites. You also should speak to your child's health care provider for more information about Down syndrome.

Maja Katusic, M.D., is a developmental and behavioral pediatrician at Mayo Clinic in Rochester. In addition to her clinical activities, she is involved in research with a special focus on risk factors and outcomes in autism spectrum disorder.