(DS; Trisomy 21)
by Debra Wood, RN
Down syndrome is a disorder of the genes. It can cause birth defects and other medical problems. There are 3 types of Down syndrome:
Chromosomes hold your DNA. Your DNA hold the plans for how your body grows and functions. There are 23 pairs of chromosomes. Down syndrome is a problem with pair 21. There is extra genetic material on pair 21. Each type of Down syndrome has its own genetic change:
Risk Factors TOP
Factors that increase the chance for Down syndrome include:
Infants born with Down syndrome may have some or all of the following physical features:
Overall health will vary from person to person. Talents, abilities, and pace of development will vary too. People with Down syndrome may be born with or develop:
Most of these health problems can be managed. Most with Down syndrome have a life expectancy of about 55 years.
The doctor may suspect Down syndrome at birth. Some features can be very distinct. A blood test will be done to confirm.
Down syndrome may also be found before birth. Prenatal tests may include:
A screening test is done to find out your risk of having a child with Down syndrome. Blood tests may include:
Screening may be done as early as 11 weeks of pregnancy. An ultrasound may also be done. It may show certain physical signs in the fetus.
A follow-up test may be done later if you have a negative test.
Sometimes a test may be positive even though Down syndrome is not present. Other tests may be done to help confirm the test result.
More invasive tests can take a tissue sample from the fetus. It will be used to examine genes and confirm Down syndrome. These tests include:
These tests are about 98% to 99% accurate. However, they also create a small risk of miscarriage. Discuss these risks and benefits with your doctor.
There is no cure for Down syndrome. However, most people with Down syndrome can be an active part of the community. This includes school, work, and recreation. Some people with Down syndrome live with family. Others live with friends or on their own.
Support care can help with developmental challenges. Medical care may be needed for other complications.
Infants and Children
Infants with Down syndrome may take longer to feed. A child with Down syndrome will also start to talk, walk, and play later than others. Your medical team will help to check milestones for your child. Living at home and support therapy will help a child reach their full potential.
Medical care for related issues, like heart valves, may also be needed. Some may require surgery.
Learning opportunities may be increased with:
Rehabilitation Services TOP
Therapy needs can vary. Options include:
Support Services TOP
Look for support services for you child. This may include:
Support groups can also be helpful for caretaker and person with Down syndrome.
There are no known steps to prevent Down syndrome.
National Down Syndrome Congress
National Down Syndrome Society
Canadian Down Syndrome Society
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Down Syndrome. National Institute of Child Health and Human Development website. Available at:
...(Click grey area to select URL)
Updated January 1, 2017. Accessed February 14, 2018.
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Malone FD, Canick JA, et al. First- and second-trimester evaluation of risk (FASTER) research consortium. First-trimester or second-trimester screening, or both, for Down's syndrome. N Engl J Med. 2005;353:2001-2011.
3/12/2010 DynaMed Plus Systematic Literature Surveillance http://www.dynamed.com/topics/dmp~AN~T115414/Down-syndrome: Carter M, McCaughey E, et al. Sleep problems in a Down syndrome population. Arch Dis Child. 2009;94(4):308-310.
Last reviewed February 2018 by EBSCO Medical Review Board Rimas Lukas, MD
Last Updated: 5/7/2014
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