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Understanding Down Syndrome -- Diagnosis and Treatment

How Do I Know If My Child Has Down Syndrome?

Although a newborn's physical characteristics may lead doctors to suspect Down syndrome, a genetic test called a karyotype must be done to confirm the diagnosis. A karyotype involves testing a small amount of the baby's blood.

It is also possible to screen for and diagnose Down syndrome during pregnancy. A screening test estimates a woman's risk of having a child with Down syndrome. A diagnostic test determines whether the fetus has Down syndrome.

Understanding Down Syndrome

Find out more about Down syndrome:



Diagnosis and Treatment

Two blood tests, the triple screen and the alpha-fetoprotein, are the most common prenatal screening tests and are often done in combination with a detailed sonogram (ultrasound). These tests are usually offered to a pregnant woman between week 15 and week 20 of pregnancy. However, these tests also have a high number of false positives, or results that indicate Down syndrome when the condition is not really present. Any time the test comes back positive, further testing must be done to confirm the diagnosis. Also, some women may receive false-negative results; in other words, the test may fail to detect Down syndrome when it does exist.

The prenatal tests used to diagnose Down syndrome are chorionic villus sampling (CVS), amniocentesis, and percutaneous umbilical blood sampling (PUBS). These tests do carry a small risk of miscarriage, because they require insertion of a needle into the placenta or umbilical cord to examine the baby's chromosomes. These tests accurately diagnose Down syndrome 98% to 99% of the time. CVS is typically performed between eight and 12 weeks of pregnancy; amniocentesis is performed between 12 and 20 weeks; and PUBS can be done after 20 weeks. There are tests being developed that only require a sample of the mother's blood in order to test for certain fetal and maternal DNA fragments. These tests may prove to be more accurate, and less risky, than the tests being used now.

What Are the Treatments for Down Syndrome?

Although there is no cure for Down syndrome, children born with the condition can lead productive lives. Everyone born with Down syndrome exhibits some level of cognitive impairment, but this usually falls within the mild to moderate range. Just like other children, babies with Down syndrome will learn basic skills -- such as sitting, walking, talking, and self-care (such as toilet training and bathing) -- but they will do so at a delayed pace. Early intervention programs, including physical therapy, begun shortly after birth, can help strengthen muscles for these basic motor skills.

Regular medical care to treat the chronic health problems associated with Down syndrome is also important. Children with Down syndrome should receive regular vision and hearing testing, be evaluated for thyroid dysfunction, and receive the regular childhood immunizations.

Over the years, a variety of laws have been passed to provide people with disabilities, including Down syndrome, equal protection under the law. These laws include Section 504 of The Rehabilitation Act of 1973, the Education for All Handicapped Children Act of 1975, and the Americans with Disabilities Act of 1991. Children with Down syndrome can attend school, and many join regular classes. They are able to participate in recreational, vocational, and social activities in their communities.

Some adults with Down syndrome live with their families; some live in group homes with other individuals with Down syndrome; and others live independently. Many people with Down syndrome hold jobs. The opportunities for people with Down syndrome are great, and there is no reason not to expect these individuals to make lasting, positive contributions to society.

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