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Down syndrome is a condition in which a person has an extra chromosome or an extra piece of a chromosome. This extra copy changes how a baby's body and brain develop. It can cause both mental and physical challenges during their lifetime. Even though people with Down syndrome might act and look similar, each person has different abilities.

Chromosomes are tiny "packages" in your cells that contain your genes. Genes carry information, called DNA, that controls what you look like and how your body works. People with Down syndrome have an extra copy of chromosome 21. In some cases, they may have an extra copy of part of the chromosome. Having an extra copy of a chromosome is called trisomy. So sometimes Down syndrome is also called trisomy 21.

Down syndrome is usually not inherited. It happens by chance, as an error when cells are dividing during early development of the fetus. It is not known for sure why Down syndrome occurs or how many different factors play a role.

One factor that increases the risk of having a baby with Down syndrome is the age of the mother. Women ages 35 and older are more likely to have a baby with Down syndrome.

The symptoms of Down syndrome are different in each person. And people with Down syndrome may have different problems at different times of their lives. They usually have mild to moderate intellectual disabilities. Their development is often delayed. For example, they may start talking later than other children.

Some of the common physical signs of Down syndrome include:

• A flat face
• Eyes that slant up
• A short neck
• Small hands and feet
• Poor muscle tone
• Loose joints

Many people with Down syndrome have the common physical signs and have healthy lives. But some people with Down syndrome might have one or more birth defects or other health problems. Some of the more common ones include:

• Hearing loss
• Sleep apnea (a disorder that causes you to repeatedly stop breathing during sleep)
• Ear infections
• Eye diseases
• Congenital heart defects (heart defects that are present at birth)
• Digestive problems
• Problems with the upper part of the spine
• Obesity

Health care providers can check for Down syndrome during pregnancy or after a child is born.

There are two basic types of tests that help find Down syndrome during pregnancy:

• Prenatal screening tests can show whether your unborn baby has a higher or lower chance of having Down syndrome. If a screening test shows that your baby could have Down syndrome, you'll need another test to find out for sure.
• Prenatal diagnostic tests can diagnose or rule out Down syndrome by checking the chromosomes in a sample of cells.

These tests have a small risk of causing a miscarriage, so they're often done after a screening test shows that an unborn baby could have Down syndrome.

After a baby is born, the provider may make an initial diagnosis of Down syndrome based on the physical signs of the syndrome. The provider can use a karyotype genetic test to confirm the diagnosis. The test can check for extra chromosomes in a sample of the baby's blood.

There is no single, standard treatment for Down syndrome. Treatments are based on each person's physical and intellectual needs, strengths, and limitations.

Services early in life focus on helping children with Down syndrome develop to their full potential. These services include speech, occupational, and physical therapies. They are typically offered through early intervention programs in each state. Children with Down syndrome may also need extra help or attention in school, although many children are included in regular classes.

Since people with Down syndrome can have birth defects and other health problems, they will need regular medical care. They may need to have certain extra health screenings to check for problems that happen more often in people with Down syndrome.

Centers for Disease Control and Prevention

Prenatal testing provides information about your baby's health before he or she is born. Some routine tests during pregnancy also check on your health. At your first prenatal visit, your health care provider will test for a number of things, including problems with your blood, signs of infections, and whether you are immune to rubella (German measles) and chickenpox.

Throughout your pregnancy, your health care provider may suggest a number of other tests, too. Some tests are suggested for all women, such as screenings for gestational diabetes, Down syndrome, and HIV. Other tests might be offered based on your:

• Age
• Personal or family medical history
• Ethnic background
• Results of routine tests

There are two types of tests:

• Screening tests are tests that are done to see if you or your baby might have certain problems. They evaluate risk, but do not diagnose problems. If your screening test result is abnormal, it does not mean that there is a problem. It means that more information is needed. Your health care provider can explain what the test results mean and possible next steps. You may need diagnostic testing.
• Diagnostic tests show whether or not you or your baby have a certain problem.

It is your choice whether or not to get the prenatal tests. You and your health care provider can discuss the risks and benefits of the tests, and what kind of information the tests can give you. Then you can decide which ones are right for you.

Dept. of Health and Human Services Office on Women's Health