Exams and Tests

Testing during pregnancy

There are two types of tests for birth defects: screening and diagnostic. You may decide to have:

• A screening test. This can show the chance that a baby has Down syndrome. It can't tell you for sure that your baby has it. If the test result is "positive," it means that your baby is more likely to have Down syndrome. So your doctor may want you to have a diagnostic test to make sure. If the screening test result is "negative," it means that your baby probably doesn't have Down syndrome. But it doesn't guarantee that you will have a normal pregnancy or baby.
• A diagnostic test. This test can show if a baby has Down syndrome.

The decision to have a test for birth defects is personal. You have to think about your age, your chance of passing on a family disease, your need to know about any problems, and what you might do after you have the test results. Your spiritual beliefs and other values also may affect your decision.

To learn more about testing during pregnancy, see the topic Birth Defects Testing.

Diagnosis after birth

If Down syndrome was not diagnosed before your baby was born, doctors can often get a clear sense of whether your child has Down syndrome by how your baby looks and by doing a physical exam. But traits can be subtle in a newborn, depending on the type of Down syndrome that he or she has.

To confirm a diagnosis, a newborn will have a blood sample taken for chromosomal analysis, called a karyotype test.

Waiting for a formal diagnosis can be stressful. Try to focus on caring and bonding with your newborn and getting the help you need. Your doctor or hospital may also be able to refer you to local resources and support groups. For more information, see Treatment Overview.

Telling others

Another challenge parents may face is finding a way to tell family members and friends about their child's condition. If you don't learn that your baby has Down syndrome until after he or she is born, you will have little time to absorb the information before you need to answer questions from excited family and friends who are eager for news.

The best approach may be to simply state the facts, such as, "Our baby was diagnosed with Down syndrome." If you aren't ready to talk about your child's condition beyond that, say so. You may feel able to tell only one or two people. If this is the case, consider asking them to share the news with others. Of course, there is no right or wrong way to tell people. Know that there are resources to help you.

Regular checkups throughout life

Like all children, your child needs well-baby and well-child visits. He or she also needs regular checkups so your doctor can look for early signs of health issues that are common in people who have Down syndrome. The sooner health issues are found, the more easily they can be managed.

The American Academy of Pediatrics has guidelines about when and how often to check for certain health issues in children who have Down syndrome. The Down Syndrome Medical Interest Group also has health care guidelines for people who have Down syndrome.