Down Syndrome

A healthcare provider can suspect Down syndrome during pregnancy with prenatal screening tests. They can also diagnose this condition during pregnancy with diagnostic tests.

Prenatal screening tests

These tests assess your risk of having a child with Down syndrome rather than giving you a confirmation of a diagnosis. Screening tests could be a blood test of the birthing parent’s blood to look for indicators of Down syndrome. Another screening test is an ultrasound. During this imaging test, your provider will look for signs of Down syndrome, like extra fluid behind your baby’s neck. It’s possible that a screening test could be normal and not show signs of Down syndrome when the condition is present.

Diagnostic tests during pregnancy

Diagnostic tests during pregnancy can confirm a Down syndrome diagnosis. They usually take place after a positive screening test. Diagnostic testing offers more risk for the birthing parent and the developing fetus. Tests could include:

• Amniocentesis.
• Chorionic villus sampling (CVS).
• Percutaneous umbilical blood sampling (PUBS).

These tests can detect chromosomal changes that lead to a Down syndrome diagnosis.

How is Down syndrome diagnosed after birth?

After your baby is born, providers look for the physical signs of Down syndrome during a physical exam. To confirm the diagnosis, your baby’s provider may perform a blood test called a karyotype test. In this test, your baby’s provider will remove a small blood sample to study under a microscope. They’ll look for an extra 21st chromosome to diagnose the condition.

What if I find out that the fetus has Down syndrome?

If you find out the fetus you’re carrying has Down syndrome, your providers will direct you to resources to help you after the birth of your baby. You may want to participate in counseling or join a support group. Counselors and support groups help you prepare for raising a child with Down syndrome.

In support groups, you can talk with other parents about their experiences raising a child with Down syndrome. It’s a great way to share practical advice on managing the condition, its frustrations and joys. These groups offer a sense of belonging and give you support, so you know you’re not alone.