Down Syndrome Tests
Explanation
Down syndrome tests during pregnancy include screening tests that estimate chance and diagnostic tests that can confirm whether the fetus has Down syndrome.
What is the difference between screening and diagnosis?
Screening tests estimate the chance that a fetus has Down syndrome. They may use a pregnant person’s blood test, an ultrasound scan, or both. A higher-chance result does not confirm Down syndrome, and a lower-chance result cannot completely rule it out.
What happens after a screening result?
A screening result is interpreted with factors such as the stage of pregnancy and the type of screen. Depending on the result and the person’s preferences, the next step may be no further testing, another screen, or a diagnostic test.
Which tests can confirm Down syndrome?
Chorionic villus sampling, often called CVS, and amniocentesis are diagnostic tests. They collect different pregnancy samples so fetal cells or genetic material can be examined. These procedures answer a different question from screening and have their own benefits and risks.
What can a diagnostic result tell you?
A diagnostic test can establish whether Down syndrome is present. It cannot predict exactly how the condition would affect an individual child’s health, learning, or development.
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