How Is Down Syndrome Diagnosed?

How is Down syndrome diagnosed?

The American College of Obstetricians and Gynecologists recommends all pregnant women regardless of age to do screening tests and diagnostic tests for Down syndrome:

  • Screening tests such us blood test, nuchal translucency test and integrated screening test. They can indicate the likelihood or chances that a mother is carrying a baby with Down syndrome. But these tests can’t tell for sure or diagnose whether the baby has Down syndrome.
  • Diagnostic tests such as chorionic villus sampling (CVS) and amniocentesis. They can identify or diagnose whether your baby has Down syndrome.

Your health care provider can discuss the types of tests, advantages and disadvantages, benefits and risks, and the meaning of your results. If appropriate, your provider may recommend that you talk to a genetics counselor.

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