Summary

• Down syndrome is a genetic disorder where you inherit an extra chromosome from one of your parents.
• Most people with Down syndrome are born with 3 copies of chromosome 21 in every cell (most people have only 2).
• Everyone with Down syndrome has some level of cognitive (mental) impairment, ranging from mild to severe.
• Down syndrome is usually diagnosed before birth, but some babies are first diagnosed after they’re born.
• If your child has Down syndrome, make sure they see their doctor regularly to monitor any related health conditions.

These key facts are from healthdirect.gov.au (accessed 28 Jan 2025). Visit the healthdirect website for more information about Down syndrome.

Relevant Tests

If your doctor suspects you have Down Syndrome, they may request one or more tests.

If you are diagnosed with Down Syndrome, some of these tests will be used to monitor and manage your condition.

Find information about specific tests:

• Prenatal Testing
  • Non-Invasive Prenatal Testing (NIPT)
• Postnatal Testing
  • Chromosome studies