How many chromosomes does a person with Down syndrome have?

Yes, Down syndrome can be tested before birth through prenatal screening and diagnostic tests. In Australia, two main types of tests are available:

1. Screening tests (non-invasive) – These include blood tests and ultrasounds in the first trimester, or the newer Non-Invasive Prenatal Testing (NIPT), which looks at the baby’s DNA from a maternal blood sample. Screening does not give a definite answer but shows the likelihood of Down syndrome.
2. Diagnostic tests (invasive) – These include Chorionic Villus Sampling (CVS) and Amniocentesis, which analyse the baby’s chromosomes. These tests give a clear diagnosis but carry a small risk of miscarriage.

Parents are usually offered genetic counselling to understand their options.

If you’d like support in understanding prenatal testing and what it means for your family, book consultation now.