What is genetic testing?

There are 2 types of genetic testing:

1. Genetic screening
2. Genetic diagnosis

Genetic screening is usually done during the first or second trimester of pregnancy to give you information about the chances your baby will have certain genetic conditions, like Down syndrome (an extra copy of chromosome 21). Down syndrome is not usually inherited, but is a change in the number of chromosomes that occurs at conception. A screening test tells your health care provider if more testing needs to be done to make a diagnosis.

Genetic diagnosis gives a ‘yes’ or ‘no’ answer about certain conditions. It may be done before pregnancy. Genetic diagnosis can give you information about:

• if you carry a change in a gene that causes certain diseases, like cystic fibrosis or sickle cell disease and if your partner should be offered testing
• if your baby has a genetic condition such as Down syndrome

Depending on your needs, your health care provider may offer genetic testing for you or your partner.