Genetic Screening

The goal of genetic screening is to help identify a person’s chance of having a baby with Down syndrome, trisomy 18, an open neural tube defect and some other chromosomal abnormalities. There are multiple options and range from those that are covered by your BC Medical Card to those that are private pay options. It is your choice whether or not to have genetic screening. 

Genetic screening options range from blood tests to ultrasounds and other more invasive techniques such as amniocentesis. 

For the most up-to-date guide on options available, as well as a decision-making guide, please read this information by Perinatal Services BC.

If you or your family have a history of known genetic variations, your pregnancy may be eligible for a larger variety or type of testing. If your ethnic background has a higher than average incidence of certain diseases (e.g. thalassemia, Tay Sachs, etc.), then you and/or the father/donor of your baby may be offered additional testing.  At any time, you may request a consult with a medical geneticist to look into your personal, family and/or ethnic risks, and further review what options you have, as well as what testing is available.

Let your midwife know if any of this might apply your situation. Genetic screening is an important informed choice discussion to have with your midwife in the first trimester.