Understanding your genetic carrier screening results
WHAT IS A LOW CHANCE RESULT?
A low chance result means that the couple have a low chance of having a child with any of the genetic conditions screened.
Whilst a low chance result can provide reassurance to the couple, it is important to be aware of the following information:
- The chance the couple may have a child with any of the genetic conditions screened through this study is reduced, but not eliminated. Due to limitations in genetic testing techniques, there remains a small possibility that a fault present in a gene was not detected.
- This screening test does not include every genetic condition. Screening is only performed for the conditions included in the test, and the couple may still be genetic carriers for a condition not included in the screening provided through this study.
- This screening test does not replace any of the other screening tests and ultrasounds usually recommended during pregnancy. Couples who are planning a pregnancy, or are in early pregnancy, should speak to their healthcare provider about all screening options available to them.
- The result is only relevant to the couple screened. If either member of the couple chooses to have a child with a new partner, repeating reproductive genetic carrier screening with the new partner is recommended.
- This factsheet provides further information about the meaning of a low chance result in Mackenzie’s Mission.
WHAT IS AN INCREASED CHANCE RESULT?
An increased chance result means that the couple have an increased chance of having a child with a particular genetic condition. In this situation, the couple’s chance of having a child with the condition is usually 25% for each pregnancy.
Couples who received an increased chance result were supported by a genetic counsellor to discuss their result and the genetic condition, options for further testing and family planning, and what the results might mean for family members.
It is important to be aware that the screening performed is only relevant to the couple screened. If either member of the couple chooses to have a child with a new partner, repeating reproductive genetic carrier screening with the new partner is recommended.
To see other commonly asked questions about participating in Mackenzie’s Mission, click here.
If you would like to discuss your Mackenzie’s Mission screening result further, please contact our study team.