Preconception carrier screening is genetic testing that is ideally done before pregnancy to allow time for couples to consider their options and make appropriate choices, consistent with their attitudes and beliefs.

This type of testing identifies whether a couple are carriers of genetic conditions that could affect their future children. If both partners carry mutations (changes) in the same recessive gene, there is a 1 in 4 (25%) chance that they could have a child affected with a genetic condition.

Carrier screening can be arranged for conditions found more commonly in specific ethnic groups. Additionally, expanded carrier screening is now available, which tests for conditions prevalent in both ethnic specific groups and the general population. We help couples decide which test to complete and assist them to understand the consequences of their results.

Results of preconception carrier testing applies to all future pregnancies a couple may have together.