Individuals often have no knowledge that they are carriers of a genetic condition. Carriers will have one healthy copy of the gene that works well enough to prevent them from developing symptoms of the condition. In contrast, children affected by these conditions have no working copies of the gene. Inheritance of these genetic conditions can happen in two main ways: Autosomal recessive and X-linked inheritance.

Autosomal recessive conditions: If both the male and female individuals are found to be carriers of a variant in the same gene, there is a 1 in 4 (25%) chance of having a child affected by that genetic condition. Most of the screened conditions are autosomal recessive.

X-linked conditions: Female carriers of an X-linked condition (caused by a gene on the X chromosome) have up to a 1 in 2 (50%) chance of having a child affected by that genetic condition, irrespective of the male reproductive partner’s carrier status.

Genetic Carrier screening may be suitable regardless of your family history, genetic ancestry, or age. Most children born with a genetic condition will not have a family history of the condition. Nevertheless, if you are aware of a family history of a genetic condition, it is important to discuss this with your doctor.

Unlike chromosomal conditions (e.g., Down syndrome) that occur more commonly with advanced maternal age, the risk of being a carrier of a genetic condition does not vary with age. We are born with our genetic variants, usually inherited from our parents, and these do not change over time.

The ideal time for reproductive carrier screening is when planning a pregnancy. Screening before becoming pregnant gives couples the widest array of reproductive options. Genetic Carrier screening is also commonly used in early pregnancy.

Genetic Carrier screening results will inform your reproductive decision making. Couples identified as being at high risk of having a child with a genetic condition will have the option of screening embryos with preimplantation genetic testing (PGT) before pregnancy, or the option of testing a baby during pregnancy. Having this information allows couples to make reproductive choices right for them to ensure they have the highest chance of having a healthy family.

Virtus Genetics is a leading provider of PGT in Australia. A Medicare rebate for PGT is now also available for couples at risk of having children affected by a genetic condition.