Genetic tests are offered either as a single carrier gene test, a 3-gene carrier screen or an expanded carrier gene. The expanded carrier screen is checking for many common and rare inherited conditions. Depending on your medical history and your reasoning for genetic screening your fertility specialist will guide you in which screen is right for your circumstances.
Genetic testing on the potential parents is carried out on a blood or saliva sample and can provide information about the potential likelihood a child born may inherit one or none of the conditions screened for. Genetic screening is an optional test. It may be recommended in cases of known medical history or if there are specific concerns regarding fertility. Genetic screening requires an out-of-pocket cost and there may be genetic counselling involved as well. If you are considering pre pregnancy genetic screening please speak with your fertility specialist for more in depth information.
Another option for genetic screening is the Pre-Implantation Genetic Screening (PGS) testing that is offered across most fertility clinics. This testing is done on embryos on day 5 of the embryo growth cycle. A small portion of cells are removed from the embryo by a trained fertility scientist and sent for testing at a specialised laboratory. The embryos are then frozen and stored until a result is received. These screens are testing for chromosomal abnormalities within the embryo. Within Australia it is used to investigate ongoing fertility issues and to assist couples with known inherited conditions. This test is not used for gender selection unless there is a medical condition known to be associated with a sex chromosome.
Once the fertility specialist receives the results of the PGS testing they will be in touch with the patient to discuss these results and their options for embryo transfer and genetic counselling.