Genetic Counselling & Testing

Genetic carrier screening is a genetic test, using a blood or saliva sample, that assesses your chance of having a child with one of hundreds of rare genetic conditions that could impact a child’s health and development. Knowing about an increased chance of a genetic condition can allow you to prepare or to take steps before or during a future pregnancy to reduce the chances of that condition in your child.

At Twig, we offer genetic carrier screening to everyone, with complimentary pre-test counselling to help you make an informed decision that is right for you. After completing genetic carrier screening, our genetic counsellor will walk you through your results in detail and ensure you understand what they mean for you and for your family building plan.

What is preimplantation genetic testing (PGT)?

PGT is a genetic screening test that can be performed on embryos created via in vitro fertilization (IVF) before they are transferred into the uterus for pregnancy. This allows you to prioritize embryos for transfer that are more likely to lead to an ongoing pregnancy, and/or less likely to have a specific genetic condition or concern.

How does PGT work?

During the IVF process, a small number of cells are removed from embryos that reach a certain stage of development. The DNA from those cells is sent to an outside genomics laboratory for analysis, while the embryos themselves are kept frozen safely on-site at Twig.

Preimplantation Genetic Testing for Aneuploidy (PGT-A), is the most common form of PGT. PGT-A is a screening test for the number of chromosomes an embryo has, which impacts its ability to implant and lead to an ongoing pregnancy. Embryos with the typical number of chromosomes (euploid embryos) are much more likely to implant and less likely to lead to a pregnancy loss.

At Twig, anyone planning IVF has the option to include PGT-A as part of their treatment plan. It is important to discuss the option of PGT-A with your physician and genetic counsellor to understand how it may fit into your care plan, and to make an informed decision that is right for you. Your genetic counsellor will also review your PGT-A results with you in detail and help you understand what they mean for your next steps.

Preimplantation Genetic Testing for Monogenic disorders (PGT-M) is a specific type of PGT used to test embryos at high risk for a specific inherited condition. PGT-M is offered only if the egg and/or sperm providers are known to be affected by, or carriers of, a genetic condition that could be passed onto future generations. Your genetic counsellor and physician can help you understand and make decisions about PGT-M if it applies to you.

Preimplantation Genetic Testing for Structural Rearrangements (PGT-SR) is a specific type of PGT used only when either the egg or sperm provider has a known chromosomal rearrangement themselves. Your genetic counsellor and physician will talk to you in detail about the option of PGT-SR if it applies to you.

Prenatal genetic screening uses bloodwork and/or ultrasound to tell you about the chance that your pregnancy will be affected by a chromosome difference that can cause a syndrome in your baby. The testing poses no risk to your pregnancy. The choice whether to have prenatal genetic screening is personal and our complimentary pre-test counselling will help you make an informed decision that is right for you. Twig can facilitate the prenatal genetic screening test of your choice, including eFTS or NIPT, followed by an in depth review of your results with our genetic counsellor.