Genetic testing and screening

Genetic testing and screening can be used to identify potential genetic issues that may impact the chances of a successful pregnancy and the health of the future child. It is often recommended for individuals or couples who have experienced recurrent miscarriage or pregnancy loss, multiple failed IVF transfers, or for those with a known family history of genetic risks. It may also be considered by those who are using donor ova (egg), sperm, or embryo.

It’s important to note that genetic testing and screening is not recommended for everyone and should only be performed under the guidance of a healthcare provider who is knowledgeable about fertility treatments. The most appropriate type of testing will depend on the individual’s specific circumstances and the underlying cause of infertility. Speak to your fertility specialist to determine if genetic screening is appropriate for you.

Testing and screening process

If genetic testing and screening is deemed necessary and appropriate, a small sample of cells is taken from each embryo. The cells removed will have no negative impact on the future development or health of the embryo. The biopsy samples are sent to a special laboratory for genetic testing. The type of genetic testing performed will depend on the individual’s specific circumstances and the underlying cause of infertility. Common types of genetic testing performed on embryos include pre-implantation genetic testing (PGT) and chromosomal analysis.

Results and decision making

Once the genetic testing results are available, your fertility doctor and/or genetic counsellor will review the results with you and help you determine the best course of action. Depending on the results, you may choose to implant the embryos that are free of genetic abnormalities or to consider alternative options.

In Canada, the practice of gender selection for non-medical reasons is illegal due to its potential to reinforce gender stereotypes and contribute to gender-based discrimination, and it has taken steps to prevent such practices through legislation and enforcement.

Genetic testing and screening during fertility treatment

Many fertility clinics offer you the ability to have your embryos tested and screened

• Carrier screening: Preconception carrier screening is used to determine if individuals carry genetic mutations that could be passed on to their offspring. This type of testing can help identify potential genetic disorders and allow individuals to make informed decisions about their fertility and family planning.
• Chromosomal analysis: Chromosomal analysis is used to determine if there are any abnormalities in the chromosomes of an embryo or sperm. Chromosomal abnormalities can impact the chances of a successful pregnancy and the health of the future child.
• Pre-implantation genetic testing (PGT): PGT is a type of genetic testing performed on embryos before they are implanted in the uterus. This test can help identify genetic abnormalities that could impact the chances of a successful pregnancy or the health of the future child.

Genetic counseling

Genetic counseling is an important part of the fertility treatment process for many patients, as it provides them with the information and support they need to make informed decisions about their health and future family planning.

Patients receive information and support to help them understand the genetic risks associated with their fertility treatment options. The goal of genetic counseling is to provide patients with the information and support they need to make informed decisions about their health and future family planning. Here is an overview of what genetic counseling during fertility treatment entails:

• Assessment of genetic risks: During genetic counseling, a trained genetic counselor will assess your personal and family medical history to determine if there are any genetic risks that need to be considered during fertility treatment.
• Discussion of testing options: The genetic counselor will explain the various types of genetic testing that may be performed during fertility treatment, such as pre-implantation genetic testing (PGT), chromosomal analysis, and carrier screening.
• Review of test results: If you choose to undergo genetic testing, the genetic counselor will review the results with you and help you understand what the results mean.
• Discussion of treatment options: Based on the results of genetic testing, the genetic counselor will help you understand your treatment options, including the benefits and risks of each option, and will help you make an informed decision about your fertility treatment.
• Emotional support: Genetic counseling can be a emotionally challenging experience. The genetic counselor will provide emotional support and help you and your partner cope with the stress and uncertainty associated with infertility and genetic testing.