Understanding PGT-M

Key Takeaways

• Preimplantation Genetic Testing for Monogenic Disorders (PGT-M) is a significant advancement in assisted reproductive technology that helps families and individuals at risk of passing on genetic conditions.
• During IVF, PGT-M identifies with a high degree of certainty embryos free from specific inherited conditions.
• Ideal candidates include individuals with a known genetic disorder or a family history of inherited diseases.

Understanding PGT-M: A Path to Healthier Families

Advances in reproductive medicine have enabled families to make informed decisions about their future children’s health. One of the most groundbreaking technologies available today is Preimplantation Genetic Testing for Monogenic Disorders, or PGT-M. This testing can offer couples at risk of passing on inherited conditions the peace of mind that their future child will not likely be affected by certain serious diseases.

What is PGT-M?

PGT-M is a highly specialized genetic test performed during in vitro fertilization (IVF). It allows embryologists to screen embryos for specific genetic mutations before they are implanted in the uterus. By identifying and selecting embryos that do not carry the genetic mutation, families can dramatically reduce the likelihood of their child being affected by a genetic disorder.

This test is particularly effective for monogenic (single-gene) disorders, such as cystic fibrosis, Huntington’s disease, sickle cell anemia, and many others. Families with a known history of these conditions can take proactive steps to ensure their child will not be likely to inherit the disease.

PGT-M is only possible when there is a specific mutation that is already documented in the genetic parents. PGT-M is not a modality that can search for “birth defects” or other problems unless a specific problem has already been identified in the parents. Therefore, in couples without a known genetic abnormality, PGT-M is not possible.

Who Needs PGT-M?

Not every couple undergoing fertility treatment will require PGT-M, as mentioned above. It is primarily recommended for individuals or couples who:

• Are carriers of a known genetic mutation that causes a monogenic disorder.

• Have a family history of a genetic disease and want to avoid passing it on to their children.

• Have had a previous pregnancy or child affected by a genetic condition.

• Have had recurrent miscarriages, which can sometimes be linked to genetic abnormalities.

How Does PGT-M Work?

The process of PGT-M starts with identifying a specific mutation in the genetic parents. Once this has been documented, a genetic laboratory will build a specific genetic probe for the couple, which can take months to complete. When the probe has been built, the couple may proceed with IVF, where eggs are retrieved from the ovaries and fertilized with sperm in the lab to create embryos. Once the embryos reach a certain stage of development, usually around five to six days (blastocyst stage), a few cells are gently taken from each embryo for biopsy. These cells are then analyzed in a specialized laboratory to determine whether the embryo carries the genetic mutation in question.

Only embryos that are diagnosed as likely free from the mutation are selected for transfer, increasing the chance of a successful pregnancy and reducing the risk of passing on a genetic disorder. The remaining normal embryos can be frozen for future use or discarded, depending on the preferences of the family.

The Impact of PGT-M

PGT-M has become a game-changer for families with a high risk of genetic diseases. According to a study published in the peer-reviewed journal Genes , PGT and assisted reproduction have made huge advancements, making it relatively safe and accurate – and technology continues to improve. However, new genetic findings have created fresh challenges for genetic counseling and embryo transfer policies.Preimplantation genetic testing in general has an error rate of approximately 5-10%. This means that the test could say an embryo is disease free when it is not, or vice versa. So, PGT-M should be thought of as a way to reduce, but not absolutely eliminate, the chances of passing on a genetic problem.

Research in Human Reproduction also highlights the psychological aspects of PGT-M. Deciding whether to use PGT-M can be stressful for patients. Communication is key to ensure patients understand their options and that their choices are well-informed and supported.

Is PGT-M Right for You?

If you have a family history of genetic disease or are a carrier of a genetic mutation, PGT-M may be an important option to consider. Consulting with a fertility expert is the first step in exploring whether this advanced testing can help you have a healthy baby. Your doctor will work with you to assess your medical and genetic history and help you understand the potential outcomes.

At Virginia Fertility & IVF , we are committed to helping families make the best decisions for their future. If you are concerned about passing on a genetic disorder, or if you want to learn more about how PGT-M can help you have a healthy pregnancy, contact our office today to schedule a consultation with one of our fertility experts.

PGT-M is not appropriate for every individual or couple undergoing IVF. The decision to pursue PGT-M should be made in consultation with a fertility specialist and genetic counselor, based on your unique medical and family history. The information provided in this article is for educational purposes only and is not a substitute for professional medical advice.