PGT-M

Pre-implantation Genetic Testing for Monogenic Conditions (PGT-M) is a highly specialized genetic screening tool that allows us to test embryos for known single-gene conditions before transfer. This technology is essential for individuals or couples who are at risk of passing on a specific inherited genetic condition. By identifying the genetic makeup of embryos, PGT-M helps reduce the risk of passing on hereditary diseases, offering the possibility of a healthier pregnancy and baby.

Who Can Benefit from PGT-M Testing?

PGT-M is designed for individuals or couples who know they are at risk of passing on specific genetic conditions. It can be particularly useful if:

• Both partners are carriers of the same autosomal recessive condition (e.g., Cystic Fibrosis, Sickle Cell Disease, Beta Thalassemia).
• You are a carrier of an X-linked condition (e.g., Duchenne Muscular Dystrophy).
• You or your partner have an autosomal dominant condition (e.g., Huntington’s Disease, Marfan Syndrome, Myotonic Dystrophy).
• You or your partner carry mutations related to hereditary cancer syndromes (e.g., BRCA1 & BRCA2, Lynch Syndrome).
• You have previously had a child or pregnancy diagnosed with a single-gene disorder.

PGT-M is tailored to each family, and the test is developed for the specific genetic mutation identified within the family. Even if you are the first person in your family to be diagnosed with a genetic condition, it is often possible to develop a unique PGT-M test for you.

The PGT-M Process

1. Case Review: Prospective parents consult with a genetic counselor to assess if additional genetic testing of the couple or family members is needed.
2. PGT-M Test Preparation:The PGT-M lab will design a unique test based on your specific genetic condition.
3. IVF Treatment: IVF treatment is performed, where eggs are collected, fertilized, and embryos are incubated for testing.
4. Embryo Biopsy: Our skilled embryologists carefully remove a small sample of cells from each embryo at the blastocyst stage (5-6 days of development).
5. Embryo Freezing & Testing: The embryos are frozen while the genetic testing is conducted. The samples are sent to the laboratory, where testing occurs, and the results are provided to our genetics team.
6. Embryo Transfer: Embryos that are free of the genetic condition are selected for transfer. Remaining embryos can be frozen for future use.

What Conditions Can PGT-M Test For?

PGT-M can now be performed for almost any single-gene disorder with an identified mutation, as long as the appropriate family members are available for test preparation. The list of conditions we can test has steadily expanded, and it includes:

• Cystic Fibrosis
• Beta Thalassemia
• Duchenne Muscular Dystrophy
• Huntington’s Disease
• Marfan Syndrome etc.,

If you’re concerned about specific genetic conditions, our team is here to provide expert guidance and support throughout the entire process. If your specific condition is not listed, IVF Vision will work with you to determine if a test can be done for your case.Let us know if you would like more information or to schedule a consultation.