PGT-M Testing

PGT-M: Preimplantation Genetic Testing for Monogenic or Single-Gene Defects

For people who have a genetic disease in their families, the decision to have a baby can come with added concerns about the health of a future child. PGT-M (preimplantation genetic testing for monogenic or single-gene defects) can be performed prior to pregnancy to greatly reduce the risk of having an affected child.

PGT-M is a genetic test performed on embryos produced through IVF, with the goal of identifying and transferring an embryo free of the condition. PGT-M is sometimes referred to as PGD, or preimplantation genetic diagnosis. Rather than counting chromosomes in cells taken from embryos, as is done with PGT-A, PGT-M examines specific genes, searching for a specific genetic defect that is known to run in your family or for which you are known to be a carrier.

For example, if carrier screening has determined that you are a carrier of cystic fibrosis, muscular dystrophy or sickle cell anemia – or any of hundreds of other genetic disorders – PGT-M can find out which of your embryos are unaffected, so that only those can be chosen for transfer.

Who benefits from PGT-M?

PGT-M is appropriate for those who know they are at increased risk of having a child with a specific genetic condition. You might consider PGT-M through our IVF genetic testing labs if you and/or your partner are carriers of, or are affected with, a single-gene disorder or hereditary cancer syndrome, such as:

  • Cystic fibrosis
  • Fragile X syndrome
  • Huntington’s disease
  • Breast or ovarian cancer (BRCA1 and 2)

How does the Ovation PGT-M process work?

Ovation provides access to state-of-the-art PGT-M genetic services that give hopeful parents the best chance of a successful pregnancy. PGT-M can test for almost any single-gene condition with an identified mutation, when the appropriate family members are available for genetic testing to help with the test-development process.

  • Case review – Intended parents meet with a board certified genetic counselor to review the case and discuss the testing process.
  • PGT-M test preparation – A custom PGT-M test is designed for your family.
  • IVF and embryo biopsy – Embryos are created through IVF. After a few days of growth in the IVF lab, a few cells are removed from the outer layer of the embryo, or trophectoderm, which forms the placenta. These samples are stabilized and transported from Ovation to a specialized genetics laboratory for testing, while your embryos remain safe at your clinic.
  • PGT-M – Geneticists use cutting-edge technology to prepare and test each sample for the condition in question. Through Ovation, PGT-M is performed with karyomapping technology, which looks at the genetic fingerprint of your embryo samples to give you results that are more than 95% accurate. If you choose, your samples can also be used for preimplantation genetic testing for aneuploidies (PGT-A), which can identify chromosome abnormalities in embryos that may increase miscarriage risk or result in conditions such as Down syndrome.
  • Results and transfer – Results are sent to your fertility specialist, and genetic counselors are available to review the findings with you in detail. If available, an embryo without the condition in question can be selected for transfer or frozen for later use.

Ask your fertility specialist about PGT-M

To learn more about Ovation PGT-M or to locate a fertility specialist in your area who offers Ovation genetic testing, please contact us. One of our client case specialists will be glad to help.