A genetic test designed to lower the risk of having a child with an inherited condition
What is PGT-M?
PGT-M is a test for people who know they are at increased risk of passing on a specific genetic condition or having a child with a specific genetic disorder. It is to be performed prior to pregnancy to greatly reduce the risk of having an affected child.
PGT-M was previously known as PGD, Pre-implantation Genetic Diagnosis. PGT-M for single gene disorders involves testing embryos created through in vitro fertilization (IVF) and then transferring unaffected embryos.
How it works?
PGT-M is a diagnostic test for detecting single-gene disorders in patients with a high risk of passing genetic abnormality to their children. This test helps to lower the risk of having genetic diseases in children.
PGT-M tests is created uniquely for each family. PGT-M can be performed for almost any single gene disorder as long as the specific familial mutation has been identified and appropriate family members are available for test preparation.
Who is PGT-M for?
PGT-M is suitable for people who are at high-risk of passing on a specific single gene disorder. You may consider PGT-M if:
You and your partner are carriers of the same autosomal recessive condition (e.g. Sickle Cell Anemia, Cystic Fibrosis, Gaucher Disease)
- You have had a child or pregnancy with a single gene disorder.
- You or your partner have an autosomal dominant condition (e.g. Huntington disease)
- You or your partner have a mutation associated with a hereditary cancer syndrome (e.g. BRCA1 & 2)
- You are a carrier of an X-linked condition (e.g. Duchenne Muscular Dystrophy)
Why use PGT M?
Patients who are undergoing an assisted reproduction treatment (ART) and have a personal or familial high-risk for single gene conditions are encouraged to have a PGT M test. This risk may be identified due to:
- A family history of these conditions
- A previous affected child
- A positive carrier screening result
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