Preimplantation Genetic Testing for Monogenic/Single Gene Defects

Preimplantation genetic testing for monogenic/single gene defects (PGT-M), is a genetic screening carried out on embryos in coordination with an in vitro fertilization (IVF) cycle, where one or both the biological parents have an inherited monogenic or single-gene disorder like Tay-Sachs disease, cystic fibrosis or many other conditions.

This screening of the embryos helps identify healthy embryos and reduce the risk of having a child with the same inherited genetic disorder. Monogenic disorders are genetic disorders caused by the mutation (alteration) of a single gene; hence, they are also known as single-gene defects.

PGT-M was previously known as preimplantation genetic diagnosis (PGD)