Pre-implantation Genetic Testing for Monogenic Disorders (PGT-M) is a technique used to identify genetic abnormalities in embryos created through in vitro fertilization (IVF). It’s specifically designed for couples at risk of passing on specific single gene disorders to their children.

PGT-M can in theory be used to detect all combinations of monogenic disorders for which the disease-causing loci have been identified. These loci are nuclear (X-linked, autosomal, dominantly or recessively inherited) or mitochondrial (maternally inherited) and involve (likely) pathogenic genetic variant(s). In addition to thalassemia, PGT-M can be used to screen for a variety of other genetic diseases such as Cystic Fibrosis, Huntington’s Disease, Sickle Cell Anemia, Muscular Dystrophy, Tay-Sachs Disease, Fragile X Syndrome, and BRCA1 and BRCA2 Mutations

PGT-M can be customized to screen for various other single gene disorders, provided that the specific genetic mutation is identified and can be tested reliably in the embryos.