PGT-M, formerly known as PGD, is preimplantation genetic testing for monogenic/single-gene diseases. If the couple or their relatives have a single gene disease or a disorder caused by a mutation in a single gene, there is a risk that the child will have that genetic defect. Although PGT-M is not necessary for all patients, it is extremely important for those who may be carriers of a genetic disease. The benefit of PGT-M is that it prevents the risk of passing the single gene disease in the family to the child by choosing healthy embryos. It also significantly reduces miscarriages and IVF failures.
PGT-M can identify many genetic disorders, including:
- Cystic Fibrosis
- Fragile-X syndrome
- Spinal Muscular Atrophy
- Huntington’s disease
- Becker’s muscular dystrophy
- Beta thalassemia
- Charcot-Marie-Tooth disease 1A
- Muscular dystrophy
- Familiar amyloid polyneuropathy
- Hemophilia A (F8)
- Hemophilia B (F9)
- Multiple endocrine neoplasia, type 2A
- Myotonic dystrophy (Steinert’s disease)
- RhD incompatibility
- Spinal muscular atrophy
PGT-M is performed with a biopsy sample taken from the embryo on the 3rd or 5th day of embryo development. The test results in a couple of weeks. During this time, the embryos are frozen and stored in the laboratory. According to the test result, the healthy embryo is transferred to the uterus.
