PGT- M

Preimplantation Genetic Testing for Monogenic disorders (PGT-M) is a specialized genetic testing procedure used to detect specific genetic disorders caused by mutations in a single gene. PGT-M is used to identify embryos that carry a specific genetic disorder before they are implanted into the uterus,  increasing the chances of having a healthy child.

During PGT-M, a small number of cells are removed from an embryo created through in-vitro fertilization (IVF) and analyzed for specific genetic mutations associated with a particular disorder. This can be done by using techniques such as PCR, Sanger sequencing, or Next generation sequencing (NGS).

PGT-M can be used to test for a wide range of monogenic disorders, such as cystic fibrosis, sickle cell anemia, Tay-Sachs disease, and many others. It’s important to note that PGT-M is not a diagnostic test and is not always able to detect all genetic mutations. Therefore it is important to seek genetic counseling before making any decision about undergoing PGT-M.

– PGT-M is Recommended for: 

1. Couples who have a family history of a specific genetic disorder: PGT-M can be used to identify embryos that do not carry the genetic mutation associated with the disorder and increase the chances of having a healthy child.
2. Couples who are carriers of a specific genetic disorder: PGT-M can be used to identify embryos that carry the genetic mutation associated with the disorder and allow couples to make informed decisions about family planning.
3. Couples who have previously had a child with a specific genetic disorder: PGT-M can be used to identify embryos that do not carry the genetic mutation associated with the disorder and increase the chances of having a healthy child in the future.
4. Couples with recurrent miscarriage: PGT-M can be used to identify embryos that carry genetic mutations associated with recurrent miscarriage, and increase the chances of a successful pregnancy.
5. Couples with advanced reproductive age: As women age, the risk of having a child with genetic disorders increases. PGT-M can be used to identify embryos that do not carry genetic mutations associated with these disorders, and increase the chances of a successful pregnancy.

– How is the PGT-M performed?

Preimplantation genetic diagnosis begins with the normal process of in vitro fertilization that includes egg retrieval and fertilization in a laboratory. Over the next three days the embryo will divide into eight cells.

Preimplantation genetic diagnosis involves the following steps:

1. First, one or two cells are removed from the embryo.
2. The cells are then evaluated to determine if the inheritance of a problematic gene is present in the embryo.
3. Once the PGT-M procedure has been performed and embryos free of genetic problems have been identified, the embryo will be placed back in the uterus, and implantation will be attempted.
4. Any additional embryos that are free of genetic problems may be frozen for later use while embryos with the problematic gene are destroyed.