PGT-M & PGT-SR: Targeting Specific Conditionst

Beyond screening for general chromosomal health with PGT-A, Preimplantation Genetic Testing also offers specialized options for families at risk of passing on specific genetic conditions: PGT-M and PGT-SR.

PGT-M: Preimplantation Genetic Testing for Monogenic Disorders

PGT-M is designed for individuals or couples who are known carriers of a single gene disorder, meaning they carry a gene mutation that could cause a specific genetic disease in their offspring. Examples include cystic fibrosis, sickle cell anemia, Huntington's disease, and spinal muscular atrophy. Before undergoing IVF, the genetic mutation specific to the family is identified and a custom test is developed. During PGT-M, the biopsied embryo cells are analyzed for this particular mutation. This allows for the selection of embryos that are unaffected by the genetic disorder, preventing its inheritance by the child. PGT-M offers a profound opportunity for families to avoid the emotional and medical challenges associated with these inherited conditions.

PGT-SR: Preimplantation Genetic Testing for Structural Rearrangements\

PGT-SR is recommended for individuals who carry a structural chromosomal rearrangement, such as a translocation or inversion. While these individuals may be healthy themselves, these rearrangements can lead to an unbalanced set of chromosomes in their embryos, resulting in recurrent miscarriages, implantation failure, or the birth of a child with severe health problems. PGT-SR analyzes the embryo's chromosomes to identify those with a balanced and normal chromosomal complement, significantly improving the chances of a successful pregnancy and a healthy baby for carriers of such rearrangements.

The choice between PGT-A, PGT-M, and PGT-SR depends entirely on the specific genetic risks identified for the prospective parents. Each type of PGT offers a tailored approach to genetic screening, empowering families with information to make informed decisions on their path to parenthood.