Preimplantation Genetic Testing-Monogenic

Preimplantation genetic testing (PGT) for monogenic diseases is an advanced reproductive technology that is used to assess embryos for a single gene disorder. It is an important tool for couples who are at risk for passing on a genetic disorder to their child. The process involves in vitro fertilization (IVF) to create embryos, which are then tested for the gene associated with the disorder. If the embryos do not contain the gene, they can be selected for implantation. PGT-monogenic is particularly valuable for couples who are at risk of passing on a single gene disorder, such as cystic fibrosis, Huntington's disease, or Duchenne muscular dystrophy. This test can be used to detect the presence of a mutation in an embryo, which can then be selected for implantation. This ensures that the couple will not pass on the mutation to their child. The process of PGT-monogenic involves collecting cells from an embryo, usually at the eight-cell stage of development. A sample of the cells is then analyzed for the gene mutation associated with the disease. The results of the test can be used to identify which embryos are free of the mutation and can be selected for implantation. PGT-monogenic is a valuable tool for couples who are at risk for passing on a genetic disorder to their child. It is important to note that this test does not guarantee the absence of the mutation in the embryo, and other genetic disorders can still be passed on. Therefore, it is important to consult with a genetic counselor to determine if this procedure is appropriate for a particular situation.