Pre-implantation is the genetic testing that is done to evaluate the embryo before the embryo is transferred to the uterus. This technique is used in in-vitro fertilization. This genetic diagnosis can test for over 400 different single-gene disorders like cystic fibrosis, sickle cell anemia, Tay-Sachs, and Huntington’s disease. These tests can be used for disorders that would be fatal to the fetus as well as illnesses that may not show symptoms until the child is older.
Three types of tests can be performed on the embryos during IVF:
Preimplantation genetic screening for abnormal chromosome number (PGT-A)- this screening is done to analyze the embryo cells to check for an unequal number of chromosomes. If the embryo is missing a chromosome or has an extra chromosome it is known as aneuploidy. Aneuploidy is one of the main reasons for failed implantation.
Preimplantation genetic testing for monogenic diseases (PGT-M)- this test analyzes the specific gene mutation that one or both parents might carry. This happens when there is a family history of a genetic disorder. These examine common disorders like sickle cell anemia, muscular dystrophy, cystic fibrosis, fragile-X syndrome, etc.
Preimplantation genetic testing structural rearrangement (PGT-SR)- this test analyzes the embryo to look for chromosomal structure rearrangements like inversion or translocation. This examines disorders including Robertsonian translocation, reciprocal translocations, and nonreciprocal translocation.
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