Pre-implantation genetic testing (PGT) takes one or more cells from an egg or an embryo (fertilized egg) and performs special tests to learn more about the genetic make-up of the rest of the cells in that embryo.
PGT requires that couples undergo in vitro fertilization (IVF), where the eggs (oocytes) are removed from a woman’s body and mixed with her partner’s sperm in a laboratory. The embryos that are created can be tested on the third day after the eggs have been harvested and then implanted back into the uterus on the fifth day. Alternatively, the embryos can also be frozen after the cells are removed for testing and implanted during a subsequent cycle.
Patients with inherited familial diseases may wish to have their embryos tested to determine the genetic make-up. Specifically, this would include patients with a history of single-gene
disorders, such as cystic fibrosis or sickle cell anemia, and patients with a history of sex-linked disorders, such as Duchenne muscular dystrophy and Fragile X syndrome.
If you are wondering whether you should undergo genetic testing, talk to your doctor about whether pre-implantation genetic testing would be beneficial for you.