Pre-implantation genetic testing (PGT) is a technique for testing to provide information about the genetic make-up of the rest of the cells in the embryo. Couples must undergo in vitro fertilization (IVF), where the eggs (oocytes) are removed from a woman’s body and mixed with sperm in a laboratory.
The embryos which are created can be tested on Day #3 after egg harvest and then they are implanted back into the uterus on Day #5. Alternatively, the embryos can be frozen after the cells are removed for testing and implanted in a subsequent menstrual cycle.
Patients with many inherited familial diseases can have their embryos tested to determine its genetic make-up. Specifically, this would include patients with a history of single-gene disorders (such as thalassemia, cystic fibrosis or sickle cell anaemia) and patients with a history of sex-linked disorders (such as Duchenne muscular dystrophy and Fragil-X-syndrome).
Patients may also decide to use genetic screening. For some patients with, advanced reproductive age, recurrent pregnancy loss, severe male factor infertility or recurrent IVF treatment failures, genetic screening may be used.