Preimplantation Genetic Testing: Available and Emerging Technologies

Since the first successful in vitro fertilization (IVF) cycle, there have been tremendous advancements in the technologies surrounding IVF. Specific genetic disorders such as parental chromosomal translocations or inversions and single gene mutations such as cystic fibrosis or fragile X, as well as abnormalities in the number of chromosomes, or aneuploidy, are major barriers to achieving a healthy live born infant. Preimplantation genetic diagnosis (PGD) for specific chromosomal or genetic disorders and preimplantation genetic screening (PGS) for determination of the number of chromosomes, are techniques that have been developed to prevent the uterine transfer of genetically abnormal embryos during IVF cycles. The purpose of preimplantation genetic testing (PGT), that is PGD or PGS, is to improve the likelihood of giving birth to a healthy baby.