Preimplantation genetic diagnosis: technology and clinical applications

Preimplantation genetic diagnosis (PGD) is a method by which embryos formed through in vitro fertilization (IVF) can be tested for single-gene disorders or chromosome abnormalities prior to embryo transfer. This enables couples to significantly improve their chances of having a healthy child. PGD is an important addition to conventional prenatal diagnosis for genetic disorders. PGD is a complex combination of various technologies that requires close collaboration of a team of specialists for optimal patient care. This review article will cover patient management, assisted reproductive technologies including IVF and PGD as well as indications for PGD. Clinical vignettes from The Froedtert Hospital and Medical College of Wisconsin Reproductive Medicine Clinic PGD Program will be presented, including the first single-gene disorder PGD performed in Wisconsin. These vignettes highlight the importance of a detailed family history, use of PGD for cases of recurrent miscarriage, and the use of PGD for spinal muscular atrophy.