Preimplantation genetic diagnosis: current and future perspectives

Over the last 30 years prenatal diagnosis has been available to couples at genetic risk to determine the genetic health of a naturally conceived pregnancy. Prenatal diagnosis involves fetal cell sampling either by chorionic villous sampling at 10-12 weeks or by amniocentesis at 12-15 weeks gestation and testing for genetic disease. If the fetus is affected, termination of pregnancy is a difficult and emotional issue for the couple. The advent of assisted reproductive technologies (ARTs) and more recently preimplantation genetic diagnosis (PGD) now provides an alternative reproductive option that allows couples to commence a pregnancy knowing that their baby will not be affected with the indicated genetic condition. This article explores the option of PGD, its clinical application now and into the future and the current status of regulation and legislation. With recent changes to national legislation, scientists now have the opportunity to access affected PGD embryos donated by patients to establish disease-specific stem cells that may be useful models of human disease and a means to develop more effective therapies for treatment.