Genetic counseling and the infertile patient

During the last half of the twentieth century, there were a series of stunning advancements in reproductive medicine and genetics that, ultimately, led to the two fields of medicine becoming inextricably intertwined. Some of these medical milestones include the discovery of DNA in 1953 by Watson and Crick in Great Britain, the birth of the first baby conceived via in vitro fertilization (IVF) in 1978 in Great Britain, the birth of the first baby following preimplantation genetic diagnosis (PGD) in 1989 in Great Britain, and the completion of the mapping of the full human genome sequence in 2003 in the United States. These achievements have enabled both reproductive and genetic medicine to improve patient health and well-being while facilitating reproduction for individuals or couples previously incapable of having a genetically-shared and/or healthy, unaffected offspring. In short, the range of applications of genetics in infertility is extensive, varied, and consistently expanding contributing to the emergence of a new medical specialty: reproductive genetic medicine. While this new field increasingly enables would-be parents to have the hoped for ‘perfect’ baby – a baby with maximum health and minimum defects – the would-be parents all too often have unrealistic or misguided expectations of feasibility, success, and applicability of any given technology or potential treatment.