The use of preimplantation genetic diagnosis (PGD) is steadily increasing. According to the latest reports of the ESHRE PGD Consortium, there is a constant increase in the number of cycles and centers performing PGD worldwide. The main indications for PGD are represented by a high genetic risk due to single gene disorders and structural chromosomal abnormalities; testing for aneuploidy in infertile patients at risk of generating high proportions of aneuploid embryos, aimed at increasing the efficiency of assisted conception cycles. There seems to be a general consensus among professionals that the use of PGD is acceptable for medical indications if a high risk of a serious genetic disorder exists. However, new uses of PGD have been reported in the past year for screening embryos for susceptibility to cancer, for late-onset diseases and for HLA-matching for existing children. In addition, the demands to use PGD for fully nonmedical purposes are increasing (i.e., sex selection of embryos solely for social or cultural reasons). These extensions have raised questions about their ethical acceptability and the adequacy of regulatory structures to review new uses. In this context, genetic counselling plays an important role in informing patients on the benefits, risks and limitations of PGD in these cases. This will assist patients in taking their final decision on their therapeutic itinerary.