Preimplantation genetic diagnosis: twenty years of practice

Summary More than two decades after the first clinical application, preimplantation genetic diagnosis (PGD) is an established medical procedure and an accepted alternative to conventional prenatal diagnosis for patients at high risk of transmitting a genetic disorder to their offspring. The great advantage of PGD is that the diagnostic procedure is made already at the embryo stage, before transfer to the patient, and the need for pregnancy termination is thereby avoided. However, PGD can only be performed in connection with in-vitro fertilisation followed by embryo biopsy and genetic analysis of single cells, a complex and cumbersome procedure for both the couple as well as the professionals involved in the treatment. However, for couples at high risk of having an affected child, PGD may be the most attractive alternative to conceive unaffected children.