Preimplantation genetic diagnosis

Preimplantation genetic diagnosis (PGD) is currently one of the various options for a responsible approach to family planning for couples who have a high risk of transmitting a monogenic inherited disorder or structural chromosomal aberration to their prospective offspring. A prerequisite for PGD is fertilization of ova by in vitro fertilization (IVF). Pregnancy rates in PGD cycles approximate to those obtained by assisted reproductive technology (ART) with intracytoplasmic sperm injection (ICSI) for subfertile couples without genetic testing. Interested couples should be informed early and in detail about the laborious technical procedure and the limited success rates in order to allow informed decision-making and consideration of alternative options during family planning. In this article the currently available international data on PGD are presented including the different medical indications for PGD and the evaluation of novel genomic technologies. The current legal situation in Germany is discussed in more detail including the German PGD Act introduced in 2011 (Praimplantationsdiagnostikgesetz: PraimpG) and its statutory order which came into force in 2012. Finally, the current status of the implementation of PGD in Germany is described and a national coordination and networking of PGD centers is encouraged in order to be able to provide a quality assured PGD in Germany as soon as possible with optimal use of available resources and experience for a broad spectrum of rare genetic disorders.