Präimplantationsdiagnostik: Indikation und erste Erfahrungen

Serious and incurable genetic disorders inflict a heavy burden on the affected couples. In the presence of genetic predisposition for severe diseases, the affected couple should consider whether they wish to pursue a pregnancy with the risk of having a child (possibly once again) with serious genetic defects or whether they acknowledge the child's disorder and terminate the"trial pregnancy." After many years of discussions, some of which were controversial, a decision has now finally been reached in the German Federal Parliament: preimplantation genetic diagnosis (PGD) of embryos will be permitted when strict requirements are fulfilled. The German Federal Parliament voted on this topic on 7 July 2011 after a lengthy debate; 326 members voted in favor of authorizing limited PGD and 260 were opposed. PGD represents an alternative to prenatal diagnosis for couples with genetic predisposition for disorders. After the decree issued by the Federal Court of Justice on the legality of PGD, when adhering to strict indications, the University Hospital for Gynecology in Lübeck began to perform the procedure. A pregnancy was achieved after PGD in the case of predisposition for Desbuquois syndrome, a skeletal anomaly inherited in a monogenic manner in which the heart and lung cannot develop and which usually involves intrauterine or early postnatal death.