Pre-implantation genetic diagnosis

In recent years, it has become possible to test embryos before their transfer into the uterus, with the technique of pre-implantation diagnosis. This is now feasible thanks to the knowledge we have acquired at the molecular level about the mechanisms that produce genetic diseases. The ability for extended embryo culture in the laboratory and the development of the technique of embryo biopsy have been instrumental in the development of the above techniques.

Pre-implantation genetic testing (PGT) aim to eliminate the risk for couples who have an increased chance of transmitting hereditary diseases to their offspring, as well as to avoid the significant psychological burden from an induced termination of pregnancy, when a serious issue is diagnosed with the traditional prenatal screening method (during the pregnancy). Additionally, pre-implantation genetic testing helps eliminate multiple unsuccessful IVF efforts and repeated miscarriages.