It is intended for couples where there is evidence of a serious risk of passing a genetic disease. The gene mutation is carried from parent to offspring. In these rare genetic diseases, we can distinguish three types of inheritance: recessive inheritance, dominant, and related to sex chromosome. For individual groups, there is a different risk of disease transmission to offspring as well as different requirements for selecting an embryo suitable for transfer. For couples with this disease, the procedure is always individual given the specific genetic problem. Progress has been made in the direct diagnosis of mutations, and nowadays we are able to select healthy embryos of both sexes after the PGD. The use of PGD to select an embryo of a particular sex is not legally possible.
Preimplantation genetic screening is recommended in the case of a monogenic disease in the family.
After obtaining the embryos with IVF – ICSI on the 3rd day of embryo development, a small laser incision is performed on the embryo shell. The growing blastocyst is extruded through this hole and 5-10 cells are removed from it. The embryos are frozen and samples with the cells taken and are sent to the genetic laboratory for testing. The examination is done in the genetic laboratory, which is very accurate and provides information on the presence of any genetic illnesses.