Recent developments in the field of genetics allow geneticists to perform genetic tests for the diagnosis of genetic changes in the embryo before implantation in the uterus of the mother. This method is called ‘genetic diagnosis of the embryo’ ‘(preimplantation genetic diagnosis). Preimplantation genetic diagnosis procedure is performed by removing the embryo obtained by fertilization of the egg and sperm in a laboratory, on the third day of development – one cell and on the 5th day of development – 4-6 cells.
The purpose PGA is primarily identifying chromosomal mutations and disease associated with impaired DNA, prior to the pregnancy, that is still in the embryonic period. Moreover, this method is used for infertile couples who resort to IVF, to help identify possible genetic disorders common in the embryo.
This method is recommended for those who want to have healthy children, despite the presence of the parents of some genetic disease, or infertile couples who wish to become parents with the help of reproductive technology such as the kstrakorporalnoe fertilization and microinjection, have an increased risk of chromosomal abnormalities in their embryos.
For the diagnosis of chromosomal disorders in the embryonic stage at our center chromosomes studied technique FISH. Furthermore, by using CGH methods and NGS (next generation sequencing) may conduct the study of chromosome 24. Again, using molecular genetic techniques revealed diseases such as thalassemia, cystic fibrosis, spinal muscular atrophy, SMA, etc. and during the in vitro fertilization embryos are healthy and to determine their HLA and Rh genotype can be identified.