Pre-implantation genetic testing for monogenic disease
Recent developments in embryo culture, freezing technologies and DNA analyses have considerably improved and extended the uses of pre-implantation genetic diagnosis and testing. We have made significant investments in the implementation of DNA diagnostics and the methods of developmental biology. PGT can be used to test for single gene disorders and chromosomal abnormalities.
Pre-implantation genetic testing for monogenic disease, or PGT-M, helps couples who are at risk of having a child with a serious hereditary disorder.
How is pre-implantation genetic testing done?
In PGT-M, embryos fertilised through in vitro fertilisation are cultured for 5–6 days, after which a biopsy of 5–8 cells is taken from the embryos that have reached the blastocyst stage. Biopsied embryos are frozen using the vitrification method, which is more reliable than the traditional freezing process, because it improves the embryos’ post-thaw survival rate and consequently the chances of pregnancy. Based on the results of the analysis, the chosen embryos can later be transferred to the uterus.
Using pre-implantation genetic diagnosis we can basically examine any known genetic disorder. Embryos can also be screened for hereditary abnormalities in their chromosome structure, such as translocations (PGT-SR = preimplantation testing for structural rearrangements).