Molecular diagnostic methods play an important role in identifying the genetic causes of infertility, as they make it possible to detect DNA mutations in patients.
Molecular genetic testing can be performed at different stages of development:
• Postnatal diagnosis in children and adults — to establish or confirm a diagnosis, detect asymptomatic genetic mutations, and assess genetic predisposition to certain diseases. Material used: peripheral blood leukocytes;
• Preimplantation genetic diagnosis (PGD) — to select embryos that have not inherited a genetic defect from their parents. Material used: embryonic blastomeres or trophectoderm cells.
A clinical geneticist can determine whether genetic testing is necessary and which tests should be performed. During the consultation, you will receive detailed information about the diagnostic process and the management of specific genetic conditions.
Preimplantation genetic testing of embryos.
Currently, preimplantation genetic screening (PGS) makes it possible to determine whether an embryo has the correct number of chromosomes before it is transferred into the uterine cavity.
PGS reduces the risk of implantation failure, early miscarriage, and the birth of a child with a chromosomal abnormality, while increasing the chances of a healthy pregnancy.