Preimplantation genetic diagnosis

The main purpose of assisted reproductive technologies consists in the occurrence of pregnancy and the birth of healthy children. Today, a large step forward has been made in treating previously incurable forms of infertility, and the range of possibilities of ART as well as the potential of molecular genetic diagnosis of single cells has significantly increased.
Preimplantation genetic diagnosis (PGD) is an effective as well as the earliest type of prenatal diagnosis allowing us to study the genome of an embryo before its transfer into a uterine cavityю

The principal advantage of PGD is that is does not involve invasive surgery performed on the gestational sac and that there is a possibility of terminating pregnancy in case a pathology is found.

PGD helps to achieve the following:

• A decrease in the number of unsuccessful transfers;
  
• A decrease in the number of spontaneous abortions;
  
• A higher chance of pregnancy in patients from a risk group (late reproductive age, multiple unsuccessful IVF attempts, a grave male infertility factor, the carriage of translocations);
  
• A decreased risk of passing on hereditary diseases;
  
• A decreased risk of chromosomal pathologies in new-borns.
  
  

Aside from those, with the help of PGD we can carry out investigations as regards late-onset genetic disorders, for example, due to a mutation/mutations of cancer susceptibility genes, which prenatal diagnosis is incapable of, as well as perform HLA embryo typing for further collection of umbilical blood aimed at obtaining stem cells for transplantation (for the treatment of an ill sibling).
The efficacy of genetic diagnosis depends on the quality of material, laboratorial equipment and laboratory employees' qualifications.