What is preimplantation genetic testing used for?

Preimplantation genetic testing - monogenic (known as PGT-M) is aimed at disrupting individual genes, and genetic testing of aneuploidy (known as PGT-A) is a broader test that analyzes the presence of aneuploidy in all chromosomes, including 22 pairs of autosomes and sex chromosomes, X and Y .

To detect structural chromosomal abnormalities such as translocations, preimplantation genetic testing - structural rearrangements (known as PGT - SR) is used.


The main purpose of preimplantation genetic testing-aneuploidy (PGT-A) is to screen embryos for whole chromosome abnormalities.

Traditional diagnostic testing or screening for aneuploidy should be offered to all patients who have undergone preimplantation genetic testing for aneuploidy, in accordance with the recommendations for all pregnant patients.


Genetic testing before implantation - monogenic (PGT-M) is focused on disorders of individual genes.

Before implantation, genetic testing-monogenic uses only a few cells of the early embryo, usually at the blastocyst stage. A false diagnosis is possible, but rare with modern methods. It is necessary to offer confirmation of the results of preimplantation genetic testing - monogenic results with sampling of chorionic villi (CVS) or amniocentesis.


Preimplantation genetic testing - structural rearrangements (PGT-SR) is used to detect structural chromosomal abnormalities, such as translocations.

It should be suggested to confirm the results of preimplantation genetic testing and structural rearrangements using CVS or amniocentesis.