What is preimplantation genetic testing used for?
Preimplantation genetic testing - monogenic (PGT-M) is aimed at disorders of individual genes, and genetic testing for aneuploidy (PGT-A) is a broader test that analyzes the presence of aneuploidy in all chromosomes, including 22 pairs of autosomes and the sex chromosomes, X and Y.
To detect structural chromosomal abnormalities such as translocations, preimplantation genetic
testing - structural rearrangements (PGT- SR) is used.
PGT-A
The main purpose of preimplantation genetic testing-aneuploidy (known as PGT-A) is to screen embryos for whole chromosome abnormalities.
Conventional diagnostic testing or screening for aneuploidy should be offered to all patients who have undergone preimplantation genetic testing for aneuploidy, as recommended for all pregnant patients.
PGT-M
Genetic testing before implantation - monogenic (known as PGT-M) is focused on disorders of individual genes.
Pre-implantation genetic testing - monogenic uses only a few cells of the early embryo, usually at the blastocyst stage, and misdiagnosis is possible but rare with modern techniques. Confirmation of preimplantation genetic testing - monogenic results with chorionic villus sampling (CVS) or amniocentesis should be offered.
PGT-SR
Preimplantation genetic testing - structural rearrangements (known as PGT-SR) is used to detect structural chromosomal abnormalities such as translocations.
Confirmation of the results of preimplantation genetic testing and structural alterations by CVS or amniocentesis should be offered.
