Preimplantation Genetic Testing

If indicated for medical reasons, you may opt to have preimplantation genetic testing (PGT). In this procedure, a group of cells would be biopsied from your embryo(s) at the blastocyst stage and sent away for genetic analysis.

There are three types of PGT. First, the most common testing is PGT-A that tests for aneuploidy, which indicates an unbalanced number of chromosomes within the biopsied cells. A well known example is trisomy 21 or Down’s Syndrome. The second option is PGT-M which screens the embryo(s) for known single gene or monosomic defects. The final type is PGT-SR for structural rearrangements of chromosomes like translocations, inversions, duplications, etc.