Types of genetic testing

Preimplantation genetic testing (PGT) is the testing of a sample of embryo cells during In Vitro Fertilization (IVF) before transfer to the uterus.

The goal of PGT is to reduce the chance that the embryo has a disorder and/or chromosomal abnormality that could lead to non-implantation, pregnancy loss, or the birth of a child with a genetic disorder.

To check, a sample of cells is taken from the embryo.

Embryo biopsy testing is a highly effective screening tool.

But embryo testing is constantly evolving.

Currently, the main PGT tests are PGT-A (aneuploidy), PGT-SR (structural rearrangement), and PGT-M (monogenic disease).

PGT-A checks embryos for aneuploidy.

Aneuploidy occurs when there is at least one extra or missing chromosome.

PGT-M tests for single gene disorders, which are those caused by a genetic mutation(s) or misspelling of a specific gene and passed from parent to child in a specific pattern.

The PGT-SR test is performed on a blood sample and studies the number and structure of chromosomes.