Pre-Implantation Genetics

Pre-Implantation genetic testing comprises a group of genetic assays used to evaluate embryos before transfer to the uterus. Pre-Implantation genetic testing-monogenic (known as PGT-M) is targeted to single gene disorders. Pre-Implantation genetic testing-monogenic uses only a few cells from the early embryo, usually at the blastocyst stage, and misdiagnosis is possible but rare with modern techniques. Confirmation of pre-implantation genetic testing-monogenic results with chorionic villus sampling (CVS) or amniocentesis should be offered.

To detect structural chromosomal abnormalities such as translocations, pre-implantation genetic testing-structural rearrangements (known as PGT-SR) is used. Confirmation of pre-implantation genetic testing-structural rearrangements results with CVS or amniocentesis should be offered.
The main purpose of pre-implantation genetic testing-aneuploidy (known as 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 had pre-implantation genetic testing-aneuploidy, in accordance with recommendations for all pregnant patients.

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