PGT involves taking a few cells from the developing embryo and performing genetic analysis on these before any embryo transfer takes place.
There are three types of PGT, which are performed for very different reasons.
Pre-Implantation Genetic Testing for Aneuploidy (PGT-A)
PGT-A assesses whether your embryos have the correct chromosome complement.
Embryos which have an extra chromosome or a missing chromosome are called ‘aneuploid’, and these will either not implant or may result in an early miscarriage and thus would be avoided for transfer. An embryo with a normal chromosome complement is called ‘euploid’, and these would be preferentially selected for transfer.
Pre-Implantation Genetic Testing for Structural Rearrangements (PGT-SR)
A small number of patients have a known structural chromosome rearrangement that has been diagnosed by a clinical genetics team. These patients may experience difficulty conceiving or recurrent pregnancy loss.
PGT-SR (Preimplantation Genetic Testing for Structural Rearrangements) is used to identify embryos with the specific chromosomal arrangement previously diagnosed in the patient, helping to inform embryo selection for transfer.
Pre-Implantation Genetic Testing for Monogenic Disease (PGT-M)
A small number of patients may carry a known gene variant that has previously been identified by a clinical genetics team. Examples of conditions caused by a single gene defect include cystic fibrosis and Huntington’s disease.
PGT-M enables embryos to be tested for the specific genetic condition, helping to avoid the transfer of embryos that have inherited the affected gene.