PGT-M: Preimplantation Genetic Testing for Single-gene Defects

The PGT-M Technology: Karyomapping

Preimplantation genetic testing for monogenic/single gene defects (PGT-M), is performed at the blastocyst stage embryos to ensure that the subsequent offspring will not be born with a specific genetic disease. Patients who have a genetic disorder or are suspected of one, or possibly who have a closely-associated family member suffering from a genetic disorder could opt for this procedure to reduce the risk of genetic disorders in the child to-be-born.

PGT-M employs a karyomapping technology to map hundreds of thousands of data points across the entire genome and then undertakes a linkage analysis to identify possible defects.

The PGT-M Process

Preimplantation testing for monogenic/single gene defects is a part of the IVF process and involves multiple steps to accomplish. Firstly, the doctor will undertake a review of your history and ascertain the grounds for such a test. If required, some DNA samples of yours and your close-family members may be collected for testing first. If the grounds for PGT-M are established, then the embryos are retrieved as part of IVF and frozen.

The embryologist removes some cells from the embryo and are sent for testing. The final step is the transfer of the embryos into the uterus following a successful result and discussion with the patient.

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