Stop inherited disease with preimplantation genetic testing for monogenic disorders: PGT-M

Thanks to state-of-the-art science, Park Avenue Fertility and Reproductive Medicine can ease the minds of patients who worry about passing on genetic illnesses to their children, using genetic testing that is anything but routine. Preimplantation genetic testing for monogenic disorders can stop the cycle of inheritable diseases. Our fertility expert, Dr. Andrew Levi, offers PGT-M in Connecticut as an option for IVF patients needing pinpointed testing.

It is a less commonly used form of genetic testing because it is highly specialized and requires a commitment of both time and financial resources. Results from this testing can reveal which embryos do not carry a genetic disease. This aids in the embryo-selection process.

PGT-M isn’t routine

Just like your individual fingerprint, everyone’s genetic code is different. Preimplantation genetic testing for monogenic disorders is not your typical diagnostic test because it is tailored to each family’s genetics. Many monogenic diseases or conditions require an individual to inherit two copies of an abnormal gene: one from the mother and one from the father.

To use PGT-M, we first identify which genetic condition we are looking for. A customized molecular probe is developed to test embryos created through IVF. Part of the complexity of PGT-M in Connecticut is that it is not a “one size fits all” test.

Here are just a few conditions that this type of genetic test can detect.

• Cystic fibrosis
• Huntington’s disease
• Sickle cell anemia
• Muscular dystrophy
• Tay-Sachs disease
• Polycystic kidney disease

Some patients know through their family histories that they carry an abnormal gene they could pass to their child. However, other individuals do not know they are carriers because they carry one normal gene and one abnormal gene (not both). In this case, an individual could be a symptomless carrier of a genetic disorder.

Dr. Levi, our physician who personally oversees all patient care at Park Avenue Fertility, offers carrier screening as part of an initial fertility evaluation. This blood test can alert symptomless carriers of the presence of a genetic condition. Based on test results, patients choosing PGT-M in Connecticut will receive more advanced genetic testing.

If you opt for preimplantation genetic testing for monogenic disorders in your IVF cycle, a small biopsy of cells from each embryo will be taken and sent to a genetics laboratory. The embryos are securely cryopreserved and stored, so that once test results come back, we can choose the healthiest embryos for transfer.

Choosing preimplantation genetic testing for monogenic disorders is a personal decision

Of course, the decision to pursue PGT-M in Connecticut is individual. Dr. Levi helps couples at Park Avenue Fertility navigate the complexities of IVF treatment, recognizing that testing for monogenic disorders is highly specialized. However, there are instances in which he could recommend this testing.

• If a patient has a known family history of genetic conditions, or if they are personally affected
• People who have a child with a genetic condition
• Patients receiving carrier screening results showing they could pass a genetic condition to their child

Park Avenue Fertility prioritizes personalized care and can answer questions about preimplantation genetic testing for monogenic disorders. Contact us for more information.