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Preimplantation Genetic Testing, PGT-M

PGT-M can end the cycle of inheritable genetic illness in your family

If an inheritable genetic illness runs in your family, you might worry about passing it to your child. This is a real concern if you and/or your partner has or carries a specific genetic disease. Thankfully, you can still have a healthy baby with help from IVF and PGT-M at our New Braunfels fertility center. Using this form of preimplantation genetic testing, Susan Hudson MD can ensure that she only transfers embryos that don’t have the illness.

What is PGT-M?

This type of preimplantation genetic testing represents the latest in advanced IVF laboratory technique. PGT-M used to be called PGD. While the name has changed, the technique has not.

Our New Braunfels fertility center can order PGT-M as part of an IVF cycle. Between the steps of fertilization and the embryo transfer, geneticists can perform a biopsy on the embryo, during which they remove a small number of cells that can be sent to a genetics laboratory for this specialized testing. Unlike PGT-A, which simply identifies which embryos are chromosomally normal, this type of testing goes a step further. It can identify which embryos have or carry a specific inheritable genetic illness.

The following list includes some examples of common genetic disorders that can be detected (and prevented) by using PGT-M.

  • Cystic fibrosis
  • Hemophilia
  • Muscular dystrophy
  • Polycystic kidney disease
  • Sickle cell disease
  • Tay-Sachs disease

The importance of preconception carrier screening

Preconception carrier screening is one of the first steps in a routine infertility evaluation. While many people know that they carry an abnormal gene that can cause an inheritable genetic illness, most do not. This is because most genetic illnesses require the presence of two abnormal genes – one that an affected person receives from his/her mother and one from his/her father. If only one abnormal gene is present, the person does not actually have the genetic disease; rather he/she is a “carrier” of the genetic abnormality. Most carriers are asymptomatic and totally unaware of their carrier status. This is why genetic carrier screening is so important – it allows us to diagnose whether you and your partner could pass a genetic illness to your children and prevent it from ever happening.

Carrier screening only requires you and your partner to submit a blood or saliva sample to one of our genetics reference labs. Our team will determine whether your samples contain any single gene defects.

If your test reveals any defects, the genetics team will use a known genetic probe or create a specific one from your genetic material. This probe is critical for the next steps of preimplantation genetic testing.

What are the next steps for this form of preimplantation genetic testing?

Once the genetic probe is available, the embryologists will carefully remove six to eight cells from your IVF embryos and then freeze the embryos. They will ship the biopsied cells to the genetics laboratory, where the team will combine them with the genetic probe. This will help the geneticists see whether the embryos have or carry the inheritable genetic disease.

Our New Braunfels fertility center will then receive a PGT-M report with the test results. Dr. Hudson will only transfer an embryo that doesn’t have the genetic illness, allowing you to have a healthy baby.

If you would like to learn more about this or any other type of preimplantation genetic testing, contact our team to schedule a consultation. We look forward to helping you on your journey to parenthood.