Genetic Testing and Counseling

PGT-M

Preimplantation Genetic Testing for monogenic disorders (PGT-M) is a type of preimplantation genetic testing that screens embryos for inheritable diseases of which one or both parents are known carriers.

During PGT-M testing, embryos are evaluated for the presence of specific abnormal genes. Embryos with these mutations are at risk for developing conditions such as BRCA1 and BRCA2—which are connected with breast cancer—sickle cell anemia, and muscular dystrophy.

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As part of the PGT-M process, a probe or analyzing tool will be created based on the parents’ specific gene mutations and will be used to identify that mutation in the cells from their embryos. The cells are removed from the embryos by the embryologists in the IVF lab and shipped to the PGT lab for analysis. The embryos are cryopreserved (frozen) in the IVF lab while the PGT lab performs the testing and delivers results. Once the results are received, the embryo that has shown to not carry the mutation will be thawed and transferred, significantly reducing the risk of having an affected child.

Our fertility specialists can help you decide if PGT-M testing is the right decision for you during your IVF treatment. We recommend this type of preimplantation testing to determine the healthiest embryo for implantation into the uterus. By choosing to transfer an embryo without a genetic mutation, you can decrease the chance of the monogenic disease being passed down to all future generations in your family tree.

A List of Conditions That PGT-M Tests Can Identify and Eliminate Includes:

  • Cystic Fibrosis
  • Spinal muscular atrophy (variations)
  • Fragile X syndrome
  • Sickle cell anemia
  • Hereditary breast-ovarian cancer 1
  • Hereditary breast-ovarian cancer 2
  • Huntington Disease
  • Polycystic kidney disease variants
  • Duchenne/ Becker muscular dystrophy
  • Myotonic dystrophy 1+2
  • Neurofibromatosis 1+2
  • Charcot Marie Tooth (variations)
  • 21-hydroxylase deficient congenital adrenal
  • hyperplasia
  • Hemophilia A
  • Familial adenomatous polyposis
  • Marfan syndrome

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Preimplantation Genetic Testing (PGT)

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