PGT-M: Preimplantation Genetic Testing for Single Gene Conditions

At Nandini IVF, we offer Preimplantation Genetic Testing for Monogenic (Single Gene) Conditions (PGT-M), an advanced genetic test for embryos. This option is available to patients who are carriers of a genetic condition or are directly affected by one.

When is PGT-M Considered?

PGT-M may be a suitable option if:

  • Both partners are known carriers of an autosomal recessive condition.
  • The female partner is a carrier of an X-linked condition.
  • Either partner is affected by an autosomal dominant condition.

Our dedicated genetic counseling team will help you explore all your reproductive options, including PGT-M, if you find yourself in this situation. Your fertility specialist can then advise if fertility treatment with PGT-M is the right path for you.

Understanding PGT-M

Single gene conditions arise from a change in one or both copies of a specific gene, leading to health impacts. While any genetic condition diagnosable in an adult can theoretically be screened for in an embryo, the testing method differs. This often involves an additional test design process before you can proceed with IVF and PGT-M.

PGT-M can screen for most known inherited genetic conditions, including but not limited to:

  • Cystic fibrosis
  • Fragile X
  • Spinal muscular atrophy
  • Alpha or Beta-thalassemia
  • Duchenne muscular dystrophy
  • Huntington’s disease
  • Hereditary breast/ovarian cancer (BRCA1/BRCA2)

How is PGT-M Performed?

The most common method for testing embryos is through a process called “karyomapping.” This advanced technique uses DNA fingerprinting technology to identify which embryos have inherited the specific genetic variant present in your family.

Here’s how it generally works:

  1. Embryos are grown to Day 5 of development.
  2. A few cells are carefully removed from the outer layer of the embryo (this is called an embryo biopsy).
  3. These cells are then sent to the Nandini IVF Genetics laboratory for testing.

Beyond identifying single gene conditions, this test can also detect common chromosome changes that may affect the chances of implantation and increase the risk of miscarriage.

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