PGT-M – Preimplantation Genetic Testing for Single Gene Conditions

At Monash IVF, we offer advanced genetic testing of embryos to patients who are carriers of a genetic condition or are affected by a genetic condition.

This may be when both partners are known carriers of an autosomal recessive condition, when the female partner is a carrier of an X-linked condition, or when either partner is affected by an autosomal dominant condition.

Our genetic counselling team will assist you in considering all reproductive options, including preimplantation genetic testing, if you are in this situation. Your fertility specialist will be able to advise whether fertility treatment with preimplantation genetic testing is right for you.


Preimplantation Genetic Testing for Monogenic (Single Gene) Conditions (PGT-M)

Single gene conditions occur when a change in one or both copies of a gene results in a health impact. Any genetic condition where a genetic test can be performed on an adult can be tested in an embryo, but the type of genetic test will be different and involve an additional test design process before the couple can proceed to IVF with PGT-M.

PGT-M can be used to screen for most known inherited genetic conditions including (but not limited to):

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

How is PGT-M performed?

The most common method of testing embryos is via a process called “karyomapping”. This advanced technique uses DNA fingerprinting technology to identify which embryos have inherited the genetic variant known in the family. Embryos which have been grown to Day 5 have cells removed from the outside layer of the embryo (“embryo biopsy”) and the cells are sent to the Monash IVF Genetics laboratory for testing. The test can also identify common chromosome changes which impact on the chance of implantation and miscarriage.

Looking for more information?

Book a complimentary 15 minute chat with one of our fertility nurses to discuss your options.

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