PGT - Preimplantation Genetic Testing

At Monash IVF, we offer advanced genetic testing of embryos to patients in certain circumstances. These add-on tests may boost your chances of a successful pregnancy.

However, genetic testing might not be beneficial for everyone, in some cases it may not be recommended. Your fertility specialist will be able to advice whether or not genetic testing is right for you.

Preimplantation genetic testing for monogenic conditions (PGT-M)

Monash IVF offers Preimplantation Genetic Testing (PGT) for monogenic conditions (PGT-M). This test is suitable for patients with a family history of a monogenic disorder (such as cystic fibrosis or Huntington’s disease) who are at risk of passing this disorder onto their embryos and future children.

We use a sophisticated technique known as Karyomapping to screen embryos for specific genetic conditions.

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

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

Karyomapping is a single nucleotide polymorphism (SNP) test that uses a DNA finger-printing technique to identify which embryos have inherited the altered gene. It also has the potential to detect some chromosome abnormalities which may lead to implantation failure, miscarriage, or abnormalities at birth.

How is PGT-M performed?

The most common method of testing embryos is via ‘embryo or blastomere biopsy’. During this specialised procedure, our scientists carefully remove some blastomeres or embryonic cells on Day 5 of the embryo’s development. These cells are then tested using Karyomapping for the specific familial genetic condition, as well as for chromosomal abnormalities.

Looking for more information?

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

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