Monogenic genetic testing

Monash IVF also offers Preimplantation Genetic Testing (PGT) through advanced monogenic testing. This test is suitable for patients with a family history of a monogenic disorder who are at risk of producing embryos that are affected by that monogenic disorder. The technical name of this test is Karyomapping.

Monogenic disorders that may be detected includes (but not limited to):

  • Cystic Fibrosis
  • Fragile X
  • Huntingtons’ disease
  • Beta-thalassaemia or Spinal Muscular Atrophy.
  • Thalassaemia
  • 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.

Karyomapping has the potential to detect some chromosome abnormalities which may be associated with implantation failure, miscarriage, or abnormalities at birth.

How is it done?

The most common embryo testing method is ‘Embryo or Blastomere Biopsy’, whereby some blastomeres or embryonic cells are carefully removed on the fifth day of embryo development and tested.

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