What is PGT-M?

Where PGT-A involves an analysis of the number of chromosomes an individual has, PGT-M involves a deeper analysis of genetic mutations at the gene level. The first step is to design a specific test for a particular mutation and then to use that test to look for the specific mutation in each embryo.

Who may benefit from PGT-M?

PGT-M is appropriate for people who are at high-risk of passing on a specific single gene disorder. You may consider PGT-M if:

  • You and your partner are carriers of the same autosomal recessive condition (e.g. Cystic fibrosis)
  • You are a woman and are a carrier of an X-linked condition (e.g. Duchenne Muscular Dystrophy)
  • You or your partner have an autosomal dominant condition (e.g. Huntington disease)
  • You or your partner have a mutation associated with a hereditary cancer syndrome (e.g. BRCA1 & 2)
  • You had a child or pregnancy with a single gene disorder
  • You want to perform HLA matching

PGT-M can be performed for almost any single gene disorder with an identified mutation. Before embarking on a PGT-M cycle we will need to check your condition has been approved for testing by the HFEA. If is has not we may be able to develop a test and have it approved by the HFEA. More information on PGT-M can be found on the HFEAs website here.

How is PGT-M done?

PGT-M is an adjunct to standard IVF/ ICSI treatment. Embryos are cultured for 5 days and at that point are assessed for quality and whether they are suitable for biopsy. If the embryos are suitable a small number of cells are removed from the outer membrane of the embryos, known as the trophectoderm, (which later develops into the placenta). Those trophectoderm cells are then sent to a specialist genetics testing laboratory for analysis. Meanwhile the embryos are frozen to allow enough time for the analysis to be done. WFI will receive the results after a few weeks.