PGT-M Icon What Is PGT-M

PGT-M is a test that is specifically designed to screen embryos created through in vitro fertilisation (IVF) for a known mutation that is causing a familial genetic condition, such as Cystic fibrosis or Tay-Sachs disease.

PGT-M is a laboratory test that is used to help detect single gene conditions prior to pregnancy to greatly reduce the risk of having an affected child.

Some patients may choose to include preimplantation genetic testing for aneuploidy (PGT-A) in addition to PGT-M to reduce the risk of chromosome abnormalities as well as the familial genetic condition.

By Identifying Embryos That Most Likely Do Not Carry a Specific Genetic Condition, PGT-M Can:

Introduction to PGT-M

Enable the transfer of embryos most likely to be unaffected

Introduction to PGT-M

Reduce the chances of a genetically at-risk couple of passing on a known genetic condition to their offspring

Who Should Consider PGT-M?

  • Couples who are carriers of the same autosomal recessive condition (e.g. Cystic fibrosis)
  • Carriers of an X-linked condition (e.g. Duchenne Muscular Dystrophy)
  • Couples where one partner has an autosomal dominant condition (e.g. Huntington’s disease)
  • Couples where one partner has a mutation associated with a hereditary cancer syndrome (e.g. BRCA1 & 2)
  • Couples who had a child or pregnancy with a single gene disorder
  • Couples who want to perform Human Leukocyte Antigen (HLA) matching
Who should consider PGT-M?
Technology

Technology

PGT-M forms part of an IVF process and involves the testing of cells from embryos to determine their risk of a genetic condition.

A PGT-M test is designed for every family’s unique mutation, using a technique called linkage analysis, which creates DNA markers around the gene that carries the mutation. This technology allows for PGT-M tests to be designed within 6 weeks.

Following test design, IVF would then take place. A sample is taken from the embryo on day 5 or day 6 of development. The embryo is then frozen while the sample is sent to the laboratory for testing.

Methodology

Step 1

Genetic counselling and case review

Step 2

Collection of DNA samples from relevant family members

Step 3

IVF cycle and embryo biopsy

Step 4

Custom test design, and laboratory testing of embryo biopsy samples typically 4 to 6 weeks

Step 5

Results released to your fertility clinic

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Frequently Asked Questions

Find answers to common questions about PGT-M:

Embryo biopsy has not been shown to increase health risks in children born following IVF when performed appropriately.

No test can guarantee a child will not have medical issues. PGT-M tests specifically for the known familial genetic condition and does not screen for unrelated conditions.

No, unfortunately medical aids do not currently cover PGT-M.