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:

Enable the transfer of embryos most likely to be unaffected
Reduce the chances of a genetically at-risk couple of passing on a known genetic condition to their offspring

PGT-M is appropriate for anyone who has a high-risk of passing on a single-gene disorder:

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

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.

PGT-M - Process consolidated

Case review: Prospective parents speak with the Next Biosciences genetic counsellor and discuss if additional genetic testing of the couple or other family members is required.
Genetic counselling: Patient and partner go for a compulsory PGT-M specific genetic counselling session with the genetic counsellor at Next Biosciences.
Test design: Cheek swabs are collected from the specific family members. DNA from affected/carrier/non-carrier family members is collected via cheek swabs. This DNA is used to design the PGT-M test. This can take 6-8 weeks.
Once the test is designed and approved, Next Biosciences will contact you and your referring IVF clinic, to notify you and your clinic that your IVF treatment can begin.
Trained embryologists at the IVF clinic biopsy each embryo on the 5^th or 6^th day of development. The biopsy removes a few cells from each embryo which has no impact on the development of the embryo when performed by a suitably qualified embryologist. The cells are sent to the PGT-M lab for testing. Testing takes 4-6 weeks from receipt of the samples at the PGT-M laboratory, while your embryo is frozen and kept safely at the fertility clinic.
The PGT-M laboratory will release the results of the test to Next Biosciences, which will be forwarded to your IVF clinic. With this information your doctor will be able to select the most appropriate embryo to transfer.

Is PGT-M safe?

Yes, scientific studies have shown that embryo biopsies do not add risk factors to the health of babies born after IVF.

Do normal PGT-M results mean that the embryo is normal?

No test can guarantee that a baby will not have any medical issues. PGT-M does not test for all genetic and non-genetic problems that may be present in a baby. Genetic counselling before and after testing is recommended.

How long does the PGT-M process take?

The whole process can take up to 4-5 months to complete.

The initial genetic counselling, testing of family members, and test preparation can take approximately 6-8 weeks.

Once the test is prepared, IVF treatment can commence. The embryos will have to be biopsied, and the sample cells sent to the PGT-M lab for testing. This can take up to another 6 weeks.

When can I start IVF for PGT-M?

It recommended that you do not start any IVF treatment (controlled ovarian hyperstimulation) before the test design process is complete. During this time, you will have a genetic counselling session to understand the process and the different possible outcomes to ensure that you do wish to proceed with PGT-M before undertaking any IVF treatment.

Do medical aids cover the cost of PGT-M?

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

Preimplantation Genetic Testing for families with a known genetic condition, to reduce the risk of passing on a genetic condition to future generations