PGTM

What is PGTM 

Preimplantation Genetic Testing for Monogenic Disorders (PGTM) is a specialized genetic test designed to detect specific inherited disorders caused by mutations in a single gene. This test allows patients with a family history of genetic disorders to identify embryos that are free from the specific condition being tested. The goal of PGTM is to select embryos with the highest potential for developing into a healthy child, free from the targeted genetic disorder.

Even if you don't have fertility issues, PGTM with IVF treatment can be recommened. It’s an excellent way to ensure that your children do not inherit known genetic conditions, and eliminate the condition from your future generations. In this process, you would undergo IVF, where embryos are created in a lab where cells are biopsied from embryos that reach the blastocyst stage (on days 5, 6 or 7 of embryo development), and DNA is extracted and analyzed in the lab to determine the presence or absence of the tested gene(s). Only the embryos that are not affected by the genetic condition being screened for are transferred to the uterus. 

For patients doing PGTM, you would have to send cheek swabs to the genetic lab doing your test, so that they can create probes specifically for you. This would allow them to locate and identify the tested gene(s) for you. 

Who should consider it? 

PGTM is ideal for families who have a serious inherited genetic disease such as Huntington disease, Sickle cell disease, Thalassemia  and others and want to avoid passing it on to their children (see the HFEA approved list of genetic conditions that can be tested for here). Some patients may also have de novo mutations. Meaning they have a genetic condition as a result of a mutation in their DNA which doesn’t run in their families.

N.B: if the disease you want to test for is not on the list, your clinic may contact the HFEA to request adding it onto the list (this usually takes 3 to 6 months). 

Most genetic labs now perform PGTA along with PGTM, since they have the biopsied cells for testing. So you get an additional chromosomal screening along with the screening for the tested gene. You have the choice to opt out of PGTA, so if this is something you wish not to do, make sure you inform your clinic. 

What does the research say? 

PGTM is a well-established procedure with documented efficacy. It has been accepted by governing organizations worldwide and is considered highly reliable, with accuracy rates often cited above 95%¹. This means that the results of PGTM are generally dependable for identifying embryos that do not carry the specific monogenic disorder being tested.

Safety

The process of PGTM involves taking a biopsy from the embryos to test their genetic material, which can cause some stress to the embryo. The risk of damaging the embryos from the biopsy process is around 3%^2,3, even though from our experience it is much lower. 

myfertility’s take on PGTM

PGTM is an extremeley powerful tool for preventing certain inherited genetic disorders. We strongly advise consulting a genetic counselor when undergoing PGTM. This can help you understand the potential outcomes and make the most informed choices for your family. 

Additionally, because there is always a small chance of error, we recommend undergoing prenatal genetic testing during your pregnancy to confirm the results of PGTM. This approach provides an additional layer of reassurance for expecting parents.

It's important to consult with a fertility specialist to determine the most appropriate treatment for your specific situation. 

If you want to learn more about the best fertility clinics for you, and which clinics do these treatments, be sure to check out our clinic finder and clinic matcher. We built these tools to help you find and match with IVF clinics and fertility specialists near you, and filter through them all based on their success rates, prices, patient reviews, technologies and support services offered. 

Find low cost IVF near you and top fertility clinics near you, and get a breakdown of all the hidden IVF costs and what to look our for. You can also join the myfertility circle on slack and chat with with other patients going through their fertility journey and our team of dedicated and experienced experts. 

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