PGT-M

When going through an IVF cycle, if one or both partners are a known carrier of a genetic condition, Preimplantation Genetic Testing for Single Gene Conditions can assess embryos for the condition prior to implantation in the uterus. This involves taking a small sample of the embryo’s cells and examining the genetic material.

Would you benefit from PGT-M?

PGT-M reduces the risk of your baby being born with an inherited genetic condition. In an IVF cycle, an embryo is created outside of the body and then implanted in the uterus. PGT-M involves embryo testing prior to it being implanted, so that its DNA can be analysed to see if it has inherited a specific genetic mutation.

PGT-M may be a beneficial part of your fertility treatment if:

you and your partner both carry a recessive genetic condition;
you or your partner carry an X-linked condition or dominant genetic condition;
you have previously had a child with a single gene disorder; or
you have a family history of one or more genetic disorders.

Unlike PGT-A which broadly screens for a range of chromosomal abnormalities, PGT-M is used to assess embryos for specific genetic conditions that are known to exist in the parents or in their family history. PGT-M is only a viable option where the exact gene that causes the condition being tested for is known. If there are genetic disorders in your family history that do not have a known cause, unfortunately PGT-M will be unable to test for them.

The PGT-M testing process

For people going through IVF, genetic testing gives us more information about the health of your embryos, and a greater chance of ensuring your baby does not develop any inherited conditions. Fertility treatment can be a long and emotional process, but using PGT-M can help provide some peace of mind.

Consultation: We get a detailed understanding of your overall health, with particular focus on the genetic conditions you are a carrier for, or those that are present in your family’s history. This typically also includes taking samples of DNA from you and your partner, other family members, and older children if you have them, to design a PGT-M test specific to your genetics.
Collection: The typical IVF process goes forward, with eggs being retrieved and fertilised with a sperm sample to create an embryo.
Biopsy: Embryos that successfully grow to the blastocyst stage (typically around 5 days after fertilisation) have a few cells removed from their outer layer. These cells are tested for any signs of a genetic mutation according to the genetic history of the parents. Embryos are then safely frozen using vitrification while we await results.
Implantation: Once results have returned, if an embryo is deemed suitable for transfer as part of IVF, it will be implanted directly into the uterus (embryo transfer) in hopes of a successful pregnancy. Remaining viable embryos will be frozen and stored for future use.

Once the biopsied cells have been received, it will likely take around 4 weeks for your results to be returned. Once we have them, we will organise an appointment with you to take you through the results and what we recommend for your next steps.

Results

In some cases, PGT-M testing will not lead to a full result. We assume when taking a biopsy that the sample of cells will fairly represent the cells of the whole embryo, but it is possible that the particular set of cells we collect does not have the genetic mutation while others do. This may lead to an unclear or inaccurate result.

It is possible that PGT-M will identify that all embryos are abnormal and not viable for transfer. This is an unlikely occurrence, and is typically less common in younger people, but it can mean that you are unable to have any embryos implanted. If this happens, we can help you understand why and how to move forward with other options and pathways. Some children may still be born with genetic conditions even if screening suggested they would not.

PGT-M is over 95% accurate, and while unfortunately it cannot give us absolute certainty, it is the best test we have for assessing specific genetic mutations.

Alternative tests

We take great care to assess as many different factors that affect fertility as possible. With different genetic tests, fertility assessments and even general health checks, our team looks at every aspect to find your best path to pregnancy.

Genetic Carrier Screening Test

By testing your saliva or a blood sample in a simple procedure we can screen for hundreds of potential genetic conditions and identify how likely you are to have a baby with different genetic conditions. We’ll support you with clear information and a comforting hand as you plan your next steps.

Preimplantation Genetic Testing for Aneuploidy (PGT-A)

Chromosomes carry all of an embryos’ genes, and aneuploidies are abnormalities in a cell’s number of chromosomes which can lead to negative pregnancy outcomes. PGT-A testing ensures that only embryos carrying the correct chromosomal number are transferred to the uterus during fertility treatment.

Fertility Health Check

To best understand your current fertility situation, we take a complete medical history from each patient, before getting a sense of your lifestyle, general health and how long you have been trying. We can assess your fertility health and help create the right program for you.

Egg Timer Test

Using a simple blood test, we can measure your level of anti-mullerian hormone (AMH), which tells us how many eggs you still have in your ovaries, known as your ‘ovarian reserve’. This helps us understand your level of fertility health relative to the average for your age.

FAQ

What is the difference between genetic testing and genetic screening?

The main difference is the time when the test is conducted. Genetic screening is typically conducted prior to falling pregnant (though it can be completed after), and is used to assess whether any prospective parents or donors are carriers of one or more genetic disorders. By contrast, genetic testing is used to assess whether any genetic conditions are present in an embryo. This can be done before pregnancy with PGT or during pregnancy with CVS (Chorionic villus sampling) or amniocentesis.

PGT-A vs PGT-M — what’s the difference?

While both involve embryo genetic testing, they each assess for different things. PGT-A is used to assess whether an embryo has the correct chromosomal arrangement, with that information used to identify whether the embryo is at risk of a broad range of genetic conditions. PGT-M is comparatively used to assess for markers of a specific genetic disorder when one or more of the parents are known to be a carrier.

Gain Confidence in Your Fertility Journey

If genetic conditions run in your family, we understand how important it is to feel confident about your fertility journey. PGT-M offers a way to carefully screen embryos during IVF, reducing the risk of passing on inherited conditions and providing clarity and reassurance.

At Create Fertility, our experienced team works closely with you to navigate the complexities of genetic testing with compassion and care, tailoring every step to your unique needs. Book an appointment with one of our fertility specialists or get in touch to discuss your options.