PGT-M

Pre-implantation Genetic Testing (PGT) allows us to test embryos before transferfor known single gene conditions

PGT-M was formerly known as PGD, Preimplantation Genetic Diagnosis, or PGD IVF.

For people who know they are at increased risk of passing on a specific genetic condition, PGT-M, or (Preimplantation Genetic Testing for monogenic / single gene defects), can be performed prior to pregnancy to greatly reduce the risk of having an affected child.

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

You may be considering PGT-M if:

  • You and your partner are carriers of the same autosomal recessive condition (e.g. Cystic fibrosis, Sickle Cell Disease and Beta Thalassemia)
  • You 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, Marfan Syndrome and Myotonic Dystrophy)
  • You or your partner have a mutation associated with a hereditary cancer syndrome (e.g. BRCA1 & 2 or Lynch Syndrome)
  • You have had a child or pregnancy diagnosed with a single gene disorder

PGT-M tests are created uniquely for each family. PGT-M can be performed for nearly any single gene disorder as long as the specific familial mutation has been identified and appropriate family members are available for test preparation where required.

It may be possible to develop a unique PGT-M test for you if you are the first person to be diagnosed with the condition in your family.  All cases are assessed following referral.

PGT-M It is one of the best techniques available to assist in identifying and avoiding known certain diseases, allowing your baby to have a healthy start in life.

Could Pre-implantation Genetic Testing (PGT-M) be helpful for me?

Pre-implantation genetic testing is for people concerned about passing a known inherited disease or condition, like cystic fibrosis, beta thalassaemia and Fanconi anaemia, hereditary breast and ovarian cancer onto their children. You won’t necessarily have fertility problems, though if needed we can help with these too.

Since PGT-M was first licensed by the Human Fertilisation and Embryology Authority (HFEA) the list of genetic conditions we can test for has been growing steadily. PGT-M can now be performed for almost any single gene disorder with an identified mutation and availability of appropriate family members. If you’re wondering whether you can have PGT-M for an illness affecting you or your partner,you can check the HFEA list of licensed conditions here. If your condition isn’t on this list, we’ll investigate whether we can develop a test for it and then ask the HFEA for approval. 

 

How does PGT-M work?

PGT-M for single gene disorders involves testing embryos created through in vitro fertilization (IVF) and then transferring unaffected embryos. The following schematic shows how a section of DNA can be tracked from the parents through to the embryos to identify healthy embryos for transfer.

Are there any risks associated with PGT-M?

To reduce the risk of multiple pregnancies which is associated with IVF/PGT-M treatment, single embryo transfer is recommended. At CARE, the safety of our patients is key to everything we do and because the risk of complications is higher in a twin pregnancy, we recommend single embryo transfer following PG-M treatment. This has resulted in our multiple pregnancy rates being among the lowest in the UK, whilst maintaining among the highest success rates. If you have any additional, unaffected embryos from your treatment then they can be kept frozen for possible transfer in the future.

The PGT-M process

1. Case Review

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2. PGT-M Test Preparation

The PGT-M lab designs a test unique to you
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3. IVF

You will have IVF treatment, CARE will fertilise your eggs and incubate your resulting embryos
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4. Embryo Biopsy

One of our team of highly skilled embryologists will carefully removes a small cell sample from each of your embryos when they have developed for 5 or 6 days.
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5. Embryo freeze

CARE will freeze your embryos while testing takes place.

6. Testing

Your embryo samples are sent to the PGT-M laboratory, testing is performed, and results are given to your PGT team at CARE Fertility
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7. Embryo transfer

One of your embryos which has been identified as being free of the genetic condition will be transferred. Your remaining embryos can be frozen for future use.
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Your next step

If you are eligible for NHS funded treatment – please contact your local genetics service and request a referral to CARE Fertility Nottingham.

If you are considering PGT privately funded treatment speak with your Insurance provider in the first instance as they may be able to provide more information about financial assistance.  You can contact our PGT team using the self-referral form, providing copies of genetic reports to allow our team to provide a swift answer to your enquiry.

Download the CARE referral form