PGT-M

Pre-implantation Genetic Testing (PGT) allows us to test embryos before transfer.

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.

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.

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

Pre-implantation Genomic Testing is for people who are concerned about passing an inherited disease or condition, like cystic fibrosis, beta thalassaemia and Fanconi anaemia, onto their children. You won’t necessarily have fertility problems, though if needed we can help with these too.

PGT-M was formerly known as PGD or Preimplantation Genetic Diagnosis. Since PGD 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, we can provide you with a complete list of licensed conditions. 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. 

 

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

You may consider PGT-M if:

  • You and your partner are carriers of the same autosomal recessive condition (e.g. Cystic fibrosis)
  • 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)
  • You or your partner have a mutation associated with a hereditary cancer syndrome (e.g. BRCA1 & 2)
  • You had a child or pregnancy 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

It is one of the best techniques available to assist in identifying and avoiding certain genomic diseases, and allows your baby to have a healthy start.

Are there any risks associated with PGT-M?

Multiple pregnancy is the main risk associated with PGT-M, however it can be reduced by having a single embryo transfer. 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 where we can. 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, we will fertilise your eggs and incubate your resulting embryos
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4. Embryo Biopsy
One of our highly skilled embryologists will carefully removes a small cell sample from each of your embryos.
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5. Embryo freeze
We 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 genomics team at CARE Fertility
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7. Embryo transfer
You will have embryo transfer with one of your embryos which has been identified as being free of the genetic condition. Your remaining embryos can be frozen for future use
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Your next step

If you would like to arrange a consultation, you can contact our Genomics team on 0800 564 2270. Or you can complete a self referral form here.