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PGT-M Testing

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

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 disorders), can be performed prior to pregnancy to greatly reduce the risk of passing the genetic condition to 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 is one of the best techniques available to assist in identifying and avoiding known monogenic diseases, allowing your baby to have a healthy start in life.

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

The PGT-M Process

Prospective parents speak with a genetic counsellor and discuss if additional genetic testing of the couple or other family members is required.

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

You will have IVF treatment, Care will collect and fertilise your eggs and incubate your embryos.

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.

Care will freeze your embryos while PGT-M testing takes place. Your embryo samples are sent to the PGT-M laboratory, testing is performed, and results are given to your genetics team at Care.

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.

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. 

Your next step

The first step is to contact the PGT team at Care with a copy of your chromosome result to perform the initial check that imbalances arising from the translocation can be detected at the embryo stage.

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.