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PGT-M (Preimplantation Genetic Testing
for Monogenic disorders)

The selection of ‘normal or Euploid’ embryo(s)
following genetic testing before a transfer procedure

Introduction to Preimplantation Genetic Diagnosis

PGT-M is used alongside an IVF cycle for couples who have a known inherited disease in their family to avoid passing on the genetically transmitted condition to their child and future generations. In some instances, both parents may simply be a carrier. PGT-M involves checking the genes or chromosomes of your embryos for a specific genetic condition ensuring that only embryos that are not at risk of developing the known disorder are identified for implantation.

Currently, our regulatory body, the HFEA has approved over 400 conditions for testing using PGT-M including, Thalassaemia, Down Syndrome, Sickle cell disease, Cystic fibrosis, Inheritable cancer pre-dispositions, Dominant/Recessive Polycystic Kidney Disease, Congenital adrenal Hyperplasia, Hemophilia, Huntingdon’s Disease, Muscular dystrophies and Fragile-X syndrome. For a detailed list of all approved conditions, you can view the list of approved conditions here: https://www.hfea.gov.uk/treatments/embryo-testing-and-treatments-for-disease/approved-pgt-m-and-ptt-conditions/

Single gene disorders

Single gene disorder detection using Karyomapping enables us to check for mutations or changes in both partner’s genes which can increase an inherited risk to your children of developing a genetic disease. Before biopsies are taken from the embryos, a work-up must be done where simple cheek swabs are obtained from the couple and a relative of known disease status, which in most instances will be an affected child of the parents. These samples are then sent for analysis to enable us to identify any presence of a mutation. Only once the workup is ready and successful can the couple undergo an IVF cycle to produce embryos which can be biopsied and tested. Embryo(s) that are clear of the affected gene can then be used in a frozen embryo transfer (FET) cycle.

Risks and side effects

Not all the embryos that are produced will reach the stage for biopsy. Additionally, some of the embryos that are biopsied may not give a genetic diagnosis. Typically 90% of the embryos will give a result.  A very common risk is that the couple may not have any genetically suitable embryos for transfer. There is a very small risk of misdiagnosis of an embryo. Your genetic counselor will discuss all the risks with you prior to the treatment.  In the event that no embryos develop or in the case that no embryos are free of a known condition, your consultant will discuss prospective treatment paths and can answer any questions you may have.

Chromosomal rearrangements

A special type of testing called  PGT-SR (PGT for structural rearrangements) can be offered to individuals/couples with a chromosomal rearrangement; which are changes in the normal arrangement or size of chromosomes. Many carriers of balanced chromosome rearrangements are healthy and may be unaware of their carrier status until they try to have children.

PGT-SR is appropriate for people who have had a child or pregnancy with a chromosomal rearrangement or if you or your partner are a carrier of any one of these three primary types of rearrangements:

  • reciprocal translocations
  • Robertsonian translocations
  • inversions

Testing for any of these chromosomal rearrangements using PGT-SR can vastly improve the chance of establishing a successful pregnancy and healthy live birth.

Why Choose Us?

Here are some facts about your fertility journey with us that we’d like to share with you:

Every evaluation and treatment plan is uniquely tailored to meet your individual needs

You will have access to leading professionals, with over 35 years combined expertise, providing you with confidence and reassurance in your fertility diagnosis and subsequent treatment

Our multidisciplinary team includes specialists in fertility, urology, nutrition, counselling, genetics, endocrinology, haematology and weight management to provide a comprehensive range of support as and when you need it

We will work with you closely to understand your individual circumstances, identify any problems and agree with you, the best course of action to help make your dream a reality

We will always be honest and open about your chances of success with treatment.

Your comfort and care is always our top priority

Our focus remains entirely on you as an individual, your unique needs and your wellbeing

All investigations and treatments are provided within our new state-of-the-art clinic based in Elstree which offers a spacious environment with comfortable surroundings, to enhance your care and experience. We offer investigations and scans at our satellite locations too.

Our friendly consultant-led team is here to support you at every step throughout your fertility journey

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