Preventing genetic conditions through pre-implantation genetic testing (PGT)
Georgina has a severe and widespread case of Ichthyosis with confetti, an extremely rare genetic skin condition causing red and scaly skin from birth. Managing the condition requires lifelong treatment and care, as affected skin is vulnerable to infections and even skin cancer. The disease carries a 50% chance of being passed on to children, and tragically, some babies do not survive.
Georgina did not believe that it was possible to have children without the risk of passing on the disease, which given her personal experience was an unbearable thought to her. However, the availability of pre-implantation genetic testing (PGT) gave hope and ultimately a solution.
Georgina: “Having a rare condition is incredibly isolating. Finding the gene causing my Ichthyosis in 2013 was the game changer, in fact it resulted in me being re-diagnosed with a different type of Ichthyosis to the one named at my birth 32 years before. The new diagnosis of Ichthyosis with confetti brought a far greater risk of passing on the condition but opened the doors to the amazing opportunity and hope of PGT.”
Changing the odds and overcoming genetic challenges
Pre-implantation genetic testing (or PGT) is an advanced technique to reduce the risk of passing on severe genetic diseases to children. Embryos are produced by routine in vitro fertilisation (IVF) and then are tested for a specific genetic condition, before pregnancy begins. This approach empowers couples who are affected by or carry serious inherited disorders to make informed choices and gives them the chance to conceive an unaffected baby and break the cycle of genetic disease.
Georgina received PGT thanks to a collaboration between her local genetic specialist centre and experts in PGT Service at Guy’s and St Thomas’ Hospital, Synnovis, the largest PGT provider in the UK. After successful IVF and testing, Georgina is now the proud mother of two children.
Georgina: “I never imagined that having children would be a possibility for our family – not a day goes by where I don’t have to pinch myself that these two bundles of joy have been brought into our lives. We cannot thank the whole team behind our two little miracles enough. They are our world. I hope sharing our story will help others to be in the very lucky position we find ourselves in with two little beautiful girls.”
Rare Disease – Partner for Life
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