The Royal Devon University Healthcare NHS Foundation Trust has celebrated the arrival of the 50th baby born through a cutting-edge genetic testing service.

Baby Annie’s mum was born with Ichthyosis with Confetti, an extremely rare genetic condition. Thanks to the pioneering service, Annie and her five-year-old sister, Elsie, did not inherit the condition.

Mum, Georgina, said:

“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 beautiful little girls.”

Pre-implantation Genetic Testing (PGT) is a type of IVF treatment that involves testing embryos for the condition within the family, enabling couples affected by serious inherited conditions to have an unaffected baby. The Exeter-based PGT service involves a range of healthcare professionals from Exeter Fertility and the Peninsula Clinical Genetics Service and is the only PGT service in the South West. It is run in collaboration with Guy’s and St Thomas’ Hospital in London, the UK’s largest PGT provider.

Ichthyosis with Confetti is an extremely rare genetic condition characterised by severely dry, red, scaly, and inflamed skin that is highly susceptible to infection. Reported in less than 50 people worldwide, the condition may also increase the risk of developing skin cancer. The condition has a 50% risk of being passed down to any future children, and some babies are so profoundly affected that they sadly do not survive.

Georgina and her husband, Simon, first met with the Exeter-based PGT service in 2014 at the very first PGT clinic. Although treatment was initially delayed due to Georgina’s health, the Devon-based couple later welcomed their first child, Elsie, through the service. Baby Annie was born in July 2024.

Emma Kivuva, Consultant Clinical Geneticist and Genetics Lead for the service at the Royal Devon, said:

“We are extremely proud to have marked the milestone of the 50th baby born thanks to the PGT service. By offering this service, we can help families who might otherwise face difficult decisions about having children due to their genetic risk. Providing a service in the South West makes treatment more accessible to people living in this region. We would like to congratulate the family on the safe arrival of their daughter.”

The Royal Devon is renowned for its world-leading genetic and genomic services. Find out more about innovation at the Royal Devon here

Image credit: Aga Kowalska Photography