Scottish couple are first to undergo groundbreaking fertility screening

A SCOTTISH couple have become the first to undergo groundbreaking fertility screening to prevent their son being born with cystic fibrosis.

Baby Thomas was born on 14 November after parents Lee, 40 and Stephen, 37, became the first to undergo pioneering pre-implantation genetic diagnosis for a single gene disorder in Scotland.

The Western General Hospital in Edinburgh has become the only hospital in Scotland to offer the pre-implantation testing for single gene disorders, such as cystic fibrosis and fragile x syndrome.

Mum Lee and dad Stephen underwent the treatment because they are both carriers of the faulty gene which causes cystic fibrosis.

Until Thomas’s big sister Eden, 4, was born with cystic fibrosis, Lee and Stephen were unaware they were both carriers of the gene.

Lee said: “There was no history of cystic fibrosis in either of our families so it came as a shock when Eden was diagnosed with the condition after she was born.

“We probably spent the first three years in shock and trying to make sure we could deal with Eden’s symptoms. Although she is generally quite well we have to be careful she doesn’t catch any infections, as her immune system isn’t as able to fight infection.”

Around one in 25 people carry the faulty gene, but it is only when two carriers have a child together that the condition can be passed on.

There is a one in four chance that a child born from two carriers of the faulty gene will have cystic fibrosis and a one in two chance of being a carrier.

Pre-implantation genetic diagnosis involves the testing of embryos, created through IVF treatment, to ensure they are free of genetic conditions, before they are implanted.

After caring for Eden and managing her symptoms, Lee and Stephen decided to undergo the groundbreaking pre-implantation genetic diagnosis to ensure their next child was free from the condition.

Lee added: “Looking after one child who has cystic fibrosis can be tough at times, but if you had two children with cystic fibrosis, trying to ensure both were kept well and don’t cross infect each other would be much more difficult. We always knew that we wanted another child, and we were really pleased when we got the opportunity to undergo this treatment.”

Dr Mary Porteous, Consultant in Clinical Genetics, NHS Lothian, carried out the genetic testing for the treatment.

She said: “It is fantastic that we are now able to offer this treatment for couples who are affected by single gene defects, and I am pleased that Lee and Stephen were the first couple to benefit from it.

“Being able to carry out pre-implantation genetic diagnosis for single cell defects is a tremendous step forward and I hope this will benefit many more families in Scotland.”

19/01/2011