24 January 2011
ByAppeared in BioNews 592
A couple have become the first to have a child free from cystic fibrosis (CF) after a new NHS fertility screening service became available in Scotland. Thomas was born on the 14 November 2010 to parents Lee and Stephen Smith from East Lothian in Scotland.
The couple discovered they were carriers for CF, when their daughter, Eden, now four years old, was diagnosed with the condition. Her mother, Lee said: ‘There is no history of it in either of our families so we didn’t suspect a thing’.
In the UK, there are more than 8,500 people with CF, which affects the internal organs, particularly the lungs and digestive system. It is estimated that 1 in 25 people carry CF gene. The condition is recessive and can be passed on when two carriers have a child together.
The couple became aware of the new service, pre-implantation testing, PGD (preimplantation genetic diagnosis) for single gene disorders, when trying for their second child. The Western General Hospital in Edinburgh, where the procedure was carried out, is currently the only Scottish hospital to offer the service for couples at risk of giving birth to children with single gene disorders, such as cystic fibrosis and fragile X syndrome.
Dr Mary Porteous, a Consultant in Clinical Genetics at NHS Lothian said: ‘It is fantastic that we are 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’.