Page URL:

Scottish couple first to use new fertility screening service

24 January 2011
Appeared 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’.

CF Trust
The UK's only national charity dealing with all aspects of cystic fibrosis (CF) |  26 May 2022
Parents’ joy at success of gene testing
Herald Scotland |  17 January 2011
Scottish couple are first to undergo groundbreaking fertility screening
NHS Lothian |  19 January 2011
6 July 2009 - by Ben Jones 
A Scottish woman is suing Lothian Health Board for medical negligence after a cystic fibrosis (CF) test performed on her while pregnant produced a false negative result. The 41 year old woman from Edinburgh provided a mouthwash sample during her pregnancy in 1994, which tested negative for mutations in her CF gene. However, after her son was born in 1995, it was found that he had inherited the condition from her. Though the test was reported as negative, the claimant alleges that it was actua...
7 March 2005 - by BioNews 
Scottish couples at risk of having a child affected by a life-threatening inherited condition are set to benefit from a new preimplantation genetic diagnosis (PGD) service. PGD involves testing IVF embryos, to ensure that only embryos unaffected by a particular genetic condition are returned to a woman's womb. Until now...
10 September 2004 - by BioNews 
UK researchers have developed a human embryonic stem (ES) cell line which carries the genetic defect underlying cystic fibrosis (CF). The scientists, based at King's College London, say the cell line will be useful for studying how the CF gene mutation affects cells, as well as for testing out gene...
6 May 2003 - by BioNews 
Confusion over results obtained through a national screening programme for cystic fibrosis (CF) in the US may have lead to some women having unnecessary prenatal tests, according to a report in New Scientist. At a recent conference, the American College of Medical Genetics (ACMG) warned delegates that some genetic tests...
6 May 2003 - by Juliet Tizzard 
This week's BioNews reports on cystic fibrosis antenatal screening programmes in the United States in which some pregnant women may have been given the wrong information about their chance of having a baby with the condition. Some antenatal tests were carried out unnecessarily and, according to the American College of...
to add a Comment.

By posting a comment you agree to abide by the BioNews terms and conditions

Syndicate this story - click here to enquire about using this story.