CF screening for babies welcomed
Ireland has one of the highest rates of CF in the world — with a reported birth incidence almost four times the average rate of other European countries and the US.
Doctors have described the screening programme, which will be rolled out this summer, as a “leap forward in the care of Irish people with CF”.
The lack of such screening has meant Irish children can be aged 3-4 years before a definitive CF diagnosis is made — having suffered years of low weight, chest infections and sometimes malnutrition.
Cystic Fibrosis Ireland chief executive Phillip Watt said they “warmly welcomed the introduction of CF screening as Ireland is one of the last countries in Western Europe to bring it in”.
Paediatric respiratory consultant Barry Linnane, who sits on the steering board established to oversee the introduction of the programme, said, “an obvious and important benefit is the removal of the often long and arduous journey to diagnosis that many families endure”.
“There is also ample evidence which illustrates that individuals diagnosed through newborn screening have significantly improved nutrition, with knock-on benefits to vitamin levels, cognitive functioning, improved lung function, less antibiotic use and admissions, and ultimately improved survival”.
According to Dr Linnane, every newborn will be screened for CF as part of the standard heel-prick test administered to all newborns to screen for five rare metabolic conditions. The drops of blood that are taken by doctors will be sent to the National Newborn Bloodspot Screening Programme at Temple Street where they will be tested for high levels of immunoreactive trypsin (IRT).
If high IRT levels are detected, the blood will be screened for the genetic mutations that cause CF at Our Lady’s Hospital for Sick Children, Crumlin. If two mutations are identified, the infant has a high likelihood of having CF and so will then be offered a sweat test at the nearest specialist CF centre. Sweat tests are the gold standard method for diagnosing CF.
According to Dr Linnane, out of the 75,000 children born in Ireland each year, an average of 40 are likely to suffer from cystic fibrosis. Out of all the children subjected to the initial IRT test, 150 babies are likely to show high IRT levels while just 40-50 will ultimately display two gene mutations.
The HSE is developing governance and management structures for the introduction of CF screening and will hire four new laboratory staff to work on the scheme which will receive €850,000 of dedicated funding.
