New campaign calls for urgent action to expand Ireland’s newborn screening programme

Rare Diseases Ireland (RDI) has today, April 17, launched a new campaign calling for the urgent expansion of newborn heel prick screening services provided by the HSE, highlighting how babies born in Ireland are screened for half the average number of health conditions compared to other European countries.

According to RDI, screening for an increased number of conditions would mean that approximately 200 babies born in Ireland each year could have their lives saved or have better health for life. This is because newborn screening enables doctors to diagnose babies early, and start treatment and onward care as soon as possible and often before symptoms appear.

The National Newborn Bloodspot Screening Programme (NNBSP), more commonly known as the heel prick test, which is part of the HSE National Children’s Screening Programme, screens for nine conditions in comparison with the European average of 18 conditions minimum.

Heel prick services, which involve taking a small sample of blood from a newborn baby’s heel, are provided between 72 and 120 hours after birth for the early identification of serious medical conditions and rare diseases.

Speaking at the launch of the Get Rare Aware Campaign at Government Buildings today, CEO of Rare Diseases Ireland Vicky McGrath said, “For our 2024 Get Rare Aware campaign, we are calling on TDs, senators and MEPs to take urgent action to expand the number of conditions screened for under newborn heel prick test screening services in Ireland. Ireland needs a comprehensive newborn screening programme that is adequately resourced to enable expansion and ensure that babies born in Ireland are screened for at minimum the European average number of 18 conditions. Newborn screening is a programme that would benefit further from European collaboration to ensure that babies born across the EU receive equal care”.

“The limited services and resources available for expansion of newborn screening dramatically impacts the life of children born in Ireland, and particularly those born with a rare disease. Action can be taken when health conditions tested for in newborn screening are identified. The wellbeing of whole families will also be improved as delayed diagnosis has a significant financial and psychological impact on families”.

In Ireland, babies are screened for nine diseases at birth, which is less than the numbers screened for in 75% of other European countries, including Austria, Italy, Portugal and Russia, which test for a minimum of 30 conditions. Slovakia, Ukraine, Poland, Hungary, Czech Republic, Estonia, Germany, Finland, Denmark, Norway, Netherlands and Sweden screen newborn babies for a minimum of 20 conditions.

Among the diseases newborn babies are screened for in other European countries that are not currently part of Ireland’s NNBSP are sickle cell disease (SCD), a rare blood disorder that blocks blood flow and prevents normal flow of nutrients and oxygen around the body, and spinal muscular atrophy (SMA), a rare neuromuscular condition causing progressive muscle wasting and weakness leading to loss of movement. 

These and over 30 other conditions are included in the National Screening Advisory Committee newborn screening work programme, however, according to Ms McGrath, inadequate resources at the HSE remains a barrier to expansion.

Only one disease — adenosine deaminase deficiency severe combined immunodeficiency (ADA-SCID) — has been added to Ireland’s newborn screening programme in the last five years. Two conditions were added in 2018 — medium chain acyl CoA dehydrogenase deficiency (MCADD) and glutaric aciduria type 1 (GA1), which were preceded by cystic fibrosis six years earlier in 2011. Up until then, for a period of 32 years (1979–2011), the number of diseases screened for under the NNBSP did not change.

RDI is hosting online information events broken down by the country’s six HSE Health Regions over the next three months as part of the Get Rare Aware campaign. The events will bring together politicians, medical experts and patient representatives to highlight the challenges encountered in relation to the expansion of newborn heel prick test screening services provided in Ireland. The events are open to the public.

The first of the Get Rare Aware information events covers HSE Dublin and Midlands Health Region, spanning Dublin West and South-West, Laois, Longford, Offaly, Kildare, West Wicklow and Westmeath. It is taking place at 12.30pm tomorrow, Thursday, April 18.

The second Get Rare Aware information event covers HSE Dublin and South East Health Region, covering South-East Dublin, Carlow, Kilkenny, South Tipperary, Waterford, Wexford and most areas of Wicklow. It is taking place at 12.30pm on Tuesday, April 23.

For more information about the Get Rare Aware campaign and to register to attend the online information events, go to