Rare Diseases Ireland (RDI) is calling for the urgent expansion of newborn heel prick screening services provided by the HSE, highlighting how infants 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, as newborn screening enables doctors to diagnose infants early, and start treatment and onward care as soon as possible, 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. 

 

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,” she added.

 

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) and spinal muscular atrophy (SMA).