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Spotlighting the work of HSE childhood screening programmes

By Julinda Schroeder - 07th Jan 2024

screening programmes
Dr Abigail Collins

Dr Abigail Collins, National Clinical Lead for the HSE Child Health Public Health Programme, speaks to
Julinda Schroeder about a new report on the achievements of the national children’s screening programmes

A three-year report of the HSE National Children’s Screening Programmes, which covers the period 2020-2022, was published recently.

According to Dr Abigail Collins, National Clinical Lead for the HSE Child Health Public Health Programme and co-author of the report, one of the objectives of the document was to highlight the work and achievements of the programmes.

“When people talk about screening programmes, there’s obviously a lot more focus and attention on the adult ones, and sometimes the children’s screening services and the important work that they do for families goes a little bit further under the radar,” Dr Collins told the Medical Independent.

The children’s screening services provide two population level screening programmes in Ireland, both for newborns. The National Newborn Bloodspot Screening Programme screens for rare, but serious medical conditions, such as phenylketonuria, congenital hypothyroidism, and cystic fibrosis. All conditions currently screened for as part of the programme have a relatively high incidence in the Irish population.

The National Universal Newborn Hearing Screening Programme screens for hearing loss. The aim of the programme is to identify all children born with moderate to profound permanent unilateral or bilateral hearing loss by three months of age.

The programmes are part of the National Healthy Childhood Programme, which is delivered to all children.

Positive impact

Over the three-year period covered by the report, a total of 172,785 babies were screened through the bloodspot screening programme, while 170,751 babies were screened through the hearing screening programme.

“That’s a testament to how well [these parents] understand the importance of the screening programmes and to our colleagues on the ground who are talking with parents,” Dr Collins said.

These colleagues include public health nurses and other healthcare staff who provide parents with information and guidance in the antenatal period.

Dr Collins said the statistics contained in the document demonstrate the positive impact the two programmes are making. According to the report, approximately 120 babies are diagnosed with a rare condition each year and 80 to 90 babies are diagnosed with childhood hearing loss.

The key focus of both screening programmes is early identification and appropriate interventions to reduce mortality and/or morbidity.

As noted, approximately 200 babies per year are identified as having very significant conditions in terms of risk of morbidity and mortality.

“And those 200 babies and families have the opportunity for early diagnosis and the commencement of treatment that can radically alter the child’s life.”

Dr Collins also said the quality assurance mechanisms in place were “really important” in minimising the false positive results that can occur on occasion.

The newborn bloodspot screening programme has not been informed of any false negative cases for babies screened between 2020 and 2022. Sensitivity for newborn hearing screening cannot be reported as there are no large-scale studies that have performed diagnostic testing on all newborns to identify the number of false negative instances.


In 2023, the Department of Health approved recommendations from the national screening advisory committee (NSAC) to add all types of severe combined immunodeficiency (SCID) and spinal muscular atrophy to the newborn bloodspot screening programme. This will bring the number of conditions screened for to 11, once fully implemented.

A ninth condition, adenosine deaminase deficiency SCID, had been added to the programme in May 2022. It followed the addition of medium-chain acyl-coenzyme A dehydrogenase and glutaric aciduria type 1, both in 2018.

In his foreword to the report, Dr Colm Henry, HSE Chief Clinical Officer, said the Executive will continue to liaise with the NSAC and HIQA with regard to proposals to add more conditions so Ireland is more in line with other European countries.

Regarding future expansion, Dr Collins said that one of the big challenges was resources. She referred to the planned relocation of the newborn bloodspot screening programme to the New Children’s Hospital in Dublin, which was resulting in some upheaval.

“You’re building up your resources at one end while still maintaining your resources at the other end and delivering the programme – it is a real challenge for us,” she said.

In general, she stressed that the limited timeframe in which tests are be carried out presented a definite logistical challenge. Bloodspot screening needs to be performed between day three and day five after a baby is born. “You don’t have much time for this and so it has to be very carefully mapped and monitored.”

In terms of funding, Dr Collins said that delivering the screening programmes was expensive because it encompassed a more complex process than the initial test.

Funding has to support technical resources as well as human expertise in a range of different areas, with all aspects of the programmes being closely intertwined. “I think resourcing for the programmes going forward is something that needs to be very transparent.”

Recommendations made by the NSAC, and accepted by the Minister for Health to include more conditions, have funding implications. Dr Collins reiterated that expanding the programmes requires new equipment and people with specific expertise who need to be recruited. In addition to extra resources, she said there needs to be “realistic timelines”.

Dr Collins pointed out the HSE has recently gone to tender for a provider to deliver the newborn hearing screening service. The contracted party is expected to have a system of clinical governance in place, with clear and robust lines of responsibility and accountability. Tenderers are required to provide an outline of their line management and clinical structure for the service delivery and their resource allocation to meet the requirements of the service across the 19 maternity sites identified. The deadline for applications is 19 January.

I think resourcing for the programmes going forward is something that needs to be very transparent


Dr Collins referred to the resilience of the programmes, which continued to operate during the Covid-19 pandemic and following the cyberattack on the HSE in 2021.

She commended the “very committed group of people” involved in the screening programmes, including public health nurses.

The report stated the newborn bloodspot screening programme was grateful to colleagues across the maternity hospitals/units and public health nursing services who continued to visit new parents/guardians, predominantly in their homes, to support and counsel families and take screening samples.

“The fact that over the last five years [2018-2022] three new conditions have been brought into the bloodspot screening programme, with very little resources or fanfare, shows the commitment from the people delivering the programmes,” according to Dr Collins.

“There is a whole layer of complexity around each one of those conditions. It gets put under the umbrella of one screening programme. But it’s nine screening programmes and each screening programme has layers within it as well. I really want to thank the people involved in delivering the screening programmes, and thank the families out there [who] enter the screening programmes for bloodspot and hearing. I’m very passionate about these programmes, so it’s lovely to be able to shine that light on them.”

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