I commonly receive requests from the public and healthcare professionals to consider the expansion of the national newborn bloodspot screening programme. All babies (between 3 and 5 days old) born in Ireland are currently screened for 8 rare but serious medical conditions as part of the programme.
- cystic fibrosis
- congenital hypothyroidism- phenylketonuria- classical galactosaemia- MCADD (medium-chain acyl-CoA dehydrogenase deficiency)- homocystinuria- maple syrup urine disease- glutaric aciduria type 1
The most recent expansion of the programme occurred on 03 December 2018 when screening for Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) and Glutaric Aciduria Type 1 (GA1) commenced.
As per recommendation 5 contained within the Scally Review (2018), a National Screening Committee will be established and become operational before the end of 2019. This is to strengthen the governance, transparency and oversight of any proposed new programmes or changes to existing programmes. Similar to the UK National Screening Committee, the Committee’s role will be to undertake an independent assessment of the evidence for screening for a particular condition against internationally accepted criteria and make recommendations accordingly.
Any future potential changes to the National Newborn Bloodspot Screening Programme will be incorporated as part of the Committee's work programme.