June 28th, 2023


Today is International Neonatal Screening Day (INSD), an opportunity to raise awareness about the importance of neonatal screening to speed-up diagnosis and treatment. Neonatal screening saves lives. Current evidence from world-wide neonatal screening programmes and pilots clearly demonstrates that the early asymptomatic detection enabled by neonatal screening, when linked to appropriate treatment, can be life changing and even lifesaving.

Research by Charles River Associates (CRA) recently showed that Ireland is lagging behind its European peers in the screening of newborn babies. Ireland is screening fully for only eight diseases in newborns via the heel prick test, while other European countries screen for more than 30.  Ireland ranks 23rd out of over 30 European countries after falling from 21st place in the past six months.

Although Severe Combined Immunodeficiency (SCID) was approved for inclusion last December, it still hasn’t been implemented. The lag in implementation of testing after approval is worrying as there is a risk some children will miss out on an early diagnosis and thus treatment that can be life-changing and sometimes life-saving benefit when started before symptoms develop.

We are awaiting an outcome from the Health Information and Quality Authority (HIQA) who are currently reviewing if SMA should be included in the heel prick test for newborn babies.  Testing for SMA in newborns has already been approved in 15 EU countries and MDI are advocating for its approval and subsequent implementation of testing in a timely manner.  MDI have also applied to National Screening Advisory Committee (NSAC) for Duchenne Muscular Dystrophy to be assessed as part of their review process for inclusion in the NBS programme.

Today is an important day to raise awareness about the value of neonatal screening and encourage collaboration and the sharing of best practices to continually improve routine screening and ensure the newest scientific evidence is incorporated in a timely manner.  The INSD is an initiative led by the International Society for Neonatal Screening (ISNS), the International Patient Organisation for Primary Immunodeficiencies (IPOPI) and the European Society for Immunodeficiencies (ESID), which have been working in partnership under the multi-stakeholder Screen4Rare initiative. For further information, visit the INSD website.

Dympna Mulroy
Research Officer

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Categories: Uncategorized

1. Muscular Dystrophies

  • Becker muscular dystrophy
  • Duchenne muscular dystrophy
  • Manifesting carrier of Duchenne
  • Congenital muscular dystrophy
  •     •  General
  •     •  MDC1A (merosin-deficient congenital muscular dystrophy)
  •     •  Rigid spine syndrome (RSS)
  •     •  Ullrich congenital muscular dystrophies
  •     •  Bethlem myopathy
  • Emery-Dreifuss muscular dystrophy
  • Facioscapulohumeral muscular dystrophy
  • Limb-girdle types of muscular dystrophy (LGMD)
  •     •  General
  •     •  LGMD 1B (also known as Laminopathy)
  •     •  LGMD 1C (also known as Caveolinopathy)
  •     •  LGMD 2A (also known as Calpainopathy)
  •     •  LGMD 2B (also known as Dysferlinopathy)
  •     •  LGMD 2I
  • Ocular myopathies including ocularopharangeal muscular dystrophy

2. Myotonic Disorders

  • Congenital Myotonic Dystrophy
  • Myotonia
  • Myotonic Dystrophy

3. Congenital Myopathies

  • Central Core Myopathy
  • Congenital Fibre-type Disproportion Myopathy
  • Minicore (Multicore) myopathy
  • Myotubular or Centronuclear myopathy
  • Nemaline myopathy

4. Mitochondrial Myopathies

  • Mitochondrial Myopathies

5. Metabolic Disorders

  • Metabolic disorders (general)
  • McArdle’s Disease
  • Pompe’s Disease

6. Periodic Paralyses

  • Periodic Paralyses

7. Autoimmune Myositis

  • Polymyositis, Dermatomyositis and Sarcoid myopathy
  • Juvenile dermatomyositis
  • Inclusion body myositis

8. Spinal Muscular Atrophies

  • Severe (Type I)
  • Intermediate (Type II)
  • Mild (Type III)
  • Adult spinal muscular atrophy

9. Hereditary Motor and Sensory Neuropathies

  • (Also known as Charcot-Marie-Tooth or Peroneal muscular atrophy)

10. Disorders of the Neuromuscular Junction

  • Congenital myasthenic syndromes
  • Myasthenia Gravis

11. Friedreich’s Ataxia

  • Friedreich’s Ataxia

12. Other (Please Specify)

13. Unspecified