News

The purpose of SMA Europe is to provide a framework to stimulate collaboration and accelerate translational research pathways in SMA and promote patient care.

  1. 28 June 2021 – first international neonatal screening day!

    28 June 2021 - first international neonatal screening day!Join us in celebrating!

    Maarssen, Netherlands; Brussels, Belgium; Delft, Netherlands.

    • The first International Neonatal¹ Screening Day (INSD) provides a unique opportunity to celebrate the vision of those who have pioneered and expanded neonatal screening programmes and will, in turn, encourage a new generation of doctors, scientists and policy makers to extend these benefits to more children suffering from a wider range of disorders.

     

    • The INSD is an initiative of 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 platform to promote the importance of neonatal (newborn) screening.

     

    • On this first INSD, neonatal screening experts (ISNS), patients (IPOPI) and healthcare professionals (ESID) invite all neonatal screening stakeholders to join in the celebration of this key preventive measure for the wellbeing of newborns and their families.

    June 28th celebrates the first International Neonatal Screening Day (INSD) and as a tribute to Dr Robert Guthrie, it is to be celebrated on his birthday. Dr Guthrie, an American microbiologist laid the foundations for the detection of children with inborn conditions in the newborn period and dedicated his life to raise awareness of the need for neonatal screening.

    Neonatal screening saves lives. Currently available scientific 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 lifesaving². While screening for some conditions, such as phenylketonuria (PKU) or congenital hypothyroidism (CH) are in place in most national programmes, the implementation of others, such as severe combined immunodeficiencies (SCID) or spinal muscular atrophy (SMA), is more limited, despite growing attention over the past decade.

    Let us build the future of neonatal screening on the many positive past achievements! On this first INSD let us recognise those, such as Dr Robert Guthrie who have made this possible and use it as an opportunity to thank all who deliver these services, day in and day out, to millions of babies across many countries and have continued to do so during the current COVID-19 pandemic. We are also joining to celebrate the willingness of individuals, parents, patients, and professional societies who are committed to offering support to develop new screening programmes in countries where these do not already exist or need additional support.

    Let us build on all these positive steps with increased collaboration and dialogue between all relevant stakeholders including screening experts, patients, scientists, healthcare professionals, policymakers, and industry in order to:

    • Raise awareness about the critical role of neonatal screening in accessing timely treatment and saving lives.
    • Support mechanisms of information exchange, data, and expertise on neonatal screening.
    • Consider scientific advances in screening programmes.

    We hope that INSD will help raise awareness about the value of neonatal screening and encourage collaboration as a way of improving existing screening programmes and to take advantage of the latest scientific developments.

    “International Neonatal Screening Day provides a great opportunity to celebrate the life changing benefits offered by newborn screening and to recognise the value of working together to extend these benefits to children in future generations. ISNS is proud to be part of this new and exciting venture”. Prof Jim Bonham, ISNS President

    “The INSD celebrates the ultimate goal of neonatal screening which is to optimize access to diagnosis and care for patients. IPOPI is delighted to join its stakeholders in this promising campaign which raises hope for patients and their families”. Martine Pergent, IPOPI President

    “Early detection is the cornerstone of optimised healthcare pathways. Let us celebrate the life-changing value of neonatal screening and vision for increased collaboration on the topic in the years to come to attain more equitable access worldwide”. Prof Isabelle Meyts, ESID President

    References and more information

    1 ISNS, IPOPI, ESID and Screen4Rare consider ‘neonatal’ and ‘newborn’ synonyms. In most languages outside English “neonatal” is more consistent with the local language (e.g., Dutch, German, French, Scandinavian languages). Hence it was decided to use “neonatal” when ISNS was created in 1987. Still, ‘newborn’ and ‘neonatal’ are synonyms.

    2 Wiley, V.; Webster, D.; Loeber, G. Screening Pathways through China, the Asia Pacific Region, the World. Int. J. Neonatal Screen. 2019, 5, 26.

    3 Find out what is happening for SMA