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Newborn screening

baby holding a mother's hand

Newborn screening (NBS) is a comprehensive system that includes various elements such as testing the newborn, diagnosis, communication of information to parents, follow-up care and storage of samples for secondary use.

NBS is important to people living with a rare disease and their families because for approximately 70% of rare diseases the onset occurs during childhood, but for many diseases clinical signs of symptoms do not appear in the first days or months following birth.

Conditions that newborns are screened for in NBS programmes include some rare diseases where early intervention can prevent the onset of disease symptoms or delay disease progression, improving the quality of life of the newborn, deriving a benefit for the patients, their families and society.

Recent and continued scientific and technological advancements have opened up the discussion on the expansion of NBS programmes to include rare diseases that could be screened using new sequencing techniques.

Different countries have advanced at different rates on their NBS programmes. The number of conditions included in national newborn screening programmes varies per country. For example, newborn screening in Ireland includes 8 conditions, in UK 11 conditions, in Germany 17 conditions,  in the Netherlands 22 conditions and in Italy 49 conditions.

11 Key principles for newborn screening

EURORDIS, alongside its Council of National Alliances, Council of European Federations and its members, have set out 11 Key Principles to support an harmonised European approach to Newborn Screening.

Advocating for harmonised criteria and adequate policies for newborn screening

Although in some Member States, the new and expanded NBS programmes include screening for a wider range of conditions, there is little agreement on which diseases should be included in national screening programmes.

Variations in the NBS practices developed in the 1960s among European countries highlight the need for collaboration and common uptake of NBS criteria for including new diseases in the newborn screening programmes across Member States. Having a uniformed approach among all Member States is of particular importance to improve the lives of babies born with a rare disease and their families.

EURORDIS advocates for the harmonisation of criteria and adequate policies for newborn screening in every EU Member State.

Last year, with input from the EURORDIS NBS Working Group and rare disease national alliances/ European Federations, we published a series of principles for harmonious uptake/adoption of NBS programmes across Member States with a view to delivering maximum benefit and improving outcomes for babies born with rare diseases.

In 2020, EURORDIS also held a EURORDIS Round Table of Companies workshop on NBS. Read the workshop concept paper to understand the Newborn Screening decision-making processes and gain insight about diverse national approaches.

EURORDIS Newborn Screening Working Group

The EURORDIS Newborn Screening Working Group (NBS-WG) was set up to review current policy and practice in the field of NBS, in order to develop principles for harmonious uptake/adoption of the NBS programs across Member States with a view to delivering maximum benefit and improving outcomes for babies born with rare diseases.


The 20+ members of the NBS-WG include representatives from patient organisations, international screening societies and international and national federations with a focus on NBS:

Name Organisation Country
Antoni Montserrat ALAN Luxembourg
Bojana Mirosavljevic Life Organisation- Zivot Serbia
Claas Rohl NF Kinder – Verein zur Förderung der Neurofibromatoseforschung Österreich Austria
Cor Oosterwijk VSOP The Netherlands
Dorota Zgodka FH Europe Switzerland
Edith Gross EURORDIS France
Eduardo Lopez AELALD Spain
Fiona Ulph ESHG/ University of Manchester UK
Gulcin Gumus EURORDIS Spain
Laetitia Ouillade SMA Europe France
Lora Ruth Wogu European Sickle Cell Federation Ireland
Luc Zimmermann EFCNI Germany
Magdalena Daccord FH Europe Austria
Manuela Vaccarotto AISMME Italy
Mark Turner University of Liverpool United Kingdom
Martina Cornel Amsterdam UMC The Netherlands
Nejc Jelen Viljem Julijan Association Slovenia
Nick Meade Genetic Alliance UK United Kingdom
Patricia Arias FEDER Spain
Rene Brectan Rare Diseases Czech Republic Czech Republic
Roseline Favresse EURORDIS France
Simon Wilde Genomics England United Kingdom
Simona Bellagambi UNIAMO Italy
Taruscio Domenica Istituto Superiore di Sanità Italy
Urh Groselj FH Europe Slovenia
Valentina Bottarelli EURORDIS Belgium
Vera Frankova Charles University Czech Republic
Vigdis Stefansdottir ESHG /University of Iceland Iceland


  1. Wilson JMG, Jungner G. Principles and practice of screening for disease. Geneva: WHO; 1968. Available from:

Diagnosis course doctor writing

EURORDIS Priorities on Diagnosis

A diagnosis can serve as the key to unlocking access to appropriate medical and social care. Getting an accurate diagnosis even when there is no treatment provides the opportunity for people living with a rare disease and their families to plan their care and future.

Contact the team

Gulcin Gumus
Research & Policy Project Manager