Key principles for newborn screening

January 2021

Newborn screening is the process of systematically testing newborns just after birth for certain treatable diseases. Ideally, this practice is part of a larger programme that includes confirmatory diagnosis, immediate care, treatment and follow-up.

Early diagnosis leads to a better life for people living with a rare disease. Newborn screening is a way to provide this: families are able to plan better for their child’s care and treatment, and make informed decisions about future pregnancies. In many cases, this early intervention prevents severe disabilities from developing and can save lives.

Yet across Europe today there are significant discrepancies between the policies and programmes for Newborn Screening.

For the first time, 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. The vast inequalities across Europe, coupled with technological and scientific advances highlight the urgent need to move forward from the status quo.

We are calling on European Union institutions and Member States to adopt these Key Principles to guarantee the human right of achieving the highest standard of health for all newborns.

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The voice of rare disease patients in EuropeEURORDIS The international voice of people living with rare diseasesRare Disease International Bringing together patients, families and experts to share experiences in a moderated multi-language forum. RareConnect The Rare Barometer Programme is a EURORDIS initiative that carries out surveys to transform rare disease patients' experiences into figures and facts that can be shared with decision-makers.Rare Barometer An international awareness raising campaign taking place on the last day of February each year, Rare Disease Day is a EURORDIS initiativeRare Disease Day Join the largest gathering of rare disease stakeholders across Europe, at the biennial European Conference on Rare Diseases and Orphan Products. ECRD is a EURORDIS initiativeEuropean Conference on Rare Diseases