Screen4Care Launches Recruitment for Newborn Screening in Ferrara, Italy

The Screen4Care project is an innovative research initiative by a European consortium, led by the University of Ferrara and Pfizer, aimed at improving the early diagnosis of rare genetic diseases in newborns. These rare diseases, caused by genetic mutations, often manifest in childhood and include conditions such as Mediterranean Anaemia, Cystic Fibrosis and Duchenne Muscular Dystrophy. The project introduces a newborn genetic screening programme that analyses DNA collected from a simple heel-prick blood sample. By examining 245 specific genes linked to treatable rare diseases using the innovative TREAT-panel tool, the initiative significantly expands the detection capabilities of existing metabolic screenings, which are limited to identify a small number of rare conditions through blood metabolites.

Who Can Participate?

Families are warmly invited to take part in this voluntary and free programme. Participation is open to:

• Parents who are in the first half of their pregnancy or have recently given birth.
• Families who provide informed consent after receiving detailed information about the project.

Please note: The recruitment is currently planned at the Screen4Care’s project birth sites of Ferrara and Rome (Italy), Freiburg, Erlangen, and Goettingen (Germany), and Dijon (France). In case more birth sites will be included we will post this information on the Screen4Care website.

How Does It Work?

The screening process starts with a small blood sample taken from the baby’s heel, which is analysed to identify genetic conditions linked to treatable rare diseases. Families are then informed of the results within approximately 90 days from the enrolment:

• Negative findings are shared through email or letters for reassurance.
• Positive findings lead to a scheduled interview, where results are discussed in detail with the family.

If a condition is detected, the project ensures families are connected to:

• Local care providers, and/or
• Expert centres within the European Reference Networks (ERNs) for tailored support in diagnosis, prevention, and treatment.

For newborns who show symptoms but test negative in the initial screening, whole genome sequencing (WGS) is available to provide a more comprehensive genetic analysis.

This structured approach helps families to access crucial information and care, paving the way for potential early interventions.

For more information, watch the video below.