Newborn Screening: A Drop of Blood Can Change a Life, But a Standard Is Needed

A drop of blood, collected in the first 72 hours of life, can make the difference between an early diagnosis and a sealed fate. Extended neonatal screening (ENS), made mandatory in Italy by Law 167/2016, represents one of the most important achievements of national public health. It allows for the timely identification of over 50 rare diseases, many of which are potentially devastating, but treatable with timely and targeted interventions. Early diagnosis means more effective treatments, fewer complications, better quality of life and, last but not least, significant savings for the National Health Service.

The principle behind screening is simple: to identify in advance, through a non-invasive test, serious pathologies that, if not intercepted immediately, risk seriously compromising the development and health of the newborn. Today, about 50 disorders are included in mandatory screening, but the list is growing: more recent panels include conditions such as spinal muscular atrophy (SMA) and severe congenital immunodeficiencies (SCID).

But having good intentions or cutting-edge technologies is not enough. For screening to be truly effective and fair throughout the country, all laboratories involved must operate according to shared criteria, with uniform procedures and comparable results. This is where a crucial element comes into play: accreditation according to the UNI EN ISO 15189:2024 standard.

This international standard is not a mere formal requirement: it represents a real operational tool to ensure that screening is conducted with rigor, coherence and transparency. Adhering to UNI EN ISO 15189 means having validated procedures, tracking each phase of the diagnostic process, guaranteeing the analytical quality of the data and offering reliable results, with measurable and documented levels of uncertainty.

The standard provides stringent criteria to evaluate the overall adequacy of medical laboratories, throughout the entire cycle of activities. From the responsibility of personnel to the quality of spaces and equipment, to the management of samples and materials, each phase - from collection to communication of results - must meet precise and measurable requirements. The goal is to guarantee standardized, reliable and constantly improvable controls.