Newborn screening in Greece is entering a new phase: at the Institute of Child Health’s “Agia Sophia” Children’s Hospital in Athens, Revvity’s QSight® 225 MD UHPLC-MS/MS system is piloting an expansion from the four conditions Greek newborns have been screened for since 1974 to 29 additional metabolic disorders, all from the same dried blood spot already collected at birth.
A newborn screening program with 50 years of history
Since 1974, every newborn in Greece has received free screening for four conditions: phenylketonuria (PKU), G6PD deficiency, congenital hypothyroidism, and galactosemia. That program is run by EPPEN, the Neonatal Screening Directorate at the Institute of Child Health. The screening test covers confirmation, diagnosis, treatment, and long-term follow-up for every positive case, following World Health Organization criteria, with around 50 permanent staff working across 14 specialties to run it. Since 2018, the existing four-condition panel has run on PerkinElmer (now Revvity) instrumentation: the Panthera Puncher for automated dried-blood-spot handling, and the GSP system for the fluorescence immunoenzyme assays behind the results.
That infrastructure is the foundation the new pilot builds on, rather than replaces.
What the QSight 225 MD pilot adds
The expansion underway at the Institute of Child Health uses Revvity’s QSight® 225 MD UHPLC-MS/MS, an ultra-high-performance liquid chromatography system coupled to a triple quadrupole mass detector, to pilot screening for 29 additional conditions from the same blood spot: 14 amino acid metabolic disorders, 6 organic acid disorders, and 9 fatty acid beta-oxidation disorders.
Unlike the immunoassay method used for the original four-condition panel, tandem mass spectrometry can distinguish between dozens of individual metabolites in a single run. This is precisely why it’s the standard method international newborn screening programs have moved toward for expanded metabolic panels.
The instrument itself is built for that kind of high-volume, multi-analyte work. Its dual ion source runs ESI, APCI, or a mixed ESI/APCI mode across two independent probes, switching automatically between them without stopping a run, and an integrated column switcher lets the lab change applications without replumbing the system. A mass range of 5 to 1500 m/z and a dynamic range spanning six orders of magnitude give it the analytical reach needed to detect metabolites present at very different concentrations within the same sample.
On the operational side, the system’s on-board Simplicity™ 3Q MD software handles data acquisition, quantification, and reporting at the instrument level, while Specimen Gate®, Revvity’s dedicated newborn screening software, provides control and monitoring across the entire screening process, from accession through to result reporting. The autosampler itself holds up to 12 microtiter plates and 6 vial plates at once, a meaningful detail for a national screening lab that cannot afford a sample queue to back up.
Why this matters beyond the lab bench
An expanded newborn panel is a clinical decision with direct consequences for families: several conditions in the new 29-disorder pilot are treatable when caught early through diet, supplementation, or monitoring, but can cause serious, sometimes irreversible harm if diagnosed only after a child becomes symptomatic. Moving from 4 conditions to as many as 33 increases the chances of intervening in the narrow window where intervention can change a child’s outcome.
It’s also a case study in how national screening programs scale methods incrementally rather than all at once. EPPEN isn’t discarding its existing GSP-based immunoassay workflow for PKU, G6PD, congenital hypothyroidism, and galactosemia; it’s layering a new analytical method, mass spectrometry, alongside it to reach conditions that immunoassay methods were never designed to catch. For any lab evaluating how to expand its own newborn or metabolic screening capability, that’s often the more realistic path than a full platform replacement.
What it means for laboratories considering MS/MS-based screening
For laboratories in Greece and the wider region looking at tandem mass spectrometry for newborn or metabolic screening, the practical questions tend to be the same ones EPPEN’s pilot answers in practice: can the system handle the sample volume of a population-wide program without becoming a bottleneck, can it run a broad enough analyte panel to justify the switch from immunoassay methods, and does it integrate with the barcode-tracked, high-traceability workflow a screening lab already depends on. The QSight 225 MD’s plate-based autosampler capacity, automated source switching, and remote diagnostics support are built around exactly those constraints.
At The Science Support, we supply Revvity’s newborn screening instrumentation, including the QSight® 225 MD UHPLC-MS/MS screening system, to laboratories across Greece. Read more about the successful installation of the QSight® 225 MD UHPLC-MS/MS screening system at the laboratory of the EPPEN here.