Universidade de Aveiro, DETI / IEETA
3810-193 Aveiro, Portugal
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NeoScreen is a bioinformatics software that helps diagnosis tasks in newborn screening programs. The application imports MS/MS raw data, and organizes and maintains all the information along the time in a database, providing a set of patterns that allow the detection of abnormalities in the blood samples. Is is been used, from 2005, to support the Portuguese Newborn Screning Program (http://www.diagnosticoprecoce.org/)
NeoScreen – Newborn screening analysis
The introduction of the Tandem Mass Spectrometry (MS/MS) in neonatal screening laboratories has opened the way to innovative newborn screening analysis. With this technology the number of metabolic disorders that can be detected, from dried blood-spot species, increases significantly. However, the amount of information obtained with this technique and the pressure for quick and accurate diagnostics raises serious difficulties in the daily data analysis. To face this challenge we developed a software system, NeoScreen, which simplifies and allow speeding up newborn screening diagnostics.
In this view, the individuals are separated in several diagnostic categories, such as “very suspicious”, “suspicious”, “not suspicious”, etc. Some of these categories represent individuals with markers out of the established limits, but that are not associated with any known disease. In the right-side frame it is displayed the relevant information that was extracted and processed by the software for each individual, like: plate information, markers concentrations, and suspicious diseases.