Early detection and treatment of inherited metabolic disorders in newborns can lessen the severity of health problems, which could cause mental and physical disabilities or death, if undetected. The window of opportunity to determine if a baby is at risk of a serious or life-threatening condition before symptoms begin is small; therefore, test results for indicators of these disorders must be accurate, comprehensive and timely. To address this challenge, a newborn screening assay is now available in Europe only and is specifically designed for in vitro diagnostic use in conjunction with AB SCIEX mass spectrometry instrumentation for clinical analysis. With the new SCIEX IVD-MS kit for newborn screening, clinical diagnostic laboratories in Europe will be able to analyse panels of amino acids and acylcarnitines simultaneously – rather than one by one, as commonly done in hospitals today – and obtain information about indicators of multiple metabolic disorders from the same sample in a single run. Tandem mass spectrometry makes it possible to detect extremely low concentrations of compounds that can be used to indicate whether a baby is likely to have an inborn metabolic disorder. For example, mass spectrometry can be used to measure the markers for early screening of Phenylketonuria, or PKU. Babies diagnosed with PKU by their physician can be treated with a special diet of limited amounts of phenylalanine (Phe) to avoid build up in the blood and brain, which reportedly leads to mental disability. PKU reportedly occurs in nearly one out of every 10,000 newborns in most of Europe. With an accurate diagnosis, early treatment significantly decreases the severity of symptoms the child will experience as he/she grows up. Another example is the use of mass spectrometry-based newborn screening to find indicators of Medium-chain acyl-Coenzyme Dehydrogenase deficiency (MCAD). Twenty-five percent of children with undetected MCAD die the first time they have an illness. However, if the disorder is detected within days of birth, a treatment as simple as frequent meals and avoidance of fasting would set the child on a path to good health. Studies have shown that MCAD is most common among Caucasians from Northern Europe and includes numbers potentially as high as one out of every 4,900 in Northern Germany. The SCIEX IVDMS kit for amino acid and acylcarnitines in dried blood spots will be a fully validated mass spectrometry method with all the reagents necessary to prepare the sample for MS injection. Using these kits, healthcare professionals will be able to test dried bloodspots from a heel prick on newborns and run the test on an AB SCIEX 3200MD CE-marked IVD system where measurements of the analytes are translated into clinically relevant results, generated with easy-to-use software.
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