Introduction: The Newborn Metabolic Screen is a special test used to test baby for certain serious medical conditions. The goal of the screen is to identify babies who have these disorders before they ever get sick, and to help them get treatment as soon as possible.
Liquid chromatography-tandem mass spectrometry (LC–MS/MS) has greatly increased the screening possibilities by monitoring levels of amino acids and acylcarnitines.
Measuring different amino acids and acylcarnitines can be used to detect up to 45 different inherited disorders depending on how diseases are counted
Methods: The Newborn Metabolic Screen is performed by pricking your baby’s heel and putting a few drops of blood onto special filter paper. The filter paper is allowed to dry and is then sent to the State Health Department. The blood is analyzed by the lab to identify babies who are at higher risk to have a medical condition. If the screen indicates the baby might have a medical problem, a member of the newborn screening follow-up unit will call baby’s doctor with the results. If we cannot identify the baby’s doctor, we may call parents directly to get this information
Results: Newborn screening with LC–MS/MS , now allows physicians to diagnose a disease even before a single clinical symptom is noted, allowing for better treatment planning and better outcomes.
Conclusion: Newborn screening has been considerably changed and expanded by the availability of LC–MS/MS technology. As new methods have been developed new challenges have been revealed, regarding which diseases to screen for, how to confirm diagnoses quickly and accurately and how to follow up on patients identified through the program.