Development of analytical device for newborn screening using dried matrix spot and paper spray mass spectrometry

• Grant number: 20/07195-5
• Support Opportunities: Scholarships in Brazil - Post-Doctoral
• Start date: February 01, 2021
• End date: October 18, 2023
• Field of knowledge: Physical Sciences and Mathematics - Chemistry - Analytical Chemistry
• Principal Investigator: Emanuel Carrilho
• Grantee: Eduardo Luiz Rossini
• Host Institution: Instituto de Química de São Carlos (IQSC). Universidade de São Paulo (USP). São Carlos , SP, Brazil
• Associated research grant: 14/50867-3 - INCT 2014: National Institute of Science and Technology in Bioanalysis, AP.TEM

Abstract

Newborn screening is considerate one of the biggest advances in preventive medicine and one of the largest public health campaigns. The early diagnostic of diseases, even for the rare ones, can reduce or eliminate irreversible sequels that could occur if they were not detected prematurely. A group of diseases that is analyzed in newborn screening is the aminoacidopathies that are metabolic disorders caused by a metabolic defect due to certain deficiency in determined enzymes or transporters, such as phenylketonuria, leucinosis (maple syrup urine disease) and tyrosinemia type II. Dried blood spot (DBS) is the most common sampling method for newborn screening. DBS is a dried matrix spot (DMS) microsampling method in which a little blood sample is placed in a filter paper resulting in the formation of a spot. It is a simple and easy to use sampling method that reduces the risk of contamination for the operator and facilitates the transportation and storage. However, chromatographic techniques with mass spectrometry detection are frequently employed, but they include several steps, are time consuming and use large amounts of solvents. That is why the present project proposes the development of a method that links the advantages of paper platform, creating a microfluidic analytical device, and the reliability of mass spectrometric using paper spray ionization, that simplify the analytical procedure, allowing simple, direct, fast, low cost analysis and without time-consuming and laborious steps to detect aminoacidopathies in newborn screening.