0000000000959344

AUTHOR

Jean-marc Périni

0000-0002-4233-6288

showing 1 related works from this author

A Multicentre Pilot Study of a Two-Tier Newborn Sickle Cell Disease Screening Procedure with a First Tier Based on a Fully Automated MALDI-TOF MS Pla…

2019

The reference methods used for sickle cell disease (SCD) screening usually include two analytical steps: a first tier for differentiating haemoglobin S (HbS) heterozygotes, HbS homozygotes and β-thalassemia from other samples, and a confirmatory second tier. Here, we evaluated a first-tier approach based on a fully automated matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS) platform with automated sample processing, a laboratory information management system and NeoSickle® software for automatic data interpretation. A total of 6701 samples (with high proportions of phenotypes homozygous (FS) or heterozygous (FAS) for the inherited genes for sickle h…

MALDI-TOFPediatricsmedicine.medical_specialtythalassemia[SDV]Life Sciences [q-bio]Sample (statistics)01 natural sciencesArticle03 medical and health sciencesImmunology and Microbiology (miscellaneous)preventionmedicineDisease Screening Procedure030304 developmental biologymass spectrometry0303 health sciencesNewborn screeningbusiness.industryMALDI-TOF; sickle cell disease; newborn screening; mass spectrometry; thalassemia; preventionnewborn screening010401 analytical chemistrylcsh:RJ1-570Obstetrics and GynecologyData interpretationlcsh:Pediatrics0104 chemical sciencesMatrix-assisted laser desorption/ionizationFully automatedSickle haemoglobinPediatrics Perinatology and Child Healthsickle cell diseaseSample collectionbusinessInternational Journal of Neonatal Screening
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