The journal focuses on newborn screening (NBS) programs, evaluating their implementation, diagnostic performance, and public health implications. It examines methodologies for detecting various genetic and metabolic disorders, including challenges like false-positive and false-negative results, and explores the integration of new technologies such as genomics and mass spectrometry. The scope also includes the impact of screening on families and the cost-effectiveness of these programs.
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Subject Classification
Web of Science Categories
Genetics & HeredityPediatrics
Research Topics (OpenAlex)
Metabolism and Genetic DisordersNeonatal Health and BiochemistryGenomics and Rare DiseasesCystic Fibrosis Research AdvancesNeonatal Respiratory Health ResearchFolate and B Vitamins ResearchLysosomal Storage Disorders ResearchPrenatal Screening and DiagnosticsNeurogenetic and Muscular Disorders ResearchImmunodeficiency and Autoimmune Disorders