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International Journal of Neonatal Screening
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International Journal of Neonatal Screening, Volume 11, Issue 4

2025 December - 33 articles

Cover Story: Newborn screening (NBS) has been a cornerstone of public health since the 1960s, saving thousands of children from severe disability or early death by detecting disorders early. Traditionally, NBS relies on biochemical markers, but many treatable rare diseases lack measurable biomarkers and remain unscreened. Genomic technologies offer a way to expand NBS beyond biochemical limitations. The BabyDetect project aimed to validate a targeted next-generation sequencing workflow for NBS, focusing on treatable, early-onset conditions. BabyDetect showed that genomic NBS can reliably detect pathogenic variants in diseases not covered by biochemical screening. With automation, quality control, and variant interpretation, genomic NBS is poised to complement and expand existing programs, addressing critical gaps in early detection and treatment. View this paper
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Int. J. Neonatal Screen. - ISSN 2409-515X
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