Next-generation sequencing expands possibilities for newborn screening
Cristiana Gigina
Pediatric Investigation Feb 4 2026 Every year, millions of newborns undergo routine screening as a preventive strategy to detect inherited disorders before symptoms emerge. Newborn screening (NBS) programs have traditionally relied on biochemical markers to identify specific groups of treatable conditions, achieving remarkable success at a population level. However, as researchers increasingly uncover genetically driven diseases that manifest early in life, questions are emerging about whether
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