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Abstract

The journey of neonatal screening, from the simple heel prick to life-saving interventions, represents a transformative advancement in newborn healthcare. This process involves the early detection of genetic, metabolic, and endocrine disorders, many of which may not present symptoms at birth but can lead to severe developmental issues or even death if left untreated. The heel prick test, typically performed within the first 48 hours of life, is the cornerstone of neonatal screening, allowing for the collection of a blood sample that can be analyzed for a variety of conditions. Over time, advances in screening technology, such as tandem mass spectrometry and genetic testing, have expanded the range of detectable disorders, enabling more comprehensive early diagnoses. This has dramatically improved infant health outcomes, preventing irreversible damage through early interventions such as specialized diets, medications, or surgeries. Despite the success of neonatal screening programs globally, challenges such as cost, accessibility, and ethical concerns remain. This paper explores the evolution of neonatal screening, its impact on public health, and the ongoing efforts to ensure equitable access and the ethical handling of sensitive diagnostic information. Through this journey, neonatal screening continues to save lives, offering hope and better futures for infants worldwide.