The objective of newborn screening (NBS) is the identification of serious and/or rare conditions that can affect a newborn’s future health and survival.
Many of these conditions – e.g. inborn errors of metabolism, endocrine diseases, haemoglobinopathies, spinal muscular atrophy, congenital heart disease and hearing loss – may not have clinically-detectable features at birth, thus hampering early detection that is vital for effective treatment and better outcomes.
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