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As part of the pulse oximetry screening initiative these midwives were provided with training and information resources that may enable them to recognise the signs and symptoms of an underlying cardiac defect. Several studies have shown that raising awareness can enable the early detection of ...
However, biochemical test modalities and enzyme analyses remain vital to identify, characterize, individualize and even stop treatment. After reporting a positive screening based on sequencing results, the utility of and requirement for parental segregation testing need to be emphasized, allowing for the...