Inconclusive diagnosis after a positive newborn bloodspot screening result for cystic fibrosis; clarification of the harmonised international definition
Newborn bloodspot screening (NBS) for cystic fibrosis (CF) has been a successful public health strategy.
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Occasionally a positive NBS result is associated with an inconclusive diagnosis.
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Infants in this situation may be mislabelled.
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Accurate designation of infants after NBS for CF is important to ensure appropriate management.
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In some cases, the diagnosis remains inconclusive and the international designation, Cystic Fibrosis Transmembrane Conductance Regulator-Related Metabolic Syndrome/CF Screen Positive, Inconclusive Diagnosis (CRMS/CFSPID), should be used.