Diagnostic problems in cystic fibrosis - specific characteristics of a group of infants and young children diagnosed positive through neonatal screening, in whom cystic fibrosis had not been diagnosed.

Abstract excerpt

INTRODUCTION: Neonatal cystic fibrosis screening contributes to an early diagnosis of cystic fibrosis and to implementing appropriate therapeutic management. Long-standing screening tests have made it possible to identify a group of newborns in whom the diagnosis was ambiguous and required further specialised tests. AIM: The aim is to present cases of patients with a positive result of newborn screening for...

Topics

• Child, Preschool
• Chlorides
• Cystic Fibrosis
• Cystic Fibrosis Transmembrane Conductance Regulator
• Early Diagnosis
• Genetic Carrier Screening
• Genetic Testing
• Humans
• Infant
• Infant, Newborn
• Mutation
• Neonatal Screening
• Sweat