A survey of the prevalence, management and outcome of infants with an inconclusive diagnosis following newborn bloodspot screening for cystic fibrosis (CRMS/CFSPID) in six Italian centres

Many countries and regions across the globe now include cystic fibrosis (CF) in the panel of newborn bloodspot screening (NBS) conditions and this strategy has facilitated the early identification and management of infants with CF [1-3]. A less satisfactory outcome from NBS for CF has been the recognition of infants with a positive NBS result but an inconclusive diagnosis [4,5]. These healthy infants are designated as CF Transmembrane Conductance Regulator (CFTR)-related Metabolic Syndrome/CF, Screen Positive, Inconclusive Diagnosis (CRMS/CFSPID).

Source: Journal of Cystic Fibrosis - April 18, 2021 Category: Respiratory Medicine Authors: Vito Terlizzi, Laura Claut, Antonella Tosco, Carla Colombo, Valeria Raia, Benedetta Fabrizzi, Marco Lucarelli, Antonio Angeloni, Giuseppe Cimino, Alice Castaldo, Laura Marsiglio, Silviana Timpano, Natalia Cirilli, Laura Moroni, Filippo Festini, Pietro Pic Tags: Original Article Source Type: research