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

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Terlizzi, Vito, Claut, Laura, Tosco, Antonella, Colombo, Carla, Raia, Valeria, Fabrizzi, Benedetta, Lucarelli, Marco, Angeloni, Antonio, Cimino, Giuseppe, Castaldo, Alice et al (show 11 more authors) (2021) 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. JOURNAL OF CYSTIC FIBROSIS, 20 (5). pp. 828-834.

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Official URL: http://dx.doi.org/10.1016/j.jcf.2021.03.015

Abstract

<h4>Objective</h4>We evaluated the prevalence, Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene profile, clinical data, management and outcome for infants with a CFTR-related metabolic syndrome/CF Screen Positive, Inconclusive Diagnosis (CRMS/CFSPID) designation from six Italian centres.<h4>Methods</h4>All newborn bloodspot screening (NBS) positive infants born from January 2011 to August 2018 with a CF diagnosis or a CRMS/CFSPID designation were enrolled. Data on sweat testing, genetics, clinical course and management were collected.<h4>Results</h4>We enrolled 257 CF patientsand 336 infants with a CRMS/CFSPID designation (CF: CRMS/CFSPID ratio of 1:1.30).Blood immuno-reactive trypsinogen (IRT) was significantly lower in CRMS/CFSPID infants and the F508del variant accounted for only 20% of alleles. Children with CRMS/CFSPID showed a milder clinical course, pancreatic sufficiency compared to CF infants. Varied practice across centres was identified regarding sweat testing, chest radiograph (8-100%) and salt supplementation (11-90%). Eighteen (5.3%) CRMS/CFSPID infants converted or were reclassified to diagnosis of CF. Four infants (1.3%) developed a clinical feature consistent with a CFTR-related disorder (1.2%). Twenty-seven were re-classified as healthy carriers (8.0%) and 16 as healthy infants (4.8%).<h4>Conclusions</h4>We have identified considerable variability in the evaluation and management of infants with an inconclusive diagnosis following NBS across six Italian centres. CRMS/CFSPID is more regularly seen in this population compared to countries with higher prevalence of F508del.Conversion to a CF diagnosis was recorded in 18 (5.3%) of CRMS/CFSPID infants and in 16 was as a result of increasing sweat chloride concentration.

Item Type:	Article
Uncontrolled Keywords:	Humans, Cystic Fibrosis, Cystic Fibrosis Transmembrane Conductance Regulator, Diagnosis, Differential, Neonatal Screening, Prevalence, Child, Preschool, Infant, Infant, Newborn, Italy, Female, Male, Surveys and Questionnaires, Metabolic Syndrome
Divisions:	Faculty of Health and Life Sciences Faculty of Health and Life Sciences > Institute of Life Courses and Medical Sciences
Depositing User:	Symplectic Admin
Date Deposited:	12 May 2021 10:09
Last Modified:	04 Jul 2023 14:48
DOI:	10.1016/j.jcf.2021.03.015
Related URLs:	Author Publisher
URI:	https://livrepository.liverpool.ac.uk/id/eprint/3122449