Cargando…

Impact of Pancreatitis-Associated Protein on Newborn Screening Outcomes and Detection of CFTR-Related Metabolic Syndrome (CRMS)/Cystic Fibrosis Screen Positive, Inconclusive Diagnosis (CFSPID): A Monocentric Prospective Pilot Experience

Pancreatitis-Associated Protein (PAP)-based Cystic Fibrosis (CF) newborn bloodspot screening (NBS) protocols detect less CFTR-Related Metabolic Syndrome (CRMS)/CF Screen Positive, Inconclusive Diagnosis (CFSPID). We prospectively evaluated the impact of PAP as the second step of the CF NBS protocol,...

Descripción completa

Detalles Bibliográficos
Autores principales: Bianchimani, Chiara, Dolce, Daniela, Centrone, Claudia, Campana, Silvia, Ravenni, Novella, Orioli, Tommaso, Camera, Erica, Mergni, Gianfranco, Fevola, Cristina, Bonomi, Paolo, Taccetti, Giovanni, Terlizzi, Vito
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9397086/
https://www.ncbi.nlm.nih.gov/pubmed/35997436
http://dx.doi.org/10.3390/ijns8030046
_version_ 1784772060242771968
author Bianchimani, Chiara
Dolce, Daniela
Centrone, Claudia
Campana, Silvia
Ravenni, Novella
Orioli, Tommaso
Camera, Erica
Mergni, Gianfranco
Fevola, Cristina
Bonomi, Paolo
Taccetti, Giovanni
Terlizzi, Vito
author_facet Bianchimani, Chiara
Dolce, Daniela
Centrone, Claudia
Campana, Silvia
Ravenni, Novella
Orioli, Tommaso
Camera, Erica
Mergni, Gianfranco
Fevola, Cristina
Bonomi, Paolo
Taccetti, Giovanni
Terlizzi, Vito
author_sort Bianchimani, Chiara
collection PubMed
description Pancreatitis-Associated Protein (PAP)-based Cystic Fibrosis (CF) newborn bloodspot screening (NBS) protocols detect less CFTR-Related Metabolic Syndrome (CRMS)/CF Screen Positive, Inconclusive Diagnosis (CFSPID). We prospectively evaluated the impact of PAP as the second step of the CF NBS protocol, before the CFTR genetic analysis, on NBS outcomes and CRMS/CFSPID detection in the Tuscany region, Italy. In parallel to the usual protocol (IRT/DNA, protocol 1), PAP was analyzed in IRT-positive infants (IRT/PAP/DNA, protocol 2) from 1 June 2020 until 31 May 2022. We defined an infant as NBS positive if PAP was >1.8 μg/L for IRT value 99th percentile-100 μg/L or >0.6 μg/L for IRT value >100 μg/L. To increase the positive predictive value (PPV) of protocol 2, we retrospectively lowered the upper IRT range value from 100 to 90 μg/L (modified protocol 2). We identified 8 CF and 13 CRMS/CFSPID with protocol 1, 5 CF and 5 CRMS/CFSPID with protocol 2 and 8 CF and 5 CRMS/CFSPID with modified protocol 2. With the PAP-based protocols, we observed a reduction of sweat tests, healthy carrier detection and a significant increase in PPV to 15.38%. Further data are needed in order to evaluate the outcomes of CRMS/CFSPID after a long follow-up.
format Online
Article
Text
id pubmed-9397086
institution National Center for Biotechnology Information
language English
publishDate 2022
publisher MDPI
record_format MEDLINE/PubMed
spelling pubmed-93970862022-08-24 Impact of Pancreatitis-Associated Protein on Newborn Screening Outcomes and Detection of CFTR-Related Metabolic Syndrome (CRMS)/Cystic Fibrosis Screen Positive, Inconclusive Diagnosis (CFSPID): A Monocentric Prospective Pilot Experience Bianchimani, Chiara Dolce, Daniela Centrone, Claudia Campana, Silvia Ravenni, Novella Orioli, Tommaso Camera, Erica Mergni, Gianfranco Fevola, Cristina Bonomi, Paolo Taccetti, Giovanni Terlizzi, Vito Int J Neonatal Screen Article Pancreatitis-Associated Protein (PAP)-based Cystic Fibrosis (CF) newborn bloodspot screening (NBS) protocols detect less CFTR-Related Metabolic Syndrome (CRMS)/CF Screen Positive, Inconclusive Diagnosis (CFSPID). We prospectively evaluated the impact of PAP as the second step of the CF NBS protocol, before the CFTR genetic analysis, on NBS outcomes and CRMS/CFSPID detection in the Tuscany region, Italy. In parallel to the usual protocol (IRT/DNA, protocol 1), PAP was analyzed in IRT-positive infants (IRT/PAP/DNA, protocol 2) from 1 June 2020 until 31 May 2022. We defined an infant as NBS positive if PAP was >1.8 μg/L for IRT value 99th percentile-100 μg/L or >0.6 μg/L for IRT value >100 μg/L. To increase the positive predictive value (PPV) of protocol 2, we retrospectively lowered the upper IRT range value from 100 to 90 μg/L (modified protocol 2). We identified 8 CF and 13 CRMS/CFSPID with protocol 1, 5 CF and 5 CRMS/CFSPID with protocol 2 and 8 CF and 5 CRMS/CFSPID with modified protocol 2. With the PAP-based protocols, we observed a reduction of sweat tests, healthy carrier detection and a significant increase in PPV to 15.38%. Further data are needed in order to evaluate the outcomes of CRMS/CFSPID after a long follow-up. MDPI 2022-08-03 /pmc/articles/PMC9397086/ /pubmed/35997436 http://dx.doi.org/10.3390/ijns8030046 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Bianchimani, Chiara
Dolce, Daniela
Centrone, Claudia
Campana, Silvia
Ravenni, Novella
Orioli, Tommaso
Camera, Erica
Mergni, Gianfranco
Fevola, Cristina
Bonomi, Paolo
Taccetti, Giovanni
Terlizzi, Vito
Impact of Pancreatitis-Associated Protein on Newborn Screening Outcomes and Detection of CFTR-Related Metabolic Syndrome (CRMS)/Cystic Fibrosis Screen Positive, Inconclusive Diagnosis (CFSPID): A Monocentric Prospective Pilot Experience
title Impact of Pancreatitis-Associated Protein on Newborn Screening Outcomes and Detection of CFTR-Related Metabolic Syndrome (CRMS)/Cystic Fibrosis Screen Positive, Inconclusive Diagnosis (CFSPID): A Monocentric Prospective Pilot Experience
title_full Impact of Pancreatitis-Associated Protein on Newborn Screening Outcomes and Detection of CFTR-Related Metabolic Syndrome (CRMS)/Cystic Fibrosis Screen Positive, Inconclusive Diagnosis (CFSPID): A Monocentric Prospective Pilot Experience
title_fullStr Impact of Pancreatitis-Associated Protein on Newborn Screening Outcomes and Detection of CFTR-Related Metabolic Syndrome (CRMS)/Cystic Fibrosis Screen Positive, Inconclusive Diagnosis (CFSPID): A Monocentric Prospective Pilot Experience
title_full_unstemmed Impact of Pancreatitis-Associated Protein on Newborn Screening Outcomes and Detection of CFTR-Related Metabolic Syndrome (CRMS)/Cystic Fibrosis Screen Positive, Inconclusive Diagnosis (CFSPID): A Monocentric Prospective Pilot Experience
title_short Impact of Pancreatitis-Associated Protein on Newborn Screening Outcomes and Detection of CFTR-Related Metabolic Syndrome (CRMS)/Cystic Fibrosis Screen Positive, Inconclusive Diagnosis (CFSPID): A Monocentric Prospective Pilot Experience
title_sort impact of pancreatitis-associated protein on newborn screening outcomes and detection of cftr-related metabolic syndrome (crms)/cystic fibrosis screen positive, inconclusive diagnosis (cfspid): a monocentric prospective pilot experience
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9397086/
https://www.ncbi.nlm.nih.gov/pubmed/35997436
http://dx.doi.org/10.3390/ijns8030046
work_keys_str_mv AT bianchimanichiara impactofpancreatitisassociatedproteinonnewbornscreeningoutcomesanddetectionofcftrrelatedmetabolicsyndromecrmscysticfibrosisscreenpositiveinconclusivediagnosiscfspidamonocentricprospectivepilotexperience
AT dolcedaniela impactofpancreatitisassociatedproteinonnewbornscreeningoutcomesanddetectionofcftrrelatedmetabolicsyndromecrmscysticfibrosisscreenpositiveinconclusivediagnosiscfspidamonocentricprospectivepilotexperience
AT centroneclaudia impactofpancreatitisassociatedproteinonnewbornscreeningoutcomesanddetectionofcftrrelatedmetabolicsyndromecrmscysticfibrosisscreenpositiveinconclusivediagnosiscfspidamonocentricprospectivepilotexperience
AT campanasilvia impactofpancreatitisassociatedproteinonnewbornscreeningoutcomesanddetectionofcftrrelatedmetabolicsyndromecrmscysticfibrosisscreenpositiveinconclusivediagnosiscfspidamonocentricprospectivepilotexperience
AT ravenninovella impactofpancreatitisassociatedproteinonnewbornscreeningoutcomesanddetectionofcftrrelatedmetabolicsyndromecrmscysticfibrosisscreenpositiveinconclusivediagnosiscfspidamonocentricprospectivepilotexperience
AT oriolitommaso impactofpancreatitisassociatedproteinonnewbornscreeningoutcomesanddetectionofcftrrelatedmetabolicsyndromecrmscysticfibrosisscreenpositiveinconclusivediagnosiscfspidamonocentricprospectivepilotexperience
AT cameraerica impactofpancreatitisassociatedproteinonnewbornscreeningoutcomesanddetectionofcftrrelatedmetabolicsyndromecrmscysticfibrosisscreenpositiveinconclusivediagnosiscfspidamonocentricprospectivepilotexperience
AT mergnigianfranco impactofpancreatitisassociatedproteinonnewbornscreeningoutcomesanddetectionofcftrrelatedmetabolicsyndromecrmscysticfibrosisscreenpositiveinconclusivediagnosiscfspidamonocentricprospectivepilotexperience
AT fevolacristina impactofpancreatitisassociatedproteinonnewbornscreeningoutcomesanddetectionofcftrrelatedmetabolicsyndromecrmscysticfibrosisscreenpositiveinconclusivediagnosiscfspidamonocentricprospectivepilotexperience
AT bonomipaolo impactofpancreatitisassociatedproteinonnewbornscreeningoutcomesanddetectionofcftrrelatedmetabolicsyndromecrmscysticfibrosisscreenpositiveinconclusivediagnosiscfspidamonocentricprospectivepilotexperience
AT taccettigiovanni impactofpancreatitisassociatedproteinonnewbornscreeningoutcomesanddetectionofcftrrelatedmetabolicsyndromecrmscysticfibrosisscreenpositiveinconclusivediagnosiscfspidamonocentricprospectivepilotexperience
AT terlizzivito impactofpancreatitisassociatedproteinonnewbornscreeningoutcomesanddetectionofcftrrelatedmetabolicsyndromecrmscysticfibrosisscreenpositiveinconclusivediagnosiscfspidamonocentricprospectivepilotexperience