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Evaluation of Technical Issues in a Pilot Multicenter Newborn Screening Program for Sickle Cell Disease

A multicenter pilot program for universal newborn screening of Sickle cell disease (SCD) was conducted in two centres of Northern Italy (Padova and Monza). High Performance Liquid Chromatography (HPLC) was performed as the first test on samples collected on Guthrie cards and molecular analysis of th...

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Autores principales: Martella, Maddalena, Viola, Giampietro, Azzena, Silvia, Schiavon, Sara, Biondi, Andrea, Basso, Giuseppe, Corti, Paola, Colombatti, Raffaella, Masera, Nicoletta, Sainati, Laura
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7510190/
https://www.ncbi.nlm.nih.gov/pubmed/33072962
http://dx.doi.org/10.3390/ijns5010002
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author Martella, Maddalena
Viola, Giampietro
Azzena, Silvia
Schiavon, Sara
Biondi, Andrea
Basso, Giuseppe
Corti, Paola
Colombatti, Raffaella
Masera, Nicoletta
Sainati, Laura
author_facet Martella, Maddalena
Viola, Giampietro
Azzena, Silvia
Schiavon, Sara
Biondi, Andrea
Basso, Giuseppe
Corti, Paola
Colombatti, Raffaella
Masera, Nicoletta
Sainati, Laura
author_sort Martella, Maddalena
collection PubMed
description A multicenter pilot program for universal newborn screening of Sickle cell disease (SCD) was conducted in two centres of Northern Italy (Padova and Monza). High Performance Liquid Chromatography (HPLC) was performed as the first test on samples collected on Guthrie cards and molecular analysis of the β-globin gene (HBB) was the confirmatory test performed on the HPLC-positive or indeterminate samples. 5466 samples of newborns were evaluated. Of these, 5439/5466 were submitted to HPLC analysis and the molecular analysis always confirmed in all the alteration detected in HPLC (62/5439 newborns); 4/5439 (0.07%) were SCD affected, 37/5439 (0.68%) were HbAS carriers and 21/5439 (0.40%) showed other hemoglobinopathies. Stored dried blood spots were adequate for HPLC and β-globin gene molecular analysis. Samples were suitable for analysis until sixteen months old. A cut-off of A(1) percentage, in order to avoid false negative or unnecessary confirmation tests, was identified. Our experience showed that several technical issues need to be addressed and resolved while developing a multicenter NBS program for SCD in a country where there is no national neonatal screening (NBS) program for SCD and NBS programs occur on a regional basis.
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spelling pubmed-75101902020-10-15 Evaluation of Technical Issues in a Pilot Multicenter Newborn Screening Program for Sickle Cell Disease Martella, Maddalena Viola, Giampietro Azzena, Silvia Schiavon, Sara Biondi, Andrea Basso, Giuseppe Corti, Paola Colombatti, Raffaella Masera, Nicoletta Sainati, Laura Int J Neonatal Screen Article A multicenter pilot program for universal newborn screening of Sickle cell disease (SCD) was conducted in two centres of Northern Italy (Padova and Monza). High Performance Liquid Chromatography (HPLC) was performed as the first test on samples collected on Guthrie cards and molecular analysis of the β-globin gene (HBB) was the confirmatory test performed on the HPLC-positive or indeterminate samples. 5466 samples of newborns were evaluated. Of these, 5439/5466 were submitted to HPLC analysis and the molecular analysis always confirmed in all the alteration detected in HPLC (62/5439 newborns); 4/5439 (0.07%) were SCD affected, 37/5439 (0.68%) were HbAS carriers and 21/5439 (0.40%) showed other hemoglobinopathies. Stored dried blood spots were adequate for HPLC and β-globin gene molecular analysis. Samples were suitable for analysis until sixteen months old. A cut-off of A(1) percentage, in order to avoid false negative or unnecessary confirmation tests, was identified. Our experience showed that several technical issues need to be addressed and resolved while developing a multicenter NBS program for SCD in a country where there is no national neonatal screening (NBS) program for SCD and NBS programs occur on a regional basis. MDPI 2018-12-21 /pmc/articles/PMC7510190/ /pubmed/33072962 http://dx.doi.org/10.3390/ijns5010002 Text en © 2018 by the authors. 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 (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Martella, Maddalena
Viola, Giampietro
Azzena, Silvia
Schiavon, Sara
Biondi, Andrea
Basso, Giuseppe
Corti, Paola
Colombatti, Raffaella
Masera, Nicoletta
Sainati, Laura
Evaluation of Technical Issues in a Pilot Multicenter Newborn Screening Program for Sickle Cell Disease
title Evaluation of Technical Issues in a Pilot Multicenter Newborn Screening Program for Sickle Cell Disease
title_full Evaluation of Technical Issues in a Pilot Multicenter Newborn Screening Program for Sickle Cell Disease
title_fullStr Evaluation of Technical Issues in a Pilot Multicenter Newborn Screening Program for Sickle Cell Disease
title_full_unstemmed Evaluation of Technical Issues in a Pilot Multicenter Newborn Screening Program for Sickle Cell Disease
title_short Evaluation of Technical Issues in a Pilot Multicenter Newborn Screening Program for Sickle Cell Disease
title_sort evaluation of technical issues in a pilot multicenter newborn screening program for sickle cell disease
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7510190/
https://www.ncbi.nlm.nih.gov/pubmed/33072962
http://dx.doi.org/10.3390/ijns5010002
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