Evaluation of technical issues in a pilot multicenter newborn screening program for sickle cell disease

Maddalena Martella; Giampietro Viola; Silvia Azzena; Sara Schiavon; Andrea Biondi; Giuseppe Basso; Paola Corti; Raffaella Colombatti; Nicoletta Masera; Laura Sainati

doi:10.3390/ijns5010002

Evaluation of technical issues in a pilot multicenter newborn screening program for sickle cell disease

Maddalena Martella, Giampietro Viola, Silvia Azzena, Sara Schiavon, Andrea Biondi, Giuseppe Basso, Paola Corti, Raffaella Colombatti, Nicoletta Masera, Laura Sainati

Research output: Contribution to journal › Article › peer-review

3 Scopus citations

Abstract

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.

Original language	English
Article number	2
Journal	International Journal of Neonatal Screening
Volume	5
Issue number	1
DOIs	https://doi.org/10.3390/ijns5010002
State	Published - 2019
Externally published	Yes

Keywords

High performance liquid chromatography (HPLC)
Sickle cell disease
β-globin gene

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title = "Evaluation of technical issues in a pilot multicenter newborn screening program for sickle cell disease",

abstract = " 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.",

keywords = "High performance liquid chromatography (HPLC), Sickle cell disease, β-globin gene",

author = "Maddalena Martella and Giampietro Viola and Silvia Azzena and Sara Schiavon and Andrea Biondi and Giuseppe Basso and Paola Corti and Raffaella Colombatti and Nicoletta Masera and Laura Sainati",

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AU - Martella, Maddalena

AU - Viola, Giampietro

AU - Azzena, Silvia

AU - Schiavon, Sara

AU - Biondi, Andrea

AU - Basso, Giuseppe

AU - Corti, Paola

AU - Colombatti, Raffaella

AU - Masera, Nicoletta

AU - Sainati, Laura

PY - 2019

Y1 - 2019

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AB - 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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Evaluation of technical issues in a pilot multicenter newborn screening program for sickle cell disease

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Keywords

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