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Int. J. Neonatal Screen. 2019, 5(1), 2; https://doi.org/10.3390/ijns5010002

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

1
Dipartimento di Salute della Donna e del Bambino, Università di Padova, 35128 Padova, Italy
2
Dipartimento di Pediatria, Università di Milano-Bicocca-Fondazione MBBM, San Gerardo Hospital, 20900 Monza, Italy
*
Author to whom correspondence should be addressed.
Received: 30 October 2018 / Revised: 18 December 2018 / Accepted: 19 December 2018 / Published: 21 December 2018
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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 A1 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. View Full-Text
Keywords: sickle cell disease; high performance liquid chromatography (HPLC); β-globin gene sickle cell disease; high performance liquid chromatography (HPLC); β-globin gene
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Martella, M.; Viola, G.; Azzena, S.; Schiavon, S.; Biondi, A.; Basso, G.; Corti, P.; Colombatti, R.; Masera, N.; Sainati, L. Evaluation of Technical Issues in a Pilot Multicenter Newborn Screening Program for Sickle Cell Disease. Int. J. Neonatal Screen. 2019, 5, 2.

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Int. J. Neonatal Screen. EISSN 2409-515X Published by MDPI AG, Basel, Switzerland RSS E-Mail Table of Contents Alert
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