A Multicentre Pilot Study of a Two-Tier Newborn Sickle Cell Disease Screening Procedure with a First Tier Based on a Fully Automated MALDI-TOF MS Platform
The reference methods used for sickle cell disease (SCD) screening usually include two analytical steps: a first tier for differentiating haemoglobin S (HbS) heterozygotes, HbS homozygotes and β-thalassemia from other samples, and a confirmatory second tier. Here, we evaluated a first-tier approach...
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| Format: | Article |
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MDPI AG
2019-01-01
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| Series: | International Journal of Neonatal Screening |
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| Online Access: | https://www.mdpi.com/2409-515X/5/1/10 |
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| author | Pierre Naubourg Marven El Osta David Rageot Olivier Grunewald Gilles Renom Patrick Ducoroy Jean-Marc Périni |
| author_facet | Pierre Naubourg Marven El Osta David Rageot Olivier Grunewald Gilles Renom Patrick Ducoroy Jean-Marc Périni |
| author_sort | Pierre Naubourg |
| collection | DOAJ |
| description | The reference methods used for sickle cell disease (SCD) screening usually include two analytical steps: a first tier for differentiating haemoglobin S (HbS) heterozygotes, HbS homozygotes and β-thalassemia from other samples, and a confirmatory second tier. Here, we evaluated a first-tier approach based on a fully automated matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS) platform with automated sample processing, a laboratory information management system and NeoSickle<sup>®</sup> software for automatic data interpretation. A total of 6701 samples (with high proportions of phenotypes homozygous (FS) or heterozygous (FAS) for the inherited genes for sickle haemoglobin and samples from premature newborns) were screened. The NeoSickle<sup>®</sup> software correctly classified 98.8% of the samples. This specific blood sample collection was enriched in qualified difficult samples (premature newborns, FAS samples, late and very late samples, etc.). In this study, the sensitivity of FS sample detection was found to be 100% on the Lille MS facility and 99% on the Dijon MS facility, and the specificity of FS sample detection was found to be 100% on both MS facilities. The MALDI-MS platform appears to be a robust solution for first-tier use to detect the HbS variant: it is reproducible and sensitive, it has the power to analyze 600–1000 samples per day and it can reduce the unit cost of testing thanks to maximal automation, minimal intervention by the medical team and good overall practicability. The MALDI-MS approach meets today’s criteria for the large-scale, cost-effective screening of newborns, children and adults. |
| first_indexed | 2024-12-21T17:05:20Z |
| format | Article |
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| institution | Directory Open Access Journal |
| issn | 2409-515X |
| language | English |
| last_indexed | 2024-12-21T17:05:20Z |
| publishDate | 2019-01-01 |
| publisher | MDPI AG |
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| series | International Journal of Neonatal Screening |
| spelling | doaj.art-9c6c76fce4d042b58db69144cabf606f2022-12-21T18:56:33ZengMDPI AGInternational Journal of Neonatal Screening2409-515X2019-01-01511010.3390/ijns5010010ijns5010010A Multicentre Pilot Study of a Two-Tier Newborn Sickle Cell Disease Screening Procedure with a First Tier Based on a Fully Automated MALDI-TOF MS PlatformPierre Naubourg0Marven El Osta1David Rageot2Olivier Grunewald3Gilles Renom4Patrick Ducoroy5Jean-Marc Périni6Biomaneo, 22B boulevard Winston Churchill, F-21000 Dijon, FranceBiomaneo, 22B boulevard Winston Churchill, F-21000 Dijon, FranceCLIPP, Clinical Innovation Proteomic Platform, Université de Bourgogne Franche Comté, F-21000 Dijon, FranceNewborn Screening Laboratory, Biology and Pathology Center, Lille University Medical Centre, F-59000 Lille, FranceNewborn Screening Laboratory, Biology and Pathology Center, Lille University Medical Centre, F-59000 Lille, FranceBiomaneo, 22B boulevard Winston Churchill, F-21000 Dijon, FranceNewborn Screening Laboratory, Biology and Pathology Center, Lille University Medical Centre, F-59000 Lille, FranceThe reference methods used for sickle cell disease (SCD) screening usually include two analytical steps: a first tier for differentiating haemoglobin S (HbS) heterozygotes, HbS homozygotes and β-thalassemia from other samples, and a confirmatory second tier. Here, we evaluated a first-tier approach based on a fully automated matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS) platform with automated sample processing, a laboratory information management system and NeoSickle<sup>®</sup> software for automatic data interpretation. A total of 6701 samples (with high proportions of phenotypes homozygous (FS) or heterozygous (FAS) for the inherited genes for sickle haemoglobin and samples from premature newborns) were screened. The NeoSickle<sup>®</sup> software correctly classified 98.8% of the samples. This specific blood sample collection was enriched in qualified difficult samples (premature newborns, FAS samples, late and very late samples, etc.). In this study, the sensitivity of FS sample detection was found to be 100% on the Lille MS facility and 99% on the Dijon MS facility, and the specificity of FS sample detection was found to be 100% on both MS facilities. The MALDI-MS platform appears to be a robust solution for first-tier use to detect the HbS variant: it is reproducible and sensitive, it has the power to analyze 600–1000 samples per day and it can reduce the unit cost of testing thanks to maximal automation, minimal intervention by the medical team and good overall practicability. The MALDI-MS approach meets today’s criteria for the large-scale, cost-effective screening of newborns, children and adults.https://www.mdpi.com/2409-515X/5/1/10newborn screeningsickle cell diseaseMALDI-TOFmass spectrometrythalassemiaprevention |
| spellingShingle | Pierre Naubourg Marven El Osta David Rageot Olivier Grunewald Gilles Renom Patrick Ducoroy Jean-Marc Périni A Multicentre Pilot Study of a Two-Tier Newborn Sickle Cell Disease Screening Procedure with a First Tier Based on a Fully Automated MALDI-TOF MS Platform International Journal of Neonatal Screening newborn screening sickle cell disease MALDI-TOF mass spectrometry thalassemia prevention |
| title | A Multicentre Pilot Study of a Two-Tier Newborn Sickle Cell Disease Screening Procedure with a First Tier Based on a Fully Automated MALDI-TOF MS Platform |
| title_full | A Multicentre Pilot Study of a Two-Tier Newborn Sickle Cell Disease Screening Procedure with a First Tier Based on a Fully Automated MALDI-TOF MS Platform |
| title_fullStr | A Multicentre Pilot Study of a Two-Tier Newborn Sickle Cell Disease Screening Procedure with a First Tier Based on a Fully Automated MALDI-TOF MS Platform |
| title_full_unstemmed | A Multicentre Pilot Study of a Two-Tier Newborn Sickle Cell Disease Screening Procedure with a First Tier Based on a Fully Automated MALDI-TOF MS Platform |
| title_short | A Multicentre Pilot Study of a Two-Tier Newborn Sickle Cell Disease Screening Procedure with a First Tier Based on a Fully Automated MALDI-TOF MS Platform |
| title_sort | multicentre pilot study of a two tier newborn sickle cell disease screening procedure with a first tier based on a fully automated maldi tof ms platform |
| topic | newborn screening sickle cell disease MALDI-TOF mass spectrometry thalassemia prevention |
| url | https://www.mdpi.com/2409-515X/5/1/10 |
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