MALDI-TOF MS profiling as the first-tier screen for sickle cell disease in neonates: Matching throughput to objectives
Purpose: Universal newborn screening for sickle cell diseases (SCDs) is not currently performed in many countries concerned by this public health problem. Owing to the technical and financial limitations of standard profiling methods (IEF coupled to subsequent HPLC), ethnically targeted neonatal scr...
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| Veröffentlicht in: | Proteomics. Clinical applications 2011-08, Vol.5 (7-8), p.405-414 |
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| creator | Hachani, Johan Duban-Deweer, Sophie Pottiez, Gwënaël Renom, Gilles Flahaut, Christophe Périni, Jean-Marc |
| description | Purpose: Universal newborn screening for sickle cell diseases (SCDs) is not currently performed in many countries concerned by this public health problem. Owing to the technical and financial limitations of standard profiling methods (IEF coupled to subsequent HPLC), ethnically targeted neonatal screening is often preferred. Here, we demonstrate that MALDI‐MS‐based SCD newborn screening could be considered as a potential method for a strategy to universal screening because of its high throughput, cost‐effectiveness, sensitivity and ability to automatically discriminate sickle haemoglobin.
Experimental design: We carried out a retrospective study of dried blood spots from 844 Guthrie cards. Four determinations of 1000 mass spectra were performed from each tested dried blood spot.
Results: The MALDI‐MS‐based screening was highly correlated with the reference method. Only 2.3% of the samples presented a poor spectral quality.
Conclusions and clinical relevance: Given that the overall acquisition, data reprocessing and software‐assisted classification (ClinProTools™) time for processing four mass determinations (corresponding to one sample) was around 1 min, 1000 samples can be analysed per day. Rather than seeking to detect as many different haemoglobinopathies as possible, it would become possible to use MALDI‐TOF‐MS to screen (at a constant cost) as many samples as possible for sickle cell disease. |
| doi_str_mv | 10.1002/prca.201000093 |
| format | Article |
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Experimental design: We carried out a retrospective study of dried blood spots from 844 Guthrie cards. Four determinations of 1000 mass spectra were performed from each tested dried blood spot.
Results: The MALDI‐MS‐based screening was highly correlated with the reference method. Only 2.3% of the samples presented a poor spectral quality.
Conclusions and clinical relevance: Given that the overall acquisition, data reprocessing and software‐assisted classification (ClinProTools™) time for processing four mass determinations (corresponding to one sample) was around 1 min, 1000 samples can be analysed per day. Rather than seeking to detect as many different haemoglobinopathies as possible, it would become possible to use MALDI‐TOF‐MS to screen (at a constant cost) as many samples as possible for sickle cell disease.</description><identifier>ISSN: 1862-8346</identifier><identifier>EISSN: 1862-8354</identifier><identifier>DOI: 10.1002/prca.201000093</identifier><identifier>PMID: 21751410</identifier><language>eng</language><publisher>Weinheim: WILEY-VCH Verlag</publisher><subject>Anemia, Sickle Cell - diagnosis ; Anemia, Sickle Cell - economics ; Anemia, Sickle Cell - pathology ; Anemias. Hemoglobinopathies ; Biological and medical sciences ; Case-Control Studies ; Cost-Benefit Analysis ; Diseases of red blood cells ; Diverse techniques ; Female ; Fundamental and applied biological sciences. Psychology ; Hematologic and hematopoietic diseases ; Hemoglobin, Sickle - analysis ; High-Throughput Screening Assays - economics ; High-Throughput Screening Assays - methods ; Humans ; Infant, Newborn ; Male ; Medical sciences ; Medical screening ; Molecular and cellular biology ; Neonatal screening ; Neonatal Screening - economics ; Neonatal Screening - methods ; Objectives ; Public Health ; Quality Control ; Retrospective Studies ; Sensitivity and Specificity ; Sickle cell anemia ; Sickle cell disease ; Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization - economics ; Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization - methods ; Thalassaemia</subject><ispartof>Proteomics. Clinical applications, 2011-08, Vol.5 (7-8), p.405-414</ispartof><rights>Copyright © 2011 WILEY‐VCH Verlag GmbH & Co. KGaA, Weinheim</rights><rights>2015 INIST-CNRS</rights><rights>Copyright © 2011 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.</rights><rights>Copyright © 2011 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4723-7e3de68e8646d98aa0209e7fbc818f089004b787235fc24c03129cff67b2c2c43</citedby><cites>FETCH-LOGICAL-c4723-7e3de68e8646d98aa0209e7fbc818f089004b787235fc24c03129cff67b2c2c43</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1002%2Fprca.201000093$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fprca.201000093$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,780,784,1417,27924,27925,45574,45575</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=24421150$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/21751410$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Hachani, Johan</creatorcontrib><creatorcontrib>Duban-Deweer, Sophie</creatorcontrib><creatorcontrib>Pottiez, Gwënaël</creatorcontrib><creatorcontrib>Renom, Gilles</creatorcontrib><creatorcontrib>Flahaut, Christophe</creatorcontrib><creatorcontrib>Périni, Jean-Marc</creatorcontrib><title>MALDI-TOF MS profiling as the first-tier screen for sickle cell disease in neonates: Matching throughput to objectives</title><title>Proteomics. Clinical applications</title><addtitle>Prot. Clin. Appl</addtitle><description>Purpose: Universal newborn screening for sickle cell diseases (SCDs) is not currently performed in many countries concerned by this public health problem. Owing to the technical and financial limitations of standard profiling methods (IEF coupled to subsequent HPLC), ethnically targeted neonatal screening is often preferred. Here, we demonstrate that MALDI‐MS‐based SCD newborn screening could be considered as a potential method for a strategy to universal screening because of its high throughput, cost‐effectiveness, sensitivity and ability to automatically discriminate sickle haemoglobin.
Experimental design: We carried out a retrospective study of dried blood spots from 844 Guthrie cards. Four determinations of 1000 mass spectra were performed from each tested dried blood spot.
Results: The MALDI‐MS‐based screening was highly correlated with the reference method. Only 2.3% of the samples presented a poor spectral quality.
Conclusions and clinical relevance: Given that the overall acquisition, data reprocessing and software‐assisted classification (ClinProTools™) time for processing four mass determinations (corresponding to one sample) was around 1 min, 1000 samples can be analysed per day. Rather than seeking to detect as many different haemoglobinopathies as possible, it would become possible to use MALDI‐TOF‐MS to screen (at a constant cost) as many samples as possible for sickle cell disease.</description><subject>Anemia, Sickle Cell - diagnosis</subject><subject>Anemia, Sickle Cell - economics</subject><subject>Anemia, Sickle Cell - pathology</subject><subject>Anemias. Hemoglobinopathies</subject><subject>Biological and medical sciences</subject><subject>Case-Control Studies</subject><subject>Cost-Benefit Analysis</subject><subject>Diseases of red blood cells</subject><subject>Diverse techniques</subject><subject>Female</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>Hematologic and hematopoietic diseases</subject><subject>Hemoglobin, Sickle - analysis</subject><subject>High-Throughput Screening Assays - economics</subject><subject>High-Throughput Screening Assays - methods</subject><subject>Humans</subject><subject>Infant, Newborn</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Medical screening</subject><subject>Molecular and cellular biology</subject><subject>Neonatal screening</subject><subject>Neonatal Screening - economics</subject><subject>Neonatal Screening - methods</subject><subject>Objectives</subject><subject>Public Health</subject><subject>Quality Control</subject><subject>Retrospective Studies</subject><subject>Sensitivity and Specificity</subject><subject>Sickle cell anemia</subject><subject>Sickle cell disease</subject><subject>Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization - economics</subject><subject>Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization - methods</subject><subject>Thalassaemia</subject><issn>1862-8346</issn><issn>1862-8354</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2011</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkc1vEzEQxVcIREvLlSOyhFBPG_y1ay-3KG1KpSQtUMTR8jrjxulmN9jeQv97vEoIiEtPnsPvPb-Zl2VvCB4RjOmHrTd6RHGaMa7Ys-yYyJLmkhX8-WHm5VH2KoQ1xgWnAr_MjigRBeEEH2cP8_Hs_Cq_vZ6i-Ve09Z11jWvvkA4orgBZ50PMowOPgvEALbJdGp25bwAZaBq0dAF0AORa1ELX6gjhI5rraFaDTVz5rr9bbfuIYoe6eg0mugcIp9kLq5sAr_fvSfZtenE7-ZTPri-vJuNZbrigLBfAllBKkCUvl5XUGlNcgbC1kURaLCuMeS1kQgtrKDeYEVoZa0tRU0MNZyfZ2c43bfajhxDVxoUht05h-6AqLIhgw-meIqVMaLrfQL77j1x3vW_TGooURPCClAVN1GhHGd-F4MGqrXcb7R8VwWqoTg3VqUN1SfB2b9vXG1ge8D9dJeD9HtDB6MZ63RoX_nKcU0KKgat23E_XwOMT36qbL5PxvyHyndaFCL8OWu3vVSmYKNT3xaVafF4wfj7lasJ-A0f5v5Y</recordid><startdate>201108</startdate><enddate>201108</enddate><creator>Hachani, Johan</creator><creator>Duban-Deweer, Sophie</creator><creator>Pottiez, Gwënaël</creator><creator>Renom, Gilles</creator><creator>Flahaut, Christophe</creator><creator>Périni, Jean-Marc</creator><general>WILEY-VCH Verlag</general><general>WILEY‐VCH Verlag</general><general>Wiley</general><general>Wiley Subscription Services, Inc</general><scope>BSCLL</scope><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7T5</scope><scope>7TK</scope><scope>7TM</scope><scope>7TO</scope><scope>8FD</scope><scope>FR3</scope><scope>H94</scope><scope>K9.</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope><scope>7QO</scope></search><sort><creationdate>201108</creationdate><title>MALDI-TOF MS profiling as the first-tier screen for sickle cell disease in neonates: Matching throughput to objectives</title><author>Hachani, Johan ; Duban-Deweer, Sophie ; Pottiez, Gwënaël ; Renom, Gilles ; Flahaut, Christophe ; Périni, Jean-Marc</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4723-7e3de68e8646d98aa0209e7fbc818f089004b787235fc24c03129cff67b2c2c43</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2011</creationdate><topic>Anemia, Sickle Cell - diagnosis</topic><topic>Anemia, Sickle Cell - economics</topic><topic>Anemia, Sickle Cell - pathology</topic><topic>Anemias. Hemoglobinopathies</topic><topic>Biological and medical sciences</topic><topic>Case-Control Studies</topic><topic>Cost-Benefit Analysis</topic><topic>Diseases of red blood cells</topic><topic>Diverse techniques</topic><topic>Female</topic><topic>Fundamental and applied biological sciences. Psychology</topic><topic>Hematologic and hematopoietic diseases</topic><topic>Hemoglobin, Sickle - analysis</topic><topic>High-Throughput Screening Assays - economics</topic><topic>High-Throughput Screening Assays - methods</topic><topic>Humans</topic><topic>Infant, Newborn</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Medical screening</topic><topic>Molecular and cellular biology</topic><topic>Neonatal screening</topic><topic>Neonatal Screening - economics</topic><topic>Neonatal Screening - methods</topic><topic>Objectives</topic><topic>Public Health</topic><topic>Quality Control</topic><topic>Retrospective Studies</topic><topic>Sensitivity and Specificity</topic><topic>Sickle cell anemia</topic><topic>Sickle cell disease</topic><topic>Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization - economics</topic><topic>Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization - methods</topic><topic>Thalassaemia</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Hachani, Johan</creatorcontrib><creatorcontrib>Duban-Deweer, Sophie</creatorcontrib><creatorcontrib>Pottiez, Gwënaël</creatorcontrib><creatorcontrib>Renom, Gilles</creatorcontrib><creatorcontrib>Flahaut, Christophe</creatorcontrib><creatorcontrib>Périni, Jean-Marc</creatorcontrib><collection>Istex</collection><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Immunology Abstracts</collection><collection>Neurosciences Abstracts</collection><collection>Nucleic Acids Abstracts</collection><collection>Oncogenes and Growth Factors Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><collection>Biotechnology Research Abstracts</collection><jtitle>Proteomics. Clinical applications</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Hachani, Johan</au><au>Duban-Deweer, Sophie</au><au>Pottiez, Gwënaël</au><au>Renom, Gilles</au><au>Flahaut, Christophe</au><au>Périni, Jean-Marc</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>MALDI-TOF MS profiling as the first-tier screen for sickle cell disease in neonates: Matching throughput to objectives</atitle><jtitle>Proteomics. Clinical applications</jtitle><addtitle>Prot. Clin. Appl</addtitle><date>2011-08</date><risdate>2011</risdate><volume>5</volume><issue>7-8</issue><spage>405</spage><epage>414</epage><pages>405-414</pages><issn>1862-8346</issn><eissn>1862-8354</eissn><abstract>Purpose: Universal newborn screening for sickle cell diseases (SCDs) is not currently performed in many countries concerned by this public health problem. Owing to the technical and financial limitations of standard profiling methods (IEF coupled to subsequent HPLC), ethnically targeted neonatal screening is often preferred. Here, we demonstrate that MALDI‐MS‐based SCD newborn screening could be considered as a potential method for a strategy to universal screening because of its high throughput, cost‐effectiveness, sensitivity and ability to automatically discriminate sickle haemoglobin.
Experimental design: We carried out a retrospective study of dried blood spots from 844 Guthrie cards. Four determinations of 1000 mass spectra were performed from each tested dried blood spot.
Results: The MALDI‐MS‐based screening was highly correlated with the reference method. Only 2.3% of the samples presented a poor spectral quality.
Conclusions and clinical relevance: Given that the overall acquisition, data reprocessing and software‐assisted classification (ClinProTools™) time for processing four mass determinations (corresponding to one sample) was around 1 min, 1000 samples can be analysed per day. Rather than seeking to detect as many different haemoglobinopathies as possible, it would become possible to use MALDI‐TOF‐MS to screen (at a constant cost) as many samples as possible for sickle cell disease.</abstract><cop>Weinheim</cop><pub>WILEY-VCH Verlag</pub><pmid>21751410</pmid><doi>10.1002/prca.201000093</doi><tpages>10</tpages></addata></record> |
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| ispartof | Proteomics. Clinical applications, 2011-08, Vol.5 (7-8), p.405-414 |
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| subjects | Anemia, Sickle Cell - diagnosis Anemia, Sickle Cell - economics Anemia, Sickle Cell - pathology Anemias. Hemoglobinopathies Biological and medical sciences Case-Control Studies Cost-Benefit Analysis Diseases of red blood cells Diverse techniques Female Fundamental and applied biological sciences. Psychology Hematologic and hematopoietic diseases Hemoglobin, Sickle - analysis High-Throughput Screening Assays - economics High-Throughput Screening Assays - methods Humans Infant, Newborn Male Medical sciences Medical screening Molecular and cellular biology Neonatal screening Neonatal Screening - economics Neonatal Screening - methods Objectives Public Health Quality Control Retrospective Studies Sensitivity and Specificity Sickle cell anemia Sickle cell disease Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization - economics Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization - methods Thalassaemia |
| title | MALDI-TOF MS profiling as the first-tier screen for sickle cell disease in neonates: Matching throughput to objectives |
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