Impact of second-tier testing on the effectiveness of newborn screening
In one study, MS/MS analysis of newborn spot samples of dried blood collected ≤24 h after birth was compared with fluorometric analysis of the same samples. Because of this early time of collection, the decision level for an increased phenylalanine concentration was lowered by the public health labo...
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Veröffentlicht in: | Clinical chemistry (Baltimore, Md.) Md.), 2010-11, Vol.56 (11), p.1653-1655 |
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description | In one study, MS/MS analysis of newborn spot samples of dried blood collected ≤24 h after birth was compared with fluorometric analysis of the same samples. Because of this early time of collection, the decision level for an increased phenylalanine concentration was lowered by the public health laboratory using fluorometry to ensure that no infants with phenylketonuria were missed. [...] the primary screening of congenital adrenal hyperplasia is done with less selective methods, with a larger capture of presumptive positive cases being followed by a second-tier analysis. |
doi_str_mv | 10.1373/clinchem.2010.153494 |
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Because of this early time of collection, the decision level for an increased phenylalanine concentration was lowered by the public health laboratory using fluorometry to ensure that no infants with phenylketonuria were missed. [...] the primary screening of congenital adrenal hyperplasia is done with less selective methods, with a larger capture of presumptive positive cases being followed by a second-tier analysis.</description><identifier>ISSN: 0009-9147</identifier><identifier>EISSN: 1530-8561</identifier><identifier>DOI: 10.1373/clinchem.2010.153494</identifier><identifier>PMID: 20837783</identifier><language>eng</language><publisher>England: Oxford University Press</publisher><subject>Algorithms ; Biomarkers ; Biomarkers - blood ; Blood Specimen Collection ; Disease ; False Positive Reactions ; Fluorometry ; Humans ; Infant ; Infant, Newborn ; Laboratories ; Mass spectrometry ; Medical screening ; Metabolic disorders ; Metabolism, Inborn Errors - blood ; Metabolism, Inborn Errors - diagnosis ; Metabolites ; Methods ; Neonatal Screening - methods ; Newborn babies ; Public health ; Reference Values ; Reporting requirements ; Sensitivity and Specificity ; Tandem Mass Spectrometry</subject><ispartof>Clinical chemistry (Baltimore, Md.), 2010-11, Vol.56 (11), p.1653-1655</ispartof><rights>Copyright American Association for Clinical Chemistry Nov 2010</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c379t-75af5e424e7f0b5ae5d3b9b1bffd1a23fd893fc034d9e28b5ba1369355be102b3</citedby><cites>FETCH-LOGICAL-c379t-75af5e424e7f0b5ae5d3b9b1bffd1a23fd893fc034d9e28b5ba1369355be102b3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,777,781,27905,27906</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/20837783$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Chace, Donald H</creatorcontrib><creatorcontrib>Hannon, W Harry</creatorcontrib><title>Impact of second-tier testing on the effectiveness of newborn screening</title><title>Clinical chemistry (Baltimore, Md.)</title><addtitle>Clin Chem</addtitle><description>In one study, MS/MS analysis of newborn spot samples of dried blood collected ≤24 h after birth was compared with fluorometric analysis of the same samples. 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blood</topic><topic>Blood Specimen Collection</topic><topic>Disease</topic><topic>False Positive Reactions</topic><topic>Fluorometry</topic><topic>Humans</topic><topic>Infant</topic><topic>Infant, Newborn</topic><topic>Laboratories</topic><topic>Mass spectrometry</topic><topic>Medical screening</topic><topic>Metabolic disorders</topic><topic>Metabolism, Inborn Errors - blood</topic><topic>Metabolism, Inborn Errors - diagnosis</topic><topic>Metabolites</topic><topic>Methods</topic><topic>Neonatal Screening - methods</topic><topic>Newborn babies</topic><topic>Public health</topic><topic>Reference Values</topic><topic>Reporting requirements</topic><topic>Sensitivity and Specificity</topic><topic>Tandem Mass Spectrometry</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Chace, Donald H</creatorcontrib><creatorcontrib>Hannon, W Harry</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>University Readers</collection><collection>Biotechnology Research Abstracts</collection><collection>Nursing & Allied Health Database</collection><collection>Nucleic Acids Abstracts</collection><collection>Toxicology Abstracts</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Science Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>Public Health Database</collection><collection>Technology Research Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Technology Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>Materials Science & Engineering Collection</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest One Sustainability</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>ProQuest Central</collection><collection>Technology Collection</collection><collection>Natural Science Collection</collection><collection>Earth, Atmospheric & Aquatic Science Collection</collection><collection>Environmental Sciences and Pollution Management</collection><collection>ProQuest One Community College</collection><collection>ProQuest Materials Science Collection</collection><collection>ProQuest Central Korea</collection><collection>Engineering Research Database</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Materials Science Database</collection><collection>Nursing & Allied Health Database (Alumni Edition)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Science Database</collection><collection>Nursing & Allied Health Premium</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Earth, Atmospheric & Aquatic Science Database</collection><collection>Materials Science Collection</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central Basic</collection><collection>Genetics Abstracts</collection><collection>SIRS Editorial</collection><collection>MEDLINE - Academic</collection><jtitle>Clinical chemistry (Baltimore, Md.)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Chace, Donald H</au><au>Hannon, W Harry</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Impact of second-tier testing on the effectiveness of newborn screening</atitle><jtitle>Clinical chemistry (Baltimore, Md.)</jtitle><addtitle>Clin Chem</addtitle><date>2010-11</date><risdate>2010</risdate><volume>56</volume><issue>11</issue><spage>1653</spage><epage>1655</epage><pages>1653-1655</pages><issn>0009-9147</issn><eissn>1530-8561</eissn><abstract>In one study, MS/MS analysis of newborn spot samples of dried blood collected ≤24 h after birth was compared with fluorometric analysis of the same samples. Because of this early time of collection, the decision level for an increased phenylalanine concentration was lowered by the public health laboratory using fluorometry to ensure that no infants with phenylketonuria were missed. [...] the primary screening of congenital adrenal hyperplasia is done with less selective methods, with a larger capture of presumptive positive cases being followed by a second-tier analysis.</abstract><cop>England</cop><pub>Oxford University Press</pub><pmid>20837783</pmid><doi>10.1373/clinchem.2010.153494</doi><tpages>3</tpages><oa>free_for_read</oa></addata></record> |
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subjects | Algorithms Biomarkers Biomarkers - blood Blood Specimen Collection Disease False Positive Reactions Fluorometry Humans Infant Infant, Newborn Laboratories Mass spectrometry Medical screening Metabolic disorders Metabolism, Inborn Errors - blood Metabolism, Inborn Errors - diagnosis Metabolites Methods Neonatal Screening - methods Newborn babies Public health Reference Values Reporting requirements Sensitivity and Specificity Tandem Mass Spectrometry |
title | Impact of second-tier testing on the effectiveness of newborn screening |
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