Expanded Screening of One Million Swedish Babies with R4S and CLIR for Post-Analytical Evaluation of Data

Sweden has one neonatal screening laboratory, receiving 115 to 120 thousand samples per year. Among the one million babies screened by tandem mass spectrometry from November 2010 until July 2019, a total of 665 babies were recalled and 311 verified as having one of the diseases screened for with thi...

Full description

Saved in:
Bibliographic Details
Published in:International journal of neonatal screening 2020-06, Vol.6 (2)
Main Authors: Sörensen, Lene, von Döbeln, Ulrika, Åhlman, Henrik, Ohlsson, Annika, Engvall, Martin, Naess, Karin, Backman-Johansson, Carolina, Nordqvist, Yvonne, Wedell, Anna, Zetterström, Rolf H.
Format: Article
Language:English
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
cited_by
cites
container_end_page
container_issue 2
container_start_page
container_title International journal of neonatal screening
container_volume 6
creator Sörensen, Lene
von Döbeln, Ulrika
Åhlman, Henrik
Ohlsson, Annika
Engvall, Martin
Naess, Karin
Backman-Johansson, Carolina
Nordqvist, Yvonne
Wedell, Anna
Zetterström, Rolf H.
description Sweden has one neonatal screening laboratory, receiving 115 to 120 thousand samples per year. Among the one million babies screened by tandem mass spectrometry from November 2010 until July 2019, a total of 665 babies were recalled and 311 verified as having one of the diseases screened for with this methodology, giving a positive predictive value (PPV) of 47% and an incidence of 1:3200. The PPV was high (41%) already in the first year after start of screening, thanks to the availability of the collaborative project Region 4 Stork database. The PPV is presently 58%. This improvement was achieved by the implementation of second-tier analyses in the screening for methylmalonic aciduria, propionic aciduria, isovaleric aciduria, and homocystinuria, and the employment of various post analytical tools of the Region 4 Stork, and its successor the collaborative laboratory integrated reports.
doi_str_mv 10.3390/ijns6020042
format article
fullrecord <record><control><sourceid>pubmedcentral</sourceid><recordid>TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7423009</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>pubmedcentral_primary_oai_pubmedcentral_nih_gov_7423009</sourcerecordid><originalsourceid>FETCH-LOGICAL-p140t-e65b63c2b6ea23543ef83e41f091c3dd48f1733a69b489b18e3c9693f732ac943</originalsourceid><addsrcrecordid>eNpVjMtOwkAUQCcmRgiy8gfmB6p3eqeP2ZggopJgMFQTd81tOwNDyrTpFJC_F6MbV2dxcg5jNwJuERXc2a3zMYQAMrxgw1CCCiIRfQ7Y2PstAIhIJpjgFRsgQoKAOGR29tWSq3TFs7LT2lm35o3hS6f5q61r2zieHXVl_YY_UGG150fbb_hKZvyc8elivuKm6fhb4_tg4qg-9bakms8OVO-p_-nPu0fq6ZpdGqq9Hv9xxD6eZu_Tl2CxfJ5PJ4ugFRL6QMdREWMZFrGmECOJ2qSopTCgRIlVJVMjEkSKVSFTVYhUY6lihSbBkEolccTuf7_tvtjpqtSu76jO287uqDvlDdn8v3F2k6-bQ57IEAEUfgM7jmPe</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype></control><display><type>article</type><title>Expanded Screening of One Million Swedish Babies with R4S and CLIR for Post-Analytical Evaluation of Data</title><source>PubMed (Medline)</source><source>Publicly Available Content Database</source><creator>Sörensen, Lene ; von Döbeln, Ulrika ; Åhlman, Henrik ; Ohlsson, Annika ; Engvall, Martin ; Naess, Karin ; Backman-Johansson, Carolina ; Nordqvist, Yvonne ; Wedell, Anna ; Zetterström, Rolf H.</creator><creatorcontrib>Sörensen, Lene ; von Döbeln, Ulrika ; Åhlman, Henrik ; Ohlsson, Annika ; Engvall, Martin ; Naess, Karin ; Backman-Johansson, Carolina ; Nordqvist, Yvonne ; Wedell, Anna ; Zetterström, Rolf H.</creatorcontrib><description>Sweden has one neonatal screening laboratory, receiving 115 to 120 thousand samples per year. Among the one million babies screened by tandem mass spectrometry from November 2010 until July 2019, a total of 665 babies were recalled and 311 verified as having one of the diseases screened for with this methodology, giving a positive predictive value (PPV) of 47% and an incidence of 1:3200. The PPV was high (41%) already in the first year after start of screening, thanks to the availability of the collaborative project Region 4 Stork database. The PPV is presently 58%. This improvement was achieved by the implementation of second-tier analyses in the screening for methylmalonic aciduria, propionic aciduria, isovaleric aciduria, and homocystinuria, and the employment of various post analytical tools of the Region 4 Stork, and its successor the collaborative laboratory integrated reports.</description><identifier>EISSN: 2409-515X</identifier><identifier>DOI: 10.3390/ijns6020042</identifier><identifier>PMID: 33073033</identifier><language>eng</language><publisher>MDPI</publisher><ispartof>International journal of neonatal screening, 2020-06, Vol.6 (2)</ispartof><rights>2020 by the authors. 2020</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC7423009/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC7423009/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,724,777,781,882,27905,27906,53772,53774</link.rule.ids></links><search><creatorcontrib>Sörensen, Lene</creatorcontrib><creatorcontrib>von Döbeln, Ulrika</creatorcontrib><creatorcontrib>Åhlman, Henrik</creatorcontrib><creatorcontrib>Ohlsson, Annika</creatorcontrib><creatorcontrib>Engvall, Martin</creatorcontrib><creatorcontrib>Naess, Karin</creatorcontrib><creatorcontrib>Backman-Johansson, Carolina</creatorcontrib><creatorcontrib>Nordqvist, Yvonne</creatorcontrib><creatorcontrib>Wedell, Anna</creatorcontrib><creatorcontrib>Zetterström, Rolf H.</creatorcontrib><title>Expanded Screening of One Million Swedish Babies with R4S and CLIR for Post-Analytical Evaluation of Data</title><title>International journal of neonatal screening</title><description>Sweden has one neonatal screening laboratory, receiving 115 to 120 thousand samples per year. Among the one million babies screened by tandem mass spectrometry from November 2010 until July 2019, a total of 665 babies were recalled and 311 verified as having one of the diseases screened for with this methodology, giving a positive predictive value (PPV) of 47% and an incidence of 1:3200. The PPV was high (41%) already in the first year after start of screening, thanks to the availability of the collaborative project Region 4 Stork database. The PPV is presently 58%. This improvement was achieved by the implementation of second-tier analyses in the screening for methylmalonic aciduria, propionic aciduria, isovaleric aciduria, and homocystinuria, and the employment of various post analytical tools of the Region 4 Stork, and its successor the collaborative laboratory integrated reports.</description><issn>2409-515X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2020</creationdate><recordtype>article</recordtype><recordid>eNpVjMtOwkAUQCcmRgiy8gfmB6p3eqeP2ZggopJgMFQTd81tOwNDyrTpFJC_F6MbV2dxcg5jNwJuERXc2a3zMYQAMrxgw1CCCiIRfQ7Y2PstAIhIJpjgFRsgQoKAOGR29tWSq3TFs7LT2lm35o3hS6f5q61r2zieHXVl_YY_UGG150fbb_hKZvyc8elivuKm6fhb4_tg4qg-9bakms8OVO-p_-nPu0fq6ZpdGqq9Hv9xxD6eZu_Tl2CxfJ5PJ4ugFRL6QMdREWMZFrGmECOJ2qSopTCgRIlVJVMjEkSKVSFTVYhUY6lihSbBkEolccTuf7_tvtjpqtSu76jO287uqDvlDdn8v3F2k6-bQ57IEAEUfgM7jmPe</recordid><startdate>20200601</startdate><enddate>20200601</enddate><creator>Sörensen, Lene</creator><creator>von Döbeln, Ulrika</creator><creator>Åhlman, Henrik</creator><creator>Ohlsson, Annika</creator><creator>Engvall, Martin</creator><creator>Naess, Karin</creator><creator>Backman-Johansson, Carolina</creator><creator>Nordqvist, Yvonne</creator><creator>Wedell, Anna</creator><creator>Zetterström, Rolf H.</creator><general>MDPI</general><scope>5PM</scope></search><sort><creationdate>20200601</creationdate><title>Expanded Screening of One Million Swedish Babies with R4S and CLIR for Post-Analytical Evaluation of Data</title><author>Sörensen, Lene ; von Döbeln, Ulrika ; Åhlman, Henrik ; Ohlsson, Annika ; Engvall, Martin ; Naess, Karin ; Backman-Johansson, Carolina ; Nordqvist, Yvonne ; Wedell, Anna ; Zetterström, Rolf H.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-p140t-e65b63c2b6ea23543ef83e41f091c3dd48f1733a69b489b18e3c9693f732ac943</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2020</creationdate><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Sörensen, Lene</creatorcontrib><creatorcontrib>von Döbeln, Ulrika</creatorcontrib><creatorcontrib>Åhlman, Henrik</creatorcontrib><creatorcontrib>Ohlsson, Annika</creatorcontrib><creatorcontrib>Engvall, Martin</creatorcontrib><creatorcontrib>Naess, Karin</creatorcontrib><creatorcontrib>Backman-Johansson, Carolina</creatorcontrib><creatorcontrib>Nordqvist, Yvonne</creatorcontrib><creatorcontrib>Wedell, Anna</creatorcontrib><creatorcontrib>Zetterström, Rolf H.</creatorcontrib><collection>PubMed Central (Full Participant titles)</collection><jtitle>International journal of neonatal screening</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Sörensen, Lene</au><au>von Döbeln, Ulrika</au><au>Åhlman, Henrik</au><au>Ohlsson, Annika</au><au>Engvall, Martin</au><au>Naess, Karin</au><au>Backman-Johansson, Carolina</au><au>Nordqvist, Yvonne</au><au>Wedell, Anna</au><au>Zetterström, Rolf H.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Expanded Screening of One Million Swedish Babies with R4S and CLIR for Post-Analytical Evaluation of Data</atitle><jtitle>International journal of neonatal screening</jtitle><date>2020-06-01</date><risdate>2020</risdate><volume>6</volume><issue>2</issue><eissn>2409-515X</eissn><abstract>Sweden has one neonatal screening laboratory, receiving 115 to 120 thousand samples per year. Among the one million babies screened by tandem mass spectrometry from November 2010 until July 2019, a total of 665 babies were recalled and 311 verified as having one of the diseases screened for with this methodology, giving a positive predictive value (PPV) of 47% and an incidence of 1:3200. The PPV was high (41%) already in the first year after start of screening, thanks to the availability of the collaborative project Region 4 Stork database. The PPV is presently 58%. This improvement was achieved by the implementation of second-tier analyses in the screening for methylmalonic aciduria, propionic aciduria, isovaleric aciduria, and homocystinuria, and the employment of various post analytical tools of the Region 4 Stork, and its successor the collaborative laboratory integrated reports.</abstract><pub>MDPI</pub><pmid>33073033</pmid><doi>10.3390/ijns6020042</doi><oa>free_for_read</oa></addata></record>
fulltext fulltext
identifier EISSN: 2409-515X
ispartof International journal of neonatal screening, 2020-06, Vol.6 (2)
issn 2409-515X
language eng
recordid cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7423009
source PubMed (Medline); Publicly Available Content Database
title Expanded Screening of One Million Swedish Babies with R4S and CLIR for Post-Analytical Evaluation of Data
url http://sfxeu10.hosted.exlibrisgroup.com/loughborough?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-19T21%3A53%3A55IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-pubmedcentral&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Expanded%20Screening%20of%20One%20Million%20Swedish%20Babies%20with%20R4S%20and%20CLIR%20for%20Post-Analytical%20Evaluation%20of%20Data&rft.jtitle=International%20journal%20of%20neonatal%20screening&rft.au=S%C3%B6rensen,%20Lene&rft.date=2020-06-01&rft.volume=6&rft.issue=2&rft.eissn=2409-515X&rft_id=info:doi/10.3390/ijns6020042&rft_dat=%3Cpubmedcentral%3Epubmedcentral_primary_oai_pubmedcentral_nih_gov_7423009%3C/pubmedcentral%3E%3Cgrp_id%3Ecdi_FETCH-LOGICAL-p140t-e65b63c2b6ea23543ef83e41f091c3dd48f1733a69b489b18e3c9693f732ac943%3C/grp_id%3E%3Coa%3E%3C/oa%3E%3Curl%3E%3C/url%3E&rft_id=info:oai/&rft_id=info:pmid/33073033&rfr_iscdi=true