Current issues in neonatal screening for cystic fibrosis and implications of the CF gene discovery
Many questions remain regarding the efficacy, toxicity, and costs of CF neonatal screening. It would be premature, in our opinion, to implement mass population screening of newborns for CF until the benefits and risks have been fully defined, and an adequate and logistically feasible testing system...
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Veröffentlicht in: | Pediatric pulmonology 1991, Vol.11 (S7), p.11-18 |
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container_title | Pediatric pulmonology |
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creator | Farrell, Philip M. Mischler, Elaine H. Fost, Norman C. Wilfond, Benjamin S. Tluczek, Audrey Gregg, Ronald G. Bruns, W. Theodore Hassemer, David J. Laessig, Ronald H. |
description | Many questions remain regarding the efficacy, toxicity, and costs of CF neonatal screening. It would be premature, in our opinion, to implement mass population screening of newborns for CF until the benefits and risks have been fully defined, and an adequate and logistically feasible testing system developed and/or highly effective therapy for CF lung disease becomes available. In addition, the ethical issues described herein need to be resolved. This pertains not only to the CF patient but also the heterozygote carrier. These reservations notwithstanding, the discovery of the CF gene should have a favorable impact both directly and indirectly on neonatal screening for the disease. Mutation analysis coupled to IRT testing seems most attractive at this time, at least on a research basis, but primary molecular diagnostic procedures might supervene in the future, particularly if they are financially feasible. |
doi_str_mv | 10.1002/ppul.1950110704 |
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Mutation analysis coupled to IRT testing seems most attractive at this time, at least on a research basis, but primary molecular diagnostic procedures might supervene in the future, particularly if they are financially feasible.</description><identifier>ISSN: 8755-6863</identifier><identifier>ISSN: 1054-187X</identifier><identifier>EISSN: 1099-0496</identifier><identifier>DOI: 10.1002/ppul.1950110704</identifier><identifier>PMID: 1782123</identifier><language>eng</language><publisher>New York: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>CF gene ; Chromosome Mapping ; Chromosomes, Human, Pair 7 ; Cystic fibrosis ; Cystic Fibrosis - genetics ; Cystic Fibrosis - prevention & control ; Genes, Recessive ; Genetic Testing ; Humans ; Infant, Newborn ; Neonatal Screening ; newborn ; screening ; Trypsin - blood ; United States</subject><ispartof>Pediatric pulmonology, 1991, Vol.11 (S7), p.11-18</ispartof><rights>Copyright © 1991 Wiley‐Liss, Inc., A Wiley Company</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3514-4caab978e21cd7630a978572004c8051937e4583d5b49914ca2b49cb7d4f9f743</citedby><cites>FETCH-LOGICAL-c3514-4caab978e21cd7630a978572004c8051937e4583d5b49914ca2b49cb7d4f9f743</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%2Fppul.1950110704$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fppul.1950110704$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,780,784,1417,4024,27923,27924,27925,45574,45575</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/1782123$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Farrell, Philip M.</creatorcontrib><creatorcontrib>Mischler, Elaine H.</creatorcontrib><creatorcontrib>Fost, Norman C.</creatorcontrib><creatorcontrib>Wilfond, Benjamin S.</creatorcontrib><creatorcontrib>Tluczek, Audrey</creatorcontrib><creatorcontrib>Gregg, Ronald G.</creatorcontrib><creatorcontrib>Bruns, W. Theodore</creatorcontrib><creatorcontrib>Hassemer, David J.</creatorcontrib><creatorcontrib>Laessig, Ronald H.</creatorcontrib><title>Current issues in neonatal screening for cystic fibrosis and implications of the CF gene discovery</title><title>Pediatric pulmonology</title><addtitle>Pediatr. Pulmonol</addtitle><description>Many questions remain regarding the efficacy, toxicity, and costs of CF neonatal screening. It would be premature, in our opinion, to implement mass population screening of newborns for CF until the benefits and risks have been fully defined, and an adequate and logistically feasible testing system developed and/or highly effective therapy for CF lung disease becomes available. In addition, the ethical issues described herein need to be resolved. This pertains not only to the CF patient but also the heterozygote carrier. These reservations notwithstanding, the discovery of the CF gene should have a favorable impact both directly and indirectly on neonatal screening for the disease. Mutation analysis coupled to IRT testing seems most attractive at this time, at least on a research basis, but primary molecular diagnostic procedures might supervene in the future, particularly if they are financially feasible.</description><subject>CF gene</subject><subject>Chromosome Mapping</subject><subject>Chromosomes, Human, Pair 7</subject><subject>Cystic fibrosis</subject><subject>Cystic Fibrosis - genetics</subject><subject>Cystic Fibrosis - prevention & control</subject><subject>Genes, Recessive</subject><subject>Genetic Testing</subject><subject>Humans</subject><subject>Infant, Newborn</subject><subject>Neonatal Screening</subject><subject>newborn</subject><subject>screening</subject><subject>Trypsin - blood</subject><subject>United States</subject><issn>8755-6863</issn><issn>1054-187X</issn><issn>1099-0496</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1991</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkDFPwzAQhS0EKqUwMyH5D6S1YztOxAQVLUgBOlAYLcdxiiF1IjsB8u9JFUTFxHR3evee7j4AzjGaYoTCWV235RQnDGGMOKIHYIxRkgSIJtEhGMecsSCKI3IMTrx_Q6jXEjwCI8zjEIdkDLJ565y2DTTet9pDY6HVlZWNLKFXTmtr7AYWlYOq841RsDCZq7zxUNocmm1dGiUbU1kPqwI2rxrOF3CjrYa58ar60K47BUeFLL0--6kTsF7cPM1vg_RxeTe_SgNFGKYBVVJmCY91iFXOI4JkPzAeIkRVjBhOCNeUxSRnGe2f6NfDvlEZz2mRFJySCZgNuao_0DtdiNqZrXSdwEjsYIkdLLGH1TsuBkfdZlud7_cHOr1-OeifptTdf3FitVqnf9KDwW18o79-3dK9i4gTzsTLw1Lg6Dm9v15G4oF8A38vhs4</recordid><startdate>1991</startdate><enddate>1991</enddate><creator>Farrell, Philip M.</creator><creator>Mischler, Elaine H.</creator><creator>Fost, Norman C.</creator><creator>Wilfond, Benjamin S.</creator><creator>Tluczek, Audrey</creator><creator>Gregg, Ronald G.</creator><creator>Bruns, W. Theodore</creator><creator>Hassemer, David J.</creator><creator>Laessig, Ronald H.</creator><general>Wiley Subscription Services, Inc., A Wiley Company</general><scope>BSCLL</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></search><sort><creationdate>1991</creationdate><title>Current issues in neonatal screening for cystic fibrosis and implications of the CF gene discovery</title><author>Farrell, Philip M. ; Mischler, Elaine H. ; Fost, Norman C. ; Wilfond, Benjamin S. ; Tluczek, Audrey ; Gregg, Ronald G. ; Bruns, W. Theodore ; Hassemer, David J. ; Laessig, Ronald H.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3514-4caab978e21cd7630a978572004c8051937e4583d5b49914ca2b49cb7d4f9f743</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1991</creationdate><topic>CF gene</topic><topic>Chromosome Mapping</topic><topic>Chromosomes, Human, Pair 7</topic><topic>Cystic fibrosis</topic><topic>Cystic Fibrosis - genetics</topic><topic>Cystic Fibrosis - prevention & control</topic><topic>Genes, Recessive</topic><topic>Genetic Testing</topic><topic>Humans</topic><topic>Infant, Newborn</topic><topic>Neonatal Screening</topic><topic>newborn</topic><topic>screening</topic><topic>Trypsin - blood</topic><topic>United States</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Farrell, Philip M.</creatorcontrib><creatorcontrib>Mischler, Elaine H.</creatorcontrib><creatorcontrib>Fost, Norman C.</creatorcontrib><creatorcontrib>Wilfond, Benjamin S.</creatorcontrib><creatorcontrib>Tluczek, Audrey</creatorcontrib><creatorcontrib>Gregg, Ronald G.</creatorcontrib><creatorcontrib>Bruns, W. Theodore</creatorcontrib><creatorcontrib>Hassemer, David J.</creatorcontrib><creatorcontrib>Laessig, Ronald H.</creatorcontrib><collection>Istex</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><jtitle>Pediatric pulmonology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Farrell, Philip M.</au><au>Mischler, Elaine H.</au><au>Fost, Norman C.</au><au>Wilfond, Benjamin S.</au><au>Tluczek, Audrey</au><au>Gregg, Ronald G.</au><au>Bruns, W. Theodore</au><au>Hassemer, David J.</au><au>Laessig, Ronald H.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Current issues in neonatal screening for cystic fibrosis and implications of the CF gene discovery</atitle><jtitle>Pediatric pulmonology</jtitle><addtitle>Pediatr. Pulmonol</addtitle><date>1991</date><risdate>1991</risdate><volume>11</volume><issue>S7</issue><spage>11</spage><epage>18</epage><pages>11-18</pages><issn>8755-6863</issn><issn>1054-187X</issn><eissn>1099-0496</eissn><abstract>Many questions remain regarding the efficacy, toxicity, and costs of CF neonatal screening. It would be premature, in our opinion, to implement mass population screening of newborns for CF until the benefits and risks have been fully defined, and an adequate and logistically feasible testing system developed and/or highly effective therapy for CF lung disease becomes available. In addition, the ethical issues described herein need to be resolved. This pertains not only to the CF patient but also the heterozygote carrier. These reservations notwithstanding, the discovery of the CF gene should have a favorable impact both directly and indirectly on neonatal screening for the disease. Mutation analysis coupled to IRT testing seems most attractive at this time, at least on a research basis, but primary molecular diagnostic procedures might supervene in the future, particularly if they are financially feasible.</abstract><cop>New York</cop><pub>Wiley Subscription Services, Inc., A Wiley Company</pub><pmid>1782123</pmid><doi>10.1002/ppul.1950110704</doi><tpages>8</tpages></addata></record> |
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subjects | CF gene Chromosome Mapping Chromosomes, Human, Pair 7 Cystic fibrosis Cystic Fibrosis - genetics Cystic Fibrosis - prevention & control Genes, Recessive Genetic Testing Humans Infant, Newborn Neonatal Screening newborn screening Trypsin - blood United States |
title | Current issues in neonatal screening for cystic fibrosis and implications of the CF gene discovery |
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