Seeking causes: Classifying and evaluating congenital heart defects in etiologic studies
Identifieur interne : 000B31 ( Istex/Corpus ); précédent : 000B30; suivant : 000B32Seeking causes: Classifying and evaluating congenital heart defects in etiologic studies
Auteurs : Lorenzo D. Botto ; Angela E. Lin ; Tiffany Riehle-Colarusso ; Sadia Malik ; Adolfo CorreaSource :
- Birth Defects Research Part A: Clinical and Molecular Teratology [ 1542-0752 ] ; 2007-10.
Abstract
BACKGROUND: Classification and analysis of congenital heart defects (CHD) in etiologic studies is particularly challenging because of diversity of cardiac phenotypes and underlying developmental mechanisms. We describe an approach to classification for risk assessment of CHD based on developmental and epidemiologic considerations, and apply it to data from the National Birth Defect Prevention Study (NBDPS). METHODS: The classification system incorporated the three dimensions of cardiac phenotype, cardiac complexity, and extracardiac anomalies. The system was designed to facilitate the assessment of simple isolated defects and common associations. A team with cardiologic expertise applied the system to a large sample from the NBDPS. RESULTS: Of the 4,703 cases of CHDs in the NBDPS with birth years 1997 through 2002, 63.6% were simple, isolated cases. Specific associations of CHDs represented the majority of the remainder. The mapping strategy generated relatively large samples for most cardiac phenotypes and provided enough detail to isolate important subgroups of CHDs that may differ by etiology or mechanism. CONCLUSIONS: Classification of CHDs that considers cardiac and extracardiac phenotypes is practically feasible, and yields manageable groups of well‐characterized phenotypes. Although best suited for large studies, this approach to classification and analysis can be a flexible and powerful tool in many types of etiologic studies of heart defects. Birth Defects Research (Part A), 2007. © 2007 Wiley‐Liss, Inc.
Url:
DOI: 10.1002/bdra.20403
Links to Exploration step
ISTEX:18602602F216ACB6B56E1ED8917F47E70312239CLe document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Seeking causes: Classifying and evaluating congenital heart defects in etiologic studies</title><author><name sortKey="Botto, Lorenzo D" sort="Botto, Lorenzo D" uniqKey="Botto L" first="Lorenzo D." last="Botto">Lorenzo D. Botto</name><affiliation><mods:affiliation>Division of Medical Genetics, University of Utah, Salt Lake City, Utah</mods:affiliation></affiliation><affiliation><mods:affiliation>Utah Birth Defect Network, Utah Department of Health, Salt Lake City, Utah</mods:affiliation></affiliation><affiliation><mods:affiliation>Dept. of Pediatrics, Division of Medical Genetics, University of Utah, Room 2C412 SOM, 50 North Medical Dr., Salt Lake City, Utah 84132===</mods:affiliation></affiliation></author><author><name sortKey="Lin, Angela E" sort="Lin, Angela E" uniqKey="Lin A" first="Angela E." last="Lin">Angela E. Lin</name><affiliation><mods:affiliation>Genetics Unit, MassGeneral Hospital for Children, Boston, Massachusetts</mods:affiliation></affiliation></author><author><name sortKey="Riehle Olarusso, Tiffany" sort="Riehle Olarusso, Tiffany" uniqKey="Riehle Olarusso T" first="Tiffany" last="Riehle-Colarusso">Tiffany Riehle-Colarusso</name><affiliation><mods:affiliation>National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia</mods:affiliation></affiliation></author><author><name sortKey="Malik, Sadia" sort="Malik, Sadia" uniqKey="Malik S" first="Sadia" last="Malik">Sadia Malik</name><affiliation><mods:affiliation>Arkansas Center for Birth Defects and Prevention, Little Rock, Arkansas</mods:affiliation></affiliation></author><author><name sortKey="Correa, Adolfo" sort="Correa, Adolfo" uniqKey="Correa A" first="Adolfo" last="Correa">Adolfo Correa</name><affiliation><mods:affiliation>Genetics Unit, MassGeneral Hospital for Children, Boston, Massachusetts</mods:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:18602602F216ACB6B56E1ED8917F47E70312239C</idno><date when="2007" year="2007">2007</date><idno type="doi">10.1002/bdra.20403</idno><idno type="url">https://api.istex.fr/document/18602602F216ACB6B56E1ED8917F47E70312239C/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">000B31</idno><idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Corpus" wicri:corpus="ISTEX">000B31</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Seeking causes: Classifying and evaluating congenital heart defects in etiologic studies<ref type="note" target="#fn1"></ref>
<ref type="note" target="#fn2"></ref></title><author><name sortKey="Botto, Lorenzo D" sort="Botto, Lorenzo D" uniqKey="Botto L" first="Lorenzo D." last="Botto">Lorenzo D. Botto</name><affiliation><mods:affiliation>Division of Medical Genetics, University of Utah, Salt Lake City, Utah</mods:affiliation></affiliation><affiliation><mods:affiliation>Utah Birth Defect Network, Utah Department of Health, Salt Lake City, Utah</mods:affiliation></affiliation><affiliation><mods:affiliation>Dept. of Pediatrics, Division of Medical Genetics, University of Utah, Room 2C412 SOM, 50 North Medical Dr., Salt Lake City, Utah 84132===</mods:affiliation></affiliation></author><author><name sortKey="Lin, Angela E" sort="Lin, Angela E" uniqKey="Lin A" first="Angela E." last="Lin">Angela E. Lin</name><affiliation><mods:affiliation>Genetics Unit, MassGeneral Hospital for Children, Boston, Massachusetts</mods:affiliation></affiliation></author><author><name sortKey="Riehle Olarusso, Tiffany" sort="Riehle Olarusso, Tiffany" uniqKey="Riehle Olarusso T" first="Tiffany" last="Riehle-Colarusso">Tiffany Riehle-Colarusso</name><affiliation><mods:affiliation>National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia</mods:affiliation></affiliation></author><author><name sortKey="Malik, Sadia" sort="Malik, Sadia" uniqKey="Malik S" first="Sadia" last="Malik">Sadia Malik</name><affiliation><mods:affiliation>Arkansas Center for Birth Defects and Prevention, Little Rock, Arkansas</mods:affiliation></affiliation></author><author><name sortKey="Correa, Adolfo" sort="Correa, Adolfo" uniqKey="Correa A" first="Adolfo" last="Correa">Adolfo Correa</name><affiliation><mods:affiliation>Genetics Unit, MassGeneral Hospital for Children, Boston, Massachusetts</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j" type="main">Birth Defects Research Part A: Clinical and Molecular Teratology</title><title level="j" type="alt">BIRTH DEFECTS RESEARCH PART A: CLINICAL AND MOLECULAR TERATOLOGY</title><idno type="ISSN">1542-0752</idno><idno type="eISSN">1542-0760</idno><imprint><biblScope unit="vol">79</biblScope><biblScope unit="issue">10</biblScope><biblScope unit="page" from="714">714</biblScope><biblScope unit="page" to="727">727</biblScope><biblScope unit="page-count">14</biblScope><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2007-10">2007-10</date></imprint><idno type="ISSN">1542-0752</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">1542-0752</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract">BACKGROUND: Classification and analysis of congenital heart defects (CHD) in etiologic studies is particularly challenging because of diversity of cardiac phenotypes and underlying developmental mechanisms. We describe an approach to classification for risk assessment of CHD based on developmental and epidemiologic considerations, and apply it to data from the National Birth Defect Prevention Study (NBDPS). METHODS: The classification system incorporated the three dimensions of cardiac phenotype, cardiac complexity, and extracardiac anomalies. The system was designed to facilitate the assessment of simple isolated defects and common associations. A team with cardiologic expertise applied the system to a large sample from the NBDPS. RESULTS: Of the 4,703 cases of CHDs in the NBDPS with birth years 1997 through 2002, 63.6% were simple, isolated cases. Specific associations of CHDs represented the majority of the remainder. The mapping strategy generated relatively large samples for most cardiac phenotypes and provided enough detail to isolate important subgroups of CHDs that may differ by etiology or mechanism. CONCLUSIONS: Classification of CHDs that considers cardiac and extracardiac phenotypes is practically feasible, and yields manageable groups of well‐characterized phenotypes. Although best suited for large studies, this approach to classification and analysis can be a flexible and powerful tool in many types of etiologic studies of heart defects. Birth Defects Research (Part A), 2007. © 2007 Wiley‐Liss, Inc.</div></front></TEI><istex><corpusName>wiley</corpusName><keywords><teeft><json:string>septal</json:string><json:string>avsd</json:string><json:string>atrial</json:string><json:string>atresia</json:string><json:string>stenosis</json:string><json:string>malformation</json:string><json:string>fallot</json:string><json:string>ventricular</json:string><json:string>tetralogy</json:string><json:string>phenotype</json:string><json:string>defect</json:string><json:string>rvoto</json:string><json:string>conotruncal</json:string><json:string>aortic</json:string><json:string>lvoto</json:string><json:string>atrial septal defect</json:string><json:string>heterotaxy</json:string><json:string>coarctation</json:string><json:string>great arteries</json:string><json:string>atrioventricular</json:string><json:string>botto</json:string><json:string>nbdps</json:string><json:string>ventricular septal defect</json:string><json:string>heart defects</json:string><json:string>tricuspid</json:string><json:string>etiologic</json:string><json:string>cardiac</json:string><json:string>extracardiac</json:string><json:string>anomaly</json:string><json:string>musc</json:string><json:string>apvr</json:string><json:string>pulmonary atresia</json:string><json:string>obstruction</json:string><json:string>congenital</json:string><json:string>truncus</json:string><json:string>cardiology</json:string><json:string>pulmonic</json:string><json:string>conov</json:string><json:string>birth defects</json:string><json:string>etiologic studies</json:string><json:string>secundum</json:string><json:string>septal defect</json:string><json:string>venous</json:string><json:string>tapvr</json:string><json:string>papvr</json:string><json:string>dorv</json:string><json:string>hypoplastic</json:string><json:string>pulm</json:string><json:string>hlhs</json:string><json:string>perimembranous</json:string><json:string>noninlet</json:string><json:string>chds</json:string><json:string>ndings</json:string><json:string>epidemiology</json:string><json:string>cardiovascular malformations</json:string><json:string>ebstein</json:string><json:string>venous return</json:string><json:string>atrioventricular septal defect</json:string><json:string>aortic stenosis</json:string><json:string>single ventricle</json:string><json:string>national birth defects prevention study</json:string><json:string>asd2</json:string><json:string>birth defects research</json:string><json:string>heart syndrome</json:string><json:string>dilv</json:string><json:string>rasmussen</json:string><json:string>risk factors</json:string><json:string>tricuspid atresia</json:string><json:string>septum</json:string><json:string>surg</json:string><json:string>main groups</json:string><json:string>congenital heart disease</json:string><json:string>cardiac phenotype</json:string><json:string>cardiol</json:string><json:string>arteriosus</json:string><json:string>cardiac complexity</json:string><json:string>hypoplasia</json:string><json:string>epidemiologic</json:string><json:string>ferencz</json:string><json:string>vsds</json:string><json:string>database</json:string><json:string>pediatrics</json:string><json:string>valve</json:string><json:string>cardiovascular</json:string><json:string>congenital heart defects</json:string><json:string>disease control</json:string><json:string>ventricle</json:string><json:string>pulmonic valve stenosis</json:string><json:string>extracardiac malformations</json:string><json:string>pediatric cardiology</json:string><json:string>ventricular tract obstruction</json:string><json:string>aortic arch</json:string><json:string>extracardiac anomalies</json:string><json:string>anomalous</json:string><json:string>double inlet</json:string><json:string>double outlet right ventricle</json:string><json:string>baby phenotype</json:string><json:string>european paediatric</json:string><json:string>heart disease</json:string><json:string>conotruncal defects</json:string><json:string>study period</json:string><json:string>tract obstruction</json:string><json:string>pulmonic stenosis</json:string><json:string>laterality defects</json:string><json:string>secundum atrial septal defect</json:string><json:string>pulmonary stenosis</json:string><json:string>outlet right ventricle</json:string><json:string>situs inversus totalis</json:string><json:string>large aggregates</json:string><json:string>conov asd2</json:string><json:string>syndrome</json:string></teeft></keywords><author><json:item><name>Lorenzo D. Botto</name><affiliations><json:string>Division of Medical Genetics, University of Utah, Salt Lake City, Utah</json:string><json:string>Utah Birth Defect Network, Utah Department of Health, Salt Lake City, Utah</json:string><json:string>Dept. of Pediatrics, Division of Medical Genetics, University of Utah, Room 2C412 SOM, 50 North Medical Dr., Salt Lake City, Utah 84132===</json:string></affiliations></json:item><json:item><name>Angela E. Lin</name><affiliations><json:string>Genetics Unit, MassGeneral Hospital for Children, Boston, Massachusetts</json:string></affiliations></json:item><json:item><name>Tiffany Riehle‐Colarusso</name><affiliations><json:string>National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia</json:string></affiliations></json:item><json:item><name>Sadia Malik</name><affiliations><json:string>Arkansas Center for Birth Defects and Prevention, Little Rock, Arkansas</json:string></affiliations></json:item><json:item><name>Adolfo Correa</name><affiliations><json:string>Genetics Unit, MassGeneral Hospital for Children, Boston, Massachusetts</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>congenital heart defects</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>classification</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>etiology</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>prevention</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>epidemiology</value></json:item></subject><articleId><json:string>BDRA20403</json:string></articleId><language><json:string>eng</json:string></language><originalGenre><json:string>article</json:string></originalGenre><abstract>BACKGROUND: Classification and analysis of congenital heart defects (CHD) in etiologic studies is particularly challenging because of diversity of cardiac phenotypes and underlying developmental mechanisms. We describe an approach to classification for risk assessment of CHD based on developmental and epidemiologic considerations, and apply it to data from the National Birth Defect Prevention Study (NBDPS). METHODS: The classification system incorporated the three dimensions of cardiac phenotype, cardiac complexity, and extracardiac anomalies. The system was designed to facilitate the assessment of simple isolated defects and common associations. A team with cardiologic expertise applied the system to a large sample from the NBDPS. RESULTS: Of the 4,703 cases of CHDs in the NBDPS with birth years 1997 through 2002, 63.6% were simple, isolated cases. Specific associations of CHDs represented the majority of the remainder. The mapping strategy generated relatively large samples for most cardiac phenotypes and provided enough detail to isolate important subgroups of CHDs that may differ by etiology or mechanism. CONCLUSIONS: Classification of CHDs that considers cardiac and extracardiac phenotypes is practically feasible, and yields manageable groups of well‐characterized phenotypes. Although best suited for large studies, this approach to classification and analysis can be a flexible and powerful tool in many types of etiologic studies of heart defects. Birth Defects Research (Part A), 2007. © 2007 Wiley‐Liss, Inc.</abstract><qualityIndicators><score>7.616</score><pdfVersion>1.3</pdfVersion><pdfPageSize>612 x 810 pts</pdfPageSize><refBibsNative>true</refBibsNative><abstractCharCount>1538</abstractCharCount><pdfWordCount>7560</pdfWordCount><pdfCharCount>54359</pdfCharCount><pdfPageCount>14</pdfPageCount><abstractWordCount>218</abstractWordCount></qualityIndicators><title>Seeking causes: Classifying and evaluating congenital heart defects in etiologic studies</title><genre><json:string>article</json:string></genre><host><title>Birth Defects Research Part A: Clinical and Molecular Teratology</title><language><json:string>unknown</json:string></language><doi><json:string>10.1002/(ISSN)1542-0760</json:string></doi><issn><json:string>1542-0752</json:string></issn><eissn><json:string>1542-0760</json:string></eissn><publisherId><json:string>BDRA</json:string></publisherId><volume>79</volume><issue>10</issue><pages><first>714</first><last>727</last><total>14</total></pages><genre><json:string>journal</json:string></genre><subject><json:item><value>Research Article</value></json:item></subject></host><publicationDate>2007</publicationDate><copyrightDate>2007</copyrightDate><doi><json:string>10.1002/bdra.20403</json:string></doi><id>18602602F216ACB6B56E1ED8917F47E70312239C</id><score>1</score><fulltext><json:item><extension>pdf</extension><original>true</original><mimetype>application/pdf</mimetype><uri>https://api.istex.fr/document/18602602F216ACB6B56E1ED8917F47E70312239C/fulltext/pdf</uri></json:item><json:item><extension>zip</extension><original>false</original><mimetype>application/zip</mimetype><uri>https://api.istex.fr/document/18602602F216ACB6B56E1ED8917F47E70312239C/fulltext/zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/document/18602602F216ACB6B56E1ED8917F47E70312239C/fulltext/tei"><teiHeader><fileDesc><titleStmt><title level="a" type="main" xml:lang="en">Seeking causes: Classifying and evaluating congenital heart defects in etiologic studies<ref type="note" target="#fn1"></ref>
<ref type="note" target="#fn2"></ref></title></titleStmt><publicationStmt><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><availability><licence>Copyright © 2007 Wiley‐Liss, Inc.</licence></availability><date type="published" when="2007-10"></date></publicationStmt><notesStmt><note type="content-type" subtype="article" source="article" scheme="https://content-type.data.istex.fr/ark:/67375/XTP-6N5SZHKN-D">article</note><note type="publication-type" subtype="journal" scheme="https://publication-type.data.istex.fr/ark:/67375/JMC-0GLKJH51-B">journal</note></notesStmt><sourceDesc><biblStruct type="article"><analytic><title level="a" type="main" xml:lang="en">Seeking causes: Classifying and evaluating congenital heart defects in etiologic studies<ref type="note" target="#fn1"></ref>
<ref type="note" target="#fn2"></ref></title><title level="a" type="short" xml:lang="en">Classifying and Evaluating CHD in Etiologic Studies</title><author xml:id="author-0000" role="corresp"><persName><forename type="first">Lorenzo D.</forename><surname>Botto</surname></persName><email>lorenzo.botto@hsc.utah.edu</email><affiliation>Division of Medical Genetics, University of Utah, Salt Lake City, Utah<address><country key="US"></country></address></affiliation><affiliation>Utah Birth Defect Network, Utah Department of Health, Salt Lake City, Utah<address><country key="US"></country></address></affiliation><affiliation>Dept. of Pediatrics, Division of Medical Genetics, University of Utah, Room 2C412 SOM, 50 North Medical Dr., Salt Lake City, Utah 84132===</affiliation></author><author xml:id="author-0001"><persName><forename type="first">Angela E.</forename><surname>Lin</surname></persName><affiliation>Genetics Unit, MassGeneral Hospital for Children, Boston, Massachusetts<address><country key="US"></country></address></affiliation></author><author xml:id="author-0002"><persName><forename type="first">Tiffany</forename><surname>Riehle‐Colarusso</surname></persName><affiliation>National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia<address><country key="US"></country></address></affiliation></author><author xml:id="author-0003"><persName><forename type="first">Sadia</forename><surname>Malik</surname></persName><affiliation>Arkansas Center for Birth Defects and Prevention, Little Rock, Arkansas<address><country key="US"></country></address></affiliation></author><author xml:id="author-0004"><persName><forename type="first">Adolfo</forename><surname>Correa</surname></persName><affiliation>Genetics Unit, MassGeneral Hospital for Children, Boston, Massachusetts<address><country key="US"></country></address></affiliation></author><idno type="istex">18602602F216ACB6B56E1ED8917F47E70312239C</idno><idno type="DOI">10.1002/bdra.20403</idno><idno type="unit">BDRA20403</idno><idno type="toTypesetVersion">file:BDRA.BDRA20403.pdf</idno></analytic><monogr><title level="j" type="main">Birth Defects Research Part A: Clinical and Molecular Teratology</title><title level="j" type="alt">BIRTH DEFECTS RESEARCH PART A: CLINICAL AND MOLECULAR TERATOLOGY</title><idno type="pISSN">1542-0752</idno><idno type="eISSN">1542-0760</idno><idno type="book-DOI">10.1002/(ISSN)1542-0760</idno><idno type="book-part-DOI">10.1002/bdra.v79:10</idno><idno type="product">BDRA</idno><imprint><biblScope unit="vol">79</biblScope><biblScope unit="issue">10</biblScope><biblScope unit="page" from="714">714</biblScope><biblScope unit="page" to="727">727</biblScope><biblScope unit="page-count">14</biblScope><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2007-10"></date></imprint></monogr></biblStruct></sourceDesc></fileDesc><profileDesc><abstract xml:lang="en" style="main"><head>Abstract</head><p><hi rend="bold">BACKGROUND:</hi> Classification and analysis of congenital heart defects (CHD) in etiologic studies is particularly challenging because of diversity of cardiac phenotypes and underlying developmental mechanisms. We describe an approach to classification for risk assessment of CHD based on developmental and epidemiologic considerations, and apply it to data from the National Birth Defect Prevention Study (NBDPS). <hi rend="bold">METHODS:</hi> The classification system incorporated the three dimensions of cardiac phenotype, cardiac complexity, and extracardiac anomalies. The system was designed to facilitate the assessment of simple isolated defects and common associations. A team with cardiologic expertise applied the system to a large sample from the NBDPS. <hi rend="bold">RESULTS:</hi> Of the 4,703 cases of CHDs in the NBDPS with birth years 1997 through 2002, 63.6% were simple, isolated cases. Specific associations of CHDs represented the majority of the remainder. The mapping strategy generated relatively large samples for most cardiac phenotypes and provided enough detail to isolate important subgroups of CHDs that may differ by etiology or mechanism. <hi rend="bold">CONCLUSIONS:</hi> Classification of CHDs that considers cardiac and extracardiac phenotypes is practically feasible, and yields manageable groups of well‐characterized phenotypes. Although best suited for large studies, this approach to classification and analysis can be a flexible and powerful tool in many types of etiologic studies of heart defects. Birth Defects Research (Part A), 2007. © 2007 Wiley‐Liss, Inc.</p></abstract><textClass><keywords xml:lang="en"><term xml:id="kwd1">congenital heart defects</term><term xml:id="kwd2">classification</term><term xml:id="kwd3">etiology</term><term xml:id="kwd4">prevention</term><term xml:id="kwd5">epidemiology</term></keywords><classCode scheme="articleCategory">Research Article</classCode><classCode scheme="tocHeading1">Original Articles</classCode></textClass><langUsage><language ident="EN"></language></langUsage></profileDesc></teiHeader></istex:fulltextTEI><json:item><extension>txt</extension><original>false</original><mimetype>text/plain</mimetype><uri>https://api.istex.fr/document/18602602F216ACB6B56E1ED8917F47E70312239C/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="Wiley, elements deleted: body"><istex:xmlDeclaration>version="1.0" encoding="UTF-8" standalone="yes"</istex:xmlDeclaration><istex:document><component version="2.0" type="serialArticle" xml:lang="en"><header><publicationMeta level="product"><publisherInfo><publisherName>Wiley Subscription Services, Inc., A Wiley Company</publisherName><publisherLoc>Hoboken</publisherLoc></publisherInfo><doi registered="yes">10.1002/(ISSN)1542-0760</doi><issn type="print">1542-0752</issn><issn type="electronic">1542-0760</issn><idGroup><id type="product" value="BDRA"></id></idGroup><titleGroup><title type="main" xml:lang="en" sort="BIRTH DEFECTS RESEARCH PART A: CLINICAL AND MOLECULAR TERATOLOGY">Birth Defects Research Part A: Clinical and Molecular Teratology</title><title type="short">Birth Defects Research Part A: Clinical and Molecular Teratology</title></titleGroup><selfCitationGroup><citation type="ancestor" xml:id="cit1"><journalTitle>Teratology</journalTitle><accessionId ref="info:x-wiley/issn/00403709">0040-3709</accessionId><pubYear year="2002">2002</pubYear><vol>66</vol><issue>6</issue></citation></selfCitationGroup></publicationMeta><publicationMeta level="part" position="100"><doi origin="wiley" registered="yes">10.1002/bdra.v79:10</doi><numberingGroup><numbering type="journalVolume" number="79">79</numbering><numbering type="journalIssue">10</numbering></numberingGroup><coverDate startDate="2007-10">October 2007</coverDate></publicationMeta><publicationMeta level="unit" type="article" position="80" status="forIssue"><doi origin="wiley" registered="yes">10.1002/bdra.20403</doi><idGroup><id type="unit" value="BDRA20403"></id></idGroup><countGroup><count type="pageTotal" number="14"></count></countGroup><titleGroup><title type="articleCategory">Research Article</title><title type="tocHeading1">Original Articles</title></titleGroup><copyright ownership="publisher">Copyright © 2007 Wiley‐Liss, Inc.</copyright><eventGroup><event type="manuscriptReceived" date="2007-04-12"></event><event type="manuscriptRevised" date="2007-07-17"></event><event type="manuscriptAccepted" date="2007-08-01"></event><event type="publishedOnlineEarlyUnpaginated" date="2007-08-29"></event><event type="firstOnline" date="2007-08-29"></event><event type="publishedOnlineFinalForm" date="2007-10-08"></event><event type="xmlConverted" agent="Converter:JWSART34_TO_WML3G version:2.3.6 mode:FullText source:FullText result:FullText" date="2010-04-20"></event><event type="xmlConverted" agent="Converter:WILEY_ML3G_TO_WILEY_ML3GV2 version:4.0.1" date="2014-03-15"></event><event type="xmlConverted" agent="Converter:WML3G_To_WML3G version:4.1.7 mode:FullText,remove_FC" date="2014-10-15"></event></eventGroup><numberingGroup><numbering type="pageFirst">714</numbering><numbering type="pageLast">727</numbering></numberingGroup><correspondenceTo>Dept. of Pediatrics, Division of Medical Genetics, University of Utah, Room 2C412 SOM, 50 North Medical Dr., Salt Lake City, Utah 84132===</correspondenceTo><objectNameGroup><objectName elementName="appendix">Appendix</objectName></objectNameGroup><linkGroup><link type="toTypesetVersion" href="file:BDRA.BDRA20403.pdf"></link></linkGroup></publicationMeta><contentMeta><countGroup><count type="figureTotal" number="1"></count><count type="tableTotal" number="7"></count><count type="referenceTotal" number="49"></count><count type="wordTotal" number="14446"></count></countGroup><titleGroup><title type="main" xml:lang="en">Seeking causes: Classifying and evaluating congenital heart defects in etiologic studies<link href="#fn1"></link> <link href="#fn2"></link></title><title type="short" xml:lang="en">Classifying and Evaluating CHD in Etiologic Studies</title></titleGroup><creators><creator xml:id="au1" creatorRole="author" affiliationRef="#af1 #af2" corresponding="yes"><personName><givenNames>Lorenzo D.</givenNames><familyName>Botto</familyName></personName><contactDetails><email>lorenzo.botto@hsc.utah.edu</email></contactDetails></creator><creator xml:id="au2" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Angela E.</givenNames><familyName>Lin</familyName></personName></creator><creator xml:id="au3" creatorRole="author" affiliationRef="#af4"><personName><givenNames>Tiffany</givenNames><familyName>Riehle‐Colarusso</familyName></personName></creator><creator xml:id="au4" creatorRole="author" affiliationRef="#af5"><personName><givenNames>Sadia</givenNames><familyName>Malik</familyName></personName></creator><creator xml:id="au5" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Adolfo</givenNames><familyName>Correa</familyName></personName></creator></creators><affiliationGroup><affiliation xml:id="af1" countryCode="US" type="organization"><unparsedAffiliation>Division of Medical Genetics, University of Utah, Salt Lake City, Utah</unparsedAffiliation></affiliation><affiliation xml:id="af2" countryCode="US" type="organization"><unparsedAffiliation>Utah Birth Defect Network, Utah Department of Health, Salt Lake City, Utah</unparsedAffiliation></affiliation><affiliation xml:id="af3" countryCode="US" type="organization"><unparsedAffiliation>Genetics Unit, MassGeneral Hospital for Children, Boston, Massachusetts</unparsedAffiliation></affiliation><affiliation xml:id="af4" countryCode="US" type="organization"><unparsedAffiliation>National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia</unparsedAffiliation></affiliation><affiliation xml:id="af5" countryCode="US" type="organization"><unparsedAffiliation>Arkansas Center for Birth Defects and Prevention, Little Rock, Arkansas</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">congenital heart defects</keyword><keyword xml:id="kwd2">classification</keyword><keyword xml:id="kwd3">etiology</keyword><keyword xml:id="kwd4">prevention</keyword><keyword xml:id="kwd5">epidemiology</keyword></keywordGroup><fundingInfo><fundingAgency>The NBDPS is supported by cooperative agreement from the Centers for Disease Control and Prevention</fundingAgency><fundingNumber>U50/CCU 1132247‐03</fundingNumber></fundingInfo><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p><b>BACKGROUND:</b> Classification and analysis of congenital heart defects (CHD) in etiologic studies is particularly challenging because of diversity of cardiac phenotypes and underlying developmental mechanisms. We describe an approach to classification for risk assessment of CHD based on developmental and epidemiologic considerations, and apply it to data from the National Birth Defect Prevention Study (NBDPS). <b>METHODS:</b> The classification system incorporated the three dimensions of cardiac phenotype, cardiac complexity, and extracardiac anomalies. The system was designed to facilitate the assessment of simple isolated defects and common associations. A team with cardiologic expertise applied the system to a large sample from the NBDPS. <b>RESULTS:</b> Of the 4,703 cases of CHDs in the NBDPS with birth years 1997 through 2002, 63.6% were simple, isolated cases. Specific associations of CHDs represented the majority of the remainder. The mapping strategy generated relatively large samples for most cardiac phenotypes and provided enough detail to isolate important subgroups of CHDs that may differ by etiology or mechanism. <b>CONCLUSIONS:</b> Classification of CHDs that considers cardiac and extracardiac phenotypes is practically feasible, and yields manageable groups of well‐characterized phenotypes. Although best suited for large studies, this approach to classification and analysis can be a flexible and powerful tool in many types of etiologic studies of heart defects. Birth Defects Research (Part A), 2007. © 2007 Wiley‐Liss, Inc.</p></abstract></abstractGroup></contentMeta><noteGroup><note xml:id="fn1"><p>The authors have indicated that they have no financial relationships to this article to disclose.</p></note><note xml:id="fn2"><p>The findings and conclusions in this report are those of the author(s) and do not necessarily represent the views of the Centers for Disease Control and Prevention.</p></note></noteGroup></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Seeking causes: Classifying and evaluating congenital heart defects in etiologic studies</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>Classifying and Evaluating CHD in Etiologic Studies</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Seeking causes: Classifying and evaluating congenital heart defects in etiologic studies</title></titleInfo><name type="personal"><namePart type="given">Lorenzo D.</namePart><namePart type="family">Botto</namePart><affiliation>Division of Medical Genetics, University of Utah, Salt Lake City, Utah</affiliation><affiliation>Utah Birth Defect Network, Utah Department of Health, Salt Lake City, Utah</affiliation><affiliation>Dept. of Pediatrics, Division of Medical Genetics, University of Utah, Room 2C412 SOM, 50 North Medical Dr., Salt Lake City, Utah 84132===</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Angela E.</namePart><namePart type="family">Lin</namePart><affiliation>Genetics Unit, MassGeneral Hospital for Children, Boston, Massachusetts</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Tiffany</namePart><namePart type="family">Riehle‐Colarusso</namePart><affiliation>National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Sadia</namePart><namePart type="family">Malik</namePart><affiliation>Arkansas Center for Birth Defects and Prevention, Little Rock, Arkansas</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Adolfo</namePart><namePart type="family">Correa</namePart><affiliation>Genetics Unit, MassGeneral Hospital for Children, Boston, Massachusetts</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="article" displayLabel="article"></genre><originInfo><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><place><placeTerm type="text">Hoboken</placeTerm></place><dateIssued encoding="w3cdtf">2007-10</dateIssued><dateCaptured encoding="w3cdtf">2007-04-12</dateCaptured><dateValid encoding="w3cdtf">2007-08-01</dateValid><copyrightDate encoding="w3cdtf">2007</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType><extent unit="figures">1</extent><extent unit="tables">7</extent><extent unit="references">49</extent><extent unit="words">14446</extent></physicalDescription><abstract>BACKGROUND: Classification and analysis of congenital heart defects (CHD) in etiologic studies is particularly challenging because of diversity of cardiac phenotypes and underlying developmental mechanisms. We describe an approach to classification for risk assessment of CHD based on developmental and epidemiologic considerations, and apply it to data from the National Birth Defect Prevention Study (NBDPS). METHODS: The classification system incorporated the three dimensions of cardiac phenotype, cardiac complexity, and extracardiac anomalies. The system was designed to facilitate the assessment of simple isolated defects and common associations. A team with cardiologic expertise applied the system to a large sample from the NBDPS. RESULTS: Of the 4,703 cases of CHDs in the NBDPS with birth years 1997 through 2002, 63.6% were simple, isolated cases. Specific associations of CHDs represented the majority of the remainder. The mapping strategy generated relatively large samples for most cardiac phenotypes and provided enough detail to isolate important subgroups of CHDs that may differ by etiology or mechanism. CONCLUSIONS: Classification of CHDs that considers cardiac and extracardiac phenotypes is practically feasible, and yields manageable groups of well‐characterized phenotypes. Although best suited for large studies, this approach to classification and analysis can be a flexible and powerful tool in many types of etiologic studies of heart defects. Birth Defects Research (Part A), 2007. © 2007 Wiley‐Liss, Inc.</abstract><note type="content">*The authors have indicated that they have no financial relationships to this article to disclose.</note><note type="content">*The findings and conclusions in this report are those of the author(s) and do not necessarily represent the views of the Centers for Disease Control and Prevention.</note><note type="funding">The NBDPS is supported by cooperative agreement from the Centers for Disease Control and Prevention - No. U50/CCU 1132247‐03; </note><subject lang="en"><genre>keywords</genre><topic>congenital heart defects</topic><topic>classification</topic><topic>etiology</topic><topic>prevention</topic><topic>epidemiology</topic></subject><relatedItem type="host"><titleInfo><title>Birth Defects Research Part A: Clinical and Molecular Teratology</title></titleInfo><titleInfo type="abbreviated"><title>Birth Defects Research Part A: Clinical and Molecular Teratology</title></titleInfo><genre type="journal">journal</genre><subject><genre>article-category</genre><topic>Research Article</topic></subject><identifier type="ISSN">1542-0752</identifier><identifier type="eISSN">1542-0760</identifier><identifier type="DOI">10.1002/(ISSN)1542-0760</identifier><identifier type="PublisherID">BDRA</identifier><part><date>2007</date><detail type="volume"><caption>vol.</caption><number>79</number></detail><detail type="issue"><caption>no.</caption><number>10</number></detail><extent unit="pages"><start>714</start><end>727</end><total>14</total></extent></part></relatedItem><relatedItem type="preceding"><titleInfo><title>Teratology</title></titleInfo><identifier type="ISSN">0040-3709</identifier><part><date point="end">2002</date><detail type="volume"><caption>last vol.</caption><number>66</number></detail><detail type="issue"><caption>last no.</caption><number>6</number></detail></part></relatedItem><identifier type="istex">18602602F216ACB6B56E1ED8917F47E70312239C</identifier><identifier type="DOI">10.1002/bdra.20403</identifier><identifier type="ArticleID">BDRA20403</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2007 Wiley‐Liss, Inc.</accessCondition><recordInfo><recordContentSource>WILEY</recordContentSource><recordOrigin>Wiley Subscription Services, Inc., A Wiley Company</recordOrigin></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/LymphedemaV1/Data/Istex/Corpus
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000B31 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Istex/Corpus/biblio.hfd -nk 000B31 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Sante
|area= LymphedemaV1
|flux= Istex
|étape= Corpus
|type= RBID
|clé= ISTEX:18602602F216ACB6B56E1ED8917F47E70312239C
|texte= Seeking causes: Classifying and evaluating congenital heart defects in etiologic studies
}}
| This area was generated with Dilib version V0.6.31. |  |