Prenatal diagnosis of chromosomal abnormalities in fetuses with abnormal cardiac ultrasound findings: evaluation of chromosomal microarray‐based analysis
ABSTRACT Objectives To assess the frequency of karyotype abnormalities and chromosome 22q11.2 deletion syndrome among fetuses with abnormal cardiac ultrasound findings, and to evaluate the clinical value of chromosomal microarray‐based analysis (CMA) in the study of such pregnancies. Methods First,...
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| Veröffentlicht in: | Ultrasound in obstetrics & gynecology 2013-04, Vol.41 (4), p.375-382 |
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| creator | Mademont‐Soler, I. Morales, C. Soler, A. MartÍnez‐Crespo, J. M. Shen, Y. Margarit, E. Clusellas, N. Obón, M. Wu, B.‐L. Sánchez, A. |
| description | ABSTRACT
Objectives
To assess the frequency of karyotype abnormalities and chromosome 22q11.2 deletion syndrome among fetuses with abnormal cardiac ultrasound findings, and to evaluate the clinical value of chromosomal microarray‐based analysis (CMA) in the study of such pregnancies.
Methods
First, we carried out retrospective analysis of karyotype abnormalities and 22q11.2 deletion syndrome cases diagnosed between January 2009 and December 2011 in our center among fetuses with abnormal cardiac ultrasound findings (n = 276). Second, CMA was performed in 51 of the fetuses with such findings, normal karyotype and negative or no 22q11.2 deletion syndrome study, and in the only fetus with a heart defect and an apparently balanced de novo chromosomal rearrangement.
Results
Out of the 276 pregnancies with abnormal cardiac ultrasound findings, karyotyping revealed a chromosomal abnormality in 44 (15.9%). Of fetuses with normal karyotype in which 22q11.2 deletion syndrome studies were performed, 6.4% (5/78) had this microdeletion syndrome. Among fetuses with abnormal cardiac findings, normal karyotype and negative or no 22q11.2 deletion syndrome study that underwent CMA, the detection rate of pathogenic copy number variants not detected by conventional cytogenetics was 2.0% (1/51), and no variants of uncertain clinical significance were found. In the fetus with a heart defect and an apparently balanced de novo chromosomal rearrangement, CMA revealed that the rearrangement was not truly balanced.
Conclusions
In the assessment of genetic abnormalities in pregnancies with abnormal cardiac ultrasound findings, the diagnostic yield may be increased by 2% if CMA is used as a complementary tool to conventional cytogenetics. Our results suggest that CMA could be a good alternative to karyotyping in these pregnancies. Copyright © 2012 ISUOG. Published by John Wiley & Sons, Ltd. |
| doi_str_mv | 10.1002/uog.12372 |
| format | Article |
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Objectives
To assess the frequency of karyotype abnormalities and chromosome 22q11.2 deletion syndrome among fetuses with abnormal cardiac ultrasound findings, and to evaluate the clinical value of chromosomal microarray‐based analysis (CMA) in the study of such pregnancies.
Methods
First, we carried out retrospective analysis of karyotype abnormalities and 22q11.2 deletion syndrome cases diagnosed between January 2009 and December 2011 in our center among fetuses with abnormal cardiac ultrasound findings (n = 276). Second, CMA was performed in 51 of the fetuses with such findings, normal karyotype and negative or no 22q11.2 deletion syndrome study, and in the only fetus with a heart defect and an apparently balanced de novo chromosomal rearrangement.
Results
Out of the 276 pregnancies with abnormal cardiac ultrasound findings, karyotyping revealed a chromosomal abnormality in 44 (15.9%). Of fetuses with normal karyotype in which 22q11.2 deletion syndrome studies were performed, 6.4% (5/78) had this microdeletion syndrome. Among fetuses with abnormal cardiac findings, normal karyotype and negative or no 22q11.2 deletion syndrome study that underwent CMA, the detection rate of pathogenic copy number variants not detected by conventional cytogenetics was 2.0% (1/51), and no variants of uncertain clinical significance were found. In the fetus with a heart defect and an apparently balanced de novo chromosomal rearrangement, CMA revealed that the rearrangement was not truly balanced.
Conclusions
In the assessment of genetic abnormalities in pregnancies with abnormal cardiac ultrasound findings, the diagnostic yield may be increased by 2% if CMA is used as a complementary tool to conventional cytogenetics. Our results suggest that CMA could be a good alternative to karyotyping in these pregnancies. Copyright © 2012 ISUOG. Published by John Wiley & Sons, Ltd.</description><identifier>ISSN: 0960-7692</identifier><identifier>EISSN: 1469-0705</identifier><identifier>DOI: 10.1002/uog.12372</identifier><identifier>PMID: 23233332</identifier><identifier>CODEN: UOGYFJ</identifier><language>eng</language><publisher>Chichester, UK: John Wiley & Sons, Ltd</publisher><subject>6q deletion ; Abnormal Karyotype ; CHD7 gene ; chromosomal microarray‐based analysis ; chromosome 22q11.2 deletion syndrome ; Chromosome Aberrations ; Chromosome deletion ; Chromosome Disorders - diagnosis ; Chromosome Disorders - genetics ; congenital heart defects ; DiGeorge Syndrome - genetics ; Echocardiography ; Female ; Fetal Diseases - diagnosis ; Fetal Diseases - genetics ; Genetic Testing - methods ; Humans ; karyotype ; Karyotyping ; Microarray Analysis - methods ; Pregnancy ; Prenatal Diagnosis - methods ; Retrospective Studies</subject><ispartof>Ultrasound in obstetrics & gynecology, 2013-04, Vol.41 (4), p.375-382</ispartof><rights>Copyright © 2012 ISUOG. Published by John Wiley & Sons, Ltd.</rights><rights>Copyright © 2013 ISUOG. Published by John Wiley & Sons, Ltd.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4212-9fe50de743fa96025a1d5be9f6a0005f81907e04b0625cc49db658d3026f1b403</citedby><cites>FETCH-LOGICAL-c4212-9fe50de743fa96025a1d5be9f6a0005f81907e04b0625cc49db658d3026f1b403</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%2Fuog.12372$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fuog.12372$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>315,782,786,1419,1435,27931,27932,45581,45582,46416,46840</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/23233332$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Mademont‐Soler, I.</creatorcontrib><creatorcontrib>Morales, C.</creatorcontrib><creatorcontrib>Soler, A.</creatorcontrib><creatorcontrib>MartÍnez‐Crespo, J. M.</creatorcontrib><creatorcontrib>Shen, Y.</creatorcontrib><creatorcontrib>Margarit, E.</creatorcontrib><creatorcontrib>Clusellas, N.</creatorcontrib><creatorcontrib>Obón, M.</creatorcontrib><creatorcontrib>Wu, B.‐L.</creatorcontrib><creatorcontrib>Sánchez, A.</creatorcontrib><title>Prenatal diagnosis of chromosomal abnormalities in fetuses with abnormal cardiac ultrasound findings: evaluation of chromosomal microarray‐based analysis</title><title>Ultrasound in obstetrics & gynecology</title><addtitle>Ultrasound Obstet Gynecol</addtitle><description>ABSTRACT
Objectives
To assess the frequency of karyotype abnormalities and chromosome 22q11.2 deletion syndrome among fetuses with abnormal cardiac ultrasound findings, and to evaluate the clinical value of chromosomal microarray‐based analysis (CMA) in the study of such pregnancies.
Methods
First, we carried out retrospective analysis of karyotype abnormalities and 22q11.2 deletion syndrome cases diagnosed between January 2009 and December 2011 in our center among fetuses with abnormal cardiac ultrasound findings (n = 276). Second, CMA was performed in 51 of the fetuses with such findings, normal karyotype and negative or no 22q11.2 deletion syndrome study, and in the only fetus with a heart defect and an apparently balanced de novo chromosomal rearrangement.
Results
Out of the 276 pregnancies with abnormal cardiac ultrasound findings, karyotyping revealed a chromosomal abnormality in 44 (15.9%). Of fetuses with normal karyotype in which 22q11.2 deletion syndrome studies were performed, 6.4% (5/78) had this microdeletion syndrome. Among fetuses with abnormal cardiac findings, normal karyotype and negative or no 22q11.2 deletion syndrome study that underwent CMA, the detection rate of pathogenic copy number variants not detected by conventional cytogenetics was 2.0% (1/51), and no variants of uncertain clinical significance were found. In the fetus with a heart defect and an apparently balanced de novo chromosomal rearrangement, CMA revealed that the rearrangement was not truly balanced.
Conclusions
In the assessment of genetic abnormalities in pregnancies with abnormal cardiac ultrasound findings, the diagnostic yield may be increased by 2% if CMA is used as a complementary tool to conventional cytogenetics. Our results suggest that CMA could be a good alternative to karyotyping in these pregnancies. Copyright © 2012 ISUOG. Published by John Wiley & Sons, Ltd.</description><subject>6q deletion</subject><subject>Abnormal Karyotype</subject><subject>CHD7 gene</subject><subject>chromosomal microarray‐based analysis</subject><subject>chromosome 22q11.2 deletion syndrome</subject><subject>Chromosome Aberrations</subject><subject>Chromosome deletion</subject><subject>Chromosome Disorders - diagnosis</subject><subject>Chromosome Disorders - genetics</subject><subject>congenital heart defects</subject><subject>DiGeorge Syndrome - genetics</subject><subject>Echocardiography</subject><subject>Female</subject><subject>Fetal Diseases - diagnosis</subject><subject>Fetal Diseases - genetics</subject><subject>Genetic Testing - methods</subject><subject>Humans</subject><subject>karyotype</subject><subject>Karyotyping</subject><subject>Microarray Analysis - methods</subject><subject>Pregnancy</subject><subject>Prenatal Diagnosis - methods</subject><subject>Retrospective Studies</subject><issn>0960-7692</issn><issn>1469-0705</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2013</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkc9qFTEUh4Mo9lpd-AIScKOLaU_-zh13UmoVCnVh18OZSXKbMpPUZNJydz6C-76dT2LsrV0UxGxy4Hx85JcfIa8ZHDAAflji5oBx0fInZMWk7hpoQT0lK-g0NK3u-B55kfMlAGgp9HOyxwUX9fAVuf2abMAFJ2o8bkLMPtPo6HiR4hxznOsChxBTHfzibaY-UGeXkut445eLhy0dMVXFSMu0JMyxBEOdD8aHTf5A7TVOBRcfw2P77McUMSXc_vrxc8BsDcWA07Y-5CV55nDK9tX9vU_OPx1_O_rcnJ6dfDn6eNqMkjPedM4qMLaVwmENzBUyowbbOY01sXJr1kFrQQ6guRpH2ZlBq7URwLVjgwSxT97tvFcpfi82L_3s82inCYONJfdMCllhztv_o4ID03Ldqoq-fYRexpJqtDuKMyVY21Xq_Y6qv5Bzsq6_Sn7GtO0Z9H_K7Wu5_V25lX1zbyzDbM0D-bfNChzugBs_2e2_Tf352clO-RtGN7G4</recordid><startdate>201304</startdate><enddate>201304</enddate><creator>Mademont‐Soler, I.</creator><creator>Morales, C.</creator><creator>Soler, A.</creator><creator>MartÍnez‐Crespo, J. M.</creator><creator>Shen, Y.</creator><creator>Margarit, E.</creator><creator>Clusellas, N.</creator><creator>Obón, M.</creator><creator>Wu, B.‐L.</creator><creator>Sánchez, A.</creator><general>John Wiley & Sons, Ltd</general><general>Wiley Subscription Services, Inc</general><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>7QO</scope><scope>8FD</scope><scope>FR3</scope><scope>K9.</scope><scope>P64</scope><scope>7X8</scope><scope>RC3</scope></search><sort><creationdate>201304</creationdate><title>Prenatal diagnosis of chromosomal abnormalities in fetuses with abnormal cardiac ultrasound findings: evaluation of chromosomal microarray‐based analysis</title><author>Mademont‐Soler, I. ; Morales, C. ; Soler, A. ; MartÍnez‐Crespo, J. M. ; Shen, Y. ; Margarit, E. ; Clusellas, N. ; Obón, M. ; Wu, B.‐L. ; Sánchez, A.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4212-9fe50de743fa96025a1d5be9f6a0005f81907e04b0625cc49db658d3026f1b403</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2013</creationdate><topic>6q deletion</topic><topic>Abnormal Karyotype</topic><topic>CHD7 gene</topic><topic>chromosomal microarray‐based analysis</topic><topic>chromosome 22q11.2 deletion syndrome</topic><topic>Chromosome Aberrations</topic><topic>Chromosome deletion</topic><topic>Chromosome Disorders - diagnosis</topic><topic>Chromosome Disorders - genetics</topic><topic>congenital heart defects</topic><topic>DiGeorge Syndrome - genetics</topic><topic>Echocardiography</topic><topic>Female</topic><topic>Fetal Diseases - diagnosis</topic><topic>Fetal Diseases - genetics</topic><topic>Genetic Testing - methods</topic><topic>Humans</topic><topic>karyotype</topic><topic>Karyotyping</topic><topic>Microarray Analysis - methods</topic><topic>Pregnancy</topic><topic>Prenatal Diagnosis - methods</topic><topic>Retrospective Studies</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Mademont‐Soler, I.</creatorcontrib><creatorcontrib>Morales, C.</creatorcontrib><creatorcontrib>Soler, A.</creatorcontrib><creatorcontrib>MartÍnez‐Crespo, J. M.</creatorcontrib><creatorcontrib>Shen, Y.</creatorcontrib><creatorcontrib>Margarit, E.</creatorcontrib><creatorcontrib>Clusellas, N.</creatorcontrib><creatorcontrib>Obón, M.</creatorcontrib><creatorcontrib>Wu, B.‐L.</creatorcontrib><creatorcontrib>Sánchez, A.</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Biotechnology Research Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>MEDLINE - Academic</collection><collection>Genetics Abstracts</collection><jtitle>Ultrasound in obstetrics & gynecology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Mademont‐Soler, I.</au><au>Morales, C.</au><au>Soler, A.</au><au>MartÍnez‐Crespo, J. M.</au><au>Shen, Y.</au><au>Margarit, E.</au><au>Clusellas, N.</au><au>Obón, M.</au><au>Wu, B.‐L.</au><au>Sánchez, A.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Prenatal diagnosis of chromosomal abnormalities in fetuses with abnormal cardiac ultrasound findings: evaluation of chromosomal microarray‐based analysis</atitle><jtitle>Ultrasound in obstetrics & gynecology</jtitle><addtitle>Ultrasound Obstet Gynecol</addtitle><date>2013-04</date><risdate>2013</risdate><volume>41</volume><issue>4</issue><spage>375</spage><epage>382</epage><pages>375-382</pages><issn>0960-7692</issn><eissn>1469-0705</eissn><coden>UOGYFJ</coden><abstract>ABSTRACT
Objectives
To assess the frequency of karyotype abnormalities and chromosome 22q11.2 deletion syndrome among fetuses with abnormal cardiac ultrasound findings, and to evaluate the clinical value of chromosomal microarray‐based analysis (CMA) in the study of such pregnancies.
Methods
First, we carried out retrospective analysis of karyotype abnormalities and 22q11.2 deletion syndrome cases diagnosed between January 2009 and December 2011 in our center among fetuses with abnormal cardiac ultrasound findings (n = 276). Second, CMA was performed in 51 of the fetuses with such findings, normal karyotype and negative or no 22q11.2 deletion syndrome study, and in the only fetus with a heart defect and an apparently balanced de novo chromosomal rearrangement.
Results
Out of the 276 pregnancies with abnormal cardiac ultrasound findings, karyotyping revealed a chromosomal abnormality in 44 (15.9%). Of fetuses with normal karyotype in which 22q11.2 deletion syndrome studies were performed, 6.4% (5/78) had this microdeletion syndrome. Among fetuses with abnormal cardiac findings, normal karyotype and negative or no 22q11.2 deletion syndrome study that underwent CMA, the detection rate of pathogenic copy number variants not detected by conventional cytogenetics was 2.0% (1/51), and no variants of uncertain clinical significance were found. In the fetus with a heart defect and an apparently balanced de novo chromosomal rearrangement, CMA revealed that the rearrangement was not truly balanced.
Conclusions
In the assessment of genetic abnormalities in pregnancies with abnormal cardiac ultrasound findings, the diagnostic yield may be increased by 2% if CMA is used as a complementary tool to conventional cytogenetics. Our results suggest that CMA could be a good alternative to karyotyping in these pregnancies. Copyright © 2012 ISUOG. Published by John Wiley & Sons, Ltd.</abstract><cop>Chichester, UK</cop><pub>John Wiley & Sons, Ltd</pub><pmid>23233332</pmid><doi>10.1002/uog.12372</doi><tpages>8</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | 6q deletion Abnormal Karyotype CHD7 gene chromosomal microarray‐based analysis chromosome 22q11.2 deletion syndrome Chromosome Aberrations Chromosome deletion Chromosome Disorders - diagnosis Chromosome Disorders - genetics congenital heart defects DiGeorge Syndrome - genetics Echocardiography Female Fetal Diseases - diagnosis Fetal Diseases - genetics Genetic Testing - methods Humans karyotype Karyotyping Microarray Analysis - methods Pregnancy Prenatal Diagnosis - methods Retrospective Studies |
| title | Prenatal diagnosis of chromosomal abnormalities in fetuses with abnormal cardiac ultrasound findings: evaluation of chromosomal microarray‐based analysis |
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