Acardia: Epidemiologic findings and literature review from the International Clearinghouse for Birth Defects Surveillance and Research
Identifieur interne : 002A20 ( Istex/Corpus ); précédent : 002A19; suivant : 002A21Acardia: Epidemiologic findings and literature review from the International Clearinghouse for Birth Defects Surveillance and Research
Auteurs : Lorenzo D. Botto ; Marcia L. Feldkamp ; Emmanuelle Amar ; John C. Carey ; Eduardo E. Castilla ; Maurizio Clementi ; Guido Cocchi ; Hermien E. K. De Walle ; Jane Halliday ; Emanuele Leoncini ; Zhu Li ; R. Brian Lowry ; Lisa K. Marengo ; María-Luisa Martínez-Frías ; Paul Merlob ; Margery Morgan ; Leonora Luna Mu Oz ; Anke Rissmann ; Annukka Ritvanen ; Gioacchino Scarano ; Pierpaolo MastroiacovoSource :
- American Journal of Medical Genetics Part C: Seminars in Medical Genetics [ 1552-4868 ] ; 2011-11-15.
English descriptors
- KwdEn :
- Acardia, Acardiac, Acardiac twins, Acardius, Acardius acormus, Acephalus, American journal, Anastomosis, Anomaly, Arterial perfusion, Arterial perfusion sequence, Article american journal, Birth defects, Birth defects surveillance, Case report, Case reports, Case series, Cephalic, Cephalic structures, Chromosomal, Chromosomal anomalies, Clearinghouse, Congenitas, Current literature, Defect, Ecemc, Eclamc, Epidemiologic, Epidemiology, Estudio colaborativo, Etopfas, Fetal, Fetal anomaly, Fetus, Genet, Genet part, Genetic testing, Genetics, Grant sponsor, Guimaraes, Guimaraes filho, International clearinghouse, Literature review, Malformaciones, Malformaciones congenitas, Malformation, Medical genetics, Medical genetics part, Monozygotic, Monozygotic twinning, Monozygotic twins, National center, Ndings, Obstet, Pathogenesis, Pearson correlation, Perfusion, Phelan, Phenotype, Placental, Pregnancy, Pregnancy terminations, Prevalence, Rare defects, Salt lake city, Salud carlos, Second event, Stillbirth, Striking phenotype, Structural malformations, Surveillance programs, Syndrome, Third hypothesis, Total prevalence, Triplet, Trisomy, Twinning, Upper limbs.
- Teeft :
- Acardia, Acardiac, Acardiac twins, Acardius, Acardius acormus, Acephalus, American journal, Anastomosis, Anomaly, Arterial perfusion, Arterial perfusion sequence, Article american journal, Birth defects, Birth defects surveillance, Case report, Case reports, Case series, Cephalic, Cephalic structures, Chromosomal, Chromosomal anomalies, Clearinghouse, Congenitas, Current literature, Defect, Ecemc, Eclamc, Epidemiologic, Epidemiology, Estudio colaborativo, Etopfas, Fetal, Fetal anomaly, Fetus, Genet, Genet part, Genetic testing, Genetics, Grant sponsor, Guimaraes, Guimaraes filho, International clearinghouse, Literature review, Malformaciones, Malformaciones congenitas, Malformation, Medical genetics, Medical genetics part, Monozygotic, Monozygotic twinning, Monozygotic twins, National center, Ndings, Obstet, Pathogenesis, Pearson correlation, Perfusion, Phelan, Phenotype, Placental, Pregnancy, Pregnancy terminations, Prevalence, Rare defects, Salt lake city, Salud carlos, Second event, Stillbirth, Striking phenotype, Structural malformations, Surveillance programs, Syndrome, Third hypothesis, Total prevalence, Triplet, Trisomy, Twinning, Upper limbs.
Abstract
Acardia is a severe, complex malformation of monozygotic twinning, but beyond clinical case series, very few epidemiologic data are available. The goals of this study were to assess the epidemiologic characteristics of acardia from birth defect registries in the International Clearinghouse for Birth Defects Surveillance and Research (Clearinghouse), and compare these findings to current literature. The study included 17 surveillance programs of the Clearinghouse representing 23 countries from North and South America, Europe, China, and Australia. Anonymized individual records with clinical and demographic data were reviewed centrally by clinical geneticists. A literature search was performed. A total of 164 cases of acardia were reported from an underlying cohort of 21.2 million births. Of these, 23% were elective pregnancy terminations. Rates did not vary significantly by maternal age. For many cases, information on pregnancy exposures and genetic testing was missing. However, these limited data did not suggest high rates of chronic illnesses (diabetes, seizure disorders) or lifestyle factors such as smoking. One case had trisomy 13. Major malformations were reported in 2.4% of co‐twins. With some basic assumptions, the total prevalence of acardia was estimated at 1 in 50,000–70,000 births, and 1 in 200–280 monozygotic twins. In summary, acardia is a dramatic, probably underreported, and incompletely understood malformation. Studies on its epidemiology and etiology are challenging and still rare. An international collaboration of epidemiologists, clinicians, and geneticists is necessary to understand the etiology, pathogenesis, and occurrence of this severe malformation complex. © 2011 Wiley Periodicals, Inc.
Url:
DOI: 10.1002/ajmg.c.30318
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<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Acardia: Epidemiologic findings and literature review from the International Clearinghouse for Birth Defects Surveillance and Research</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, Department of Pediatrics, University of Utah Health Sciences Center, 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>E-mail: lorenzo.botto@hsc.utah.edu</mods:affiliation></affiliation><affiliation><mods:affiliation>Correspondence address: Division of Medical Genetics, Department of Pediatrics, University of Utah Health Sciences Center, 2C412 SOM, 50 North Medical Drive, Salt Lake City, UT 84132.</mods:affiliation></affiliation></author><author><name sortKey="Feldkamp, Marcia L" sort="Feldkamp, Marcia L" uniqKey="Feldkamp M" first="Marcia L." last="Feldkamp">Marcia L. Feldkamp</name><affiliation><mods:affiliation>Division of Medical Genetics, Department of Pediatrics, University of Utah Health Sciences Center, 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></author><author><name sortKey="Amar, Emmanuelle" sort="Amar, Emmanuelle" uniqKey="Amar E" first="Emmanuelle" last="Amar">Emmanuelle Amar</name><affiliation><mods:affiliation>Rhone‐Alps Registry of Birth Defects REMERA, Lyon, France</mods:affiliation></affiliation></author><author><name sortKey="Carey, John C" sort="Carey, John C" uniqKey="Carey J" first="John C." last="Carey">John C. Carey</name><affiliation><mods:affiliation>Division of Medical Genetics, Department of Pediatrics, University of Utah Health Sciences Center, 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></author><author><name sortKey="Castilla, Eduardo E" sort="Castilla, Eduardo E" uniqKey="Castilla E" first="Eduardo E." last="Castilla">Eduardo E. Castilla</name><affiliation><mods:affiliation>INAGEMP (Instituto Nacional de Genética Médica Populacional), Brazil</mods:affiliation></affiliation><affiliation><mods:affiliation>ECLAMC (Estudio Colaborativo Latino Americano de Malformaciones Congénitas) at Instituto Oswaldo Cruz, Fundação Oswaldo Cruz, Rio de Janeiro, Brazil</mods:affiliation></affiliation><affiliation><mods:affiliation>CEMIC (Centro de Estudios Médicos e Investigaciones Clínicas), Buenos Aires, Argentina</mods:affiliation></affiliation></author><author><name sortKey="Clementi, Maurizio" sort="Clementi, Maurizio" uniqKey="Clementi M" first="Maurizio" last="Clementi">Maurizio Clementi</name><affiliation><mods:affiliation>Department of Pediatrics, University of Padua, Clinical Genetics Unit, Padua, Italy</mods:affiliation></affiliation></author><author><name sortKey="Cocchi, Guido" sort="Cocchi, Guido" uniqKey="Cocchi G" first="Guido" last="Cocchi">Guido Cocchi</name><affiliation><mods:affiliation>IMER Registry, Department of Pediatrics, Bologna University, Bologna, Italy</mods:affiliation></affiliation></author><author><name sortKey="De Walle, Hermien E K" sort="De Walle, Hermien E K" uniqKey="De Walle H" first="Hermien E. 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De Walle</name><affiliation><mods:affiliation>Eurocat Northern Netherlands, Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands</mods:affiliation></affiliation></author><author><name sortKey="Halliday, Jane" sort="Halliday, Jane" uniqKey="Halliday J" first="Jane" last="Halliday">Jane Halliday</name><affiliation><mods:affiliation>Public Health Genetics, Laboratory and Community Genetics, Murdoch Childrens Research Institute, The Royal Children's Hospital, Parkville, Victoria, Australia, formerly Victorian Birth Defects Register, Victoria, Australia</mods:affiliation></affiliation></author><author><name sortKey="Leoncini, Emanuele" sort="Leoncini, Emanuele" uniqKey="Leoncini E" first="Emanuele" last="Leoncini">Emanuele Leoncini</name><affiliation><mods:affiliation>Centre of the International Clearinghouse for Birth Defects Surveillance and Research, Rome, Italy</mods:affiliation></affiliation></author><author><name sortKey="Li, Zhu" sort="Li, Zhu" uniqKey="Li Z" first="Zhu" last="Li">Zhu Li</name><affiliation><mods:affiliation>National Center for Maternal and Infant Health, Peking University Health Science Center, Beijing, People's Republic of China</mods:affiliation></affiliation></author><author><name sortKey="Lowry, R Brian" sort="Lowry, R Brian" uniqKey="Lowry R" first="R. Brian" last="Lowry">R. Brian Lowry</name><affiliation><mods:affiliation>Alberta Congenital Anomalies Surveillance System, Alberta Health & Wellness, Calgary, Alberta, Canada</mods:affiliation></affiliation></author><author><name sortKey="Marengo, Lisa K" sort="Marengo, Lisa K" uniqKey="Marengo L" first="Lisa K." last="Marengo">Lisa K. Marengo</name><affiliation><mods:affiliation>Birth Defects Epidemiology and Surveillance Branch, Texas Department of State Health Services, Texas</mods:affiliation></affiliation></author><author><name sortKey="Martinez Rias, Maria Uisa" sort="Martinez Rias, Maria Uisa" uniqKey="Martinez Rias M" first="María-Luisa" last="Martínez-Frías">María-Luisa Martínez-Frías</name><affiliation><mods:affiliation>ECEMC (Spanish Collaborative Study of Congenital Malformations), Centro de Investigación sobre Anomalías Congénitas (CIAC), Instituto de Salud Carlos III (ISCIII), Madrid, Spain</mods:affiliation></affiliation><affiliation><mods:affiliation>CIBER de Enfermedades Raras (CIBERER) (Centre for Biomedical Research on Rare Diseases), Madrid, Spain</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Pharmacology, Faculty of Medicine, Universidad Complutense de Madrid, Spain</mods:affiliation></affiliation></author><author><name sortKey="Merlob, Paul" sort="Merlob, Paul" uniqKey="Merlob P" first="Paul" last="Merlob">Paul Merlob</name><affiliation><mods:affiliation>Rabin Medical Center, Petah Tiqva and Tel‐Aviv University, Israel</mods:affiliation></affiliation></author><author><name sortKey="Morgan, Margery" sort="Morgan, Margery" uniqKey="Morgan M" first="Margery" last="Morgan">Margery Morgan</name><affiliation><mods:affiliation>CARIS, the Congenital Anomaly and Register for Wales, Singleton Hospital, Swansea, United Kingdom</mods:affiliation></affiliation></author><author><name sortKey="Mu Oz, Leonora Luna" sort="Mu Oz, Leonora Luna" uniqKey="Mu Oz L" first="Leonora Luna" last="Mu Oz">Leonora Luna Mu Oz</name><affiliation><mods:affiliation>Departamento de Genética, RYVEMCE, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, México City, México</mods:affiliation></affiliation></author><author><name sortKey="Rissmann, Anke" sort="Rissmann, Anke" uniqKey="Rissmann A" first="Anke" last="Rissmann">Anke Rissmann</name><affiliation><mods:affiliation>Malformation Monitoring Centre Saxony‐Anhalt, Medical Faculty Otto‐von‐Guericke University Magdeburg, Germany</mods:affiliation></affiliation></author><author><name sortKey="Ritvanen, Annukka" sort="Ritvanen, Annukka" uniqKey="Ritvanen A" first="Annukka" last="Ritvanen">Annukka Ritvanen</name><affiliation><mods:affiliation>The Finnish Register of Congenital Malformations, National Institute for Health and Welfare, THL, Helsinki, Finland</mods:affiliation></affiliation></author><author><name sortKey="Scarano, Gioacchino" sort="Scarano, Gioacchino" uniqKey="Scarano G" first="Gioacchino" last="Scarano">Gioacchino Scarano</name><affiliation><mods:affiliation>Birth Defects Campania Registry, Medical Genetics Dept, General Hospital “G. Rummo” Benevento, Italy</mods:affiliation></affiliation></author><author><name sortKey="Mastroiacovo, Pierpaolo" sort="Mastroiacovo, Pierpaolo" uniqKey="Mastroiacovo P" first="Pierpaolo" last="Mastroiacovo">Pierpaolo Mastroiacovo</name><affiliation><mods:affiliation>Centre of the International Clearinghouse for Birth Defects Surveillance and Research, Rome, Italy</mods:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:E19115E0D112A485E02099F97527ECDD69CF75AF</idno><date when="2011" year="2011">2011</date><idno type="doi">10.1002/ajmg.c.30318</idno><idno type="url">https://api.istex.fr/document/E19115E0D112A485E02099F97527ECDD69CF75AF/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">002A20</idno><idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Corpus" wicri:corpus="ISTEX">002A20</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Acardia: Epidemiologic findings and literature review from the International Clearinghouse for Birth Defects Surveillance and Research<ref type="note" target="#fn1"></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, Department of Pediatrics, University of Utah Health Sciences Center, 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>E-mail: lorenzo.botto@hsc.utah.edu</mods:affiliation></affiliation><affiliation><mods:affiliation>Correspondence address: Division of Medical Genetics, Department of Pediatrics, University of Utah Health Sciences Center, 2C412 SOM, 50 North Medical Drive, Salt Lake City, UT 84132.</mods:affiliation></affiliation></author><author><name sortKey="Feldkamp, Marcia L" sort="Feldkamp, Marcia L" uniqKey="Feldkamp M" first="Marcia L." last="Feldkamp">Marcia L. Feldkamp</name><affiliation><mods:affiliation>Division of Medical Genetics, Department of Pediatrics, University of Utah Health Sciences Center, 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></author><author><name sortKey="Amar, Emmanuelle" sort="Amar, Emmanuelle" uniqKey="Amar E" first="Emmanuelle" last="Amar">Emmanuelle Amar</name><affiliation><mods:affiliation>Rhone‐Alps Registry of Birth Defects REMERA, Lyon, France</mods:affiliation></affiliation></author><author><name sortKey="Carey, John C" sort="Carey, John C" uniqKey="Carey J" first="John C." last="Carey">John C. Carey</name><affiliation><mods:affiliation>Division of Medical Genetics, Department of Pediatrics, University of Utah Health Sciences Center, 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></author><author><name sortKey="Castilla, Eduardo E" sort="Castilla, Eduardo E" uniqKey="Castilla E" first="Eduardo E." last="Castilla">Eduardo E. Castilla</name><affiliation><mods:affiliation>INAGEMP (Instituto Nacional de Genética Médica Populacional), Brazil</mods:affiliation></affiliation><affiliation><mods:affiliation>ECLAMC (Estudio Colaborativo Latino Americano de Malformaciones Congénitas) at Instituto Oswaldo Cruz, Fundação Oswaldo Cruz, Rio de Janeiro, Brazil</mods:affiliation></affiliation><affiliation><mods:affiliation>CEMIC (Centro de Estudios Médicos e Investigaciones Clínicas), Buenos Aires, Argentina</mods:affiliation></affiliation></author><author><name sortKey="Clementi, Maurizio" sort="Clementi, Maurizio" uniqKey="Clementi M" first="Maurizio" last="Clementi">Maurizio Clementi</name><affiliation><mods:affiliation>Department of Pediatrics, University of Padua, Clinical Genetics Unit, Padua, Italy</mods:affiliation></affiliation></author><author><name sortKey="Cocchi, Guido" sort="Cocchi, Guido" uniqKey="Cocchi G" first="Guido" last="Cocchi">Guido Cocchi</name><affiliation><mods:affiliation>IMER Registry, Department of Pediatrics, Bologna University, Bologna, Italy</mods:affiliation></affiliation></author><author><name sortKey="De Walle, Hermien E K" sort="De Walle, Hermien E K" uniqKey="De Walle H" first="Hermien E. K." last="De Walle">Hermien E. K. De Walle</name><affiliation><mods:affiliation>Eurocat Northern Netherlands, Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands</mods:affiliation></affiliation></author><author><name sortKey="Halliday, Jane" sort="Halliday, Jane" uniqKey="Halliday J" first="Jane" last="Halliday">Jane Halliday</name><affiliation><mods:affiliation>Public Health Genetics, Laboratory and Community Genetics, Murdoch Childrens Research Institute, The Royal Children's Hospital, Parkville, Victoria, Australia, formerly Victorian Birth Defects Register, Victoria, Australia</mods:affiliation></affiliation></author><author><name sortKey="Leoncini, Emanuele" sort="Leoncini, Emanuele" uniqKey="Leoncini E" first="Emanuele" last="Leoncini">Emanuele Leoncini</name><affiliation><mods:affiliation>Centre of the International Clearinghouse for Birth Defects Surveillance and Research, Rome, Italy</mods:affiliation></affiliation></author><author><name sortKey="Li, Zhu" sort="Li, Zhu" uniqKey="Li Z" first="Zhu" last="Li">Zhu Li</name><affiliation><mods:affiliation>National Center for Maternal and Infant Health, Peking University Health Science Center, Beijing, People's Republic of China</mods:affiliation></affiliation></author><author><name sortKey="Lowry, R Brian" sort="Lowry, R Brian" uniqKey="Lowry R" first="R. Brian" last="Lowry">R. Brian Lowry</name><affiliation><mods:affiliation>Alberta Congenital Anomalies Surveillance System, Alberta Health & Wellness, Calgary, Alberta, Canada</mods:affiliation></affiliation></author><author><name sortKey="Marengo, Lisa K" sort="Marengo, Lisa K" uniqKey="Marengo L" first="Lisa K." last="Marengo">Lisa K. Marengo</name><affiliation><mods:affiliation>Birth Defects Epidemiology and Surveillance Branch, Texas Department of State Health Services, Texas</mods:affiliation></affiliation></author><author><name sortKey="Martinez Rias, Maria Uisa" sort="Martinez Rias, Maria Uisa" uniqKey="Martinez Rias M" first="María-Luisa" last="Martínez-Frías">María-Luisa Martínez-Frías</name><affiliation><mods:affiliation>ECEMC (Spanish Collaborative Study of Congenital Malformations), Centro de Investigación sobre Anomalías Congénitas (CIAC), Instituto de Salud Carlos III (ISCIII), Madrid, Spain</mods:affiliation></affiliation><affiliation><mods:affiliation>CIBER de Enfermedades Raras (CIBERER) (Centre for Biomedical Research on Rare Diseases), Madrid, Spain</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Pharmacology, Faculty of Medicine, Universidad Complutense de Madrid, Spain</mods:affiliation></affiliation></author><author><name sortKey="Merlob, Paul" sort="Merlob, Paul" uniqKey="Merlob P" first="Paul" last="Merlob">Paul Merlob</name><affiliation><mods:affiliation>Rabin Medical Center, Petah Tiqva and Tel‐Aviv University, Israel</mods:affiliation></affiliation></author><author><name sortKey="Morgan, Margery" sort="Morgan, Margery" uniqKey="Morgan M" first="Margery" last="Morgan">Margery Morgan</name><affiliation><mods:affiliation>CARIS, the Congenital Anomaly and Register for Wales, Singleton Hospital, Swansea, United Kingdom</mods:affiliation></affiliation></author><author><name sortKey="Mu Oz, Leonora Luna" sort="Mu Oz, Leonora Luna" uniqKey="Mu Oz L" first="Leonora Luna" last="Mu Oz">Leonora Luna Mu Oz</name><affiliation><mods:affiliation>Departamento de Genética, RYVEMCE, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, México City, México</mods:affiliation></affiliation></author><author><name sortKey="Rissmann, Anke" sort="Rissmann, Anke" uniqKey="Rissmann A" first="Anke" last="Rissmann">Anke Rissmann</name><affiliation><mods:affiliation>Malformation Monitoring Centre Saxony‐Anhalt, Medical Faculty Otto‐von‐Guericke University Magdeburg, Germany</mods:affiliation></affiliation></author><author><name sortKey="Ritvanen, Annukka" sort="Ritvanen, Annukka" uniqKey="Ritvanen A" first="Annukka" last="Ritvanen">Annukka Ritvanen</name><affiliation><mods:affiliation>The Finnish Register of Congenital Malformations, National Institute for Health and Welfare, THL, Helsinki, Finland</mods:affiliation></affiliation></author><author><name sortKey="Scarano, Gioacchino" sort="Scarano, Gioacchino" uniqKey="Scarano G" first="Gioacchino" last="Scarano">Gioacchino Scarano</name><affiliation><mods:affiliation>Birth Defects Campania Registry, Medical Genetics Dept, General Hospital “G. Rummo” Benevento, Italy</mods:affiliation></affiliation></author><author><name sortKey="Mastroiacovo, Pierpaolo" sort="Mastroiacovo, Pierpaolo" uniqKey="Mastroiacovo P" first="Pierpaolo" last="Mastroiacovo">Pierpaolo Mastroiacovo</name><affiliation><mods:affiliation>Centre of the International Clearinghouse for Birth Defects Surveillance and Research, Rome, Italy</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j" type="main">American Journal of Medical Genetics Part C: Seminars in Medical Genetics</title><title level="j" type="sub">Very Rare Defects: What Can We Learn?</title><title level="j" type="alt">AMERICAN JOURNAL OF MEDICAL GENETICS PART C: SEMINARS IN MEDICAL GENETICS</title><idno type="ISSN">1552-4868</idno><idno type="eISSN">1552-4876</idno><imprint><biblScope unit="vol">157</biblScope><biblScope unit="issue">4</biblScope><biblScope unit="page" from="262">262</biblScope><biblScope unit="page" to="273">273</biblScope><biblScope unit="page-count">12</biblScope><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2011-11-15">2011-11-15</date></imprint><idno type="ISSN">1552-4868</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">1552-4868</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Acardia</term><term>Acardiac</term><term>Acardiac twins</term><term>Acardius</term><term>Acardius acormus</term><term>Acephalus</term><term>American journal</term><term>Anastomosis</term><term>Anomaly</term><term>Arterial perfusion</term><term>Arterial perfusion sequence</term><term>Article american journal</term><term>Birth defects</term><term>Birth defects surveillance</term><term>Case report</term><term>Case reports</term><term>Case series</term><term>Cephalic</term><term>Cephalic structures</term><term>Chromosomal</term><term>Chromosomal 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correlation</term><term>Perfusion</term><term>Phelan</term><term>Phenotype</term><term>Placental</term><term>Pregnancy</term><term>Pregnancy terminations</term><term>Prevalence</term><term>Rare defects</term><term>Salt lake city</term><term>Salud carlos</term><term>Second event</term><term>Stillbirth</term><term>Striking phenotype</term><term>Structural malformations</term><term>Surveillance programs</term><term>Syndrome</term><term>Third hypothesis</term><term>Total prevalence</term><term>Triplet</term><term>Trisomy</term><term>Twinning</term><term>Upper limbs</term></keywords><keywords scheme="Teeft" xml:lang="en"><term>Acardia</term><term>Acardiac</term><term>Acardiac twins</term><term>Acardius</term><term>Acardius acormus</term><term>Acephalus</term><term>American journal</term><term>Anastomosis</term><term>Anomaly</term><term>Arterial perfusion</term><term>Arterial perfusion sequence</term><term>Article american journal</term><term>Birth defects</term><term>Birth defects surveillance</term><term>Case report</term><term>Case reports</term><term>Case series</term><term>Cephalic</term><term>Cephalic structures</term><term>Chromosomal</term><term>Chromosomal anomalies</term><term>Clearinghouse</term><term>Congenitas</term><term>Current literature</term><term>Defect</term><term>Ecemc</term><term>Eclamc</term><term>Epidemiologic</term><term>Epidemiology</term><term>Estudio colaborativo</term><term>Etopfas</term><term>Fetal</term><term>Fetal anomaly</term><term>Fetus</term><term>Genet</term><term>Genet part</term><term>Genetic testing</term><term>Genetics</term><term>Grant sponsor</term><term>Guimaraes</term><term>Guimaraes filho</term><term>International clearinghouse</term><term>Literature review</term><term>Malformaciones</term><term>Malformaciones congenitas</term><term>Malformation</term><term>Medical genetics</term><term>Medical genetics part</term><term>Monozygotic</term><term>Monozygotic twinning</term><term>Monozygotic twins</term><term>National center</term><term>Ndings</term><term>Obstet</term><term>Pathogenesis</term><term>Pearson correlation</term><term>Perfusion</term><term>Phelan</term><term>Phenotype</term><term>Placental</term><term>Pregnancy</term><term>Pregnancy terminations</term><term>Prevalence</term><term>Rare defects</term><term>Salt lake city</term><term>Salud carlos</term><term>Second event</term><term>Stillbirth</term><term>Striking phenotype</term><term>Structural malformations</term><term>Surveillance programs</term><term>Syndrome</term><term>Third hypothesis</term><term>Total prevalence</term><term>Triplet</term><term>Trisomy</term><term>Twinning</term><term>Upper limbs</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Acardia is a severe, complex malformation of monozygotic twinning, but beyond clinical case series, very few epidemiologic data are available. The goals of this study were to assess the epidemiologic characteristics of acardia from birth defect registries in the International Clearinghouse for Birth Defects Surveillance and Research (Clearinghouse), and compare these findings to current literature. The study included 17 surveillance programs of the Clearinghouse representing 23 countries from North and South America, Europe, China, and Australia. Anonymized individual records with clinical and demographic data were reviewed centrally by clinical geneticists. A literature search was performed. A total of 164 cases of acardia were reported from an underlying cohort of 21.2 million births. Of these, 23% were elective pregnancy terminations. Rates did not vary significantly by maternal age. For many cases, information on pregnancy exposures and genetic testing was missing. However, these limited data did not suggest high rates of chronic illnesses (diabetes, seizure disorders) or lifestyle factors such as smoking. One case had trisomy 13. Major malformations were reported in 2.4% of co‐twins. With some basic assumptions, the total prevalence of acardia was estimated at 1 in 50,000–70,000 births, and 1 in 200–280 monozygotic twins. In summary, acardia is a dramatic, probably underreported, and incompletely understood malformation. Studies on its epidemiology and etiology are challenging and still rare. An international collaboration of epidemiologists, clinicians, and geneticists is necessary to understand the etiology, pathogenesis, and occurrence of this severe malformation complex. © 2011 Wiley Periodicals, Inc.</div></front></TEI><istex><corpusName>wiley</corpusName><keywords><teeft><json:string>acardia</json:string><json:string>acardiac</json:string><json:string>malformation</json:string><json:string>genetics</json:string><json:string>total prevalence</json:string><json:string>monozygotic</json:string><json:string>etopfas</json:string><json:string>ndings</json:string><json:string>twinning</json:string><json:string>medical genetics</json:string><json:string>clearinghouse</json:string><json:string>acephalus</json:string><json:string>fetal</json:string><json:string>chromosomal</json:string><json:string>stillbirth</json:string><json:string>chromosomal anomalies</json:string><json:string>medical genetics part</json:string><json:string>anomaly</json:string><json:string>international clearinghouse</json:string><json:string>birth defects surveillance</json:string><json:string>trisomy</json:string><json:string>fetus</json:string><json:string>genet</json:string><json:string>phenotype</json:string><json:string>epidemiology</json:string><json:string>arterial perfusion</json:string><json:string>acardius</json:string><json:string>monozygotic twins</json:string><json:string>triplet</json:string><json:string>eclamc</json:string><json:string>malformaciones</json:string><json:string>acardiac twins</json:string><json:string>cephalic</json:string><json:string>anastomosis</json:string><json:string>phelan</json:string><json:string>perfusion</json:string><json:string>case report</json:string><json:string>obstet</json:string><json:string>placental</json:string><json:string>guimaraes</json:string><json:string>epidemiologic</json:string><json:string>pregnancy terminations</json:string><json:string>ecemc</json:string><json:string>congenitas</json:string><json:string>malformaciones congenitas</json:string><json:string>pathogenesis</json:string><json:string>cephalic structures</json:string><json:string>surveillance programs</json:string><json:string>monozygotic twinning</json:string><json:string>american journal</json:string><json:string>prevalence</json:string><json:string>rare defects</json:string><json:string>arterial perfusion sequence</json:string><json:string>current literature</json:string><json:string>defect</json:string><json:string>pregnancy</json:string><json:string>literature review</json:string><json:string>fetal anomaly</json:string><json:string>article american journal</json:string><json:string>case series</json:string><json:string>genet part</json:string><json:string>syndrome</json:string><json:string>national center</json:string><json:string>birth defects</json:string><json:string>case reports</json:string><json:string>genetic testing</json:string><json:string>striking phenotype</json:string><json:string>salud carlos</json:string><json:string>second event</json:string><json:string>structural malformations</json:string><json:string>grant sponsor</json:string><json:string>salt lake city</json:string><json:string>guimaraes filho</json:string><json:string>pearson correlation</json:string><json:string>acardius acormus</json:string><json:string>estudio colaborativo</json:string><json:string>upper limbs</json:string><json:string>third hypothesis</json:string></teeft></keywords><author><json:item><name>Lorenzo D. Botto</name><affiliations><json:string>Division of Medical Genetics, Department of Pediatrics, University of Utah Health Sciences Center, Salt Lake City, Utah</json:string><json:string>Utah Birth Defect Network, Utah Department of Health, Salt Lake City, Utah</json:string><json:string>E-mail: lorenzo.botto@hsc.utah.edu</json:string><json:string>Correspondence address: Division of Medical Genetics, Department of Pediatrics, University of Utah Health Sciences Center, 2C412 SOM, 50 North Medical Drive, Salt Lake City, UT 84132.</json:string></affiliations></json:item><json:item><name>Marcia L. Feldkamp</name><affiliations><json:string>Division of Medical Genetics, Department of Pediatrics, University of Utah Health Sciences Center, Salt Lake City, Utah</json:string><json:string>Utah Birth Defect Network, Utah Department of Health, Salt Lake City, Utah</json:string></affiliations></json:item><json:item><name>Emmanuelle Amar</name><affiliations><json:string>Rhone‐Alps Registry of Birth Defects REMERA, Lyon, France</json:string></affiliations></json:item><json:item><name>John C. Carey</name><affiliations><json:string>Division of Medical Genetics, Department of Pediatrics, University of Utah Health Sciences Center, Salt Lake City, Utah</json:string><json:string>Utah Birth Defect Network, Utah Department of Health, Salt Lake City, Utah</json:string></affiliations></json:item><json:item><name>Eduardo E. Castilla</name><affiliations><json:string>INAGEMP (Instituto Nacional de Genética Médica Populacional), Brazil</json:string><json:string>ECLAMC (Estudio Colaborativo Latino Americano de Malformaciones Congénitas) at Instituto Oswaldo Cruz, Fundação Oswaldo Cruz, Rio de Janeiro, Brazil</json:string><json:string>CEMIC (Centro de Estudios Médicos e Investigaciones Clínicas), Buenos Aires, Argentina</json:string></affiliations></json:item><json:item><name>Maurizio Clementi</name><affiliations><json:string>Department of Pediatrics, University of Padua, Clinical Genetics Unit, Padua, Italy</json:string></affiliations></json:item><json:item><name>Guido Cocchi</name><affiliations><json:string>IMER Registry, Department of Pediatrics, Bologna University, Bologna, Italy</json:string></affiliations></json:item><json:item><name>Hermien E.K. de Walle</name><affiliations><json:string>Eurocat Northern Netherlands, Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands</json:string></affiliations></json:item><json:item><name>Jane Halliday</name><affiliations><json:string>Public Health Genetics, Laboratory and Community Genetics, Murdoch Childrens Research Institute, The Royal Children's Hospital, Parkville, Victoria, Australia, formerly Victorian Birth Defects Register, Victoria, Australia</json:string></affiliations></json:item><json:item><name>Emanuele Leoncini</name><affiliations><json:string>Centre of the International Clearinghouse for Birth Defects Surveillance and Research, Rome, Italy</json:string></affiliations></json:item><json:item><name>Zhu Li</name><affiliations><json:string>National Center for Maternal and Infant Health, Peking University Health Science Center, Beijing, People's Republic of China</json:string></affiliations></json:item><json:item><name>R. Brian Lowry</name><affiliations><json:string>Alberta Congenital Anomalies Surveillance System, Alberta Health & Wellness, Calgary, Alberta, Canada</json:string></affiliations></json:item><json:item><name>Lisa K. Marengo</name><affiliations><json:string>Birth Defects Epidemiology and Surveillance Branch, Texas Department of State Health Services, Texas</json:string></affiliations></json:item><json:item><name>María‐Luisa Martínez‐Frías</name><affiliations><json:string>ECEMC (Spanish Collaborative Study of Congenital Malformations), Centro de Investigación sobre Anomalías Congénitas (CIAC), Instituto de Salud Carlos III (ISCIII), Madrid, Spain</json:string><json:string>CIBER de Enfermedades Raras (CIBERER) (Centre for Biomedical Research on Rare Diseases), Madrid, Spain</json:string><json:string>Department of Pharmacology, Faculty of Medicine, Universidad Complutense de Madrid, Spain</json:string></affiliations></json:item><json:item><name>Paul Merlob</name><affiliations><json:string>Rabin Medical Center, Petah Tiqva and Tel‐Aviv University, Israel</json:string></affiliations></json:item><json:item><name>Margery Morgan</name><affiliations><json:string>CARIS, the Congenital Anomaly and Register for Wales, Singleton Hospital, Swansea, United Kingdom</json:string></affiliations></json:item><json:item><name>Leonora Luna Muñoz</name><affiliations><json:string>Departamento de Genética, RYVEMCE, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, México City, México</json:string></affiliations></json:item><json:item><name>Anke Rissmann</name><affiliations><json:string>Malformation Monitoring Centre Saxony‐Anhalt, Medical Faculty Otto‐von‐Guericke University Magdeburg, Germany</json:string></affiliations></json:item><json:item><name>Annukka Ritvanen</name><affiliations><json:string>The Finnish Register of Congenital Malformations, National Institute for Health and Welfare, THL, Helsinki, Finland</json:string></affiliations></json:item><json:item><name>Gioacchino Scarano</name><affiliations><json:string>Birth Defects Campania Registry, Medical Genetics Dept, General Hospital “G. Rummo” Benevento, Italy</json:string></affiliations></json:item><json:item><name>Pierpaolo Mastroiacovo</name><affiliations><json:string>Centre of the International Clearinghouse for Birth Defects Surveillance and Research, Rome, Italy</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>acardia</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>acephalus</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>twinning</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>malformation</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>epidemiology</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>TRAP sequence</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>twin reversed‐arterial perfusion sequence</value></json:item></subject><articleId><json:string>AJMG30318</json:string></articleId><arkIstex>ark:/67375/WNG-J6HCWXS1-J</arkIstex><language><json:string>eng</json:string></language><originalGenre><json:string>article</json:string></originalGenre><abstract>Acardia is a severe, complex malformation of monozygotic twinning, but beyond clinical case series, very few epidemiologic data are available. The goals of this study were to assess the epidemiologic characteristics of acardia from birth defect registries in the International Clearinghouse for Birth Defects Surveillance and Research (Clearinghouse), and compare these findings to current literature. The study included 17 surveillance programs of the Clearinghouse representing 23 countries from North and South America, Europe, China, and Australia. Anonymized individual records with clinical and demographic data were reviewed centrally by clinical geneticists. A literature search was performed. A total of 164 cases of acardia were reported from an underlying cohort of 21.2 million births. Of these, 23% were elective pregnancy terminations. Rates did not vary significantly by maternal age. For many cases, information on pregnancy exposures and genetic testing was missing. However, these limited data did not suggest high rates of chronic illnesses (diabetes, seizure disorders) or lifestyle factors such as smoking. One case had trisomy 13. Major malformations were reported in 2.4% of co‐twins. With some basic assumptions, the total prevalence of acardia was estimated at 1 in 50,000–70,000 births, and 1 in 200–280 monozygotic twins. In summary, acardia is a dramatic, probably underreported, and incompletely understood malformation. Studies on its epidemiology and etiology are challenging and still rare. An international collaboration of epidemiologists, clinicians, and geneticists is necessary to understand the etiology, pathogenesis, and occurrence of this severe malformation complex. © 2011 Wiley Periodicals, Inc.</abstract><qualityIndicators><refBibsNative>true</refBibsNative><abstractWordCount>245</abstractWordCount><abstractCharCount>1739</abstractCharCount><keywordCount>7</keywordCount><score>9.94</score><pdfWordCount>6817</pdfWordCount><pdfCharCount>46906</pdfCharCount><pdfVersion>1.3</pdfVersion><pdfPageCount>12</pdfPageCount><pdfPageSize>594 x 792 pts</pdfPageSize></qualityIndicators><title>Acardia: Epidemiologic findings and literature review from the International Clearinghouse for Birth Defects Surveillance and Research</title><pmid><json:string>22002952</json:string></pmid><genre><json:string>article</json:string></genre><host><title>American Journal of Medical Genetics Part C: Seminars in Medical Genetics</title><language><json:string>unknown</json:string></language><doi><json:string>10.1002/(ISSN)1552-4876</json:string></doi><issn><json:string>1552-4868</json:string></issn><eissn><json:string>1552-4876</json:string></eissn><publisherId><json:string>AJMG</json:string></publisherId><volume>157</volume><issue>4</issue><pages><first>262</first><last>273</last><total>12</total></pages><genre><json:string>journal</json:string></genre><author><json:item><name>Eduardo E. 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Botto</json:string><json:string>Peripheral Group</json:string><json:string>Salvador Zubira</json:string><json:string>Alberta Health</json:string><json:string>In</json:string><json:string>The</json:string><json:string>G. Rummo</json:string><json:string>Oswaldo Cruz</json:string></persName><placeName><json:string>Venice</json:string><json:string>Calgary</json:string><json:string>Germany</json:string><json:string>Benevento</json:string><json:string>Finland</json:string><json:string>Australia</json:string><json:string>Beijing</json:string><json:string>Canada</json:string><json:string>Helsinki</json:string><json:string>Victoria</json:string><json:string>American</json:string><json:string>Madrid</json:string><json:string>China</json:string><json:string>Magdeburg</json:string><json:string>Europe</json:string><json:string>America</json:string><json:string>Republic of China</json:string><json:string>Italy</json:string><json:string>Spain</json:string></placeName><ref_url></ref_url><ref_bibl><json:string>Van Allen et al. [1983]</json:string><json:string>Chen et al., 2007</json:string><json:string>Abi-Nader et al., 2009</json:string><json:string>Jones et al., 2008</json:string><json:string>Guimaraes et al., 2011</json:string><json:string>Gupta et al., 2008</json:string><json:string>Wong et al., 2007</json:string><json:string>Chaliha et al., 1999</json:string><json:string>Athwal et al., 2010</json:string><json:string>Lewi et al., 2010</json:string><json:string>Leoncini et al., 2010</json:string><json:string>Pavone et al., 1985</json:string><json:string>Chandramouly and Namitha, 2009</json:string><json:string>Blaicher et al. [2000]</json:string><json:string>Shapiro et al., 1986</json:string><json:string>Wolf et al., 1991</json:string><json:string>Hernandez et al., 2009</json:string><json:string>Morizane et al., 2002</json:string><json:string>Tanawattanacharoen et al., 2004</json:string><json:string>Shapiro et al. [1986]</json:string><json:string>Aoki et al., 2006</json:string><json:string>Martinez-Roman et al., 1995</json:string><json:string>Lattanzi et al., 2006</json:string><json:string>Habbal et al., 2005</json:string><json:string>Kariappa et al., 2007</json:string><json:string>Sullivan et al., 2003</json:string><json:string>Mihci et al., 2009</json:string><json:string>Van Allen et al., 1983</json:string><json:string>Moore et al. [1987]</json:string><json:string>Castilla and Mastroiacovo, 2011</json:string><json:string>Hanley et al., 2007</json:string><json:string>Dahiya et al., 2004</json:string><json:string>Huss et al., 2011</json:string><json:string>Bieber et al. [1981]</json:string><json:string>Bieber et al., 1981</json:string><json:string>Wolf et al. [1991]</json:string><json:string>Phelan and Hall, 2006</json:string><json:string>Blaicher et al., 2000</json:string><json:string>Haring et al., 1993</json:string><json:string>Derom et al., 2006</json:string><json:string>He et al., 2010</json:string><json:string>[2011]</json:string><json:string>Buntinx et al., 1991</json:string><json:string>Jelin et al., 2010</json:string><json:string>Rohilla et al., 2008</json:string><json:string>Chaliha et al. [1999]</json:string><json:string>Guilherme et al., 2009</json:string><json:string>Mihci et al. [2009]</json:string><json:string>Ventura et al., 2011</json:string><json:string>Filho et al., 2007</json:string></ref_bibl><bibl></bibl></unitex></namedEntities><ark><json:string>ark:/67375/WNG-J6HCWXS1-J</json:string></ark><categories><inist><json:string>1 - sciences appliquees, technologies et medecines</json:string><json:string>2 - sciences biologiques et medicales</json:string><json:string>3 - sciences medicales</json:string></inist></categories><publicationDate>2011</publicationDate><copyrightDate>2011</copyrightDate><doi><json:string>10.1002/ajmg.c.30318</json:string></doi><id>E19115E0D112A485E02099F97527ECDD69CF75AF</id><score>1</score><fulltext><json:item><extension>pdf</extension><original>true</original><mimetype>application/pdf</mimetype><uri>https://api.istex.fr/document/E19115E0D112A485E02099F97527ECDD69CF75AF/fulltext/pdf</uri></json:item><json:item><extension>zip</extension><original>false</original><mimetype>application/zip</mimetype><uri>https://api.istex.fr/document/E19115E0D112A485E02099F97527ECDD69CF75AF/fulltext/zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/document/E19115E0D112A485E02099F97527ECDD69CF75AF/fulltext/tei"><teiHeader><fileDesc><titleStmt><title level="a" type="main" xml:lang="en">Acardia: Epidemiologic findings and literature review from the International Clearinghouse for Birth Defects Surveillance and Research<ref type="note" target="#fn1"></ref></title></titleStmt><publicationStmt><authority>ISTEX</authority><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><availability><licence>Copyright © 2011 Wiley Periodicals, Inc.</licence></availability><date type="published" when="2011-11-15"></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">Acardia: Epidemiologic findings and literature review from the International Clearinghouse for Birth Defects Surveillance and Research<ref type="note" target="#fn1"></ref></title><title level="a" type="short" xml:lang="en">AMERICAN JOURNAL OF MEDICAL GENETICS PART C (SEMINARS IN MEDICAL GENETICS)</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, Department of Pediatrics, University of Utah Health Sciences Center, 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>Division of Medical Genetics, Department of Pediatrics, University of Utah Health Sciences Center, 2C412 SOM, 50 North Medical Drive, Salt Lake City, UT 84132.</affiliation></author><author xml:id="author-0001"><persName><forename type="first">Marcia L.</forename><surname>Feldkamp</surname></persName><affiliation>Division of Medical Genetics, Department of Pediatrics, University of Utah Health Sciences Center, 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></author><author xml:id="author-0002"><persName><forename type="first">Emmanuelle</forename><surname>Amar</surname></persName><affiliation>Rhone‐Alps Registry of Birth Defects REMERA, Lyon, France<address><country key="FR"></country></address></affiliation></author><author xml:id="author-0003"><persName><forename type="first">John C.</forename><surname>Carey</surname></persName><affiliation>Division of Medical Genetics, Department of Pediatrics, University of Utah Health Sciences Center, 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></author><author xml:id="author-0004"><persName><forename type="first">Eduardo E.</forename><surname>Castilla</surname></persName><affiliation>INAGEMP (Instituto Nacional de Genética Médica Populacional), Brazil<address><country key="BR"></country></address></affiliation><affiliation>ECLAMC (Estudio Colaborativo Latino Americano de Malformaciones Congénitas) at Instituto Oswaldo Cruz, Fundação Oswaldo Cruz, Rio de Janeiro, Brazil<address><country key="BR"></country></address></affiliation><affiliation>CEMIC (Centro de Estudios Médicos e Investigaciones Clínicas), Buenos Aires, Argentina<address><country key="AR"></country></address></affiliation></author><author xml:id="author-0005"><persName><forename type="first">Maurizio</forename><surname>Clementi</surname></persName><affiliation>Department of Pediatrics, University of Padua, Clinical Genetics Unit, Padua, Italy<address><country key="IT"></country></address></affiliation></author><author xml:id="author-0006"><persName><forename type="first">Guido</forename><surname>Cocchi</surname></persName><affiliation>IMER Registry, Department of Pediatrics, Bologna University, Bologna, Italy<address><country key="IT"></country></address></affiliation></author><author xml:id="author-0007"><persName><forename type="first">Hermien E.K.</forename><surname>de Walle</surname></persName><affiliation>Eurocat Northern Netherlands, Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands<address><country key="NL"></country></address></affiliation></author><author xml:id="author-0008"><persName><forename type="first">Jane</forename><surname>Halliday</surname></persName><affiliation>Public Health Genetics, Laboratory and Community Genetics, Murdoch Childrens Research Institute, The Royal Children's Hospital, Parkville, Victoria, Australia, formerly Victorian Birth Defects Register, Victoria, Australia<address><country key="AU"></country></address></affiliation></author><author xml:id="author-0009"><persName><forename type="first">Emanuele</forename><surname>Leoncini</surname></persName><affiliation>Centre of the International Clearinghouse for Birth Defects Surveillance and Research, Rome, Italy<address><country key="IT"></country></address></affiliation></author><author xml:id="author-0010"><persName><forename type="first">Zhu</forename><surname>Li</surname></persName><affiliation>National Center for Maternal and Infant Health, Peking University Health Science Center, Beijing, People's Republic of China<address><country key="CN"></country></address></affiliation></author><author xml:id="author-0011"><persName><forename type="first">R. Brian</forename><surname>Lowry</surname></persName><affiliation>Alberta Congenital Anomalies Surveillance System, Alberta Health & Wellness, Calgary, Alberta, Canada<address><country key="CA"></country></address></affiliation></author><author xml:id="author-0012"><persName><forename type="first">Lisa K.</forename><surname>Marengo</surname></persName><affiliation>Birth Defects Epidemiology and Surveillance Branch, Texas Department of State Health Services, Texas<address><country key="US"></country></address></affiliation></author><author xml:id="author-0013"><persName><forename type="first">María‐Luisa</forename><surname>Martínez‐Frías</surname></persName><affiliation>ECEMC (Spanish Collaborative Study of Congenital Malformations), Centro de Investigación sobre Anomalías Congénitas (CIAC), Instituto de Salud Carlos III (ISCIII), Madrid, Spain<address><country key="ES"></country></address></affiliation><affiliation>CIBER de Enfermedades Raras (CIBERER) (Centre for Biomedical Research on Rare Diseases), Madrid, Spain<address><country key="ES"></country></address></affiliation><affiliation>Department of Pharmacology, Faculty of Medicine, Universidad Complutense de Madrid, Spain<address><country key="ES"></country></address></affiliation></author><author xml:id="author-0014"><persName><forename type="first">Paul</forename><surname>Merlob</surname></persName><affiliation>Rabin Medical Center, Petah Tiqva and Tel‐Aviv University, Israel<address><country key="IL"></country></address></affiliation></author><author xml:id="author-0015"><persName><forename type="first">Margery</forename><surname>Morgan</surname></persName><affiliation>CARIS, the Congenital Anomaly and Register for Wales, Singleton Hospital, Swansea, United Kingdom<address><country key="GB"></country></address></affiliation></author><author xml:id="author-0016"><persName><forename type="first">Leonora Luna</forename><surname>Muñoz</surname></persName><affiliation>Departamento de Genética, RYVEMCE, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, México City, México<address><country key="MX"></country></address></affiliation></author><author xml:id="author-0017"><persName><forename type="first">Anke</forename><surname>Rissmann</surname></persName><affiliation>Malformation Monitoring Centre Saxony‐Anhalt, Medical Faculty Otto‐von‐Guericke University Magdeburg, Germany<address><country key="DE"></country></address></affiliation></author><author xml:id="author-0018"><persName><forename type="first">Annukka</forename><surname>Ritvanen</surname></persName><affiliation>The Finnish Register of Congenital Malformations, National Institute for Health and Welfare, THL, Helsinki, Finland<address><country key="FI"></country></address></affiliation></author><author xml:id="author-0019"><persName><forename type="first">Gioacchino</forename><surname>Scarano</surname></persName><affiliation>Birth Defects Campania Registry, Medical Genetics Dept, General Hospital “G. Rummo” Benevento, Italy<address><country key="IT"></country></address></affiliation></author><author xml:id="author-0020"><persName><forename type="first">Pierpaolo</forename><surname>Mastroiacovo</surname></persName><affiliation>Centre of the International Clearinghouse for Birth Defects Surveillance and Research, Rome, Italy<address><country key="IT"></country></address></affiliation></author><idno type="istex">E19115E0D112A485E02099F97527ECDD69CF75AF</idno><idno type="ark">ark:/67375/WNG-J6HCWXS1-J</idno><idno type="DOI">10.1002/ajmg.c.30318</idno><idno type="unit">AJMG30318</idno><idno type="toTypesetVersion">file:AJMG.AJMG30318.pdf</idno></analytic><monogr><editor xml:id="editor-0000"><persName><forename type="first">Eduardo E.</forename><surname>Castilla</surname></persName></editor><editor xml:id="editor-0001"><persName><forename type="first">Pierpaolo</forename><surname>Mastroiacovo</surname></persName></editor><title level="j" type="main">American Journal of Medical Genetics Part C: Seminars in Medical Genetics</title><title level="j" type="sub">Very Rare Defects: What Can We Learn?</title><title level="j" type="alt">AMERICAN JOURNAL OF MEDICAL GENETICS PART C: SEMINARS IN MEDICAL GENETICS</title><idno type="pISSN">1552-4868</idno><idno type="eISSN">1552-4876</idno><idno type="book-DOI">10.1002/(ISSN)1552-4876</idno><idno type="book-part-DOI">10.1002/ajmg.c.v157.4</idno><idno type="product">AJMG</idno><imprint><biblScope unit="vol">157</biblScope><biblScope unit="issue">4</biblScope><biblScope unit="page" from="262">262</biblScope><biblScope unit="page" to="273">273</biblScope><biblScope unit="page-count">12</biblScope><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2011-11-15"></date></imprint></monogr></biblStruct></sourceDesc></fileDesc><profileDesc><abstract xml:lang="en" style="main"><head>Abstract</head><p>Acardia is a severe, complex malformation of monozygotic twinning, but beyond clinical case series, very few epidemiologic data are available. The goals of this study were to assess the epidemiologic characteristics of acardia from birth defect registries in the International Clearinghouse for Birth Defects Surveillance and Research (Clearinghouse), and compare these findings to current literature. The study included 17 surveillance programs of the Clearinghouse representing 23 countries from North and South America, Europe, China, and Australia. Anonymized individual records with clinical and demographic data were reviewed centrally by clinical geneticists. A literature search was performed. A total of 164 cases of acardia were reported from an underlying cohort of 21.2 million births. Of these, 23% were elective pregnancy terminations. Rates did not vary significantly by maternal age. For many cases, information on pregnancy exposures and genetic testing was missing. However, these limited data did not suggest high rates of chronic illnesses (diabetes, seizure disorders) or lifestyle factors such as smoking. One case had trisomy 13. Major malformations were reported in 2.4% of co‐twins. With some basic assumptions, the total prevalence of acardia was estimated at 1 in 50,000–70,000 births, and 1 in 200–280 monozygotic twins. In summary, acardia is a dramatic, probably underreported, and incompletely understood malformation. Studies on its epidemiology and etiology are challenging and still rare. An international collaboration of epidemiologists, clinicians, and geneticists is necessary to understand the etiology, pathogenesis, and occurrence of this severe malformation complex. © 2011 Wiley Periodicals, Inc.</p></abstract><textClass><keywords xml:lang="en"><term xml:id="kwd1">acardia</term><term xml:id="kwd2">acephalus</term><term xml:id="kwd3">twinning</term><term xml:id="kwd4">malformation</term><term xml:id="kwd5">epidemiology</term><term xml:id="kwd6">TRAP sequence</term><term xml:id="kwd7">twin reversed‐arterial perfusion sequence</term></keywords><keywords rend="articleCategory"><term>Article</term></keywords><keywords rend="tocHeading1"><term>Articles</term></keywords></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/E19115E0D112A485E02099F97527ECDD69CF75AF/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)1552-4876</doi><issn type="print">1552-4868</issn><issn type="electronic">1552-4876</issn><idGroup><id type="product" value="AJMG"></id></idGroup><titleGroup><title type="main" xml:lang="en" sort="AMERICAN JOURNAL OF MEDICAL GENETICS PART C: SEMINARS IN MEDICAL GENETICS">American Journal of Medical Genetics Part C: Seminars in Medical Genetics</title><title type="short">Am. 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Rummo” Benevento, Italy</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">acardia</keyword><keyword xml:id="kwd2">acephalus</keyword><keyword xml:id="kwd3">twinning</keyword><keyword xml:id="kwd4">malformation</keyword><keyword xml:id="kwd5">epidemiology</keyword><keyword xml:id="kwd6">TRAP sequence</keyword><keyword xml:id="kwd7">twin reversed‐arterial perfusion sequence</keyword></keywordGroup><fundingInfo><fundingAgency>Centers for Disease Control and Prevention, National Center on Birth Defects and Developmental Disabilities</fundingAgency><fundingNumber>1U50DD000524‐02</fundingNumber></fundingInfo><fundingInfo><fundingAgency>Instituto de Salud Carlos III (ISCIII, Ministry of Science and Innovation) of Spain</fundingAgency></fundingInfo><fundingInfo><fundingAgency>Fundación 1000 sobre Defectos Congénitos of Spain</fundingAgency></fundingInfo><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>Acardia is a severe, complex malformation of monozygotic twinning, but beyond clinical case series, very few epidemiologic data are available. The goals of this study were to assess the epidemiologic characteristics of acardia from birth defect registries in the International Clearinghouse for Birth Defects Surveillance and Research (Clearinghouse), and compare these findings to current literature. The study included 17 surveillance programs of the Clearinghouse representing 23 countries from North and South America, Europe, China, and Australia. Anonymized individual records with clinical and demographic data were reviewed centrally by clinical geneticists. A literature search was performed. A total of 164 cases of acardia were reported from an underlying cohort of 21.2 million births. Of these, 23% were elective pregnancy terminations. Rates did not vary significantly by maternal age. For many cases, information on pregnancy exposures and genetic testing was missing. However, these limited data did not suggest high rates of chronic illnesses (diabetes, seizure disorders) or lifestyle factors such as smoking. One case had trisomy 13. Major malformations were reported in 2.4% of co‐twins. With some basic assumptions, the total prevalence of acardia was estimated at 1 in 50,000–70,000 births, and 1 in 200–280 monozygotic twins. In summary, acardia is a dramatic, probably underreported, and incompletely understood malformation. Studies on its epidemiology and etiology are challenging and still rare. An international collaboration of epidemiologists, clinicians, and geneticists is necessary to understand the etiology, pathogenesis, and occurrence of this severe malformation complex. © 2011 Wiley Periodicals, Inc.</p></abstract></abstractGroup></contentMeta><noteGroup><note xml:id="fn1"><p>How to Cite this Article: Botto LD, Feldkamp ML, Amar E, Carey JC, Castilla EE, Clementi M, Cocchi G, de Walle HEK, Halliday J, Leoncini E, Li Z, Lowry RB, Marengo LK, Martínez‐Frías M‐L, Merlob P, Morgan M, Muñoz LL, Rissmann A, Ritvanen A, Scarano G, Mastroiacovo P. 2011. Acardia: Epidemiologic findings and literature review from the International Clearinghouse of Birth Defects Surveillance and Research. Am J Med Genet Part C Semin Med Genet 157: 262–273.</p></note></noteGroup></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Acardia: Epidemiologic findings and literature review from the International Clearinghouse for Birth Defects Surveillance and Research</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>AMERICAN JOURNAL OF MEDICAL GENETICS PART C (SEMINARS IN MEDICAL GENETICS)</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Acardia: Epidemiologic findings and literature review from the International Clearinghouse for Birth Defects Surveillance and Research</title></titleInfo><name type="personal"><namePart type="given">Lorenzo D.</namePart><namePart type="family">Botto</namePart><affiliation>Division of Medical Genetics, Department of Pediatrics, University of Utah Health Sciences Center, Salt Lake City, Utah</affiliation><affiliation>Utah Birth Defect Network, Utah Department of Health, Salt Lake City, Utah</affiliation><affiliation>E-mail: lorenzo.botto@hsc.utah.edu</affiliation><affiliation>Correspondence address: Division of Medical Genetics, Department of Pediatrics, University of Utah Health Sciences Center, 2C412 SOM, 50 North Medical Drive, Salt Lake City, UT 84132.</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Marcia L.</namePart><namePart type="family">Feldkamp</namePart><affiliation>Division of Medical Genetics, Department of Pediatrics, University of Utah Health Sciences Center, Salt Lake City, Utah</affiliation><affiliation>Utah Birth Defect Network, Utah Department of Health, Salt Lake City, Utah</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Emmanuelle</namePart><namePart type="family">Amar</namePart><affiliation>Rhone‐Alps Registry of Birth Defects REMERA, Lyon, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">John C.</namePart><namePart type="family">Carey</namePart><affiliation>Division of Medical Genetics, Department of Pediatrics, University of Utah Health Sciences Center, Salt Lake City, Utah</affiliation><affiliation>Utah Birth Defect Network, Utah Department of Health, Salt Lake City, Utah</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Eduardo E.</namePart><namePart type="family">Castilla</namePart><affiliation>INAGEMP (Instituto Nacional de Genética Médica Populacional), Brazil</affiliation><affiliation>ECLAMC (Estudio Colaborativo Latino Americano de Malformaciones Congénitas) at Instituto Oswaldo Cruz, Fundação Oswaldo Cruz, Rio de Janeiro, Brazil</affiliation><affiliation>CEMIC (Centro de Estudios Médicos e Investigaciones Clínicas), Buenos Aires, Argentina</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Maurizio</namePart><namePart type="family">Clementi</namePart><affiliation>Department of Pediatrics, University of Padua, Clinical Genetics Unit, Padua, Italy</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Guido</namePart><namePart type="family">Cocchi</namePart><affiliation>IMER Registry, Department of Pediatrics, Bologna University, Bologna, Italy</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Hermien E.K.</namePart><namePart type="family">de Walle</namePart><affiliation>Eurocat Northern Netherlands, Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Jane</namePart><namePart type="family">Halliday</namePart><affiliation>Public Health Genetics, Laboratory and Community Genetics, Murdoch Childrens Research Institute, The Royal Children's Hospital, Parkville, Victoria, Australia, formerly Victorian Birth Defects Register, Victoria, Australia</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Emanuele</namePart><namePart type="family">Leoncini</namePart><affiliation>Centre of the International Clearinghouse for Birth Defects Surveillance and Research, Rome, Italy</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Zhu</namePart><namePart type="family">Li</namePart><affiliation>National Center for Maternal and Infant Health, Peking University Health Science Center, Beijing, People's Republic of China</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">R. Brian</namePart><namePart type="family">Lowry</namePart><affiliation>Alberta Congenital Anomalies Surveillance System, Alberta Health & Wellness, Calgary, Alberta, Canada</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Lisa K.</namePart><namePart type="family">Marengo</namePart><affiliation>Birth Defects Epidemiology and Surveillance Branch, Texas Department of State Health Services, Texas</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">María‐Luisa</namePart><namePart type="family">Martínez‐Frías</namePart><affiliation>ECEMC (Spanish Collaborative Study of Congenital Malformations), Centro de Investigación sobre Anomalías Congénitas (CIAC), Instituto de Salud Carlos III (ISCIII), Madrid, Spain</affiliation><affiliation>CIBER de Enfermedades Raras (CIBERER) (Centre for Biomedical Research on Rare Diseases), Madrid, Spain</affiliation><affiliation>Department of Pharmacology, Faculty of Medicine, Universidad Complutense de Madrid, Spain</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Paul</namePart><namePart type="family">Merlob</namePart><affiliation>Rabin Medical Center, Petah Tiqva and Tel‐Aviv University, Israel</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Margery</namePart><namePart type="family">Morgan</namePart><affiliation>CARIS, the Congenital Anomaly and Register for Wales, Singleton Hospital, Swansea, United Kingdom</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Leonora Luna</namePart><namePart type="family">Muñoz</namePart><affiliation>Departamento de Genética, RYVEMCE, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, México City, México</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Anke</namePart><namePart type="family">Rissmann</namePart><affiliation>Malformation Monitoring Centre Saxony‐Anhalt, Medical Faculty Otto‐von‐Guericke University Magdeburg, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Annukka</namePart><namePart type="family">Ritvanen</namePart><affiliation>The Finnish Register of Congenital Malformations, National Institute for Health and Welfare, THL, Helsinki, Finland</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Gioacchino</namePart><namePart type="family">Scarano</namePart><affiliation>Birth Defects Campania Registry, Medical Genetics Dept, General Hospital “G. Rummo” Benevento, Italy</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Pierpaolo</namePart><namePart type="family">Mastroiacovo</namePart><affiliation>Centre of the International Clearinghouse for Birth Defects Surveillance and Research, Rome, Italy</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="article" displayLabel="article" authority="ISTEX" authorityURI="https://content-type.data.istex.fr" valueURI="https://content-type.data.istex.fr/ark:/67375/XTP-6N5SZHKN-D">article</genre><originInfo><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><place><placeTerm type="text">Hoboken</placeTerm></place><dateIssued encoding="w3cdtf">2011-11-15</dateIssued><dateCaptured encoding="w3cdtf">2011-07-19</dateCaptured><dateValid encoding="w3cdtf">2011-08-28</dateValid><copyrightDate encoding="w3cdtf">2011</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><physicalDescription><extent unit="figures">4</extent><extent unit="tables">5</extent><extent unit="references">52</extent><extent unit="words">8591</extent></physicalDescription><abstract lang="en">Acardia is a severe, complex malformation of monozygotic twinning, but beyond clinical case series, very few epidemiologic data are available. The goals of this study were to assess the epidemiologic characteristics of acardia from birth defect registries in the International Clearinghouse for Birth Defects Surveillance and Research (Clearinghouse), and compare these findings to current literature. The study included 17 surveillance programs of the Clearinghouse representing 23 countries from North and South America, Europe, China, and Australia. Anonymized individual records with clinical and demographic data were reviewed centrally by clinical geneticists. A literature search was performed. A total of 164 cases of acardia were reported from an underlying cohort of 21.2 million births. Of these, 23% were elective pregnancy terminations. Rates did not vary significantly by maternal age. For many cases, information on pregnancy exposures and genetic testing was missing. However, these limited data did not suggest high rates of chronic illnesses (diabetes, seizure disorders) or lifestyle factors such as smoking. One case had trisomy 13. Major malformations were reported in 2.4% of co‐twins. With some basic assumptions, the total prevalence of acardia was estimated at 1 in 50,000–70,000 births, and 1 in 200–280 monozygotic twins. In summary, acardia is a dramatic, probably underreported, and incompletely understood malformation. Studies on its epidemiology and etiology are challenging and still rare. An international collaboration of epidemiologists, clinicians, and geneticists is necessary to understand the etiology, pathogenesis, and occurrence of this severe malformation complex. © 2011 Wiley Periodicals, Inc.</abstract><note type="content">*How to Cite this Article: Botto LD, Feldkamp ML, Amar E, Carey JC, Castilla EE, Clementi M, Cocchi G, de Walle HEK, Halliday J, Leoncini E, Li Z, Lowry RB, Marengo LK, Martínez‐Frías M‐L, Merlob P, Morgan M, Muñoz LL, Rissmann A, Ritvanen A, Scarano G, Mastroiacovo P. 2011. Acardia: Epidemiologic findings and literature review from the International Clearinghouse of Birth Defects Surveillance and Research. Am J Med Genet Part C Semin Med Genet 157: 262–273.</note><note type="funding">Centers for Disease Control and Prevention, National Center on Birth Defects and Developmental Disabilities - No. 1U50DD000524‐02; </note><note type="funding">Instituto de Salud Carlos III (ISCIII, Ministry of Science and Innovation) of Spain</note><note type="funding">Fundación 1000 sobre Defectos Congénitos of Spain</note><subject lang="en"><genre>keywords</genre><topic>acardia</topic><topic>acephalus</topic><topic>twinning</topic><topic>malformation</topic><topic>epidemiology</topic><topic>TRAP sequence</topic><topic>twin reversed‐arterial perfusion sequence</topic></subject><relatedItem type="host"><titleInfo><title>American Journal of Medical Genetics Part C: Seminars in Medical Genetics</title></titleInfo><titleInfo type="abbreviated"><title>Am. J. Med. Genet.</title></titleInfo><name type="personal"><namePart type="given">Eduardo E.</namePart><namePart type="family">Castilla</namePart></name><name type="personal"><namePart type="given">Pierpaolo</namePart><namePart type="family">Mastroiacovo</namePart></name><genre type="journal" authority="ISTEX" authorityURI="https://publication-type.data.istex.fr" valueURI="https://publication-type.data.istex.fr/ark:/67375/JMC-0GLKJH51-B">journal</genre><subject><genre>article-category</genre><topic>Article</topic></subject><identifier type="ISSN">1552-4868</identifier><identifier type="eISSN">1552-4876</identifier><identifier type="DOI">10.1002/(ISSN)1552-4876</identifier><identifier type="PublisherID">AJMG</identifier><part><date>2011</date><detail type="title"><title>Very Rare Defects: What Can We Learn?</title></detail><detail type="volume"><caption>vol.</caption><number>157</number></detail><detail type="issue"><caption>no.</caption><number>4</number></detail><extent unit="pages"><start>262</start><end>273</end><total>12</total></extent></part></relatedItem><relatedItem type="preceding"><titleInfo><title>American Journal of Medical Genetics</title></titleInfo><identifier type="ISSN">0148-7299</identifier><identifier type="ISSN">1096-8628</identifier><part><date point="end">2004</date></part></relatedItem><identifier type="istex">E19115E0D112A485E02099F97527ECDD69CF75AF</identifier><identifier type="ark">ark:/67375/WNG-J6HCWXS1-J</identifier><identifier type="DOI">10.1002/ajmg.c.30318</identifier><identifier type="ArticleID">AJMG30318</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2011 Wiley Periodicals, Inc.</accessCondition><recordInfo><recordContentSource authority="ISTEX" authorityURI="https://loaded-corpus.data.istex.fr" valueURI="https://loaded-corpus.data.istex.fr/ark:/67375/XBH-L0C46X92-X">wiley</recordContentSource><recordOrigin>Wiley Subscription Services, Inc., A Wiley Company</recordOrigin></recordInfo></mods><json:item><extension>json</extension><original>false</original><mimetype>application/json</mimetype><uri>https://api.istex.fr/document/E19115E0D112A485E02099F97527ECDD69CF75AF/metadata/json</uri></json:item></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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