Gastroschisis and associated defects: An international study
Identifieur interne : 000356 ( Istex/Curation ); précédent : 000355; suivant : 000357Gastroschisis and associated defects: An international study
Auteurs : Pierpaolo Mastroiacovo [Italie] ; Alessandra Lisi [Italie] ; Eduardo E. Castilla [Brésil] ; María-Luisa Martínez-Frías [Espagne] ; Eva Bermejo [Espagne] ; Lisa Marengo [États-Unis] ; Jim Kucik [Géorgie (pays)] ; Csaba Siffel [Géorgie (pays)] ; Jane Halliday ; Miriam Gatt [Malte] ; Göran Annerèn [Suède] ; Fabrizio Bianchi [Italie] ; M. Aurora Canessa [Chili] ; Ron Danderfer [Canada] ; Hermien De Walle [Pays-Bas] ; John Harris [États-Unis] ; Zhu Li [République populaire de Chine] ; R. Brian Lowry [Canada] ; Robert Mcdonell [Irlande (pays)] ; Paul Merlob [Israël] ; Julia Metneki [Hongrie] ; Osvaldo Mutchinick [Mexique] ; Elisabeth Robert-Gnansia [France] ; Gioacchino Scarano [Italie] ; Antonin Sipek [République tchèque] ; Simone Pötzsch [Allemagne] ; Elena Szabova ; Lyubov Yevtushok [Ukraine]Source :
- American Journal of Medical Genetics Part A [ 1552-4825 ] ; 2007-04-01.
Descripteurs français
English descriptors
- KwdEn :
- Abdominal wall defects, Alberta, America spain sweden ukraine, American journal, Amniotic, Anencephaly, Anomaly, Anorectal, Anorectal atresia, Atresia, Australia victoria, Beijing, Birth defects, Birth defects registries, Birth defects surveillance, Body wall, Campania, Canada alberta, China beijing, Chromosomal, Chromosomal anomaly, Chromosomal syndromes, Chromosomal trisomies, Cleft, Congenital, Defect, Dyad, Dysplasia, East germany hungary ireland dublin israel italy campania italy tuscany malta mexico netherlands, Ectopia cordis, Gastroschisis, Gastroschisis cases, Genet, Genetics, High proportion, Higher proportion, Hydrocephaly, Icbdsr, Icbdsr centre, International clearinghouse, Kidney anomalies, Limb reduction defect, Limb reduction defects, Lower proportion, Malformation, Mastroiacovo, Medical genetics part, National center, Omphalocele, Other registries, Other syndromes, Present study, Recognizable syndromes, Registry, Similar anomalies, Skeletal dysplasias, Slovak, Slovak republic, Spina, Syndrome, Total cases, Total number, Triad, Trisomy, Wall defects.
- Teeft :
- Abdominal wall defects, Alberta, America spain sweden ukraine, American journal, Amniotic, Anencephaly, Anomaly, Anorectal, Anorectal atresia, Atresia, Australia victoria, Beijing, Birth defects, Birth defects registries, Birth defects surveillance, Body wall, Campania, Canada alberta, China beijing, Chromosomal, Chromosomal anomaly, Chromosomal syndromes, Chromosomal trisomies, Cleft, Congenital, Defect, Dyad, Dysplasia, East germany hungary ireland dublin israel italy campania italy tuscany malta mexico netherlands, Ectopia cordis, Gastroschisis, Gastroschisis cases, Genet, Genetics, High proportion, Higher proportion, Hydrocephaly, Icbdsr, Icbdsr centre, International clearinghouse, Kidney anomalies, Limb reduction defect, Limb reduction defects, Lower proportion, Malformation, Mastroiacovo, Medical genetics part, National center, Omphalocele, Other registries, Other syndromes, Present study, Recognizable syndromes, Registry, Similar anomalies, Skeletal dysplasias, Slovak, Slovak republic, Spina, Syndrome, Total cases, Total number, Triad, Trisomy, Wall defects.
Abstract
Our objective was to evaluate the frequency and type of malformations associated with gastroschisis in a large pool of international data, to identify malformation patterns, and to evaluate the role of maternal age in non‐isolated cases. Case‐by‐case information from 24 registries, all members of the International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR), were evaluated. After the exclusion of other abdominal wall defects cases were classified as: (a) isolated; (b) recognizable syndrome, chromosomal or not; (c) multiple congenital anomalies (MCA). Our results showed that out of 3,322 total cases 469 non‐isolated cases were registered (14.1%): 41 chromosomal syndromes, 24 other syndromes, and 404 MCA. Among MCA four groups of anomalies were most frequent: CNS (4.5%), cardio‐vascular (2.5%), limb (2.2%), and kidney anomalies (1.9%). No similar patterns emerged except two patterns resembling limb‐body wall complex and OEIS. In both of them the gastroschisis could be however misclassified. Chromosomal trisomies and possibly non‐syndromic MCA are associated with an older maternal age more than isolated cases. On consideration of our data and the most valid studies published in the literature, the best estimate of the proportion of gastroschisis associated with major unrelated defects is about 10%, with a few cases associated to recognizable syndromes. Recognized syndromes with gastroschisis seem to be so exceptional that the well documented and validated cases are worth being published as interesting case report. An appropriate case definition in etiological studies should include only isolated gastroschisis after an appropriate definition of isolated and non‐isolated cases and a thorough case‐by‐case review. © 2007 Wiley‐Liss, Inc.
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DOI: 10.1002/ajmg.a.31607
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Jane Halliday<affiliation><mods:affiliation>Birth Defects Register, Perinatal Data Collection Unit, Melbourne, Australia Victoria</mods:affiliation><wicri:noCountry code="subField">Victoria</wicri:noCountry></affiliation><affiliation><mods:affiliation>Slovak Medical University, Limbova 12, Bratislava, Slovak Republic</mods:affiliation><wicri:noCountry code="subField">Republic</wicri:noCountry></affiliation>Le document en format XML
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Aurora Canessa</name><affiliation wicri:level="1"><mods:affiliation>Linares Hospital, Maule Region, Chile</mods:affiliation><country xml:lang="fr">Chili</country><wicri:regionArea>Linares Hospital, Maule Region</wicri:regionArea></affiliation></author><author><name sortKey="Danderfer, Ron" sort="Danderfer, Ron" uniqKey="Danderfer R" first="Ron" last="Danderfer">Ron Danderfer</name><affiliation wicri:level="1"><mods:affiliation>Health Status Registry, BC Vital Statistics Agency, Victoria, British Columbia, Canada</mods:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Health Status Registry, BC Vital Statistics Agency, Victoria, British Columbia</wicri:regionArea></affiliation></author><author><name sortKey="De Walle, Hermien" sort="De Walle, Hermien" uniqKey="De Walle H" first="Hermien" last="De Walle">Hermien De Walle</name><affiliation wicri:level="1"><mods:affiliation>EUROCAT Northern Netherlands, Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, Netherlands</mods:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>EUROCAT Northern Netherlands, Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen</wicri:regionArea></affiliation></author><author><name sortKey="Harris, John" sort="Harris, John" uniqKey="Harris J" first="John" last="Harris">John Harris</name><affiliation wicri:level="2"><mods:affiliation>California Birth Defects Monitoring Program, California Department of Health Services, Oakland, California</mods:affiliation><country>États-Unis</country><placeName><region type="state">Californie</region></placeName><wicri:cityArea>California Birth Defects Monitoring Program, California Department of Health Services, Oakland</wicri:cityArea></affiliation></author><author><name sortKey="Li, Zhu" sort="Li, Zhu" uniqKey="Li Z" first="Zhu" last="Li">Zhu Li</name><affiliation wicri:level="1"><mods:affiliation>China National Centre for Maternal and Infant Health, Beijing Medical University, Beijing, China</mods:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>China National Centre for Maternal and Infant Health, Beijing Medical University, Beijing</wicri:regionArea></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 wicri:level="1"><mods:affiliation>Department of Medical Genetics, Alberta Children Hospital, Calgary, Alberta, Canada</mods:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Medical Genetics, Alberta Children Hospital, Calgary, Alberta</wicri:regionArea></affiliation></author><author><name sortKey="Mcdonell, Robert" sort="Mcdonell, Robert" uniqKey="Mcdonell R" first="Robert" last="Mcdonell">Robert Mcdonell</name><affiliation wicri:level="1"><mods:affiliation>Department of Public Health, Eastern Regional Health Authority, Dr. Steven's Hospital, Dublin, Ireland</mods:affiliation><country xml:lang="fr">Irlande (pays)</country><wicri:regionArea>Department of Public Health, Eastern Regional Health Authority, Dr. Steven's Hospital, Dublin</wicri:regionArea></affiliation></author><author><name sortKey="Merlob, Paul" sort="Merlob, Paul" uniqKey="Merlob P" first="Paul" last="Merlob">Paul Merlob</name><affiliation wicri:level="1"><mods:affiliation>Department of Neonatology, Rabin Medical Center, Beilinson Campus, Petah Tikva, Israel</mods:affiliation><country xml:lang="fr">Israël</country><wicri:regionArea>Department of Neonatology, Rabin Medical Center, Beilinson Campus, Petah Tikva</wicri:regionArea></affiliation></author><author><name sortKey="Metneki, Julia" sort="Metneki, Julia" uniqKey="Metneki J" first="Julia" last="Metneki">Julia Metneki</name><affiliation wicri:level="1"><mods:affiliation>Department of Human Genetics and Teratology, National Center for Epidemiology, Gyali, Budapest, Hungary</mods:affiliation><country xml:lang="fr">Hongrie</country><wicri:regionArea>Department of Human Genetics and Teratology, National Center for Epidemiology, Gyali, Budapest</wicri:regionArea></affiliation></author><author><name sortKey="Mutchinick, Osvaldo" sort="Mutchinick, Osvaldo" uniqKey="Mutchinick O" first="Osvaldo" last="Mutchinick">Osvaldo Mutchinick</name><affiliation wicri:level="1"><mods:affiliation>RYVEMCE, Department of Genetics, National Institute of Medical Sciences and Nutrition Salvador Zubiran, Mexico City, Mexico</mods:affiliation><country xml:lang="fr">Mexique</country><wicri:regionArea>RYVEMCE, Department of Genetics, National Institute of Medical Sciences and Nutrition Salvador Zubiran, Mexico City</wicri:regionArea></affiliation></author><author><name sortKey="Robert Nansia, Elisabeth" sort="Robert Nansia, Elisabeth" uniqKey="Robert Nansia E" first="Elisabeth" last="Robert-Gnansia">Elisabeth Robert-Gnansia</name><affiliation wicri:level="1"><mods:affiliation>Institut Européen des Génomutations, Lyon, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Institut Européen des Génomutations, Lyon</wicri:regionArea></affiliation></author><author><name sortKey="Scarano, Gioacchino" sort="Scarano, Gioacchino" uniqKey="Scarano G" first="Gioacchino" last="Scarano">Gioacchino Scarano</name><affiliation wicri:level="1"><mods:affiliation>Osservatorio Epidemiologico Regionale, Assessorato alla Sanità—Regione Campania, Naples, Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Osservatorio Epidemiologico Regionale, Assessorato alla Sanità—Regione Campania, Naples</wicri:regionArea></affiliation></author><author><name sortKey="Sipek, Antonin" sort="Sipek, Antonin" uniqKey="Sipek A" first="Antonin" last="Sipek">Antonin Sipek</name><affiliation wicri:level="1"><mods:affiliation>Department of Population Teratology, Institute for Care of Mother and Child, Prague, Czech Republic</mods:affiliation><country xml:lang="fr">République tchèque</country><wicri:regionArea>Department of Population Teratology, Institute for Care of Mother and Child, Prague</wicri:regionArea></affiliation></author><author><name sortKey="Potzsch, Simone" sort="Potzsch, Simone" uniqKey="Potzsch S" first="Simone" last="Pötzsch">Simone Pötzsch</name><affiliation wicri:level="1"><mods:affiliation>Malformation Monitoring Saxony‐Anhalt, Faculty of Medicine, Otto‐von‐Guericke University, Magdeburg, Germany</mods:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Malformation Monitoring Saxony‐Anhalt, Faculty of Medicine, Otto‐von‐Guericke University, Magdeburg</wicri:regionArea></affiliation></author><author><name sortKey="Szabova, Elena" sort="Szabova, Elena" uniqKey="Szabova E" first="Elena" last="Szabova">Elena Szabova</name><affiliation><mods:affiliation>Slovak Medical University, Limbova 12, Bratislava, Slovak Republic</mods:affiliation><wicri:noCountry code="subField">Republic</wicri:noCountry></affiliation></author><author><name sortKey="Yevtushok, Lyubov" sort="Yevtushok, Lyubov" uniqKey="Yevtushok L" first="Lyubov" last="Yevtushok">Lyubov Yevtushok</name><affiliation wicri:level="1"><mods:affiliation>Volyn Regional Children's Territorial Medical Center, Lutsk, Volyn, Ukraine</mods:affiliation><country xml:lang="fr">Ukraine</country><wicri:regionArea>Volyn Regional Children's Territorial Medical Center, Lutsk, Volyn</wicri:regionArea></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:12908013A799A37D1CB1A7B085EDF68C9E2ADDDA</idno><date when="2007" year="2007">2007</date><idno type="doi">10.1002/ajmg.a.31607</idno><idno type="url">https://api.istex.fr/document/12908013A799A37D1CB1A7B085EDF68C9E2ADDDA/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">000356</idno><idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Corpus" wicri:corpus="ISTEX">000356</idno><idno type="wicri:Area/Istex/Curation">000356</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Gastroschisis and associated defects: An international study<ref type="note" target="#fn1"></ref></title><author><name sortKey="Mastroiacovo, Pierpaolo" sort="Mastroiacovo, Pierpaolo" uniqKey="Mastroiacovo P" first="Pierpaolo" last="Mastroiacovo">Pierpaolo Mastroiacovo</name><affiliation wicri:level="1"><mods:affiliation>Centre of the International Clearinghouse for Birth Defects Surveillance and Research, Rome, Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Centre of the International Clearinghouse for Birth Defects Surveillance and Research, Rome</wicri:regionArea></affiliation><affiliation><mods:affiliation>E-mail: icbd@icbd.org</mods:affiliation></affiliation><affiliation wicri:level="1"><mods:affiliation>Correspondence address: Via Carlo Mirabello 19, 00195 Roma.</mods:affiliation><country>Italie</country><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName><wicri:regionArea>Correspondence address: Via Carlo Mirabello 19</wicri:regionArea></affiliation></author><author><name sortKey="Lisi, Alessandra" sort="Lisi, Alessandra" uniqKey="Lisi A" first="Alessandra" last="Lisi">Alessandra Lisi</name><affiliation wicri:level="1"><mods:affiliation>Centre of the International Clearinghouse for Birth Defects Surveillance and Research, Rome, Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Centre of the International Clearinghouse for Birth Defects Surveillance and Research, Rome</wicri:regionArea></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 wicri:level="1"><mods:affiliation>ECLAMC/Dept. Genetica/FIOCRUZ, Rio De Janeiro, Brazil</mods:affiliation><country xml:lang="fr">Brésil</country><wicri:regionArea>ECLAMC/Dept. Genetica/FIOCRUZ, Rio De Janeiro</wicri:regionArea></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 wicri:level="1"><mods:affiliation>ECEMC, Centro de Investigación sobre Anomalías Congénitas (CIAC), Instituto de Salud Carlos III, Madrid, Spain</mods:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>ECEMC, Centro de Investigación sobre Anomalías Congénitas (CIAC), Instituto de Salud Carlos III, Madrid</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Department of Pharmacology, Faculty of Medicine, Universidad Complutense, Madrid, Spain</mods:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Department of Pharmacology, Faculty of Medicine, Universidad Complutense, Madrid</wicri:regionArea></affiliation></author><author><name sortKey="Bermejo, Eva" sort="Bermejo, Eva" uniqKey="Bermejo E" first="Eva" last="Bermejo">Eva Bermejo</name><affiliation wicri:level="1"><mods:affiliation>ECEMC, Centro de Investigación sobre Anomalías Congénitas (CIAC), Instituto de Salud Carlos III, Madrid, Spain</mods:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>ECEMC, Centro de Investigación sobre Anomalías Congénitas (CIAC), Instituto de Salud Carlos III, Madrid</wicri:regionArea></affiliation></author><author><name sortKey="Marengo, Lisa" sort="Marengo, Lisa" uniqKey="Marengo L" first="Lisa" last="Marengo">Lisa Marengo</name><affiliation wicri:level="2"><mods:affiliation>Birth Defects Epidemiology and Surveillance Branch, Texas Department of State Health Services, Austin, Texas</mods:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Texas</region></placeName><wicri:cityArea>Birth Defects Epidemiology and Surveillance Branch, Texas Department of State Health Services, Austin</wicri:cityArea></affiliation></author><author><name sortKey="Kucik, Jim" sort="Kucik, Jim" uniqKey="Kucik J" first="Jim" last="Kucik">Jim Kucik</name><affiliation wicri:level="1"><mods:affiliation>National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia</mods:affiliation><country xml:lang="fr">Géorgie (pays)</country><wicri:regionArea>National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta</wicri:regionArea></affiliation></author><author><name sortKey="Siffel, Csaba" sort="Siffel, Csaba" uniqKey="Siffel C" first="Csaba" last="Siffel">Csaba Siffel</name><affiliation wicri:level="1"><mods:affiliation>National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia</mods:affiliation><country xml:lang="fr">Géorgie (pays)</country><wicri:regionArea>National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta</wicri:regionArea></affiliation></author><author><name sortKey="Halliday, Jane" sort="Halliday, Jane" uniqKey="Halliday J" first="Jane" last="Halliday">Jane Halliday</name><affiliation><mods:affiliation>Birth Defects Register, Perinatal Data Collection Unit, Melbourne, Australia Victoria</mods:affiliation><wicri:noCountry code="subField">Victoria</wicri:noCountry></affiliation></author><author><name sortKey="Gatt, Miriam" sort="Gatt, Miriam" uniqKey="Gatt M" first="Miriam" last="Gatt">Miriam Gatt</name><affiliation wicri:level="1"><mods:affiliation>Malta Congenital Anomalies Registry, Department of Health Information, Guardamangia, Malta</mods:affiliation><country xml:lang="fr">Malte</country><wicri:regionArea>Malta Congenital Anomalies Registry, Department of Health Information, Guardamangia</wicri:regionArea></affiliation></author><author><name sortKey="Anneren, Goran" sort="Anneren, Goran" uniqKey="Anneren G" first="Göran" last="Annerèn">Göran Annerèn</name><affiliation wicri:level="1"><mods:affiliation>Department of Clinical Genetics, Uppsala University Children's Hospital, Uppsala, Sweden</mods:affiliation><country xml:lang="fr">Suède</country><wicri:regionArea>Department of Clinical Genetics, Uppsala University Children's Hospital, Uppsala</wicri:regionArea></affiliation></author><author><name sortKey="Bianchi, Fabrizio" sort="Bianchi, Fabrizio" uniqKey="Bianchi F" first="Fabrizio" last="Bianchi">Fabrizio Bianchi</name><affiliation wicri:level="1"><mods:affiliation>Sezione di Epidemiologia e Biostatistica, Istituto di Fisiologia Clinica del Consiglio Nazionale delle Ricerche, Pisa, Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Sezione di Epidemiologia e Biostatistica, Istituto di Fisiologia Clinica del Consiglio Nazionale delle Ricerche, Pisa</wicri:regionArea></affiliation></author><author><name sortKey="Canessa, M Aurora" sort="Canessa, M Aurora" uniqKey="Canessa M" first="M. Aurora" last="Canessa">M. Aurora Canessa</name><affiliation wicri:level="1"><mods:affiliation>Linares Hospital, Maule Region, Chile</mods:affiliation><country xml:lang="fr">Chili</country><wicri:regionArea>Linares Hospital, Maule Region</wicri:regionArea></affiliation></author><author><name sortKey="Danderfer, Ron" sort="Danderfer, Ron" uniqKey="Danderfer R" first="Ron" last="Danderfer">Ron Danderfer</name><affiliation wicri:level="1"><mods:affiliation>Health Status Registry, BC Vital Statistics Agency, Victoria, British Columbia, Canada</mods:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Health Status Registry, BC Vital Statistics Agency, Victoria, British Columbia</wicri:regionArea></affiliation></author><author><name sortKey="De Walle, Hermien" sort="De Walle, Hermien" uniqKey="De Walle H" first="Hermien" last="De Walle">Hermien De Walle</name><affiliation wicri:level="1"><mods:affiliation>EUROCAT Northern Netherlands, Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, Netherlands</mods:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>EUROCAT Northern Netherlands, Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen</wicri:regionArea></affiliation></author><author><name sortKey="Harris, John" sort="Harris, John" uniqKey="Harris J" first="John" last="Harris">John Harris</name><affiliation wicri:level="2"><mods:affiliation>California Birth Defects Monitoring Program, California Department of Health Services, Oakland, California</mods:affiliation><country>États-Unis</country><placeName><region type="state">Californie</region></placeName><wicri:cityArea>California Birth Defects Monitoring Program, California Department of Health Services, Oakland</wicri:cityArea></affiliation></author><author><name sortKey="Li, Zhu" sort="Li, Zhu" uniqKey="Li Z" first="Zhu" last="Li">Zhu Li</name><affiliation wicri:level="1"><mods:affiliation>China National Centre for Maternal and Infant Health, Beijing Medical University, Beijing, China</mods:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>China National Centre for Maternal and Infant Health, Beijing Medical University, Beijing</wicri:regionArea></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 wicri:level="1"><mods:affiliation>Department of Medical Genetics, Alberta Children Hospital, Calgary, Alberta, Canada</mods:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Medical Genetics, Alberta Children Hospital, Calgary, Alberta</wicri:regionArea></affiliation></author><author><name sortKey="Mcdonell, Robert" sort="Mcdonell, Robert" uniqKey="Mcdonell R" first="Robert" last="Mcdonell">Robert Mcdonell</name><affiliation wicri:level="1"><mods:affiliation>Department of Public Health, Eastern Regional Health Authority, Dr. Steven's Hospital, Dublin, Ireland</mods:affiliation><country xml:lang="fr">Irlande (pays)</country><wicri:regionArea>Department of Public Health, Eastern Regional Health Authority, Dr. Steven's Hospital, Dublin</wicri:regionArea></affiliation></author><author><name sortKey="Merlob, Paul" sort="Merlob, Paul" uniqKey="Merlob P" first="Paul" last="Merlob">Paul Merlob</name><affiliation wicri:level="1"><mods:affiliation>Department of Neonatology, Rabin Medical Center, Beilinson Campus, Petah Tikva, Israel</mods:affiliation><country xml:lang="fr">Israël</country><wicri:regionArea>Department of Neonatology, Rabin Medical Center, Beilinson Campus, Petah Tikva</wicri:regionArea></affiliation></author><author><name sortKey="Metneki, Julia" sort="Metneki, Julia" uniqKey="Metneki J" first="Julia" last="Metneki">Julia Metneki</name><affiliation wicri:level="1"><mods:affiliation>Department of Human Genetics and Teratology, National Center for Epidemiology, Gyali, Budapest, Hungary</mods:affiliation><country xml:lang="fr">Hongrie</country><wicri:regionArea>Department of Human Genetics and Teratology, National Center for Epidemiology, Gyali, Budapest</wicri:regionArea></affiliation></author><author><name sortKey="Mutchinick, Osvaldo" sort="Mutchinick, Osvaldo" uniqKey="Mutchinick O" first="Osvaldo" last="Mutchinick">Osvaldo Mutchinick</name><affiliation wicri:level="1"><mods:affiliation>RYVEMCE, Department of Genetics, National Institute of Medical Sciences and Nutrition Salvador Zubiran, Mexico City, Mexico</mods:affiliation><country xml:lang="fr">Mexique</country><wicri:regionArea>RYVEMCE, Department of Genetics, National Institute of Medical Sciences and Nutrition Salvador Zubiran, Mexico City</wicri:regionArea></affiliation></author><author><name sortKey="Robert Nansia, Elisabeth" sort="Robert Nansia, Elisabeth" uniqKey="Robert Nansia E" first="Elisabeth" last="Robert-Gnansia">Elisabeth Robert-Gnansia</name><affiliation wicri:level="1"><mods:affiliation>Institut Européen des Génomutations, Lyon, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Institut Européen des Génomutations, Lyon</wicri:regionArea></affiliation></author><author><name sortKey="Scarano, Gioacchino" sort="Scarano, Gioacchino" uniqKey="Scarano G" first="Gioacchino" last="Scarano">Gioacchino Scarano</name><affiliation wicri:level="1"><mods:affiliation>Osservatorio Epidemiologico Regionale, Assessorato alla Sanità—Regione Campania, Naples, Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Osservatorio Epidemiologico Regionale, Assessorato alla Sanità—Regione Campania, Naples</wicri:regionArea></affiliation></author><author><name sortKey="Sipek, Antonin" sort="Sipek, Antonin" uniqKey="Sipek A" first="Antonin" last="Sipek">Antonin Sipek</name><affiliation wicri:level="1"><mods:affiliation>Department of Population Teratology, Institute for Care of Mother and Child, Prague, Czech Republic</mods:affiliation><country xml:lang="fr">République tchèque</country><wicri:regionArea>Department of Population Teratology, Institute for Care of Mother and Child, Prague</wicri:regionArea></affiliation></author><author><name sortKey="Potzsch, Simone" sort="Potzsch, Simone" uniqKey="Potzsch S" first="Simone" last="Pötzsch">Simone Pötzsch</name><affiliation wicri:level="1"><mods:affiliation>Malformation Monitoring Saxony‐Anhalt, Faculty of Medicine, Otto‐von‐Guericke University, Magdeburg, Germany</mods:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Malformation Monitoring Saxony‐Anhalt, Faculty of Medicine, Otto‐von‐Guericke University, Magdeburg</wicri:regionArea></affiliation></author><author><name sortKey="Szabova, Elena" sort="Szabova, Elena" uniqKey="Szabova E" first="Elena" last="Szabova">Elena Szabova</name><affiliation><mods:affiliation>Slovak Medical University, Limbova 12, Bratislava, Slovak Republic</mods:affiliation><wicri:noCountry code="subField">Republic</wicri:noCountry></affiliation></author><author><name sortKey="Yevtushok, Lyubov" sort="Yevtushok, Lyubov" uniqKey="Yevtushok L" first="Lyubov" last="Yevtushok">Lyubov Yevtushok</name><affiliation wicri:level="1"><mods:affiliation>Volyn Regional Children's Territorial Medical Center, Lutsk, Volyn, Ukraine</mods:affiliation><country xml:lang="fr">Ukraine</country><wicri:regionArea>Volyn Regional Children's Territorial Medical Center, Lutsk, Volyn</wicri:regionArea></affiliation></author></analytic><monogr></monogr><series><title level="j" type="main">American Journal of Medical Genetics Part A</title><title level="j" type="alt">AMERICAN JOURNAL OF MEDICAL GENETICS</title><idno type="ISSN">1552-4825</idno><idno type="eISSN">1552-4833</idno><imprint><biblScope unit="vol">143A</biblScope><biblScope unit="issue">7</biblScope><biblScope unit="page" from="660">660</biblScope><biblScope unit="page" to="671">671</biblScope><biblScope unit="page-count">12</biblScope><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2007-04-01">2007-04-01</date></imprint><idno type="ISSN">1552-4825</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">1552-4825</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Abdominal wall defects</term><term>Alberta</term><term>America spain sweden ukraine</term><term>American journal</term><term>Amniotic</term><term>Anencephaly</term><term>Anomaly</term><term>Anorectal</term><term>Anorectal atresia</term><term>Atresia</term><term>Australia victoria</term><term>Beijing</term><term>Birth defects</term><term>Birth defects registries</term><term>Birth defects surveillance</term><term>Body wall</term><term>Campania</term><term>Canada alberta</term><term>China beijing</term><term>Chromosomal</term><term>Chromosomal anomaly</term><term>Chromosomal syndromes</term><term>Chromosomal trisomies</term><term>Cleft</term><term>Congenital</term><term>Defect</term><term>Dyad</term><term>Dysplasia</term><term>East germany hungary ireland dublin israel italy campania italy tuscany malta mexico netherlands</term><term>Ectopia cordis</term><term>Gastroschisis</term><term>Gastroschisis cases</term><term>Genet</term><term>Genetics</term><term>High proportion</term><term>Higher proportion</term><term>Hydrocephaly</term><term>Icbdsr</term><term>Icbdsr centre</term><term>International clearinghouse</term><term>Kidney anomalies</term><term>Limb reduction defect</term><term>Limb reduction defects</term><term>Lower proportion</term><term>Malformation</term><term>Mastroiacovo</term><term>Medical genetics part</term><term>National center</term><term>Omphalocele</term><term>Other registries</term><term>Other syndromes</term><term>Present study</term><term>Recognizable syndromes</term><term>Registry</term><term>Similar anomalies</term><term>Skeletal dysplasias</term><term>Slovak</term><term>Slovak republic</term><term>Spina</term><term>Syndrome</term><term>Total cases</term><term>Total number</term><term>Triad</term><term>Trisomy</term><term>Wall defects</term></keywords><keywords scheme="Teeft" xml:lang="en"><term>Abdominal wall defects</term><term>Alberta</term><term>America spain sweden ukraine</term><term>American journal</term><term>Amniotic</term><term>Anencephaly</term><term>Anomaly</term><term>Anorectal</term><term>Anorectal atresia</term><term>Atresia</term><term>Australia victoria</term><term>Beijing</term><term>Birth defects</term><term>Birth defects registries</term><term>Birth defects surveillance</term><term>Body wall</term><term>Campania</term><term>Canada alberta</term><term>China beijing</term><term>Chromosomal</term><term>Chromosomal anomaly</term><term>Chromosomal syndromes</term><term>Chromosomal trisomies</term><term>Cleft</term><term>Congenital</term><term>Defect</term><term>Dyad</term><term>Dysplasia</term><term>East germany hungary ireland dublin israel italy campania italy tuscany malta mexico netherlands</term><term>Ectopia cordis</term><term>Gastroschisis</term><term>Gastroschisis cases</term><term>Genet</term><term>Genetics</term><term>High proportion</term><term>Higher proportion</term><term>Hydrocephaly</term><term>Icbdsr</term><term>Icbdsr centre</term><term>International clearinghouse</term><term>Kidney anomalies</term><term>Limb reduction defect</term><term>Limb reduction defects</term><term>Lower proportion</term><term>Malformation</term><term>Mastroiacovo</term><term>Medical genetics part</term><term>National center</term><term>Omphalocele</term><term>Other registries</term><term>Other syndromes</term><term>Present study</term><term>Recognizable syndromes</term><term>Registry</term><term>Similar anomalies</term><term>Skeletal dysplasias</term><term>Slovak</term><term>Slovak republic</term><term>Spina</term><term>Syndrome</term><term>Total cases</term><term>Total number</term><term>Triad</term><term>Trisomy</term><term>Wall defects</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Campanie</term><term>Génétique</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Our objective was to evaluate the frequency and type of malformations associated with gastroschisis in a large pool of international data, to identify malformation patterns, and to evaluate the role of maternal age in non‐isolated cases. Case‐by‐case information from 24 registries, all members of the International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR), were evaluated. After the exclusion of other abdominal wall defects cases were classified as: (a) isolated; (b) recognizable syndrome, chromosomal or not; (c) multiple congenital anomalies (MCA). Our results showed that out of 3,322 total cases 469 non‐isolated cases were registered (14.1%): 41 chromosomal syndromes, 24 other syndromes, and 404 MCA. Among MCA four groups of anomalies were most frequent: CNS (4.5%), cardio‐vascular (2.5%), limb (2.2%), and kidney anomalies (1.9%). No similar patterns emerged except two patterns resembling limb‐body wall complex and OEIS. In both of them the gastroschisis could be however misclassified. Chromosomal trisomies and possibly non‐syndromic MCA are associated with an older maternal age more than isolated cases. On consideration of our data and the most valid studies published in the literature, the best estimate of the proportion of gastroschisis associated with major unrelated defects is about 10%, with a few cases associated to recognizable syndromes. Recognized syndromes with gastroschisis seem to be so exceptional that the well documented and validated cases are worth being published as interesting case report. An appropriate case definition in etiological studies should include only isolated gastroschisis after an appropriate definition of isolated and non‐isolated cases and a thorough case‐by‐case review. © 2007 Wiley‐Liss, Inc.</div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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