Gastroschisis and associated defects : An international study. Commentary : Gastroschisis
Identifieur interne : 002383 ( PascalFrancis/Curation ); précédent : 002382; suivant : 002384Gastroschisis and associated defects : An international study. Commentary : Gastroschisis
Auteurs : John M. Opitz [États-Unis] ; Pierpaolo Mastroiacovo [Italie] ; Alessandra Lisi [Italie] ; Eduardo E. Castilla [Brésil] ; Maria-Luisa Martinez-Frias [Espagne] ; Eva Bermejo [Espagne] ; Lisa Marengo [États-Unis] ; Jim Kucik [États-Unis] ; Csaba Siffel [États-Unis] ; Jane Halliday [Australie] ; Miriam Gatt [Malte] ; Göran Anneren [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 Mcrlob [Israël] ; Julia Metneki [Hongrie] ; Osvaldo Mutchinick [Mexique] ; Elisabeth Robert-Gnansia [France] ; Gioacchino Scarano [Italie] ; Antonin Sipek [République tchèque] ; Simone Pötzsch [Allemagne] ; Elena Szabova ; Lyubov YevtushokSource :
- American journal of medical genetics. Part A [ 1552-4825 ] ; 2007.
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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%), cardiovascular (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 he 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 micelle 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-hy-case review.
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Opitz</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Pediatrics (Medical Genetics), Human Genetics, Obstetrics And Gynecology, Pathology, School of Medicine, University of Utah</s1><s2>Salt Lake City, Utah</s2><s3>USA</s3><sZ>1 aut.</sZ></inist:fA14><country>États-Unis</country></affiliation></author><author><name sortKey="Mastroiacovo, Pierpaolo" sort="Mastroiacovo, Pierpaolo" uniqKey="Mastroiacovo P" first="Pierpaolo" last="Mastroiacovo">Pierpaolo Mastroiacovo</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Centre of the International Clearinghouse for Birth Defects Surveillance and Research</s1><s2>Rome</s2><s3>ITA</s3><sZ>2 aut.</sZ><sZ>3 aut.</sZ></inist:fA14><country>Italie</country></affiliation></author><author><name sortKey="Lisi, Alessandra" sort="Lisi, Alessandra" uniqKey="Lisi A" first="Alessandra" last="Lisi">Alessandra Lisi</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Centre of the International Clearinghouse for Birth Defects Surveillance and Research</s1><s2>Rome</s2><s3>ITA</s3><sZ>2 aut.</sZ><sZ>3 aut.</sZ></inist:fA14><country>Italie</country></affiliation></author><author><name sortKey="Castilla, Eduardo E" sort="Castilla, Eduardo E" uniqKey="Castilla E" first="Eduardo E." last="Castilla">Eduardo E. 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Genetica/FIOCRUZ</s1><s2>Rio De Janeiro</s2><s3>BRA</s3><sZ>4 aut.</sZ></inist:fA14><country>Brésil</country></affiliation></author><author><name sortKey="Martinez Frias, Maria Luisa" sort="Martinez Frias, Maria Luisa" uniqKey="Martinez Frias M" first="Maria-Luisa" last="Martinez-Frias">Maria-Luisa Martinez-Frias</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>ECEMC, Centro tie Investigación sobre Anomalías Congénitas (CIAC), Institute) de Salud Carlos III</s1><s2>Madrid</s2><s3>ESP</s3><sZ>5 aut.</sZ><sZ>6 aut.</sZ></inist:fA14><country>Espagne</country></affiliation><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Department of Pharmacology, Faculty of Medicine, Universidad Compkitense</s1><s2>Madrid</s2><s3>ESP</s3><sZ>5 aut.</sZ></inist:fA14><country>Espagne</country></affiliation></author><author><name sortKey="Bermejo, Eva" sort="Bermejo, Eva" uniqKey="Bermejo E" first="Eva" last="Bermejo">Eva Bermejo</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>ECEMC, Centro tie Investigación sobre Anomalías Congénitas (CIAC), Institute) de Salud Carlos III</s1><s2>Madrid</s2><s3>ESP</s3><sZ>5 aut.</sZ><sZ>6 aut.</sZ></inist:fA14><country>Espagne</country></affiliation></author><author><name sortKey="Marengo, Lisa" sort="Marengo, Lisa" uniqKey="Marengo L" first="Lisa" last="Marengo">Lisa Marengo</name><affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Birth Defects Epidemiology and Surveillance Branch, Texas Department of State Health Services</s1><s2>Austin, Texas</s2><s3>USA</s3><sZ>7 aut.</sZ></inist:fA14><country>États-Unis</country></affiliation></author><author><name sortKey="Kucik, Jim" sort="Kucik, Jim" uniqKey="Kucik J" first="Jim" last="Kucik">Jim Kucik</name><affiliation wicri:level="1"><inist:fA14 i1="07"><s1>National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention</s1><s2>Atlanta, Georgia</s2><s3>USA</s3><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>États-Unis</country></affiliation></author><author><name sortKey="Siffel, Csaba" sort="Siffel, Csaba" uniqKey="Siffel C" first="Csaba" last="Siffel">Csaba Siffel</name><affiliation wicri:level="1"><inist:fA14 i1="07"><s1>National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention</s1><s2>Atlanta, Georgia</s2><s3>USA</s3><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>États-Unis</country></affiliation></author><author><name sortKey="Halliday, Jane" sort="Halliday, Jane" uniqKey="Halliday J" first="Jane" last="Halliday">Jane Halliday</name><affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Birth Defects Register, Perinatal Data Collection Unit</s1><s2>Melbourne, Victoria</s2><s3>AUS</s3><sZ>10 aut.</sZ></inist:fA14><country>Australie</country></affiliation></author><author><name sortKey="Gatt, Miriam" sort="Gatt, Miriam" uniqKey="Gatt M" first="Miriam" last="Gatt">Miriam Gatt</name><affiliation wicri:level="1"><inist:fA14 i1="09"><s1>Malta Congenital Anomalies Registry Department of Health Information</s1><s2>Guardamangia</s2><s3>MLT</s3><sZ>11 aut.</sZ></inist:fA14><country>Malte</country></affiliation></author><author><name sortKey="Anneren, Goran" sort="Anneren, Goran" uniqKey="Anneren G" first="Göran" last="Anneren">Göran Anneren</name><affiliation wicri:level="1"><inist:fA14 i1="10"><s1>Department of Clinical Genetics, Uppsala University Children's Hospital</s1><s2>Uppsala</s2><s3>SWE</s3><sZ>12 aut.</sZ></inist:fA14><country>Suède</country></affiliation></author><author><name sortKey="Bianchi, Fabrizio" sort="Bianchi, Fabrizio" uniqKey="Bianchi F" first="Fabrizio" last="Bianchi">Fabrizio Bianchi</name><affiliation wicri:level="1"><inist:fA14 i1="11"><s1>Sezione di Epidemiologia e Biostatistica, Istituto di Fisiologia Clinica del Consiglio Naxionale delle Ricerche</s1><s2>Pisa</s2><s3>ITA</s3><sZ>13 aut.</sZ></inist:fA14><country>Italie</country></affiliation></author><author><name sortKey="Aurora Canessa, M" sort="Aurora Canessa, M" uniqKey="Aurora Canessa M" first="M." last="Aurora Canessa">M. Aurora Canessa</name><affiliation wicri:level="1"><inist:fA14 i1="12"><s1>Linares Hospital</s1><s2>Maule Region</s2><s3>CHL</s3><sZ>14 aut.</sZ></inist:fA14><country>Chili</country></affiliation></author><author><name sortKey="Danderfer, Ron" sort="Danderfer, Ron" uniqKey="Danderfer R" first="Ron" last="Danderfer">Ron Danderfer</name><affiliation wicri:level="1"><inist:fA14 i1="13"><s1>Health Status Registry, BC Vital Statistics Agency</s1><s2>Victoria, British Columbia</s2><s3>CAN</s3><sZ>15 aut.</sZ></inist:fA14><country>Canada</country></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"><inist:fA14 i1="14"><s1>EUROCAT Northern Netherlands, Department of Genetics, University Medical Center Groningen, University of Groningen</s1><s2>Groningen</s2><s3>NLD</s3><sZ>16 aut.</sZ></inist:fA14><country>Pays-Bas</country></affiliation></author><author><name sortKey="Harris, John" sort="Harris, John" uniqKey="Harris J" first="John" last="Harris">John Harris</name><affiliation wicri:level="1"><inist:fA14 i1="15"><s1>California Birth Defects Monitoring Program, California Department of Health Services</s1><s2>Oakland, California</s2><s3>USA</s3><sZ>17 aut.</sZ></inist:fA14><country>États-Unis</country></affiliation></author><author><name sortKey="Zhu Li" sort="Zhu Li" uniqKey="Zhu Li" last="Zhu Li">ZHU LI</name><affiliation wicri:level="1"><inist:fA14 i1="16"><s1>China National Centre for Maternal and Infant Health, Beijing Medical University</s1><s2>Beijing</s2><s3>CHN</s3><sZ>18 aut.</sZ></inist:fA14><country>République populaire de Chine</country></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"><inist:fA14 i1="17"><s1>Department of Medical Genetics, Alberta Children Hospital</s1><s2>Calgary, Alberta</s2><s3>CAN</s3><sZ>19 aut.</sZ></inist:fA14><country>Canada</country></affiliation></author><author><name sortKey="Mcdonell, Robert" sort="Mcdonell, Robert" uniqKey="Mcdonell R" first="Robert" last="Mcdonell">Robert Mcdonell</name><affiliation wicri:level="1"><inist:fA14 i1="18"><s1>Departement of Public Health, Eastern Regional Health Authority, Dr. Steven's Hospital</s1><s2>Dublin</s2><s3>IRL</s3><sZ>20 aut.</sZ></inist:fA14><country>Irlande (pays)</country></affiliation></author><author><name sortKey="Mcrlob, Paul" sort="Mcrlob, Paul" uniqKey="Mcrlob P" first="Paul" last="Mcrlob">Paul Mcrlob</name><affiliation wicri:level="1"><inist:fA14 i1="19"><s1>Department of Neonatology, Rabin Medical Center, Beilinson Campus</s1><s2>Petah Tikva</s2><s3>ISR</s3><sZ>21 aut.</sZ></inist:fA14><country>Israël</country></affiliation></author><author><name sortKey="Metneki, Julia" sort="Metneki, Julia" uniqKey="Metneki J" first="Julia" last="Metneki">Julia Metneki</name><affiliation wicri:level="1"><inist:fA14 i1="20"><s1>Department of Human Genetics and Teratology, National Center for Epidemiology, Gyali</s1><s2>Budapest</s2><s3>HUN</s3><sZ>22 aut.</sZ></inist:fA14><country>Hongrie</country></affiliation></author><author><name sortKey="Mutchinick, Osvaldo" sort="Mutchinick, Osvaldo" uniqKey="Mutchinick O" first="Osvaldo" last="Mutchinick">Osvaldo Mutchinick</name><affiliation wicri:level="1"><inist:fA14 i1="21"><s1>RYVEMCE, Department of Genetics, National Institute of Medical Sciences and Nutrition Salvador Zuhiran</s1><s2>Mexico City</s2><s3>MEX</s3><sZ>23 aut.</sZ></inist:fA14><country>Mexique</country></affiliation></author><author><name sortKey="Robert Gnansia, Elisabeth" sort="Robert Gnansia, Elisabeth" uniqKey="Robert Gnansia E" first="Elisabeth" last="Robert-Gnansia">Elisabeth Robert-Gnansia</name><affiliation wicri:level="1"><inist:fA14 i1="22"><s1>Institut Européen Les Génomutations</s1><s2>Lyon</s2><s3>FRA</s3><sZ>24 aut.</sZ></inist:fA14><country>France</country></affiliation></author><author><name sortKey="Scarano, Gioacchino" sort="Scarano, Gioacchino" uniqKey="Scarano G" first="Gioacchino" last="Scarano">Gioacchino Scarano</name><affiliation wicri:level="1"><inist:fA14 i1="23"><s1>Osservatorio Epidemiologico Regionale, Assessorato alia Sanita-Regione Campania</s1><s2>Naples</s2><s3>ITA</s3><sZ>25 aut.</sZ></inist:fA14><country>Italie</country></affiliation></author><author><name sortKey="Sipek, Antonin" sort="Sipek, Antonin" uniqKey="Sipek A" first="Antonin" last="Sipek">Antonin Sipek</name><affiliation wicri:level="1"><inist:fA14 i1="24"><s1>Deppartment of Population Teratology, Institute for Care of Mother and Child</s1><s2>Prague</s2><s3>CZE</s3><sZ>26 aut.</sZ></inist:fA14><country>République tchèque</country></affiliation></author><author><name sortKey="Potzsch, Simone" sort="Potzsch, Simone" uniqKey="Potzsch S" first="Simone" last="Pötzsch">Simone Pötzsch</name><affiliation wicri:level="1"><inist:fA14 i1="25"><s1>Malformation Monitoring Saxony-Anhalt, Faculty of Medicine, Otto-von-Guericke University</s1><s2>Magdeburg</s2><s3>DEU</s3><sZ>27 aut.</sZ></inist:fA14><country>Allemagne</country></affiliation></author><author><name sortKey="Szabova, Elena" sort="Szabova, Elena" uniqKey="Szabova E" first="Elena" last="Szabova">Elena Szabova</name></author><author><name sortKey="Yevtushok, Lyubov" sort="Yevtushok, Lyubov" uniqKey="Yevtushok L" first="Lyubov" last="Yevtushok">Lyubov Yevtushok</name></author></titleStmt><publicationStmt><idno type="wicri:source">INIST</idno><idno type="inist">07-0188444</idno><date when="2007">2007</date><idno type="stanalyst">PASCAL 07-0188444 INIST</idno><idno type="RBID">Pascal:07-0188444</idno><idno type="wicri:Area/PascalFrancis/Corpus">003D05</idno><idno type="wicri:Area/PascalFrancis/Curation">002383</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Gastroschisis and associated defects : An international study. Commentary : Gastroschisis</title><author><name sortKey="Opitz, John M" sort="Opitz, John M" uniqKey="Opitz J" first="John M." last="Opitz">John M. Opitz</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Pediatrics (Medical Genetics), Human Genetics, Obstetrics And Gynecology, Pathology, School of Medicine, University of Utah</s1><s2>Salt Lake City, Utah</s2><s3>USA</s3><sZ>1 aut.</sZ></inist:fA14><country>États-Unis</country></affiliation></author><author><name sortKey="Mastroiacovo, Pierpaolo" sort="Mastroiacovo, Pierpaolo" uniqKey="Mastroiacovo P" first="Pierpaolo" last="Mastroiacovo">Pierpaolo Mastroiacovo</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Centre of the International Clearinghouse for Birth Defects Surveillance and Research</s1><s2>Rome</s2><s3>ITA</s3><sZ>2 aut.</sZ><sZ>3 aut.</sZ></inist:fA14><country>Italie</country></affiliation></author><author><name sortKey="Lisi, Alessandra" sort="Lisi, Alessandra" uniqKey="Lisi A" first="Alessandra" last="Lisi">Alessandra Lisi</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Centre of the International Clearinghouse for Birth Defects Surveillance and Research</s1><s2>Rome</s2><s3>ITA</s3><sZ>2 aut.</sZ><sZ>3 aut.</sZ></inist:fA14><country>Italie</country></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"><inist:fA14 i1="03"><s1>ECLAMC. Dept . Genetica/FIOCRUZ</s1><s2>Rio De Janeiro</s2><s3>BRA</s3><sZ>4 aut.</sZ></inist:fA14><country>Brésil</country></affiliation></author><author><name sortKey="Martinez Frias, Maria Luisa" sort="Martinez Frias, Maria Luisa" uniqKey="Martinez Frias M" first="Maria-Luisa" last="Martinez-Frias">Maria-Luisa Martinez-Frias</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>ECEMC, Centro tie Investigación sobre Anomalías Congénitas (CIAC), Institute) de Salud Carlos III</s1><s2>Madrid</s2><s3>ESP</s3><sZ>5 aut.</sZ><sZ>6 aut.</sZ></inist:fA14><country>Espagne</country></affiliation><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Department of Pharmacology, Faculty of Medicine, Universidad Compkitense</s1><s2>Madrid</s2><s3>ESP</s3><sZ>5 aut.</sZ></inist:fA14><country>Espagne</country></affiliation></author><author><name sortKey="Bermejo, Eva" sort="Bermejo, Eva" uniqKey="Bermejo E" first="Eva" last="Bermejo">Eva Bermejo</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>ECEMC, Centro tie Investigación sobre Anomalías Congénitas (CIAC), Institute) de Salud Carlos III</s1><s2>Madrid</s2><s3>ESP</s3><sZ>5 aut.</sZ><sZ>6 aut.</sZ></inist:fA14><country>Espagne</country></affiliation></author><author><name sortKey="Marengo, Lisa" sort="Marengo, Lisa" uniqKey="Marengo L" first="Lisa" last="Marengo">Lisa Marengo</name><affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Birth Defects Epidemiology and Surveillance Branch, Texas Department of State Health Services</s1><s2>Austin, Texas</s2><s3>USA</s3><sZ>7 aut.</sZ></inist:fA14><country>États-Unis</country></affiliation></author><author><name sortKey="Kucik, Jim" sort="Kucik, Jim" uniqKey="Kucik J" first="Jim" last="Kucik">Jim Kucik</name><affiliation wicri:level="1"><inist:fA14 i1="07"><s1>National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention</s1><s2>Atlanta, Georgia</s2><s3>USA</s3><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>États-Unis</country></affiliation></author><author><name sortKey="Siffel, Csaba" sort="Siffel, Csaba" uniqKey="Siffel C" first="Csaba" last="Siffel">Csaba Siffel</name><affiliation wicri:level="1"><inist:fA14 i1="07"><s1>National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention</s1><s2>Atlanta, Georgia</s2><s3>USA</s3><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>États-Unis</country></affiliation></author><author><name sortKey="Halliday, Jane" sort="Halliday, Jane" uniqKey="Halliday J" first="Jane" last="Halliday">Jane Halliday</name><affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Birth Defects Register, Perinatal Data Collection Unit</s1><s2>Melbourne, Victoria</s2><s3>AUS</s3><sZ>10 aut.</sZ></inist:fA14><country>Australie</country></affiliation></author><author><name sortKey="Gatt, Miriam" sort="Gatt, Miriam" uniqKey="Gatt M" first="Miriam" last="Gatt">Miriam Gatt</name><affiliation wicri:level="1"><inist:fA14 i1="09"><s1>Malta Congenital Anomalies Registry Department of Health Information</s1><s2>Guardamangia</s2><s3>MLT</s3><sZ>11 aut.</sZ></inist:fA14><country>Malte</country></affiliation></author><author><name sortKey="Anneren, Goran" sort="Anneren, Goran" uniqKey="Anneren G" first="Göran" last="Anneren">Göran Anneren</name><affiliation wicri:level="1"><inist:fA14 i1="10"><s1>Department of Clinical Genetics, Uppsala University Children's Hospital</s1><s2>Uppsala</s2><s3>SWE</s3><sZ>12 aut.</sZ></inist:fA14><country>Suède</country></affiliation></author><author><name sortKey="Bianchi, Fabrizio" sort="Bianchi, Fabrizio" uniqKey="Bianchi F" first="Fabrizio" last="Bianchi">Fabrizio Bianchi</name><affiliation wicri:level="1"><inist:fA14 i1="11"><s1>Sezione di Epidemiologia e Biostatistica, Istituto di Fisiologia Clinica del Consiglio Naxionale delle Ricerche</s1><s2>Pisa</s2><s3>ITA</s3><sZ>13 aut.</sZ></inist:fA14><country>Italie</country></affiliation></author><author><name sortKey="Aurora Canessa, M" sort="Aurora Canessa, M" uniqKey="Aurora Canessa M" first="M." last="Aurora Canessa">M. Aurora Canessa</name><affiliation wicri:level="1"><inist:fA14 i1="12"><s1>Linares Hospital</s1><s2>Maule Region</s2><s3>CHL</s3><sZ>14 aut.</sZ></inist:fA14><country>Chili</country></affiliation></author><author><name sortKey="Danderfer, Ron" sort="Danderfer, Ron" uniqKey="Danderfer R" first="Ron" last="Danderfer">Ron Danderfer</name><affiliation wicri:level="1"><inist:fA14 i1="13"><s1>Health Status Registry, BC Vital Statistics Agency</s1><s2>Victoria, British Columbia</s2><s3>CAN</s3><sZ>15 aut.</sZ></inist:fA14><country>Canada</country></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"><inist:fA14 i1="14"><s1>EUROCAT Northern Netherlands, Department of Genetics, University Medical Center Groningen, University of Groningen</s1><s2>Groningen</s2><s3>NLD</s3><sZ>16 aut.</sZ></inist:fA14><country>Pays-Bas</country></affiliation></author><author><name sortKey="Harris, John" sort="Harris, John" uniqKey="Harris J" first="John" last="Harris">John Harris</name><affiliation wicri:level="1"><inist:fA14 i1="15"><s1>California Birth Defects Monitoring Program, California Department of Health Services</s1><s2>Oakland, California</s2><s3>USA</s3><sZ>17 aut.</sZ></inist:fA14><country>États-Unis</country></affiliation></author><author><name sortKey="Zhu Li" sort="Zhu Li" uniqKey="Zhu Li" last="Zhu Li">ZHU LI</name><affiliation wicri:level="1"><inist:fA14 i1="16"><s1>China National Centre for Maternal and Infant Health, Beijing Medical University</s1><s2>Beijing</s2><s3>CHN</s3><sZ>18 aut.</sZ></inist:fA14><country>République populaire de Chine</country></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"><inist:fA14 i1="17"><s1>Department of Medical Genetics, Alberta Children Hospital</s1><s2>Calgary, Alberta</s2><s3>CAN</s3><sZ>19 aut.</sZ></inist:fA14><country>Canada</country></affiliation></author><author><name sortKey="Mcdonell, Robert" sort="Mcdonell, Robert" uniqKey="Mcdonell R" first="Robert" last="Mcdonell">Robert Mcdonell</name><affiliation wicri:level="1"><inist:fA14 i1="18"><s1>Departement of Public Health, Eastern Regional Health Authority, Dr. Steven's Hospital</s1><s2>Dublin</s2><s3>IRL</s3><sZ>20 aut.</sZ></inist:fA14><country>Irlande (pays)</country></affiliation></author><author><name sortKey="Mcrlob, Paul" sort="Mcrlob, Paul" uniqKey="Mcrlob P" first="Paul" last="Mcrlob">Paul Mcrlob</name><affiliation wicri:level="1"><inist:fA14 i1="19"><s1>Department of Neonatology, Rabin Medical Center, Beilinson Campus</s1><s2>Petah Tikva</s2><s3>ISR</s3><sZ>21 aut.</sZ></inist:fA14><country>Israël</country></affiliation></author><author><name sortKey="Metneki, Julia" sort="Metneki, Julia" uniqKey="Metneki J" first="Julia" last="Metneki">Julia Metneki</name><affiliation wicri:level="1"><inist:fA14 i1="20"><s1>Department of Human Genetics and Teratology, National Center for Epidemiology, Gyali</s1><s2>Budapest</s2><s3>HUN</s3><sZ>22 aut.</sZ></inist:fA14><country>Hongrie</country></affiliation></author><author><name sortKey="Mutchinick, Osvaldo" sort="Mutchinick, Osvaldo" uniqKey="Mutchinick O" first="Osvaldo" last="Mutchinick">Osvaldo Mutchinick</name><affiliation wicri:level="1"><inist:fA14 i1="21"><s1>RYVEMCE, Department of Genetics, National Institute of Medical Sciences and Nutrition Salvador Zuhiran</s1><s2>Mexico City</s2><s3>MEX</s3><sZ>23 aut.</sZ></inist:fA14><country>Mexique</country></affiliation></author><author><name sortKey="Robert Gnansia, Elisabeth" sort="Robert Gnansia, Elisabeth" uniqKey="Robert Gnansia E" first="Elisabeth" last="Robert-Gnansia">Elisabeth Robert-Gnansia</name><affiliation wicri:level="1"><inist:fA14 i1="22"><s1>Institut Européen Les Génomutations</s1><s2>Lyon</s2><s3>FRA</s3><sZ>24 aut.</sZ></inist:fA14><country>France</country></affiliation></author><author><name sortKey="Scarano, Gioacchino" sort="Scarano, Gioacchino" uniqKey="Scarano G" first="Gioacchino" last="Scarano">Gioacchino Scarano</name><affiliation wicri:level="1"><inist:fA14 i1="23"><s1>Osservatorio Epidemiologico Regionale, Assessorato alia Sanita-Regione Campania</s1><s2>Naples</s2><s3>ITA</s3><sZ>25 aut.</sZ></inist:fA14><country>Italie</country></affiliation></author><author><name sortKey="Sipek, Antonin" sort="Sipek, Antonin" uniqKey="Sipek A" first="Antonin" last="Sipek">Antonin Sipek</name><affiliation wicri:level="1"><inist:fA14 i1="24"><s1>Deppartment of Population Teratology, Institute for Care of Mother and Child</s1><s2>Prague</s2><s3>CZE</s3><sZ>26 aut.</sZ></inist:fA14><country>République tchèque</country></affiliation></author><author><name sortKey="Potzsch, Simone" sort="Potzsch, Simone" uniqKey="Potzsch S" first="Simone" last="Pötzsch">Simone Pötzsch</name><affiliation wicri:level="1"><inist:fA14 i1="25"><s1>Malformation Monitoring Saxony-Anhalt, Faculty of Medicine, Otto-von-Guericke University</s1><s2>Magdeburg</s2><s3>DEU</s3><sZ>27 aut.</sZ></inist:fA14><country>Allemagne</country></affiliation></author><author><name sortKey="Szabova, Elena" sort="Szabova, Elena" uniqKey="Szabova E" first="Elena" last="Szabova">Elena Szabova</name></author><author><name sortKey="Yevtushok, Lyubov" sort="Yevtushok, Lyubov" uniqKey="Yevtushok L" first="Lyubov" last="Yevtushok">Lyubov Yevtushok</name></author></analytic><series><title level="j" type="main">American journal of medical genetics. Part A</title><title level="j" type="abbreviated">Am. j. med. genet., Part A</title><idno type="ISSN">1552-4825</idno><imprint><date when="2007">2007</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">American journal of medical genetics. Part A</title><title level="j" type="abbreviated">Am. j. med. genet., Part A</title><idno type="ISSN">1552-4825</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Abdominal wall</term><term>Gastrochisis</term><term>Malformation</term><term>Multiple</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Gastroschisis</term><term>Multiple</term><term>Malformation</term><term>Paroi abdominale</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%), cardiovascular (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 he 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 micelle 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-hy-case review.</div></front></TEI><inist><standard h6="B"><pA><fA01 i1="01" i2="1"><s0>1552-4825</s0></fA01><fA03 i2="1"><s0>Am. j. med. genet., Part A</s0></fA03><fA05><s2>143</s2></fA05><fA06><s2>7</s2></fA06><fA08 i1="01" i2="1" l="ENG"><s1>Gastroschisis and associated defects : An international study. Commentary : Gastroschisis</s1></fA08><fA11 i1="01" i2="1"><s1>OPITZ (John M.)</s1><s9>comment.</s9></fA11><fA11 i1="02" i2="1"><s1>MASTROIACOVO (Pierpaolo)</s1></fA11><fA11 i1="03" i2="1"><s1>LISI (Alessandra)</s1></fA11><fA11 i1="04" i2="1"><s1>CASTILLA (Eduardo E.)</s1></fA11><fA11 i1="05" i2="1"><s1>MARTINEZ-FRIAS (Maria-Luisa)</s1></fA11><fA11 i1="06" i2="1"><s1>BERMEJO (Eva)</s1></fA11><fA11 i1="07" i2="1"><s1>MARENGO (Lisa)</s1></fA11><fA11 i1="08" i2="1"><s1>KUCIK (Jim)</s1></fA11><fA11 i1="09" i2="1"><s1>SIFFEL (Csaba)</s1></fA11><fA11 i1="10" i2="1"><s1>HALLIDAY (Jane)</s1></fA11><fA11 i1="11" i2="1"><s1>GATT (Miriam)</s1></fA11><fA11 i1="12" i2="1"><s1>ANNEREN (Göran)</s1></fA11><fA11 i1="13" i2="1"><s1>BIANCHI (Fabrizio)</s1></fA11><fA11 i1="14" i2="1"><s1>AURORA CANESSA (M.)</s1></fA11><fA11 i1="15" i2="1"><s1>DANDERFER (Ron)</s1></fA11><fA11 i1="16" i2="1"><s1>DE WALLE (Hermien)</s1></fA11><fA11 i1="17" i2="1"><s1>HARRIS (John)</s1></fA11><fA11 i1="18" i2="1"><s1>ZHU LI</s1></fA11><fA11 i1="19" i2="1"><s1>LOWRY (R. Brian)</s1></fA11><fA11 i1="20" i2="1"><s1>MCDONELL (Robert)</s1></fA11><fA11 i1="21" i2="1"><s1>MCRLOB (Paul)</s1></fA11><fA11 i1="22" i2="1"><s1>METNEKI (Julia)</s1></fA11><fA11 i1="23" i2="1"><s1>MUTCHINICK (Osvaldo)</s1></fA11><fA11 i1="24" i2="1"><s1>ROBERT-GNANSIA (Elisabeth)</s1></fA11><fA11 i1="25" i2="1"><s1>SCARANO (Gioacchino)</s1></fA11><fA11 i1="26" i2="1"><s1>SIPEK (Antonin)</s1></fA11><fA11 i1="27" i2="1"><s1>PÖTZSCH (Simone)</s1></fA11><fA11 i1="28" i2="1"><s1>SZABOVA (Elena)</s1></fA11><fA11 i1="29" i2="1"><s1>YEVTUSHOK (Lyubov)</s1></fA11><fA14 i1="01"><s1>Pediatrics (Medical Genetics), Human Genetics, Obstetrics And Gynecology, Pathology, School of Medicine, University of Utah</s1><s2>Salt Lake City, Utah</s2><s3>USA</s3><sZ>1 aut.</sZ></fA14><fA14 i1="02"><s1>Centre of the International Clearinghouse for Birth Defects Surveillance and Research</s1><s2>Rome</s2><s3>ITA</s3><sZ>2 aut.</sZ><sZ>3 aut.</sZ></fA14><fA14 i1="03"><s1>ECLAMC. Dept . Genetica/FIOCRUZ</s1><s2>Rio De Janeiro</s2><s3>BRA</s3><sZ>4 aut.</sZ></fA14><fA14 i1="04"><s1>ECEMC, Centro tie Investigación sobre Anomalías Congénitas (CIAC), Institute) de Salud Carlos III</s1><s2>Madrid</s2><s3>ESP</s3><sZ>5 aut.</sZ><sZ>6 aut.</sZ></fA14><fA14 i1="05"><s1>Department of Pharmacology, Faculty of Medicine, Universidad Compkitense</s1><s2>Madrid</s2><s3>ESP</s3><sZ>5 aut.</sZ></fA14><fA14 i1="06"><s1>Birth Defects Epidemiology and Surveillance Branch, Texas Department of State Health Services</s1><s2>Austin, Texas</s2><s3>USA</s3><sZ>7 aut.</sZ></fA14><fA14 i1="07"><s1>National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention</s1><s2>Atlanta, Georgia</s2><s3>USA</s3><sZ>8 aut.</sZ><sZ>9 aut.</sZ></fA14><fA14 i1="08"><s1>Birth Defects Register, Perinatal Data Collection Unit</s1><s2>Melbourne, Victoria</s2><s3>AUS</s3><sZ>10 aut.</sZ></fA14><fA14 i1="09"><s1>Malta Congenital Anomalies Registry Department of Health Information</s1><s2>Guardamangia</s2><s3>MLT</s3><sZ>11 aut.</sZ></fA14><fA14 i1="10"><s1>Department of Clinical Genetics, Uppsala University Children's Hospital</s1><s2>Uppsala</s2><s3>SWE</s3><sZ>12 aut.</sZ></fA14><fA14 i1="11"><s1>Sezione di Epidemiologia e Biostatistica, Istituto di Fisiologia Clinica del Consiglio Naxionale delle Ricerche</s1><s2>Pisa</s2><s3>ITA</s3><sZ>13 aut.</sZ></fA14><fA14 i1="12"><s1>Linares Hospital</s1><s2>Maule Region</s2><s3>CHL</s3><sZ>14 aut.</sZ></fA14><fA14 i1="13"><s1>Health Status Registry, BC Vital Statistics Agency</s1><s2>Victoria, British Columbia</s2><s3>CAN</s3><sZ>15 aut.</sZ></fA14><fA14 i1="14"><s1>EUROCAT Northern Netherlands, Department of Genetics, University Medical Center Groningen, University of Groningen</s1><s2>Groningen</s2><s3>NLD</s3><sZ>16 aut.</sZ></fA14><fA14 i1="15"><s1>California Birth Defects Monitoring Program, California Department of Health Services</s1><s2>Oakland, California</s2><s3>USA</s3><sZ>17 aut.</sZ></fA14><fA14 i1="16"><s1>China National Centre for Maternal and Infant Health, Beijing Medical University</s1><s2>Beijing</s2><s3>CHN</s3><sZ>18 aut.</sZ></fA14><fA14 i1="17"><s1>Department of Medical Genetics, Alberta Children Hospital</s1><s2>Calgary, Alberta</s2><s3>CAN</s3><sZ>19 aut.</sZ></fA14><fA14 i1="18"><s1>Departement of Public Health, Eastern Regional Health Authority, Dr. Steven's Hospital</s1><s2>Dublin</s2><s3>IRL</s3><sZ>20 aut.</sZ></fA14><fA14 i1="19"><s1>Department of Neonatology, Rabin Medical Center, Beilinson Campus</s1><s2>Petah Tikva</s2><s3>ISR</s3><sZ>21 aut.</sZ></fA14><fA14 i1="20"><s1>Department of Human Genetics and Teratology, National Center for Epidemiology, Gyali</s1><s2>Budapest</s2><s3>HUN</s3><sZ>22 aut.</sZ></fA14><fA14 i1="21"><s1>RYVEMCE, Department of Genetics, National Institute of Medical Sciences and Nutrition Salvador Zuhiran</s1><s2>Mexico City</s2><s3>MEX</s3><sZ>23 aut.</sZ></fA14><fA14 i1="22"><s1>Institut Européen Les Génomutations</s1><s2>Lyon</s2><s3>FRA</s3><sZ>24 aut.</sZ></fA14><fA14 i1="23"><s1>Osservatorio Epidemiologico Regionale, Assessorato alia Sanita-Regione Campania</s1><s2>Naples</s2><s3>ITA</s3><sZ>25 aut.</sZ></fA14><fA14 i1="24"><s1>Deppartment of Population Teratology, Institute for Care of Mother and Child</s1><s2>Prague</s2><s3>CZE</s3><sZ>26 aut.</sZ></fA14><fA14 i1="25"><s1>Malformation Monitoring Saxony-Anhalt, Faculty of Medicine, Otto-von-Guericke University</s1><s2>Magdeburg</s2><s3>DEU</s3><sZ>27 aut.</sZ></fA14><fA20><s2>635-638,660-671 [16 p.]</s2></fA20><fA21><s1>2007</s1></fA21><fA23 i1="01"><s0>ENG</s0></fA23><fA43 i1="01"><s1>INIST</s1><s2>17405A</s2><s5>354000147125260030</s5></fA43><fA44><s0>0000</s0><s1>© 2007 INIST-CNRS. All rights reserved.</s1></fA44><fA45><s0>1 p.1/4</s0></fA45><fA47 i1="01" i2="1"><s0>07-0188444</s0></fA47><fA60><s1>P</s1><s3>AR</s3><s3>CT</s3></fA60><fA61><s0>A</s0></fA61><fA64 i1="01" i2="1"><s0>American journal of medical genetics. Part A</s0></fA64><fA66 i1="01"><s0>USA</s0></fA66><fC01 i1="01" l="ENG"><s0>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%), cardiovascular (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 he 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 micelle 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-hy-case review.</s0></fC01><fC02 i1="01" i2="X"><s0>002B23</s0></fC02><fC03 i1="01" i2="X" l="FRE"><s0>Gastroschisis</s0><s5>01</s5></fC03><fC03 i1="01" i2="X" l="ENG"><s0>Gastrochisis</s0><s5>01</s5></fC03><fC03 i1="01" i2="X" l="SPA"><s0>Gastroquisis</s0><s5>01</s5></fC03><fC03 i1="02" i2="X" l="FRE"><s0>Multiple</s0><s5>09</s5></fC03><fC03 i1="02" i2="X" l="ENG"><s0>Multiple</s0><s5>09</s5></fC03><fC03 i1="02" i2="X" l="SPA"><s0>Múltiple</s0><s5>09</s5></fC03><fC03 i1="03" i2="X" l="FRE"><s0>Malformation</s0><s5>10</s5></fC03><fC03 i1="03" i2="X" l="ENG"><s0>Malformation</s0><s5>10</s5></fC03><fC03 i1="03" i2="X" l="SPA"><s0>Malformación</s0><s5>10</s5></fC03><fC03 i1="04" i2="X" l="FRE"><s0>Paroi abdominale</s0><s5>78</s5></fC03><fC03 i1="04" i2="X" l="ENG"><s0>Abdominal wall</s0><s5>78</s5></fC03><fC03 i1="04" i2="X" l="SPA"><s0>Pared abdominal</s0><s5>78</s5></fC03><fC07 i1="01" i2="X" l="FRE"><s0>Abdomen pathologie</s0><s5>37</s5></fC07><fC07 i1="01" i2="X" l="ENG"><s0>Abdominal disease</s0><s5>37</s5></fC07><fC07 i1="01" i2="X" l="SPA"><s0>Abdomen patología</s0><s5>37</s5></fC07><fN21><s1>128</s1></fN21><fN44 i1="01"><s1>OTO</s1></fN44><fN82><s1>OTO</s1></fN82></pA></standard></inist></record>Pour manipuler ce document sous Unix (Dilib)
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