http://www.cnr.it/ontology/cnr/individuo/prodotto/ID23878

Gastroschisis and associated defects: an international study (Articolo in rivista)

Type

Articolo in rivista (Classe)
Prodotto della ricerca (Classe)

Label

Gastroschisis and associated defects: an international study (Articolo in rivista) (literal)

Anno

2007-01-01T00:00:00+01:00 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi

10.1002/ajmg.a.31607 (literal)

Alternative label

Pierpaolo Mastroiacovo,1*; Alessandra Lisi,1; Eduardo E. Castilla,2; Maria-Luisa Martinez-Frias,3,4; Eva Bermejo,3; Lisa Marengo,5; Jim Kucik,6; Csaba Siffel,6; Jane Halliday,7; Miriam Gatt,8; Go¨ran Annere`n,9; Fabrizio Bianchi,10; M. Aurora Canessa,11; Ron Danderfer,12 Hermien de Walle,13; John Harris,14; Zhu Li,15; R. Brian Lowry,16; Robert McDonell,17; Paul Merlob,18; Julia Metneki,19; Osvaldo Mutchinick,20; Elisabeth Robert-Gnansia,21; Gioacchino Scarano,22; Antonin Sipek,23; Simone Po¨tzsch,24; Elena Szabova,25; and Lyubov Yevtushok,26; (2007)
Gastroschisis and associated defects: an international study
in American journal of medical genetics. Part A; WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, NJ 07030 (Stati Uniti d'America)
(literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori

Pierpaolo Mastroiacovo,1*; Alessandra Lisi,1; Eduardo E. Castilla,2; Maria-Luisa Martinez-Frias,3,4; Eva Bermejo,3; Lisa Marengo,5; Jim Kucik,6; Csaba Siffel,6; Jane Halliday,7; Miriam Gatt,8; Go¨ran Annere`n,9; Fabrizio Bianchi,10; M. Aurora Canessa,11; Ron Danderfer,12 Hermien de Walle,13; John Harris,14; Zhu Li,15; R. Brian Lowry,16; Robert McDonell,17; Paul Merlob,18; Julia Metneki,19; Osvaldo Mutchinick,20; Elisabeth Robert-Gnansia,21; Gioacchino Scarano,22; Antonin Sipek,23; Simone Po¨tzsch,24; Elena Szabova,25; and Lyubov Yevtushok,26; (literal)

Pagina inizio

660 (literal)

Pagina fine

671 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#url

http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.31607/pdf (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume

143 (literal)

Rivista

American journal of medical genetics. Part A (Rivista)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#note

In: American Journal of Medical Genetics Part A, vol. 7 (143) pp. 660 - 671. Wiley-Liss, 2007. (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#pagineTotali

12 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroFascicolo

7 (literal)

Note

PubMe (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni

1, Centre of the International Clearinghouse for Birth Defects Surveillance and Research, Rome, Italy; 2, ECLAMC/Dept. Genetica/FIOCRUZ, Rio De Janeiro, Brazil; 3, ECEMC, Centro de Investigacion sobre Anomalas Congenitas (CIAC), Instituto de Salud Carlos III, Madrid, Spain; 4, Department of Pharmacology, Faculty of Medicine, Universidad Complutense, Madrid, Spain; 5, Birth Defects Epidemiology and Surveillance Branch, Texas Department of State Health Services, Austin, Texas; 6, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia; 7, Birth Defects Register, Perinatal Data Collection Unit, Melbourne, Australia Victoria; 8, Malta Congenital Anomalies Registry, Department of Health Information, Guardamangia, Malta; 9, Department of Clinical Genetics, Uppsala University Children's Hospital, Uppsala, Sweden; 10, Sezione di Epidemiologia e Biostatistica, Istituto di Fisiologia Clinica del Consiglio Nazionale delle Ricerche, Pisa, Italy; 11, Linares Hospital, Maule Region, Chile; 12, Health Status Registry, BC Vital Statistics Agency, Victoria, British Columbia, Canada; 13, EUROCAT Northern Netherlands, Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, Netherlands; 14,California Birth Defects Monitoring Program, California Department of Health Services, Oakland, California; 15, China National Centre for Maternal and Infant Health, Beijing Medical University, Beijing, China; 16, Department of Medical Genetics, Alberta Children Hospital, Calgary, Alberta, Canada; 17, Department of Public Health, Eastern Regional Health Authority, Dr. Steven's Hospital, Dublin, Ireland; 18, Department of Neonatology, Rabin Medical Center, Beilinson Campus, Petah Tikva, Israel; 19, Department of Human Genetics and Teratology, National Center for Epidemiology, Gyali, Budapest, Hungary; 20, RYVEMCE, Department of Genetics, National Institute of Medical Sciences and Nutrition Salvador Zubiran, Mexico City, Mexico; 21, Institut Europe en des Genomutations, Lyon, France; 22, Osservatorio Epidemiologico Regionale, Assessorato alla Sanita`Regione Campania, Naples, Italy; 23, Department of Population Teratology, Institute for Care of Mother and Child, Prague, Czech Republic; 24, Malformation Monitoring Saxony-Anhalt, Faculty of Medicine, Otto-von-Guericke University, Magdeburg, Germany; 25, Slovak Medical University, Limbova 12, Bratislava, Slovak Republic; 26, Volyn Regional Children's Territorial Medical Center, Lutsk, Volyn, Ukraine (literal)

Titolo

Gastroschisis and associated defects: an international study (literal)

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. Caseby-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 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. (literal)

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