Gastroschisis and associated defects: an international study.

Hdl Handle:
http://hdl.handle.net/10147/324055
Title:
Gastroschisis and associated defects: an international study.
Authors:
Mastroiacovo, Pierpaolo; Lisi, Alessandra; Castilla, Eduardo E; Martínez-Frías, María-Luisa; Bermejo, Eva; Marengo, Lisa; Kucik, Jim; Siffel, Csaba; Halliday, Jane; Gatt, Miriam; Annerèn, Göran; Bianchi, Fabrizio; Canessa, M Aurora; Danderfer, Ron; de Walle, Hermien; Harris, John; Li, Zhu; Lowry, R Brian; McDonell, Robert; Merlob, Paul; Metneki, Julia; Mutchinick, Osvaldo; Robert-Gnansia, Elisabeth; Scarano, Gioacchino; Sipek, Antonin; Pötzsch, Simone; Szabova, Elena; Yevtushok, Lyubov
Affiliation:
Centre of the International Clearinghouse for Birth Defects Surveillance and Research, Rome, Italy. icbd@icbd.org
Citation:
Mastroiacovo P et al. Gastroschisis and associated defects: an international study. Am. J. Med. Genet. A 2007, 143 (7):660-71
Journal:
American journal of medical genetics. Part A
Issue Date:
1-Apr-2007
URI:
http://hdl.handle.net/10147/324055
DOI:
10.1002/ajmg.a.31607
PubMed ID:
17357116
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.
Item Type:
Article
Language:
en
Description:
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.
Keywords:
GENETICS
Local subject classification:
BIRTH DEFECTS; ABDOMEN
MeSH:
Abnormalities, Multiple; Adult; Female; Gastroschisis; Humans
ISSN:
1552-4825

Full metadata record

DC FieldValue Language
dc.contributor.authorMastroiacovo, Pierpaoloen_GB
dc.contributor.authorLisi, Alessandraen_GB
dc.contributor.authorCastilla, Eduardo Een_GB
dc.contributor.authorMartínez-Frías, María-Luisaen_GB
dc.contributor.authorBermejo, Evaen_GB
dc.contributor.authorMarengo, Lisaen_GB
dc.contributor.authorKucik, Jimen_GB
dc.contributor.authorSiffel, Csabaen_GB
dc.contributor.authorHalliday, Janeen_GB
dc.contributor.authorGatt, Miriamen_GB
dc.contributor.authorAnnerèn, Göranen_GB
dc.contributor.authorBianchi, Fabrizioen_GB
dc.contributor.authorCanessa, M Auroraen_GB
dc.contributor.authorDanderfer, Ronen_GB
dc.contributor.authorde Walle, Hermienen_GB
dc.contributor.authorHarris, Johnen_GB
dc.contributor.authorLi, Zhuen_GB
dc.contributor.authorLowry, R Brianen_GB
dc.contributor.authorMcDonell, Roberten_GB
dc.contributor.authorMerlob, Paulen_GB
dc.contributor.authorMetneki, Juliaen_GB
dc.contributor.authorMutchinick, Osvaldoen_GB
dc.contributor.authorRobert-Gnansia, Elisabethen_GB
dc.contributor.authorScarano, Gioacchinoen_GB
dc.contributor.authorSipek, Antoninen_GB
dc.contributor.authorPötzsch, Simoneen_GB
dc.contributor.authorSzabova, Elenaen_GB
dc.contributor.authorYevtushok, Lyuboven_GB
dc.date.accessioned2014-07-31T14:13:04Z-
dc.date.available2014-07-31T14:13:04Z-
dc.date.issued2007-04-01-
dc.identifier.citationMastroiacovo P et al. Gastroschisis and associated defects: an international study. Am. J. Med. Genet. A 2007, 143 (7):660-71en_GB
dc.identifier.issn1552-4825-
dc.identifier.pmid17357116-
dc.identifier.doi10.1002/ajmg.a.31607-
dc.identifier.urihttp://hdl.handle.net/10147/324055-
dc.descriptionOur 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.en_GB
dc.description.abstractOur 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.-
dc.language.isoenen
dc.rightsArchived with thanks to American journal of medical genetics. Part Aen_GB
dc.subjectGENETICSen_GB
dc.subject.meshAbnormalities, Multiple-
dc.subject.meshAdult-
dc.subject.meshFemale-
dc.subject.meshGastroschisis-
dc.subject.meshHumans-
dc.subject.otherBIRTH DEFECTSen_GB
dc.subject.otherABDOMENen_GB
dc.titleGastroschisis and associated defects: an international study.en_GB
dc.typeArticleen
dc.contributor.departmentCentre of the International Clearinghouse for Birth Defects Surveillance and Research, Rome, Italy. icbd@icbd.orgen_GB
dc.identifier.journalAmerican journal of medical genetics. Part Aen_GB

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