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    Gastroschisis and associated defects: an international study.

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    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
    Show allShow less
    Affiliation
    Centre of the International Clearinghouse for Birth Defects Surveillance and Research, Rome, Italy. icbd@icbd.org
    Issue Date
    2007-04-01
    Keywords
    GENETICS
    Local subject classification
    BIRTH DEFECTS
    ABDOMEN
    MeSH
    Abnormalities, Multiple
    Adult
    Female
    Gastroschisis
    Humans
    
    Metadata
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    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
    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
    ISSN
    1552-4825
    ae974a485f413a2113503eed53cd6c53
    10.1002/ajmg.a.31607
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