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Gastroschisis and associated defects: An international study

Identifieur interne : 009158 ( Main/Exploration ); précédent : 009157; suivant : 009159

Gastroschisis 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 :

RBID : ISTEX:12908013A799A37D1CB1A7B085EDF68C9E2ADDDA

Descripteurs français

English descriptors

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.

Url:
DOI: 10.1002/ajmg.a.31607


Affiliations:


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<pubPlace>Hoboken</pubPlace>
<date type="published" when="2007-04-01">2007-04-01</date>
</imprint>
<idno type="ISSN">1552-4825</idno>
</series>
</biblStruct>
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<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>
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<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>
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<li>Brésil</li>
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<li>Hongrie</li>
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<li>Malte</li>
<li>Mexique</li>
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<li>République populaire de Chine</li>
<li>République tchèque</li>
<li>Suède</li>
<li>Ukraine</li>
<li>États-Unis</li>
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<li>Bohême centrale</li>
<li>Californie</li>
<li>Communauté de Madrid</li>
<li>Groningue (province)</li>
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<li>Rhône-Alpes</li>
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<li>Prague</li>
<li>Pékin</li>
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<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>
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<name sortKey="Gatt, Miriam" sort="Gatt, Miriam" uniqKey="Gatt M" first="Miriam" last="Gatt">Miriam Gatt</name>
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