title: Gastroschisis and associated defects: an international study.
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.
authors.affiliation: Centre of the International Clearinghouse for Birth Defects Surveillance and Research, Rome, Italy. icbd@icbd.org
authors.forename: Pierpaolo
authors.initials: P
authors.lastname: Mastroiacovo
authors.forename: Alessandra
authors.initials: A
authors.lastname: Lisi
authors.forename: Eduardo E
authors.initials: EE
authors.lastname: Castilla
authors.forename: María-Luisa
authors.initials: ML
authors.lastname: Martínez-Frías
authors.forename: Eva
authors.initials: E
authors.lastname: Bermejo
authors.forename: Lisa
authors.initials: L
authors.lastname: Marengo
authors.forename: Jim
authors.initials: J
authors.lastname: Kucik
authors.forename: Csaba
authors.initials: C
authors.lastname: Siffel
authors.forename: Jane
authors.initials: J
authors.lastname: Halliday
authors.forename: Miriam
authors.initials: M
authors.lastname: Gatt
authors.forename: Göran
authors.initials: G
authors.lastname: Annerèn
authors.forename: Fabrizio
authors.initials: F
authors.lastname: Bianchi
authors.forename: M Aurora
authors.initials: MA
authors.lastname: Canessa
authors.forename: Ron
authors.initials: R
authors.lastname: Danderfer
authors.forename: Hermien
authors.initials: H
authors.lastname: de Walle
authors.forename: John
authors.initials: J
authors.lastname: Harris
authors.forename: Zhu
authors.initials: Z
authors.lastname: Li
authors.forename: R Brian
authors.initials: RB
authors.lastname: Lowry
authors.forename: Robert
authors.initials: R
authors.lastname: McDonell
authors.forename: Paul
authors.initials: P
authors.lastname: Merlob
authors.forename: Julia
authors.initials: J
authors.lastname: Metneki
authors.forename: Osvaldo
authors.initials: O
authors.lastname: Mutchinick
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Robert-Gnansia
authors.forename: Gioacchino
authors.initials: G
authors.lastname: Scarano
authors.forename: Antonin
authors.initials: A
authors.lastname: Sipek
authors.forename: Simone
authors.initials: S
authors.lastname: Pötzsch
authors.forename: Elena
authors.initials: E
authors.lastname: Szabova
authors.forename: Lyubov
authors.initials: L
authors.lastname: Yevtushok
mesh_terms: D000015:Abnormalities, Multiple / Q000453:epidemiology*; D000328:Adult; D005260:Female; D020139:Gastroschisis / Q000453:epidemiology*; D006801:Humans