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.

Predicting Perinatal Outcome from Prenatal Ultrasound Characteristics in Pregnancies Complicated by Gastroschisis

“…The predictive value for adverse perinatal outcome of different thresholds of bowel dilatation at the last prenatal ultrasound has been previously studied [16,26,27,28,29,30,31,32,33,34,35]. Controversially, Page et al [36] in a recent systematic review concluded that IABD seen on an antenatal ultrasound scan is not a finding associated with an increased risk of adverse perinatal outcome.…”

Asociación de gastrosquisis y artrogriposis múltiple congénita: Clinical case

“…Recientemente, se ha señalado que la asociación de estas dos entidades pueda ser más frecuente de lo que clásicamente se ha descrito. En 2007, una publicación que evaluó las malformaciones asociadas a 3.322 pacientes con GQ de 24 registros europeos de malformaciones congénitas, se describió una prevalencia del 2,2% de defectos en extremidades, y concretamente del 0,7% para AMC 16 . En 2010, Pachajoa 8 describe un caso de asociación de GQ y AMC en España.…”

Fetal Abdominal Anomaliler

“…Gastroşizisin kromozom anomalisi ve gastrointestinal sistem dışı anomalilerle birlikteliği omfalosele oranla nadir olup yaklaşık %14 olarak bildirilmiştir [51]. Sıklıkla intrauterin gelişme geriliğinin de eşlik etmesi ve artmış fetal ölüm oranı nedeniyle olgulara yakın izlem gerekmektedir.…”

“…Amniotik bant sekansı ve ekstremite-gövde duvarı kompleksinin iki ayrı patoloji veya aynı sekansın farklı spektrumları olduğu konusunda görüş ayrılıkları bulunmaktadır [51]. Her ikisinin de etiyolojileri konusunda hipotezler mevcut olup son yıllarda genetik mutasyonların bulunduğu olgular da bildirilmiştir [52].…”