• Changing trend in congenital abdominal wall defects in Eastern region of Ireland.

      McDonnell, R; Delany, V; Dack, P; Johnson, H; Dublin EUROCAT Registry, Department of Public Health, Health Information Unit, Eastern Regional Health Authority, Dr Steeven's Hospital, Republic of Ireland. bobmcdonnell@erha.ie (2002-09)
      In the past six years, there have been reports from abroad of an unexplained rise in the birth prevalence rate of the congenital abdominal wall defect gastroschisis, while rates for the macroscopically similar anomaly omphalocoele have remained stable. The Dublin EUROCAT Registry of congenital anomalies monitors trends in the birth prevalence of birth defects in the eastern region of Ireland. We analysed births of children with omphalocoele and gastroschisis born in the period 1981-2000, with comparisons of a number of demographic and obstetric variables. During the 20 year period the birth prevalence rate for omphalocoele remained stable at 2.5/10,000 births, whereas the rate for gastroschisis increased significantly during the 1990s from 1.0/10,000 in 1991 to 4.9/10,000 in 2000. Most of the increase occurred among mothers under 25 years of age. Omphalocoele was associated with a relatively high proportion of other major congenital anomalies. This study showed that there has been an unexpected rise in the birth prevalence of gastroschisis in the region, similar to that experienced in other countries in the same time period and likely to have common aetiological features.
    • Gastroschisis and associated defects: an international study.

      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; Centre of the International Clearinghouse for Birth Defects Surveillance and Research, Rome, Italy. icbd@icbd.org (2007-04-01)
      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.