Associated malformations and the “hidden mortality” of gastroschisis Javed Akhtar a, ⁎ , Erik D. Skarsgard b and the Canadian Pediatric Surgery Network (CAPSNet) a Division of Pediatric Surgery, Janeway Children's Health and Rehabilitation Center, Memorial University, St John's, NL, Canada A1B 3V6 b Division of Pediatric Surgery, BC Children's Hospital, University of British Columbia, Vancouver, BC, Canada V6H 3N1 Received 11 January 2012; accepted 26 January 2012 Key words: Abdominal wall defects; Gastroschisis; Associated malformations; Hidden mortality; Fetal loss Abstract Background: Little is known about associated anomalies in fetuses with gastroschisis (GS) who experience an “atypical perinatal event,” defined as spontaneous abortion, stillbirth, termination, or death within 24 hours of birth. Purpose: This study aims to compare associated malformation rates in an atypical perinatal event cohort vs newborns with GS surviving longer than 24 hours. Methods: A national prospective GS database was analyzed for cases with an atypical perinatal event. Associated anomaly rates were compared between this cohort and babies surviving longer than 24 hours. Results: Twenty-three atypical perinatal events (2 spontaneous abortions, 7 stillbirths, 11 terminations, and 3 deaths within 24 hours) were identified from 529 total GS cases. Autopsies in 14 (61%) of 23 identified at least 1 anomaly (excluding intestinal, patent ductus arteriosus, and undescended testicle) in 11 (78.6%) and a “lethal” anomaly in 4 (36%). The associated anomaly rate in newborns surviving longer than 24 hours was 7.3% (37/506; P b .0001). The anomalies in the atypical perinatal event cohort were musculoskeletal (35%), cardiac, central nervous system, pulmonary, and genitourinary (12% each). Among survivors, the most common anomalies were cardiac (38%), genitourinary (32%), musculoskeletal (16%), and central nervous system (8%). Conclusion: Rates of associated anomalies are significantly higher in fetuses experiencing atypical perinatal events and may represent the “hidden mortality” of GS. © 2012 Elsevier Inc. All rights reserved. Gastroschisis is a defect in the anterior abdominal wall typically located to the right of the umbilical ring, resulting in herniation of abdominal viscera, without an amniotic covering, into the amniotic cavity [1]. The cause of gastroschisis is presumed to be multifactorial but decidedly nongenetic [2]. Among developmental theories, those that associate gastroschisis occurrence with mesodermal body wall deficiency and vascular disruption are favored. Data from North America and Europe confirm that the incidence of gastroschisis has increased 5- to 10-fold during the last 15 to 20 years [2-6]. Epidemiologic studies appear to attribute ⁎ Corresponding author. Tel.: +1 709 777 4130; fax: +1 709 777 4358. E-mail addresses: jakhtar_ca@yahoo.com, jakhtar@mun.ca (J. Akhtar). www.elsevier.com/locate/jpedsurg 0022-3468/$ – see front matter © 2012 Elsevier Inc. All rights reserved. doi:10.1016/j.jpedsurg.2012.01.044 Journal of Pediatric Surgery (2012) 47, 911–916