Non-genetic risk factors for gastroschisis§


  • Sonja A. Rasmussen,

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    • 1600 Clifton Road, MS E-86, CDC Atlanta, GA 30333.
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    • Sonja A. Rasmussen, M.D., MS, is a pediatrician and clinical geneticist and currently serves as Senior Scientist at the National Center on Birth Defects and Developmental Disabilities at the Centers for Disease Control and Prevention in Atlanta. Her research interests include the identification of risk factors for birth defects, mortality associated with birth defects and genetic conditions, and the impact of infections on the pregnant woman and her embryo or fetus.

  • Jaime L. Frías

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    • Jaime L. Frías, M.D., is a Professor Emeritus of Pediatrics at the University of South Florida in Tampa, and currently a Visiting Scientist at the National Center on Birth Defects and Developmental Disabilities at the Centers for Disease Control and Prevention in Atlanta. He is a clinical geneticist whose research interests have focused on the definition of patterns of malformation and the epidemiology of birth defects.

  • This article is a US Government work and, as such, is in the public domain in the United States of America.

  • The findings and conclusions in this report are those of the authors and do not necessarily represent the official position of the Centers for Disease Control and Prevention.

  • §

    How to cite this article: Rasmussen SA, Frías JL. 2008. Non-genetic risk factors for gastroschisis. Am J Med Genet Part C Semin Med Genet 148C:199–212.


Gastroschisis is an abdominal wall defect typically located to the right of the umbilical cord in which intestines and occasionally other abdominal contents herniate through the abdominal wall opening. The etiology of this defect is unknown. The increased recurrence risks observed in families with a child with gastroschisis suggest that genetic factors play a role in its causation. However, non-genetic factors are also important, as evidenced by the increased occurrence of gastroschisis among younger mothers, the increasing prevalence of gastroschisis in recent years observed by several birth defects surveillance systems, and the frequent occurrence of gastroschisis in a cluster pattern. Despite recognition of the importance of non-genetic factors in gastroschisis causation, no factors, other than young maternal age, have been definitively identified, limiting the development of prevention strategies. This article summarizes the currently available literature on non-genetic risk factors for gastroschisis, including investigations of sociodemographic factors, maternal therapeutic medication and non-therapeutic drug exposures, chemical exposures, and other factors. The article also discusses some of the challenges faced by investigators working to better understand gastroschisis etiology. Published 2008 Wiley-Liss, Inc.