Genetic predispositions for thromboembolism as a possible etiology for gastroschisis Elyce Cardonick, MD, a, * Richard Broth, MD, b Marion Kaufmann, RN, BSN, c Jennifer Seaton, MD, d Doreen Henning, RN, Nancy Roberts, MD, d Ronald Wapner, MD c Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Cooper Health System, Camden, NJ a ; Virtua Health System, Voorhees, NJ b ; Drexel University College of Medicine, Philadelphia, PA c ; Lankenua Hospital of Main Line Health, Wynnewood, PA d Received for publication August 11, 2004; revised November 23, 2004; accepted December 6, 2004 KEY WORDS Gastroschisis Factor V Leiden Prothrombin 20210 Methylene tetrahydrofolate reductase Objective: Occlusion of the omphalomesenteric artery in utero, leading to disruption of the umbilical ring with subsequent herniation of intestines, has been proposed as the mechanism by which gastroschisis occurs. We hypothesized that affected fetuses have a predisposition to arterial or venous thromboembolism. Study design: Thirty-one children born with gastroschisis were tested for Factor V Leiden, prothrombin, and methylene tetrahydrofolate reductase (MTHFR) mutations. Fifty-two appropriately grown term neonates whose mothers were matched by maternal age and race served as control neonates. Results: Of children with gastroschisis, 6.45% were heterozygous for Factor V Leiden. No infants with gastroschisis had prothrombin gene mutations. Thirty-six percent of affected infants were heterozygous, and 16% were homozygosity for MTHFR. Among control infants, 42% were heterozygous, and 14% were homozygous for MTHFR. Conclusion: The mutation rate for MTHFR did not differ in children with and without gastroschisis when mothers were matched by race and age. Ó 2005 Elsevier Inc. All rights reserved. Gastroschisis, a birth defect involving extrusion of fetal intestines through a defect in the abdominal wall is reported to occur in 1 to 3 per 10,000 live births, with most developed countries reporting a recent increase in incidence. 1 Five to twelve percent of fetuses with gastroschisis suffer intrauterine demise. 2-4 The pathophysiologic mechanism is presumed to be occlu- sion of the omphalomesenteric artery, leading to dis- ruption of the umbilical ring with subsequent herniation of the abdominal contents. 5 The predisposing factor leading to arterial disruption is unknown. Unlike omphalocele, gastroshisis rarely occurs with associated anomalies, and those that do occur are usually vascular in origin, ie, intestinal atresias. This further suggests that the underlying etiology may be arterial disruption. The * Reprint requests: Elyce Cardonick, MD, One Cooper Plaza, Dorrance Building, Room 623, Camden, NJ 08103-1489. E-mail: cardonick-elyce@cooperhealth.edu 0002-9378/$ - see front matter Ó 2005 Elsevier Inc. All rights reserved. doi:10.1016/j.ajog.2004.12.010 American Journal of Obstetrics and Gynecology (2005) 193, 426–8 www.ajog.org