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Genetic predispositions for thromboembolism as a possible etiology for gastroschisis

Elyce Cardonick1, Richard Broth, Marion Kaufmann

  • 1Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Cooper Health System, Camden, NJ. cardonick-elyce@cooperhealth.edu

American Journal of Obstetrics and Gynecology
|August 16, 2005
PubMed

Insights

Gastroschisis, a condition involving intestinal herniation, was studied for genetic links to blood clotting. Genetic mutations related to Factor V Leiden and prothrombin were not found to be associated with gastroschisis. MTHFR mutation rates did not differ between affected and unaffected infants.

Area of Science:

  • Perinatal medicine
  • Medical genetics
  • Congenital anomalies

Background:

  • Gastroschisis is a congenital abdominal wall defect.
  • The proposed mechanism involves in utero omphalomesenteric artery occlusion and umbilical ring disruption.
  • This study investigated a potential link between gastroschisis and thrombophilia.

Purpose of the Study:

  • To determine if fetuses with gastroschisis have a predisposition to arterial or venous thromboembolism.
  • To investigate the prevalence of specific genetic mutations associated with thrombophilia in infants with gastroschisis.

Main Methods:

  • Genetic testing for Factor V Leiden, prothrombin gene mutations, and methylene tetrahydrofolate reductase (MTHFR) mutations was performed.
  • Thirty-one infants with gastroschisis were compared to 52 control neonates matched for maternal age and race.

Main Results:

  • No prothrombin gene mutations were found in infants with gastroschisis.
  • Factor V Leiden heterozygosity was present in 6.45% of gastroschisis cases.
  • MTHFR mutation rates (heterozygous and homozygous) did not significantly differ between cases and controls.

Conclusions:

  • The study found no association between Factor V Leiden or prothrombin gene mutations and gastroschisis.
  • MTHFR mutation rates were similar in infants with and without gastroschisis when controlling for maternal factors.
  • These findings do not support a genetic predisposition to thrombophilia as a cause of gastroschisis.
Abstract

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