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.
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.
Authors: Victor M Salinas-Torres; Rafael A Salinas-Torres; Ricardo M Cerda-Flores; Laura E Martínez-de-Villarreal Journal: Pediatr Surg Int Date: 2018-03-17 Impact factor: 1.827
Authors: Mary M Jenkins; Jennita Reefhuis; Margaret L Gallagher; Jennifer G Mulle; Thomas J Hoffmann; Deborah A Koontz; Cynthia Sturchio; Sonja A Rasmussen; John S Witte; Patricia Richter; Margaret A Honein Journal: Am J Med Genet A Date: 2014-03-25 Impact factor: 2.802
Authors: Juan Antonio Ortega-García; Offie P Soldin; Miguel Felipe Sánchez-Sauco; Alicia Cánovas-Conesa; Virtudes Gomaríz-Peñalver; Diana Carolina Jaimes-Vega; Joseph E Perales; Alberto Cárceles-Alvarez; Maria Teresa Martínez-Ros; Daniel Ruiz Journal: Int J Environ Res Public Health Date: 2013-10-17 Impact factor: 3.390
Authors: Amy M Padula; Wei Yang; Kathleen Schultz; Lauren Tom; Bin Lin; Suzan L Carmichael; Edward J Lammer; Gary M Shaw Journal: Am J Med Genet A Date: 2016-09-12 Impact factor: 2.802