Genetic predispositions for thromboembolism as a possible etiology for gastroschisis.
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.


METHODS
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.


CONCLUSIONS
The mutation rate for MTHFR did not differ in children with and without gastroschisis when mothers were matched by race and age.
Cardonick
Elyce
E
Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Cooper Health System, Camden, NJ. cardonick-elyce@cooperhealth.edu
Broth
Richard
R
Kaufmann
Marion
M
Seaton
Jennifer
J
Henning
Doreen
D
Roberts
Nancy
N
Wapner
Ronald
R
D016022:Case-Control Studies; D004252:DNA Mutational Analysis; D005165:Factor V / Q000235:genetics*; D020139:Gastroschisis / Q000235:genetics / Q000503:physiopathology*; D020022:Genetic Predisposition to Disease; D006801:Humans; D007231:Infant, Newborn; D008423:Maternal Age; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D013923:Thromboembolism / Q000235:genetics*
C095381:factor V Leiden; D005165:Factor V; D042965:Methylenetetrahydrofolate Reductase (NADPH2)