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American journal of obstetrics and gynecology · 2005

Genetic predispositions for thromboembolism as a possible etiology for gastroschisis.

СтатьяНазвание и аннотация: Перевод в очереди
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Cardonick Elyce, Broth Richard, Kaufmann Marion, Seaton Jennifer, Henning Doreen, Roberts Nancy, Wapner Ronald

Аннотация

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.

Предметные рубрики MeSH

ИП Урсолов Владлен Сергеевич

ИНН 500118482352 · ОГРНИП 314500117700049

Реквизиты и контакты