Document Detail

Genetic predispositions for thromboembolism as a possible etiology for gastroschisis.
MedLine Citation:
PMID:  16098865     Owner:  NLM     Status:  MEDLINE    
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.
Elyce Cardonick; Richard Broth; Marion Kaufmann; Jennifer Seaton; Doreen Henning; Nancy Roberts; Ronald Wapner
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  American journal of obstetrics and gynecology     Volume:  193     ISSN:  0002-9378     ISO Abbreviation:  Am. J. Obstet. Gynecol.     Publication Date:  2005 Aug 
Date Detail:
Created Date:  2005-08-15     Completed Date:  2005-09-15     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0370476     Medline TA:  Am J Obstet Gynecol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  426-8     Citation Subset:  AIM; IM    
Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Cooper Health System, Camden, NJ.
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MeSH Terms
Case-Control Studies
DNA Mutational Analysis
Factor V / genetics*
Gastroschisis / genetics,  physiopathology*
Genetic Predisposition to Disease*
Infant, Newborn
Maternal Age
Methylenetetrahydrofolate Reductase (NADPH2) / genetics*
Thromboembolism / genetics*
Reg. No./Substance:
0/factor V Leiden; 9001-24-5/Factor V; EC Reductase (NADPH2)

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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