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Journal of the Society for Gynecologic Investigation
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Genetic Polymorphisms Associated With Thrombophilia and Vascular Disease in Women With Unexplained Late Intrauterine Fetal Death: A Multicenter Study

Lukas Hefler, MD

Department of Obstetrics and Gynecology, Vienna University Medical School, Vienna, Austria, and the Department of Obstetrics and Gynecology, University of Innsbruck Medical School, Innsbruck, Austria lukas.hefler{at}akh-wien.ac.at

Stefan Jirecek, MD

Kurt Heim, MD

Christoph Grimm, MD

Gisella Antensteiner, MD

Robert Zeillinger, PhD

Peter Husslein, MD

Clemens Tempfer, MD

Department of Obstetrics and Gynecology, Vienna University Medical School, Vienna, Austria, and the Department of Obstetrics and Gynecology, University of Innsbruck Medical School, Innsbruck, Austria

Objective: We determined whether gene polymorphisms associated with thrombophilia and vascular disease as etiologic factors were involved in the pathogenesis of pregnancy-associated complications.

Methods: We conducted a multicenter case-control study in which we studied 94 women with late unexplained intrauterine fetal death (IUFD) and 94 healthy women with at least one uncomplicated full-term pregnancy and no history of IUFD. We obtained blood samples from all subjects and analyzed their DNA for 12 common polymorphisms of thrombophilic and vascular genes (factor V Leiden, factor V H1299R, prothrombin G20210A, factor XIII V34L, MTHFR C677T, MTHFR A1298C, betafibrinogen-455 G to A, PAI-1 4G/5G, GPIIIa L33P, HFE C282Y, apolipoprotein B R3500Q, and apolipoprotein E2/E3/E4).

Results: We found no significant association between any of the polymorphisms investigated and IUFD. Subgroup analyses involving various combinations of polymorphisms and in which gestational age and fetal weight were corrected for also showed no significant results.

Conclusions: Our data represent the largest study to date with respect to thrombophilic and vascular gene polymorphisms in IUFD. In accordance with others, we challenge the importance of thrombophilic and vascular gene polymorphisms in the pathogenesis of this condition.

Key Words: Late intrauterine fetal death • polymorphism • thrombophilia • vascular genes

Journal of the Society for Gynecologic Investigation, Vol. 11, No. 1, 42-44 (2004)
DOI: 10.1016/j.jsgi.2003.07.008


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