Thrombophilic mutation by women with serious pregnancy complications

Czech version

Authors: B. Vavřinková ¹; T. Binder ¹; I. Hadačová ²; I. Hrachovinová ³; P. Salaj ³; Martin Hruda ¹
Authors‘ workplace: Gynekologicko-porodnická klinika 2. LF UK a FN Motol, Praha, přednosta prof. L. Rob, CSc. ¹; Oddělení klinické hematologie FN Motol, Praha, prim. I. Hochová ²; Ústav hematologie a krevní transfúze, Praha, ředitel prof. MUDr. M. Trněný, CSc. ³
Published in: Ceska Gynekol 2012; 77(2): 171-174
Category: Original Article

Overview

Objective:
The purpose of this study was to determine whether maternal or fetal genotype frequencies of the inherited thrombophilic gene mutation (F V Leiden, F II) are altered in adverse pregnancy outcomes – severe preeclampsia, IUGR, abruption of placenta and stillbirth.

Design of the study:
Retrospective study.

Setting:
Department of Gynecology and Obstetrics of the Teaching Hospital and the 2^nd Medical Faculty of the Charles University in Prague.

Methods:
We studied 232 women who had pregnancy complications. All women were tested postpartum for mutation of factor V Leiden and G20210A prothrombine gene. At the same time were tested the newborns of those women.

Results:
In the group of women with preeklampsia (n=141) we have demonstrated 5 women with mutation encoding for F V, 5 women with mutation encoding for F II and 1 combination of both. In the group of IUGR 2 women with mutation F V, 1 with mutation F II a 1 combination of both were found. In women after stillbirth occure two mutation of F V, one mutation of F II and one combination of both. In the group with abruptio of placenta was 1 case of mutation F V and 3 cases of mutation F II. When we tested a newborn we found 4 cases of mutation F V and 3 cases of F II in the group with preeclampsia, 4 cases of mutation F V 3 cases od mutation of F II in the group with IUGR, no case in the group with abruptio of placenta and 1 case in a death fetus. There was no assotiation between any severe pregnancy complications and any of the maternal or fetal inherited thrombophilia.

Conclusion:
Factor V Leiden and prothrombin gene mutations did not seem play a significant role in adverse pregnancy outcome in our population.

Key words:
thrombophilia, mutation, Leiden, prothrombin, preeclampsia, IUGR, abruption, stillbirth.

Sources

1. De Groot, CJ., Bloemenkamp, KW., Duvekot, EJ., et al. Preeclampsia and genetic risk factors for thrombosis: a case-control study. Am J Obstet Gynekol, 1999, 181, p. 975–980.

2. Diazon-Towsend, DS., Nelson, LM., Easton, K., Ward, K. The factor V Leiden mutation may predispose women to severe preeclampsia. Am J Obstet Gynecol, 1996, 175, p. 902–905.

3. Grandone, E., Margaglione, M., Collaizzo, D., et al. Factor V Leiden, C>T MTHFR polymorphism and genetic susceptibility to preeclampsia. Tromb Haemost, 1997, 77, p. 1052–1054.

4. Hájek, Z. Rizikové a patologické těhotenství. 1. vyd. Praha: Grada, 2004, s. 176–177.

5. Kupferminc, MJ., Eldor, A., Steinman, N., et al. Increased frequency of genetic trombophilia in women with complication of pregnancy. N Engl J Med, 1997, 340, p. 9–13.

6. Kvasnička, J. Trombofilie a trombotické stavy v klinické praxi. Praha: Grada, 2003, s. 57.

7. Murphy, RP., Donoghue, C., Nallen, RJ., et al. Prospective evaluation of the risk conferred by factor V Leiden and thermolabile MTHFR polymorphism in pregnancy. Arterioscler Tromb BASF Biol, 2000, 20, p. 266–270.

8. O’Shaughnessy, KM., Fu, B., Ferraro, F., et al. Factor V Leiden and thermolabile MTHFR gene variants in an East Anglian preeclampsia cohort. Hypertension, 1999, 33, p. 1338–1341.

9. Preston, FE., Rosendaal, FR., Walker, ID., et al. Increased fetal loss in women with heritable thrombophilia. Lancet, 1996, 348, p. 913–916.

10. Raušová, E., Hadačová, I., Macek, M. Hereditární trombofilie – jeden z modelů molekulární medicíny. Klin Biochem Metab, 2005, 13 (34), 2, p. 68–76.

11. Van der Molen, EF., Verbuggen, B., Novakova, I., et al. Hyperhomocysteinemia and other thrombotic risk factors in women with placenta vaskulopathy. Br J Obstet Gynaecol, 2000, 107, p. 785–791.

12. Van Pampus, MG., Dekker, GA., Wolf, H., et al. High prevalence of haemostatic abnormalities in women with a history of severe preeclampsia. Am J Obstet Gynecol, 1999, 180, p. 1146–1150.