Acta Med. 2011, 54: 117-121

https://doi.org/10.14712/18059694.2016.32

Factor V Leiden Mutation and its Impact on Pregnancy Complications

Ľubica Hammerováa, Ján Chabadaa, Juraj Drobnýa, Angelika Bátorováb

aComenius University, Faculty of Medicine University Hospital, 1st Department of Gynaecology and Obstetrics, Bratislava, Slovakia
bThe National Haemophilia Centre, Institute of Haematology and Blood Transfusion, University Hospital, Bratislava, Slovakia

Received April 8, 2010
Accepted June 23, 2011

References

1. Arias F, Romero R, Joist H, Kraus FT. Thrombophilia: a mechanism of disease in women with adverse pregnancy outcome and thrombotic lesions in the placenta. J Matern Fetal Med 1998; 7:227–286. <https://doi.org/10.1002/(SICI)1520-6661(199811/12)7:6<277::AID-MFM5>3.0.CO;2-3>
2. Bertina RM, Koeleman BPC, Koster T, Rosendaal FR, Dirven RJ, de Ronde H et al. Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature 1994; 369:64–67. <https://doi.org/10.1038/369064a0>
3. Bourjeily G, Paidas M, Khalil H, Rosene-Montella K, Rodger M. Pulmonary embolism during pregnancy. Lancer 2009; 375(suppl 9713):500–512.
4. Burton GJ, Watson AL, Hempstock J, Skepper JN, Jauniaux E. Uterine glands provide histiotrophic nutrition for the human fetus during the first trimester of pregnancy. J Clin Endocrinol Metab 2002; 87:2954–2959. <https://doi.org/10.1210/jcem.87.6.8563>
5. Chan WP, Lee CK, Kwong YL, Lam CK, Liang R. A Novel Mutation of Arg306 of Factor V Gene in Hong Kong Chinese. Blood 1998; 91(suppl 4):1135–1139.
6. Clark P, Walker ID, Govan L, Wu O, Greer IA. The GOAL study: a prospective examination of the impact of factor V Leiden and ABO(H) blood groups on hemorrhagic an thrombotic pregnancy outcomes. Br J Haematol 2007; 140:236–240.
7. Cox P, Marton T. Pathological assessment of intrauterine growth restriction. Best Pract Res Clin Obstet Gynaecol 2009; 23(6):751–764. <https://doi.org/10.1016/j.bpobgyn.2009.06.006>
8. Dahlbäck B, Carlsson M, Svensson PJ. Familial thrombophilia due to a previously unrecognized mechanism characterized by poor anticoagulant response to activated protein C: prediction of a cofactor to activated protein C. Proc Natl Acad Sci USA 1993; 90:1004–1008. <https://doi.org/10.1073/pnas.90.3.1004> <PubMed>
9. Dahlbäck B, Carlsson M, Svensson PJ. Familial thrombophilia due to a previously unrecognized mechanism characterized by poor anticoagulant response to activated protein C: prediction of a cofactor to activated protein C. Proc Natl Acad Sci USA 1993; 90:1004–1008. <https://doi.org/10.1073/pnas.90.3.1004> <PubMed>
10. De Groot CJM, Bloemenkamp KWM, Duvenkot EJ, Helmerhorst FM, Bertina RM, Vander Meer F et al. Preeclampsia and genetic risk factors for thrombosis: A case-control study. Am J Obstet Gynecol 1999; 181:975–980. <https://doi.org/10.1016/S0002-9378(99)70335-2>
11. Dizon-Townson D, Miller C, Sibai B, Spong CY, Thom E, Wendel JrG. The relationship of the factor V Leiden mutation and pregnancy outcomes for mother and fetus. Obstet Gynecol 2005; 106:517–524. <https://doi.org/10.1097/01.AOG.0000173986.32528.ca>
12. Faas MM, Schuiling GA. Preeclampsia and the inflammatory response. Eur J Obstet Gynecol Reprod Biol 2001; 95:213–217. <https://doi.org/10.1016/S0301-2115(00)00493-0>
13. Jääskeläinen E, Tiovonen S, Romppanen EL, Helisalmi S, Keski-Nisula L, Punnonen K, Heinonen S. M385T polymorphism in the factor V gene, but not Leiden mutation, is associated with placental abruption in Finnish women. Placenta 2004; 25:730–734. <https://doi.org/10.1016/j.placenta.2004.02.006>
14. Kim YJ, Williamson RA, Murray JC, Andrews J, Pietscher JJ et al. Genetic susceptibility to preeclampsia: Roles of cytosine-to-thymine substitution at nucleotide 677 of the gene for methylenetetrahydrofolate reductase, 68–base pair insertion at nucleotide 844 of the gene for cystathionine β-synthase, and factor V Leiden mutation. Am J Obstet Gynecol 2001; 184:1211–1217. <https://doi.org/10.1067/mob.2001.110411>
15. Lindheimer MD, Taler SJ, Cunningham FG. Hypertension in pregnancy. J Am Soc Hypertens 2008; 2(6):484–494. <https://doi.org/10.1016/j.jash.2008.10.001>
16. Lindquist P, Dahlbäck B, Maršál K. Thrombotic risk during pregnancy: A population study. Obstet Gynecol 1999; 94:595–599.
17. Many A, Schreiber L, Rosner S, Lessing JB, Eldor A, Kupferminc MJ. Pathologic features of the placenta in women with severe pregnancy complications and thrombophilia. Obstet Gynecol 2001; 98:1041–1044.
18. McCowan LME, Craigie S, Taylor RS, Ward Ch, McLintock C, North RA. Inherited thrombophilias are not increased in “idiopathic” small-for-gestational-age pregnancies. Am J Obstet Gynecol 2003; 188(4):981–985. <https://doi.org/10.1067/mob.2003.218>
19. Mello G, Parretti E, Marozio L, Pizzi C, Lojacono A, Frusca T et al. Thrombophilia is significantly associated with severe preeclampsia. Hypertension 2005; 46:1270–1274. <https://doi.org/10.1161/01.HYP.0000188979.74172.4d>
20. O’Shaughnessy KM, Fu B, Ferraro F, Lewis I, Downing S, Morris NH. Factor V Leiden and thermolabile methylenetetrahydrofolate reductase gene variants in an East Anglian preeclampsia cohort. Hypertension 1999; 33:1338–1341. <https://doi.org/10.1161/01.HYP.33.6.1338>
21. Pabinger I, Vormittag R. Thrombophilia and pregnancy outcome. J Thromb Haemost 2005; 3:1603–1610. <https://doi.org/10.1111/j.1538-7836.2005.01417.x>
22. Procházka M, Happach C, Maršál K, Dahlbäck B, Lindquist PG. Factor V Leiden in pregnancies complicated by placental abruption. BJOG 2003; 110:462–466. <https://doi.org/10.1046/j.1471-0528.2003.02369.x>
23. Procházka M, Lubušký M, Slavík L, Hrachovec P, Zielina P, Kudela M, Lindquist PG. Frequency of selected thrombophilias in women with placental abruption. Aust N Z J Obstet Gynaecol 2007; 47(4):297–301. <https://doi.org/10.1111/j.1479-828X.2007.00741.x>
24. Ray E, Kahn SR, David M, Shrier I. Thrombophilic disorders and fetal loss: a meta-analysis. Lancet 2003; 361:901–908. <https://doi.org/10.1016/S0140-6736(03)12771-7>
25. Redman CWG, Sargent IL. Preeclampsia, the Placenta and the Maternal Systematic Inflammatory Response – A Review. Placenta 2003; 24(suppl A):S21–S27. <https://doi.org/10.1053/plac.2002.0930>
26. Robertson L, Wu O, Langhorne P, Twaddle S, Clark P, Lowe GD, Walker ID, Greaves M, Brenkel I, Regan L et al. Thrombophilia in pregnancy: a systematic review. Br J Haematol 2006; 132:171–196. <https://doi.org/10.1111/j.1365-2141.2005.05847.x>
27. Sanson BJ, Friedrich PW, Simioni P. The risk of abortion and stillbirth in antithrombin-, protein C-, and protein S-deficient women. Thromb Haemost 1996; 75:387–388.
28. Sibai B, Dekker G, Kupferminc M. Pre-eclampsia. Lancet 2005; 365:785–799. <https://doi.org/10.1016/S0140-6736(05)71003-5>
29. Spina V, Aleandri V, Morini F. The impact of Factor V Leiden mutation on pregnancy. Hum Reprod Update 2000; 6(suppl 3):301–306. <https://doi.org/10.1093/humupd/6.3.301>
30. Stephenson MD, Awartani KA, Robinson WP. Cytogenetic analysis of miscarriages from couples with recurrent miscarriage: a case-control study. Hum Reprod 2002; 17:446–451. <https://doi.org/10.1093/humrep/17.2.446>
31. Sullivan EA, Silver RM, LaCoursiere DY, Porter TF, Branch DW. Recurrent fetal aneuploidy and recurrent miscarriage. Obstet Gynecol 2004; 104:784–788. <https://doi.org/10.1097/01.AOG.0000137832.86727.e2>
32. The GOPEC Consortium. Disentangling fetal and maternal susceptibility for preeclampsia: A British multicenter candidate-gene study. Am J Hum Genet 2005; 77:127–131.
33. Tikkanen M, Nuutila M, Hiilesmaa V, Paavonen J, Ylikorkala O. Clinical presentation and risk factors of placental abruption. Acta Obstet Gynecol Scand 2006; 85(6):700–705. <https://doi.org/10.1080/00016340500449915>
34. Triplett DA, Harris EN. Antiphospholipid antibodies and reproduction. Am J Reprod Immunol 1989; 21:123–131. <https://doi.org/10.1111/j.1600-0897.1989.tb01016.x>
35. Verspyck E, Borg JY, leCam-Duchez V, Goffinet F, Degré S, Fournet P. Thrombophilia and fetal growth restriction. Eur J Obstet Gynecol Reprod Biol 2004; 113:36–40. <https://doi.org/10.1016/j.ejogrb.2003.06.007>
36. Williamson D, Brown K, Luddington R, Baglin C, Baglin T. Factor V Cambridge: a new mutation (Arg306→Thr) associated with resistance to activated protein C. Blood 1998; 91:1140–1144.
37. Zivelin A, Mor-Cohen R, Kovalsky V, Kornbrot N, Conrad J, Peyvandi F et al. Prothrombin 20210G>A is ancestral prothrombotic mutation that occurred in white approximately 24,000 years ago. Blood 2006; 107:4666–4668. <https://doi.org/10.1182/blood-2005-12-5158>
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