Association between adverse pregnancy outcomes and maternal factor V G1691A (Leiden) and prothrombin G20210A genotypes in women with a history of recurrent idiopathic miscarriages

American Journal of Hematology

Volumn 80, Issue 1, 2005, Pages 12-19

  Mahjoub, Touhami ^a   Mtiraoui, Nabil ^a   Tamim, Hala ^b   Hizem, Sondes ^a   Finan, Ramzi R ^c   Nsiri, Brahim ^a   Almawi, Wassim Y ^d  

^a Center University   (Tunisia)

^b AMERICAN UNIVERSITY OF BEIRUT   (Lebanon)

^c SAINT JOSEPH UNIVERSITY   (Lebanon)

^d ARABIAN GULF UNIVERSITY   (Bahrain)

Author keywords

Abortion; APC resistance; Factor V Leiden; Miscarriage; PCR; Prothrombin G20210A mutation

Indexed keywords

ACTIVATED PROTEIN C; ALANINE; BLOOD CLOTTING FACTOR 10; BLOOD CLOTTING FACTOR 5 LEIDEN; GLYCINE; ORAL CONTRACEPTIVE AGENT; PROTHROMBIN;

ACTIVATED PROTEIN C RESISTANCE; ADULT; ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; BLOOD CLOTTING TIME; CONTROLLED STUDY; FEMALE; GENE MUTATION; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; OBESITY; POLYMERASE CHAIN REACTION; PREDICTION; PREGNANCY COMPLICATION; PREVALENCE; PRIORITY JOURNAL; RECURRENT ABORTION; REGRESSION ANALYSIS; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM; SMOKING; SPONTANEOUS ABORTION; THROMBOPHILIA;

ABORTION, HABITUAL; ADULT; CASE-CONTROL STUDIES; FACTOR V; FEMALE; GENOTYPE; HUMANS; POLYMORPHISM, SINGLE NUCLEOTIDE; PREGNANCY; PREGNANCY OUTCOME; PROTHROMBIN; REFERENCE VALUES; REGRESSION ANALYSIS; RETROSPECTIVE STUDIES; SOCIOECONOMIC FACTORS;

EID: 24344439224     PISSN: 03618609     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajh.20419     Document Type: Article

References (51)

1. Sugimura M, Kobayashi T, Kanayama N, Terao T. Detection of decreased response to activated protein C during pregnancy by an endogenous thrombin potential-based assay. Semin Thromb Hemost 1999;25:497-502.
2. Vodnik T, Ignjatovic S, Majkic-Singh N. Changes in the plasma levels of protein C system parameters in pregnancy. Scand J Clin Lab Invest 2003;63:481-488.
3. Alfirevic Z, Roberts D, Martlew V. How strong is the association between maternal thrombophilia and adverse pregnancy outcome? A systematic review. Eur J Obstet Gynecol Reprod Biol 2002;101:6-14.
4. Finan RR, Tamim H, Ameen G, Sharida HE, Rashid M, Almawi WY. Prevalence of factor V G1691A and prothrombin G20210A gene mutations in a recurrent miscarriage population. Am J Hematol 2002;71;300-305.
5. Stone SE, Morris TA. Pulmonary embolism and pregnancy. Crit Care Clin 2004;20:661-677.
6. Samuelsson E, Hagg S. Incidence of venous thromboembolism in young Swedish women and possibly preventable cases among combined oral contraceptive users. Acta Obstet Gynecol Scand 2004;83:674-681.
7. Thorneycroft IH, Goldzieher JW. Venous thromboembolism. A review. J Reprod Med 2003;48:911-920.
8. Stein PD, Hull RD, Kayali F, et al. Venous thromboembolism in pregnancy: 21-year trends. Am J Med 2004;117:121-125.
9. Martinelli I, Taioli E, Cetin I, et al. Mutations in coagulation factors in women with unexplained late fetal loss. N Engl J Med 2000;343:1015-1018.
10. Isotalo PA, Wells GA, Donnelly JG. Neonatal and fetal methylenetetrahydrofolate reductase genetic polymorphisms: an examination of C677T and A1298C mutations. Am J Hum Genet 2000;67:986-990.
11. Unfried G, Griesmacher A, Weismuller W, Nagele F, Huber JC, Tempfer CB. The C677T polymorphism of the methylenetetrahydrofolate reductase gene and idiopathic recurrent miscarriage. Obstet Gynecol 2002;99:614-619.
12. Lensen R, Rosendaal F, Vandenbroucke J, Bertina R. Factor V Leiden: the venous thrombotic risk in thrombophilic families. Br J Haematol 2000;110:939-945.
13. Dahlbäck B. Resistance to activated protein C as risk factor for thrombosis; molecular mechanism, laboratory investigation and clinical management. Semin Haematol 1997;34:217-234.
14. Bertina RM, Koeleman BPC, Koster T, et al. Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature 1994;369:64-67.
15. Poort SR, Rosendaal FR, Reitsma PH, Bertina RM. A common genetic variation in the 3′-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis. Blood 1996;88:3698-3703.
16. Harvey D, Lowe GM. Factor V Leiden: association with venous thromboembolism in pregnancy and screening issues. Br J Biomed Sci 2004;61:157-164.
17. Prochazka M, Happach C, Marsal K, Dahlback B, Lindqvist PG. Factor V Leiden in pregnancies complicated by placental abruption. Br J Obstet Gynaecol 2003;110:462-466.
18. Agorastos T, Karavida A, Lambropoulos A, et al. Factor V Leiden and prothrombin G20210A mutations in pregnancies with adverse outcome. J Matern Fetal Neonatal Med 2002;12:267-273.
19. Vefring H, Lie RT, ODegard R, Mansoor MA, Nilsen ST. Maternal and fetal variants of genetic thrombophilias and the risk of preeclampsia. Epidemiology 2004;15:317-322.
20. Verspyck E, Borg JY, Le Cam-Duchez V, et al. Thrombophilia and fetal growth restriction. Eur J Obstet Gynecol Reprod Biol 2004;113:36-40.
21. Dizon-Townson DS, Kinney S, Branch DW, Ward K. The factor V Leiden mutation is not a common cause of recurrent miscarriage. J Reprod Immunol 1997;34:217-223.
22. Pauer HU, Neesen J, Hinney B. Factor V Leiden and its relevance in patients with recurrent abortions. Am J Obstet Gynecol 1998;178:629.
23. Alfirevic Z, Mousa HA, Martlew V, Briscoe L, Perezcasol M, Toh CH. Postnatal screening for thrombophilia in women with severe pregnancy complications. Obstet Gynecol 2001;97:753-759.
24. Hezard N, Cornillet-Lefebvre P, Gillot L, Potron G, Nguyen P. Multiplex ASA PCR for a simultaneous determination of factor V Leiden gene, GA 20210 prothrombin gene and CT 677 MTHFR gene mutations. Thromb Haemost 1998;79:1054-1055.
25. Preston FE, Rosendaal FR, Walker ID, et al. Increased fetal loss in women with heritable thrombophilia. Lancet 1996;348:913-915.
26. Rai R, Regan L, Chitolie A, Donald JG, Cohen H. Placental thrombosis and second trimester miscarriage in association with activated protein C resistance. Br J Obstet Gynaecol 1996;103:842-846.
27. Younis JS, Ohel G, Brenner B, Ben-Ami M. Familial thrombophilia-the scientific rationale for thrombophylaxis in recurrent pregnancy loss? Hum Reprod 1997;12:1389-1390.
28. Brenner B, Mandel H, Lanir N, et al. Activated protein C resistance can be associated with recurrent fetal loss. Br J Haematol 1997;97:551-554.
29. Kupfermine MJ, Peri H, Zwang E, Yaron Y, Wolman I, Eldor A. High prevalence of the prothrombin gene mutation in women with 0intrauterine growth retardation, abruptio placentae and second trimester loss. Acta Obstet Gynecol Scand 2000;79:963-967.
30. Grandone E, Margaglione M, Colaizzo D, et al. Factor V Leiden, C→T MTHFR polymorphism and genetic susceptibility to preeclampsia. Thromb Haemost 1997;77:1052-1054.
31. Howard C, Ophira S, Daniel S, Rim D, Nurith R, Aida I. Prevalence of genetic markers for thrombophilia in recurrent pregnancy loss. Human Reprod 2002;6:1633-1637.
32. Pauer HU, Voigt-Tschirschwitz T, Hinney B, et al. Analyses of three common thrombophilic gene mutations in German women with recurrent abortions. Acta Obstet Gynecol Scand 2003;82:942-947.
33. Wramsby ML, Sten-Linder M, Bremme K. Primary habitual abortions are associated with high frequency of factor V Leiden mutation. Fertil Steril 2000;74:987-991.
34. Cumming AM, Tait RC, Fildes S, Yoong A, Keeney S, Hay CR. Development of resistance to activated protein C during pregnancy. Br J Haematol 1995;90:725-727.
35. Clark P, Brennand J, Conkie JA, McCall F, Greer IA, Walker ID. Activated protein C sensitivity, protein C, protein S and coagulation in normal pregnancy. Thromb Haemost 1998;79:1166-1170.
36. Balasch J, Reverter JC, Fabregues F, et al. First-trimester repeated abortion is not associated with activated protein C resistance. Hum Reprod 1997;12:1094-1097.
37. Younis JS, Brenner B, Ohel G, Tal J, Lanir N, Ben-Ami M. Activated protein C resistance and factor V Leiden mutation can be associated with first-as well as second-trimester recurrent pregnancy loss. Am J Reprod Immunol 2000;43:31-35.
38. Sarig G, Younis JS, Hoffman R, Lanir N, Blumenfeld Z, Brenner B. Thrombophilia is common in women with idiopathic pregnancy loss and is associated with late pregnancy wastage. Fertil Steril 2002;77:342-347.
39. Carp H, Salomon O, Seidman D, Dardik R, Rosenberg N, Inbal A. Prevalence of genetic markers for thrombophilia in recurrent pregnancy loss. Hum Reprod 2002;17:1633-1637.
40. 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.
41. Bernardi F, Faioni EM, Castoldi E, et al. A factor V genetic component differing from factor V R506Q contributes to the activated protein C resistance phenotype. Blood 1997;90:1552-1557.
42. Laffan M, Tuddenham E. Thrombophilia: an expanding group of genetic defects that predispose to thrombosis. Mol Med Today 1997;3:303-309.
43. Kamphuisen PW, Rosendaal FR, Eikenboom JC, Bos R, Bertina RM. Factor V antigen levels and venous thrombosis: risk profile, interaction with factor V Leiden, and relation with factor VIII antigen levels. Arterioscler Thromb Vasc Biol 2000;20:1382-1386.
44. Olivieri O, Friso S, Manzato F, et al. Resistance to activated protein C in healthy women taking oral contraceptives. Br J Haematol 1995;91:465-470.
45. Aznar J, Villa P, Espana F, Estelles A, Grancha S, Falco C. Activated protein C resistance phenotype in patients with antiphospholipid antibodies. J Lab Clin Med 1997;130:202-208.
46. Mtiraoui N, Borgi L, Gris JC, Almawi WY, Mahjoub T. Factor V Leiden, prothrombin G20210A and antibodies against phospholipids in recurrent spontaneous abortion. J Thromb Haemost 2004;2:1482-1484.
47. Chafa O, Reghis A, Aubert A, Fischer AM. Prevalence of the FVQ506 (factor V Leiden) mutation in the normal and thrombophilic Algerian population. Br J Haematol 1997;97:688-689.
48. Mathonnet F, Nadifi S, Serazin-Leroy V, Dakouane M, Giudicelli Y. Absence of factor V Leiden mutation and low prothrombin G 20210 A mutation prevalence in a healthy Moroccan population. Thromb Haemost 2002;88:1073-1074.
49. Irani-Hakime N, Tamim H, Kreidy R, Almawi WY. The prevalence of factor V R506Q mutation-Leiden among apparently healthy Lebanese. Am J Hematol 2000;65:45-49.
50. Dahlback B, Zoller B, Hillarp A. Inherited resistance to activated protein C caused by presence of the FV: Q506 allele as a basis of venous thrombosis. Haemostasis 1996;26:301-314.
51. Rouse DJ, Goldenberg RL, Wenstrom KD. Antenatal screening for factor V Leiden mutation: a critical appraisal. Obstet Gynecol 1997;90:848-851.