Inherited thrombophilias and unexplained pregnancy loss: An incident case-control study

Journal of Thrombosis and Haemostasis

Volumn 7, Issue 2, 2009, Pages 306-311

  Pasquier, Elizabeth ^a   Bohec, C ^b   Mottier, D ^a   Jaffuel, S ^a   Mercier, B ^b   Ferec C ^b   Collet, M ^b   De Saint Martin, L ^a  

^a SERVICE DE RHUMATOLOGIE   (France)

^b CHU MORVAN   (France)

Author keywords

Case control study; Factor V Leiden mutation; Pregnancy loss; Prothrombin G20210A mutation; Thrombophilic mutation

Indexed keywords

BLOOD CLOTTING FACTOR 5 LEIDEN; PROTHROMBIN;

ADULT; ARTICLE; CASE CONTROL STUDY; CONTROLLED STUDY; DISEASE ASSOCIATION; FEMALE; FRANCE; GENE FREQUENCY; GENE MUTATION; GENETIC POLYMORPHISM; GESTATIONAL AGE; HUMAN; MALE; PREGNANCY OUTCOME; PREVALENCE; PRIORITY JOURNAL; SPONTANEOUS ABORTION; THROMBOPHILIA;

ABORTION, SPONTANEOUS; ADULT; CASE-CONTROL STUDIES; FACTOR V; FEMALE; FRANCE; GENE FREQUENCY; HUMANS; MALE; MUTATION, MISSENSE; PREGNANCY; PREGNANCY COMPLICATIONS, HEMATOLOGIC; PROTHROMBIN; THROMBOPHILIA; YOUNG ADULT;

EID: 59049101057     PISSN: 15387933     EISSN: 15387836     Source Type: Journal    
DOI: 10.1111/j.1538-7836.2008.03229.x     Document Type: Article

References (40)

1. Passamonti F, Randi ML, Rumi E, Pungolino E, Elena C, Pietra D, Scapin M, Arcaini L, Tezza F, Moratti R, Pascutto C, Fabris F, Morra E, Cazzola M, Lazzarino M. Increased risk of pregnancy complications in patients with essential thrombocythemia carrying the JAK2 (617V>F) mutation. Blood 2007; 110: 485-9.
2. Rai R, Cohen H, Dave M, Regan L. Randomised controlled trial of aspirin and aspirin plus heparin in pregnant women with recurrent miscarriage associated with phospholipid antibodies (or antiphospholipid antibodies). BMJ 1997; 314: 253-7.
3. Rand JH, Wu XX, Andree HA, Lockwood CJ, Guller S, Scher J, Harpel PC. Pregnancy loss in the antiphospholipid-antibody syndrome - a possible thrombogenic mechanism. N Engl J Med 1997; 337: 154-60.
4. Kutteh WH. Antiphospholipid antibody-associated recurrent pregnancy loss: Treatment with heparin and low-dose aspirin is superior to low-dose aspirin alone. Am J Obstet Gynecol 1996; 174: 1584-9.
5. 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: 217-23.
6. Grandone E, Margaglione M, Colaizzo D, Montanaro S, Pavone G, Di Minno G. Presence of FV Leiden and MTHFR mutation in a patient with complicated pregnancies. Thromb Haemost 1997; 77: 1036-7.
7. Ridker PM, Miletich JP, Buring JE, Ariyo AA, Price DT, Manson JE, Hill JA. Factor V Leiden mutation as a risk factor for recurrent pregnancy loss. Ann Intern Med 1998; 128: 1000-3.
8. Gris JC, Quere I, Monpeyroux F, Mercier E, Ripart-Neveu S, Tailland ML, Hoffet M, Berlan J, Daures JP, Mares P. Case-control study of the frequency of thrombophilic disorders in couples with late foetal loss and no thrombotic antecedent -the Nimes Obstetricians and Haematologists Study5 (NOHA5). Thromb Haemost 1999; 81: 891-9.
9. Kutteh WH, Park VM, Deitcher SR. Hypercoagulable state mutation analysis in white patients with early first-trimester recurrent pregnancy loss. Fertil Steril 1999; 71: 1048-53.
10. Brenner B. Inherited thrombophilia and pregnancy loss. Thromb Haemost 1999; 82: 634-40.
11. Lindqvist PG, Svensson PJ, Marsaal K, Grennert L, Luterkort M, Dahlback B. Activated protein C resistance (FV:Q506) and pregnancy. Thromb Haemost 1999; 81: 532-7.
12. Souza SS, Ferriani RA, Pontes AG, Zago MA, Franco RF. Factor V leiden and factor II G20210A mutations in patients with recurrent abortion. Hum Reprod 1999; 14: 2448-50.
13. Fatini C, Gensini F, Battaglini B, Prisco D, Cellai AP, Fedi S, Marcucci R, Brunelli T, Mello G, Parretti E, Pepe G, Abbate R. Angiotensin-converting enzyme DD genotype, angiotensin type 1 receptor CC genotype, and hyperhomocysteinemia increase first-trimester fetal-loss susceptibility. Blood Coagul Fibrinolysis 2000; 11: 657-62.
14. Foka ZJ, Lambropoulos AF, Saravelos H, Karas GB, Karavida A, Agorastos T, Zournatzi V, Makris PE, Bontis J, Kotsis A. Factor V leiden and prothrombin G20210A mutations, but not methylenetetrahydrofolate reductase C677T, are associated with recurrent miscarriages. Hum Reprod 2000; 15: 458-62.
15. Martinelli I, Taioli E, Cetin I, Marinoni A, Gerosa S, Villa MV, Bozzo M, Mannucci PM. Mutations in coagulation factors in women with unexplained late fetal loss. N Engl J Med 2000; 343: 1015-8.
16. Pihusch R, Buchholz T, Lohse P, Rubsamen H, Rogenhofer N, Hasbargen U, Hiller E, Thaler CJ. Thrombophilic gene mutations and recurrent spontaneous abortion: Prothrombin mutation increases the risk in the first trimester. Am J Reprod Immunol 2001; 46: 124-31.
17. Raziel A, Kornberg Y, Friedler S, Schachter M, Sela BA, Ron-El R. Hypercoagulable thrombophilic defects and hyperhomocysteinemia in patients with recurrent pregnancy loss. Am J Reprod Immunol 2001; 45: 65-71.
18. Meinardi JR, Middeldorp S, de Kam PJ, Koopman MM, van Pampus EC, Hamulyak K, Prins MH, Buller HR, van der Meer J. Increased risk for fetal loss in carriers of the factor V Leiden mutation. Ann Intern Med 1999; 130: 736-9.
19. Preston FE, Rosendaal FR, Walker ID, Briet E, Berntorp E, Conard J, Fontcuberta J, Makris M, Mariani G, Noteboom W, Pabinger I, Legnani C, Scharrer I, Schulman S, van der Meer FJ. Increased fetal loss in women with heritable thrombophilia. Lancet 1996; 348: 913-6.
20. Rai R, Shlebak A, Cohen H, Backos M, Holmes Z, Marriott K, Regan L. Factor V Leiden and acquired activated protein C resistance among 1000 women with recurrent miscarriage. Hum Reprod 2001; 16: 961-5.
21. Kupferminc MJ, Eldor A, Steinman N, Many A, Bar-Am A, Jaffa A, Fait G, Lessing JB. Increased frequency of genetic thrombophilia in women with complications of pregnancy. N Engl J Med 1999; 340: 9-13.
22. Rey E, Kahn SR, David M, Shrier I. Thrombophilic disorders and fetal loss: A meta-analysis. Lancet 2003; 361: 901-8.
23. Robertson L, Wu O, Langhorne P, Twaddle S, Clark P, Lowe GD, Walker ID, Greaves M, Brenkel I, Regan L, Greer IA. Thrombophilia in pregnancy: A systematic review. Br J Haematol 2006; 132: 171-96.
24. Kovalevsky G, Gracia CR, Berlin JA, Sammel MD, Barnhart KT. Evaluation of the association between hereditary thrombophilias and recurrent pregnancy loss: A meta-analysis. Arch Intern Med 2004; 164: 558-63.
25. Lissalde-Lavigne G, Fabbro-Peray P, Cochery-Nouvellon E, Mercier E, Ripart-Neveu S, Balducchi JP, Daures JP, Perneger T, Quere I, Dauzat M, Mares P, Gris JC. Factor V Leiden and prothrombin G20210A polymorphisms as risk factors for miscarriage during a first intended pregnancy: The matched case-control 'NOHA first'study. J Thromb Haemost 2005; 3: 2178-84.
26. Gris JC, Mercier E, Quere I, Lavigne-Lissalde G, Cochery-Nouvellon E, Hoffet M, Ripart-Neveu S, Tailland ML, Dauzat M, Mares P. Low-molecular-weight heparin versus low-dose aspirin in women with one fetal loss and a constitutional thrombophilic disorder. Blood 2004; 103: 3695-9.
27. Krabbendam I, Franx A, Bots ML, Fijnheer R, Bruinse HW. Thrombophilias and recurrent pregnancy loss: A critical appraisal of the literature. Eur J Obstet Gynecol Reprod Biol 2005; 118: 143-53.
28. Dudding TE, Attia J. The association between adverse pregnancy outcomes and maternal factor V Leiden genotype: A meta-analysis. Thromb Haemost 2004; 91: 700-11.
29. Kist WJ, Janssen NG, Kalk JJ, Hague WM, Dekker GA, de Vries JI. Thrombophilias and adverse pregnancy outcome -a confounded problem!. Thromb Haemost 2008; 99: 77-85.
30. Jivraj S, Rai R, Underwood J, Regan L. Genetic thrombophilic mutations among couples with recurrent miscarriage. Hum Reprod 2006; 21: 1161-5.
31. Kocher O, Cirovic C, Malynn E, Rowland CM, Bare LA, Young BA, Henslee JG, Laffler TG, Huff JB, Kruskall MS, Wong G, Bauer KA. Obstetric complications in patients with hereditary thrombophilia identified using the LCx microparticle enzyme immunoassay: A controlled study of 5,000 patients. Am J Clin Pathol 2007; 127: 68-75.
32. Zammiti W, Mtiraoui N, Mercier E, Abboud N, Saidi S, Mahjoub T, Almawi WY, Gris JC. Association of factor V gene polymorphisms (Leiden; Cambridge; Hong Kong and HR2 haplotype) with recurrent idiopathic pregnancy loss in Tunisia. A case-control study. Thromb Haemost 2006; 95: 612-7.
33. Coppens M, Folkeringa N, Teune MJ, Hamulyak K, van der Meer J, Prins MH, Buller HR, Middeldorp S. Outcome of the subsequent pregnancy after a first loss in women with the factor V Leiden or prothrombin 20210A mutations. J Thromb Haemost 2007; 5: 1444-8.
34. Ogasawara M, Aoki K, Okada S, Suzumori K. Embryonic karyotype of abortuses in relation to the number of previous miscarriages. Fertil Steril 2000; 73: 300-4.
35. Dizon-Townson DS, Meline L, Nelson LM, Varner M, Ward K. Fetal carriers of the factor V Leiden mutation are prone to miscarriage and placental infarction. Am J Obstet Gynecol 1997; 177: 402-5.
36. Fretts RC. Etiology and prevention of stillbirth. Am J Obstet Gynecol 2005; 193: 1923-35.
37. Nurk E, Tell GS, Refsum H, Ueland PM, Vollset SE. Factor V Leiden, pregnancy complications and adverse outcomes: The Hordaland Homocysteine Study. QJM 2006; 99: 289-98.
38. 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 haemorrhagic and thrombotic pregnancy outcomes. Br J Haematol 2008; 140: 236-40.
39. Galan-Roosen AE, Kuijpers JC, Rosendaal FR, Steegers EA, van Beers WA, Ponjee GA, Merkus HM. Maternal and paternal thrombophilia: Risk factors for perinatal mortality. BJOG 2005; 112: 306-11.
40. Dekker JW, Lind J, Bloemenkamp KW, Quint WG, Kuijpers JC, van Doorn LJ, de Groot CJ. Inherited risk of thrombosis of the fetus and intrauterine fetal death. Eur J Obstet Gynecol Reprod Biol 2004; 117: 45-8.