Inherited Thrombophilias and Adverse Pregnancy Outcomes. A Review of Screening Patterns and Recommendations

Obstetrics and Gynecology Clinics of North America

Volumn 41, Issue 1, 2014, Pages 133-144

  Davenport, William B ^a   Kutteh, William H ^b  

^a UNIVERSITY OF VERMONT   (United States)

^b VANDERBILT UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

Inherited thrombophilias; Intrauterine growth restriction; OB GYN; Placental abruption; Preeclampsia; Pregnancy; Recurrent pregnancy loss

Indexed keywords

INHERITED THROMBOPHILIAS; INTRAUTERINE GROWTH RESTRICTION; OB/GYN; PLACENTAL ABRUPTION; PREECLAMPSIA; PREGNANCY; RECURRENT PREGNANCY LOSS;

ABORTION, HABITUAL; ANTIBODIES, ANTICARDIOLIPIN; FACTOR V; FEMALE; FETAL GROWTH RETARDATION; GENETIC TESTING; GUIDELINE ADHERENCE; HUMANS; LUPUS COAGULATION INHIBITOR; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); MUTATION; PATIENT SELECTION; PRACTICE GUIDELINES AS TOPIC; PRE-ECLAMPSIA; PREGNANCY; PREGNANCY COMPLICATIONS, HEMATOLOGIC; PREGNANCY OUTCOME; PROTEIN C DEFICIENCY; PROTEIN S DEFICIENCY; PROTHROMBIN; RISK FACTORS; THROMBOPHILIA; VENOUS THROMBOEMBOLISM;

EID: 84894906070     PISSN: 08898545     EISSN: 15580474     Source Type: Journal    
DOI: 10.1016/j.ogc.2013.10.005     Document Type: Review

References (48)

1. Kutteh W.H. 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(5):1584-1589.
2. Rai R., Cohen H., Dave M., et al. 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(7076):253-257.
3. Rodger M.A., Paidas M., Mclintock C., et al. Inherited thrombophilia and pregnancy complications revisited. Obstet Gynecol 2008, 112(2 Pt 1):320-324.
4. Lockwood C., Wendel G. Practice bulletin no. 124: inherited thrombophilias in pregnancy. Obstet Gynecol 2011, 118(3):730-740.
5. van Sluis G.L., Sohne M., El Kheir D.Y., et al. Family history and inherited thrombophilia. JThromb Haemost 2006, 4(10):2182-2187.
6. Wichers I.M., Tanck M.W., Meijers J.C., et al. Assessment of coagulation and fibrinolysis in families with unexplained thrombophilia. Thromb Haemost 2009, 101(3):465-470.
7. Villani M., Tiscia G.L., Margaglione M., et al. Risk of obstetric and thromboembolic complications in family members of women with previous adverse obstetric outcomes carrying common inherited thrombophilias. JThromb Haemost 2012, 10(2):223-228.
8. Lussana F., Coppens M., Cattaneo M., et al. Pregnancy-related venous thromboembolism: risk and the effect of thromboprophylaxis. Thromb Res 2012, 129(6):673-680.
9. Horton A.L., Momirova V., Dizon-Townson D., et al. Family history of venous thromboembolism and identifying factor V Leiden carriers during pregnancy. Obstet Gynecol 2010, 115(3):521-525.
10. Branch D.W. The truth about inherited thrombophilias and pregnancy. Obstet Gynecol 2010, 115(1):2-4.
11. Bates S.M., Greer I.A., Pabinger I., et al. Venous thromboembolism, thrombophilia, antithrombotic therapy, and pregnancy: American College of Chest Physicians evidence-based clinical practice guidelines (8th edition). Chest 2008, 133(Suppl 6):844S-886S.
12. Dizon-Townson D.S., Meline L., Nelson L.M., et al. Fetal carriers of the factor V Leiden mutation are prone to miscarriage and placental infarction. Am J Obstet Gynecol 1997, 177(2):402-405.
13. Rey E., Kahn S.R., David M., et al. Thrombophilic disorders and fetal loss: a meta-analysis. Lancet 2003, 361(9361):901-908.
14. Bradley L.A., Palomaki G.E., Bienstock J., et al. Can factor V Leiden and prothrombin G20210A testing in women with recurrent pregnancy loss result in improved pregnancy outcomesα: results from a targeted evidence-based review. Genet Med 2012, 14(1):39-50.
15. Rodger M.A., Betancourt M.T., Clark P., et al. The association of factor V Leiden and prothrombin gene mutation and placenta-mediated pregnancy complications: a systematic review and meta-analysis of prospective cohort studies. PLoS Med 2010, 7(6):e1000292.
16. Howley H.E., Walker M., Rodger M.A. Asystematic review of the association between factor V Leiden or prothrombin gene variant and intrauterine growth restriction. Am J Obstet Gynecol 2005, 192(3):694-708.
17. Dizon-Townson D., Miller C., Sibai B., et al. The relationship of the factor V Leiden mutation and pregnancy outcomes for mother and fetus. Obstet Gynecol 2005, 106(3):517-524.
18. Jaaskelainen E., Toivonen S., Romppanen E.L., et al. M385T polymorphism in the factor V gene, but not Leiden mutation, is associated with placental abruption in Finnish women. Placenta 2004, 25(8-9):730-734.
19. Prochazka M., Happach C., Marsal K., et al. Factor V Leiden in pregnancies complicated by placental abruption. BJOG 2003, 110(5):462-466.
20. Rogers B.B., Momirova V., Dizon-Townson D., et al. Avascular villi, increased syncytial knots, and hypervascular villi are associated with pregnancies complicated by factor V Leiden mutation. Pediatr Dev Pathol 2010, 13(5):341-347.
21. Silver R.M., Zhao Y., Spong C.Y., et al. Prothrombin gene G20210A mutation and obstetric complications. Obstet Gynecol 2010, 115(1):14-20.
22. Infante-Rivard C., Rivard G.E., Yotov W.V., et al. Absence of association of thrombophilia polymorphisms with intrauterine growth restriction. NEngl J Med 2002, 347(1):19-25.
23. Alfirevic Z., Roberts D., Martlew V. How strong is the association between maternal thrombophilia and adverse pregnancy outcomeα A systematic review. Eur J Obstet Gynecol Reprod Biol 2002, 101(1):6-14.
24. Di Nisio M., Middeldorp S., Buller H.R. Direct thrombin inhibitors. NEngl J Med 2005, 353(10):1028-1040.
25. Blumenfeld Z., Brenner B. Thrombophilia-associated pregnancy wastage. Fertil Steril 1999, 72(5):765-774.
26. Preston F.E., Rosendaal F.R., Walker I.D., et al. Increased fetal loss in women with heritable thrombophilia. Lancet 1996, 348(9032):913-916.
27. Sanson B.J., Friederich P.W., Simioni P., et al. The risk of abortion and stillbirth in antithrombin-, protein C-, and protein S-deficient women. Thromb Haemost 1996, 75(3):387-388.
28. Peng F., Labelle L.A., Rainey B.J., et al. Single nucleotide polymorphisms in the methylenetetrahydrofolate reductase gene are common in US Caucasian and Hispanic American populations. Int J Mol Med 2001, 8(5):509-511.
29. Krabbendam I., Dekker G.A. Pregnancy outcome in patients with a history of recurrent spontaneous miscarriages and documented thrombophilias. Gynecol Obstet Invest 2004, 57(3):127-131.
30. den Heijer M., Rosendaal F.R., Blom H.J., et al. Hyperhomocysteinemia and venous thrombosis: a meta-analysis. Thromb Haemost 1998, 80(6):874-877.
31. Eichinger S. Homocysteine, vitamin B6 and the risk of recurrent venous thromboembolism. Pathophysiol Haemost Thromb 2003, 33(5-6):342-344.
32. den Heijer M., Willems H.P., Blom H.J., et al. Homocysteine lowering by B vitamins and the secondary prevention of deep vein thrombosis and pulmonary embolism: a randomized, placebo-controlled, double-blind trial. Blood 2007, 109(1):139-144.
33. Bezemer I.D., Doggen C.J., Vos H.L., et al. No association between the common MTHFR 677C->T polymorphism and venous thrombosis: results from the MEGA study. Arch Intern Med 2007, 167(5):497-501.
34. Nurk E., Tell G.S., Refsum H., et al. Associations between maternal methylenetetrahydrofolate reductase polymorphisms and adverse outcomes of pregnancy: the Hordaland Homocysteine Study. Am J Med 2004, 117(1):26-31.
35. Molloy A.M., Mills J.L., Kirke P.N., et al. Folate status and neural tube defects. Biofactors 1999, 10(2-3):291-294.
36. Ceyhan S.T., Beyan C., Bahce M., et al. Thrombophilia-associated gene mutations in women with pregnancies complicated by fetal neural tube defects. Int J Gynaecol Obstet 2008, 101(2):188-189.
37. Akar N., Akar E., Deda G., et al. Spina bifida and common mutations at the homocysteine metabolism pathway. Clin Genet 2000, 57(3):230-231.
38. Molloy A.M., Weir D.G., Scott J.M. Homocysteine, folate enzymes and neural tube defects. Haematologica 1999, 84(Suppl EHA-4):53-56.
39. Coulam C.B., Jeyendran R.S., Fishel L.A., et al. Multiple thrombophilic gene mutations rather than specific gene mutations are risk factors for recurrent miscarriage. Am J Reprod Immunol 2006, 55(5):360-368.
40. Kutteh W.H., Triplett D.A. Thrombophilias and recurrent pregnancy loss. Semin Reprod Med 2006, 24(1):54-66.
41. Brenner B., Sarig G., Weiner Z., et al. Thrombophilic polymorphisms are common in women with fetal loss without apparent cause. Thromb Haemost 1999, 82(1):6-9.
42. Sarig G., Younis J.S., Hoffman R., et al. Thrombophilia is common in women with idiopathic pregnancy loss and is associated with late pregnancy wastage. Fertil Steril 2002, 77(2):342-347.
43. Kupferminc M.J., Eldor A., Steinman N., et al. Increased frequency of genetic thrombophilia in women with complications of pregnancy. NEngl J Med 1999, 340(1):9-13.
44. Castoldi E., Simioni P., Kalafatis M., et al. Combinations of 4 mutations (FV R506Q, FV H1299R, FV Y1702C, PT 20210G/A) affecting the prothrombinase complex in a thrombophilic family. Blood 2000, 96(4):1443-1448.
45. Infante-Rivard C., David M., Gauthier R., et al. Lupus anticoagulants, anticardiolipin antibodies, and fetal loss. A case-control study. NEngl J Med 1991, 325(15):1063-1066.
46. Lockshin M.D. Pregnancy loss in the antiphospholipid syndrome. Thromb Haemost 1999, 82(2):641-648.
47. James A. Practice bulletin no. 123: thromboembolism in pregnancy. Obstet Gynecol 2011, 118(3):718-729.
48. Lonn E., Yusuf S., Arnold M.J., et al. Homocysteine lowering with folic acid and B vitamins in vascular disease. NEngl J Med 2006, 354(15):1567-1577.