Pregnancy is a hypercoagulable state, and women with thrombophilia are at increased risk for thrombosis during pregnancy and adverse maternal and fetal sequelae. These problems include both early recurrent miscarriage and late placental vascularmediated problems fetal loss, preeclampsia, placental abruption and intrauterine growth restriction. The most important risk factor for a women experiencing pregnancyrelated vte is prior personal history of vte. Thrombophiliaassociated pregnancy wastage zeev blumenfeld, m. Lots of them practice intense physical activities on a regular basis, such as hiking or diving, under high conditions of pressure, and hypoxia in association with thrombophilia may lead to. This topic will discuss issues related to inherited thrombophilias in pregnant women. Thus, in view of the established risk of vte with thrombophilia in pregnancy, women with possible thrombophilia undergoing assisted conception therapy require special consideration with regard to their risk of thrombosis and need for prophylaxis.
The abovequoted papers refer to the pregnancy loss rate in the presence of thrombophilias. Pregnancy can increase the risk factor for clotting that in abnormal. The antiphospholipid syndrome, described in great detail elsewhere in this book, is an acquired thrombophilia with a. This chapter will focus on inherited and acquired thrombophilia in pregnancy, except for the. Problems in early pregnancy are among the most common conditions in gynaecology and obstetrics, and in recent years have become an increasingly studied and important field of reproductive medicine. Thrombophilia is defined as an abnormality of the coagulation or fibrinolytic system that results in a hypercoagulable state and increases the risk of an individual for a thrombotic event in which intravascular thrombus formation may be arterial or venous. Prothrombin thrombophilia genetics home reference nih. Pregnancyestrogen inflammation diagnosis use an activity assay measure pt at same time avoid situations associated with. This book helps the readers in learning the current observations regarding the effect and management of motherfetal thrombophilia, the achievement required for gestation complication prevention and formulating an effective pregnancy valuation.
Thrombophilia in pregnancy what we know thrombophilia, defined as the tendency to develop venous thrombosis i. Recent guidelines indicate that in most cases thrombophilia testing will not influence management or determine individual risk. However, the optimal management for asymptomatic pregnant women who have inherited thrombophilia is uncertain and recognized only due to pregnancy complications such as recurrent pregnancy loss and preeclampsia. College of chest physicians evidencebased clinical practice guidelines.
The rcog guidelines similarly recommend consideration of antenatal lmwh prophylaxis in asymptomatic patients with homozygosity for fvl. Pregnancy thrombophilia the unsuspected risk intechopen. There is insufficient evidence to draw any conclusions regarding the strength of association between inherited thrombophilia and adverse pregnancy outcomes. The danger with blood clot formation during pregnancy is not only the threat to the mother but also the fact that a blood clot can form in the blood vessel leading to the placenta, restricting or completely stopping blood flow to the fetus. Key concepts and clinical treatment bradley, alex on. In the absence of thrombophilia, pregnant patients with prior vte not associated with estrogen andor pregnancy may undergo surveillance and postpartum anticoagulation therapy. Inherited and acquired thrombophilia in pregnancy intechopen. However, the presumed relationship between thrombophilia and recurrent pregnancy loss has become sufficient to allow the presence of thrombophilas to be an indication for treatment with anticoagulant drugs younis et al. Prothrombin thrombophilia is the second most common inherited form of thrombophilia after factor v leiden thrombophilia. The guidelines for the prophylaxis and treatment of these conditions with anticoagulants are also in need of large scale randomized controlled trials to confirm the advantage and risk. Nonclotting blood freely flows to and nourishes the baby. Thrombophilia, recurrent miscarriage and infertility.
Inherited thrombophilias are genetic conditions that increase the risk for. Pdf on nov 9, 2011, feroza dawood and others published inherited and. Development of thrombosis in pregnancy is multifactorial due to the. Early pregnancy is the first book to embrace a multidisciplinary approach to this rapidly growing field. Risk factors for vte include advancing age, travel, surgery. Inherited thrombophilia is a genetic tendency to venous thromboembolism. Management of inherited thrombophilia in pregnancy ncbi.
Dresang, md, university of wisconsin school of medicine and public health, madison, wisconsin pat fontaine, md, ms, university of minnesota. Pregnancy thrombophilia poses serious challenges for both the mother and the fetus. Development of thrombosis in pregnancy is multifactorial due to the physiologic changes of pregnancywhich induce a relative hypercoagulable stateas well as physical changes leading to increased stasis and also the effects of both the inherited and the acquired thrombophilias. The hemostatic system plays an important role in the success of pregnancy and the process of implantation, and placentation. Thrombophilia in pregnancy journal of clinical pathology the bmj. Throughout an entire normal pregnancy, the mothers ability to produce blood clots in the uterus and the placenta is suppressed. Da costa the blakiston company this book, designed as a practical guide to the examination of the blood by methods adapted to routine clinical work, represents an endeavor to recount the salient facts of hematology as they are understood at the present time. The role of thrombophilia testing in women with adverse pregnancy. Due to poor quality casecontrol and cohort study designs, there is often an increase in the. Recently, three important inherited thrombophilias have been discovered. Increased rates of thrombophilia in women with repeated. Thrombotic disease is a major cause of peripartum morbidity and mortality worldwide.
Pdf inherited and acquired thrombophilia in pregnancy. N2 the physiological changes that occur during pregnancy create a hypercoagulable milleu. Venous thromboembolism vte is a common, complex disease associated with both environmental and genetic risk factors. The associations between hereditary thrombophilias and adverse pregnancy outcomes are generally less robust. In patients with a lowrisk thrombophilia who have a history of vte, management includes surveillance or prophylactic or intermediatedose heparin therapy antepartum. This book helps the readers in learning the current observations regarding the effect and management of motherfetal thrombophilia. This condition may be inherited or acquired, and this is why the term is often used in plural. He received his md from yale university and completed internship and residency in internal medicine at brigham and womens hospital and harvard medical school. Thrombophilia testing is expensive and the positive yield of such investigations, in particular with respect to informing management in a subsequent pregnancy, is low.
Genetic testing for pharmacogenetic and thrombophilia. An inherited mutation in the gene coding for coagulation factor v factor v leiden, and a mutation in prothrombin that is associated with higher plasma. Management of thrombophilia university of wisconsin. Pregnancy thrombophilia the unsuspected risk encompasses complete manysides aspects of thrombophilic conditions during pregnancy, including clinical and basic knowledge approach faced to. A successful pregnancy is dependent on the development of an adequate fetomaternal circulation, relying on adequate placental circulation.
A number of studies have examined the association between thrombophilia and complications of pregnancy. Inherited thrombophilias are genetic conditions that increase the risk of thromboembolic disease. During pregnancy, the thrombogenic potential of these inherited disorders is enhanced because of the hypercoagulable state produced by normal pregnancyassociated physiologic changes in several coagulation factors see maternal adaptations to pregnancy. This condition is less common in other ethnic groups, occurring in less than one percent of african american, native american, or asian populations. Approximately 1 in 50 people in the white population in the united states and europe has prothrombin thrombophilia. Antiphospholipid syndrome, an acquired thrombophilia, is associated with adverse pregnancy outcomes including recurrent fetal loss. The role of thrombophilia testing in women with adverse. Prospective cohort studies have confirmed that the majority of women who carry inherited thrombophilias do not experience adverse pregnancy outcomes. The role of thrombophilia testing in arterial thrombosis and for evaluation of recurrent pregnancy loss is not addressed.
Thrombophilia symptoms, treatment, during pregnancy, testing. During pregnancy, thrombophilia can further increase the risk for certain complications from clotting problems. Thrombophilia in pregnancy inherited main and danish guidelines by the web master. The role of thrombophilia testing in women with adverse pregnancy outcomes julia unterscheider md phd mrcog mrcpi franzcog ddu,a, stefan c kane mbbs ba bmedsc franzcog ddu,b briony cutts md fracp frcpa,c helen savoia frcpa,c joanne m said mbbs franzcog cmfm phd grad dip epid d aconsultant obstetrician and clinical senior lecturer, university of melbourne, department of. Finally, thromboembolism in pregnancy as in the nonpregnant state is linked to thrombophilia. Ten to 15 percent of western population has thrombophilia and these disorders are responsible, at least in part, for approximately onehalf of cases of maternal thromboembolism related to pregnancy. Thromboembolic disease during pregnancy is a significant cause of maternal. Increased rates of thrombophilia in women with repeated ivf failures. The second most common risk factor is thrombophilia, 14, 15 which is present in 8%15% of whites. A guide for midwives and doctors by who, united nations population fund, unicef, the world bank arabic, english, french, indonesian, italian, russian, spanish pdf. Thrombophilia is a group of different disorders that cause blood to clot abnormally. Download freecourseweb pregnancy thrombophilia the. Isbn 9789533078724, pdf isbn 9789535167402, published 20111109 thrombophilia s is a condition of increased tendency to form blood clots.
Statements are based on existing guidelines and consensus expert opinion where guidelines are lacking. The term hereditary or inherited thrombophilia has most commonly been applied to conditions in which a genetic mutation affects the amount or function of a protein in the coagulation system. The book encompasses complete manysides aspects of thrombophilic conditions during pregnancy, including clinical and basic knowledge approach faced to. Although most patients with thrombophilias never develop vte, at least 20%, and possibly over 50%, of pregnant patients diagnosed with vte have a thrombophilia. Each pregnant woman is theorized to have a four times higher risk of an abnormal clot when compared to woman who are not pregnant. Thrombophilia describes a state of hypercoagulability that leads to an increased risk of thrombotic. This hypercoagulable state is thought to be protective, especially at the time of labor, preventing excessive hemorrhage. Pregnancy thrombophilia the unsuspected risk, edited by petar ivanov 7 chapters online reading only view download managing complications in pregnancy and childbirth. Guidelines on the investigation and management of throm. Thrombophilia is an inherited or acquired condition that predisposes individuals to venous andor arterial thrombosis.
In pregnancy the preexistence of a thrombophilic disorder may exaggerate the physiologically induced state of hypercoagulation and therefore potentiate the thrombotic risk. There is a paucity of strong evidence associated with adverse pregnancy outcomes and thrombophilia in pregnancy. Prevalence of genetic markers for thrombophilia in. Thrombophilia describes a state of hypercoagulability that leads to an increased risk of thrombotic events. Home books embolic diseases evolving diagnostic and management. Prior to the discovery of activated protein c resistance in. Pulmonary embolism pe, arising from deepvein thrombosis dvt is the leading cause of maternal death in the uk department of health welsh of. Clinical appropriateness guidelines genetic testing for. Journal of imab annual proceeding scientific papers 2008, book 1. Loss of function mutations include those affecting antithrombin at, protein c pc and protein s ps. Thrombophilia is a common cause of rpl and may be seen in 4050% of cases. Thrombophilia and pregnancy reproductive biology and. Kupferminc, increased rates of thrombophilia in women with repeated ivf failures, human reproduction, volume 19, issue 2.
1515 353 936 726 1344 672 1291 621 476 366 447 450 1070 1055 636 863 1249 52 1141 975 962 1366 591 965 1331 304 772 165 234 691 710 846 1052 1444 669 915 1201