title: [Prevalence of factor V Leiden, hyperhomocysteinemia, prothrombin G20210A, and methylene tetrahydrofolate reductase C677T mutations in obstetrical complications].
abstract: The etiology and pathogenesis of intrauterine fetal death, preeclampsia or fetal growth retardation remain still unknown in many cases. However, placental thrombosis and/or infarction might lead to inadequate maternal-fetal circulation. So, the relevance of an additional thrombotic risk factor that enhances the physiological hypercoagulable state of gestation has been suggested in the development of these adverse outcomes of pregnancy. Several genetic mutations are newly recognized associated with an increased frequency of venous thrombosis: mutation of adenine to guanine at nucleotide 506 in the factor V gene, mutation of cytosine at nucleotide 677 in the methylenetetrahydrofolate gene and mutation of guanine to adenine at nucleotide 20210 in the prothrombin gene. In this issue, a review of literature has allowed us to evaluate the prevalence of these genetic predisposing thrombotic factors with the development of obstetrical complications. Furthermore, therapeutic approach is considered.
authors.affiliation: Service d'hématologie biologique, Hôpital Tenon, 4, rue de la Chine, 75020 Paris.
authors.forename: E
authors.initials: E
authors.lastname: Verdy
authors.forename: N
authors.initials: N
authors.lastname: Berkane
authors.forename: A
authors.initials: A
authors.lastname: Magdelaine
authors.forename: F
authors.initials: F
authors.lastname: Soubrier
authors.forename: S
authors.initials: S
authors.lastname: Uzan
mesh_terms: D005165:Factor V / Q000235:genetics*; D005260:Female; D005313:Fetal Death / Q000209:etiology; D005317:Fetal Growth Retardation / Q000209:etiology; D005333:Fetus / Q000098:blood supply; D020022:Genetic Predisposition to Disease; D006801:Humans; D020138:Hyperhomocysteinemia / Q000235:genetics*; D007238:Infarction / Q000150:complications; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D009154:Mutation / Q000235:genetics*; D000587:Oxidoreductases Acting on CH-NH Group Donors / Q000235:genetics*; D010920:Placenta / Q000098:blood supply; D017354:Point Mutation / Q000235:genetics*; D011225:Pre-Eclampsia / Q000209:etiology; D011247:Pregnancy; D011248:Pregnancy Complications / Q000097:blood / Q000201:enzymology; D011516:Prothrombin / Q000235:genetics*; D013927:Thrombosis / Q000150:complications
chemical_list: C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin; D000587:Oxidoreductases Acting on CH-NH Group Donors; D042965:Methylenetetrahydrofolate Reductase (NADPH2)