BACKGROUND AND OBJECTIVES In this retrospective, single center, cohort study we assessed the risk of pregnancy-related venous thromboembolism (VTE) in women belonging to a large number of families identified because of a symptomatic proband with single identified factor V Leiden mutation. DESIGN AND METHODS Female family members who had experienced at least one full-term pregnancy were enroll...

Gestational vascular complications are a major cause of maternal and fetal morbidity. A growing body of evidence suggests significant correlation of inherited and acquired thrombophilia with pregnancy loss, pre-eclampsia, eclampsia, placental abruption, intrauterine growth restriction (IUGR), and intra uterine fetal death (IUFD). Placental pathological findings in women with thrombophilia are c...

AIMS To undertake a systematic review of the literature reporting the prevalence of thrombophilia in children with a first arterial ischaemic stroke (AIS). METHODS Systematic review of case-control studies reporting data for prevalence of protein C, S, and antithrombin (AT) deficiencies, activated protein C resistance (APCr), total plasma homocysteine >95th centile, the thrombophilic mutation...

BACKGROUND Recurrent miscarriage (RM) is a frequent obstetric problem. Its' pathophysiology is poorly understood. Infections, genetic, endocrine, anatomic and immunologic problems have been suggested as causes for RM. OBJECTIVE To evaluate the frequency of chromosomal abnormalities and 3 common thrombophilic mutations in couples with RM. METHODS A retrospective data collection was performed...

BACKGROUND AND PURPOSE The objective was to investigate the role of infant and maternal thrombophilia in a cohort of mothers and infants presenting with perinatal arterial ischemic stroke. METHODS Forty-seven infants with clinically and radiologically confirmed perinatal arterial ischemic stroke underwent thrombophilia workup: factor V Leiden (FVL), PII20210A mutation, Methylene-tetrahydrofol...

BACKGROUND AND OBJECTIVES Intrauterine growth restriction is an important cause of morbidity and mortality. Its pathogenesis is still a matter of debate. The aim of this study was to evaluate the association between intrauterine growth restriction (diagnosed in utero by serial ultrasound examinations and characterized by abnormal umbilical arterial Doppler velocimetry) and thrombophilic polymor...

BACKGROUND Stratification for risk of recurrence after a first episode of venous thromboembolism (VTE) would affect the duration of anticoagulant therapy. We aimed to determine the incidence of recurrence of VTE in relation to clinical risk factors and standard laboratory testing for heritable thrombophilic defects. METHODS We established a database to prospectively follow-up a cohort of unse...

The feasibility and cost-effectiveness of screening women for congenital thrombophilic alterations before oral contraceptive (OC) treatment was investigated. A total of 525 women (mean age 21.9 years, 73% aged < 25 years) were examined before their first OC course. At first screening, completely normal results were recorded in 485 (92.4%) women, the remaining showing single (n = 34) or multiple...

BACKGROUND Recurrent pregnancy loss (RPL) defined by two or more failed pregnancies before 20 weeks of gestation. Several factors play a role in RPL including thrombophilic conditions which can be influenced by gene polymorphisms. Plasminogen activator inhibitor-1 (PAI-1) and angiotensin converting enzyme (ACE) genes are closely related to fibrinolytic process, embryonic development and pregnan...

Our aim was to investigate the activities of antioxidative defense enzymes in the placenta, fetal blood and amnion fluid in inherited thrombophilia. Thrombophilia was associated with nearly threefold increase of activity (p < 0.001) of the placental catalase (81.1 +/- 20.6 U/mg of proteins in controls and 270.0 +/- 69.9 U/mg in thrombophilic subjects), glutathione (GSH) peroxidase (C: 20.2 +/- ...