Thrombophilia reflects a hypercoagulable condition with an increased thrombogenic potential during pregnancy. The most frequent causes of inherited thrombophilia are the factor V Leiden mutation and the prothrombin gene mutation. Repetitively, it has been hypothesised that thrombophilic mutations associate an increased risk of thrombosis at the low flow maternal-placental interface resulting in placenta-mediated complications, such as miscarriage, fetal loss, pre-eclampsia, fetal growth impairment, and abruption. Our prospective study aimed to determine the impact of thrombophilic mutations on second and third trimester umbilical and uterine artery Doppler parameters. Four hundred and forty-eight pregnant women were tested for the presence of factor V Leiden mutation, prothrombin gene mutation and also for a series of minor thrombophilic mutations. Each patient included in the study has been examined by ultrasound corresponding to its gestational age with the measurement of umbilical and uterine artery velocity. The measured parameters (pulsatility index and resistivity index) were interpreted consistent with gestational age nomograms. The incidence of factor V Leiden mutation was 10.4% in the studied group and the incidence of the prothrombin gene mutation was 4.46%; 11 cases (2.4%) expressed both major mutation. In 6.6% of cases corresponding to second trimester pregnancies with factor V Leiden mutation an increased pulsatility index of umbilical artery was found and 11% of these cases had a high pulsatility index of the uterine artery. For the cases with both major thrombophilic mutations present, Doppler parameters were increased in 4 from 6 cases. Even if inherited thrombophilia is not considered a major risk factor for most adverse pregnancy outcomes, Doppler assessment of fetal status is imperative for high-risk population. In our study, the impact of thrombophilia on Doppler indices was modest and limited to major mutations.
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