Frequency of Thrombophilic Factors in Patients with Recurrent Pregnancy Loss
Author: Zlatko Kirovakov*, Nadezhda Hinkova, Emiliana Konova, Stefani Markova
University Multi - profile Hospital for Active Treatment –Burgas, Burgas 8000, Bulgaria.
Published Date: 2024-03-23
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Keywords: Thrombophilia, hereditary, pregnancy, genetic disorders, fetal growth.
Abstract:
Background: A category of hereditary diseases known as Thrombophilia induces irregular blood clotting. Pre-eclampsia, late miscarriages, premature delivery, fetal growth restriction, and deep venous thrombosis are all associated with Thrombophilia. A higher incidence of recurrent pregnancy loss (RPL) or recurrent early pregnancy loss (REPL) in the initial 6–10 weeks of conception may be seen in homozygous individuals for particular thrombophilic variables. A healthy uteroplacental circulation is necessary for a favorable pregnancy outcome. It has been hypothesized that maternal Thrombophilia could raise the probability of preeclampsia and intrauterine growth retardation (IUGR). ACE D/D (angiotensin-converting enzyme deletion/deletion) genotype and PAI 4G/4G (plasminogen activator inhibitor-1 4G/4G) genotype have been associated with an increased risk for these conditions and high blood pressure (hypertension).
Aim of this study is to determinate the frequency of the different thrombophilic mutations in patients with recurrent pregnancy loss.
Methods: A prospective cohort study included 309 pregnant patients with gestational age from 6 to 12 gestational weeks. The patients have a history of recurrent pregnancy loss in the past. Inherited Thrombophilia test was performed on each research participants as part of preconception counseling.
Results: Plasminogen activator inhibitor 1(PAI – I) 4G/4G was the most prevalent form of thrombophilic mutation identified (82,83%), followed by MTHFR mutation (85.43%), mutations in the prothrombin gene (12,61%) and factor V Leiden (12.29%). Additionally, (12.62%) of pregnant women had IUGR babies, (29,44%) of patients had preeclampsia as a diagnosis and gestational diabetes (24,27%).
In conclusion - The genetic landscape significantly impacts the trajectory of pregnancy-related complications. This study sheds light on the pivotal roles played by genetic mutations, elucidating potential avenues for refined clinical management and targeted interventions. The early detection of these genetic variations paves the way for enhanced personalized care strategies, ultimately benefitting the well-being of both maternal and fetal domains.
