Inherited Thrombophilia and the Risk of Vascular Events

Novaković, Ivana; Cvetković, Dragana; Maksimović, Nela

doi:10.5772/25999

Cited by 4 publications

(5 citation statements)

References 44 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Homozygous state, less frequent than the heterozygous one, makes the risk of thrombosis to grow significantly. Also, the presence of several mutations in coagulation factors in the same individual (double heterozygous status), predisposes to notable consequences (3).…”

Section: Hereditary Thrombophiliamentioning

confidence: 99%

“…There are a large number of women with mutations in clotting factors, but without individual risk factors, with no history of pregnancy loss in second or third trimester, without significant family history, this women will have a normal pregnancy progression without complications. When homozygous Factor V Leiden gene mutation or G20210A prothrombin gene mutation is present, we can frame the thrombophilia at high risk of developing complications (3)(4)(5).…”

Section: Inherited Thrombophilia and Iugrmentioning

confidence: 99%

See 1 more Smart Citation

Maternal and Fetal Complications Occurring in Hereditary Thrombophilia

Nacea¹,

Cernea²,

Enăchescu³

et al. 2017

Ro J Pediatr.

View full text Add to dashboard Cite

Objective. To identify qualitative and quantitative changes involving coagulation factors engaged in maternal and fetal complications, to determine the level of correlation between them, and to highlight the involvement of hereditary thrombophilia among pregnant women. Material and method. The article is based on 92 publications from 1995 to 2017, including a total of 49,127 thrombophilic patients, of whom 1272 were controls, with inclusion criteria as preeclampsia, intrauterine growth retardation, or early or late pregnancy loss Results. 31 studies based on preeclampsia-demonstrate the involvement of G1691A factor V Leiden gene mutation, G20210A Prothrombin gene mutation and/or C677T and A1298C MTHFR gene mutation as the main factors in the development of this complication. 10 studies focuses on the intrauterine growth restriction place G20210A Factor V Leiden gene mutation, G20210A Prothrombin gene mutation, C677T and A1298C MTHFR gene mutation, protein C and protein S deficiency as the main factors involved. Another 32 studies cite the involvement of factor V Leiden mutation, Prothrombin mutation and MTHFR mutation in the development of early or late pregnancy losses. Conclusion. Based on 92 rigorously selected publications, we were able to demonstrate the relationship between medium/increased risk thrombophilia and pregnancy outcome, especially due to the presence of factor V Leiden gene mutation, Prothrombin gene mutation but also MTHFR gene mutation homozygous status.

show abstract

Section: Hereditary Thrombophiliamentioning

confidence: 99%

Section: Inherited Thrombophilia and Iugrmentioning

confidence: 99%

Maternal and Fetal Complications Occurring in Hereditary Thrombophilia

Nacea¹,

Cernea²,

Enăchescu³

et al. 2017

Ro J Pediatr.

View full text Add to dashboard Cite

show abstract

“…Prothrombotic phenotype results from the interaction of genetic predisposing factors and »clinical« risk factors such as obesity, immobility, major and minor surgery, hormone therapy, malignancy, etc (16). The most common congenital disorders associated with thrombophilia are: a deficiency of anti thrombin, protein C and protein S, variants of factor V Leiden and prothrombin 20210, and mild hyperhomocysteinemia.…”

Section: Standard Genetic Testing In Thrombophiliamentioning

confidence: 99%

“…Individually or in combination, these traits are present in about 40% of patients with venous thromboembolism, and in approximately the same percentage of women with disorders of pregnancy and puerperium, such as fetal loss, fetal growth restriction and preeclampsia (17). Direct molecular genetic detection of genetic thrombophilia risk factors including factor V Leiden, prothrombin G20210A, and MTHFR (methyl en etetrahydrofolate-reductase) C677T mutations is of fered by many clinical diagnostic laboratories (16)(17)(18). The Laboratory of Molecular Genetics at the Insti tute of Human Genetics, University of Belgrade School of Medicine, Bel grade, in cooperation with the Clinic of Hematology and Neurology Clinic, Clinical Center of Serbia, have been performing these analyses for one decade.…”

Section: Standard Genetic Testing In Thrombophiliamentioning

confidence: 99%

Introduction to Molecular Genetic Diagnostics / UVOD U MOLEKULARNU GENETIČU DIJAGNOSTIKU

Novaković¹,

Maksimović²,

Pavlović³

et al. 2014

Journal of Medical Biochemistry

View full text Add to dashboard Cite

Summary Molecular genetic testing is part of modern medical practice. DNA tests are an essential part of diagnostics and genetic counseling in single gene diseases, while their application in polygenic disorders is still limited. Pharmacogenetics studies DNA variants associated with variations in drug efficacy and toxicity, and tests in this field are being developed rapidly. The main method for molecular genetic testing is the polymerase chain reaction, with a number of modifications. New methods, such as next generation sequencing and DNA microarray, should allow simultaneous analysis of a number of genes, even whole genome sequencing. Ethical concerns in molecular genetic testing are very important, along with legislation. After molecular genetic testing, interpretation of results and genetic counseling should be done by professionals. With the example of thrombophilia, we discuss questions about genetic testing, its possibilities and promises.

show abstract

“…DNA tests for factor V Leiden and PT 20210A mutation have been incorporated in clinical practice for several years [1,2,3]. A number of studies have analyzed how this and other molecular genetic testing alter the clinical management and treatment of patients with thromboembolic disease or pregnancy complications.…”

Section: Introductionmentioning

confidence: 99%