AI Article Synopsis
Article Abstract
Genetic testing for inherited thrombophilia, including mutation analysis for factor V Leiden and prothrombin G20210A, is commonly performed. Yet, tests for inherited thrombophilia are frequently ordered inappropriately, and without proper counseling about the risks, benefits and limitations of testing. Genetic counselors are uniquely trained to help people understand and adapt to medical, psychological and familial implications of genetic contributions to disease. In the context of thrombophilia, genetic counselors may serve as a resource to other clinicians to: (a) identify individuals and families at increased risk for inherited thrombophilia, (b) offer and explain testing to patients and families, as appropriate, (c) facilitate patient-focused decision-making and informed consent prior to testing, (d) interpret test results, (e) explain inheritance patterns and discuss implications of thrombophilia for family members and (f) provide education and support resources. This article will provide insight into the training and roles of genetic counselors, review indications for thrombophilia testing, and highlight specific issues related to genetic testing, including genetic discrimination concerns.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1007/s11239-007-0056-2 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Primary versus secondary recurrent pregnancy losses: Clinical findings and live birth rate after comprehensive work-up and personalized management.
Acta Obstet Gynecol Scand
January 2025
Department of Biomedical Sciences, Humanitas University, Milan, Italy.
Introduction: Recurrent pregnancy loss (RPL), defined as two or more consecutive pregnancy losses before 24 weeks of gestation, affects up to 1%-2% of couples. Aim of this retrospective cohort study was to report the main causes and pregnancy outcomes of a cohort of women with RPL and the efficacy of a personalized work-up and treatment in terms of live birth rate.
Material And Methods: Women with primary (pRPL) and secondary (sRPL) RPL underwent a complete work-up and personalized therapeutic management.
Low-dose aspirin versus placebo in postpartum venous thromboembolism: a multi-national, pilot, randomised, placebo-controlled trial.
Lancet Haematol
January 2025
Department of Medicine, McGill University, Montreal, QC, Canada.
Background: Despite the morbidity and mortality of venous thromboembolism, there is little evidence to guide postpartum thromboprophylaxis in patients at moderate risk. We aimed to assess the feasibility of conducting a double-blind, randomised trial of aspirin versus placebo in postpartum individuals with two or more venous thromboembolism risk factors, mild-to-moderate thrombophilia, or both.
Methods: The pilot PARTUM trial, a multi-national, randomised, double-blind, placebo-controlled trial, was conducted in seven centres across Canada, France, Ireland, and the Netherlands.
Role of Prothrombin and Methylenetetrahydrofolate Reductase Gene Polymorphisms as well as Thrombophilia Markers, as Risk Factors for Unexplained Recurrent Miscarriage: A Case-Control Study.
Int J Fertil Steril
January 2025
Clinical Pathology Department, Faculty of Medicine, Assiut University, Assiut, Egypt.
Background: Unexplained recurrent miscarriage (RM) is still an unsolved reproductive health problem. Inherited thrombophilias have been one of the causes. Mutation in genes encoding coagulation proteins, including prothrombin (PT G20210A) and methylenetetrahydrofolate reductase (MTHFR) genes, increase tendency for venous thromboembolism.
View Article and Find Full Text PDFMulti-Gene Panel for Thrombophilia Testing in Venous Thromboembolism.
J Thromb Haemost
January 2025
Department of Cardiovascular Diseases, University Hospitals Leuven, Leuven, Belgium; Center for Molecular and Vascular Biology, Department of Cardiovascular Sciences, KU Leuven, Leuven, Belgium.
Background: Conventional tests for inherited thrombophilia focus on the five most-established inherited thrombophilias; i.e. deficiencies in antithrombin, protein C, and protein S, and the factor V Leiden and prothrombin G20210A variants.
View Article and Find Full Text PDFA new hereditary PROS1 gene mutation caused isolated cortical venous thrombosis.
Thromb Res
February 2025
Department of Neurology, Fujian Institute of Geriatrics, Fujian Medical University Union Hospital, Fuzhou, Fujian, China. Electronic address:
Background: Protein S deficiency is a rare inherited disease. We report the case of a young man who unexpectedly developed isolated cortical vein thrombosis (ICoVT) associated with a novel PROS1 mutation.
Methods: Clinical symptoms were recorded, and physical examinations conducted.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!