Similar Publications

Assessment of a next generation sequencing gene panel strategy in 133 patients with negative thrombophilia screening.

J Thromb Haemost

December 2024

C2VN, INSERM, INRAE, Aix Marseille Univ, Marseille, France; Laboratory of Haematology, La Timone Hospital, Marseille, France. Electronic address:

Background: Although heritability of venous thromboembolism (VTE) is high, the thrombophilia screening appears to be positive only in a minority of VTE patients. Adding rare variants screening to identify VTE missing heritability still requires further assessment.

Objective: We report the results of a panel strategy after 3 years of application.

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Objectives: Individuals with pelvic and acetabular fractures are at high risk of venous thromboembolism (VTE). The purpose of this study was to determine whether serum markers for thrombophilia and rapid thromboelastography (r-TEG) values correlate with increased VTE risk among patients with pelvic and acetabular fractures.

Design: Prospective observational study.

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Prioritisation of early pregnancy risk factors for stillbirth: An international multistakeholder modified e-Delphi consensus study.

Eur J Obstet Gynecol Reprod Biol

November 2024

WHO Collaborating Centre for Global Women's Health, Institute of Metabolism and Systems Research, University of Birmingham, UK; NIHR Birmingham Biomedical Centre (BRC), University Hospitals Birmingham, UK.

Objective: To identify and prioritise early pregnancy risk factors for stillbirth to inform prognostic factor and model research.

Study Design: We used a modified e-Delphi method and consultation meeting to achieve consensus. Risk factors for early, late and stillbirth at any gestation identified from an umbrella review of risk factors for stillbirth were entered into a two-stage online Delphi survey with an international group of stakeholders made up of healthcare professionals and researchers.

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Introduction: Chronic thromboembolic pulmonary hypertension (CTEPH) and venous thromboembolism (VTE) are thought to share many common risk factors. Our study aimed to determine the frequencies of 5 thrombosis-related gene single nucleotide polymorphisms (SNPs) associated with VTE in patients with CTEPH (n 129) compared with a control group of healthy individuals without a history of VTE (n 2637).

Methods: The SNPs of the following genes were investigated: (F V Leiden, rs6025), prothrombin (rs1799963), fibrinogen gamma (FGG, rs2066865), (rs2289252) and (non-O, rs8176719) in both groups.

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The dos, don'ts, and nuances of thrombophilia testing.

Hematology Am Soc Hematol Educ Program

December 2023

Division of Hematology and Hematologic Malignancies, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA.

Considerable progress has been made in elucidating genetic and biologic risk factors for venous thromboembolism (VTE). Despite being able to identify heritable defects in a substantial proportion of patients with VTE, testing has not, in general, proven useful in management. Despite efforts to reduce inappropriate testing, it often falls to the hematologist to consult on patients having undergone thrombophilia testing.

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