Genetic risk assessment of pregnancy-associated venous thromboembolism: dual utility of maternal peripheral blood in NIPT and VTE evaluation.

ABSTRACT:

Objective

Venous thromboembolism (VTE) is a leading cause of maternal mortality, with pregnancy significantly increasing VTE risk due to physiological hypercoagulability. Current risk assessment methods, such as VTE scoring systems and D-dimer testing, have limitations in identifying high-risk individuals, highlighting the need for improved stratification.

Methods

Whole genome sequencing (WGS) was performed on peripheral blood samples collected from 29 pregnant women with clinically diagnosed VTE during routine non-invasive prenatal testin (NIPT). The analysis focused on a curated list of 162 thrombosis-related genes (18 high-risk, 144 moderate/low-risk), incorporating detection of pathogenic variants, copy number variations (CNVs). Genetic risk factors were compared against

SUBMITTER: Hua R 

PROVIDER: S-EPMC12870445 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature