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Horton, Amanda L.; Momirova, Valerija; Dizon-Townson, Donna; Wenstrom, Katharine; Wendel, George; Samuels, Philip; Sibai, Baha M.; Spong, Catherine Y.; Cotroneo, Margaret; & Sorokin, Yoram, et al. (2010). Family History of Venous Thromboembolism and Identifying Factor V Leiden Carriers during Pregnancy. Obstetrics & Gynecology, 115(3), 521-525. PMCID: PMC3004365


OBJECTIVE: To estimate whether there is a correlation between family history of venous thromboembolism and factor V Leiden mutation carriage in gravid women without a personal history of venous thromboembolism.
METHODS: This is a secondary analysis of a prospective observational study of the frequency of pregnancy-related thromboembolic events among carriers of the factor V Leiden mutation. Family history of venous thromboembolism in either first- or second-degree relatives was self-reported. Sensitivity, specificity, and positive and negative predictive values of family history to predict factor V Leiden mutation carrier status were calculated.
RESULTS: Women without a personal venous thromboembolism history and with available DNA were included (n=5,168). One hundred forty women (2.7% [95% confidence interval (CI) 2.3-3.2%]) were factor V Leiden mutation-positive. Four hundred twelve women (8.0% [95% CI 7.3-8.7%]) reported a family history of venous thromboembolism. Women with a positive family history were twofold more likely to be factor V Leiden mutation carriers than those with a negative family history (23 of 412 [5.6%] compared with 117 of 4,756 [2.5%], P<.001). The sensitivity, specificity, and positive predictive value of a family history of a first- or second-degree relative for identifying factor V Leiden carriers were 16.4% (95% CI 10.7-23.6%), 92.3% (95% CI 91.5-93.0%), and 5.6% (95% CI 3.6-8.3%), respectively.
CONCLUSION: Although a family history of venous thromboembolism is associated with factor V Leiden mutation in thrombosis-free gravid women, the sensitivity and positive predictive values are too low to recommend screening women for the factor V Leiden mutation based solely on a family history.


Reference Type

Journal Article

Year Published


Journal Title

Obstetrics & Gynecology


Horton, Amanda L.
Momirova, Valerija
Dizon-Townson, Donna
Wenstrom, Katharine
Wendel, George
Samuels, Philip
Sibai, Baha M.
Spong, Catherine Y.
Cotroneo, Margaret
Sorokin, Yoram
Miodovnik, Menachem
O'Sullivan, Mary Jo
Conway, Deborah
Wapner, Ronald J., for the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) Maternal-Fetal Medicine Units (MFMU) Network) [
John M. Thorp, Jr., Member