Sample bias among women with retained DNA samples for future genetic studies

Kjersti Aagaard-Tillery, Baha Sibai, Catherine Y. Spong, Valerija Momirova, George Wendel, Katharine Wenstrom, Philip Samuels, Margaret Cotroneo, Atef Moawad, Yoram Sorokin, Menachem Miodovnik, Paul Meis, Mary J. O'Sullivan, Deborah Conway, Ronald J. Wapner

Research output: Contribution to journalArticlepeer-review

15 Scopus citations


OBJECTIVE: To evaluate whether women who agree to future use of their biologic specimens for genetic studies reflect the larger study population from which they are derived. METHODS: Women were questioned as to the future disposition of their maternal and fetal DNA samples upon enrollment in a multicenter, observational study originally designed to identify factor V Leiden mutation carriers and prospectively ascertain the estimated rate of pregnancy-related venous thromboembolism and adverse pregnancy outcome. Univariate and multivariate analyses was carried out on the 5,003 of 5,188 enrolled women who indicated their desire regarding future disposition of their DNA samples. RESULTS: Among these 5,003 women, 20.1% desired that their samples be discarded and not available for future genetic studies. Multivariate analysis demonstrated that women who agreed to subsequent use of samples were less likely African-American (odds ratio [OR] 0.6, 95% confidence interval [CI] 0.4-0.7) or Hispanic (OR 0.4, 95% CI 0.3-0.5), and more likely to use tobacco (OR 1.2, 95% CI 1.0-1.6) than those who desired that their samples be discarded. CONCLUSION: Genetic samples from women agreeing to their use in a sample repository may not be representative of the index study cohort. This should be considered in their subsequent interpretation and generalizability.

Original languageEnglish (US)
Pages (from-to)1115-1120
Number of pages6
JournalObstetrics and gynecology
Issue number5
StatePublished - Nov 2006

ASJC Scopus subject areas

  • Obstetrics and Gynecology


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