What women want: General population perspectives and access to preconception expanded carrier screening

Liya Rabkina*, Amy Swanson, Sharon Aufox, Lauren Propst, Morris Fiddler, Andrew Wagner, Aishwarya Arjunan

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

8 Scopus citations


Objective: Expanded carrier screening (ECS) assesses the risk of individuals and couples of having a child affected with a set of genetic conditions. Carriers have options available to optimize pregnancy outcomes based on personal values and preferences. The greatest range of options is available prior to pregnancy, therefore professional societies recommend this screening be performed preconception. This study aimed to assess awareness of, and interest in, ECS in women preconception. Additionally, it aimed to evaluate preferences for timing and location of education and availability of ECS. Methods: A total of 260 nulliparous women from the general population were surveyed through Qualtrics, a national market research survey platform. Data were delineated using descriptive statistics. Results: Of this cohort, 43.5% reported being aware of ECS prior to the survey and 77.8% indicated interest. Those previously aware were first informed by family, friends, or independent online research. Interest was primarily driven by a desire for reassurance and to make informed decisions about future pregnancies. Interested respondents indicated a willingness to request testing from providers. Participants showed a preference for education and access from a healthcare provider in person. Conclusion: These findings provide insight regarding when and where to best educate and reach women prior to pregnancy about ECS to maximize pregnancy outcomes.

Original languageEnglish (US)
Pages (from-to)1057-1065
Number of pages9
JournalPrenatal Diagnosis
Issue number9
StatePublished - Aug 2021

ASJC Scopus subject areas

  • Genetics(clinical)
  • Obstetrics and Gynecology


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