The Utilization and Choices of Aneuploidy Screening in a Midwestern Population

Jeffrey M. Dicke, Lindsey Van Duyne, Rachael Bradshaw

Research output: Contribution to journalArticlepeer-review

5 Scopus citations


The types, interpretation, and use of first- and second-trimester aneuploidy screening are often unclear for many women. This impairs appropriate decision making and understanding of the implications of prenatal genetic testing options. The purpose of this study was to examine the utilization of Stepwise Sequential screening in our Midwestern population, demographic factors associated with choice of screening and method of risk reporting and it’s potential impact on women’s choices. First trimester screening was performed for 2,634 women during the study period. Results were not reported or “framed” as “positive” or “negative”. Rather, the specific age-risk and screen-risk for T21 were relayed, along with options for follow-up Stepwise Sequential screening and invasive testing. Nearly 80 % of women declined Stepwise Sequential screening. Minorities and women of lower education were least likely to pursue further screening. Less than 4 % of the study population elected invasive testing. First trimester screening was associated with a 53 % reduction in amniocenteses and 20 % fewer CVS’s compared to pre-first trimester screening availability. Reporting age-and screen-risks for T21, rather than classifying results as “positive” or “negative” based on a pre-determined threshold, was associated with a low uptake of further testing.

Original languageEnglish
Pages (from-to)874-880
Number of pages7
JournalJournal of Genetic Counseling
Issue number5
StatePublished - Oct 1 2014


  • Amniocentesis
  • Aneuploidy
  • CVS
  • First trimester
  • Screening
  • Second trimester


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