Journal of Genetic Counseling

, Volume 23, Issue 5, pp 874–880 | Cite as

The Utilization and Choices of Aneuploidy Screening in a Midwestern Population

  • Jeffrey M. DickeEmail author
  • Lindsey Van Duyne
  • Rachael Bradshaw
Original Research


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.


Aneuploidy Screening First trimester Second trimester Amniocentesis CVS 



We thank Ryan Colvin, Division of Clinical Research, Department of Obstetrics and Gynecology, Washington University School of Medicine, for his assistance with statistical analysis.

All procedures followed were in accordance with the clinical standards of the responsible committee on human experimentation and the Helsinki Declaration of 1975 as revised in 2000. This study was approved by the Washington University Human Research Protection Office, which waived informed consent.

Conflict of Interest

Jeffrey Dicke, Lindsey Van Duyne and Rachael Bradshaw declare that they have no conflict of interest.


  1. American College of Obstetricians and Gynecologists (ACOG). (2007). ACOG Practice Bulletin 77: Screening for fetal chromosome abnormalities. Obstetrics and Gynecology, 109, 217–227.CrossRefGoogle Scholar
  2. Ball, R. H., Caughey, A. B., Malone, F. D., Nyberg, D. A., Comstock, C. H., Saade, G. R., et al. (2007). First- and second-trimester evaluation of risk for down syndrome. Obstetrics and Gynecology, 110, 10–17.CrossRefGoogle Scholar
  3. Benn, P. A., Egan, J. F. X., Fang, M., & Smith-Bindman, R. (2004). Changes in the utilization of prenatal diagnosis. Obstetrics and Gynecology, 103, 1255–1260.CrossRefGoogle Scholar
  4. Edwards, A., Elwyn, G., Covey, J., et al. (2001). Presenting risk information—a review of the effects of “framing” and other manipulations on patient outcomes. Journal of Health Communication, 6, 61–82.CrossRefGoogle Scholar
  5. Garcia, E., Timmermans, D. R. M., & van Leeuwen, E. (2012). Parental duties and prenatal screening: does an offer of prenatal screening lead women to believe that they are morally compelled to test? Midwifery, 28, e837–e843.CrossRefGoogle Scholar
  6. Johnson, B. B. (2004). Risk comparisons, conflict, and risk acceptability claims. Risk Analysis, 24, 131–145.CrossRefGoogle Scholar
  7. Lipkus, I. M. (2007). Numeric, verbal, and visual formats of conveying health risks: suggested best practices and future recommendations. Medical Decision Making, 27, 696–713.CrossRefGoogle Scholar
  8. Marteau, T. M. (1999). Communicating genetic risk information. British Medical Bulletin, 55(2), 414–428.CrossRefGoogle Scholar
  9. O’Doherty, K., & Suthers, G. K. (2007). Risky communication: pitfalls in counseling about risk, and how to avoid them. Journal of General Counsel, 16, 409–417.CrossRefGoogle Scholar
  10. Paling, W. (2003). Strategies to help patients understand risks. BMJ, 327, 745–748.CrossRefGoogle Scholar
  11. Wray, A. M., Ghinini, A., Alvis, C., Hodor, J., Landy, H. G., & Poggis, H. (2005). The impact of first trimester screening on AMA patients’ uptake of invasive testing. Prenatal Diagnosis, 25, 350–353.CrossRefGoogle Scholar

Copyright information

© The Author(s) 2014

Open AccessThis article is distributed under the terms of the Creative Commons Attribution 2.0 International License (, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Authors and Affiliations

  • Jeffrey M. Dicke
    • 1
    Email author
  • Lindsey Van Duyne
    • 2
  • Rachael Bradshaw
    • 3
  1. 1.Department Obstetrics and GynecologyWashington University in St. Louis, School of MedicineSt. LouisUSA
  2. 2.Westminster CollegeFultonUSA
  3. 3.Department of PediatricsSaint Louis University School of MedicineSt. LouisUSA

Personalised recommendations