The Utilization and Choices of Aneuploidy Screening in a Midwestern Population
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ORIGINAL RESEARCH
The Utilization and Choices of Aneuploidy Screening in a Midwestern Population Jeffrey M. Dicke & Lindsey Van Duyne & Rachael Bradshaw
Received: 18 December 2012 / Accepted: 7 March 2014 # The Author(s) 2014. This article is published with open access at Springerlink.com
Abstract 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 predetermined threshold, was associated with a low uptake of further testing.
J. M. Dicke (*) Department Obstetrics and Gynecology, Washington University in St. Louis, School of Medicine, 660 S. Euclid Avenue, Campus Box 8064, St. Louis, MO 63110-1094, USA e-mail: [email protected] L. Van Duyne Westminster College, Fulton, MO, USA R. Bradshaw Department of Pediatrics, Saint Louis University School of Medicine, St. Louis, MO, USA
Keywords Aneuploidy . Screening . First trimester . Second trimester . Amniocentesis . CVS
Introduction In January 2007, the American College of Obstetricians and Gynecologists (ACOG) Practice Bulletin Number 77 recommended “screening and invasive diagnostic testing should be available to all women who present for prenatal care before 20 weeks of gestation regardless of maternal age”. Several strategies for screening have been proposed based on the first trimester combined test (nuchal translucency (NT) measurement and biochemical markers) and second trimester maternal serum quadruple (Quad) screen. The highest detection rates and lowest screen positive rates have been reported for Integrated screening. This includes first trimester nuchal translucency, pregnancy-associated plasma protein A (PAPP-A) and human chorionic gonadotropin (hCG) plus maternal serum Quad screening in the mid-trimester, with the results provided only after all tests are completed. Patient anxiety during the delay between presentation for screening and results make this an un
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