The Utilization and Choices of Aneuploidy Screening in a Midwestern Population

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 pre-determined threshold, was associated with a low uptake of further testing.

Perspectives on returning individual and aggregate genomic research results to study participants and communities in Kenya: a qualitative study

“…This finding is consistent with prior studies where respondents recommended the researchers provide context for the results they provide [ 70 , 71 ]. This requires skillful communication and improved language reduces potential misunderstandings between the result conveyor and the study participant [ 72 – 74 ]. Researchers should frequently use a genetic counsellor or a trained professional to communicate test results effectively and accurately [ 3 , 75 , 76 ].…”

Returning negative results to individuals in a genomic screening program: lessons learned

“…Despite these concerns, skillful risk communication and improved language use may reduce potential misunderstandings, 23 – 26 and increase the proportion of individuals able to recognize the limits of a negative-results report. Haga and colleagues (2014) cite a CDC recommendation for reports to state “no mutation detected” rather than “normal,” arguing that patients may interpret “normal” as a true negative result when in fact it may largely but not completely rule out mutations in one of many possible genes for a genetically heterogeneous disease.…”

Decision-making factors in prenatal testing: A systematic review

“…Higher educational attainment is associated with a greater use of both invasive and non-invasive prenatal testing ( Bangsgaard and Tabor, 2013 ; Beulen et al, 2015 ; Canh Chuong et al, 2018 ; Dicke et al, 2014 ; Farrell et al, 2014 ; Gil et al, 2015 ). In addition, the studies by Chan et al (2014) and by Cheng et al (2018) indicate that a low level of education is associated with the choice of invasive prenatal diagnosis rather than NIPT.…”

“…Data regarding the association between ethnicity and the use of prenatal testing are scarce and heterogeneous. In particular, some studies report that non-Caucasian women seem to underestimate the importance of a false positive result in their choice ( Farrell et al, 2011 ) and they use NIPT more frequently ( Lewis et al, 2014 ); others show that being non-Caucasian is associated with a negative attitude toward both invasive and non-invasive prenatal tests ( Dicke et al, 2014 ; Gil et al, 2015 ).…”

“…From a socio-demographic and clinical-obstetric point of view, studies with different quality levels unanimously indicate that advanced maternal age (Beulen et al, 2015;Gil et al, 2015;Grinshpun-Cohen et al, 2015a, 2015bSchoonen et al, 2012;Ternby et al, 2015;Watanabe et al, 2017), having a risk for genetic anomalies and previous abortions induce women to undergo prenatal testing, without distinction between invasive or non-invasive test (Chan et al, 2014;Seven et al, 2017;Skutilova, 2015). Similarly, no differences emerge in the use of both invasive and noninvasive prenatal testing in relation to educational level, in particular a higher educational attainment is associated with a greater use of prenatal test in general (Bangsgaard and Tabor, 2013;Beulen et al, 2015;Canh Chuong et al, 2018;Dicke et al, 2014;Farrell et al, 2014;Gil et al, 2015). Only a study with poor methodological quality (Crombag et al, 2016) reports that women with a high level of education are more likely to decline cFTS.…”