Presentation Title: “Couples’ Decision-Making About Expanded Prenatal Cell-Free DNA Screening”

Abstract:

Background It will soon be possible to sequence the entire fetal genome through the expansion of prenatal cell-free DNA (cfDNA) screening technology. Previous research focused on pregnant persons’ views on this technology as it is currently being used but has not investigated which expanded categories of prenatal genetic information pregnant persons or their romantic partners would be interested in seeking or the degree of concordance between them on screening decisions. Given that partners want to be involved in decision-making and that their involvement is highly valued by pregnant persons, our project assessed the preferences of and concordance between pregnant persons and their partners on expanded prenatal cfDNA screening. Methods A survey was administered to 247 U.S. adult pregnant couples. The pregnant persons and their partners were independently asked about their desire to seek prenatal cfDNA screening for conditions that varied by severity, treatability, age of onset, and reliability of the screen. Additional questions explored how they would make decisions with their partner and how various factors would impact those decisions. Logistic regression models were used to determine how much vignette variables and demographic factors modeled the probability of a respondent’s willingness to seek each genetic screen and the probability of partners within couples agreeing on seeking screening. Cohen’s kappa values (k) were also calculated to determine the degree of concordance between partners on seeking screening. Results Respondents were most likely to seek more predictive screening for earlier-onset, treatable conditions of higher severity (p=0.0116, p=0.0310, p=0.0032, p<0.0001). 45% of pregnant persons and partners reported that the inability to terminate a pregnancy in their state would make them more likely to screen, and these respondents were subsequently among the most likely to seek screening in the study (95.61% vs. 73.63%, p<0.0001). Couples agreed on screening decisions for 88% of vignettes and were most likely to agree on seeking guidance from a doctor or genetic counsellor (k=0.442) and on using the genetic information to inform decisions on whether to terminate the pregnancy (k=0.426). Conclusion Our findings suggest that it might be prudent for providers to elucidate patient views on abortion when discussing which screens to pursue, and that relevant professional societies should develop recommendations and resources to guide patients through this decision-making process. It also challenges the current paradigm of non-directiveness in genetic counselling and suggests that couples desire firmer guidance in the face of so many testing options.