NEW TECHNOLOGY, NEW CHALLENGES: BARRIERS TO INFORMED DECISION-MAKING FOR FIRST TRIMESTER ANEUPLOIDY SCREENING

Purpose:  First trimester aneuploidy screening is a new test developed to identify risk for fetal aneuploidy several weeks earlier than conventional second trimester modalities. This study investigated key aspects of the decision-making process for this new form of prenatal genetic screening for the purpose of identifying barriers to informed decision-making and improving informed consent. 

Method: Pregnant patients (N=93) were recruited from outpatient OB/GYN clinics in Northeastern Ohio. Participants completed a self-administered, multiple-choice questionnaire assessing knowledge and decision-making factors for first trimester aneuploidy screening, demographics, gestational age, and reproductive history. Data analysis was performed using R 2.9.1. 

Result:  Participants demonstrated a low baseline understanding of the key concepts associated with first trimester aneuploidy screening. Specific knowledge gaps pertained to Down syndrome with 40% of participants unfamiliar with intellectual disabilities and 64% unfamiliar with health issues associated with Down syndrome. Participants were unfamiliar with the indications for first trimester aneuploidy screening, with 42% unable to correctly identify current recommendations for universal screening of all pregnant women regardless of maternal age and 62.3% unfamiliar or uncertain about testing procedures. Only 31.9% were able to correctly identify personal risk from the screening test result in contrast to 60.7% who were incorrect or uncertain about interpretation of an abnormal test result. Participants demonstrated knowledge gaps about follow-up testing for an abnormal result, with only 35.1% aware of the role of second trimester sequential or integrated protocols. In terms of immediate follow-up diagnostic testing, 67.8% were familiar with CVS but only 29.4% demonstrated understanding of its procedure-related risks. In the ranking of decision making factors, participants prioritized issues related to the decisional consequences of engaging with first trimester aneuploidy screening, specifically their plan of action based on abnormal test result, the risks of fetal injury from follow-up diagnostic testing, and advanced consideration of pregnancy termination prior to testing.

Conclusion:  While first trimester aneuploidy screening provides fetal genetic information at an earlier time in the pregnancy, it also introduces novel challenges for informed decision-making. Our data demonstrate significant challenges for the process of patient education and informed consent for this new test. These findings have important implications for informed decision making in reproductive medicine, particularly in light of the rapid pace of clinic translation of new prenatal genetic testing options.