Abstract

First trimester aneuploidy screening introduces unique challenges to patient education and informed decision-making. Our study assessed the decision-making process among those pregnant patients presenting for this new form of aneuploidy screening. A survey instrument was used to assess components of decision-making among women who presented for first trimester aneuploidy screening. Knowledge and leading factors in the decision-making process were measured. Participants (n = 139) demonstrated understanding of the etiology of Down syndrome, but less understanding of its cognitive (65.2%) and physical manifestations (58.7%). Few were able to determine risk from first trimester screen results (36.7%). Participants were more familiar with amniocentesis (84.2%) than chorionic villus sampling (73.4%), though less familiar with procedural risks (29.5% and 28.1%, respectively). The majority of participants ranked the following as key information in their decision: knowledge of their intentions about the outcome of the pregnancy based on the test results (92.4%), knowledge of chorionic villus sampling to evaluate an abnormal result (92.0%), and values and beliefs about termination (89.1%). First trimester aneuploidy screening generates education and decision-making benchmarks for patients and providers. It is important to address these barriers as this new screen becomes a growing part of current prenatal genetic testing offerings.

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