What knowledge is required for an informed choice related to non-invasive prenatal screening?

Non-invasive prenatal screening (NIPS) using cell-free DNA is a screening test for fetal aneuploidy offered by a variety of prenatal healthcare providers. Guidelines for genetic screening consistently recommend that providers facilitate informed choices, which have been associated with better psychological and clinical outcomes than uninformed choices. The multidimensional measure of informed choice (MMIC) is a widely used and theory-based measure that combines knowledge, values, and behavior to classify decisions as either informed or uniformed. We implemented a previously validated version of the MMIC for women offered NIPS to describe the choices made by women receiving prenatal care at the Vanderbilt University Medical Center. The survey included the Ottawa Decisional Conflict scale, an outcome measure used for validation of choice categorization. We found that most women (87%) made an informed choice about NIPS. Of the women categorized as uninformed, 67% had insufficient knowledge, and 33% had an attitude discordant with their decision. The vast majority of respondents (92.5%) underwent NIPS and had a positive attitude toward screening (94.3%). Ethnicity (p = 0.04) and education (p = 0.01) were found to be significantly associated with informed choice. Decisional conflict was extremely low among all participants, with only 5.6% of all participants demonstrating any form of decisional conflict, and all being categorized as having made an informed choice. This study suggests that pre-test counseling by a genetic counselor results in high rates of informed choice and low-decisional conflict amongst women offered NIPS by genetic counselors, though more research is required to determine if rates of informed choice remain high when NIPS is offered by other prenatal providers.