Expert Knowledge Influences Decision-Making for Couples Receiving Positive Prenatal Chromosomal Microarray Testing Results

Objective: Prenatal genetic testing is an important and evolving public health tool. The objective of this project is to assess the role of expert knowledge in decision-making about positive prenatal chromosomal microarray test results, which include variants of uncertain clinical significance (VOUS) and copy number variants (CNV) associated with syndromes of variable severity and age of onset.

Methods: 27 US pregnant women and 12 of their male partners, who received positive prenatal microarray testing results completed semi-structured phone interviews regarding their test experiences, understanding of and emotional response to results, factors affecting decision-making, and needs throughout the testing process.

Results: Decision-making is shaped by biomedical expert knowledge (BEK) and cultural expert knowledge (CEK). When there is a dearth of BEK from providers and other biomedically validated sources, as in the case of a VOUS, participants are informed by CEK, including religious/spiritual beliefs, "gut instinct," and analogic reasoning. While women tend to be primary information-seekers and disseminators of BEK to their partners, both sexes contributed to the production of CEK for prenatal decision-making. 

Conclusions: Different types of expert knowledge influence prenatal decision-making after receiving positive results. These findings suggest that CEK is a powerful platform to guide and validate prenatal decisions made by participants. The utility of drawing from culturally situated expert knowledge associated with testing uncertainty emphasizes that decision-making occurs within discourses beyond the biomedical domain. These alternate forms of "knowing" may be integrated into clinical consideration for efficacious assessment and counseling of patients receiving positive prenatal genetic testing results.