Date of Award


Document Type

Thesis - Open Access

Degree Name

MS Human Genetics


Human Genetics Graduate Program


The use of non-invasive prenatal testing (NIPT) for aneuploidy screening has increased dramatically in the last five years due to its high sensitivity and specificity. However, testing cell free fetal DNA (cffDNA) opens the door to maternal incidental findings. This study aims to assess genetic counselors’ preparedness to respond to such incidental findings by surveying prenatal genetic counselors about their experiences with these cases. Surprisingly, 62% of the prenatal genetic counselors (89/143) in this study have encountered incidental findings in their practice, and many shared accounts of unique cases. In addition, participants were asked to respond to three hypothetical scenarios: an incidental finding of maternal mosaicism for Turner syndrome (45, XO) for which 83% of respondents felt “very prepared” to manage; an incidental finding of a maternal microdeletion, for which 72% of respondents felt “very prepared”; and an incidental finding of maternal malignancy, for which only 48% of respondents felt “very prepared” to handle. There was a statistically significant difference between the first two scenarios and the third, with participants feeling least prepared to manage an incidental finding of maternal malignancy. Participants were also surveyed about their interactions with testing labs, with 34% of respondents stating they had received results informally from the lab, and of those, 70% relayed those results to patients. Overall, genetic counselors felt prepared to counsel patients on incidental findings of maternal mosaicism and maternal microdeletions, yet unprepared to counsel patients on an incidental finding suggestive of maternal malignancy.

Included in

Genetics Commons