KATHERINE DELAP
Capstone Project Committee: Rachel Mills, M.S., CGC; Asha Talati, M.D.; Kelly Gilmore, M.S., CGC
Pregnancies with fetal anomalies detected by ultrasound are at increased risk for genetic disorders. Standard prenatal diagnostic testing, defined as genetic testing on fetal samples obtained by chorionic villus sampling (CVS) or amniocentesis, can be utilized to identify a genetic diagnosis, narrow the differential in the setting of fetal anomalies, counsel regarding pregnancy prognosis, and provide multidisciplinary care to mother and fetus. Existing research on maternal uptake of prenatal screening and diagnosis has identified factors that impact maternal decision-making but lacks the perspectives of pregnant individuals making decisions about diagnostic testing when fetal anomalies are present. As such, the objective of this study is to identify factors that influence decision-making regarding genetic diagnosis among this specific, high-risk population. This is a qualitative study of pregnant persons offered amniocentesis at a single maternal-fetal medicine site in North Carolina for prenatal diagnosis after genetic counseling for an ultrasound-diagnosed fetal anomaly. Participants completed a demographics survey and subsequent in-depth semi-structured interview that was analyzed using grounded theory methods with a constructivist epistemology. Five individuals participated in the study. Three had elected for diagnostic testing and two had declined testing. Themes identified in the interviews included 1) views of termination, 2) perceptions of disability, 3) religiosity, 4) perception of prognosis, 5) risk-benefit analysis, 6) information-seeking, 7) support system, and 8) overwhelming emotional experiences. Differences within the first six themes correlated with differences in the decision to proceed with or decline diagnostic testing. These relationships indicate that participants rely on their pre-existing perspectives and life experiences in decision-making. Many participants relied on their medical care team as a source of support. All described the experience of having a pregnancy with an ultrasound anomaly and the associated discussions and decisions as emotionally overwhelming. These results expand our understanding of uptake of prenatal diagnostic testing by providing insight into the decision-making process in the setting of fetal anomalies. This insight may be utilized by genetic counselors and other members of the prenatal care team to facilitate increasingly informed and appropriate decision-making.