Author ORCID Identifier


Date of Graduation


Document Type

Thesis (MS)

Program Affiliation

Genetic Counseling

Degree Name

Masters of Science (MS)

Advisor/Committee Chair

Blair Stevens

Committee Member

Meagan Choates

Committee Member

Theresa Wittman

Committee Member

Suzanne Lopez

Committee Member

Eric Bergh

Committee Member

Han-Yang Chen


Approximately 3-5% of pregnancies are affected by fetal anomalies, often leading to structural and functional differences that impact infant health and mortality. When anomalies are identified on prenatal ultrasound, genetic counseling (GC) and genetic testing may be offered to investigate the potential for a possible syndromic cause. Genetic counselors provide education on the chance for a genetic etiology, available testing options, potential changes in medical intervention related to an identified etiology, and psychosocial counseling and resources. Regardless of a patient’s testing decision, genetic counseling should include psychosocial counseling to support and empower patients in a time of prognostic uncertainty and psychological burden. Genetic counselors are often utilized in MFM practice, however the direct impact of prenatal genetic counseling on patient empowerment remains unexamined in literature. Patient empowerment has been shown to improve patient health outcomes through increased compliance and satisfaction. The Genetic Counseling Outcome Scale (GCOS-24) is a validated, patient-reported outcome measure (PROM) that assesses empowerment in clinical genetic services. Study participants referred to a fetal care center for fetal anomalies completed a GCOS-24 survey immediately before and after their genetic counseling appointment with a certified genetic counselor. A third GCOS-24 survey was sent 3 weeks after the patient’s initial appointment if testing was declined, or after results disclosure of genetic testing to preliminary assess the impact of diagnostic testing on empowerment. 51 participants completed the pre- and post-GC surveys (surveys 1 & 2), and 32 completed the third survey. The mean empowerment score was 120.6 points before genetic counseling, and 130.6 points after genetic counseling, with a mean difference of 10.1 points (p < 0.001). Items from the behavioral control and emotional regulation dimensions showed the most significant increase in the empowerment scores. There was no significant difference in empowerment scores among subgroups of patients’ demographics and medical histories. Our finding demonstrated a significant increase in empowerment scores due to prenatal genetic counseling, emphasizing the value of prenatal counseling regardless of patients’ testing decision.


prenatal, genetic counseling, empowerment, psychosocial, fetal anomalies, testing decision, outcome scale, empowerment scores, fetal care, prenatal research

Available for download on Saturday, April 26, 2025