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

Claire Singletary

Committee Member

Han-Yang Chen

Committee Member

Meagan Choates

Committee Member

Anthony Johnson


Prenatal genetic diagnostic and screening tests have been rapidly evolving over the past decade with the introduction and expansion of cell free DNA screening (cfDNA) and the use of chromosomal microarray (CMA) as a first-line test for evaluation of fetal anomalies. Understanding patient motivations for or against expanded genetic testing options is paramount, therefore this study aimed to ascertain the patient perspective. Ninety-nine patients with an ultrasound anomaly participated in an anonymous, cross-sectional, research survey assessing coping strategies, factors influencing the genetic testing decision, and demographic variables. After multivariable analysis, the desire for directive counseling regarding testing was correlated with increased uptake of diagnostic tests (RR 1.52, 95% CI 1.02-2.27). Conversely, higher perceived procedure-related risk reduced uptake of diagnostic testing (RR 0.24, 95% CI 0.10-0.56). Mitigating the risk of genetic testing through expanded cfDNA options will likely further shift how patients evaluate genetic testing decisions in the future. Simultaneously, this raises concerns about the potential for routinization of genetic screening which can hinder informed consent and personalized care. The majority of patients (95%) had some form of genetic testing, despite over 20% not expressing desire for prenatal knowledge of a genetic condition, and 36% not feeling it would impact the medical management of the pregnancy. Mistrust of the medical team was significantly correlated with screening and diagnostic decisions, but the relative degree of effect could not be ascertained. More individuals with high school education or less (23% versus 5% with at least some college education) stated that they would not want the prenatal team to know if there was a genetic condition, whereas race/ethnicity was not significant. Therefore, it appeared that mistrust tracked in our cohort with lower educational attainment rather than race/ethnicity. This study shows that even with new testing options, the procedure-related risk of diagnostic testing remains a powerful influence on the uptake of genetic testing. Mitigating the perceived risk of genetic testing will likely increase the complexity of the decision-making process for patients and the need for clinicians to provide patient-centered counseling to facilitate these decisions.


Genetic Counseling, Prenatal, Genetic Testing, Testing Uptake, Medical Decision Making, Risk Perception, Fetal Ultrasound



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