Date of Award

Spring 2026

Document Type

Open Access Thesis

Department

Genetic Counseling

First Advisor

Jessica Fairey

Abstract

Single nucleotide polymorphism (SNP)-based cell-free DNA (cfDNA) prenatal screening can yield uninformative results, including “atypical finding” and low fetal fraction results which can present challenges for clinical management. Limited data exists regarding the underlying causes, pregnancy outcomes, and patient experiences associated with these results. The purpose of this study was to explore the different potential underlying causes of these uninformative results while also exploring the pregnancy outcomes and the perspectives of patients who have received one. A mixed methods study was conducted consisting of a retrospective chart review on patients who had a documented appointment with a genetic counselor for an uninformative SNP-based cfDNA result. Demographic information, follow-up testing, diagnostic results, ultrasound findings, and pregnancy outcomes were collected. Patients without documented pregnancy outcomes were contacted for an optional phone interview regarding their outcome and their experience with receiving this type of result. Thirty-seven charts were reviewed for this study. Sixteen patients had received an “atypical finding” while 21 patients received a low fetal fraction result. Maternal diagnostic testing resulted in four maternal diagnoses, three of which were trisomy X. Fetal diagnostic testing identified a fetus with trisomy X and one that was mosaic for trisomy 21. Overall, most pregnancies in both groups resulted in viable livebirths; however, diagnostic testing was not performed in all cases, and outcomes included confirmed chromosomal abnormalities as well as normal or unknown outcomes. One patient participated in a phone interview and described significant initial distress, followed by reassurance after genetic counseling. Despite a small and selective cohort with limited qualitative data, these findings provide preliminary insight into the causes and outcomes of uninformative SNP-based cfDNA results. Larger studies are needed to clarify etiologies and inform evidence-based counseling and management strategies.

Rights

© 2026, Teeya Mercer

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