Author ORCID Identifier


Date of Graduation


Document Type

Thesis (MS)

Program Affiliation

Genetic Counseling

Degree Name

Masters of Science (MS)

Advisor/Committee Chair

Meagan Choates, MS, CGC

Committee Member

Shannon Mulligan, MS, CGC, MB(ASCP)CM

Committee Member

Eleazar Soto, M.D.

Committee Member

Natalie Stoner, MS, LGC

Committee Member

Gina Sanchez, MS, CGC, MB(ASCP)CM


Soft signs are nonstructural fetal anomalies that can be identified by the second-trimester comprehensive ultrasound examination. In isolation, soft signs are insufficient to diagnose chromosome conditions but can adjust an individual's risk for aneuploidy, primarily Down syndrome. In the age of noninvasive cell-free DNA (cfDNA) prenatal screening, which exhibits superior sensitivity and specificity for aneuploidy compared to what can be provided by soft sign risk adjustment, the utility of these soft signs is arguably waning. Thus, this study aimed to establish patient preferences for whether and how soft signs are disclosed in pregnancy to inform recommendations for disclosure. A survey was presented to eligible individuals in UTHealth clinics and via online Reddit discussion forums. A total of 210 fully completed responses were collected and used for data analysis. A majority of participants (75%) expressed definite desire for soft sign disclosure. No significant shifts in desire were observed when participants were informed of the lack of follow-up recommendations for antenatal or postnatal follow-up (p= 0.248), nor when offered the option of additional testing (p= 0.135), suggesting that patient autonomy and medical transparency supersedes actionability. These themes were also reported by patients as their motivation for disclosure, particularly among those who expressed a very high level of concern for having a child with a genetic condition; those with a high concern additionally desired more information about the finding than those with neutral concern (p= 0.021). Over half of the participants desired disclosure via the maternal-fetal medicine physician (MFM) in person (53%), though many found a telephone disclosure acceptable (63%). Resources such as follow-up calls or fact sheets were also commonly desired (66-69%). Of note, patient education level was significantly associated with elements related to soft sign disclosure; participants with lower education levels had lower numeracy (p< 0.001) and lower prior awareness of the potential for ultrasound to identify soft signs (p< 0.001). Ultimately, patients desire continued reporting of soft sign identification regardless of recommendations for (or lack thereof of) changes to antenatal management. Anticipatory education about the scope of the anatomy examination, tailoring during disclosure to account for varying numeracy, and post-disclosure resources would be of particular benefit.


genetic, genetic counseling, ultrasound, soft signs, ultrasound soft signs, soft markers, aneuploidy, chromosomal, Down syndrome

Available for download on Saturday, April 04, 2026