Author ORCID Identifier


Date of Graduation


Document Type

Thesis (MS)

Program Affiliation

Genetic Counseling

Degree Name

Masters of Science (MS)

Advisor/Committee Chair

Victoria F. Wagner, MS, CGC

Committee Member

S. Shahrukh Hashmi, MD, MPH, PhD

Committee Member

David F. Rodriguez-Buritica, MD

Committee Member

Laura S. Farach, MD

Committee Member

Aarti Ramdaney, MS, CGC


As the use of non-invasive prenatal testing becomes more ubiquitous during pregnancy, genetic counselors (GCs) will see clients more frequently for discordant sex identification via non-invasive prenatal testing (NIPT-DSI). Thus, it is imperative to investigate what GCs consider important when counseling about NIPT-DSI and assess how GCs perceive their role in such cases. Prenatal and pediatric GCs were surveyed regarding previous experiences of NIPT-DSI, comfort levels of topics relating to NIPT-DSI, and perceived importance of potential discussion topics in a counseling session (n = 108). The survey consisted of two vignettes, presenting cases of NIPT-DSI identified prenatally in one scenario and postnatally in the other scenario. Sixty-nine percent of GCs surveyed reported past experiences with NIPT-DSI (n = 75), with 74% of GCs that see prenatal patients (n = 64) and 45% of GCs that work in pediatrics (n = 22) reporting such experiences. GCs generally expressed comfort regarding the discussion of differential diagnosis, discordant NIPT results, sharing information with others, and recurrence risk, but discomfort regarding the discussion of genital surgeries. GCs ranked discussion of differential diagnosis, testing options, and parental support as the most important topics for an initial NIPT-DSI genetic counseling session. Additionally, while most participants indicated that they would offer genetic testing and referrals to other specialties in the hypothetical scenarios, there was little agreement between counselors of which testing and referral options to include. Overall, these results indicate GCs do encounter NIPT-DSI cases in their clinical practice, GCs may feel uncomfortable discussing certain topics that may arise in a session, such as genital surgeries, and there are inconsistencies in the way that GCs would approach similar cases of NIPT-DSI. Therefore, targeted education for GCs regarding NIPT-DSI and related topics, as well as practice guidelines specific to GCs for cases of NIPT-DSI may help ensure that patients with similar indications are receiving the same quality of care.


prenatal diagnosis, genetic testing, counseling attitudes, secondary findings



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