Cell‐Free DNA Results Indicating Mosaic Monosomy X of Likely Maternal Origin: Impact on Genetic Counseling Practices and Patient Experiences
The majority of genetic counselors report feeling confident in counseling these results, but their current practices vary. Patients who receive these results are found to have a difficult time adapting due to feeling surprised and confused. Based on these findings, we believe professional practice guidelines are needed to establish clear management recommendations, which in turn would hopefully decrease patient and provider stress.
Authors
- Siddharth K. Prakash (ORCID: https://orcid.org/0000-0001-6341-9624)
- Aaron W. Roberts (ORCID: https://orcid.org/0000-0002-6239-8427)
- Ashley Cannon (ORCID: https://orcid.org/0000-0002-2319-208X)
- Amanda McBride (ORCID: https://orcid.org/0009-0003-1980-9416)
- Laura G. Hendon (ORCID: https://orcid.org/0000-0003-0645-1315)
- Angela R. Seasely
- Anna Hurst (ORCID: https://orcid.org/0000-0002-9765-9703)
Institutions
- Surdna Foundation (US)
- University of Mississippi Medical Center (US)
- University of Alabama at Birmingham (US)
- The University of Texas Health Science Center (US)
- The University of Texas Health Science Center at Houston (US)
Publication Details
- Journal
- Prenatal Diagnosis
- Published
- 2025-02-15
- DOI
- https://doi.org/10.1002/pd.6760
- Primary Topic
- Prenatal Screening and Diagnostics
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Society of Genetic Counselors