P824: Use of cell-free DNA for prenatal diagnosis of single gene disorders: Experience of a single tertiary care center
Cell free DNA (cfDNA) offers an opportunity for prenatal genetic screening and diagnosis of single gene disorders, particularly when invasive testing options are not pursued. Despite its growing use, there is little guidance for how this technology should be utilized to screen or diagnose single gene disorders (SGD) in the fetus. As adoption of this technology increases, questions regarding indications, best practices, and diagnostic yield emerge. The purpose of this study is to describe indications for and diagnostic yield of cfDNA for the detection of SGD.
Authors
- Ginger Hocutt
- Amy T. Mottola
- Neeta L. Vora (ORCID: https://orcid.org/0000-0002-2504-9455)
- Asha N. Talati (ORCID: https://orcid.org/0000-0002-8590-5911)
- Andrea H Johnson (ORCID: https://orcid.org/0000-0001-6903-7731)
- Madeline Dyke (ORCID: https://orcid.org/0009-0008-6504-3278)
- Kelly L. Gilmore (ORCID: https://orcid.org/0000-0002-9125-8714)
- Emily Hardisty (ORCID: https://orcid.org/0000-0002-5825-9221)
- Rachel Veazey
Institutions
- University of North Carolina at Chapel Hill (US)
Publication Details
- Journal
- Genetics in Medicine Open
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.gimo.2025.103193
- Primary Topic
- Prenatal Screening and Diagnostics
- Type
- article
- Field-Weighted Citation Impact
- 0.00