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.

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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
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article

P824: Use of cell-free DNA for prenatal diagnosis of single gene disorders: Experience of a single tertiary care center

Ginger Hocutt, Amy T. Mottola, Neeta L. Vora, Asha N. Talati et al.
Genetics in Medicine Open
Prenatal Screening and Diagnostics
article

P824: Use of cell-free DNA for prenatal diagnosis of single gene disorders: Experience of a single tertiary care center

Ginger Hocutt, Amy T. Mottola, Neeta L. Vora, Asha N. Talati, Andrea H Johnson, Madeline Dyke, Kelly L. Gilmore, Emily Hardisty, Rachel Veazey
article en

Abstract

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.

Genetics in Medicine OpenVol. 3
University of North Carolina at Chapel Hill (US)
Openalex Percentile: Top 93%
Prenatal Screening and Diagnostics
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P824: Use of cell-free DNA for prenatal diagnosis of single gene disorders: Experience of a single tertiary care center — Ginger Hocutt, Amy T. Mottola, et al. · Genetics in Medicine Open (2025) | TGRS Research Map | TGRS