P709: Comparison of prenatal cell-free DNA screen positive for monosomy X with diagnostic maternal and fetal cytogenetic studies: A single-center study
Prenatal cell-free DNA screening has been clinically available since 2011 to screen for the common fetal aneuploidies, including trisomy 13, 18, 21, and sex chromosome abnormalities. It has become the preferred modality for aneuploidy screening in pregnancy supported by recommendations from ACOG and ACMG. However, prenatal cell-free DNA testing is not equivalent to diagnostic testing. False positive and false negative results from prenatal cfDNA screening are caused by a variety of biologic mechanisms, including confined placental mosaicism, a vanishing twin, and maternal factors.
Authors
- Whitney Neufeld‐Kaiser
- Madhuchhanda Das (ORCID: https://orcid.org/0009-0004-3024-4118)
- Sandy Coe
- Christina M. Lockwood (ORCID: https://orcid.org/0000-0001-9036-7604)
- Candace T. Myers (ORCID: https://orcid.org/0000-0002-7047-2754)
- Christine M. Distèche (ORCID: https://orcid.org/0000-0002-5433-495X)
- Erin Oehler
- Kwang‐Ting Cheng (ORCID: https://orcid.org/0000-0002-3885-4912)
- Jillian G. Buchan (ORCID: https://orcid.org/0000-0001-9274-6173)
- Yajuan Liu (ORCID: https://orcid.org/0000-0003-1799-0760)
- Teodora Kolarova (ORCID: https://orcid.org/0000-0001-8093-0774)
- Virginia P. Sybert
Institutions
- University of Washington (US)
- University of Washington Medical Center (US)
Publication Details
- Journal
- Genetics in Medicine Open
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.gimo.2025.103078
- Primary Topic
- Prenatal Screening and Diagnostics
- Type
- article
- Field-Weighted Citation Impact
- 0.00