P867: A cautionary tale of fetoplacental discrepancies: The impact of mosaicism in prenatal diagnosis
Both cases feature non-mosaic abnormalities in the fetus, likely due to postzygotic errors occurring early in development, and a mix of normal and abnormal cell lines in the placenta. This contrasts with more common scenarios where a rescue mechanism restores diploidy in the lineage that gives rise to the fetus, resulting in the confinement of abnormal cells to the placenta and a normal fetal outcome. These cases highlight the complexity of prenatal diagnosis and the challenges of interpreting discrepant results in the presence of mosaicism.
Authors
- Vanessa Di Gioacchino
- Nicholas A. Watkins
- Abdul Noor (ORCID: https://orcid.org/0000-0002-4892-5876)
- Elena Greenfeld (ORCID: https://orcid.org/0009-0004-4489-2095)
- Nina Anggala (ORCID: https://orcid.org/0009-0000-5761-2524)
Institutions
- Mount Sinai Hospital (CA)
- Lunenfeld-Tanenbaum Research Institute (CA)
- Mount Sinai Hospital (US)
Publication Details
- Journal
- Genetics in Medicine Open
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.gimo.2025.103236
- Primary Topic
- Prenatal Screening and Diagnostics
- Type
- article
- Field-Weighted Citation Impact
- 0.00