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.

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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
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article

P867: A cautionary tale of fetoplacental discrepancies: The impact of mosaicism in prenatal diagnosis

Vanessa Di Gioacchino, Nicholas A. Watkins, Abdul Noor, Elena Greenfeld et al.
Genetics in Medicine Open
Prenatal Screening and Diagnostics
article

P867: A cautionary tale of fetoplacental discrepancies: The impact of mosaicism in prenatal diagnosis

Vanessa Di Gioacchino, Nicholas A. Watkins, Abdul Noor, Elena Greenfeld, Nina Anggala
article en

Abstract

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.

Genetics in Medicine OpenVol. 3
Mount Sinai Hospital (CA), Lunenfeld-Tanenbaum Research Institute (CA), Mount Sinai Hospital (US)
Gender equality
Openalex Percentile: Top 93%
Prenatal Screening and Diagnostics
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