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Cited by 164

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Chromosomal Mosaicism in Human Feto-Placental Development: Implications for Prenatal Diagnosis

Open access
Grati, Francesca·2014·Journal of Clinical Medicine

Abstract

Chromosomal mosaicism is one of the primary interpretative issues in prenatal diagnosis. In this review, the mechanisms underlying feto-placental chromosomal mosaicism are presented. Based on the substantial retrospective diagnostic experience with chorionic villi samples (CVS) of a prenatal diagnosis laboratory the following items are discussed: (i) The frequency of the different types of mosaicism (confined placental, CPM, and true fetal mosaicisms, TFM); (ii) The risk of fetal confirmation after the detection of a mosaic in CVS stratified by chromosome abnormality and placental tissue involvement; (iii) The frequency of uniparental disomy for imprinted chromosomes associated with CPM; (iv) The incidence of false-positive and false-negative results in CVS samples analyzed by only (semi-)direct preparation or long term culture; and (v) The implications of the presence of a feto-placental mosaicism for microarray analysis of CVS and non-invasive prenatal screening (NIPS).

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Metadata

Authors
Grati, F.
Venue
Journal of Clinical Medicine
Publisher
MDPI AG
Published
2014-07-24
Volume
3
Issue
3
Pages
809-837
ISSN
2077-0383 (ISSN-L)
OpenAlex
W2026015523
Cited by
164
References
1
FWCI
6.66
Type
journal article
Language
en
Open access
gold

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CoChat. (2026). Citation check: Chromosomal Mosaicism in Human Feto-Placental Development: Implications for Prenatal Diagnosis. https://app.cochat.ai/papers/10.3390/jcm3030809
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Grati, F. (2014). Chromosomal Mosaicism in Human Feto-Placental Development: Implications for Prenatal Diagnosis. Journal of Clinical Medicine. https://doi.org/10.3390/jcm3030809

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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).

Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.