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Chromosomal Mosaicism in Human Feto-Placental Development: Implications for Prenatal Diagnosis
Open accessAbstract
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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Cites
Chromosomal microarray versus karyotyping for prenatal diagnosis
Wapner, R. J., Martin, C. L., Levy, B., Ballif, B. C., Eng, C. M., Zachary, J. M., Savage, M., Platt, L. D., Saltzman, D., Grobman, W. A., et al. (2012) · New England Journal of Medicine · doi:10.1056/nejmoa1203382 · Cited by 1,412
Cited by
Benn, P., Borrell, A., Chiu, R. W. K., Cuckle, H., Dugoff, L., Faas, B., Gross, S., Huang, T., Johnson, J., Maymon, R., et al. (2015) · Prenatal Diagnosis · doi:10.1002/pd.4608 · Cited by 292
Bedei, I., Gehrke, T., Gloning, K., Meyer‐Wittkopf, M., Willner, D., Krapp, M., Scharf, A., Degenhardt, J., Heling, K., Kozlowski, P., et al. (2023) · Prenatal Diagnosis · doi:10.1002/pd.6320 · Cited by 7
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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- 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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Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.