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J. Clin. Med. 2014, 3(3), 809-837; doi:10.3390/jcm3030809

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

Research & Development, Cytogenetics, Molecular Cytogenetics and Molecular Biology, TOMA Advanced Biomedical Assays S.P.A., 25/27 Francesco Ferrer Str., Busto Arsizio 21052, Varese, Italy
Received: 4 May 2014 / Revised: 19 June 2014 / Accepted: 27 June 2014 / Published: 24 July 2014
(This article belongs to the Special Issue Prenatal Genetic Screening and Diagnosis-Part 2)
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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). View Full-Text
Keywords: chromosome mosaicism; chorionic villi; mesenchyme; cytotrophoblast; amniocentesis; uniparental disomy; confined placental mosaicism; true fetal mosaicism; non-invasive prenatal screening chromosome mosaicism; chorionic villi; mesenchyme; cytotrophoblast; amniocentesis; uniparental disomy; confined placental mosaicism; true fetal mosaicism; non-invasive prenatal screening
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Grati, F.R. Chromosomal Mosaicism in Human Feto-Placental Development: Implications for Prenatal Diagnosis. J. Clin. Med. 2014, 3, 809-837.

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