Chromosomal Mosaicism in Human Feto-Placental Development: Implications for Prenatal DiagnosisReport as inadecuate




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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





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





Author: Francesca Romana Grati

Source: http://mdpi.com/



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