Journal of Clinical Medicine | |
Chromosomal Mosaicism in Human Feto-Placental Development: Implications for Prenatal Diagnosis | |
关键词: chromosome mosaicism; chorionic villi; mesenchyme; cytotrophoblast; amniocentesis; uniparental disomy; confined placental mosaicism; true fetal mosaicism; non-invasive prenatal screening; | |
DOI : 10.3390/jcm3030809 | |
来源: mdpi | |
【 摘 要 】
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).
【 授权许可】
CC BY
© 2014 by the authors; licensee MDPI, Basel, Switzerland.
【 预 览 】
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RO202003190023576ZK.pdf | 1853KB | download |