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

被引：95
作者：
Grati, Francesca Romana [1 ]
机构：
[1] TOMA Adv Biomed Assays SPA, Res & Dev Cytogenet Mol Cytogenet & Mol Biol, 25-27 Francesco Ferrer Str, I-21052 Varese, Italy
来源：
JOURNAL OF CLINICAL MEDICINE | 2014年 / 3卷 / 03期
关键词：
chromosome mosaicism; chorionic villi; mesenchyme; cytotrophoblast; amniocentesis; uniparental disomy; confined placental mosaicism; true fetal mosaicism; non-invasive prenatal screening;
D O I：
10.3390/jcm3030809
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
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).
引用
收藏
页码：809 / 837
页数：29
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