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

Journal of Clinical Medicine

卷:3

Francesca Romana Grati¹ 

[1] 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;

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: DOAJ

【 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】

Unknown