Il laboratorio TOMA pubblica una review sulla casistica parziale dei mosaici riscontrati su villo coriale in un casistica di più di 52000 diagnosi prenatali consecutive del primo trimestre. Esso si concentra sulla discussione circa la probabilità di conferma nel feto di tutte le tipologie di mosaico riscontrate all’analisi su villo coriale e le implicazioni che queste condizioni fisiologiche posso avere sui nuovi screening non invasivi su DNA circolante nel sangue materno. Il lavoro è stato pubblicato su una rivista Open Access Journal of Clinical Medicine e liberamente scaricabile al link http://www.mdpi.com/2077-0383/3/3/809#supplementary
J. Clin. Med. 2014, 3(3), 809-837; doi:10.3390/jcm3030809
Review
Chromosomal Mosaicism in Human Feto-Placental Development: Implications for Prenatal Diagnosis
Francesca Romana Grati
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).