{Reference Type}: Case Reports
{Title}: Prenatal Diagnosis of Placental Mesenchymal Dysplasia with 46, X, Isochromosome Xq/45, X Mosaicism.
{Author}: Hsu CC;Lee CH;Chang SD;Ko TM;Ueng SH;Chen YH;Wang MC;Chang YL;Hsu CC;Lee CH;Chang SD;Ko TM;Ueng SH;Chen YH;Wang MC;Chang YL;
{Journal}: Genes (Basel)
{Volume}: 13
{Issue}: 2
{Year}: 01 2022 27
{Factor}: 4.141
{DOI}: 10.3390/genes13020245
{Abstract}: Placental mesenchymal dysplasia is an uncommon vascular anomaly of the placenta with characteristics of placentomegaly and multicystic appearance and with or without association with fetal chromosomal anomaly. We present a unique placental mesenchymal dysplasia patient with amniotic fluid karyotyping as 46, X, iso(X) (q10). Detailed molecular testing of the amniotic fluid, fetal cord blood, non-dysplastic placenta and dysplastic placenta was conducted after termination of pregnancy, from which we proved biparental/androgenetic (46, X, i(X) (q10)/45, X) mosaicism in different gestational tissues. A high portion of androgenetic cells in dysplastic placenta (74.2%) and near 100% of biparental cells in the fetus's blood and amniotic fluid were revealed. Delicate mosaic analyses were performed, and possible pathogenesis and embryogenesis of this case were drawn up.