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- Title
Prenatal Diagnosis of Placental Mesenchymal Dysplasia with 46, X, Isochromosome Xq/45, X Mosaicism.
- Authors
Hsu, Chin-Chieh; Lee, Chien-Hong; Chang, Shuenn-Dyh; Ko, Tsang-Ming; Ueng, Shir-Hwa; Chen, Yu-Hsiu; Wang, Mei-Chia; Chang, Yao-Lung
- 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.
- Subjects
PLACENTA; AMNIOTIC liquid; DYSPLASIA; PRENATAL diagnosis; MOSAICISM; ABORTION; FETUS
- Publication
Genes, 2022, Vol 13, Issue 2, p245
- ISSN
2073-4425
- Publication type
Article
- DOI
10.3390/genes13020245