Unexpected finding of uniparental disomy mosaicism in term placentas: Is it a common feature in trisomic placentas?

Diane Van OpstalKarin E M DiderichMarieke JoostenLutgarde C P GovaertsJoke PolakMarjan BoterJasper J SarisWai Yee CheungStefanie van VeenRobert van de HelmAttie T J I GoMaarten F C M KnapenDimitri N M PapatsonisAnneke DijkmanFemke de VriesRobert-Jan H GaljaardLies H HoefslootMalgorzata Ilona Srebniak

Published in: Prenatal diagnosis (2018)

The presence of trisomy/UPD/BPD mosaicism in 3/10 cases that we investigated proves that trisomic zygote rescue may involve multiple rescue events during early embryogenesis. UPD mosaicism, when present in crucial fetal tissues, may explain the abnormal phenotype in undiagnosed cases.

Keyphrases

gene expression
machine learning
preterm infants
deep learning
atomic force microscopy
high resolution
preterm birth
genome wide identification