Rare autosomal trisomies detected by non-invasive prenatal testing: an overview of current knowledge.

Lannoo L, van Straaten K, Breckpot J, et al. Eur J Hum Genet. 2022;30(12):1323-1330. doi:10.1038/s41431-022-01147-1.

Tags: Review / Meta-Analysis, 2022, International, RAAs

  • “In this review we reviewed the current knowledge of the most common RATs. We compiled clinical relevant parameters such as incidence, meiotic or mitotic origin, the risk of fetal (mosaic) aneuploidy, clinical manifestations of fetal mosaicism for a RAT, the effect of confined placental mosaicism on placental function and the risk of uniparental disomy (UPD). Finally, we identified gaps in the knowledge on RATs and highlight areas of future research. This overview may serve as a first guide for prenatal management for each of these RATs.”