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

European Journal of Human Genetics volume 30, pages 1323–1330 (2022)Cite this article

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A Comment to this article was published on 31 August 2022

Abstract

Non-invasive prenatal testing has been introduced for the detection of Trisomy 13, 18, and 21. Using genome-wide screening also other “rare” autosomal trisomies (RATs) can be detected with a frequency about half the frequency of the common trisomies in the large population-based studies. Large prospective studies and clear clinical guidelines are lacking to provide adequate counseling and management to those who are confronted with a RAT as a healthcare professional or patient. 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.

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Fig. 1: Frequency of RATs detected by NIPT.
Fig. 2: Risk of fetal trisomy per RAT detected by NIPT in population-based studies.

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Funding

Clinical research funding (KOOR-funding University Hospital Leuven) for Lore Lannoo/Kristel Van Calsteren.

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Authors and Affiliations

  1. Department of Obstetrics and Gynaecology, Division Woman and Child, University Hospitals Leuven, Leuven, Belgium

    Lore Lannoo, Luc De Catte & Kristel Van Calsteren

  2. Faculty of Medicine, KU Leuven, Leuven, Belgium

    Khaila van Straaten

  3. Department of Human Genetics, University Hospitals Leuven, Leuven, Belgium

    Jeroen Breckpot, Nathalie Brison, Eftychia Dimitriadou, Eric Legius, Hilde Peeters, Ilse Parijs, Olga Tsuiko, Leen Vancoillie, Joris Robert Vermeesch, Griet Van Buggenhout, Kris Van Den Bogaert & Koenraad Devriendt

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All authors:—Conceived and/or designed the work that led to the submission, acquired data, and/or played an important role in interpreting the results. - Drafted or revised the manuscript. - Approved the final version. Agreed to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.

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Correspondence to Koenraad Devriendt.

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Lannoo, L., van Straaten, K., Breckpot, J. et al. Rare autosomal trisomies detected by non-invasive prenatal testing: an overview of current knowledge. Eur J Hum Genet 30, 1323–1330 (2022). https://doi.org/10.1038/s41431-022-01147-1

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