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

Authors :
Lannoo L
van Straaten K
Breckpot J
Brison N
De Catte L
Dimitriadou E
Legius E
Peeters H
Parijs I
Tsuiko O
Vancoillie L
Vermeesch JR
Van Buggenhout G
Van Den Bogaert K
Van Calsteren K
Devriendt K
Source :
European journal of human genetics : EJHG [Eur J Hum Genet] 2022 Dec; Vol. 30 (12), pp. 1323-1330. Date of Electronic Publication: 2022 Jul 27.
Publication Year :
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.<br /> (© 2022. The Author(s), under exclusive licence to European Society of Human Genetics.)

Details

Language :
English
ISSN :
1476-5438
Volume :
30
Issue :
12
Database :
MEDLINE
Journal :
European journal of human genetics : EJHG
Publication Type :
Academic Journal
Accession number :
35896702
Full Text :
https://doi.org/10.1038/s41431-022-01147-1