{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["30(12)"],"submitter":["Lannoo L"],"funding":["Research funding provided by the hospital for clinical research for staff members. KOOR-FUNDING"],"pubmed_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 functio"],"journal":["European journal of human genetics : EJHG"],"pagination":["1323-1330"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9712527"],"repository":["biostudies-literature"],"pubmed_title":["Rare autosomal trisomies detected by non-invasive prenatal testing: an overview of current knowledge."],"pmcid":["PMC9712527"],"pubmed_authors":["Dimitriadou E","Van Calsteren K","Parijs I","Lannoo L","van Straaten K","Brison N","Legius E","Van Buggenhout G","Peeters H","Vermeesch JR","De Catte L","Tsuiko O","Vancoillie L","Van Den Bogaert K","Breckpot J","Devriendt K"],"additional_accession":[]},"is_claimable":false,"name":"Rare autosomal trisomies detected by non-invasive prenatal testing: an overview of current knowledge.","description":"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 functio","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Dec","modification":"2025-04-21T23:05:38.347Z","creation":"2025-04-05T19:03:46.352Z"},"accession":"S-EPMC9712527","cross_references":{"pubmed":["35896702"],"doi":["10.1038/s41431-022-01147-1"]}}