Risk estimation of uniparental disomy of chromosome 14 or 15 in a fetus with a parent carrying a non-homologous Robertsonian translocation. Should we still perform prenatal diagnosis?
Kamran MoradkhaniLaurence CuissetPierre BoisseauOlivier PichonMarine LebrunHouda Hamdi-RozéMarie-Laure MaurinNicolas GruchyMarie-Christine Manca-PellissierPerrine MalzacFrédéric BilanMarie-Pierre AudrezetPascale Saugier-VeberAnne-Laure Fauret-AmsellemChantal MissirianPaul KuentzGregory EgeaAgnès GuichetIsabelle CreveauxCaroline JanelInes HarzallahRenaud TouraineCarole GoumyNicole JoyéJacques PuechbertyEmmanuelle HaquetSandra Chantot-BastaraudSébastien SchmittPhilippe GossetBénédicte Duban-BeduBruno DelobelPhilippe VagoFrançois VialardDenise Molina GomesJean-Pierre SiffroiJean-Paul BonnefontJean-Michel DupontPhilippe JonveauxMartine Doco-FenzyDamien SanlavilleCédric Le CaignecPublished in: Prenatal diagnosis (2019)
Considering these data, the risk of UPD following prenatal diagnosis of an inherited ROB involving chromosome 14 and/or 15 could be estimated to be around 0.06%, far less than the previous estimation. Importantly, the risk of miscarriage following an invasive prenatal sampling is higher than the risk of UPD. Therefore, we do not recommend prenatal testing for UPD for these pregnancies and parents should be reassured.