Positive predictive values and outcomes for uninformative cell-free DNA tests: An Italian multicentric Cytogenetic and cytogenomic Audit of diagnOstic testing (ICARO study).
Francesca Romana GratiIlaria BestettiDaria De SieroFrancesca MalvestitiNicoletta VillaElena SalaFrancesca CrostiValentina ParisiAnna Maria NardoneGianluca Di GiacomoAntonella PettinariGiada TortoraAnnamaria MontaldiAnnapaola CalòDonatella SaccilottoSara ZanchettiPaola CelliSilvana GuerneriRosamaria SilipigniLaura CardarelliElisabetta LippiSimona CavaniMichela MalacarneRita GenesioNicola BeltramiMaria Carla PittalisLaura DesiderioMattia GentileRomina FicarellaMaria Paola RecalcatiIlaria CatusiMaria GarzoLorena MieleCecilia CortiSara GhezzoVeronica BertiniFrancesca CambiAngelo ValettoBarbara FacchinettiLaura BernardiniAnna CapalboFederica BalducciElisabetta PeloBarbara MinutiChiara PescucciCostanza GiulianiAlessandra RenieriIlaria LongoRossella TitaGiuseppe CastelloRosario CasaloneRossana RighiBarbara RasoAlessandro CivolaniMaria Cristina MuziManuela di NataleLuigia VarrialeDaniela GasperiniMaria Cristina NuzziAngelo CellamarePaola CasieriRosa BusuitoCaterina CeccariniCarla CesaranoOrsola PriviteraDaniela MelaniCristina MenozziCristina FalcinelliOlga CalabresePaola BattagliaAntonella TanzarielloTamara StampalijaCarmela ArdisiaPaolo GaspariniPeter BennAntonio NovelliPublished in: Prenatal diagnosis (2022)
NIPT PPVs differ across the conditions screened and the tissues studied in diagnostic testing. This variability, issues associated with fetal sex discordancy, and no results, illustrate the importance of pre- and post-test counselling.