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 Grati,Ilaria Bestetti,Daria De Siero,Francesca Malvestiti,Nicoletta Villa,Elena Sala,Francesca Crosti,Valentina Parisi,Anna Maria Nardone,Gianluca Di Giacomo,Antonella Pettinari,Giada Tortora,Annamaria Montaldi,Annapaola Calò,Donatella Saccilotto,Sara Zanchetti,Paola Celli,Silvana Guerneri,Rosamaria Silipigni,Laura Cardarelli,Elisabetta Lippi,Simona Cavani,Michela Malacarne,Rita Genesio,Nicola Beltrami,Maria Carla Pittalis,Laura Desiderio,Mattia Gentile,Romina Ficarella,Maria Paola Recalcati,Ilaria Catusi,Maria Garzo,Lorena Miele,Cecilia Corti,Sara Ghezzo,Veronica Bertini,Francesca Cambi,Angelo Valetto,Barbara Facchinetti,Laura Bernardini,Anna Capalbo,Federica Balducci,Elisabetta Pelo,Barbara Minuti,Chiara Pescucci,Costanza Giuliani,Alessandra Renieri,Ilaria Longo,Rossella Tita,Giuseppe Castello,Rosario Casalone,Rossana Righi,Barbara Raso,Alessandro Civolani,Maria Cristina Muzi,Manuela di Natale,Luigia Varriale,Daniela Gasperini,Maria Cristina Nuzzi,Angelo Cellamare,Paola Casieri,Rosa Busuito,Caterina Ceccarini,Carla Cesarano,Orsola Privitera,Daniela Melani,Cristina Menozzi,Cristina Falcinelli,Olga Calabrese,Paola Battaglia,Antonella Tanzariello,Tamara Stampalija,Carmela Ardisia,Paolo Gasparini,Peter Benn,Antonio Novelli

Prenatal diagnosis（2022）

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摘要

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.

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关键词

cytogenomic audit,italian multicentric cytogenetic,dna,diagnostic testing,positive predictive values

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