Positive predictive values and outcomes for uninformative cell-free DNA tests: An Italian multicentric Cytogenetic and cytogenomic Audit of diagnOstic testing (ICARO study).
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Grati Francesca Romana, Bestetti Ilaria, De Siero Daria, Malvestiti Francesca, Villa Nicoletta, Sala Elena, Crosti Francesca, Parisi Valentina, Nardone Anna Maria, Di Giacomo Gianluca, Pettinari Antonella, Tortora Giada, Montaldi Annamaria, Calò Annapaola, Saccilotto Donatella, Zanchetti Sara, Celli Paola, Guerneri Silvana, Silipigni Rosamaria, Cardarelli Laura, Lippi Elisabetta, Cavani Simona, Malacarne Michela, Genesio Rita, Beltrami Nicola, Pittalis Maria Carla, Desiderio Laura, Gentile Mattia, Ficarella Romina, Recalcati Maria Paola, Catusi Ilaria, Garzo Maria, Miele Lorena, Corti Cecilia, Ghezzo Sara, Bertini Veronica, Cambi Francesca, Valetto Angelo, Facchinetti Barbara, Bernardini Laura, Capalbo Anna, Balducci Federica, Pelo Elisabetta, Minuti Barbara, Pescucci Chiara, Giuliani Costanza, Renieri Alessandra, Longo Ilaria, Tita Rossella, Castello Giuseppe, Casalone Rosario, Righi Rossana, Raso Barbara, Civolani Alessandro, Muzi Maria Cristina, di Natale Manuela, Varriale Luigia, Gasperini Daniela, Nuzzi Maria Cristina, Cellamare Angelo, Casieri Paola, Busuito Rosa, Ceccarini Caterina, Cesarano Carla, Privitera Orsola, Melani Daniela, Menozzi Cristina, Falcinelli Cristina, Calabrese Olga, Battaglia Paola, Tanzariello Antonella, Stampalija Tamara, Ardisia Carmela, Gasparini Paolo, Benn Peter, Novelli Antonio
Аннотация
METHODS: Prenatal diagnostic test results obtained by Italian laboratories between 2013 and March 2020 were compiled for women with positive non-invasive prenatal tests (NIPT), without an NIPT result, and cases where there was sex discordancy between the NIPT and ultrasound. PPV and other summary data were reviewed.
RESULTS: Diagnostic test results were collected for 1327 women with a positive NIPT. The highest PPVs were for Trisomy (T) 21 (624/671, 93%) and XYY (26/27, 96.3%), while rare autosomal trisomies (9/47, 19.1%) and recurrent microdeletions (8/55, 14.5%) had the lowest PPVs. PPVs for T21, T18, and T13 were significantly higher when diagnostic confirmation was carried out on chorionic villi (97.5%) compared to amniotic fluid (89.5%) (p < 0.001). In 19/139 (13.9%), of no result cases, a cytogenetic abnormality was detected. Follow-up genetic testing provided explanations for 3/6 cases with a fetal sex discordancy between NIPT and ultrasound.
CONCLUSIONS: 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.