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1. Corrigendum to < Rapid evaluation of T cell clonality in the diagnostic work-up of mature T cell neoplasms: TRBC1-based flow cytometric assay experience>

Author

Capone, Manuela, primary, Peruzzi, Benedetta, additional, Palterer, Boaz, additional, Bencini, Sara, additional, Sanna, Alessandro, additional, Puccini, Benedetta, additional, Nassi, Luca, additional, Salvadori, Benedetta, additional, Statello, Marinella, additional, Carraresi, Alessia, additional, Stefanelli, Stefania, additional, Orazzini, Chiara, additional, Minuti, Barbara, additional, Caporale, Roberto, additional, and Annunziato, Francesco, additional

Published
2023
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2. Corrigendum to < Rapid evaluation of T cell clonality in the diagnostic work-up of mature T cell neoplasms: TRBC1-based flow cytometric assay experience><Translational Oncology, 26C (2022) 101552]>

Author

Capone, Manuela, Peruzzi, Benedetta, Palterer, Boaz, Bencini, Sara, Sanna, Alessandro, Puccini, Benedetta, Nassi, Luca, Salvadori, Benedetta, Statello, Marinella, Carraresi, Alessia, Stefanelli, Stefania, Orazzini, Chiara, Minuti, Barbara, Caporale, Roberto, and Annunziato, Francesco

Subjects
Corrigendum
Published
2023

3. Rapid evaluation of T cell clonality in the diagnostic work-up of mature T cell neoplasms: TRBC1-based flow cytometric assay experience

Author

Capone, Manuela, primary, Peruzzi, Benedetta, additional, Palterer, Boaz, additional, Bencini, Sara, additional, Sanna, Alessandro, additional, Puccini, Benedetta, additional, Nassi, Luca, additional, Salvadori, Benedetta, additional, Statello, Marinella, additional, Carraresi, Alessia, additional, Stefanelli, Stefania, additional, Orazzini, Chiara, additional, Minuti, Barbara, additional, Caporale, Roberto, additional, and Annunziato, Francesco, additional

Published
2022
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4. Positive predictive values and outcomes for uninformative cell‐free DNA tests: An Italian multicentric Cytogenetic and cytogenomic Audit of diagnOstic testing (ICARO study)

Author

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

Published
2022
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5. Positive Predictive Values and Outcomes for Uninformative Cell-Free DNA Tests: An Italian Multicentric Cytogenetic and Cytogenomic Audit of DiagnOstic Testing (ICARO Study)

Author

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, and Novelli, Antonio

Abstract

(Abstracted from Prenat Diagn2022;42:1575–1586Methods for diagnosis of genetic abnormalities have recently undergone substantial improvement. Noninvasive prenatal testing (NIPT) is performed early in pregnancy, typically at the end of the first trimester using cell-free DNA (cfDNA) to identify 3 commonly occurring trisomies (13, 18, and 21).

Published
2023
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7. Validation of a method for noninvasive prenatal testing for fetal aneuploidies risk and considerations for its introduction in the Public Health System

Author

Gerundino, Francesca, primary, Giachini, Claudia, additional, Contini, Elisa, additional, Benelli, Matteo, additional, Marseglia, Giuseppina, additional, Giuliani, Costanza, additional, Marin, Francesca, additional, Nannetti, Genni, additional, Lisi, Ermanna, additional, Sbernini, Fiammetta, additional, Periti, Enrico, additional, Cordisco, Adalgisa, additional, Colosi, Enrico, additional, D’ambrosio, Valentina, additional, Mazzi, Marta, additional, Rossi, Maya, additional, Staderini, Lucia, additional, Minuti, Barbara, additional, Pelo, Elisabetta, additional, Cicatiello, Rita, additional, Maruotti, Giuseppe Maria, additional, Sglavo, Gabriella, additional, Conti, Anna, additional, Frusconi, Sabrina, additional, Pescucci, Chiara, additional, and Torricelli, Francesca, additional

Published
2016
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9. Validation of a method for noninvasive prenatal testing for fetal aneuploidies risk and considerations for its introduction in the Public Health System.

Author

Gerundino, Francesca, Giachini, Claudia, Contini, Elisa, Benelli, Matteo, Marseglia, Giuseppina, Giuliani, Costanza, Marin, Francesca, Nannetti, Genni, Lisi, Ermanna, Sbernini, Fiammetta, Periti, Enrico, Cordisco, Adalgisa, Colosi, Enrico, D'ambrosio, Valentina, Mazzi, Marta, Rossi, Maya, Staderini, Lucia, Minuti, Barbara, Pelo, Elisabetta, and Cicatiello, Rita

Subjects
PRENATAL diagnosis, PRENATAL care, FIRST trimester of pregnancy, ANEUPLOIDY, PUBLIC health, CELLS, COMPARATIVE studies, DNA, LONGITUDINAL method, RESEARCH methodology, MEDICAL cooperation, NONPARAMETRIC statistics, PREGNANCY complications, RESEARCH, EVALUATION research, DOWN syndrome, SEQUENCE analysis
Abstract

Objective: The aim of this study was to validate noninvasive prenatal testing (NIPT) for fetal aneuploidies by whole-genome massively parallel sequencing (MPS).Methods: MPS was performed on cell-free DNA (cfDNA) isolated from maternal plasma in two groups: a first set of 186 euploid samples and a second set of 195 samples enriched of aneuploid cases (n = 69); digital PCR for fetal fraction (FF) assessment was performed on 178/381 samples. Cases with <10 × 106 reads (n = 54) were excluded for downstream data analysis. Follow-up data (invasive testing results or neonatal information) were available for all samples. Performances in terms of specificity/sensitivity and Z-score distributions were evaluated.Results: All positive samples for trisomy 21 (T21) (n = 43), trisomy 18 (T18) (n = 6) and trisomy 13 (T13) (n = 7) were correctly identified (sensitivity: 99.9%); 5 false positive results were reported: 3 for T21 (specificity = 98.9%) and 2 for T13 (specificity = 99.4%). Besides FF, total cfDNA concentration seems another important parameter for MPS, since it influences the number of reads.Conclusions: The overall test accuracy allowed us introducing NIPT for T21, T18 and T13 as a clinical service for pregnant women after 10 + 4 weeks of gestation. Sex chromosome aneuploidy assessment needs further validation due to the limited number of aneuploid cases in this study. [ABSTRACT FROM AUTHOR]

Published
2017
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12. Spectrum ofUGT1A1 mutations in Crigler-Najjar (CN) syndrome patients: identification of twelve novel alleles and genotype-phenotype correlation

Author

Servedio, Veronica, primary, d'Apolito, Maria, additional, Maiorano, Nunzia, additional, Minuti, Barbara, additional, Torricelli, Francesca, additional, Ronchi, Flavio, additional, Zancan, Lucia, additional, Perrotta, Silverio, additional, Vajro, Pietro, additional, Boschetto, Loredana, additional, and Iolascon, Achille, additional

Published
2005
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13. p53 and DPC4 alterations in the bile of patients with pancreatic carcinoma

Author

Pantalone, Desiree, primary, Pelo, Elisbetta, additional, Minuti, Barbara, additional, Giotti, Irene, additional, Mazza, Ernesto, additional, Falchini, Massimo, additional, Neri, Bruno, additional, Nesi, Gabriella, additional, Roberta Girardi, Lucia, additional, Pulli, Raffaele, additional, Credi, Giovanni, additional, and Torricelli, Francesca, additional

Published
2004
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16. Spectrum of UGT1A1 mutations in Crigler-Najjar (CN) syndrome patients: identification of twelve novel alleles and genotype-phenotype correlation.

Author

Servedio, Veronica, d'Apolito, Maria, Maiorano, Nunzia, Minuti, Barbara, Torricelli, Francesca, Ronchi, Flavio, Zancan, Lucia, Perrotta, Silverio, Vajro, Pietro, Boschetto, Loredana, and Iolascon, Achille

Abstract

Crigler-Najjar syndrome types I and II (CN1 and CN2) are usually inherited as autosomal recessive conditions and are characterized by non-hemolytic unconjugated hyperbilirubinaemia. CN1 is the most severe form, associated with the absence of hepatic bilirubin-uridinediphosphoglucuronate glucuronosyltransferase (UGT1A1) activity. CN2 presents intermediate levels of hyperbilirubinaemia as a result of an incomplete deficiency of hepatic UGT1A1 activity. Here, we present the analysis of UGT1A1 gene in 31 unrelated Crigler-Najjar (CN) syndrome patients. This analysis allowed us to identify 22 mutations, 12 of which were no previously described, expanding the spectrum of known UGT1 mutations to 77. Novel mutations, considered pathogenic, including one nonsense mutation, two altered splice sites, one single base deletion and nine missense mutations were identified in coding exons of the UGT1A1gene and flanking introns. Several novel missense mutations localize in critical domain of UGT1A1 enzyme. In addition, the evaluation of Gilbert-type promoter of UGT1A1in Crigler-Najjar (CN) syndrome patients was performed. The polymorphisms of the promoter region can modify the UGT1A1 mutation phenotype. This study represents the molecular characterization of the largest cohort of Italian Crigler-Najjar Gilbert syndrome patients studied so far; increase the mutational spectrum of UGT1A1 allelic variants worldwide and provide a new insight useful for clinical diagnosis and genetic counseling. © 2005 Wiley-Liss, Inc. [ABSTRACT FROM AUTHOR]

Published
2005
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17. Positive predictive values and outcomes for uninformative cell-free DNA tests: An Italian multicentric Cytogenetic and cytogenomic Audit of diagnOstic testing (ICARO Study)

Author

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, 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, and Novelli, Antonio

Subjects
cfDNAtesting, Obstetrics and Gynecology, Genetics (clinical)
Abstract

Objectives: To establish the positive predictive values (PPV) of cfDNA testing based on data from a nationwide survey of independent clinical cytogenetics laboratories. 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.

Published
2022

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