Francesca Romana Grati1, Denise Molina Gomes2, Jose Carlos Pinto B. Ferreira3, Celine Dupont4, Viola Alesi5, Laetitia Gouas6, Nina Horelli-Kuitunen7, Kwong Wai Choy8, Jose Antonio Martínez-Conejero9, Alberto Gonzales de la Vega10, Krzysztof Piotrowski11, Rita Genesio12, Gloria Queipo13,14, Barbara Malvestiti1, Bérénice Hervé2,15, Brigitte Benzacken4, Antonio Novelli5, Philippe Vago6, Kirsi Piippo7, Federico Maggi1, Tak Yeung Leung8, Francesca Malvestiti1, Thibault Quibel2, Anne Claude Tabet4, Giuseppe Simoni1, François Vialard2,15
1 TOMA Advanced Biomedical Assays S.p.A, Busto Arsizio, Italy
2 CHI Poissy St Germain, Département de Cytogénétique, Obstétrique et Gynécologie, Poissy, France
3 1st Department of Obstetrics and Gynecology, Medical University of Warsaw, Poland
4 Hôpital Robert Debré-AP-HP, GHU Nord, Unité de Cytogénétique-Département de Génétique, Paris, France
5 Laboratorio di Genetica, Ospedale Pediatrico del Bambino Gesù, Polo di Ricerca, Rome, Italy e Laboratorio di Genetica, Ospedale San Pietro Fatebenefratelli
6 CHU de Clermont Ferrand, Unit of Cytogenetics, Clermont Ferrand, France
7 United Medix Laboratories Ltd., Department of Genetics, Helsinki, Finland
8 Chinese University of Hong Kong, Department of Obstetrics and Gynecology, Hong Kong, China
9 Iviomics SL, Laboratory of Cytogenetics, Valence, Spain
10 CGC Genetics, Laboratory of Cytogenetics, Madrid, Spain
11 University of Medicine Pomeranian, Unit of Cytogenetics, Dept. of Pathology, Szczecin, Poland
12 Dipartimento di Medicina Molecolare e Biotecnolgie Mediche Università di Napoli Federico II.
13 Hospital General de México Eduardo Liceaga-Facultad de Medicina UNAM, Mexico City, Mexico
14 NanoLab “Next generation diagnostic” Mexico City Mexico,
15 UPCG, UVSQ, Versaille, France
Prenatal Diagnosis 2015, 35, 801–809
The implementation of chromosomal microarray analysis (CMA) in prenatal testing for all patients has not
achieved a consensus. Technical alternatives such as Prenatal BACs-on-BeadsTM (PNBoBsTM) have thus been applied.
The aim of this study was to provide the frequencies of the submicroscopic defects detectable by PNBoBsTM under
different prenatal indications.
The constant a priori risk for common pathogenic cryptic imbalances detected by this technology is
estimated to be ~0.3%. A prevalence higher than that previously estimated was found for the 22q11.2 microdeletion.
Their frequencies were independent of maternal age. These data have implications for cell-free DNA screening tests
design and justify prenatal screening for 22q11 deletion, as early recognition of DGS improves its prognosis. © 2015
John Wiley & Sons, Ltd.
Clicca qui per l’articolo completo
