1. De novo balanced chromosome rearrangements in prenatal diagnosis
- Author
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Daniela Giardino, Cecilia Corti, Lucia Ballarati, Daniela Colombo, Elena Sala, Nicoletta Villa, Giuseppe Piombo, Mauro Pierluigi, Francesca Faravelli, Silvana Guerneri, Domenico Coviello, Faustina Lalatta, Ugo Cavallari, Daniela Bellotti, Sergio Barlati, Gianfranco Croci, Fabrizia Franchi, Elisa Savin, Gianfranco Nocera, Francesco Paolo Amico, Paola Granata, Rosario Casalone, Lucia Nutini, Ermanna Lisi, Francesca Torricelli, Ursula Giussani, Barbara Facchinetti, Ginevra Guanti, Marilena Di Giacomo, Francesco Paolo Susca, Vanna Pecile, Lorenza Romitti, Laura Cardarelli, Erika Racalbuto, Maria Adalgisa Police, Francamaria Chiodo, Ornella Rodeschini, Patrizia Falcone, Emilio Donti, Maria Grazia Grimoldi, Emanuela Martinoli, Sabine Stioui, Daniele Caufin, Salvatrice Antonia Lauricella, Salvatrice Antonella Tanzariello, Gianfranco Voglino, Elisabetta Lenzini, Marco Besozzi, Lidia Larizza, and Leda Dalprà
- Subjects
Genetics ,Amniotic fluid ,Chromosomal fragile site ,Obstetrics and Gynecology ,Chromosome ,Prenatal diagnosis ,Chromosomal translocation ,Chromosome Fragility ,Biology ,medicine.anatomical_structure ,Chromosome 3 ,medicine ,Chorionic villi ,Genetics (clinical) - Abstract
Objective We surveyed the datasheets of 29 laboratories concerning prenatal diagnosis of de novo apparently balanced chromosome rearrangements to assess the involvement of specific chromosomes, the breakpoints distribution and the impact on the pregnancy outcome. Method By means of a questionnaire, data on 269.371 analyses performed from 1983 to 2006 on amniotic fluid, chorionic villus and fetal blood samples were collected. Results A total of 246 balanced anomalies were detected at frequencies of 72% for reciprocal translocations, 18% for Robertsonian translocations, 7% for inversions and 3% for complex chromosome rearrangements. The total frequencies of balanced rearrangements were 0.09%, 0.08% and 0.05% on amniotic fluid, chorionic villus and fetal blood samples. Conclusion A preferential involvement of chromosomes 22, 7, 21, 3, 9 and 11 and a less involvement of chromosomes X, 19, 12, 6 and 1 was observed. A nonrandom distribution of the breakpoints across chromosomes was noticed. Association in the location of recurrent breakpoints and fragile sites was observed for chromosomes 11, 7, 10 and 22, while it was not recorded for chromosome 3. The rate of pregnancy termination was about 20%, with frequencies decreasing from complex chromosomal rearrangements (33%), reciprocal translocations (24%) to inversions (11%) and Robertsonian translocations (3%). Copyright © 2009 John Wiley & Sons, Ltd.
- Published
- 2009