학술논문
Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies
Document Type
Academic Journal
Author
Grati, Francesca Romana; Molina Gomes, Denise; Ferreira, Jose Carlos Pinto B.; Dupont, Celine; Alesi, Viola; Gouas, Laetitia; Horelli-Kuitunen, Nina; Choy, Kwong Wai; García-Herrero, Sandra; de la Vega, Alberto Gonzalez; Piotrowski, Krzysztof; Genesio, Rita; Queipo, Gloria; Malvestiti, Barbara; Hervé, Bérénice; Benzacken, Brigitte; Novelli, Antonio; Vago, Philippe; Piippo, Kirsi; Leung, Tak Yeung; Maggi, Federico; Quibel, Thibault; Tabet, Anne Claude; Simoni, Giuseppe; Vialard, François
Source
Prenatal Diagnosis. Aug 01, 2015 35(8):801-809
Subject
Language
English
ISSN
0197-3851
Abstract
OBJECTIVES: 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-Beads (PNBoBs) have thus been applied. The aim of this study was to provide the frequencies of the submicroscopic defects detectable by PNBoBs under different prenatal indications. METHODS: A total of 9648 prenatal samples were prospectively analyzed by karyotyping plus PNBoBs and classified by prenatal indication. The frequencies of the genomic defects and their 95%CIs were calculated for each indication. RESULTS: The overall incidence of cryptic imbalances was 0.7%. The majority involved the DiGeorge syndrome critical region (DGS). The additional diagnostic yield of PNBoBs in the population with a low a priori risk was 1/298. The prevalences of DGS microdeletion and microduplication in the low-risk population were 1/992 and 1/850, respectively. CONCLUSIONS: 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.