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Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies
Author(s) -
Grati Francesca Romana,
Molina Gomes Denise,
Ferreira Jose Carlos Pinto B.,
Dupont Celine,
Alesi Viola,
Gouas Laetitia,
HorelliKuitunen Nina,
Choy Kwong Wai,
GarcíaHerrero Sandra,
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
Publication year - 2015
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.4613
Subject(s) - prenatal diagnosis , digeorge syndrome , medicine , population , microdeletion syndrome , karyotype , microarray , prenatal screening , pediatrics , copy number variation , incidence (geometry) , pregnancy , obstetrics , genetics , fetus , biology , phenotype , chromosome , gene , genome , gene expression , physics , environmental health , optics
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 TM (PNBoBs TM ) have thus been applied. The aim of this study was to provide the frequencies of the submicroscopic defects detectable by PNBoBs TM under different prenatal indications. Methods A total of 9648 prenatal samples were prospectively analyzed by karyotyping plus PNBoBs TM 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 TM 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.