Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies
Prenatal Diagnosis2015Vol. 35(8), pp. 801–809
Citations Over TimeTop 1% of 2015 papers
Francesca Romana Grati, D. Molina Gomes, José Carlos Ferreira, Céline Dupont, Viola Alesi, Laëtitia Gouas, Nina Horelli‐Kuitunen, Kwong Wai Choy, Sandra García-Herrero, Alberto González de la Vega, Krzysztof Piotrowski, Rita Genesio, Gloria Queipo, Barbara Malvestiti, Bérénice Herve, Brigitte Benzacken, Antonio Novelli, Philippe Vago, Kirsi Piippo, Tak Yeung Leung, Federico Maggi, Thibault Quibel, Anne Claude Tabet, Giuseppe Simoni, François Vialard
Abstract
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.
Related Papers
- → Microdeletion and microduplication 22q11.2 screening in 295 patients with clinical features of DiGeorge/Velocardiofacial syndrome(2006)91 cited
- → Co‐occurrence of a de novo Williams and 22q11.2 microdeletion syndromes(2015)5 cited
- → Chromosome 22q11.2 Microdeletion Syndrome(2011)6 cited
- → P59 Clinical diversity in 22q11.2 microdeletion syndrome & difficulties in diagnoses using only fluroscence in situ hybridisation (fish)(2017)
- → Kromozom 22q11.2 Delesyon Sendromunun Ender Bir Bulgusu: Multikistik Displastik Böbrek(2019)