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Implementation of fetal clinical exome sequencing: Comparing prospective and retrospective cohorts.

par Marangoni, Martina ;Smits, Guillaume ;Ceysens, Gilles ;Costa, Elena ;Coulon, Robert;Daelemans, Caroline ;De Coninck, Caroline ;Derisbourg, Sara ;Gajewska, Kalina ;Garofalo, Giulia;Gounongbe, Caroline;Guizani, Meriem ;Holoye, Anne ;Houba, Catherine;Makhoul, Jean;Norgaard, Christian;Regnard, Cecile;Romée, Stephanie;Soto, Jamil;Stagel-Trabbia, Aurore;Van Rysselberge, Michel ;Vercoutere, An ;Zaytouni, Siham ;Bouri, Sarah ;D'Haene, Nicky ;D'Onle, Dominique;Dugauquier, Christian;Racu, Marie-Lucie ;Rocq, Laureen ;Segers, Valérie ;Verocq, Camille ;Avni, Ephraïm Freddy ;Cassart, Marie ;Massez, Anne ;Blaumeiser, Bettina;Brischoux-Boucher, Elise;Bulk, Saskia;De Ravel, Thomy;Debray, Francois-Guillaume;Dimitrov, Boyan;Janssens, Sandra;Keymolen, Kathelijn;Laterre, Marie;van Berkel, Kim;Van Maldergem, Lionel;Vandernoot, Isabelle ;Vilain, Catheline ;donner, catherine ;Tecco, Laura ;Thomas, Dominique;Désir, Julie ;Abramowicz, Marc ;Migeotte, Isabelle
Référence Genetics in medicine
Publication Publié, 2021-11-01

Article révisé par les pairs

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Résumé :

We compared the diagnostic yield of fetal clinical exome sequencing (fCES) in prospective and retrospective cohorts of pregnancies presenting with anomalies detected using ultrasound. We evaluated factors that led to a higher diagnostic efficiency, such as phenotypic category, clinical characterization, and variant analysis strategy.