Article
Next-generation sequencing in a series of 80 fetuses with complex cardiac malformations and/or heterotaxy.
Human mutation - 1 Dec 2020
Liu Hui, Giguet-Valard Anna-Gaëlle, Simonet Thomas, Szenker-Ravi Emmanuelle, Lambert Laetitia, Vincent-Delorme Catherine, Scheidecker Sophie, Fradin Mélanie, Morice-Picard Fanny, Naudion Sophie, Ciorna-Monferrato Viorica, Colin Estelle, Fellmann Florence, Blesson Sophie, Jouk Pierre-Simon, Francannet Christine, Petit Florence, Moutton Sébastien, Lehalle Daphné, Chassaing Nicolas, El Zein Loubna, Bazin Anne, Bénéteau Claire, Attié-Bitach Tania, Hanu Sylvie M, Brechard Marie-Pierre, Chiesa Jean, Pasquier Laurent, Rooryck-Thambo Caroline, Van Maldergem Lionel, Cabrol Christelle, El Chehadeh Salima, Vasiljevic Alexandre, Isidor Bertrand, Abel Carine, Thevenon Julien, Di Filippo Sylvie, Vigouroux-Castera Adeline, Attia Jocelyne, Quelin Chloé, Odent Sylvie, Piard Juliette, Giuliano Fabienne, Putoux Audrey, Khau Van Kien Philippe, Yardin Catherine, Touraine Renaud, Reversade Bruno, Bouvagnet Patrice
Abstract excerpt
Herein, we report the screening of a large panel of genes in a series of 80 fetuses with congenital heart defects (CHDs) and/or heterotaxy and no cytogenetic anomalies. There were 49 males (61%/39%), with a family history in 28 cases (35%) and no parental consanguinity in 77 cases (96%). All fetuses had complex CHD except one who had heterotaxy and midline anomalies while 52 cases (65%) had heterotaxy in addition...
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