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Pauta, Montse; Campos, Berta; Segura-Puimedon, Maria; Arca, Gemma; Nadal, Alfons; Tubau, Albert; Perez, Silvia Pina; Marimon, Edda; Martín, Lourdes; López-Quesada, Eva; Sabrià, Joan; Muñoz, Begoña; Garcia, Esperanza; Paz Y. Miño, Fernanda; Borobio, Virginia; Gomez, Olga; Eixarch, Elisenda; Lopez, Monica; Comas Rovira, Montserrat; Borrell, Antoni
Fetal diagnosis and therapy, 12/2021, Letnik: 48, Številka: 10Journal Article
Objective: The aim of the study was to assess the diagnostic yield of 2 different next-generation sequencing (NGS) approaches: gene panel and “solo” clinical exome sequencing (solo-CES), in fetuses with structural anomalies and normal chromosomal microarray analysis (CMA), in the absence of a known familial mutation. Methodology: Gene panels encompassing from 2 to 140 genes, were applied mainly in persistent nuchal fold/fetal hydrops and in large hyperechogenic kidneys. Solo-CES, which entails sequencing the fetus alone and only interpreting the Online Mendelian Inheritance in Man genes, was performed in multisystem or recurrent structural anomalies. Results: During the study period (2015–2020), 153 NGS studies were performed in 148 structurally abnormal fetuses with a normal CMA. The overall diagnostic yield accounted for 35% (53/153) of samples and 36% (53/148) of the fetuses. Diagnostic yield with the gene panels was 31% (15/49), similar to 37% (38/104) in solo-CES. Conclusions: A monogenic disease was established as the underlying cause in 35% of selected fetal structural anomalies by gene panels and solo-CES.
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JCR | SNIP | JCR | SNIP | JCR | SNIP | JCR | SNIP |
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Vir: Osebne bibliografije
in: SICRIS
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