Next-Generation Sequencing Gene Panels and 'Solo' Clinical Exome Sequencing Applied in Structurally Abnormal Fetuses
| Autor: | Elisenda Eixarch, Alfons Nadal, E. Marimon, Begoña Muñoz, Montse Pauta, Berta Campos, Eva López-Quesada, Lourdes Martin, Gemma Arca, Montserrat Comas Rovira, Monica Lopez, Silvia Pina Perez, Antoni Borrell, Fernanda Paz Y. Miño, Olga Leticia Fuchs Gómez, Maria Segura-Puimedon, Virginia Borobio, Albert Tubau, Esperanza Garcia, Joan Sabrià |
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| Rok vydání: | 2021 |
| Předmět: |
Embryology
Prenatal diagnosis medicine.disease_cause Ultrasonography Prenatal DNA sequencing Fetus Pregnancy OMIM : Online Mendelian Inheritance in Man medicine Humans Exome Radiology Nuclear Medicine and imaging Gene Exome sequencing Genetics Mutation Microarray analysis techniques business.industry Genetic disorder High-Throughput Nucleotide Sequencing Obstetrics and Gynecology General Medicine medicine.disease Pregnancy Trimester First Pediatrics Perinatology and Child Health Female business |
| Zdroj: | Fetal Diagnosis and Therapy. 48:746-756 |
| ISSN: | 1421-9964 1015-3837 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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