Table 1_Application of trio-based whole-exome sequencing in fetal ultrasound anomalies: a single-center retrospective study of 454 cases.docx
<p>This study assessed the diagnostic effectiveness of trio-WES compared to CMA in fetuses with ultrasound anomalies and explored optimal prenatal testing strategies. A retrospective review included 454 fetuses who underwent trio-WES and/or CMA between 2020 and 2023. Cases were divided into fo...
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| المؤلف الرئيسي: | |
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| مؤلفون آخرون: | , , , , , , , |
| منشور في: |
2025
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| الموضوعات: | |
| الوسوم: |
إضافة وسم
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| _version_ | 1852014590980784128 |
|---|---|
| author | Dongyi Yu (14806396) |
| author2 | Dairong Feng (22671971) Jiangbo Qu (9984653) Lei Nie (556344) Qian Liu (135614) Lu Gao (44114) Wenzhen An (21791279) Na Liu (102929) Yuying Fang (7479167) |
| author2_role | author author author author author author author author |
| author_facet | Dongyi Yu (14806396) Dairong Feng (22671971) Jiangbo Qu (9984653) Lei Nie (556344) Qian Liu (135614) Lu Gao (44114) Wenzhen An (21791279) Na Liu (102929) Yuying Fang (7479167) |
| author_role | author |
| dc.creator.none.fl_str_mv | Dongyi Yu (14806396) Dairong Feng (22671971) Jiangbo Qu (9984653) Lei Nie (556344) Qian Liu (135614) Lu Gao (44114) Wenzhen An (21791279) Na Liu (102929) Yuying Fang (7479167) |
| dc.date.none.fl_str_mv | 2025-11-24T06:17:24Z |
| dc.identifier.none.fl_str_mv | 10.3389/fgene.2025.1662801.s002 |
| dc.relation.none.fl_str_mv | https://figshare.com/articles/dataset/Table_1_Application_of_trio-based_whole-exome_sequencing_in_fetal_ultrasound_anomalies_a_single-center_retrospective_study_of_454_cases_docx/30691445 |
| dc.rights.none.fl_str_mv | CC BY 4.0 info:eu-repo/semantics/openAccess |
| dc.subject.none.fl_str_mv | Genetics fetal ultrasound anomalies prenatal diagnosis whole-exome sequencing microarray analysis chromosome disorders single gene disorders |
| dc.title.none.fl_str_mv | Table 1_Application of trio-based whole-exome sequencing in fetal ultrasound anomalies: a single-center retrospective study of 454 cases.docx |
| dc.type.none.fl_str_mv | Dataset info:eu-repo/semantics/publishedVersion dataset |
| description | <p>This study assessed the diagnostic effectiveness of trio-WES compared to CMA in fetuses with ultrasound anomalies and explored optimal prenatal testing strategies. A retrospective review included 454 fetuses who underwent trio-WES and/or CMA between 2020 and 2023. Cases were divided into four groups and 19 subgroups based on improvements in diagnosing ultrasound anomalies, demonstrating that trio-WES offers greater diagnostic value than CMA—especially for skeletal and multisystem defects, as well as ultrasound findings used to determine diagnostic yields. Trio-WES achieved a diagnostic yield of 22.7% (103/454), exceeding CMA by 17%. The highest diagnostic rates were observed in skeletal anomalies (39.2%) and multisystem anomalies (29.1%). Subgroup analysis showed higher yields in crystalline lens anomalies (60.0%) and cardiac rhabdomyoma (57.1%). Trio-WES significantly enhances prenatal diagnosis of ultrasound anomalies and provides additional diagnostic insights over CMA, particularly for skeletal, multisystem defects, and specific structural subgroups. Importantly, trio-WES helps clarify the mechanisms of ROH and assess its pathogenicity, aiding in detecting imprinted disorders. These findings support including trio-WES in prenatal testing protocols for congenital malformations and establish a framework for its clinical application.</p> |
| eu_rights_str_mv | openAccess |
| id | Manara_2df41b878886b0da8bdb404bcf6f6ff2 |
| identifier_str_mv | 10.3389/fgene.2025.1662801.s002 |
| network_acronym_str | Manara |
| network_name_str | ManaraRepo |
| oai_identifier_str | oai:figshare.com:article/30691445 |
| publishDate | 2025 |
| repository.mail.fl_str_mv | |
| repository.name.fl_str_mv | |
| repository_id_str | |
| rights_invalid_str_mv | CC BY 4.0 |
| spelling | Table 1_Application of trio-based whole-exome sequencing in fetal ultrasound anomalies: a single-center retrospective study of 454 cases.docxDongyi Yu (14806396)Dairong Feng (22671971)Jiangbo Qu (9984653)Lei Nie (556344)Qian Liu (135614)Lu Gao (44114)Wenzhen An (21791279)Na Liu (102929)Yuying Fang (7479167)Geneticsfetal ultrasound anomaliesprenatal diagnosiswhole-exome sequencingmicroarray analysischromosome disorderssingle gene disorders<p>This study assessed the diagnostic effectiveness of trio-WES compared to CMA in fetuses with ultrasound anomalies and explored optimal prenatal testing strategies. A retrospective review included 454 fetuses who underwent trio-WES and/or CMA between 2020 and 2023. Cases were divided into four groups and 19 subgroups based on improvements in diagnosing ultrasound anomalies, demonstrating that trio-WES offers greater diagnostic value than CMA—especially for skeletal and multisystem defects, as well as ultrasound findings used to determine diagnostic yields. Trio-WES achieved a diagnostic yield of 22.7% (103/454), exceeding CMA by 17%. The highest diagnostic rates were observed in skeletal anomalies (39.2%) and multisystem anomalies (29.1%). Subgroup analysis showed higher yields in crystalline lens anomalies (60.0%) and cardiac rhabdomyoma (57.1%). Trio-WES significantly enhances prenatal diagnosis of ultrasound anomalies and provides additional diagnostic insights over CMA, particularly for skeletal, multisystem defects, and specific structural subgroups. Importantly, trio-WES helps clarify the mechanisms of ROH and assess its pathogenicity, aiding in detecting imprinted disorders. These findings support including trio-WES in prenatal testing protocols for congenital malformations and establish a framework for its clinical application.</p>2025-11-24T06:17:24ZDatasetinfo:eu-repo/semantics/publishedVersiondataset10.3389/fgene.2025.1662801.s002https://figshare.com/articles/dataset/Table_1_Application_of_trio-based_whole-exome_sequencing_in_fetal_ultrasound_anomalies_a_single-center_retrospective_study_of_454_cases_docx/30691445CC BY 4.0info:eu-repo/semantics/openAccessoai:figshare.com:article/306914452025-11-24T06:17:24Z |
| spellingShingle | Table 1_Application of trio-based whole-exome sequencing in fetal ultrasound anomalies: a single-center retrospective study of 454 cases.docx Dongyi Yu (14806396) Genetics fetal ultrasound anomalies prenatal diagnosis whole-exome sequencing microarray analysis chromosome disorders single gene disorders |
| status_str | publishedVersion |
| title | Table 1_Application of trio-based whole-exome sequencing in fetal ultrasound anomalies: a single-center retrospective study of 454 cases.docx |
| title_full | Table 1_Application of trio-based whole-exome sequencing in fetal ultrasound anomalies: a single-center retrospective study of 454 cases.docx |
| title_fullStr | Table 1_Application of trio-based whole-exome sequencing in fetal ultrasound anomalies: a single-center retrospective study of 454 cases.docx |
| title_full_unstemmed | Table 1_Application of trio-based whole-exome sequencing in fetal ultrasound anomalies: a single-center retrospective study of 454 cases.docx |
| title_short | Table 1_Application of trio-based whole-exome sequencing in fetal ultrasound anomalies: a single-center retrospective study of 454 cases.docx |
| title_sort | Table 1_Application of trio-based whole-exome sequencing in fetal ultrasound anomalies: a single-center retrospective study of 454 cases.docx |
| topic | Genetics fetal ultrasound anomalies prenatal diagnosis whole-exome sequencing microarray analysis chromosome disorders single gene disorders |