{"id":1463,"date":"2025-11-24T00:00:00","date_gmt":"2025-11-24T00:00:00","guid":{"rendered":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fgene.2025.1662801"},"modified":"2025-11-24T00:00:00","modified_gmt":"2025-11-24T00:00:00","slug":"application-of-trio-based-whole-exome-sequencing-in-fetal-ultrasound-anomalies-a-single-center-retrospective-study-of-454-cases","status":"publish","type":"post","link":"https:\/\/sebigec.es\/blog\/index.php\/2025\/11\/24\/application-of-trio-based-whole-exome-sequencing-in-fetal-ultrasound-anomalies-a-single-center-retrospective-study-of-454-cases\/","title":{"rendered":"Application of trio-based whole-exome sequencing in fetal ultrasound anomalies: a single-center retrospective study of 454 cases"},"content":{"rendered":"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\u2014especially 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.","protected":false},"excerpt":{"rendered":"<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 20&#8230;<\/p>\n","protected":false},"author":262,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[6,12,13,82],"tags":[71],"class_list":["post-1463","post","type-post","status-publish","format-standard","hentry","category-articulos","category-enfermedades-raras","category-frontiers-in-genetics","category-original-research","tag-frontgenet"],"_links":{"self":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/1463","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/users\/262"}],"replies":[{"embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/comments?post=1463"}],"version-history":[{"count":1,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/1463\/revisions"}],"predecessor-version":[{"id":1464,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/1463\/revisions\/1464"}],"wp:attachment":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/media?parent=1463"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/categories?post=1463"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/tags?post=1463"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}