{"id":2151,"date":"2026-02-25T21:23:48","date_gmt":"2026-02-25T21:23:48","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=2151"},"modified":"2026-02-25T21:25:09","modified_gmt":"2026-02-25T21:25:09","slug":"inherited-variants-in-autosomal-dominant-disease-genes-are-a-significant-cause-of-fetal-structural-anomalies","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2026\/02\/25\/inherited-variants-in-autosomal-dominant-disease-genes-are-a-significant-cause-of-fetal-structural-anomalies\/","title":{"rendered":"Inherited variants in autosomal dominant disease genes are a significant cause of fetal structural anomalies"},"content":{"rendered":"

In a cohort of 1,185 fetuses with structural anomalies undergoing prenatal exome sequencing, inherited variants in autosomal dominant disease genes accounted for 11.5% of diagnoses and conferred a recurrence risk in nearly one in five families. Often overlooked by standard filtering strategies, these findings have important implications for genetic counselling, parental assessment and the design of prenatal genomic services. Please see the study by Graham et al. https:\/\/jmg.bmj.com\/content\/early\/2026\/02\/25\/jmg-2025-111301<\/a><\/p>\n","protected":false},"excerpt":{"rendered":"

In a cohort of 1,185 fetuses with structural anomalies undergoing prenatal exome sequencing, inherited variants in autosomal dominant disease genes accounted for 11.5% of diagnoses and conferred a recurrence risk in nearly one in five families. Often overlooked by standard filtering strategies, these findings have important implications for genetic counselling, parental assessment and the design […]<\/p>\n

Read More…<\/a><\/p>\n","protected":false},"author":123,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-2151","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"\nInherited variants in autosomal dominant disease genes are a significant cause of fetal structural anomalies - JMG Contact blog<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/blogs.bmj.com\/jmg\/2026\/02\/25\/inherited-variants-in-autosomal-dominant-disease-genes-are-a-significant-cause-of-fetal-structural-anomalies\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Inherited variants in autosomal dominant disease genes are a significant cause of fetal structural anomalies - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"In a cohort of 1,185 fetuses with structural anomalies undergoing prenatal exome sequencing, inherited variants in autosomal dominant disease genes accounted for 11.5% of diagnoses and conferred a recurrence risk in nearly one in five families. Often overlooked by standard filtering strategies, these findings have important implications for genetic counselling, parental assessment and the design [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2026\/02\/25\/inherited-variants-in-autosomal-dominant-disease-genes-are-a-significant-cause-of-fetal-structural-anomalies\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2026-02-25T21:23:48+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-25T21:25:09+00:00\" \/>\n<meta name=\"author\" content=\"hqqu\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:creator\" content=\"@HuiQiQu\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"hqqu\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"1 minute\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2026\\\/02\\\/25\\\/inherited-variants-in-autosomal-dominant-disease-genes-are-a-significant-cause-of-fetal-structural-anomalies\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2026\\\/02\\\/25\\\/inherited-variants-in-autosomal-dominant-disease-genes-are-a-significant-cause-of-fetal-structural-anomalies\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Inherited variants in autosomal dominant disease genes are a significant cause of fetal structural anomalies\",\"datePublished\":\"2026-02-25T21:23:48+00:00\",\"dateModified\":\"2026-02-25T21:25:09+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2026\\\/02\\\/25\\\/inherited-variants-in-autosomal-dominant-disease-genes-are-a-significant-cause-of-fetal-structural-anomalies\\\/\"},\"wordCount\":88,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2026\\\/02\\\/25\\\/inherited-variants-in-autosomal-dominant-disease-genes-are-a-significant-cause-of-fetal-structural-anomalies\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2026\\\/02\\\/25\\\/inherited-variants-in-autosomal-dominant-disease-genes-are-a-significant-cause-of-fetal-structural-anomalies\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2026\\\/02\\\/25\\\/inherited-variants-in-autosomal-dominant-disease-genes-are-a-significant-cause-of-fetal-structural-anomalies\\\/\",\"name\":\"Inherited variants in autosomal dominant disease genes are a significant cause of fetal structural anomalies - JMG Contact blog\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#website\"},\"datePublished\":\"2026-02-25T21:23:48+00:00\",\"dateModified\":\"2026-02-25T21:25:09+00:00\",\"breadcrumb\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2026\\\/02\\\/25\\\/inherited-variants-in-autosomal-dominant-disease-genes-are-a-significant-cause-of-fetal-structural-anomalies\\\/#breadcrumb\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"ReadAction\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2026\\\/02\\\/25\\\/inherited-variants-in-autosomal-dominant-disease-genes-are-a-significant-cause-of-fetal-structural-anomalies\\\/\"]}]},{\"@type\":\"BreadcrumbList\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2026\\\/02\\\/25\\\/inherited-variants-in-autosomal-dominant-disease-genes-are-a-significant-cause-of-fetal-structural-anomalies\\\/#breadcrumb\",\"itemListElement\":[{\"@type\":\"ListItem\",\"position\":1,\"name\":\"Home\",\"item\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/\"},{\"@type\":\"ListItem\",\"position\":2,\"name\":\"Inherited variants in autosomal dominant disease genes are a significant cause of fetal structural anomalies\"}]},{\"@type\":\"WebSite\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#website\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/\",\"name\":\"JMG Contact blog\",\"description\":\"JMG Contact blog\",\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"potentialAction\":[{\"@type\":\"SearchAction\",\"target\":{\"@type\":\"EntryPoint\",\"urlTemplate\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/?s={search_term_string}\"},\"query-input\":{\"@type\":\"PropertyValueSpecification\",\"valueRequired\":true,\"valueName\":\"search_term_string\"}}],\"inLanguage\":\"en-US\"},{\"@type\":\"Organization\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\",\"name\":\"JMG Contact blog\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/\",\"logo\":{\"@type\":\"ImageObject\",\"inLanguage\":\"en-US\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/logo\\\/image\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2017\\\/10\\\/blog-logo-jmg.png\",\"contentUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2017\\\/10\\\/blog-logo-jmg.png\",\"width\":300,\"height\":34,\"caption\":\"JMG Contact blog\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/logo\\\/image\\\/\"}},{\"@type\":\"Person\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\",\"name\":\"hqqu\",\"image\":{\"@type\":\"ImageObject\",\"inLanguage\":\"en-US\",\"@id\":\"https:\\\/\\\/secure.gravatar.com\\\/avatar\\\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g\",\"url\":\"https:\\\/\\\/secure.gravatar.com\\\/avatar\\\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g\",\"contentUrl\":\"https:\\\/\\\/secure.gravatar.com\\\/avatar\\\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g\",\"caption\":\"hqqu\"},\"description\":\"Huiqi Qu has a background as a physician trained in internal medicine and a PhD in Experimental Medicine (Endocrinology). His research applies human genetics and multi-omics to complex and pediatric diseases, including GWAS, polygenic risk scores (PRS), single-cell transcriptomics, and integrative genomics to support precision medicine and clinical translation.\",\"sameAs\":[\"https:\\\/\\\/x.com\\\/HuiQiQu\"],\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/author\\\/hqiqu\\\/\"}]}<\/script>\n<!-- \/ Yoast SEO plugin. -->","yoast_head_json":{"title":"Inherited variants in autosomal dominant disease genes are a significant cause of fetal structural anomalies - JMG Contact blog","robots":{"index":"index","follow":"follow","max-snippet":"max-snippet:-1","max-image-preview":"max-image-preview:large","max-video-preview":"max-video-preview:-1"},"canonical":"https:\/\/blogs.bmj.com\/jmg\/2026\/02\/25\/inherited-variants-in-autosomal-dominant-disease-genes-are-a-significant-cause-of-fetal-structural-anomalies\/","og_locale":"en_US","og_type":"article","og_title":"Inherited variants in autosomal dominant disease genes are a significant cause of fetal structural anomalies - JMG Contact blog","og_description":"In a cohort of 1,185 fetuses with structural anomalies undergoing prenatal exome sequencing, inherited variants in autosomal dominant disease genes accounted for 11.5% of diagnoses and conferred a recurrence risk in nearly one in five families. Often overlooked by standard filtering strategies, these findings have important implications for genetic counselling, parental assessment and the design [...]Read More...","og_url":"https:\/\/blogs.bmj.com\/jmg\/2026\/02\/25\/inherited-variants-in-autosomal-dominant-disease-genes-are-a-significant-cause-of-fetal-structural-anomalies\/","og_site_name":"JMG Contact blog","article_published_time":"2026-02-25T21:23:48+00:00","article_modified_time":"2026-02-25T21:25:09+00:00","author":"hqqu","twitter_card":"summary_large_image","twitter_creator":"@HuiQiQu","twitter_misc":{"Written by":"hqqu","Est. reading time":"1 minute"},"schema":{"@context":"https:\/\/schema.org","@graph":[{"@type":"Article","@id":"https:\/\/blogs.bmj.com\/jmg\/2026\/02\/25\/inherited-variants-in-autosomal-dominant-disease-genes-are-a-significant-cause-of-fetal-structural-anomalies\/#article","isPartOf":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2026\/02\/25\/inherited-variants-in-autosomal-dominant-disease-genes-are-a-significant-cause-of-fetal-structural-anomalies\/"},"author":{"name":"hqqu","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/person\/be0250f8d5b52412c3e7c222dabd591b"},"headline":"Inherited variants in autosomal dominant disease genes are a significant cause of fetal structural anomalies","datePublished":"2026-02-25T21:23:48+00:00","dateModified":"2026-02-25T21:25:09+00:00","mainEntityOfPage":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2026\/02\/25\/inherited-variants-in-autosomal-dominant-disease-genes-are-a-significant-cause-of-fetal-structural-anomalies\/"},"wordCount":88,"commentCount":0,"publisher":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#organization"},"inLanguage":"en-US","potentialAction":[{"@type":"CommentAction","name":"Comment","target":["https:\/\/blogs.bmj.com\/jmg\/2026\/02\/25\/inherited-variants-in-autosomal-dominant-disease-genes-are-a-significant-cause-of-fetal-structural-anomalies\/#respond"]}]},{"@type":"WebPage","@id":"https:\/\/blogs.bmj.com\/jmg\/2026\/02\/25\/inherited-variants-in-autosomal-dominant-disease-genes-are-a-significant-cause-of-fetal-structural-anomalies\/","url":"https:\/\/blogs.bmj.com\/jmg\/2026\/02\/25\/inherited-variants-in-autosomal-dominant-disease-genes-are-a-significant-cause-of-fetal-structural-anomalies\/","name":"Inherited variants in autosomal dominant disease genes are a significant cause of fetal structural anomalies - JMG Contact blog","isPartOf":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#website"},"datePublished":"2026-02-25T21:23:48+00:00","dateModified":"2026-02-25T21:25:09+00:00","breadcrumb":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2026\/02\/25\/inherited-variants-in-autosomal-dominant-disease-genes-are-a-significant-cause-of-fetal-structural-anomalies\/#breadcrumb"},"inLanguage":"en-US","potentialAction":[{"@type":"ReadAction","target":["https:\/\/blogs.bmj.com\/jmg\/2026\/02\/25\/inherited-variants-in-autosomal-dominant-disease-genes-are-a-significant-cause-of-fetal-structural-anomalies\/"]}]},{"@type":"BreadcrumbList","@id":"https:\/\/blogs.bmj.com\/jmg\/2026\/02\/25\/inherited-variants-in-autosomal-dominant-disease-genes-are-a-significant-cause-of-fetal-structural-anomalies\/#breadcrumb","itemListElement":[{"@type":"ListItem","position":1,"name":"Home","item":"https:\/\/blogs.bmj.com\/jmg\/"},{"@type":"ListItem","position":2,"name":"Inherited variants in autosomal dominant disease genes are a significant cause of fetal structural anomalies"}]},{"@type":"WebSite","@id":"https:\/\/blogs.bmj.com\/jmg\/#website","url":"https:\/\/blogs.bmj.com\/jmg\/","name":"JMG Contact blog","description":"JMG Contact blog","publisher":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#organization"},"potentialAction":[{"@type":"SearchAction","target":{"@type":"EntryPoint","urlTemplate":"https:\/\/blogs.bmj.com\/jmg\/?s={search_term_string}"},"query-input":{"@type":"PropertyValueSpecification","valueRequired":true,"valueName":"search_term_string"}}],"inLanguage":"en-US"},{"@type":"Organization","@id":"https:\/\/blogs.bmj.com\/jmg\/#organization","name":"JMG Contact blog","url":"https:\/\/blogs.bmj.com\/jmg\/","logo":{"@type":"ImageObject","inLanguage":"en-US","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/logo\/image\/","url":"https:\/\/blogs.bmj.com\/jmg\/files\/2017\/10\/blog-logo-jmg.png","contentUrl":"https:\/\/blogs.bmj.com\/jmg\/files\/2017\/10\/blog-logo-jmg.png","width":300,"height":34,"caption":"JMG Contact blog"},"image":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/logo\/image\/"}},{"@type":"Person","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/person\/be0250f8d5b52412c3e7c222dabd591b","name":"hqqu","image":{"@type":"ImageObject","inLanguage":"en-US","@id":"https:\/\/secure.gravatar.com\/avatar\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g","url":"https:\/\/secure.gravatar.com\/avatar\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g","contentUrl":"https:\/\/secure.gravatar.com\/avatar\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g","caption":"hqqu"},"description":"Huiqi Qu has a background as a physician trained in internal medicine and a PhD in Experimental Medicine (Endocrinology). His research applies human genetics and multi-omics to complex and pediatric diseases, including GWAS, polygenic risk scores (PRS), single-cell transcriptomics, and integrative genomics to support precision medicine and clinical translation.","sameAs":["https:\/\/x.com\/HuiQiQu"],"url":"https:\/\/blogs.bmj.com\/jmg\/author\/hqiqu\/"}]}},"_links":{"self":[{"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/2151","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/users\/123"}],"replies":[{"embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/comments?post=2151"}],"version-history":[{"count":0,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/2151\/revisions"}],"wp:attachment":[{"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=2151"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=2151"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=2151"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}