{"id":3526,"date":"2022-01-14T14:07:41","date_gmt":"2022-01-14T13:07:41","guid":{"rendered":"https:\/\/genomik-tuebingen.de\/?p=3526"},"modified":"2023-12-19T10:43:04","modified_gmt":"2023-12-19T09:43:04","slug":"studie-praenatale-trio-exom-sequenzierung","status":"publish","type":"post","link":"https:\/\/cegat.com\/de\/studie-praenatale-trio-exom-sequenzierung\/","title":{"rendered":"Studie: Pr\u00e4natale Trio-Exom-Sequenzierung kl\u00e4rt Ultraschallanomalien mit einer L\u00f6sungsrate von 38%"},"content":{"rendered":"<div class=\"fusion-fullwidth fullwidth-box fusion-builder-row-1 fusion-flex-container has-pattern-background has-mask-background nonhundred-percent-fullwidth non-hundred-percent-height-scrolling\" style=\"--awb-border-radius-top-left:0px;--awb-border-radius-top-right:0px;--awb-border-radius-bottom-right:0px;--awb-border-radius-bottom-left:0px;--awb-flex-wrap:wrap;\" ><div class=\"fusion-builder-row fusion-row fusion-flex-align-items-flex-start fusion-flex-content-wrap\" style=\"max-width:1248px;margin-left: calc(-4% \/ 2 );margin-right: calc(-4% \/ 2 );\"><div class=\"fusion-layout-column fusion_builder_column fusion-builder-column-0 fusion_builder_column_1_1 1_1 fusion-flex-column\" style=\"--awb-bg-size:cover;--awb-width-large:100%;--awb-margin-top-large:0px;--awb-spacing-right-large:1.92%;--awb-margin-bottom-large:0px;--awb-spacing-left-large:1.92%;--awb-width-medium:100%;--awb-order-medium:0;--awb-spacing-right-medium:1.92%;--awb-spacing-left-medium:1.92%;--awb-width-small:100%;--awb-order-small:0;--awb-spacing-right-small:1.92%;--awb-spacing-left-small:1.92%;\"><div class=\"fusion-column-wrapper fusion-column-has-shadow fusion-flex-justify-content-flex-start fusion-content-layout-column\"><div class=\"fusion-text fusion-text-1\"><p style=\"text-align: justify;\"><strong>Die pr\u00e4natale Trio-Exom-Analyse ist eine hoch sensitive Methode zur Abkl\u00e4rung fetaler Ultraschallauff\u00e4lligkeiten. Die hohe Relevanz dieser Methode f\u00fcr die vorgeburtliche Diagnostik konnten wir anhand unserer mehr als 500 F\u00e4lle umfassenden Studie aufzeigen. Eine genetische Ursache f\u00fcr den auff\u00e4lligen fetalen Ultraschall konnte in 38 % aller pr\u00e4natalen Trio-Exom-Analysen identifiziert werden. <\/strong><\/p>\n<p style=\"text-align: justify;\">Bereits vor der Geburt (pr\u00e4natal) k\u00f6nnen im Ultraschall fetale Auff\u00e4lligkeiten entdeckt werden. Die Abkl\u00e4rung solcher fetaler Ultraschallanomalien mittels Trio-Exom-Sequenzierung ist Gegenstand unserer neuesten Forschung. Die Trio-Exom-Sequenzierung wird bereits standardm\u00e4\u00dfig in der postnatalen Diagnostik eingesetzt und \u00fcberzeugt auch in der pr\u00e4natalen Diagnostik mit einer hohen diagnostischen Ausbeute und schnellen Ergebnissen:<\/p>\n<ul style=\"text-align: justify;\">\n<li>Bei 189 von 500 Feten wurden pathogene Varianten in 127 verschiedenen Genen nachgewiesen.<\/li>\n<li>In 38% der F\u00e4lle konnte die genetische Ursache der Ultraschallanomalie mittels der Trio-Exom-Sequenzierung identifiziert werden.<\/li>\n<li>Die L\u00f6sungsraten reichten von 19 % f\u00fcr Anomalien der inneren Organe bis hin zu 52 % f\u00fcr Skelettfehlbildungen.<\/li>\n<li>In 47% davon wurden krankheitsverursachende <em>de novo<\/em> Varianten (\u201eNeumutationen\u201c) gefunden.<\/li>\n<li>In 37% wurden krankheitsverursachende Varianten in Genen mit autosomal-rezessivem oder X-chromosomalem Erbgang nachgewiesen. Der Nachweis dieser Varianten ist aufgrund der hohen Wiederholungswahrscheinlichkeit f\u00fcr weitere Schwangerschaften von gro\u00dfer Bedeutung.<\/li>\n<\/ul>\n<p style=\"text-align: justify;\">Die Ergebnisse unserer umfangreichen Studie zeigen, dass die Trio-Exom-Sequenzierung eine effektive Methode zur Bewertung fetaler Anomalien ist. Pr\u00e4natale Trio-Exom-Befunde liefern zudem entscheidende Informationen f\u00fcr eine gezielte Beratung des schwangeren Paares hinsichtlich Diagnose, Prognose und Wiederholungswahrscheinlichkeit f\u00fcr zuk\u00fcnftige Schwangerschaften. Die pr\u00e4natale Trio-Exom-Analyse ist damit eine wichtige Erg\u00e4nzung zu den bestehenden M\u00f6glichkeiten der genetischen Pr\u00e4nataldiagnostik (Aneuploidie-Screening, NIPT, Chromosomenanalyse, Microarray-Diagnostik).<\/p>\n<p style=\"text-align: justify;\">Sie finden die Ver\u00f6ffentlichung mit dem Titel \u201eTrio exome sequencing is highly relevant in prenatal diagnostics\u201c <a href=\"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/epdf\/10.1002\/pd.6081\" target=\"_blank\" rel=\"noreferrer noopener\">hier<\/a>.<\/p>\n<p style=\"text-align: justify;\">F\u00fcr weitere Informationen stehen wir Ihnen unter <a href=\"mailto:sales@cegat.com\">sales@cegat.com<\/a> gerne beratend zur Seite.<\/p>\n<\/div><div class=\"fusion-separator fusion-full-width-sep\" style=\"align-self: center;margin-left: auto;margin-right: auto;margin-bottom:30px;width:100%;\"><\/div><div ><a class=\"fusion-button button-flat fusion-button-default-size button-custom fusion-button-default button-1 fusion-button-default-span fusion-button-default-type\" style=\"--button_accent_color:var(--awb-color6);--button_border_color:rgba(0,0,0,0.5);--button_accent_hover_color:var(--awb-color5);--button_border_hover_color:#e1e1e1;--button_border_width-top:1px;--button_border_width-right:1px;--button_border_width-bottom:1px;--button_border_width-left:1px;--button_gradient_top_color:rgba(225,225,225,0);--button_gradient_bottom_color:rgba(225,225,225,0);--button_gradient_top_color_hover:var(--awb-color7);--button_gradient_bottom_color_hover:var(--awb-color7);\" target=\"_self\" href=\"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/epdf\/10.1002\/pd.6081\"><span class=\"fusion-button-text awb-button__text awb-button__text--default\">Zur Ver\u00f6ffentlichung<\/span><\/a><\/div><\/div><\/div><\/div><\/div>\n","protected":false},"excerpt":{"rendered":"","protected":false},"author":18,"featured_media":35256,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[47,112],"tags":[],"class_list":["post-3526","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-diagnostik-category","category-news"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.4 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Studie: Pr\u00e4natale Trio-Exom-Sequenzierung kl\u00e4rt Ultraschallanomalien mit einer L\u00f6sungsrate von 38%<\/title>\n<meta name=\"description\" content=\"Die pr\u00e4natale Trio-Exom-Analyse ist eine hoch sensitive Methode zur Abkl\u00e4rung fetaler Ultraschallauff\u00e4lligkeiten.\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, 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