{"id":28532,"date":"2023-02-16T11:07:58","date_gmt":"2023-02-16T10:07:58","guid":{"rendered":"https:\/\/www.cenata.de\/?p=28532"},"modified":"2023-12-08T09:52:01","modified_gmt":"2023-12-08T08:52:01","slug":"latest-publication-screen-positive-rate-in-cell-free-dna-screening-for-microdeletion-22q11-2","status":"publish","type":"post","link":"https:\/\/www.cenata.de\/en\/latest-publication-screen-positive-rate-in-cell-free-dna-screening-for-microdeletion-22q11-2\/","title":{"rendered":"Latest publication: Screen-positive rate in cell-free DNA screening for microdeletion 22q11.2"},"content":{"rendered":"<p>In a recent study, published in February 2023 in Prenatal Diagnosis, we investigated in collaboration with Prof. Kagan (University Women&rsquo;s Hospital Tuebingen) the correlation between the screen-positive rate and the <a href=\"https:\/\/www.cenata.de\/en\/encyclopedia\/fetal\/\" target=\"_self\" title=\"Relating to the unborn child\" class=\"encyclopedia\">fetal<\/a> fraction (proportion of cell-free <a href=\"https:\/\/www.cenata.de\/en\/encyclopedia\/fetal\/\" target=\"_self\" title=\"Relating to the unborn child\" class=\"encyclopedia\">fetal<\/a> <a href=\"https:\/\/www.cenata.de\/en\/encyclopedia\/dna\/\" target=\"_self\" title=\"Deoxyribonucleic acid: biomolecule and carrier of genetic information\" class=\"encyclopedia\">DNA<\/a>) when screening for <a href=\"https:\/\/www.cenata.de\/en\/encyclopedia\/microdeletion\/\" target=\"_self\" title='A microdeletion is the loss of a small section of DNA that is not visible under the microscope. The loss typically comprises a few million bases and can only be detected with special techniques. In most cases, a microdeletion leads to a \"contiguous gene syndrome\", as several neighbouring genes are affected by the loss of&hellip;' class=\"encyclopedia\">microdeletion<\/a> 22q11.2 (<a href=\"https:\/\/www.cenata.de\/en\/encyclopedia\/digeorge-syndrome\/\" target=\"_self\" title='DiGeorge syndrome is caused by a microscopically invisible loss (\"microdeletion\") of approximately 3 million bases (Mb) in chromosome 22. The clinical expression of DiGeorge syndrome varies depending on the amount of loss of genetic information and the area of the deletion.' class=\"encyclopedia\">DiGeorge syndrome<\/a>).<\/p>\n<p>We analyzed own data from more than 50,000 singleton pregnancies.<\/p>\n<p>The results of our study show a significant inverse correlation between the <a href=\"https:\/\/www.cenata.de\/en\/encyclopedia\/fetal\/\" target=\"_self\" title=\"Relating to the unborn child\" class=\"encyclopedia\">fetal<\/a> fraction and the screen-positive rate.<br>\nIn samples with a <a href=\"https:\/\/www.cenata.de\/en\/encyclopedia\/fetal\/\" target=\"_self\" title=\"Relating to the unborn child\" class=\"encyclopedia\">fetal<\/a> fraction below 11%, the positive rate was 0.93%, while in samples with a <a href=\"https:\/\/www.cenata.de\/en\/encyclopedia\/fetal\/\" target=\"_self\" title=\"Relating to the unborn child\" class=\"encyclopedia\">fetal<\/a> fraction above 11% it was only 0.13%.<\/p>\n<p>You can view the entire study <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/36738442\/\" target=\"_blank\" rel=\"noopener\"><u>here<\/u><\/a>.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>In a recent study, published in February 2023 in Prenatal Diagnosis, we investigated in collaboration with Prof. Kagan (University Women&#8217;s Hospital Tuebingen) the correlation between the screen-positive rate and the fetal fraction (proportion of cell-free fetal DNA) when screening for microdeletion 22q11.2 (DiGeorge syndrome). We analyzed own data from more than 50,000 singleton pregnancies. The [&hellip;]<\/p>\n","protected":false},"author":10,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"site-sidebar-layout":"default","site-content-layout":"default","ast-site-content-layout":"default","site-content-style":"default","site-sidebar-style":"default","ast-global-header-display":"","ast-banner-title-visibility":"","ast-main-header-display":"","ast-hfb-above-header-display":"","ast-hfb-below-header-display":"","ast-hfb-mobile-header-display":"","site-post-title":"","ast-breadcrumbs-content":"","ast-featured-img":"","footer-sml-layout":"","ast-disable-related-posts":"","theme-transparent-header-meta":"default","adv-header-id-meta":"","stick-header-meta":"default","header-above-stick-meta":"","header-main-stick-meta":"","header-below-stick-meta":"","astra-migrate-meta-layouts":"default","ast-page-background-enabled":"default","ast-page-background-meta":{"desktop":{"background-color":"var(--ast-global-color-4)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"tablet":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"mobile":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""}},"ast-content-background-meta":{"desktop":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"tablet":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"mobile":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""}},"footnotes":""},"categories":[24],"tags":[],"class_list":["post-28532","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"_links":{"self":[{"href":"https:\/\/www.cenata.de\/en\/wp-json\/wp\/v2\/posts\/28532","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.cenata.de\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.cenata.de\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.cenata.de\/en\/wp-json\/wp\/v2\/users\/10"}],"replies":[{"embeddable":true,"href":"https:\/\/www.cenata.de\/en\/wp-json\/wp\/v2\/comments?post=28532"}],"version-history":[{"count":1,"href":"https:\/\/www.cenata.de\/en\/wp-json\/wp\/v2\/posts\/28532\/revisions"}],"predecessor-version":[{"id":28533,"href":"https:\/\/www.cenata.de\/en\/wp-json\/wp\/v2\/posts\/28532\/revisions\/28533"}],"wp:attachment":[{"href":"https:\/\/www.cenata.de\/en\/wp-json\/wp\/v2\/media?parent=28532"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.cenata.de\/en\/wp-json\/wp\/v2\/categories?post=28532"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.cenata.de\/en\/wp-json\/wp\/v2\/tags?post=28532"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}