{"id":291,"date":"2024-01-04T16:03:00","date_gmt":"2024-01-04T16:03:00","guid":{"rendered":"https:\/\/sebgc.es\/blog\/?p=291"},"modified":"2024-01-09T00:05:58","modified_gmt":"2024-01-09T00:05:58","slug":"proof-of-concept-study-presents-a-blood-test-that-can-identify-genetic-diseases-in-fetuses","status":"publish","type":"post","link":"https:\/\/sebigec.es\/blog\/index.php\/2024\/01\/04\/proof-of-concept-study-presents-a-blood-test-that-can-identify-genetic-diseases-in-fetuses\/","title":{"rendered":"Proof-of-concept study presents a blood test that can identify genetic diseases in fetuses"},"content":{"rendered":"\n<ul class=\"wp-block-list\" id=\"js-soc-panel\">\n<li><a href=\"javascript:void(0)\">28<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/medicalxpress.com\/news\/2024-01-proof-concept-blood-genetic-diseases.html#\">Twit<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/medicalxpress.com\/news\/2024-01-proof-concept-blood-genetic-diseases.html#\">Share<\/a><\/li>\n\n\n\n<li><a href=\"mailto:\">Email<\/a><\/li>\n<\/ul>\n\n\n\n<ol class=\"wp-block-list\">\n<li><a href=\"https:\/\/medicalxpress.com\/\">Home<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/medicalxpress.com\/genetics-news\/\">Genetics<\/a><\/li>\n<\/ol>\n\n\n\n<ol class=\"wp-block-list\">\n<li><a href=\"https:\/\/medicalxpress.com\/\">Home<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/medicalxpress.com\/obstetrics-gynaecology-news\/\">Obstetrics &amp; gynaecology<\/a><\/li>\n<\/ol>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"javascript:void(0)\"><\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/medicalxpress.com\/news\/2024-01-proof-concept-blood-genetic-diseases.pdf\"><\/a><\/li>\n\n\n\n<li><a href=\"javascript:window.print()\"><\/a><\/li>\n<\/ul>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<p><a href=\"https:\/\/medicalxpress.com\/archive\/04-01-2024\/\"><\/a><\/p>\n\n\n\n<p>JANUARY 4, 2024<\/p>\n\n\n\n<p><a href=\"javascript:void(0)\">&nbsp;Editors&#8217; notes<\/a><\/p>\n\n\n\n<h1 class=\"wp-block-heading\">Proof-of-concept study presents a blood test that can identify genetic diseases in fetuses<\/h1>\n\n\n\n<p>by&nbsp;<a href=\"http:\/\/www.sdu.dk\/\" target=\"_blank\" rel=\"noreferrer noopener\">University of Southern Denmark<\/a><\/p>\n\n\n\n<p>A research team from Odense University Hospital and the University of Southern Denmark has developed an innovative screening test. With a blood sample from the expectant mother, they can scrutinize all the genes in the fetus.<\/p>\n\n\n\n<p>In the recently&nbsp;<a href=\"https:\/\/www.nejm.org\/doi\/10.1056\/NEJMc2307918\">published<\/a>&nbsp;results of the research project in the&nbsp;<em>New England Journal of Medicine<\/em>, the researchers analyzed blood samples from 36 pregnant women. The findings indicate that the&nbsp;<a href=\"https:\/\/medicalxpress.com\/tags\/new+test\/\">new test<\/a>, named desNIPT, has demonstrated effectiveness in identifying alterations in fetal genes\u2014a leading factor in severe congenital diseases.<\/p>\n\n\n\n<p>\u00abWith our novel approach, we can now screen for the majority of known serious genetic syndromes using a&nbsp;<a href=\"https:\/\/medicalxpress.com\/tags\/simple+blood+test\/\">simple blood test<\/a>&nbsp;from the pregnant woman. Typically, this would otherwise require resorting to chorionic villus sampling or amniocentesis,\u00bb states Ieva Miceikait\u00e9 from the Department of Clinical Research, University of Southern Denmark.<\/p>\n\n\n\n<p>\u00abThis implies that we now possess enhanced opportunities to pinpoint the genetic cause of developmental issues in the fetus,\u00bb she adds.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">First-generation NIPT test<\/h2>\n\n\n\n<p>desNIPT represents an evolution of the first-generation NIPT (Non-Invasive Prenatal Test) method, enhancing it with significant improvements. NIPT involves conducting the test without requiring chorionic villus sampling or amniocentesis, and it is administered prior to childbirth.<\/p>\n\n\n\n<p>In this approach, the fetal DNA found in the bloodstream of the pregnant woman is scrutinized, fundamentally transforming the capacity to screen for diseases in unborn children in recent years.<\/p>\n\n\n\n<p>DNA is released into the mother&#8217;s bloodstream through the placenta. Thanks to the remarkable sensitivity of the desNIPT test, researchers can now identify genetic abnormalities in the fetus even when the quantity of fetal DNA in the mother&#8217;s blood is minimal.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">Genetic disorders in fetuses can be identified through analysis of the mother&#8217;s blood<\/h2>\n\n\n\n<p>At present, the first-generation Non-Invasive Prenatal Test (NIPT) is employed to screen the fetus for prevalent chromosomal disorders, predominantly focusing on conditions such as Down syndrome and a few others resulting from notable chromosomal alterations.<\/p>\n\n\n\n<p>\u00abNevertheless, numerous congenital diseases arise from more subtle modifications in fetal DNA. To identify these, it is essential to examine all genes within the fetal genome,\u00bb explains Miceikait\u00e9.<\/p>\n\n\n\n<p>\u00abThis&nbsp;<a href=\"https:\/\/medicalxpress.com\/tags\/screening\/\">screening<\/a>, referred to as exome sequencing, is presently limited to pregnancies where indications of abnormalities are noted during ultrasound scans. This restriction stems from the fact that the analysis currently necessitates either chorionic villus sampling or amniocentesis, both procedures associated with discomfort and a slight risk of miscarriage. As a result, numerous severe genetic syndromes frequently go undetected until after birth.\u00bb<\/p>\n\n\n\n<p>\u00abOur objective was to enhance non-invasive screening options for pregnant women. The new desNIPT test integrates the benefits of NIPT and exome sequencing, delivering comprehensive insights through a more straightforward test.\u00bb<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">Achieving identical results with the more straightforward test.<\/h2>\n\n\n\n<p>Alongside her fellow researchers, Miceikait\u00e9 monitored 36 pregnant women, analyzing blood samples taken during the 1st or 2nd trimester. In each pregnancy, ultrasound scans revealed signs indicative of a potentially serious genetic disease in the fetus.<\/p>\n\n\n\n<p>Out of the 36 pregnancies, newly arising disease-causing alterations in the unborn child were identified in a total of 11 cases. Subsequently, the results from the desNIPT analysis were compared with those from conventional exome sequencing conducted through chorionic villus sampling or amniocentesis.<\/p>\n\n\n\n<p>\u00abThe novel approach to screening pregnant women has been remarkably successful,\u00bb states Miceikait\u00e9. \u00abWhen applying the new analytical method, we successfully identified all gene variants responsible for diseases that were previously detected through invasive fetal examinations. In this regard, it has demonstrated comparable effectiveness to these invasive procedures.\u00bb<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">Promising future for prenatal screening<\/h2>\n\n\n\n<p>\u00abThe test opens the possibility of screening for many more genetic diseases in the future, including those that cannot be revealed by ultrasound scans,\u00bb explains Martin Larsen, leader of the project and associate professor at the Department of Clinical Research, University of Southern Denmark.<\/p>\n\n\n\n<p>He envisions significant potential in deploying the test as a screening tool in conjunction with ultrasound examinations\u2014the prevailing standard for all pregnant women\u2014to guarantee a more thorough screening of expectant mothers before childbirth.<\/p>\n\n\n\n<p>One notable challenge with numerous screening tests is their inconsistent precision, frequently resulting in unwarranted follow-up diagnostic examinations.<\/p>\n\n\n\n<p>\u00abWe are highly optimistic as the study indicates that the desNIPT test is remarkably accurate. In the examined pregnant women, we did not observe any false-positive results,\u00bb states Larsen.<\/p>\n\n\n\n<p>Since this is a \u00abproof-of-concept\u00bb study, the test needs validation in a larger study before it can be made available to&nbsp;<a href=\"https:\/\/medicalxpress.com\/tags\/pregnant+women\/\">pregnant women<\/a>.<\/p>\n\n\n\n<p>\u00abAt the outset, our aim was to establish the feasibility of sequencing the fetus&#8217;s genes through a&nbsp;<a href=\"https:\/\/medicalxpress.com\/tags\/blood+sample\/\">blood sample<\/a>&nbsp;from the&nbsp;<a href=\"https:\/\/medicalxpress.com\/tags\/pregnant+woman\/\">pregnant woman<\/a>. Presently, our focus is on validating the test through a larger study, as well as refining and scaling the methodology,\u00bb states Larsen.<\/p>\n\n\n\n<p><strong>More information:<\/strong>&nbsp;Ieva Miceikait\u0117 et al, Comprehensive Noninvasive Fetal Screening by Deep Trio-Exome Sequencing,&nbsp;<em>New England Journal of Medicine<\/em>&nbsp;(2023).&nbsp;<a href=\"https:\/\/dx.doi.org\/10.1056\/NEJMc2307918\" target=\"_blank\" rel=\"noreferrer noopener\">DOI: 10.1056\/NEJMc2307918<\/a><\/p>\n\n\n\n<p><strong>Journal information:<\/strong>\u00a0<a href=\"https:\/\/medicalxpress.com\/journals\/new-england-journal-of-medicine\/\">New England Journal of Medicine<\/a>\u00a0<\/p>\n\n\n\n<p><\/p>\n\n\n\n<p>Un sencillo an\u00e1lisis de sangre puede identificar enfermedades gen\u00e9ticas en los fetos<\/p>\n\n\n\n<p>Noticia en espa\u00f1ol:<br>Un equipo de investigadores del Hospital Universitario de Odense y la Universidad del Sur de Dinamarca ha desarrollado una innovadora prueba de detecci\u00f3n: con una muestra de sangre de la futura madre, pueden escrutar todos los genes del feto e identificar alteraciones.<br><br>Leer m\u00e1s:\u00a0<a href=\"https:\/\/www.infosalus.com\/asistencia\/noticia-sencillo-analisis-sangre-puede-identificar-enfermedades-geneticas-fetos-20240108072448.html\">https:\/\/www.infosalus.com\/asistencia\/noticia-sencillo-analisis-sangre-puede-identificar-enfermedades-geneticas-fetos-20240108072448.html<\/a><br><br>(c) 2024 Europa Press. Est\u00e1 expresamente prohibida la redistribuci\u00f3n y la redifusi\u00f3n de este contenido sin su previo y expreso consentimiento.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>JANUARY 4, 2024 &nbsp;Editors&#8217; notes Proof-of-concept study presents a blood test that can identify genetic diseases in fetuses by&nbsp;University of Southern Denmark A research team from Odense University Hospital and the University of Southern Denmark has developed an innovative screening test. With a blood sample from the expectant mother, they can scrutinize all the genes [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":292,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[20,17,5],"tags":[27],"class_list":["post-291","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-infosalus","category-medicalxpress","category-noticias","tag-genetic-diseases"],"_links":{"self":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/291","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\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/comments?post=291"}],"version-history":[{"count":1,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/291\/revisions"}],"predecessor-version":[{"id":293,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/291\/revisions\/293"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/media\/292"}],"wp:attachment":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/media?parent=291"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/categories?post=291"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/tags?post=291"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}