{"id":14987,"date":"2023-08-01T11:06:47","date_gmt":"2023-08-01T11:06:47","guid":{"rendered":"https:\/\/jurmed.ro\/medici\/?p=14987"},"modified":"2023-08-01T11:06:47","modified_gmt":"2023-08-01T11:06:47","slug":"romanii-au-nevoie-de-extinderea-screening-ului-neonatal-pentru-boli-rare","status":"publish","type":"post","link":"https:\/\/jurmed.ro\/medici\/romanii-au-nevoie-de-extinderea-screening-ului-neonatal-pentru-boli-rare\/","title":{"rendered":"Romanii au nevoie de extinderea screening-ului neonatal pentru boli rare"},"content":{"rendered":"<p><strong>Extinderea screening-ului neonatal pentru mai multe boli rare este o necesitate in Romania, <\/strong><strong>deoarece diagnosticarea timpurie poate preveni aparitia simptomelor sau poate intarzia progresia bolilor. In Roma<\/strong><strong>nia se face, <\/strong><strong>i<\/strong><strong>n acest moment, screening neonatal la nivel national doar pentru trei boli rare, cu toate ca <\/strong><strong>i<\/strong><strong>n lume exista peste 6.000 de boli rare diferite. <\/strong><strong>Screening<\/strong><strong>-ul<\/strong><strong> pentru nou-nascuti a fost tema celui de-al doilea webinar din seria Share Experience 2023<\/strong><strong>, organizat joi, 27 iulie, de Alianta Nationala pentru Boli Rare Rom<\/strong><strong>ania si Asociatia Romana de Cancere Rare.<\/strong><\/p>\n<p>Romania este una dintre tarile europene cu cel mai redus screening neonatal pentru boli rare \u2013 Italia are program de screening neonatal pentru 48 de astfel de afectiuni, Polonia pentru 30, Ungaria pentru 26, iar Slovacia pentru 23.<\/p>\n<p>Tara noastra ar avea nevoie de un program national de testare genetica, deoarece putini pacienti isi permit costurile necesare pentru a primi un diagnostic precis.<\/p>\n<p><em>\u201eInterventia timpurie poate preveni aparitia simptomelor bolii sau poate intarzia progresia bolii, imbunatatind calitatea vietii nou-nascutului, obtinand beneficii pentru pacienti, familiile lor si societate.\u00a0In prezent, nu exista consens cu privire la acces egal si uniformizarea screening-ului la nivel european si international, dar este foarte necesar sa facem advocacy pentru acest lucru.\u201d <\/em>spune Dorica Dan, presedinta Aliantei Nationale pentru Boli Rare din Romania si a Asociatiei Romane de Cancere Rare.<\/p>\n<p><a href=\"https:\/\/decisepoate.ro\/\">Bolile rare<\/a> sunt mult subdiagnosticate in Romania, inclusiv din cauza screening-ului neonatal foarte redus. Doar 8.000 de romani sunt diagnosticati in prezent cu o boala rara, cu toate ca se estimeaza ca un milion de persoane din tara noastra sunt afectate de o astfel de boala.<\/p>\n<p><em>\u201e<\/em><em>Screening<\/em><em>&#8211;<\/em><em>ul neonatal extins reprezinta unul dintre cele mai eficiente instrumente pentru diagnosticarea precoce a unui spectru larg de boli congenitale rare. Se estimeaza ca in Italia, <\/em><em>prin screening neonatal extins, <\/em><em>este identificat un nou-nascut afectat de boli metabolice rare la fiecare 1.500, adica peste 300 de copii pe an. Bebelusii care astazi pot fi identificati imediat datorita testului de screening neonatal extins au o viata mai buna.\u201d <\/em>spune Simona Bellagambi, vicepresedinta EURORDIS.<\/p>\n<p><em>\u201eIn Polonia<\/em><em>,<\/em><em> programul de screening neonatal a fost introdus inca din anii <\/em><em>&#8216;<\/em><em>60, cand nou-nascutii au fost testati<\/em><em>, ini<\/em><em>tial,<\/em><em> pentru fenilcetonurie. Apoi, acest program national s-a dezvoltat, pana in prezent<\/em><em>,<\/em><em> cu 30 de afectiuni incluse in screening<\/em><em>&#8211;<\/em><em>ul boli<\/em><em>lor rare, <\/em><em>ceea ce a plasat Polonia pe locul <\/em><em>al doilea<\/em> <em>in randul tuturor tarilor europene. Actualul program de screening al nou-nascutului a dus la detectarea a aproape 400 de copii cu afectiuni congenitale in fiecare an.<\/em><em>\u201d <\/em>spune dr. Jolanta Sykut-Cegielska, profesor asociat la Institutul Mamei si Copilului, Varsovia, Polonia.<\/p>\n<p>Universitatea de Medicina si Farmacie \u201eIuliu Hatieganu\u201d Cluj-Napoca a lansat, in primavara acestui an, un proiect pilot de screening neonatal extins pentru nou-nascutii din judetele Cluj, Bihor, Harghita, Maramures, Salaj, Sibiu si Satu Mare. Proiectul pilot vizeaza identificarea copiilor nascuti cu tulburari metabolice si se deruleaza in perioada 2023-2024.<\/p>\n<p><em>\u201e<\/em><em>Universitatea de Medicina si Farmacie din Cluj-Napoca a lansat anul acesta <\/em><em>primul program pilot de screening neonatal ex<\/em><em>t<\/em><em>ins din Romania<\/em><em> &#8211; <\/em><em>Imbunatatirea accesului la serviciile de sanatate preventiva prin dezvoltarea unui laborator analitic si a unui program pilot de screening neonatal pentru grupurile vulnerabile, inclusiv romii. 85% din proiect este finantat din granturile SEE si norvegiene si 15% de Ministerul Sanatatii din Roma<\/em><em>nia.\u201d <\/em>spune conf. dr. Cristina Adela Iuga, responsabila cu implementarea proiectului si director al Centrului de Cercetare pentru Medicina Avansata Future Med Cluj.<\/p>\n<p>Webinarul \u201eScreening pentru nou-nascuti\u201d este al doilea dintr-o serie de sase care se vor derula pana la finalul anului sub umbrela Share Experience 2023.<\/p>\n<p><a href=\"https:\/\/jurmed.ro\/medici\/in-tratamentul-bolilor-rare-si-cancerelor-rare-instruirea-permanenta-a-specialistilor-este-esentiala\/\">Share Experience<\/a> 2023 este un proiect derulat de Alianta Nationala pentru Boli Rare din Romania si Asociatia Romana de Cancere Rare si sprijinit de Sanofi, Novartis, Bristol Myers Squibb, Janssen si UCB.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Extinderea screening-ului neonatal pentru mai multe boli rare este o necesitate in Romania, deoarece diagnosticarea timpurie poate preveni aparitia simptomelor sau poate intarzia progresia bolilor. In Romania se face, in [&hellip;]<\/p>\n","protected":false},"author":6,"featured_media":14985,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_exactmetrics_skip_tracking":false,"_exactmetrics_sitenote_active":false,"_exactmetrics_sitenote_note":"","_exactmetrics_sitenote_category":0,"footnotes":""},"categories":[1],"tags":[1018,1068,1015,1070,1069,1067],"class_list":["post-14987","post","type-post","status-publish","format-standard","has-post-thumbnail","category-stiri-noutati","tag-alianta-nationala-pentru-boli-rare-romania","tag-asociatia-romana-de-cancere-rare","tag-boli-rare","tag-screening-nou-nascuti","tag-screening-ul-neonatal","tag-share-experience-2023"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.0 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Webinarul \u201eScreening-ul neonatal\u201d sub umbrela Share Experience 2023<\/title>\n<meta name=\"description\" content=\"Screening-ul neonatal extins reprezinta unul dintre cele mai eficiente instrumente pentru diagnosticarea precoce a bolilor congenitale rare\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/jurmed.ro\/medici\/romanii-au-nevoie-de-extinderea-screening-ului-neonatal-pentru-boli-rare\/\" \/>\n<meta property=\"og:locale\" content=\"ro_RO\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Webinarul \u201eScreening-ul neonatal\u201d sub umbrela Share Experience 2023\" \/>\n<meta property=\"og:description\" content=\"Screening-ul neonatal extins reprezinta unul dintre cele mai eficiente instrumente pentru diagnosticarea precoce a bolilor congenitale rare\" \/>\n<meta property=\"og:url\" content=\"https:\/\/jurmed.ro\/medici\/romanii-au-nevoie-de-extinderea-screening-ului-neonatal-pentru-boli-rare\/\" \/>\n<meta property=\"og:site_name\" content=\"Jurmed - 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