{"id":147054,"date":"2024-04-09T06:23:45","date_gmt":"2024-04-09T06:23:45","guid":{"rendered":"https:\/\/labinsights.com\/acf_article\/screen4care-ngs-va-sang-loc-cho-tre-so-sinh-o-chau-au-hoi-dap-voi-giao-su-alessandra-ferlini-va-enrico-bertini\/"},"modified":"2026-01-27T07:15:42","modified_gmt":"2026-01-27T07:15:42","slug":"screen4care-ngs-and-newborn-screening-in-europe-qa-with-prof-alessandra-ferlini-and-enrico-bertini","status":"publish","type":"acf_article","link":"https:\/\/labinsights.com\/vi\/operations\/sequencing\/screen4care-ngs-and-newborn-screening-in-europe-qa-with-prof-alessandra-ferlini-and-enrico-bertini\/","title":{"rendered":"Screen4Care, NGS v\u00e0 s\u00e0ng l\u1ecdc cho tr\u1ebb s\u01a1 sinh \u1edf Ch\u00e2u \u00c2u: H\u1ecfi \u0111\u00e1p v\u1edbi Gi\u00e1o s\u01b0 Alessandra Ferlini v\u00e0 Enrico Bertini"},"content":{"rendered":"<p class=\"text-align-justify\">Ra m\u1eaft v\u00e0o n\u0103m 2021 th\u00f4ng qua m\u1ed9t li\u00ean hi\u1ec7p c\u00f4ng \u2013 t\u01b0 l\u1edbn \u1edf Ch\u00e2u \u00c2u, Screen4Care l\u00e0 m\u1ed9t d\u1ef1 \u00e1n nghi\u00ean c\u1ee9u k\u00e9o d\u00e0i 5 n\u0103m nh\u1eb1m \u0111\u00e1nh gi\u00e1 ti\u1ec1m n\u0103ng c\u1ee7a c\u00f4ng ngh\u1ec7 gi\u1ea3i tr\u00ecnh t\u1ef1 th\u1ebf h\u1ec7 ti\u1ebfp theo (NGS) v\u00e0 c\u00e1c c\u00f4ng c\u1ee5 k\u1ef9 thu\u1eadt s\u1ed1 trong vi\u1ec7c c\u1ea3i thi\u1ec7n h\u1ec7 th\u1ed1ng s\u00e0ng l\u1ecdc cho tr\u1ebb s\u01a1 sinh (NBS), \u0111\u1ea9y nhanh qu\u00e1 tr\u00ecnh ch\u1ea9n \u0111o\u00e1n c\u00e1c b\u1ec7nh di truy\u1ec1n hi\u1ebfm g\u1eb7p v\u00e0 cu\u1ed1i c\u00f9ng l\u00e0 k\u1ebft n\u1ed1i b\u1ec7nh nh\u00e2n v\u1edbi c\u00e1c ph\u01b0\u01a1ng ph\u00e1p \u0111i\u1ec1u tr\u1ecb ho\u1eb7c can thi\u1ec7p c\u00f3 th\u1ec3 mang l\u1ea1i k\u1ebft qu\u1ea3 s\u1ee9c kh\u1ecfe t\u1ed1t h\u01a1n.<\/p>\n<p class=\"text-align-justify\">Sau nhi\u1ec1u n\u0103m l\u00ean k\u1ebf ho\u1ea1ch, d\u1ef1 \u00e1n hi\u1ec7n \u0111ang \u1edf \u201cgiai \u0111o\u1ea1n quan tr\u1ecdng\u201d l\u00e0 ra m\u1eaft ch\u01b0\u01a1ng tr\u00ecnh s\u00e0ng l\u1ecdc v\u00e0 x\u00e9t nghi\u1ec7m panel NGS g\u1ed3m 245 gen v\u1edbi nh\u00f3m \u0111o\u00e0n h\u1ec7 ban \u0111\u1ea7u g\u1ed3m \u00edt nh\u1ea5t 18.000-20.000 tr\u1ebb s\u01a1 sinh tr\u00ean nhi\u1ec1u qu\u1ed1c gia \u1edf Ch\u00e2u \u00c2u. C\u00e1c ho\u1ea1t \u0111\u1ed9ng x\u00e9t nghi\u1ec7m ph\u1ee5c v\u1ee5 nghi\u00ean c\u1ee9u s\u1ebd \u0111\u01b0\u1ee3c t\u1eadp trung t\u1ea1i Ospedale Pediatrico Bambino Ges\u00f9 (OPBG) \u1edf Rome, \u00dd, m\u1ed9t trong nh\u1eefng trung t\u00e2m y t\u1ebf nhi khoa h\u00e0ng \u0111\u1ea7u Ch\u00e2u \u00c2u.<\/p>\n<p class=\"text-align-justify\">\u0110\u1ec3 t\u00ecm hi\u1ec3u th\u00eam v\u1ec1 d\u1ef1 \u00e1n n\u00e0y, Lab Insights \u0111\u00e3 c\u00f3 cu\u1ed9c tr\u00f2 chuy\u1ec7n v\u1edbi Gi\u00e1o s\u01b0\u00a0Alessandra Ferlini, m\u1ed9t nh\u00e0 di truy\u1ec1n h\u1ecdc y khoa ki\u00eam \u0110i\u1ec1u ph\u1ed1i vi\u00ean Khoa h\u1ecdc t\u1ed5ng th\u1ec3 c\u1ee7a Screen4Care, v\u00e0 Bs. Enrico Bertini, m\u1ed9t b\u00e1c s\u0129 th\u1ea7n kinh nhi khoa ki\u00eam Nghi\u00ean c\u1ee9u vi\u00ean ch\u00ednh t\u1ea1i c\u01a1 s\u1edf OPBG. Trong ph\u1ea7n h\u1ecfi \u0111\u00e1p n\u00e0y v\u1edbi Bs. Michela Zuccolo, Tr\u01b0\u1edfng nh\u00f3m Chi\u1ebfn l\u01b0\u1ee3c v\u1ec1 Li\u1ec7u ph\u00e1p Gen To\u00e0n c\u1ea7u &#038; B\u1ec7nh hi\u1ebfm t\u1ea1i Roche, b\u00e0 \u0111\u00e3 chia s\u1ebb nh\u1eefng th\u00f4ng tin c\u1eadp nh\u1eadt quan tr\u1ecdng v\u1ec1 nghi\u00ean c\u1ee9u v\u00e0 c\u1ea3m ngh\u0129 v\u1ec1 t\u01b0\u01a1ng lai c\u1ee7a NBS \u1edf Ch\u00e2u \u00c2u.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Ra m\u1eaft v\u00e0o n\u0103m 2021 th\u00f4ng qua m\u1ed9t li\u00ean hi\u1ec7p c\u00f4ng \u2013 t\u01b0 l\u1edbn \u1edf Ch\u00e2u \u00c2u, Screen4Care l\u00e0 m\u1ed9t d\u1ef1 \u00e1n nghi\u00ean c\u1ee9u k\u00e9o d\u00e0i 5 n\u0103m nh\u1eb1m \u0111\u00e1nh gi\u00e1 ti\u1ec1m n\u0103ng c\u1ee7a c\u00f4ng ngh\u1ec7 gi\u1ea3i tr\u00ecnh t\u1ef1 th\u1ebf h\u1ec7 ti\u1ebfp theo (NGS) v\u00e0 c\u00e1c c\u00f4ng c\u1ee5 k\u1ef9 thu\u1eadt s\u1ed1 trong vi\u1ec7c c\u1ea3i thi\u1ec7n [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":91459,"parent":0,"menu_order":0,"template":"","meta":{"_acf_changed":false,"site-sidebar-layout":"default","site-content-layout":"","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":"","theme-transparent-header-meta":"default","adv-header-id-meta":"","stick-header-meta":"","header-above-stick-meta":"","header-main-stick-meta":"","header-below-stick-meta":"","astra-migrate-meta-layouts":"set","ast-page-background-enabled":"default","ast-page-background-meta":{"desktop":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center 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