{"id":1913,"date":"2023-04-07T22:39:39","date_gmt":"2023-04-07T15:39:39","guid":{"rendered":"http:\/\/noithathoaphat.in\/ctv\/?p=1913"},"modified":"2023-04-13T12:53:28","modified_gmt":"2023-04-13T05:53:28","slug":"vus-trong-xet-nghiem-di-truyen","status":"publish","type":"post","link":"http:\/\/noithathoaphat.in\/ctv\/index.php\/2023\/04\/07\/vus-trong-xet-nghiem-di-truyen\/","title":{"rendered":"X\u1eed tr\u00ed VUS trong x\u00e9t nghi\u1ec7m di truy\u1ec1n"},"content":{"rendered":"<p><strong>VUS trong x\u00e9t nghi\u1ec7m di truy\u1ec1n l\u00e0 c\u00e1c bi\u1ebfn th\u1ec3 gen m\u00e0 khoa h\u1ecdc ch\u01b0a th\u1ec3 \u0111\u01b0a ra k\u1ebft lu\u1eadn ch\u00ednh x\u00e1c v\u1ec1 t\u00e1c \u0111\u1ed9ng c\u1ee7a ch\u00fang \u0111\u1ebfn s\u1ee9c kh\u1ecfe. Vi\u1ec7c nh\u1eadn \u0111\u01b0\u1ee3c k\u1ebft qu\u1ea3 VUS trong x\u00e9t nghi\u1ec7m di truy\u1ec1n s\u1ebd g\u00e2y ra nhi\u1ec1u b\u1ed1i r\u1ed1i cho c\u1ea3 ng\u01b0\u1eddi \u0111\u1ecdc v\u00e0 ng\u01b0\u1eddi nh\u1eadn k\u1ebft qu\u1ea3. B\u00e0i vi\u1ebft s\u1ebd cung c\u1ea5p nh\u1eefng th\u00f4ng tin c\u1ea7n bi\u1ebft v\u1ec1 VUS v\u00e0 h\u01b0\u1edbng x\u1eed tr\u00ed cho b\u00e1c s\u0129 di truy\u1ec1n khi ph\u00e1t hi\u1ec7n lo\u1ea1i bi\u1ebfn th\u1ec3 gen n\u00e0y.<\/strong><\/p>\n<h4>1. VUS l\u00e0 g\u00ec?<\/h4>\n<p>VUS l\u00e0 vi\u1ebft t\u1eaft c\u1ee7a c\u1ee5m t\u1eeb ti\u1ebfng Anh &#8220;Variant of Uncertain Significance&#8221;, ngh\u0129a l\u00e0 bi\u1ebfn th\u1ec3 kh\u00f4ng r\u00f5 r\u00e0ng v\u1ec1 t\u00e1c \u0111\u1ed9ng c\u1ee7a ch\u00fang \u0111\u1ebfn s\u1ee9c kh\u1ecfe. \u0110\u00e2y l\u00e0 m\u1ed9t thu\u1eadt ng\u1eef \u0111\u01b0\u1ee3c s\u1eed d\u1ee5ng trong y h\u1ecdc di truy\u1ec1n \u0111\u1ec3 ch\u1ec9 c\u00e1c bi\u1ebfn th\u1ec3 gen m\u00e0 ng\u01b0\u1eddi \u0111\u1ecdc kh\u00f4ng th\u1ec3 \u0111\u01b0a ra k\u1ebft lu\u1eadn ch\u00ednh x\u00e1c v\u1ec1 t\u00e1c \u0111\u1ed9ng c\u1ee7a ch\u00fang \u0111\u1ebfn s\u1ee9c kh\u1ecfe c\u1ee7a ng\u01b0\u1eddi l\u00e0m x\u00e9t nghi\u1ec7m di truy\u1ec1n.<\/p>\n<p><img decoding=\"async\" loading=\"lazy\" class=\"aligncenter wp-image-1919 size-full\" src=\"http:\/\/noithathoaphat.in\/ctv\/wp-content\/uploads\/2023\/04\/Screenshot-2023-04-07-at-22.28.19.png\" alt=\"\" width=\"774\" height=\"432\" srcset=\"http:\/\/noithathoaphat.in\/ctv\/wp-content\/uploads\/2023\/04\/Screenshot-2023-04-07-at-22.28.19.png 774w, http:\/\/noithathoaphat.in\/ctv\/wp-content\/uploads\/2023\/04\/Screenshot-2023-04-07-at-22.28.19-300x167.png 300w, http:\/\/noithathoaphat.in\/ctv\/wp-content\/uploads\/2023\/04\/Screenshot-2023-04-07-at-22.28.19-768x429.png 768w\" sizes=\"(max-width: 774px) 100vw, 774px\" \/><\/p>\n<p>Vi\u1ec7c ph\u00e1t hi\u1ec7n m\u1ed9t VUS trong x\u00e9t nghi\u1ec7m di truy\u1ec1n c\u00f3 th\u1ec3 g\u00e2y ra lo l\u1eafng v\u00e0 b\u1ed1i r\u1ed1i cho ng\u01b0\u1eddi b\u1ec7nh v\u00e0 gia \u0111\u00ecnh. N\u1ebfu m\u1ed9t VUS \u0111\u01b0\u1ee3c ph\u00e1t hi\u1ec7n, c\u00e1c chuy\u00ean gia di truy\u1ec1n s\u1ebd th\u01b0\u1eddng ti\u1ebfp t\u1ee5c theo d\u00f5i s\u1ee9c kh\u1ecfe c\u1ee7a ng\u01b0\u1eddi b\u1ec7nh v\u00e0 c\u00e1c th\u00e0nh vi\u00ean trong gia \u0111\u00ecnh \u0111\u1ec3 theo d\u00f5i c\u00e1c d\u1ea5u hi\u1ec7u v\u00e0 tri\u1ec7u ch\u1ee9ng c\u00f3 li\u00ean quan \u0111\u1ebfn VUS.<\/p>\n<p>N\u1ebfu sau n\u00e0y c\u00f3 th\u00eam th\u00f4ng tin v\u1ec1 t\u00e1c \u0111\u1ed9ng c\u1ee7a VUS \u0111\u1ebfn s\u1ee9c kh\u1ecfe, c\u00e1c chuy\u00ean gia di truy\u1ec1n s\u1ebd c\u1eadp nh\u1eadt l\u1ea1i th\u00f4ng tin \u0111\u1ec3 c\u00f3 th\u1ec3 \u0111\u01b0a ra quy\u1ebft \u0111\u1ecbnh \u0111i\u1ec1u tr\u1ecb v\u00e0 gi\u00fap ng\u01b0\u1eddi b\u1ec7nh v\u00e0 gia \u0111\u00ecnh hi\u1ec3u r\u00f5 h\u01a1n v\u1ec1 t\u00ecnh tr\u1ea1ng c\u1ee7a m\u00ecnh.<\/p>\n<h4><strong>2. X\u00e1c su\u1ea5t nh\u1eadn \u0111\u01b0\u1ee3c k\u1ebft qu\u1ea3 VUS<\/strong><\/h4>\n<p>T\u1ec9 l\u1ec7 nh\u1eadn \u0111\u01b0\u1ee3c k\u1ebft qu\u1ea3 VUS khi x\u00e9t nghi\u1ec7m di truy\u1ec1n c\u00f3 th\u1ec3 kh\u00e1c nhau t\u00f9y thu\u1ed9c v\u00e0o lo\u1ea1i x\u00e9t nghi\u1ec7m v\u00e0 gen \u0111\u01b0\u1ee3c x\u00e9t nghi\u1ec7m. Tuy nhi\u00ean, c\u00e1c nghi\u00ean c\u1ee9u cho th\u1ea5y r\u1eb1ng t\u1ef7 l\u1ec7 nh\u1eadn \u0111\u01b0\u1ee3c k\u1ebft qu\u1ea3 VUS khi x\u00e9t nghi\u1ec7m di truy\u1ec1n c\u00f3 th\u1ec3 kho\u1ea3ng t\u1eeb <strong>5-15%.<\/strong><\/p>\n<p>\u0110i\u1ec1u n\u00e0y c\u00f3 ngh\u0129a l\u00e0 m\u1ed9t ph\u1ea7n nh\u1ecf c\u00e1c k\u1ebft qu\u1ea3 x\u00e9t nghi\u1ec7m s\u1ebd \u0111\u01b0\u1ee3c x\u00e1c \u0111\u1ecbnh l\u00e0 VUS, v\u00e0 kh\u00f4ng r\u00f5 r\u00e0ng v\u1ec1 \u00fd ngh\u0129a c\u1ee7a ch\u00fang \u0111\u1ed1i v\u1edbi b\u1ec7nh l\u00fd.<\/p>\n<h4><strong>3. C\u1ea7n l\u00e0m g\u00ec khi nh\u1eadn \u0111\u01b0\u1ee3c k\u1ebft qu\u1ea3 l\u00e0 VUS?<\/strong><\/h4>\n<p>Theo h\u01b0\u1edbng d\u1eabn c\u1ee7a Hi\u1ec7p h\u1ed9i Di truy\u1ec1n Hoa K\u00ec (American Society of\u00a0<a class=\"Markdown_link__9ACHA MarkdownLink_linkifiedLink__KxC9G\">Human Genetics<\/a>), khi chuy\u00ean gia di truy\u1ec1n nh\u1eadn \u0111\u01b0\u1ee3c k\u1ebft qu\u1ea3 l\u00e0 VUS, h\u1ecd n\u00ean th\u1ef1c hi\u1ec7n c\u00e1c b\u01b0\u1edbc sau:<\/p>\n<ul>\n<li><strong>X\u00e1c \u0111\u1ecbnh v\u00e0 x\u00e1c nh\u1eadn VUS:<\/strong> Chuy\u00ean gia di truy\u1ec1n c\u1ea7n x\u00e1c \u0111\u1ecbnh ch\u00ednh x\u00e1c VUS v\u00e0 x\u00e1c nh\u1eadn n\u00f3 th\u00f4ng qua c\u00e1c ph\u01b0\u01a1ng ph\u00e1p x\u00e9t nghi\u1ec7m v\u00e0 ki\u1ec3m tra sinh h\u1ecdc ph\u00e2n t\u1eed kh\u00e1c.<\/li>\n<li><strong>T\u00ecm ki\u1ebfm th\u00f4ng tin th\u00eam v\u1ec1 VUS:<\/strong> Chuy\u00ean gia di truy\u1ec1n c\u1ea7n t\u00ecm ki\u1ebfm th\u00f4ng tin th\u00eam v\u1ec1 VUS trong c\u00e1c c\u01a1 s\u1edf d\u1eef li\u1ec7u di truy\u1ec1n m\u1edbi nh\u1ea5t \u0111\u1ec3 hi\u1ec3u r\u00f5 h\u01a1n v\u1ec1 t\u00ednh ch\u1ea5t c\u1ee7a bi\u1ebfn th\u1ec3 gen n\u00e0y.<\/li>\n<li><strong>Th\u1ea3o lu\u1eadn v\u1edbi c\u00e1c chuy\u00ean gia di truy\u1ec1n v\u00e0 chuy\u00ean khoa kh\u00e1c:<\/strong> Chuy\u00ean gia di truy\u1ec1n n\u00ean th\u1ea3o lu\u1eadn v\u1edbi c\u00e1c b\u00e1c s\u0129 di truy\u1ec1n v\u00e0 c\u00e1c b\u00e1c s\u0129 chuy\u00ean khoa c\u00f3 li\u00ean quan \u0111\u1ebfn VUS trong k\u1ebft qu\u1ea3 \u0111\u1ec3 c\u00f3 \u0111\u01b0\u1ee3c h\u01b0\u1edbng x\u1eed l\u00fd ph\u00f9 h\u1ee3p.<\/li>\n<li><strong>C\u1eadp nh\u1eadt th\u00f4ng tin:<\/strong> N\u1ebfu c\u00f3 th\u00f4ng tin m\u1edbi v\u1ec1 VUS, chuy\u00ean gia di truy\u1ec1n n\u00ean c\u1eadp nh\u1eadt th\u00f4ng tin cho b\u1ec7nh nh\u00e2n v\u00e0 gia \u0111\u00ecnh c\u1ee7a h\u1ecd.<\/li>\n<li><strong>Gi\u1ea3i th\u00edch \u00fd ngh\u0129a c\u1ee7a VUS cho b\u1ec7nh nh\u00e2n v\u00e0 gia \u0111\u00ecnh:<\/strong> Chuy\u00ean gia di truy\u1ec1n c\u1ea7n gi\u1ea3i th\u00edch r\u00f5 r\u00e0ng v\u1ec1 \u00fd ngh\u0129a c\u1ee7a VUS cho b\u1ec7nh nh\u00e2n v\u00e0 gia \u0111\u00ecnh c\u1ee7a h\u1ecd \u0111\u1ec3 gi\u00fap h\u1ecd hi\u1ec3u r\u00f5 h\u01a1n v\u1ec1 t\u00ecnh tr\u1ea1ng c\u1ee7a m\u00ecnh.<\/li>\n<li><strong>Cung c\u1ea5p l\u1eddi khuy\u00ean v\u00e0 h\u01b0\u1edbng d\u1eabn:<\/strong> Chuy\u00ean gia di truy\u1ec1n c\u1ea7n cung c\u1ea5p l\u1eddi khuy\u00ean v\u00e0 h\u01b0\u1edbng d\u1eabn cho b\u1ec7nh nh\u00e2n v\u00e0 gia \u0111\u00ecnh c\u1ee7a h\u1ecd v\u1ec1 c\u00e1ch qu\u1ea3n l\u00fd s\u1ee9c kh\u1ecfe v\u00e0 th\u1ef1c hi\u1ec7n c\u00e1c x\u00e9t nghi\u1ec7m v\u00e0 ki\u1ec3m tra th\u01b0\u1eddng xuy\u00ean.<\/li>\n<\/ul>\n<h4><strong>4. X\u00e1c su\u1ea5t VUS tr\u1edf th\u00e0nh g\u00e2y b\u1ec7nh<\/strong><\/h4>\n<p>VUS l\u00e0 bi\u1ebfn th\u1ec3 di truy\u1ec1n c\u1ee7a gen \u0111\u01b0\u1ee3c x\u00e1c \u0111\u1ecbnh, nh\u01b0ng kh\u00f4ng r\u00f5 r\u00e0ng v\u1ec1 \u00fd ngh\u0129a c\u1ee7a n\u00f3 \u0111\u1ed1i v\u1edbi b\u1ec7nh l\u00fd. V\u00ec v\u1eady, khi nh\u1eadn \u0111\u01b0\u1ee3c k\u1ebft qu\u1ea3 VUS, kh\u00f4ng th\u1ec3 ch\u1eafc ch\u1eafn r\u1eb1ng bi\u1ebfn th\u1ec3 gen n\u00e0y s\u1ebd g\u00e2y ra b\u1ec7nh hay kh\u00f4ng. Trong s\u1ed1 c\u00e1c bi\u1ebfn th\u1ec3 gen \u0111\u01b0\u1ee3c x\u00e1c \u0111\u1ecbnh l\u00e0 VUS, m\u1ed9t s\u1ed1 c\u00f3 th\u1ec3 g\u00e2y ra b\u1ec7nh trong t\u01b0\u01a1ng lai, trong khi c\u00e1c bi\u1ebfn th\u1ec3 kh\u00e1c kh\u00f4ng g\u00e2y ra b\u1ec7nh.<\/p>\n<p>Tuy nhi\u00ean, theo c\u00e1c nghi\u00ean c\u1ee9u v\u00e0 th\u1ed1ng k\u00ea, t\u1ef7 l\u1ec7 VUS tr\u1edf th\u00e0nh g\u00e2y b\u1ec7nh r\u1ea5t th\u1ea5p, <strong>ch\u1ec9 kho\u1ea3ng t\u1eeb 5-10%.<\/strong> \u0110i\u1ec1u n\u00e0y c\u00f3 ngh\u0129a l\u00e0 <strong>\u0111a s\u1ed1 c\u00e1c VUS kh\u00f4ng \u1ea3nh h\u01b0\u1edfng \u0111\u1ebfn s\u1ee9c kh\u1ecfe v\u00e0 kh\u00f4ng g\u00e2y ra b\u1ec7nh.<\/strong><\/p>\n<p>Vi\u1ec7c \u0111\u00e1nh gi\u00e1 \u00fd ngh\u0129a c\u1ee7a VUS l\u00e0 m\u1ed9t v\u1ea5n \u0111\u1ec1 ph\u1ee9c t\u1ea1p v\u00e0 c\u1ea7n \u0111\u01b0\u1ee3c th\u1ef1c hi\u1ec7n b\u1edfi c\u00e1c chuy\u00ean gia di truy\u1ec1n. N\u1ebfu b\u1ea1n nh\u1eadn \u0111\u01b0\u1ee3c k\u1ebft qu\u1ea3 VUS, h\u00e3y th\u1ea3o lu\u1eadn v\u1edbi chuy\u00ean gia di truy\u1ec1n \u0111\u1ec3 hi\u1ec3u r\u00f5 h\u01a1n v\u1ec1 t\u00ecnh tr\u1ea1ng c\u1ee7a m\u00ecnh v\u00e0 \u0111\u01b0a ra quy\u1ebft \u0111\u1ecbnh th\u00edch h\u1ee3p v\u1ec1 vi\u1ec7c qu\u1ea3n l\u00fd s\u1ee9c kh\u1ecfe c\u1ee7a m\u00ecnh.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>VUS trong x\u00e9t nghi\u1ec7m di truy\u1ec1n l\u00e0 c\u00e1c bi\u1ebfn th\u1ec3 gen m\u00e0 khoa h\u1ecdc ch\u01b0a th\u1ec3 \u0111\u01b0a ra k\u1ebft lu\u1eadn ch\u00ednh x\u00e1c v\u1ec1 t\u00e1c \u0111\u1ed9ng c\u1ee7a ch\u00fang \u0111\u1ebfn s\u1ee9c kh\u1ecfe. Vi\u1ec7c nh\u1eadn \u0111\u01b0\u1ee3c k\u1ebft qu\u1ea3 VUS trong x\u00e9t nghi\u1ec7m di truy\u1ec1n s\u1ebd g\u00e2y ra nhi\u1ec1u b\u1ed1i r\u1ed1i cho c\u1ea3 ng\u01b0\u1eddi \u0111\u1ecdc v\u00e0 ng\u01b0\u1eddi nh\u1eadn k\u1ebft [&hellip;]<\/p>\n","protected":false},"author":11,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":[],"categories":[33,14],"tags":[3],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v20.4 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>X\u1eed tr\u00ed VUS trong x\u00e9t nghi\u1ec7m di truy\u1ec1n - Vinmec<\/title>\n<meta name=\"description\" content=\"VUS trong x\u00e9t nghi\u1ec7m di truy\u1ec1n ch\u1ec9 c\u00e1c bi\u1ebfn th\u1ec3 gen m\u00e0 khoa h\u1ecdc ch\u01b0a th\u1ec3 \u0111\u01b0a ra k\u1ebft lu\u1eadn ch\u00ednh x\u00e1c v\u1ec1 t\u00e1c \u0111\u1ed9ng c\u1ee7a ch\u00fang \u0111\u1ebfn s\u1ee9c kh\u1ecfe.\" \/>\n<meta name=\"robots\" content=\"noindex, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"X\u1eed tr\u00ed VUS trong x\u00e9t nghi\u1ec7m di truy\u1ec1n - 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