{"id":9943,"date":"2018-11-29T15:06:18","date_gmt":"2018-11-29T15:06:18","guid":{"rendered":"https:\/\/futurehealthbiobank.com\/vn\/?p=9943"},"modified":"2021-08-23T11:51:23","modified_gmt":"2021-08-23T10:51:23","slug":"xet-nghiem-truoc-sinh-go-bo-rao-can-ve-hoi-chung-xoa-22q","status":"publish","type":"post","link":"https:\/\/futurehealthbiobank.com\/vn\/blog\/xet-nghiem-truoc-sinh-go-bo-rao-can-ve-hoi-chung-xoa-22q\/","title":{"rendered":"X\u00e9t nghi\u1ec7m tr\u01b0\u1edbc sinh: g\u1ee1 b\u1ecf r\u00e0o c\u1ea3n v\u1ec1 h\u1ed9i ch\u1ee9ng x\u00f3a 22q"},"content":{"rendered":"

M\u1ed9t b\u00e0i b\u00e1o g\u1ea7n \u0111\u00e2y c\u1ee7a BBC \u0111\u00e3 g\u00e2y ch\u00fa \u00fd v\u1ec1 h\u1ed9i ch\u1ee9ng x\u00f3a 22q “\u0111\u01b0\u1ee3c ch\u1ea9n \u0111o\u00e1n sai h\u00e0ng lo\u1ea1t”. T\u00ecnh tr\u1ea1ng di truy\u1ec1n n\u00e0y c\u00f3 th\u1ec3 g\u00e2y ra m\u1ed9t lo\u1ea1t c\u00e1c tri\u1ec7u ch\u1ee9ng v\u1ec1 h\u00e0nh vi, t\u00e2m l\u00fd v\u00e0 th\u1ec3 ch\u1ea5t t\u1eeb nh\u1eb9 \u0111\u1ebfn n\u1eb7ng, nh\u01b0ng th\u01b0\u1eddng bay d\u01b0\u1edbi t\u1ea7m ki\u1ec3m so\u00e1t \u1edf tr\u1ebb s\u01a1 sinh v\u00e0 tr\u1ebb em.<\/h3>\n

<\/p>\n

Do m\u1ea5t 22q l\u00e0 m\u1ed9t t\u00ecnh tr\u1ea1ng di truy\u1ec1n \u00edt \u0111\u01b0\u1ee3c bi\u1ebft \u0111\u1ebfn, nhi\u1ec1u b\u1eadc cha m\u1eb9 v\u00e0 th\u1eadm ch\u00ed c\u1ea3 b\u00e1c s\u0129 kh\u00f4ng nh\u1eadn ra r\u1eb1ng m\u1ed9t \u0111\u1ee9a tr\u1ebb m\u1eafc ch\u1ee9ng n\u00e0y cho \u0111\u1ebfn m\u1ed9t l\u00fac n\u00e0o \u0111\u00f3 sau khi sinh. \u0110i\u1ec1u n\u00e0y c\u00f3 ngh\u0129a l\u00e0 gia \u0111\u00ecnh c\u1ee7a nh\u1eefng \u0111\u1ee9a tr\u1ebb b\u1ecb \u1ea3nh h\u01b0\u1edfng b\u1edfi 22q kh\u00f4ng nh\u1eadn \u0111\u01b0\u1ee3c s\u1ef1 tr\u1ee3 gi\u00fap y t\u1ebf v\u00e0 h\u1ed7 tr\u1ee3 h\u1ecd c\u1ea7n.<\/p>\n

M\u1ed9t nghi\u00ean c\u1ee9u g\u1ea7n \u0111\u00e2y c\u1ee7a \u0110\u1ea1i h\u1ecdc Cardiff<\/a> \u0111\u00e3 ph\u00e1t hi\u1ec7n ra r\u1eb1ng t\u00ecnh tr\u1ea1ng n\u00e0y \u1ea3nh h\u01b0\u1edfng \u0111\u1ebfn \u00edt nh\u1ea5t m\u1ed9t trong s\u1ed1 2.000 tr\u1ebb s\u01a1 sinh \u1edf Anh m\u1ed7i n\u0103m. L\u00e0 m\u1ed9t h\u1ed9i ch\u1ee9ng m\u1ea5t \u0111o\u1ea1n, n\u00f3 li\u00ean quan \u0111\u1ebfn m\u1ed9t \u0111o\u1ea1n DNA nhi\u1ec5m s\u1eafc th\u1ec3 b\u1ecb thi\u1ebfu, g\u00e2y ra m\u1ed9t lo\u1ea1t 180 tri\u1ec7u ch\u1ee9ng ph\u1ee9c t\u1ea1p, ch\u1eb3ng h\u1ea1n nh\u01b0 d\u1ecb t\u1eadt tim b\u1ea9m sinh, h\u1edf h\u00e0m \u1ebfch v\u00e0 ch\u1eadm ph\u00e1t tri\u1ec3n to\u00e0n di\u1ec7n. V\u1edbi r\u1ea5t nhi\u1ec1u tri\u1ec7u ch\u1ee9ng c\u1ee7a 22q, kh\u00f4ng c\u00f3 g\u00ec l\u1ea1 khi t\u00ecnh tr\u1ea1ng di truy\u1ec1n n\u00e0y c\u00f3 th\u1ec3 b\u1ecb cha m\u1eb9 v\u00e0 c\u00e1c chuy\u00ean gia y t\u1ebf hi\u1ec3u nh\u1ea7m.<\/p>\n

N\u1eb1m trong nghi\u00ean c\u1ee9u ph\u00e1t tri\u1ec3n li\u00ean t\u1ee5c c\u1ee7a \u0110\u1ea1i h\u1ecdc Cardiff l\u00e0 Eloise Lee, ba tu\u1ed5i. C\u00f4 b\u00e9 \u0111\u01b0\u1ee3c ch\u1ea9n \u0111o\u00e1n m\u1eafc h\u1ed9i ch\u1ee9ng m\u1ea5t \u0111o\u1ea1n 22q khi 11 th\u00e1ng tu\u1ed5i. T\u1eeb khi sinh ra, m\u1eb9 c\u00f4 b\u00e9 \u0111\u00e3 nh\u1eadn th\u1ea5y Eloise ch\u1eadm \u0111\u1ea1t \u0111\u01b0\u1ee3c c\u00e1c m\u1ed1c ph\u00e1t tri\u1ec3n, kh\u00f4ng \u0111\u01b0\u1ee3c cho \u0103n \u0111\u00fang c\u00e1ch. v\u00e0 l\u00e0 m\u1ed9t \u0111\u1ee9a b\u00e9 r\u1ea5t y\u00ean t\u0129nh.<\/p>\n

Gi\u00e1o s\u01b0 Marianne van den Bree, nh\u00e0 nghi\u00ean c\u1ee9u h\u00e0ng \u0111\u1ea7u c\u1ee7a cu\u1ed9c \u0111\u00e1nh gi\u00e1 Cardiff, \u0111\u00e3 theo d\u00f5i s\u1ef1 ti\u1ebfn b\u1ed9 c\u1ee7a Eloise th\u00f4ng qua vi\u1ec7c ch\u01a1i. C\u00f4 \u1ea5y nh\u1eadn x\u00e9t:<\/p>\n

M\u1ed9t s\u1ed1 ph\u1ee5 huynh tham gia nghi\u00ean c\u1ee9u n\u00f3i v\u1edbi ch\u00fang t\u00f4i r\u1eb1ng tr\u01b0\u1eddng h\u1ecdc kh\u00f4ng hi\u1ec3u r\u1eb1ng tr\u1ebb em c\u00f3 t\u00ecnh tr\u1ea1ng di truy\u1ec1n v\u00e0 h\u1ecd ngh\u0129 r\u1eb1ng \u0111\u1ee9a tr\u1ebb ch\u1ec9 ngh\u1ecbch ng\u1ee3m. C\u00e1c b\u1eadc cha m\u1eb9 kh\u00e1c n\u00f3i v\u1edbi ch\u00fang t\u00f4i r\u1eb1ng khi con h\u1ecd c\u01b0 x\u1eed theo m\u1ed9t c\u00e1ch n\u00e0o \u0111\u00f3, \u0111\u00f4i khi cha m\u1eb9 b\u1ecb \u0111\u1ed5 l\u1ed7i v\u00ec kh\u00f4ng ph\u1ea3i l\u00e0 cha m\u1eb9 t\u1ed1t.<\/p>\n

M\u1eb7c d\u00f9 22q hi\u1ec7n \u0111\u01b0\u1ee3c coi l\u00e0 m\u1ed9t trong nh\u1eefng t\u00ecnh tr\u1ea1ng di truy\u1ec1n ph\u1ed5 bi\u1ebfn nh\u1ea5t, v\u1eabn c\u00f2n nhi\u1ec1u \u0111i\u1ec1u c\u1ea7n t\u00ecm hi\u1ec3u v\u1ec1 \u00fd ngh\u0129a c\u1ee7a \u0111i\u1ec1u n\u00e0y \u0111\u1ed1i v\u1edbi nh\u1eefng ng\u01b0\u1eddi b\u1ecb \u1ea3nh h\u01b0\u1edfng. Nghi\u00ean c\u1ee9u c\u1ee7a ch\u00fang t\u00f4i \u0111ang m\u1edf r\u1ed9ng ki\u1ebfn th\u1ee9c v\u1ec1 c\u00e1c kh\u00eda c\u1ea1nh s\u1ee9c kh\u1ecfe t\u00e2m th\u1ea7n li\u00ean quan \u0111\u1ebfn h\u1ed9i ch\u1ee9ng, \u0111\u1ec3 gi\u00fap x\u00e1c \u0111\u1ecbnh c\u00e1ch tr\u1ebb em v\u00e0 ng\u01b0\u1eddi l\u1edbn c\u00f3 th\u1ec3 \u0111\u01b0\u1ee3c h\u1ed7 tr\u1ee3 t\u1ed1t nh\u1ea5t trong su\u1ed1t cu\u1ed9c \u0111\u1eddi c\u1ee7a h\u1ecd. R\u00f5 r\u00e0ng l\u00e0 t\u1eeb nghi\u00ean c\u1ee9u c\u1ee7a ch\u00fang t\u00f4i cho \u0111\u1ebfn nay v\u1eabn c\u00f2n thi\u1ebfu nh\u1eadn th\u1ee9c – trong c\u1ed9ng \u0111\u1ed3ng y t\u1ebf c\u0169ng nh\u01b0 c\u00f4ng ch\u00fang. C\u00f4ng vi\u1ec7c c\u1ee7a ch\u00fang t\u00f4i l\u00e0 m\u1ed9t ph\u1ea7n trong \u0111\u1ed9ng l\u1ef1c thay \u0111\u1ed5i \u0111i\u1ec1u \u0111\u00f3.<\/p><\/blockquote>\n

Trong m\u1ed9t s\u1ed1 tr\u01b0\u1eddng h\u1ee3p, vi\u1ec7c thi\u1ebfu ch\u1ea9n \u0111o\u00e1n th\u00edch h\u1ee3p \u0111\u00e3 d\u1eabn \u0111\u1ebfn h\u1eadu qu\u1ea3 t\u1eed vong. Con trai c\u1ee7a Julie Wootton, Max, \u0111\u00e3 ch\u1ebft v\u00ec c\u00e1c bi\u1ebfn ch\u1ee9ng c\u1ee7a h\u1ed9i ch\u1ee9ng 22q. T\u1eeb \u0111\u00f3, c\u00f4 \u1ea5y \u0111\u00e3 th\u00e0nh l\u1eadp T\u1ed5 ch\u1ee9c t\u1eeb thi\u1ec7n Max Appeal, \u0111\u1ec3 n\u00e2ng cao nh\u1eadn th\u1ee9c v\u00e0 t\u00e0i tr\u1ee3 cho nghi\u00ean c\u1ee9u v\u1ec1 t\u00ecnh tr\u1ea1ng n\u00e0y.<\/p>\n

M\u1ed9t g\u1ee3i \u00fd t\u1eeb Julie l\u00e0 bao g\u1ed3m 22q nh\u01b0 m\u1ed9t ph\u1ea7n c\u1ee7a c\u00e1c x\u00e9t nghi\u1ec7m s\u00e0ng l\u1ecdc s\u01a1 sinh ti\u00eau chu\u1ea9n, nh\u1eb1m s\u00e0ng l\u1ecdc m\u1ed9t s\u1ed1 t\u00ecnh tr\u1ea1ng \u1ea3nh h\u01b0\u1edfng \u0111\u1ebfn t\u00ednh m\u1ea1ng sau khi sinh. DNA c\u1ee7a con b\u1ea1n cho s\u1ef1 t\u0103ng tr\u01b0\u1edfng vi l\u01b0\u1ee3ng 22q tr\u01b0\u1edbc khi sinh, v\u1edbi x\u00e9t nghi\u1ec7m ti\u1ec1n s\u1ea3n kh\u00f4ng x\u00e2m l\u1ea5n Vision t\u1eeb Future Health Biobank.<\/p>\n

N\u1ebfu b\u1ea1n mu\u1ed1n bi\u1ebft th\u00eam th\u00f4ng tin v\u1ec1 c\u00e1ch x\u00e9t nghi\u1ec7m s\u00e0ng l\u1ecdc tr\u01b0\u1edbc sinh kh\u00f4ng kh\u00f4ng x\u00e2m l\u1ea5n Vision c\u1ee7a ch\u00fang t\u00f4i, trong \u0111\u00f3 c\u00f3 s\u00e0ng l\u1ecdc h\u1ed9i ch\u1ee9ng vi m\u1ea5t \u0111o\u1ea1n 22q, h\u00e3y li\u00ean h\u1ec7 v\u1edbi ch\u00fang t\u00f4i theo s\u1ed1 0115 967 7707 ho\u1eb7c g\u1eedi email t\u1edbi info@fhbb.com.<\/p>\n

Reference: www.bbc.co.uk\/<\/strong><\/a><\/p>\n","protected":false},"excerpt":{"rendered":"

M\u1ed9t b\u00e0i b\u00e1o g\u1ea7n \u0111\u00e2y c\u1ee7a BBC \u0111\u00e3 g\u00e2y ch\u00fa \u00fd v\u1ec1 h\u1ed9i ch\u1ee9ng x\u00f3a 22q “\u0111\u01b0\u1ee3c ch\u1ea9n \u0111o\u00e1n sai h\u00e0ng lo\u1ea1t”. T\u00ecnh tr\u1ea1ng di truy\u1ec1n n\u00e0y c\u00f3 th\u1ec3 g\u00e2y ra m\u1ed9t lo\u1ea1t c\u00e1c tri\u1ec7u ch\u1ee9ng v\u1ec1 h\u00e0nh vi, t\u00e2m l\u00fd v\u00e0 th\u1ec3 ch\u1ea5t t\u1eeb nh\u1eb9 \u0111\u1ebfn n\u1eb7ng, nh\u01b0ng th\u01b0\u1eddng bay d\u01b0\u1edbi t\u1ea7m ki\u1ec3m so\u00e1t […]<\/p>\n","protected":false},"author":18,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[219],"tags":[],"class_list":["post-9943","post","type-post","status-publish","format-standard","hentry","category-our-news"],"acf":[],"yoast_head":"\nPrenatal Testing: Lifting the Lid on 22q Deletion Syndrome | Future Health Biobank<\/title>\n<meta name=\"description\" content=\"A recent BBC article has shone a spotlight on the \u201cmassively misdiagnosed\u201d 22q deletion syndrome. This genetic condition can cause a range of mild to severe behavioural, psychological and physical symptoms, but often flies under the radar in babies and children.\" \/>\n<meta name=\"robots\" content=\"noindex, follow\" \/>\n<meta property=\"og:locale\" content=\"en_GB\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"X\u00e9t nghi\u1ec7m tr\u01b0\u1edbc sinh: g\u1ee1 b\u1ecf r\u00e0o c\u1ea3n v\u1ec1 h\u1ed9i ch\u1ee9ng x\u00f3a 22q\" \/>\n<meta property=\"og:description\" content=\"M\u1ed9t b\u00e0i b\u00e1o g\u1ea7n \u0111\u00e2y c\u1ee7a BBC \u0111\u00e3 g\u00e2y ch\u00fa \u00fd v\u1ec1 h\u1ed9i ch\u1ee9ng x\u00f3a 22q "\u0111\u01b0\u1ee3c ch\u1ea9n \u0111o\u00e1n sai h\u00e0ng lo\u1ea1t". T\u00ecnh tr\u1ea1ng di truy\u1ec1n n\u00e0y c\u00f3 th\u1ec3 g\u00e2y ra m\u1ed9t lo\u1ea1t c\u00e1c tri\u1ec7u\" \/>\n<meta property=\"og:url\" content=\"https:\/\/futurehealthbiobank.com\/vn\/blog\/xet-nghiem-truoc-sinh-go-bo-rao-can-ve-hoi-chung-xoa-22q\/\" \/>\n<meta property=\"og:site_name\" content=\"Future Health Biobank Vietnam\" \/>\n<meta property=\"article:published_time\" content=\"2018-11-29T15:06:18+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2021-08-23T10:51:23+00:00\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"\" \/>\n\t<meta name=\"twitter:label2\" content=\"Estimated reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"4 minutes\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\/\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\/\/futurehealthbiobank.com\/vn\/blog\/xet-nghiem-truoc-sinh-go-bo-rao-can-ve-hoi-chung-xoa-22q\/#article\",\"isPartOf\":{\"@id\":\"https:\/\/futurehealthbiobank.com\/vn\/blog\/xet-nghiem-truoc-sinh-go-bo-rao-can-ve-hoi-chung-xoa-22q\/\"},\"author\":{\"name\":\"\",\"@id\":\"\"},\"headline\":\"X\u00e9t nghi\u1ec7m tr\u01b0\u1edbc sinh: g\u1ee1 b\u1ecf r\u00e0o c\u1ea3n v\u1ec1 h\u1ed9i ch\u1ee9ng x\u00f3a 22q\",\"datePublished\":\"2018-11-29T15:06:18+00:00\",\"dateModified\":\"2021-08-23T10:51:23+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\/\/futurehealthbiobank.com\/vn\/blog\/xet-nghiem-truoc-sinh-go-bo-rao-can-ve-hoi-chung-xoa-22q\/\"},\"wordCount\":1088,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\/\/futurehealthbiobank.com\/vn\/#organization\"},\"articleSection\":[\"Our news\"],\"inLanguage\":\"en-GB\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\/\/futurehealthbiobank.com\/vn\/blog\/xet-nghiem-truoc-sinh-go-bo-rao-can-ve-hoi-chung-xoa-22q\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\/\/futurehealthbiobank.com\/vn\/blog\/xet-nghiem-truoc-sinh-go-bo-rao-can-ve-hoi-chung-xoa-22q\/\",\"url\":\"https:\/\/futurehealthbiobank.com\/vn\/blog\/xet-nghiem-truoc-sinh-go-bo-rao-can-ve-hoi-chung-xoa-22q\/\",\"name\":\"Prenatal Testing: Lifting the Lid on 22q Deletion Syndrome | Future Health Biobank\",\"isPartOf\":{\"@id\":\"https:\/\/futurehealthbiobank.com\/vn\/#website\"},\"datePublished\":\"2018-11-29T15:06:18+00:00\",\"dateModified\":\"2021-08-23T10:51:23+00:00\",\"description\":\"A recent BBC article has shone a spotlight on the \u201cmassively misdiagnosed\u201d 22q deletion syndrome. 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