{"id":57157,"date":"2025-12-12T09:16:22","date_gmt":"2025-12-12T02:16:22","guid":{"rendered":"https:\/\/hbbgroup.net\/vo-chong-cung-mang-gene-benh-xo-nang-di-truyen-cho-con\/"},"modified":"2025-12-12T09:16:22","modified_gmt":"2025-12-12T02:16:22","slug":"vo-chong-cung-mang-gene-benh-xo-nang-di-truyen-cho-con","status":"publish","type":"post","link":"https:\/\/hbbgroup.net\/vi\/vo-chong-cung-mang-gene-benh-xo-nang-di-truyen-cho-con\/","title":{"rendered":"V\u1ee3 ch\u1ed3ng c\u00f9ng mang gene b\u1ec7nh x\u01a1 nang di truy\u1ec1n cho con"},"content":{"rendered":"

TP HCM<\/span>V\u1ee3 ch\u1ed3ng ch\u1ecb H\u01b0\u01a1ng mang gene l\u1eb7n b\u1ec7nh x\u01a1 nang, thai nhi c\u00f3 hai bi\u1ebfn th\u1ec3 \u1edf v\u1ecb tr\u00ed kh\u00e1c nhau tr\u00ean c\u00f9ng m\u1ed9t gene CFTR song may m\u1eafn ch\u00e0o \u0111\u1eddi ch\u01b0a c\u00f3 bi\u1ec3u hi\u1ec7n b\u1ea5t th\u01b0\u1eddng.<\/p>\n

\u0110\u00e2y l\u00e0 l\u1ea7n \u0111\u1ea7u ch\u1ecb H\u01b0\u01a1ng, 29 tu\u1ed5i, mang thai. X\u00e9t nghi\u1ec7m s\u00e0ng l\u1ecdc kh\u00f4ng x\u00e2m l\u1ea5n tr\u01b0\u1edbc sinh (NIPT) k\u1ebft h\u1ee3p t\u1ea7m so\u00e1t gene \u1edf tu\u1ea7n thai th\u1ee9 9 t\u1ea1i Ph\u00f2ng kh\u00e1m \u0110a khoa T\u00e2m Anh Qu\u1eadn 7, ghi nh\u1eadn NIPT nguy c\u01a1 th\u1ea5p. K\u1ebft qu\u1ea3 x\u00e9t nghi\u1ec7m di truy\u1ec1n cho th\u1ea5y c\u1ea3 hai v\u1ee3 ch\u1ed3ng \u0111\u1ec1u mang \u0111\u1ed9t bi\u1ebfn gene CFTR d\u1ecb h\u1ee3p t\u1eed, t\u1ee9c ng\u01b0\u1eddi l\u00e0nh mang gene b\u1ec7nh x\u01a1 nang.<\/p>\n

X\u01a1 nang l\u00e0 r\u1ed1i lo\u1ea1n di truy\u1ec1n, ch\u1ee7 y\u1ebfu \u1ea3nh h\u01b0\u1edfng \u0111\u1ebfn h\u1ec7 h\u00f4 h\u1ea5p, ti\u00eau h\u00f3a v\u00e0 sinh s\u1ea3n. C\u00e1c tri\u1ec7u ch\u1ee9ng c\u00f3 th\u1ec3 bao g\u1ed3m nhi\u1ec5m tr\u00f9ng ph\u1ed5i m\u1ea1n t\u00ednh, vi\u00eam xoang, suy t\u1ee5y, \u0111\u00e1i th\u00e1o \u0111\u01b0\u1eddng kh\u1edfi ph\u00e1t s\u1edbm, lo\u00e3ng x\u01b0\u01a1ng, v\u00f4 sinh \u0111\u1ed1i v\u1edbi nam. Tr\u1ebb m\u1eafc b\u1ec7nh c\u00f3 nguy c\u01a1 b\u1ecb t\u1eafc ru\u1ed9t ph\u00e2n su sau sinh, v\u00e0ng da s\u01a1 sinh, ti\u00eau ch\u1ea3y, suy dinh d\u01b0\u1ee1ng, kh\u00f3 th\u1edf, vi\u00eam ph\u1ed5i, vi\u00eam ph\u1ebf qu\u1ea3n, m\u1ed3 h\u00f4i m\u1eb7n, ch\u1eadm ph\u00e1t tri\u1ec3n, tinh ho\u00e0n \u1ea9n \u1edf b\u00e9 trai… Ng\u01b0\u1eddi b\u1ec7nh n\u1eb7ng th\u01b0\u1eddng c\u00f3 tu\u1ed5i th\u1ecd trung b\u00ecnh 40-50 do t\u1ed5n th\u01b0\u01a1ng ph\u1ed5i m\u1ea1n t\u00ednh v\u00e0 nhi\u1ec5m tr\u00f9ng t\u00e1i ph\u00e1t.<\/p>\n

ThS.BS Nguy\u1ec5n Ph\u01b0\u01a1ng Th\u1ea3o, chuy\u00ean khoa Y h\u1ecdc b\u00e0o thai, gi\u1ea3i th\u00edch v\u1ec1 m\u1eb7t di truy\u1ec1n h\u1ecdc, con ch\u1ecb H\u01b0\u01a1ng c\u00f3 25% kh\u1ea3 n\u0103ng ch\u00e0o \u0111\u1eddi kh\u1ecfe m\u1ea1nh, 50% mang gene b\u1ec7nh<\/a> v\u00e0 25% m\u1eafc b\u1ec7nh x\u01a1 nang. Ch\u1ecb c\u1ea7n kh\u00e1m thai \u0111\u00fang l\u1ecbch h\u1eb9n \u0111\u1ec3 b\u00e1c s\u0129 theo d\u00f5i s\u00e1t t\u00ecnh tr\u1ea1ng thai nhi. \u0110\u1ebfn tu\u1ea7n 12, si\u00eau \u00e2m thai nhi ghi nh\u1eadn \u0111\u1ed9 m\u1edd da g\u00e1y d\u00e0y 3,7 mm c\u1ea3nh b\u00e1o nguy c\u01a1 b\u1ea5t th\u01b0\u1eddng nhi\u1ec5m s\u1eafc th\u1ec3, \u0111\u1ed9t bi\u1ebfn gene ho\u1eb7c d\u1ecb t\u1eadt tim.<\/p>\n

B\u00e1c s\u0129 sinh thi\u1ebft gai nhau cho thai ph\u1ee5 \u0111\u1ec3 ki\u1ec3m tra di truy\u1ec1n chuy\u00ean s\u00e2u, k\u1ebft qu\u1ea3 thai nhi mang hai bi\u1ebfn th\u1ec3 \u1edf v\u1ecb tr\u00ed kh\u00e1c nhau tr\u00ean c\u00f9ng m\u1ed9t gene CFTR (d\u1ecb h\u1ee3p t\u1eed k\u00e9p). Trong \u0111\u00f3, m\u1ed9t \u0111\u1ed9t bi\u1ebfn thu\u1ed9c ph\u00e2n l\u1edbp g\u00e2y b\u1ec7nh, c\u00f2n m\u1ed9t bi\u1ebfn th\u1ec3 ch\u01b0a r\u00f5 ch\u1ee9c n\u0103ng theo Clinvar – c\u01a1 s\u1edf d\u1eef li\u1ec7u l\u01b0u tr\u1eef th\u00f4ng tin v\u1ec1 bi\u1ebfn th\u1ec3 di truy\u1ec1n \u1edf ng\u01b0\u1eddi thu\u1ed9c Vi\u1ec7n Y t\u1ebf Qu\u1ed1c gia M\u1ef9 (NIH).<\/p>\n

B\u00e1c s\u0129 Th\u1ea3o ch\u1ea9n \u0111o\u00e1n thai nhi nguy c\u01a1 cao m\u1eafc b\u1ec7nh x\u01a1 nang, c\u00f3 th\u1ec3 m\u1ee9c \u0111\u1ed9 nh\u1eb9 ho\u1eb7c trung b\u00ecnh, kh\u00f4ng \u1ea3nh h\u01b0\u1edfng nghi\u00eam tr\u1ecdng \u0111\u1ebfn ch\u1ee9c n\u0103ng s\u1ed1ng, \u0111\u1ed3ng h\u00e0nh su\u1ed1t thai k\u1ef3 \u0111\u1ebfn l\u00fac ch\u1ecb H\u01b0\u01a1ng sinh an to\u00e0n.<\/p>\n

Hi\u1ec7n b\u00e9 g\u00e1i 3 th\u00e1ng tu\u1ed5i, ph\u00e1t tri\u1ec3n \u1ed5n \u0111\u1ecbnh, ch\u01b0a c\u00f3 bi\u1ec3u hi\u1ec7n b\u1ea5t th\u01b0\u1eddng. B\u00e1c s\u0129 h\u01b0\u1edbng d\u1eabn v\u1ee3 ch\u1ed3ng ch\u1ecb H\u01b0\u01a1ng theo d\u00f5i, \u0111\u01b0a b\u00e9 t\u00e1i kh\u00e1m \u0111\u1ecbnh k\u1ef3 \u0111\u1ec3 ki\u1ec3m tra ch\u1ee9c n\u0103ng h\u00f4 h\u1ea5p, dinh d\u01b0\u1ee1ng, tuy\u1ebfn m\u1ed3 h\u00f4i, t\u1eeb \u0111\u00f3 can thi\u1ec7p ph\u00f9 h\u1ee3p. B\u00e9 c\u1ea7n ti\u00eam ph\u00f2ng, bao g\u1ed3m vaccine c\u00fam, ph\u1ebf c\u1ea7u \u0111\u1ec3 ph\u00f2ng ng\u1eeba nhi\u1ec5m tr\u00f9ng h\u00f4 h\u1ea5p.<\/p>\n

<\/p>\n
\"Ch\u1ecb <\/picture><\/div>
\n

Ch\u1ecb H\u01b0\u01a1ng l\u1ea5y m\u00e1u x\u00e9t nghi\u1ec7m di truy\u1ec1n. \u1ea2nh: Ph\u00f2ng kh\u00e1m \u0110a khoa T\u00e2m Anh Qu\u1eadn 7<\/em><\/p>\n<\/figcaption><\/figure>\n

Gene CFTR n\u1eb1m tr\u00ean nhi\u1ec5m s\u1eafc th\u1ec3 s\u1ed1 7, c\u00f3 vai tr\u00f2 ki\u1ec3m so\u00e1t th\u00e0nh ph\u1ea7n mu\u1ed1i v\u00e0 n\u01b0\u1edbc c\u1ee7a ch\u1ea5t nh\u1ea7y, m\u1ed3 h\u00f4i, n\u01b0\u1edbc b\u1ecdt, n\u01b0\u1edbc m\u1eaft, enzyme ti\u00eau h\u00f3a. H\u01a1n 2.000 \u0111\u1ed9t bi\u1ebfn c\u00f3 th\u1ec3 x\u1ea3y ra \u1edf gene CFTR g\u00e2y b\u1ec7nh x\u01a1 nang. C\u00e1c \u0111\u1ed9t bi\u1ebfn n\u00e0y c\u00f3 kh\u1ea3 n\u0103ng khi\u1ebfn c\u00e1c d\u1ecbch ti\u1ebft tr\u1edf n\u00ean \u0111\u1eb7c, d\u00ednh g\u00e2y t\u1eafc ngh\u1ebdn \u1edf ph\u1ed5i, tuy\u1ebfn t\u1ee5y, \u1ed1ng d\u1eabn tinh… B\u1ec7nh \u0111\u01b0\u1ee3c chia th\u00e0nh 5 nh\u00f3m t\u1eeb nh\u1eb9 \u0111\u1ebfn n\u1eb7ng. M\u1ee9c \u0111\u1ed9 nghi\u00eam tr\u1ecdng ph\u1ee5 thu\u1ed9c v\u00e0o ph\u00e2n lo\u1ea1i v\u00e0 v\u1ecb tr\u00ed c\u1ee7a \u0111\u1ed9t bi\u1ebfn gene CFTR.<\/p>\n

Hi\u1ec7n ch\u01b0a c\u00f3 ph\u01b0\u01a1ng ph\u00e1p \u0111i\u1ec1u tr\u1ecb tri\u1ec7t \u0111\u1ec3 b\u1ec7nh x\u01a1 nang, trong khi t\u1ef7 l\u1ec7 ng\u01b0\u1eddi mang gene b\u1ec7nh \u01b0\u1edbc t\u00ednh 1\/25-1\/100, theo b\u00e1c s\u0129 Th\u1ea3o. Qu\u1ea3n l\u00fd b\u1ec7nh b\u1eb1ng thu\u1ed1c, li\u1ec7u ph\u00e1p dinh d\u01b0\u1ee1ng, h\u00f4 h\u1ea5p nh\u1eb1m ki\u1ec3m so\u00e1t tri\u1ec7u ch\u1ee9ng, ph\u00f2ng ng\u1eeba bi\u1ebfn ch\u1ee9ng. D\u00f9 c\u00f3 nhi\u1ec1u ti\u1ebfn b\u1ed9 trong \u0111i\u1ec1u tr\u1ecb c\u1ea3i thi\u1ec7n ch\u1ee9c n\u0103ng gene, song tu\u1ed5i th\u1ecd c\u1ee7a ng\u01b0\u1eddi b\u1ec7nh x\u01a1 nang v\u1eabn c\u00f2n h\u1ea1n ch\u1ebf, trong \u0111\u00f3 gh\u00e9p ph\u1ed5i c\u00f3 th\u1ec3 l\u00e0 gi\u1ea3i ph\u00e1p cho b\u1ec7nh giai \u0111o\u1ea1n cu\u1ed1i.<\/p>\n

B\u00e1c s\u0129 Th\u1ea3o khuy\u1ebfn ngh\u1ecb c\u00e1c c\u1eb7p \u0111\u00f4i s\u00e0ng l\u1ecdc gene ti\u1ec1n h\u00f4n nh\u00e2n<\/a>, tr\u01b0\u1edbc mang thai ho\u1eb7c tr\u01b0\u1edbc sinh t\u1ea1i trung t\u00e2m y t\u1ebf chuy\u00ean s\u00e2u \u0111\u1ec3 d\u1ef1 ph\u00f2ng c\u00e1c b\u1ec7nh di truy\u1ec1n, nh\u1ea5t l\u00e0 c\u00e1c b\u1ec7nh ph\u1ed5 bi\u1ebfn \u1ea3nh h\u01b0\u1edfng n\u1eb7ng \u0111\u1ebfn kh\u1ea3 n\u0103ng s\u1ed1ng c\u1ee7a tr\u1ebb nh\u01b0 Thalassemia, teo c\u01a1 t\u1ee7y, x\u01a1 nang, Phenylketon ni\u1ec7u (kh\u00f4ng dung n\u1ea1p \u0111\u1ea1m).<\/p>\n

Ng\u1ecdc Ch\u00e2u<\/strong><\/p>\n

* T\u00ean ng\u01b0\u1eddi b\u1ec7nh \u0111\u00e3 \u0111\u01b0\u1ee3c thay \u0111\u1ed5i<\/em><\/p>\n

<\/span><\/p>\n

\u0110\u1ed9c gi\u1ea3 g\u1eedi c\u00e2u h\u1ecfi v\u1ec1 s\u1ea3n ph\u1ee5 khoa t\u1ea1i \u0111\u00e2y<\/a> \u0111\u1ec3 b\u00e1c s\u0129 gi\u1ea3i \u0111\u00e1p<\/p>","protected":false},"excerpt":{"rendered":"

TP HCMV\u1ee3 ch\u1ed3ng ch\u1ecb H\u01b0\u01a1ng mang gene l\u1eb7n b\u1ec7nh x\u01a1 nang, thai nhi c\u00f3 hai bi\u1ebfn th\u1ec3 \u1edf v\u1ecb tr\u00ed […]<\/p>","protected":false},"author":5,"featured_media":57158,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[94],"tags":[],"class_list":["post-57157","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-tin-tuc-trong-nuoc"],"acf":[],"_links":{"self":[{"href":"https:\/\/hbbgroup.net\/vi\/wp-json\/wp\/v2\/posts\/57157","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/hbbgroup.net\/vi\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/hbbgroup.net\/vi\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/hbbgroup.net\/vi\/wp-json\/wp\/v2\/users\/5"}],"replies":[{"embeddable":true,"href":"https:\/\/hbbgroup.net\/vi\/wp-json\/wp\/v2\/comments?post=57157"}],"version-history":[{"count":0,"href":"https:\/\/hbbgroup.net\/vi\/wp-json\/wp\/v2\/posts\/57157\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/hbbgroup.net\/vi\/wp-json\/wp\/v2\/media\/57158"}],"wp:attachment":[{"href":"https:\/\/hbbgroup.net\/vi\/wp-json\/wp\/v2\/media?parent=57157"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/hbbgroup.net\/vi\/wp-json\/wp\/v2\/categories?post=57157"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/hbbgroup.net\/vi\/wp-json\/wp\/v2\/tags?post=57157"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}