{"id":170,"date":"2018-10-12T02:32:31","date_gmt":"2018-10-12T02:32:31","guid":{"rendered":"http:\/\/demo.bmconnect.vn\/benhvien\/?p=170"},"modified":"2018-10-12T03:45:39","modified_gmt":"2018-10-12T03:45:39","slug":"vinmec-thanh-cong-sang-loc-phoi-giup-bo-me-mang-gene-benh-thalassemia-sinh-con-khoe-manh","status":"publish","type":"post","link":"https:\/\/demo.bmconnect.vn\/benhvien\/vinmec-thanh-cong-sang-loc-phoi-giup-bo-me-mang-gene-benh-thalassemia-sinh-con-khoe-manh\/","title":{"rendered":"[VINMEC TIMES CITY] VINMEC TH\u00c0NH C\u00d4NG S\u00c0NG L\u1eccC PH\u00d4I GI\u00daP B\u1ed0 M\u1eb8 MANG GENE B\u1ec6NH THALASSEMIA SINH CON KH\u1eceE M\u1ea0NH"},"content":{"rendered":"

V\u1edbi ph\u01b0\u01a1ng ph\u00e1p ch\u1ea9n \u0111o\u00e1n s\u00e0ng l\u1ecdc ti\u1ec1n l\u00e0m t\u1ed5 trong h\u1ed7 tr\u1ee3 sinh s\u1ea3n (PGD), Trung t\u00e2m h\u1ed7 tr\u1ee3 sinh s\u1ea3n B\u1ec7nh vi\u1ec7n \u0110a khoa Qu\u1ed1c t\u1ebf Vinmec Times City \u0111\u00e3 gi\u00fap c\u00e1c c\u1eb7p v\u1ee3 ch\u1ed3ng mang gen b\u1ec7nh Thalassemia sinh \u0111\u01b0\u1ee3c nh\u1eefng em b\u00e9 kh\u1ecfe m\u1ea1nh, lo\u1ea1i tr\u1eeb \u0111\u01b0\u1ee3c nguy c\u01a1 m\u1eafc b\u1ec7nh di truy\u1ec1n trong t\u01b0\u01a1ng lai.<\/strong><\/p>\n

S\u00e0ng l\u1ecdc gen Thalassemia t\u1eeb trong ph\u00f4i thai<\/strong><\/p>\n

Ch\u00e1u Nguy\u1ec5n Thanh A., con g\u00e1i \u0111\u1ea7u l\u00f2ng c\u1ee7a v\u1ee3 ch\u1ed3ng ch\u1ecb Nguy\u1ec5n Th\u1ecb H. (34 tu\u1ed5i, H\u00e0 N\u1ed9i) \u0111\u01b0\u1ee3c ph\u00e1t hi\u1ec7n b\u1ecb b\u1ec7nh tan m\u00e1u b\u1ea9m sinh Thalassemia (hay c\u00f2n g\u1ecdi l\u00e0 tan m\u00e1u b\u1ea9m sinh) khi b\u00e9 v\u1eeba tr\u00f2n 1 tu\u1ed5i. B\u00e9 m\u1eafc b\u1ec7nh do di truy\u1ec1n t\u1eeb b\u1ed1 m\u1eb9, b\u1edfi c\u1ea3 2 v\u1ee3 ch\u1ed3ng ch\u1ecb H. \u0111\u1ec1u mang gen Thalassemia. \u0110\u00e2y l\u00e0 b\u1ec7nh di truy\u1ec1n kh\u00e1 ph\u1ed5 bi\u1ebfn \u1edf Vi\u1ec7t Nam, v\u1edbi t\u1ec9 l\u1ec7 ng\u01b0\u1eddi mang gen b\u1ec7nh l\u00ean t\u1edbi 10 \u2013 15%.<\/p>\n

\u0110\u01b0\u1ee3c \u0111i\u1ec1u tr\u1ecb t\u1ea1i c\u00e1c b\u1ec7nh vi\u1ec7n \u0111\u1ea7u ng\u00e0nh, theo ph\u00e1c \u0111\u1ed3 chu\u1ea9n nh\u01b0ng s\u1ee9c kh\u1ecfe c\u1ee7a b\u00e9 A. v\u1eabn k\u00e9m h\u01a1n h\u1eb3n so v\u1edbi b\u1ea1n c\u00f9ng trang l\u1ee9a, r\u1ea5t hay \u1ed1m v\u1eb7t, g\u1ea7y y\u1ebfu, xanh xao. B\u00e9 \u0111\u00e3 5 tu\u1ed5i nh\u01b0ng ph\u00e1t tri\u1ec3n th\u1ec3 l\u1ef1c v\u00e0 tinh th\u1ea7n \u0111\u1ec1u ch\u1eadm h\u01a1n so v\u1edbi tr\u1ebb c\u00f9ng trang l\u1ee9a, \u0111\u1ed3ng th\u1eddi th\u01b0\u1eddng xuy\u00ean ph\u1ea3i \u0111i b\u1ec7nh vi\u1ec7n truy\u1ec1n m\u00e1u v\u00e0 th\u1ea3i s\u1eaft.<\/p>\n

Khi c\u00f3 \u00fd \u0111\u1ecbnh sinh con th\u1ee9 hai, mong mu\u1ed1n em b\u00e9 sinh ra \u0111\u01b0\u1ee3c kh\u1ecfe m\u1ea1nh, v\u1ee3 ch\u1ed3ng ch\u1ecb H. \u0111\u00e3 t\u00ecm \u0111\u1ebfn Trung t\u00e2m h\u1ed7 tr\u1ee3 sinh s\u1ea3n Vinmec. \u0110\u01b0\u1ee3c c\u00e1c b\u00e1c s\u0129 \u1edf \u0111\u00e2y t\u01b0 v\u1ea5n k\u1ef9 c\u00e0ng, v\u1ee3 ch\u1ed3ng ch\u1ecb quy\u1ebft \u0111\u1ecbnh th\u1ef1c hi\u1ec7n ph\u01b0\u01a1ng ph\u00e1p ch\u1ea9n \u0111o\u00e1n ti\u1ec1n l\u00e0m t\u1ed5 PGD\u00a0 khi l\u00e0m th\u1ee5 tinh \u1ed1ng nghi\u1ec7m.<\/p>\n

Theo ThS.BS L\u00ea Th\u1ecb Ph\u01b0\u01a1ng Lan – Ph\u00f3 Gi\u00e1m \u0111\u1ed1c Trung t\u00e2m H\u1ed7 tr\u1ee3 Sinh s\u1ea3n Vinmec, cho t\u1edbi nay, \u0111\u00e2y l\u00e0 ph\u01b0\u01a1ng ph\u00e1p duy nh\u1ea5t gi\u00fap c\u00e1c c\u1eb7p v\u1ee3 ch\u1ed3ng mang gen Thalassemia c\u00f3 th\u1ec3 sinh ra em b\u00e9 kh\u1ecfe m\u1ea1nh, kh\u00f4ng mang gen b\u1ec7nh Thalassemia.<\/p>\n

C\u00e1c c\u1eb7p v\u1ee3 ch\u1ed3ng mang gen b\u1ec7nh Thalassemia, n\u1ebfu sinh con b\u1eb1ng ph\u01b0\u01a1ng ph\u00e1p t\u1ef1 nhi\u00ean, th\u00ec tr\u1ebb c\u00f3 50% nguy c\u01a1 m\u1eafc b\u1ec7nh, 25% nguy c\u01a1 mang gen b\u1ec7nh. Ch\u1ec9 c\u00f3 25% tr\u01b0\u1eddng h\u1ee3p \u0111\u01b0\u1ee3c kh\u1ecfe m\u1ea1nh b\u00ecnh th\u01b0\u1eddng. Ch\u1ea9n \u0111o\u00e1n ph\u00f4i ti\u1ec1n l\u00e0m t\u1ed5 s\u1ebd gi\u00fap l\u1ef1a ch\u1ecdn \u0111\u01b0\u1ee3c ph\u00f4i kh\u1ecfe m\u1ea1nh, kh\u00f4ng mang gen b\u1ec7nh tr\u01b0\u1edbc khi chuy\u1ec3n v\u00e0o bu\u1ed3ng t\u1eed cung ng\u01b0\u1eddi m\u1eb9.<\/p>\n

\"\"C\u00e1c b\u00e1c s\u0129 Trung t\u00e2m h\u1ed7 tr\u1ee3 sinh s\u1ea3n Vinmec \u0111\u00e3 gi\u00fap v\u1ee3 ch\u1ed3ng ch\u1ecb H. mang thai em b\u00e9 kh\u1ecfe m\u1ea1nh sau khi \u0111\u01b0\u1ee3c chuy\u1ec3n ph\u00f4i \u0111\u00e3 s\u00e0ng l\u1ecdc lo\u1ea1i tr\u1eeb gen b\u1ec7nh.<\/em><\/p>\n

Nh\u1edd k\u1ef9 thu\u1eadt ti\u00ean ti\u1ebfn n\u00e0y, v\u1ee3 ch\u1ed3ng ch\u1ecb H. \u0111\u00e3 \u0111\u01b0\u1ee3c \u0111\u00f3n m\u1ed9t b\u00e9 trai kh\u1ecfe m\u1ea1nh, n\u1eb7ng 3,5 kg. Hi\u1ec7n t\u1ea1i, b\u00e9 \u0111\u00e3 \u0111\u01b0\u1ee3c h\u01a1n 1 tu\u1ed5i, ph\u00e1t tri\u1ec3n b\u00ecnh th\u01b0\u1eddng \u0111\u00fang l\u1ee9a tu\u1ed5i.<\/p>\n

PGD \u0111\u01b0\u1ee3c th\u1ef1c hi\u1ec7n nh\u01b0 th\u1ebf n\u00e0o?<\/strong><\/p>\n

Ch\u1ea9n \u0111o\u00e1n ti\u1ec1n l\u00e0m t\u1ed5 PGD (Preimplantation genetic diagnosis) l\u00e0 m\u1ed9t k\u1ef9 thu\u1eadt trong h\u1ed7 tr\u1ee3 sinh s\u1ea3n. Theo b\u00e1c s\u0129 L\u00ea Ph\u01b0\u01a1ng Lan, mu\u1ed1n th\u1ef1c hi\u1ec7n PGD, c\u00e1c c\u1eb7p v\u1ee3 ch\u1ed3ng mang gen Thalassemia c\u1ea7n ph\u1ea3i mang b\u1ea7u b\u1eb1ng ph\u01b0\u01a1ng ph\u00e1p th\u1ee5 tinh \u1ed1ng nghi\u1ec7m. Ph\u00f4i \u0111\u01b0\u1ee3c nu\u00f4i c\u1ea5y \u0111\u1ebfn giai \u0111o\u1ea1n ph\u00f4i nang th\u00ec s\u1ebd \u0111\u01b0\u1ee3c sinh thi\u1ebft, l\u1ea5y ra m\u1ed9t s\u1ed1 t\u1ebf b\u00e0o. Sau \u0111\u00f3, c\u00e1c t\u1ebf b\u00e0o n\u00e0y \u0111\u01b0\u1ee3c \u0111em \u0111i ti\u1ebfn h\u00e0nh c\u00e1c k\u1ef9 thu\u1eadt di truy\u1ec1n \u0111\u1ec3 x\u00e1c \u0111\u1ecbnh xem ph\u00f4i c\u00f3 mang b\u1ec7nh ho\u1eb7c mang gen b\u1ec7nh Thalassemia hay kh\u00f4ng. Ph\u00f4i kh\u1ecfe m\u1ea1nh s\u1ebd \u0111\u01b0\u1ee3c chuy\u1ec3n l\u1ea1i v\u00e0o t\u1eed cung ng\u01b0\u1eddi m\u1eb9 trong chu k\u1ef3 chuy\u1ec3n ph\u00f4i \u0111\u00f4ng l\u1ea1nh.<\/p>\n

\"\"<\/em>Ch\u1ea9n \u0111o\u00e1n ti\u1ec1n l\u00e0m t\u1ed5 PGD l\u00e0 m\u1ed9t k\u1ef9 thu\u1eadt kh\u00f3 trong h\u1ed7 tr\u1ee3 sinh s\u1ea3n \u0111\u00f2i h\u1ecfi c\u00e1c thi\u1ebft b\u1ecb hi\u1ec7n \u0111\u1ea1i v\u00e0 k\u1ef9 n\u0103ng thu\u1ea7n th\u1ee5c c\u1ee7a c\u00e1n b\u1ed9 y t\u1ebf m\u1edbi \u0111\u1ea1t hi\u1ec7u qu\u1ea3 s\u00e0ng l\u1ecdc cao.<\/em><\/p>\n

\u0110\u00e2y l\u00e0 m\u1ed9t k\u1ef9 thu\u1eadt kh\u00f3, kh\u00f4ng ch\u1ec9 \u0111\u00f2i h\u1ecfi trang thi\u1ebft b\u1ecb, m\u00e1y m\u00f3c ti\u00ean ti\u1ebfn, m\u00e0 c\u00f2n y\u00eau c\u1ea7u ki\u1ebfn th\u1ee9c chuy\u00ean s\u00e2u v\u00e0 k\u1ef9 n\u0103ng thu\u1ea7n th\u1ee5c c\u1ee7a b\u00e1c s\u0129, k\u1ef9 thu\u1eadt vi\u00ean th\u1ef1c hi\u1ec7n.<\/p>\n

V\u1edbi v\u1ee3 ch\u1ed3ng ch\u1ecb H, k\u1ebft qu\u1ea3 s\u00e0ng l\u1ecdc sau th\u1ee5 tinh \u1ed1ng nghi\u1ec7m t\u1ea1i Vinmec cho th\u1ea5y, trong 7 ph\u00f4i, c\u00f3 5 ph\u00f4i b\u00ecnh th\u01b0\u1eddng, kh\u00f4ng mang gen b\u1ec7nh. Ch\u1ecb H. mang thai ngay t\u1eeb l\u1ea7n \u0111\u1ea7u ti\u00ean chuy\u1ec3n ph\u00f4i v\u00e0 \u0111\u01b0\u1ee3c c\u00e1c b\u00e1c s\u0129 t\u1ea1i Trung t\u00e2m theo d\u00f5i, ch\u0103m s\u00f3c c\u1ea9n th\u1eadn trong su\u1ed1t thai k\u1ef3. Nh\u1edd ch\u1ea9n \u0111o\u00e1n lo\u1ea1i tr\u1eeb Thalassemia t\u1eeb tr\u01b0\u1edbc khi chuy\u1ec3n ph\u00f4i, em b\u00e9 ch\u00e0o \u0111\u1eddi m\u00e0 kh\u00f4ng b\u1ecb di truy\u1ec1n b\u1ec7nh t\u1eeb b\u1ed1 m\u1eb9.<\/p>\n

V\u1ee3 ch\u1ed3ng ch\u1ecb H l\u00e0 m\u1ed9t trong 4 tr\u01b0\u1eddng h\u1ee3p \u0111\u1ea7u ti\u00ean th\u00e0nh c\u00f4ng th\u1ee5 tinh trong \u1ed1ng nghi\u1ec7m sau khi s\u00e0ng l\u1ecdc ph\u00f4i lo\u1ea1i tr\u1eeb gen b\u1ec7nh Thalassemia. C\u1ea3 4 c\u1eb7p v\u1ee3 ch\u1ed3ng \u0111\u1ec1u \u0111\u00e3 ch\u1ecdn \u0111\u01b0\u1ee3c ph\u00f4i kh\u1ecfe m\u1ea1nh kh\u00f4ng mang gen b\u1ec7nh. Hi\u1ec7n t\u1ea1i \u0111\u00e3 c\u00f3 3 trong s\u1ed1 4 c\u1eb7p v\u1ee3 ch\u1ed3ng th\u1ef1c hi\u1ec7n chuy\u1ec3n ph\u00f4i kh\u1ecfe m\u1ea1nh, trong \u0111\u00f3 1 c\u1eb7p \u0111\u00e3 sinh em b\u00e9, 2 c\u1eb7p c\u00f2n l\u1ea1i \u0111ang mang thai ngo\u00e0i 12 tu\u1ea7n.\u00a0 Ngo\u00e0i c\u0103n b\u1ec7nh di truy\u1ec1n n\u00e0y, Trung t\u00e2m H\u1ed7 tr\u1ee3 Sinh s\u1ea3n Vinmec \u0111\u00e3 th\u1ef1c hi\u1ec7n c\u00e1c ch\u1ea9n \u0111o\u00e1n, s\u00e0ng l\u1ecdc c\u00e1c b\u1ea5t th\u01b0\u1eddng th\u01b0\u1eddng g\u1eb7p v\u1ec1 nhi\u1ec5m s\u1eafc th\u1ec3 nh\u01b0 h\u1ed9i ch\u1ee9ng Down, Turner, Klinefelter, \u2026<\/p>\n","protected":false},"excerpt":{"rendered":"

V\u1edbi ph\u01b0\u01a1ng ph\u00e1p ch\u1ea9n \u0111o\u00e1n s\u00e0ng l\u1ecdc ti\u1ec1n l\u00e0m t\u1ed5 trong h\u1ed7 tr\u1ee3 sinh s\u1ea3n (PGD), Trung t\u00e2m h\u1ed7 tr\u1ee3 sinh s\u1ea3n B\u1ec7nh vi\u1ec7n \u0110a khoa Qu\u1ed1c t\u1ebf Vinmec Times City \u0111\u00e3 gi\u00fap c\u00e1c c\u1eb7p v\u1ee3 ch\u1ed3ng mang gen b\u1ec7nh Thalassemia sinh \u0111\u01b0\u1ee3c nh\u1eefng em b\u00e9 kh\u1ecfe m\u1ea1nh, lo\u1ea1i tr\u1eeb \u0111\u01b0\u1ee3c nguy c\u01a1 m\u1eafc b\u1ec7nh …<\/p>\n","protected":false},"author":1,"featured_media":171,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":[],"categories":[10,3],"tags":[4,5],"_links":{"self":[{"href":"https:\/\/demo.bmconnect.vn\/benhvien\/wp-json\/wp\/v2\/posts\/170"}],"collection":[{"href":"https:\/\/demo.bmconnect.vn\/benhvien\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/demo.bmconnect.vn\/benhvien\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/demo.bmconnect.vn\/benhvien\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/demo.bmconnect.vn\/benhvien\/wp-json\/wp\/v2\/comments?post=170"}],"version-history":[{"count":0,"href":"https:\/\/demo.bmconnect.vn\/benhvien\/wp-json\/wp\/v2\/posts\/170\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/demo.bmconnect.vn\/benhvien\/wp-json\/wp\/v2\/media\/171"}],"wp:attachment":[{"href":"https:\/\/demo.bmconnect.vn\/benhvien\/wp-json\/wp\/v2\/media?parent=170"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/demo.bmconnect.vn\/benhvien\/wp-json\/wp\/v2\/categories?post=170"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/demo.bmconnect.vn\/benhvien\/wp-json\/wp\/v2\/tags?post=170"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}