{"id":147103,"date":"2024-01-05T07:56:52","date_gmt":"2024-01-05T07:56:52","guid":{"rendered":"https:\/\/labinsights.com\/acf_article\/dai-loan-sang-loc-tre-so-sinh-mac-benh-loan-duong-co-duchenne-nhu-the-nao\/"},"modified":"2026-01-27T09:46:51","modified_gmt":"2026-01-27T09:46:51","slug":"how-taiwan-screens-newborns-for-duchenne-muscular-dystrophy","status":"publish","type":"acf_article","link":"https:\/\/labinsights.com\/vi\/disease-area\/newborn-screening\/how-taiwan-screens-newborns-for-duchenne-muscular-dystrophy\/","title":{"rendered":"\u0110\u00e0i Loan s\u00e0ng l\u1ecdc tr\u1ebb s\u01a1 sinh m\u1eafc b\u1ec7nh lo\u1ea1n d\u01b0\u1ee1ng c\u01a1 Duchenne nh\u01b0 th\u1ebf n\u00e0o"},"content":{"rendered":"

\u0110\u00e0i Loan l\u00e0 m\u1ed9t trong s\u1ed1 \u00edt qu\u1ed1c gia v\u00e0 v\u00f9ng l\u00e3nh th\u1ed5 tr\u00ean th\u1ebf gi\u1edbi th\u01b0\u1eddng xuy\u00ean s\u00e0ng l\u1ecdc h\u1ea7u h\u1ebft tr\u1ebb s\u01a1 sinh m\u1eafc b\u1ec7nh lo\u1ea1n d\u01b0\u1ee1ng c\u01a1 Duchenne (DMD), m\u1ed9t b\u1ec7nh di truy\u1ec1n nghi\u00eam tr\u1ecdng ch\u1ee7 y\u1ebfu \u1ea3nh h\u01b0\u1edfng tr\u00ean tre\u0309 nam. Tuy nhi\u00ean, v\u1edbi nh\u1eefng ti\u1ebfn b\u1ed9 khoa h\u1ecdc li\u00ean t\u1ee5c trong ti\u0300m hi\u00ea\u0309u v\u00e0 \u0111i\u1ec1u tr\u1ecb DMD (Duchenne muscular dystrophy, lo\u1ea1n d\u01b0\u1ee1ng c\u01a1 Duchenne), nhi\u1ec1u qu\u1ed1c gia c\u00f3 th\u1ec3 s\u1ebd c\u00e2n nh\u1eafc b\u1ed5 sung c\u0103n b\u1ec7nh n\u00e0y v\u00e0o danh s\u00e1ch s\u00e0ng l\u1ecdc s\u01a1 sinh (NBS) trong t\u01b0\u01a1ng lai g\u1ea7n.<\/p>\n

DMD (Duchenne muscular dystrophy, lo\u1ea1n d\u01b0\u1ee1ng c\u01a1 Duchenne) l\u00e0 m\u1ed9t c\u0103n b\u1ec7nh \u0111\u1ea7y th\u00e1ch th\u1ee9c, g\u00e2y m\u1ea5t ch\u1ee9c n\u0103ng c\u01a1 ti\u00ea\u0301n tri\u00ea\u0309n v\u00e0 t\u1eed vong s\u1edbm. H\u1ea7u h\u1ebft tr\u1ebb nam m\u1eafc DMD (Duchenne muscular dystrophy, lo\u1ea1n d\u01b0\u1ee1ng c\u01a1 Duchenne) \u0111\u1ec1u kh\u1ecfe m\u1ea1nh ngay khi sinh ra v\u00e0 ch\u1ec9 b\u1eaft \u0111\u1ea7u co\u0301 c\u00e1c d\u1ea5u hi\u1ec7u c\u1ee7a b\u1ec7nh, \u0111\u1eb7c bi\u1ec7t l\u00e0 y\u1ebfu c\u01a1 v\u00e0 kh\u00f3 kh\u0103n trong v\u1eadn \u0111\u1ed9ng, trong giai \u0111oa\u0323n \u0111\u00e2\u0300u \u0111\u01a1\u0300i. Kh\u01a1\u0309i pha\u0301t th\u01b0\u01a1\u0300ng ch\u1eadm v\u00e0 kho\u0301 pha\u0301t hi\u00ea\u0323n, qua\u0301 tr\u00ecnh ch\u1ea9n \u0111o\u00e1n c\u00f3 th\u1ec3 ke\u0301o d\u00e0i, t\u1ed1n k\u00e9m v\u00e0 g\u00e2y kh\u00f3 kh\u0103n v\u1ec1 m\u0103\u0323t ca\u0309m xu\u0301c ng\u01b0\u1eddi ch\u0103m s\u00f3c.<\/p>\n

Khi b\u1ed5 sung DMD (Duchenne muscular dystrophy, lo\u1ea1n d\u01b0\u1ee1ng c\u01a1 Duchenne) v\u00e0o danh sa\u0301ch NBS (newborn screening, s\u00e0ng l\u1ecdc s\u01a1 sinh), m\u1ed9t s\u1ed1 ng\u01b0\u1eddi hy v\u1ecdng r\u1eb1ng vi\u1ec7c ph\u00e1t hi\u1ec7n s\u1edbm b\u1ec7nh s\u1ebd tr\u00e1nh \u0111\u01b0\u1ee3c qu\u00e1 tr\u00ecnh ch\u1ea9n \u0111o\u00e1n k\u00e9o d\u00e0i, cho ph\u00e9p \u0111i\u1ec1u tr\u1ecb ch\u1ee7 \u0111\u1ed9ng v\u00e0 c\u00f3 th\u00eam th\u1eddi gian \u0111\u00ea\u0309 \u0111\u01b0a ra quy\u1ebft \u0111\u1ecbnh hoa\u0323ch \u0111i\u0323nh cu\u00f4\u0323c s\u00f4\u0301ng tr\u01b0\u01a1\u0301c, t\u1eeb \u0111\u00f3 c\u1ea3i thi\u1ec7n k\u1ebft qu\u1ea3 \u0111i\u1ec1u tr\u1ecb cho c\u1ea3 b\u1ec7nh nh\u00e2n v\u00e0 ng\u01b0\u1eddi ch\u0103m s\u00f3c. M\u1ed9t nghi\u00ean c\u1ee9u g\u1ea7n \u0111\u00e2y c\u1ee7a t\u00f4\u0309 ch\u01b0\u0301c EveryLife v\u00ea\u0300 ca\u0301c b\u00ea\u0323nh hi\u00ea\u0301m g\u0103\u0323p, m\u00f4\u0323t nh\u00f3m nghi\u00ean c\u1ee9u v\u00e0 v\u1eadn \u0111\u1ed9ng chi\u0301nh sa\u0301ch t\u1ea1i Hoa K\u1ef3, ch\u1ec9 ra r\u1eb1ng ch\u1ea9n \u0111o\u00e1n s\u1edbm c\u0169ng c\u00f3 th\u1ec3 gi\u00fap ti\u1ebft ki\u1ec7m \u0111\u00e1ng k\u1ec3 chi ph\u00ed cho h\u1ec7 th\u1ed1ng ch\u0103m s\u00f3c s\u1ee9c kh\u1ecfe [1].<\/p>\n

\u0110\u1ec3 hi\u1ec3u r\u00f5 h\u01a1n v\u1ec1 nh\u1eefng c\u00e2n nh\u1eafc th\u1ef1c t\u1ebf v\u00e0 l\u1ee3i \u00edch ti\u1ec1m n\u0103ng c\u1ee7a NBS (newborn screening, s\u00e0ng l\u1ecdc s\u01a1 sinh) \u0111\u1ed1i v\u1edbi DMD (Duchenne muscular dystrophy, lo\u1ea1n d\u01b0\u1ee1ng c\u01a1 Duchenne), Lab Insights \u0111\u00e3 trao \u0111\u1ed5i v\u1edbi Ba\u0301c s\u0129 Yin-Hsiu Chien, b\u00e1c s\u0129 nhi khoa v\u00e0 nh\u00e0 di truy\u1ec1n y h\u1ecdc hi\u1ec7n \u0111ang \u0111i\u1ec1u h\u00e0nh Trung t\u00e2m S\u00e0ng l\u1ecdc S\u01a1 sinh t\u1ea1i B\u1ec7nh vi\u1ec7n \u0110\u1ea1i h\u1ecdc Qu\u1ed1c gia \u0110\u00e0i Loan (NTUH). Ngo\u00e0i vi\u1ec7c d\u1eabn d\u1eaft ch\u01b0\u01a1ng tr\u00ecnh th\u00ed \u0111i\u1ec3m NBS (newborn screening, s\u00e0ng l\u1ecdc s\u01a1 sinh) cho DMD (Duchenne muscular dystrophy, lo\u1ea1n d\u01b0\u1ee1ng c\u01a1 Duchenne) t\u1ea1i NTUH (National Taiwan University Hospital, B\u1ec7nh vi\u1ec7n \u0110\u1ea1i h\u1ecdc Qu\u1ed1c gia \u0110\u00e0i Loan), b\u00e0 c\u00f2n l\u00e0 t\u00e1c gi\u1ea3 ch\u00ednh c\u1ee7a m\u1ed9t b\u00e0i b\u00e1o khoa ho\u0323c trong \u0111o\u0301 m\u00f4 t\u1ea3 ph\u01b0\u01a1ng ph\u00e1p v\u00e0 k\u1ebft qu\u1ea3 c\u1ee7a ch\u01b0\u01a1ng tr\u00ecnh [2].<\/p>\n

Ra m\u0103\u0301t ch\u01b0\u01a1ng tr\u00ecnh th\u00ed \u0111i\u1ec3m s\u00e0ng l\u1ecdc DMD (Duchenne muscular dystrophy, lo\u1ea1n d\u01b0\u1ee1ng c\u01a1 Duchenne)<\/h2>\n

NBS (newborn screening, s\u00e0ng l\u1ecdc s\u01a1 sinh) b\u1ec7nh DMD (Duchenne muscular dystrophy, lo\u1ea1n d\u01b0\u1ee1ng c\u01a1 Duchenne) \u0111\u01b0\u1ee3c th\u00ed \u0111i\u1ec3m l\u1ea7n \u0111\u1ea7u ti\u00ean v\u00e0o th\u00e1ng 2 n\u0103m 2021 t\u1ea1i NTUH (National Taiwan University Hospital, B\u1ec7nh vi\u1ec7n \u0110\u1ea1i h\u1ecdc Qu\u1ed1c gia \u0110\u00e0i Loan), \u0111\u01a1n v\u1ecb v\u1eadn h\u00e0nh m\u1ed9t trong ba trung t\u00e2m NBS c\u00f4ng l\u00e2\u0323p t\u1ea1i \u0110\u00e0i Loan. Do \u0111\u00f3, Ba\u0301c s\u0129 Chien v\u00e0 c\u00e1c \u0111\u1ed3ng nghi\u1ec7p t\u1ea1i NTUH (National Taiwan University Hospital, B\u1ec7nh vi\u1ec7n \u0110\u1ea1i h\u1ecdc Qu\u1ed1c gia \u0110\u00e0i Loan) l\u00e0 nh\u1eefng chuy\u00ean gia \u0111\u1ea7u ti\u00ean \u1edf \u0110\u00e0i Loan – v\u00e0 tr\u00ean th\u1ebf gi\u1edbi – nh\u1eadn ra nh\u1eefng l\u1ee3i \u00edch ti\u1ec1m n\u0103ng c\u1ee7a vi\u1ec7c s\u00e0ng l\u1ecdc DMD (Duchenne muscular dystrophy, lo\u1ea1n d\u01b0\u1ee1ng c\u01a1 Duchenne).<\/p>\n

Ba\u0301c s\u0129 Chien cho bi\u1ebft: \u201cCh\u00fang t\u00f4i th\u1ea5y t\u1ea7m so\u00e1t DMD (Duchenne muscular dystrophy, lo\u1ea1n d\u01b0\u1ee1ng c\u01a1 Duchenne) r\u1ea5t quan tr\u1ecdng v\u00ec nhi\u1ec1u l\u00fd do.\u201d \u201cB\u1ec7nh \u1ea3nh h\u01b0\u1edfng \u0111\u1ebfn kho\u1ea3ng 1\/5.000 tr\u1ebb nam s\u1ed1ng \u0111\u01b0\u01a1\u0323c, do \u0111\u00f3 t\u1ef7 l\u1ec7 m\u1eafc t\u01b0\u01a1ng \u0111\u1ed1i cao so v\u1edbi c\u00e1c b\u1ec7nh di truy\u1ec1n hi\u1ebfm g\u1eb7p kh\u00e1c. \u0110\u00e2y c\u0169ng l\u00e0 m\u1ed9t b\u1ec7nh li\u00ean quan \u0111\u1ebfn nhi\u1ec5m s\u1eafc th\u1ec3 X, v\u00e0 co\u0301 nguy c\u01a1 t\u00e1i ph\u00e1t cao, vi\u1ec7c ph\u00e1t hi\u1ec7n s\u1edbm c\u0169ng c\u00f3 th\u1ec3 gi\u00fap c\u00e1c b\u1eadc cha m\u1eb9 l\u1eadp k\u1ebf ho\u1ea1ch sinh s\u1ea3n. Cu\u1ed1i c\u00f9ng v\u00e0 quan tr\u1ecdng nh\u1ea5t, nhi\u1ec1u ph\u01b0\u01a1ng ph\u00e1p \u0111i\u1ec1u tr\u1ecb \u0111\u1ea7y h\u1ee9a h\u1eb9n \u0111ang \u0111\u01b0\u1ee3c ph\u00e1t tri\u1ec3n, v\u00e0 ch\u00fang t\u00f4i bi\u1ebft r\u1eb1ng can thi\u1ec7p s\u1edbm giu\u0301p t\u0103ng kha\u0309 n\u0103ng mang l\u1ea1i ti\u00ean l\u01b0\u1ee3ng t\u1ed1t h\u01a1n.\u201d<\/p>\n

Ba\u0301c s\u0129 Chien c\u0169ng l\u01b0u \u00fd r\u1eb1ng b\u1ed9 d\u1ee5ng c\u1ee5 IVD (In Vitro Diagnostics, ch\u1ea9n \u0111o\u00e1n trong \u1ed1ng nghi\u1ec7m) \u0111\u01b0\u1ee3c FDA (Food and Drug Administration, C\u1ee5c qu\u1ea3n l\u00fd Th\u1ef1c ph\u1ea9m v\u00e0 D\u01b0\u1ee3c ph\u1ea9m Hoa K\u1ef3) ph\u00ea duy\u1ec7t \u0111\u1ec3 s\u00e0ng l\u1ecdc DMD \u0111\u00e3 c\u00f3 s\u1eb5n v\u00e0o th\u1eddi \u0111i\u1ec3m NTUH (National Taiwan University Hospital, B\u1ec7nh vi\u1ec7n \u0110\u1ea1i h\u1ecdc Qu\u1ed1c gia \u0110\u00e0i Loan) tri\u1ec3n khai th\u1eed nghi\u1ec7m, cho ph\u00e9p h\u1ecd b\u1eaft \u0111\u1ea7u nhanh h\u01a1n so v\u1edbi c\u00e1c nghi\u00ean c\u1ee9u tr\u01b0\u1edbc \u0111\u00e2y \u1edf c\u00e1c qu\u1ed1c gia v\u00e0 v\u00f9ng l\u00e3nh th\u1ed5 kh\u00e1c. K\u1ebft qu\u1ea3 t\u1eeb th\u1eed nghi\u1ec7m n\u00e0y cho th\u00e2\u0301y co\u0301 50.572 tr\u1ebb s\u01a1 sinh \u0111\u1ea7u ti\u00ean va\u0300 \u0111a\u0303 x\u00e1c \u0111\u1ecbnh \u0111\u01b0\u1ee3c 3 tr\u01b0\u1eddng h\u1ee3p ch\u00e2\u0309n \u0111oa\u0301n m\u0103\u0301c DMD (Duchenne muscular dystrophy, lo\u1ea1n d\u01b0\u1ee1ng c\u01a1 Duchenne), \u0111\u01b0\u1ee3c c\u00f4ng b\u1ed1 v\u00e0o th\u00e1ng 5 n\u0103m 2022. K\u1ec3 t\u1eeb \u0111\u00f3, hai trung t\u00e2m s\u00e0ng l\u1ecdc DMD (Duchenne muscular dystrophy, lo\u1ea1n d\u01b0\u1ee1ng c\u01a1 Duchenne) kh\u00e1c c\u1ee7a NBS (newborn screening, s\u00e0ng l\u1ecdc s\u01a1 sinh) t\u1ea1i \u0110\u00e0i Loan c\u0169ng \u0111\u00e3 \u00e1p d\u1ee5ng s\u00e0ng l\u1ecdc DMD.<\/p>\n

Ng\u00e0y nay, s\u00e0ng l\u1ecdc DMD (Duchenne muscular dystrophy, lo\u1ea1n d\u01b0\u1ee1ng c\u01a1 Duchenne) \u0111\u01b0\u1ee3c cung c\u1ea5p cho tr\u1ebb s\u01a1 sinh t\u1ea1i \u0110\u00e0i Loan nh\u01b0 m\u1ed9t ph\u1ea7n c\u1ee7a “sa\u0300ng lo\u0323c m\u1edf r\u1ed9ng”, n\u0103\u0300m ngoa\u0300i danh sa\u0301ch xe\u0301t nghi\u00ea\u0323m sa\u0300ng lo\u0323c do ch\u00ednh ph\u1ee7 t\u00e0i tr\u1ee3 v\u00e0 y\u00eau c\u1ea7u cha m\u1eb9 ph\u1ea3i t\u1ef1 chi tr\u1ea3. H\u01a1n 90% cha m\u1eb9 \u1edf \u0110\u00e0i Loan l\u1ef1a ch\u1ecdn sa\u0300ng lo\u0323c m\u1edf r\u1ed9ng, v\u00ec v\u1eady \u0111\u1ea1i \u0111a s\u1ed1 tr\u1ebb s\u01a1 sinh \u0110\u00e0i Loan hi\u1ec7n \u0111\u01b0\u1ee3c s\u00e0ng l\u1ecdc\u00a0DMD (Duchenne muscular dystrophy, lo\u1ea1n d\u01b0\u1ee1ng c\u01a1 Duchenne) ngay khi sinh (xem ph\u1ea7n H\u1ecfi & \u0110\u00e1p tr\u01b0\u1edbc \u0111\u00f3 v\u1edbi Ba\u0301c s\u0129 Chien tr\u00ean Lab Insights<\/a> \u0111\u1ec3 bi\u1ebft th\u00eam th\u00f4ng tin v\u1ec1 c\u01a1 c\u1ea5u h\u1ec7 th\u1ed1ng NBS {newborn screening, s\u00e0ng l\u1ecdc s\u01a1 sinh} c\u1ee7a \u0110\u00e0i Loan).<\/p>\n

C\u00e1ch s\u00e0ng l\u1ecdc DMD (Duchenne muscular dystrophy, lo\u1ea1n d\u01b0\u1ee1ng c\u01a1 Duchenne) \u1edf \u0110\u00e0i Loan<\/h2>\n

S\u00e0ng l\u1ecdc b\u0103\u0300ng xe\u0301t nghi\u00ea\u0323m ho\u0301a sinh trong b\u1ec7nh DMD (Duchenne muscular dystrophy, lo\u1ea1n d\u01b0\u1ee1ng c\u01a1 Duchenne) b\u0103\u0300ng ca\u0301ch \u0111o n\u1ed3ng \u0111\u1ed9 creatine kinase (CK-MM), m\u1ed9t d\u1ea5u hi\u1ec7u xu\u00e2\u0301t hi\u00ea\u0323n khi t\u1ed5n th\u01b0\u01a1ng c\u01a1, th\u01b0\u1eddng t\u0103ng cao ngay trong giai \u0111oa\u0323n sinh \u1edf nh\u1eefng b\u1ec7nh nh\u00e2n m\u1eafc b\u1ec7nh n\u00e0y. C\u00e1c m\u1eabu ban \u0111\u1ea7u \u0111\u01b0\u1ee3c l\u1ea5y t\u1eeb c\u00f9ng m\u1eabu m\u00e1u kh\u00f4 (DBS) \u0111\u01b0\u1ee3c s\u1eed d\u1ee5ng cho c\u00e1c x\u00e9t nghi\u1ec7m NBS (newborn screening, s\u00e0ng l\u1ecdc s\u01a1 sinh) kh\u00e1c; c\u00e1c m\u1eabu ti\u1ebfp theo s\u1ebd c\u1ea7n l\u1ea5y th\u00eam m\u00e1u.<\/p>\n

Trong nghi\u00ean c\u1ee9u th\u00ed \u0111i\u1ec3m t\u1ea1i NTUH (National Taiwan University Hospital, B\u1ec7nh vi\u1ec7n \u0110\u1ea1i h\u1ecdc Qu\u1ed1c gia \u0110\u00e0i Loan), Ba\u0301c s\u0129 Chien v\u00e0 c\u00e1c c\u1ed9ng s\u1ef1 \u0111\u00e3 quy\u1ebft \u0111\u1ecbnh \u00e1p d\u1ee5ng m\u1ed9t quy tr\u00ecnh nhi\u1ec1u b\u01b0\u1edbc, b\u1eaft \u0111\u1ea7u b\u1eb1ng vi\u1ec7c \u0111o n\u1ed3ng \u0111\u1ed9 CK-MM trong v\u00f2ng v\u00e0i ng\u00e0y sau sinh. Tr\u1ebb s\u01a1 sinh n\u1eb1m trong 1% cao nh\u1ea5t c\u1ee7a ng\u01b0\u1ee1ng CK-MM, \u0111\u1ea1t 750 ng\/mL tr\u1edf l\u00ean \u0111\u1ed1i v\u1edbi tr\u1ebb s\u01a1 sinh \u0111\u1ee7 th\u00e1ng v\u00e0 650 ng\/mL \u0111\u1ed1i v\u1edbi tr\u1ebb sinh non, \u0111\u01b0\u1ee3c \u0111\u00e1nh d\u1ea5u \u0111\u1ec3 x\u00e9t nghi\u1ec7m l\u1ea1i. Kho\u1ea3ng gi\u1edbi h\u1ea1n n\u00e0y, \u0111\u01b0\u1ee3c tham chi\u00ea\u0301u d\u1ef1a tr\u00ean m\u1ed9t nghi\u00ean c\u1ee9u tr\u01b0\u1edbc \u0111\u00e2y \u1edf Trung Qu\u1ed1c, \u0111\u01b0\u1ee3c thi\u1ebft k\u1ebf \u0111\u1ec3 h\u1ea1n ch\u1ebf c\u00e1c tr\u01b0\u1eddng h\u1ee3p d\u01b0\u01a1ng t\u00ednh gi\u1ea3 nh\u01b0ng kh\u00f4ng l\u00e0m m\u1ea5t b\u1ea5t k\u1ef3 tr\u01b0\u1eddng h\u1ee3p d\u01b0\u01a1ng t\u00ednh th\u1eadt n\u00e0o.<\/p>\n

Tr\u1ebb s\u01a1 sinh thu\u1ed9c nh\u00f3m 1% c\u00f3 nguy c\u01a1 cao nh\u1ea5t sau \u0111\u00f3 \u0111\u01b0\u1ee3c x\u00e9t nghi\u1ec7m l\u1ea1i sau hai tu\u1ea7n, v\u00e0 nh\u1eefng tr\u1ebb c\u00f3 gi\u00e1 tr\u1ecb CK-MM \u00edt nh\u1ea5t 300 ng\/mL tr\u1edf l\u00ean \u0111\u01b0\u1ee3c x\u00e9t nghi\u1ec7m l\u1ea1i l\u1ea7n th\u1ee9 ba. C\u00e1c em c\u0169ng \u0111\u01b0\u1ee3c khai th\u00e1c ti\u1ec1n s\u1eed gia \u0111\u00ecnh \u0111\u1ec3 \u0111\u00e1nh gi\u00e1 c\u00e1c y\u1ebfu t\u1ed1 nguy c\u01a1 b\u1ed5 sung v\u00e0 \u0111\u01b0\u1ee3c x\u00e9t nghi\u1ec7m th\u00eam th\u00f4ng qua ba\u0309ng gi\u1ea3i tr\u00ecnh t\u1ef1 gen th\u1ebf h\u1ec7 m\u1edbi (NGS) bao g\u1ed3m b\u1ec7nh DMD (Duchenne muscular dystrophy, lo\u1ea1n d\u01b0\u1ee1ng c\u01a1 Duchenne) v\u00e0 c\u00e1c b\u1ec7nh l\u00fd th\u1ea7n kinh c\u01a1 kh\u00e1c (x\u00e9t nghi\u1ec7m NGS \u0111\u01b0\u1ee3c th\u1ef1c hi\u1ec7n tr\u00ean c\u00f9ng m\u1ed9t m\u1eabu m\u00e1u kh\u00f4 \u0111\u00e3 \u0111\u01b0\u1ee3c thu th\u1eadp l\u00fac sinh).<\/p>\n

Kh\u00e1m ph\u00e1 c\u00e1c quy tri\u0300nh thay th\u1ebf<\/h2>\n

M\u1ed9t th\u00e1ch th\u1ee9c v\u1edbi CK-MM l\u00e0 n\u00f3 kh\u00f4ng ph\u1ea3i l\u00e0 m\u1ed9t d\u1ea5u \u1ea5n sinh h\u1ecdc c\u00f3 \u0111\u1ed9 \u0111\u1eb7c hi\u1ec7u cao cho b\u1ec7nh DMD (Duchenne muscular dystrophy, lo\u1ea1n d\u01b0\u1ee1ng c\u01a1 Duchenne). N\u1ed3ng \u0111\u1ed9 CK-MM t\u0103ng cao c\u0169ng c\u00f3 th\u1ec3 do ch\u1ea5n th\u01b0\u01a1ng khi sinh ho\u1eb7c c\u00e1c t\u00ecnh tra\u0323ng kh\u00e1c, v\u00ec v\u1eady vi\u1ec7c s\u00e0ng l\u1ecdc ban \u0111\u1ea7u \u1edf tr\u1ebb s\u01a1 sinh th\u01b0\u1eddng cho t\u1ef7 l\u1ec7 d\u01b0\u01a1ng t\u00ednh gi\u1ea3 cao. Do \u0111\u00f3, c\u00e1c quy tri\u0300nh thay th\u1ebf \u0111\u00e3 \u0111\u01b0\u1ee3c \u0111\u01b0a ra trong nhi\u1ec1u nghi\u00ean c\u1ee9u kh\u00e1c nhau nh\u1eb1m c\u1ea3i thi\u1ec7n \u0111\u1ed9 ch\u00ednh x\u00e1c c\u1ee7a x\u00e9t nghi\u1ec7m.<\/p>\n

M\u1ed9t s\u1ed1 nghi\u00ean c\u1ee9u \u0111\u00e3 ch\u1ecdn ng\u01b0\u1ee1ng c\u1eaft kh\u00e1c nhau \u0111\u1ec3 x\u00e9t nghi\u1ec7m l\u1ea1i CK-MM. “C\u00e1c nghi\u00ean c\u1ee9u tr\u01b0\u1edbc \u0111\u00e2y cho th\u1ea5y n\u1ed3ng \u0111\u1ed9 CK-MM trong DMD (Duchenne muscular dystrophy, lo\u1ea1n d\u01b0\u1ee1ng c\u01a1 Duchenne) th\u01b0\u1eddng tr\u00ean 1.000 ng\/mL \u1edf tr\u1ebb s\u01a1 sinh, trong khi n\u1ed3ng \u0111\u1ed9 CK-MM t\u0103ng tho\u00e1ng qua th\u01b0\u1eddng n\u1eb1m trong kho\u1ea3ng 400-500 ng\/mL”, Ba\u0301c s\u0129 Chien nh\u1eadn x\u00e9t. “Tuy nhi\u00ean, m\u1eb7c d\u00f9 \u0111\u00e3 ph\u00e2n nho\u0301m sa\u0300ng lo\u0323c t\u00f4\u0301t r\u00f4\u0300i, ch\u00fang t\u00f4i v\u1eabn ti\u1ebfp t\u1ee5c s\u00e0ng l\u1ecdc l\u1ea1i 1% \u0111\u1ed1i t\u01b0\u1ee3ng h\u00e0ng \u0111\u1ea7u v\u00ec mu\u1ed1n h\u1ea1n ch\u1ebf nguy c\u01a1 \u00e2m t\u00ednh gi\u1ea3.”<\/p>\n

V\u1ec1 m\u1eb7t k\u1ef9 thu\u1eadt, NGS (next-generation sequencing, gia\u0309i tri\u0300nh t\u01b0\u0323 th\u00ea\u0301 h\u00ea\u0323 m\u01a1\u0301i) c\u0169ng c\u00f3 th\u1ec3 \u0111\u01b0\u1ee3c s\u1eed d\u1ee5ng nh\u01b0 m\u1ed9t x\u00e9t nghi\u1ec7m b\u1eadc 2 ho\u1eb7c th\u1eadm ch\u00ed b\u1eadc 1, bao g\u1ed3m x\u00e9t nghi\u1ec7m th\u1ea7n kinh c\u01a1 ho\u1eb7c th\u1eadm ch\u00ed x\u00e9t nghi\u1ec7m to\u00e0n b\u1ed9 exome ho\u1eb7c b\u1ed9 gen. \u0110i\u1ec1u n\u00e0y s\u1ebd \u0111\u1eb7c bi\u1ec7t c\u00f3 l\u1ee3i cho nh\u1eefng b\u1eadc cha m\u1eb9 kh\u00f4ng th\u1ec3 quay l\u1ea1i \u0111\u1ec3 la\u0300m s\u00e0ng l\u1ecdc CK-MM l\u1ea7n th\u1ee9 hai, nh\u01b0ng c\u0169ng s\u1ebd l\u00e0m t\u0103ng t\u1ed5ng chi ph\u00ed s\u00e0ng l\u1ecdc. Ba\u0301c s\u0129 Chien c\u0169ng tin r\u1eb1ng v\u1eabn c\u1ea7n ph\u1ea3i th\u1ef1c hi\u1ec7n x\u00e9t nghi\u1ec7m ho\u0301a sinh song song v\u01a1\u0301i ca\u0301c xe\u0301t nghi\u00ea\u0323m kha\u0301c \u0111\u00ea\u0309 \u0111a\u0301nh gia\u0301 n\u00f4\u0300ng \u0111\u00f4\u0323 CK-MM, v\u00ec “ch\u00fang ta v\u1eabn ch\u01b0a hi\u1ec3u h\u1ebft t\u1ea5t c\u1ea3 c\u00e1c bi\u1ebfn th\u1ec3 di truy\u1ec1n”.<\/p>\n

Gi\u1ea3i th\u00edch k\u1ebft qu\u1ea3 cho ph\u1ee5 huynh<\/h2>\n

M\u1ed9t kh\u00eda c\u1ea1nh kh\u00f3 kh\u0103n kh\u00e1c c\u1ee7a vi\u1ec7c t\u1ea7m so\u00e1t DMD (Duchenne muscular dystrophy, lo\u1ea1n d\u01b0\u1ee1ng c\u01a1 Duchenne) cho tr\u1ebb s\u01a1 sinh l\u00e0 vi\u1ec7c gi\u1ea3i th\u00edch k\u1ebft qu\u1ea3 cho cha m\u1eb9. \u0110\u1ed1i v\u1edbi c\u00e1c b\u1eadc cha m\u1eb9 c\u00f3 con s\u01a1 sinh c\u00f3 ch\u1ec9 s\u1ed1 CK-MM n\u1eb1m trong top 1%, \u0111i\u1ec1u quan tr\u1ecdng l\u00e0 ph\u1ea3i \u0111\u1ea3m b\u1ea3o h\u1ecd hi\u1ec3u \u0111\u01b0\u1ee3c t\u1ea7m quan tr\u1ecdng v\u00e0 m\u1ee5c \u0111\u00edch c\u1ee7a vi\u1ec7c t\u1ea7m so\u00e1t l\u1ea1i m\u00e0 kh\u00f4ng g\u00e2y ra s\u1ef1 lo l\u1eafng qu\u00e1 m\u1ee9c.<\/p>\n

\u201c\u0110\u01a1n vi\u0323 ch\u0103m so\u0301c tre\u0309 l\u01b0\u0301a tu\u00f4\u0309i m\u00e2\u0300m non c\u1ee7a ch\u00fang t\u00f4i th\u01b0\u1eddng c\u00f3 m\u1ed1i li\u00ean h\u1ec7 ch\u1eb7t ch\u1ebd nh\u1ea5t v\u1edbi cha m\u1eb9, v\u00ec v\u1eady h\u1ecd th\u01b0\u1eddng l\u00e0 ng\u01b0\u1eddi phu\u0323 tra\u0301ch ph\u1ea7n l\u1edbn vi\u1ec7c giao ti\u1ebfp,\u201d Ba\u0301c s\u0129 Chien n\u00f3i. \u201cCh\u00fang t\u00f4i khuy\u1ebfn kh\u00edch t\u1ea5t c\u1ea3 c\u00e1c gia \u0111\u00ecnh quay l\u1ea1i \u0111\u1ec3 s\u00e0ng l\u1ecdc l\u1ea1i, nh\u01b0ng \u0111\u1ed1i v\u1edbi nh\u1eefng gia \u0111\u00ecnh c\u00f3 gi\u00e1 tr\u1ecb CK-MM \u0111\u1eb7c bi\u1ec7t cao v\u00e0 kh\u00f4ng th\u1ec3 gi\u1ea3i th\u00edch b\u1eb1ng c\u00e1c y\u1ebfu t\u1ed1 l\u00e2m s\u00e0ng kh\u00e1c, ch\u00fang t\u00f4i c\u00f3 th\u1ec3 v\u00f4 cu\u0300ng khuy\u1ebfn kh\u00edch h\u1ecd quay tr\u01a1\u0309 la\u0323i.\u201d<\/p>\n

\u0110\u1ed1i v\u1edbi nh\u1eefng b\u1eadc cha m\u1eb9 c\u00f3 con \u0111\u01b0\u1ee3c ch\u1ea9n \u0111o\u00e1n xa\u0301c \u0111i\u0323nh m\u1eafc b\u1ec7nh DMD (Duchenne muscular dystrophy, lo\u1ea1n d\u01b0\u1ee1ng c\u01a1 Duchenne) b\u1eb1ng ph\u01b0\u01a1ng ph\u00e1p di truy\u1ec1n, c\u00e1c b\u00e1c s\u0129 l\u00e2m s\u00e0ng v\u00e0 chuy\u00ean gia t\u01b0 v\u1ea5n di truy\u1ec1n ph\u1ea3i \u0111\u1ed1i m\u1eb7t v\u1edbi th\u00e1ch th\u1ee9c l\u1edbn h\u01a1n khi \u0111\u01b0a ra m\u1ed9t ch\u1ea9n \u0111o\u00e1n t\u00e0n kh\u1ed1c, co\u0301 th\u00ea\u0309 thay \u0111\u1ed5i ca\u0309 cu\u1ed9c \u0111\u1eddi cu\u0309a ho\u0323, th\u01b0\u1eddng g\u00e2y ra c\u1ea3m gi\u00e1c \u0111au bu\u1ed3n, \u0111au \u0111\u1edbn, s\u1ee3 h\u00e3i v\u00e0 nh\u1eefng c\u1ea3m x\u00fac ti\u00eau c\u1ef1c kh\u00e1c. Tuy nhi\u00ean, Ba\u0301c s\u0129 Chien hy v\u1ecdng r\u1eb1ng c\u00e1c ph\u01b0\u01a1ng ph\u00e1p \u0111i\u1ec1u tr\u1ecb m\u1edbi s\u1ebd mang l\u1ea1i c\u00e1i nh\u00ecn l\u1ea1c quan h\u01a1n.<\/p>\n

“Vi\u1ec7c s\u00e0ng l\u1ecdc DMD (Duchenne muscular dystrophy, lo\u1ea1n d\u01b0\u1ee1ng c\u01a1 Duchenne) cho tr\u1ebb s\u01a1 sinh s\u1ebd ti\u1ebfp t\u1ee5c \u0111\u01b0\u1ee3c tri\u1ec3n khai t\u1ea1i \u0110\u00e0i Loan”, b\u00e0 n\u00f3i. “Gi\u00e1 tr\u1ecb c\u1ee7a ph\u01b0\u01a1ng ph\u00e1p n\u00e0y v\u00e0 c\u00e1c b\u01b0\u1edbc xe\u0301t nghi\u00ea\u0323m ti\u1ebfp theo d\u00e0nh cho nh\u1eefng ng\u01b0\u1eddi c\u00f3 k\u1ebft qu\u1ea3 x\u00e9t nghi\u1ec7m d\u01b0\u01a1ng t\u00ednh s\u1ebd r\u00f5 r\u00e0ng h\u01a1n nhi\u1ec1u khi ch\u00fang ta c\u00f3 c\u00e1c l\u1ef1a ch\u1ecdn \u0111i\u1ec1u tr\u1ecb t\u1ed1t h\u01a1n t\u1ea1i \u0111\u00e2y.”<\/p>\n

B\u00e0i vi\u1ebft n\u00e0y \u0111\u01b0\u1ee3c vi\u1ebft b\u1edfi Will Greene, Tr\u01b0\u1edfng nh\u00f3m Ch\u0103m s\u00f3c S\u1ee9c kh\u1ecfe t\u1ea1i Roche Diagnostics Ch\u00e2u \u00c1 – Th\u00e1i B\u00ecnh D\u01b0\u01a1ng v\u00e0 \u0111\u1ed3ng l\u00e3nh \u0111\u1ea1o D\u1ef1 \u00e1n Strongbow, m\u1ed9t s\u00e1ng ki\u1ebfn nh\u1eb1m th\u00fac \u0111\u1ea9y c\u00e1c ph\u01b0\u01a1ng ph\u00e1p t\u1ed1i \u01b0u trong s\u00e0ng l\u1ecdc s\u01a1 sinh v\u00e0 ch\u1ea9n \u0111o\u00e1n b\u1ec7nh hi\u1ebfm g\u1eb7p th\u00f4ng qua n\u1ed9i dung gi\u00e1o d\u1ee5c v\u00e0 x\u00e2y d\u1ef1ng c\u1ed9ng \u0111\u1ed3ng. Truy c\u1eadp trang S\u00e0ng l\u1ecdc S\u01a1 sinh c\u1ee7a ch\u00fang t\u00f4i<\/a> \u0111\u1ec3 xem th\u00eam c\u00e1c b\u00e0i vi\u1ebft v\u00e0 video v\u1ec1 ch\u1ee7 \u0111\u1ec1 n\u00e0y.<\/em><\/p>\n

T\u00e0i li\u1ec7u tham kh\u1ea3o:<\/em><\/p>\n

[1]<\/a> Ca\u0301i gia\u0301 c\u1ee7a vi\u1ec7c ch\u1ea9n \u0111o\u00e1n mu\u00f4\u0323n b\u1ec7nh hi\u1ebfm g\u0103\u0323p: Nghi\u00ean c\u1ee9u Kinh t\u1ebf Y cu\u0309a t\u00f4\u0309 ch\u01b0\u0301c EveryLife (2023). Xem ta\u0323i: https:\/\/everylifefoundation.org\/wp-content\/uploads\/2023\/09\/EveryLife-Cost-of-Delayed-Diagnosis-in-Rare-Disease_Final-Full-Study-Report_0914223.pdf<\/p>\n

[2]<\/a> Chien, Y.-H. et al. (2022) ‘S\u00e0ng l\u1ecdc tr\u1ebb s\u01a1 sinh m\u1eafc ch\u1ee9ng lo\u1ea1n d\u01b0\u1ee1ng c\u01a1 Duchenne: 50.000 tr\u1ebb s\u01a1 sinh \u0111\u1ea7u ti\u00ean \u0111\u01b0\u1ee3c s\u00e0ng l\u1ecdc t\u1ea1i \u0110\u00e0i Loan’, Khoa h\u1ecdc th\u1ea7n kinh, 43(7), tr. 4563\u20134566. doi:10.1007\/s10072-022-06128-2.<\/p>\n

[3]<\/a>https:\/\/www.labinsights.com\/get-inspired\/content\/newborn-screening-taiwan-qa-dr-yin-hsiu-nancy-chien<\/p>\n","protected":false},"excerpt":{"rendered":"

\u0110\u00e0i Loan l\u00e0 m\u1ed9t trong s\u1ed1 \u00edt qu\u1ed1c gia v\u00e0 v\u00f9ng l\u00e3nh th\u1ed5 tr\u00ean th\u1ebf gi\u1edbi th\u01b0\u1eddng xuy\u00ean s\u00e0ng l\u1ecdc h\u1ea7u h\u1ebft tr\u1ebb s\u01a1 sinh m\u1eafc b\u1ec7nh lo\u1ea1n d\u01b0\u1ee1ng c\u01a1 Duchenne (DMD), m\u1ed9t b\u1ec7nh di truy\u1ec1n nghi\u00eam tr\u1ecdng ch\u1ee7 y\u1ebfu \u1ea3nh h\u01b0\u1edfng tr\u00ean tre\u0309 nam. Tuy nhi\u00ean, v\u1edbi nh\u1eefng ti\u1ebfn b\u1ed9 khoa h\u1ecdc li\u00ean t\u1ee5c […]<\/p>\n","protected":false},"author":1,"featured_media":85872,"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 center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"tablet":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"mobile":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""}},"ast-content-background-meta":{"desktop":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"tablet":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"mobile":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""}},"footnotes":""},"tags":[14774],"pillarandcategory":[293,282,294],"reporter":[14951],"class_list":["post-147103","acf_article","type-acf_article","status-publish","has-post-thumbnail","hentry","tag-dai-loan","pillarandcategory-newborn-screening","pillarandcategory-disease-area","pillarandcategory-rare-diseases","reporter-chien-yin-hsiu"],"acf":[],"_links":{"self":[{"href":"https:\/\/labinsights.com\/vi\/wp-json\/wp\/v2\/acf_article\/147103","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/labinsights.com\/vi\/wp-json\/wp\/v2\/acf_article"}],"about":[{"href":"https:\/\/labinsights.com\/vi\/wp-json\/wp\/v2\/types\/acf_article"}],"author":[{"embeddable":true,"href":"https:\/\/labinsights.com\/vi\/wp-json\/wp\/v2\/users\/1"}],"version-history":[{"count":1,"href":"https:\/\/labinsights.com\/vi\/wp-json\/wp\/v2\/acf_article\/147103\/revisions"}],"predecessor-version":[{"id":147756,"href":"https:\/\/labinsights.com\/vi\/wp-json\/wp\/v2\/acf_article\/147103\/revisions\/147756"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/labinsights.com\/vi\/wp-json\/wp\/v2\/media\/85872"}],"wp:attachment":[{"href":"https:\/\/labinsights.com\/vi\/wp-json\/wp\/v2\/media?parent=147103"}],"wp:term":[{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/labinsights.com\/vi\/wp-json\/wp\/v2\/tags?post=147103"},{"taxonomy":"pillarandcategory","embeddable":true,"href":"https:\/\/labinsights.com\/vi\/wp-json\/wp\/v2\/pillarandcategory?post=147103"},{"taxonomy":"reporter","embeddable":true,"href":"https:\/\/labinsights.com\/vi\/wp-json\/wp\/v2\/reporter?post=147103"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}