C\u00c1C G\u00d3I X\u00c9T NGHI\u1ec6M S\u00c0NG L\u1eccC S\u01a0 SINH T\u1ea0I TRUNG T\u00c2M X\u00c9T NGHI\u1ec6M – GI\u1ea2I PH\u1eaaU B\u1ec6NH – T\u1ebe B\u00c0O H\u1eccC H\u00d2A \u0110\u1ee8C<\/a><\/li><\/ul><\/nav><\/div>\n

<\/span>X\u00e9t nghi\u1ec7m l\u1ea5y m\u00e1u g\u00f3t ch\u00e2n l\u00e0 g\u00ec?<\/span><\/h2>\n
X\u00e9t nghi\u1ec7m l\u1ea5y m\u00e1u g\u00f3t ch\u00e2n tr\u1ebb s\u01a1 sinh \u0111\u01b0\u1ee3c th\u1ef1c hi\u1ec7n t\u1eeb 2 \u2013 7 ng\u00e0y tu\u1ed5i, nh\u01b0ng trong tr\u01b0\u1eddng h\u1ee3p sinh non, tr\u1ebb c\u00f3 th\u1ec3 \u0111\u01b0\u1ee3c l\u1ea5y m\u00e1u g\u00f3t ch\u00e2n tr\u01b0\u1edbc 20 ng\u00e0y tu\u1ed5i. Trong tr\u01b0\u1eddng h\u1ee3p \u0111\u1eb7c bi\u1ec7t, tr\u1ebb c\u1ea7n truy\u1ec1n m\u00e1u, n\u00ean l\u1ea5y m\u1eabu m\u00e1u khi tr\u1ebb \u0111\u01b0\u1ee3c 30 ng\u00e0y tu\u1ed5i.<\/p>\n
$\"X\u00e9t$ <\/p>\n
Ph\u01b0\u01a1ng ph\u00e1p n\u00e0y c\u00f3 th\u1ec3 th\u1ef1c hi\u1ec7n b\u1eb1ng c\u00e1ch ch\u00edch g\u00f3t ch\u00e2n c\u1ee7a b\u00e9 v\u00e0 nh\u1ecf v\u00e0i gi\u1ecdt m\u00e1u l\u00ean gi\u1ea5y l\u1ecdc, sau \u0111\u00f3 \u0111\u1ec3 kh\u00f4 v\u00e0 chuy\u1ec3n \u0111\u1ebfn Ph\u00f2ng x\u00e9t nghi\u1ec7m Y khoa H\u00d2A \u0110\u1ee8C \u0111\u1ec3 x\u00e9t nghi\u1ec7m. V\u00ec g\u00f3t ch\u00e2n c\u1ee7a tr\u1ebb c\u00f3 l\u00e0n da \u00edt nh\u1ea1y c\u1ea3m h\u01a1n nh\u1eefng ng\u01b0\u1eddi kh\u00e1c v\u00e0 l\u01b0u l\u01b0\u1ee3ng m\u00e1u gi\u00fap vi\u1ec7c l\u1ea5y m\u00e1u d\u1ec5 d\u00e0ng h\u01a1n.<\/p>\n
<\/span>Quy tr\u00ecnh th\u1ef1c hi\u1ec7n x\u00e9t nghi\u1ec7m l\u1ea5y m\u00e1u g\u00f3t ch\u00e2n t\u1ea1i Quy Nh\u01a1n<\/span><\/h2>\n
X\u00e9t nghi\u1ec7m l\u1ea5y m\u00e1u g\u00f3t ch\u00e2n kh\u00f4ng g\u00e2y nguy hi\u1ec3m cho tr\u1ebb, ng\u01b0\u1ee3c l\u1ea1i, x\u00e9t nghi\u1ec7m c\u00f3 th\u1ec3 gi\u00fap ch\u1ea9n \u0111o\u00e1n b\u1ec7nh s\u1edbm h\u01a1n, ch\u0103m s\u00f3c b\u00e9 \u0111\u00fang c\u00e1ch \u0111\u1ec3 b\u00e9 ph\u00e1t tri\u1ec3n to\u00e0n di\u1ec7n, t\u0103ng t\u1ef7 l\u1ec7 ph\u1ee5c h\u1ed3i l\u00ean \u0111\u1ebfn 95% khi b\u00e9 m\u1eafc c\u00e1c b\u1ec7nh l\u00fd li\u00ean quan.<\/p>\n
Khi n\u00e0o n\u00ean l\u00e0m x\u00e9t nghi\u1ec7m l\u1ea5y m\u00e1u g\u00f3t ch\u00e2n? X\u00e9t nghi\u1ec7m m\u00e1u th\u01b0\u1eddng \u0111\u01b0\u1ee3c th\u1ef1c hi\u1ec7n khi tr\u1ebb \u0111\u01b0\u1ee3c 24 \u0111\u1ebfn 72 gi\u1edd tu\u1ed5i, \u00edt nh\u1ea5t 8 l\u1ea7n b\u00fa sau khi sinh. Trong 5 ph\u00fat tr\u01b0\u1edbc khi x\u00e9t nghi\u1ec7m, b\u00e1c s\u0129 ho\u1eb7c \u0111i\u1ec1u d\u01b0\u1ee1ng s\u1ebd h\u01b0\u1edbng d\u1eabn cha m\u1eb9 ho\u1eb7c tr\u1ef1c ti\u1ebfp gi\u1eef ch\u00e2n tr\u1ebb b\u1eb1ng kh\u0103n \u01b0\u1edbt \u1edf nhi\u1ec7t \u0111\u1ed9 42 \u0111\u1ed9.<\/p>\n
Khi th\u1ef1c hi\u1ec7n l\u1ea5y m\u00e1u g\u00f3t ch\u00e2n, b\u00e1c s\u0129 s\u1ebd \u0111\u1eb7t b\u00e9 n\u1eb1m sao cho b\u00e0n ch\u00e2n c\u1ee7a b\u00e9 th\u1ea5p h\u01a1n th\u00e2n m\u00ecnh, d\u00f9ng kim l\u1ea5y m\u00e1u v\u00e0 th\u1ea5m v\u00e0i gi\u1ecdt m\u00e1u v\u00e0o gi\u1ea5y l\u1ecdc \u0111\u1ec3 s\u00e0ng l\u1ecdc.<\/p>\n
K\u1ebft qu\u1ea3 th\u01b0\u1eddng c\u00f3 sau 24 \u2013 72 gi\u1edd sau khi x\u00e9t nghi\u1ec7m. N\u1ebfu ph\u00e1t hi\u1ec7n b\u1ea5t th\u01b0\u1eddng, b\u00e1c s\u0129 n\u01a1i b\u00e9 \u0111\u01b0\u1ee3c x\u00e9t nghi\u1ec7m s\u1ebd th\u00f4ng b\u00e1o k\u1ebft qu\u1ea3 cho b\u1ea1n \u0111\u1ec3 gi\u00fap ph\u00f2ng ng\u1eeba v\u00e0 \u0111i\u1ec1u tr\u1ecb k\u1ecbp th\u1eddi.<\/p>\n
<\/span>T\u1ea7m quan tr\u1ecdng c\u1ee7a x\u00e9t nghi\u1ec7m l\u1ea5y m\u00e1u g\u00f3t ch\u00e2n<\/span><\/h2>\n
Ng\u00e0y nay, x\u00e3 h\u1ed9i ng\u00e0y c\u00e0ng ph\u00e1t tri\u1ec3n, m\u1ecdi ng\u01b0\u1eddi quan t\u00e2m nhi\u1ec1u h\u01a1n \u0111\u1ebfn vi\u1ec7c ch\u0103m s\u00f3c s\u1ee9c kh\u1ecfe, \u0111\u1eb7c bi\u1ec7t l\u00e0 \u0111\u1ed1i v\u1edbi tr\u1ebb s\u01a1 sinh v\u00ec s\u1ee9c \u0111\u1ec1 kh\u00e1ng c\u1ee7a tr\u1ebb c\u00f2n y\u1ebfu, kh\u00f4ng \u0111\u1ee7 s\u1ee9c ch\u1ed1ng ch\u1ecdi v\u1edbi c\u00e1c b\u1ec7nh t\u1eadt nghi\u00eam tr\u1ecdng. V\u00ec v\u1eady, c\u00e1c b\u1ec7nh \u0111\u01b0\u1ee3c ph\u00e1t hi\u1ec7n s\u1edbm khi b\u1ec7nh ch\u01b0a kh\u1edfi ph\u00e1t s\u1ebd d\u1ec5 \u0111i\u1ec1u tr\u1ecb h\u01a1n v\u00e0 gi\u1ea3m thi\u1ec3u t\u1ed1i \u0111a c\u00e1c nguy c\u01a1 cho tr\u1ebb nh\u01b0 h\u1ec7 th\u1ea7n kinh, b\u1ea1i n\u00e3o, ch\u1eadm ph\u00e1t tri\u1ec3n tr\u00ed tu\u1ec7.<\/p>\n
Cha m\u1eb9 c\u00f3 th\u1ec3 ch\u1ee7 \u0111\u1ed9ng bi\u1ebft \u0111\u01b0\u1ee3c c\u00e1c b\u1ec7nh l\u00fd do y\u1ebfu t\u1ed1 di truy\u1ec1n v\u00e0 r\u1ed1i lo\u1ea1n chuy\u1ec3n h\u00f3a \u1edf tr\u1ebb th\u00f4ng qua x\u00e9t nghi\u1ec7m l\u1ea5y m\u00e1u g\u00f3t ch\u00e2n s\u01a1 sinh. T\u1eeb k\u1ebft qu\u1ea3 x\u00e9t nghi\u1ec7m, b\u00e1c s\u0129 s\u1ebd bi\u1ebft \u0111\u01b0\u1ee3c tr\u1ebb c\u00f3 t\u00ecnh tr\u1ea1ng b\u1ea5t th\u01b0\u1eddng so v\u1edbi nh\u1eefng tr\u1ebb kh\u00e1c hay kh\u00f4ng.<\/p>\n
Vi\u1ec7c \u0111i\u1ec1u tr\u1ecb s\u1edbm kh\u00f4ng ch\u1ec9 t\u1ed1t cho c\u01a1 th\u1ec3 tr\u1ebb tr\u00e1nh \u0111\u01b0\u1ee3c t\u1ed5n th\u01b0\u01a1ng m\u00e0 c\u00f2n gi\u00fap cha m\u1eb9 ti\u1ebft ki\u1ec7m chi ph\u00ed, gi\u1ea3m b\u1edbt gi\u1edd l\u00e0m vi\u1ec7c cho gia \u0111\u00ecnh \u0111\u1ec3 ch\u0103m s\u00f3c tr\u1ebb.
\n\u0110\u1ed1i v\u1edbi tr\u1ebb kh\u00f4ng \u0111\u01b0\u1ee3c th\u1ef1c hi\u1ec7n x\u00e9t nghi\u1ec7m l\u1ea5y m\u00e1u g\u00f3t ch\u00e2n, khi b\u1ec7nh kh\u1edfi ph\u00e1t, c\u00e1c tri\u1ec7u ch\u1ee9ng c\u00f3 th\u1ec3 nhanh ch\u00f3ng chuy\u1ec3n bi\u1ebfn n\u1eb7ng, kh\u00f3 \u0111i\u1ec1u tr\u1ecb, \u1ea3nh h\u01b0\u1edfng nghi\u00eam tr\u1ecdng \u0111\u1ebfn s\u1ef1 ph\u00e1t tri\u1ec3n c\u1ee7a tr\u1ebb, kh\u00f4ng c\u00f3 kh\u1ea3 n\u0103ng ph\u1ee5c h\u1ed3i ho\u00e0n to\u00e0n.<\/p>\n
<\/span>X\u00e9t nghi\u1ec7m l\u1ea5y m\u00e1u g\u00f3t ch\u00e2n \u1edf Quy Nh\u01a1n ph\u00e1t hi\u1ec7n \u0111\u01b0\u1ee3c nh\u1eefng b\u1ec7nh g\u00ec?<\/span><\/h2>\n
\u201cX\u00e9t nghi\u1ec7m l\u1ea5y m\u00e1u g\u00f3t ch\u00e2n ph\u00e1t hi\u1ec7n \u0111\u01b0\u1ee3c nh\u1eefng b\u1ec7nh g\u00ec?\u201d l\u00e0 m\u1ed1i quan t\u00e2m h\u00e0ng \u0111\u1ea7u c\u1ee7a c\u00e1c b\u1eadc ph\u1ee5 huynh. \u0110\u00e2y l\u00e0 ph\u01b0\u01a1ng ph\u00e1p \u0111\u01a1n gi\u1ea3n, an to\u00e0n, cho k\u1ebft qu\u1ea3 x\u00e9t nghi\u1ec7m nhanh, gi\u00fap ph\u00e1t hi\u1ec7n t\u00ecnh tr\u1ea1ng c\u1ee7a c\u00e1c b\u1ec7nh sau:<\/p>\n
<\/span>1. Thi\u1ebfu men G6PD<\/span><\/h3>\n
Thi\u1ebfu men G6PD l\u00e0 b\u1ec7nh di truy\u1ec1n li\u00ean quan \u0111\u1ebfn gen l\u1eb7n c\u1ee7a nhi\u1ec5m s\u1eafc th\u1ec3 gi\u1edbi t\u00ednh m\u00e0 tr\u1ebb nh\u1eadn \u0111\u01b0\u1ee3c t\u1eeb cha m\u1eb9. Khi tr\u1ebb b\u1ecb thi\u1ebfu men G6PD, h\u1ed3ng c\u1ea7u s\u1ebd tr\u1edf n\u00ean kh\u00f4ng \u1ed5n \u0111\u1ecbnh v\u00e0 d\u1ec5 v\u1ee1 khi g\u1eb7p oxy h\u00f3a d\u1eabn \u0111\u1ebfn tan m\u00e1u, thi\u1ebfu oxy cung c\u1ea5p cho c\u00e1c ho\u1ea1t \u0111\u1ed9ng c\u1ee7a c\u01a1 th\u1ec3.<\/p>\n
$\"X\u00e9t$ <\/p>\n
Thi\u1ebfu men G6PD ch\u1ec9 kh\u1edfi ph\u00e1t khi ti\u1ebfp x\u00fac v\u1edbi t\u00e1c nh\u00e2n g\u00e2y b\u1ec7nh n\u00ean r\u1ea5t kh\u00f3 ph\u00e1t hi\u1ec7n. Khi thi\u1ebfu men G6PD s\u1ebd g\u00e2y ra nh\u1eefng h\u1eadu qu\u1ea3 nghi\u00eam tr\u1ecdng cho tr\u1ebb nh\u01b0 v\u00e0ng da. N\u1ebfu v\u00e0ng da k\u00e9o d\u00e0i s\u1ebd \u1ea3nh h\u01b0\u1edfng \u0111\u1ebfn h\u1ec7 th\u1ea7n kinh, g\u00e2y co gi\u1eadt, b\u1ea1i n\u00e3o, th\u1eadm ch\u00ed t\u1eed vong. N\u1ebfu kh\u00f4ng \u0111\u01b0\u1ee3c \u0111i\u1ec1u tr\u1ecb k\u1ecbp th\u1eddi tr\u1ebb c\u00f3 th\u1ec3 b\u1ecb ch\u1eadm ph\u00e1t tri\u1ec3n v\u1ec1 tr\u00ed tu\u1ec7 v\u00e0 th\u1ec3 ch\u1ea5t.<\/p>\n
<\/span>2. T\u0103ng s\u1ea3n th\u01b0\u1ee3ng th\u1eadn b\u1ea9m sinh<\/span><\/h3>\n
T\u0103ng s\u1ea3n th\u01b0\u1ee3ng th\u1eadn b\u1ea9m sinh (CAH) l\u00e0 m\u1ed9t r\u1ed1i lo\u1ea1n di truy\u1ec1n v\u00e0 \u0111\u01b0\u1ee3c coi l\u00e0 m\u1ed9t b\u1ec7nh c\u00f3 t\u1ef7 l\u1ec7 m\u1eafc cao h\u01a1n c\u00e1c b\u1ec7nh kh\u00e1c v\u1edbi t\u1ef7 l\u1ec7 l\u00e0 1\/140.000. B\u1ec7nh x\u1ea3y ra do r\u1ed1i lo\u1ea1n t\u1ed5ng h\u1ee3p hormone tr\u00ean b\u1ec1 m\u1eb7t v\u1ecf th\u01b0\u1ee3ng th\u1eadn g\u00e2y thi\u1ebfu h\u1ee5t Cortisol v\u00e0 Aldosterone, nh\u01b0ng Testosterone l\u1ea1i \u0111\u01b0\u1ee3c s\u1ea3n xu\u1ea5t qu\u00e1 m\u1ee9c, d\u1eabn \u0111\u1ebfn nh\u1eefng thay \u0111\u1ed5i \u1edf b\u1ed9 ph\u1eadn sinh d\u1ee5c \u1edf tr\u1ebb em g\u00e1i, s\u1ef1 m\u01a1 h\u1ed3 v\u1ec1 gi\u1edbi t\u00ednh d\u1eabn \u0111\u1ebfn tr\u1ebb d\u1eady th\u00ec s\u1edbm. N\u1ebfu b\u1ec7nh kh\u00f4ng \u0111\u01b0\u1ee3c ph\u00e1t hi\u1ec7n s\u1edbm \u1edf tr\u1ebb em, ch\u00fang c\u00f3 th\u1ec3 t\u1eed vong do thi\u1ebfu mu\u1ed1i.<\/p>\n
$\"X\u00e9t$ <\/p>\n
Ph\u00e1t hi\u1ec7n s\u1edbm b\u1ec7nh t\u0103ng s\u1ea3n th\u01b0\u1ee3ng th\u1eadn b\u1ea9m sinh l\u00e0 v\u00f4 c\u00f9ng quan tr\u1ecdng, n\u1ebfu can thi\u1ec7p v\u00e0 \u0111i\u1ec1u tr\u1ecb k\u1ecbp th\u1eddi, tr\u1ebb s\u1ebd ph\u00e1t tri\u1ec3n b\u00ecnh th\u01b0\u1eddng. Tuy nhi\u00ean, b\u1ec7nh n\u00e0y kh\u00f4ng th\u1ec3 ch\u1eefa kh\u1ecfi ho\u00e0n to\u00e0n m\u00e0 c\u1ea7n ph\u1ea3i d\u00f9ng thu\u1ed1c \u0111\u1ec3 duy tr\u00ec s\u1ef1 s\u1ed1ng.<\/p>\n
<\/span>3. Suy gi\u00e1p b\u1ea9m sinh<\/span><\/h2>\n
Suy gi\u00e1p b\u1ea9m sinh c\u00f2n \u0111\u01b0\u1ee3c g\u1ecdi l\u00e0 thi\u1ec3u n\u0103ng tuy\u1ebfn gi\u00e1p. B\u1ec7nh l\u00e0 t\u00ecnh tr\u1ea1ng thi\u1ebfu h\u1ee5t hormone tuy\u1ebfn gi\u00e1p \u1edf tr\u1ebb em, khi\u1ebfn tuy\u1ebfn gi\u00e1p ho\u1ea1t \u0111\u1ed9ng k\u00e9m v\u00e0 r\u1ed1i lo\u1ea1n chuy\u1ec3n h\u00f3a, \u1ea3nh h\u01b0\u1edfng \u0111\u1ebfn n\u00e3o b\u1ed9 v\u00e0 ch\u1eadm ph\u00e1t tri\u1ec3n \u1edf tr\u1ebb em, \u1ea3nh h\u01b0\u1edfng \u0111\u1ebfn tr\u1ebb c\u00f3 c\u00e2n n\u1eb7ng kh\u1ecfe m\u1ea1nh. Kh\u00f4ng ch\u1ec9 \u1ea3nh h\u01b0\u1edfng \u0111\u1ebfn th\u1ec3 ch\u1ea5t m\u00e0 c\u00f2n \u1ea3nh h\u01b0\u1edfng \u0111\u1ebfn tinh th\u1ea7n \u1edf tr\u1ebb.<\/p>\n
C\u1ee9 3.000 \u2013 4.000 tr\u1ebb em \u0111\u01b0\u1ee3c sinh ra m\u1ed7i n\u0103m th\u00ec c\u00f3 1 tr\u1ebb b\u1ecb suy gi\u00e1p b\u1ea9m sinh. Tuy nhi\u00ean, tri\u1ec7u ch\u1ee9ng kh\u00e1 m\u01a1 h\u1ed3, kh\u00f3 ph\u00e1t hi\u1ec7n b\u1ec7nh cho \u0111\u1ebfn khi tr\u1ebb c\u00f3 c\u00e1c d\u1ea5u hi\u1ec7u nh\u01b0 ch\u1eadm n\u00f3i, tr\u1ebb nh\u1eb9 c\u00e2n, ch\u1eadm ph\u00e1t tri\u1ec3n chi\u1ec1u cao, cha m\u1eb9 m\u1edbi \u0111\u01b0a tr\u1ebb \u0111\u1ebfn b\u1ec7nh vi\u1ec7n. L\u00fac n\u00e0y, c\u01a1 th\u1ec3 tr\u1ebb \u0111\u00e3 b\u1ecb t\u1ed5n th\u01b0\u01a1ng v\u00e0 \u1ea3nh h\u01b0\u1edfng \u0111\u1ebfn n\u00e3o b\u1ed9. Do \u0111\u00f3, vi\u1ec7c \u0111i\u1ec1u tr\u1ecb v\u00e0 ph\u1ee5c h\u1ed3i th\u01b0\u1eddng r\u1ea5t kh\u00f3 kh\u0103n.<\/p>\n
N\u1ebfu tr\u1ebb \u0111\u01b0\u1ee3c s\u00e0ng l\u1ecdc s\u01a1 sinh sau khi sinh, tr\u1ebb s\u1ebd \u0111\u01b0\u1ee3c \u0111i\u1ec1u tr\u1ecb k\u1ecbp th\u1eddi trong v\u00f2ng 2 tu\u1ea7n \u0111\u1ea7u sau khi ph\u00e1t hi\u1ec7n b\u1ec7nh, gi\u00fap ng\u0103n ng\u1eeba \u1ea3nh h\u01b0\u1edfng ti\u00eau c\u1ef1c \u0111\u1ebfn s\u1ef1 ph\u00e1t tri\u1ec3n c\u1ee7a tr\u1ebb.<\/p>\n
$\"X\u00e9t$ <\/p>\n
<\/span>4. B\u1ec7nh Phenylceton ni\u1ec7u<\/span><\/h2>\n
Kho\u1ea3ng 1\/10.000 – 20.000 tr\u1ebb s\u01a1 sinh<\/strong> m\u1eafc b\u1ec7nh Phenylketon ni\u1ec7u<\/strong>, m\u1ed9t b\u1ec7nh di truy\u1ec1n hi\u1ebfm g\u1eb7p do thi\u1ebfu h\u1ee5t enzyme chuy\u1ec3n h\u00f3a phenylalanine<\/strong>. N\u1ebfu kh\u00f4ng \u0111i\u1ec1u tr\u1ecb k\u1ecbp th\u1eddi, phenylalanine t\u00edch t\u1ee5 trong m\u00e1u, g\u00e2y t\u1ed5n th\u01b0\u01a1ng n\u00e3o v\u00e0 \u1ea3nh h\u01b0\u1edfng \u0111\u1ebfn s\u1ef1 ph\u00e1t tri\u1ec3n c\u1ee7a tr\u1ebb.<\/p>\n
Khi kh\u00f4ng \u0111\u01b0\u1ee3c \u0111i\u1ec1u tr\u1ecb, b\u1ec7nh c\u00f3 th\u1ec3 g\u00e2y r\u1ed1i lo\u1ea1n t\u00e2m th\u1ea7n<\/strong>, h\u00e0nh vi b\u1ea5t th\u01b0\u1eddng v\u00e0 t\u1ed5n th\u01b0\u01a1ng n\u00e3o v\u0129nh vi\u1ec5n<\/strong>. Vi\u1ec7c ph\u00e1t hi\u1ec7n s\u1edbm v\u00e0 \u0111i\u1ec1u tr\u1ecb k\u1ecbp th\u1eddi l\u00e0 r\u1ea5t quan tr\u1ecdng \u0111\u1ec3 ng\u0103n ng\u1eeba c\u00e1c bi\u1ebfn ch\u1ee9ng n\u00e0y.<\/p>\n
Tr\u1ebb m\u1eafc b\u1ec7nh Phenylketon ni\u1ec7u<\/strong> c\u1ea7n tu\u00e2n th\u1ee7 ch\u1ebf \u0111\u1ed9 \u0103n ki\u00eang \u0111\u1eb7c bi\u1ec7t, h\u1ea1n ch\u1ebf phenylalanine<\/strong> trong th\u1ef1c ph\u1ea9m nh\u01b0 th\u1ecbt, s\u1eefa. V\u1edbi ch\u1ebf \u0111\u1ed9 \u0103n ph\u00f9 h\u1ee3p v\u00e0 theo d\u00f5i y t\u1ebf, tr\u1ebb c\u00f3 th\u1ec3 ph\u00e1t tri\u1ec3n b\u00ecnh th\u01b0\u1eddng nh\u01b0 nh\u1eefng tr\u1ebb kh\u00e1c.<\/p>\n
Khi b\u1ecb Phenylceton ni\u1ec7u, tr\u1ebb th\u01b0\u1eddng kh\u00f4ng c\u00f3 nh\u1eefng bi\u1ec3u hi\u1ec7n ngay khi m\u1edbi ch\u00e0o \u0111\u1eddi. Th\u00f4ng th\u01b0\u1eddng, m\u1ed9t s\u1ed1 bi\u1ec3u hi\u1ec7n s\u1ebd xu\u1ea5t hi\u1ec7n v\u00e0o th\u1eddi \u0111i\u1ec3m v\u00e0i th\u00e1ng tu\u1ed5i. M\u1ed9t s\u1ed1 tri\u1ec7u ch\u1ee9ng c\u1ee5 th\u1ec3 nh\u01b0 sau:<\/p>\n
\n
Tr\u1ebb th\u01b0\u1eddng xuy\u00ean b\u1ecb ng\u00e1i ng\u1ee7.<\/li>\n
Ch\u00e1n \u0103n v\u00e0 b\u00fa k\u00e9m.<\/li>\n
Co gi\u1eadt.<\/li>\n
Tr\u00ean da xu\u1ea5t hi\u1ec7n ban \u0111\u1ecf.<\/li>\n
C\u00f3 d\u1ea5u hi\u1ec7u n\u00f4n v\u00e0 bu\u1ed3n n\u00f4n.<\/li>\n
M\u00e0u t\u00f3c nh\u1ea1t h\u01a1n.<\/li>\n
M\u1ed9t s\u1ed1 d\u1ea5u hi\u1ec7u b\u1ea5t th\u01b0\u1eddng v\u1ec1 t\u00e2m th\u1ea7n nh\u01b0 hung h\u0103ng ho\u1eb7c t\u1ef1 l\u00e0m t\u1ed5n th\u01b0\u01a1ng b\u1ea3n th\u00e2n.<\/li>\n<\/ul>\n
$\"X\u00e9t$ <\/p>\n
<\/span>5. B\u1ec7nh r\u1ed1i lo\u1ea1n chuy\u1ec3n h\u00f3a \u0111\u01b0\u1eddng Galactose trong m\u00e1u (Galactose m\u00e1u b\u1ea9m sinh)<\/strong><\/span><\/h2>\n
Galactose m\u00e1u b\u1ea9m sinh<\/strong> l\u00e0 m\u1ed9t b\u1ec7nh l\u00fd di truy\u1ec1n hi\u1ebfm g\u1eb7p, v\u1edbi t\u1ef7 l\u1ec7 m\u1eafc \u01b0\u1edbc t\u00ednh kho\u1ea3ng 1\/50.000 \u0111\u1ebfn 1\/60.000<\/strong> tr\u1ebb s\u01a1 sinh. B\u1ec7nh x\u1ea3y ra khi c\u01a1 th\u1ec3 thi\u1ebfu h\u1ee5t enzyme chuy\u1ec3n h\u00f3a galactose<\/strong> \u2013 m\u1ed9t lo\u1ea1i \u0111\u01b0\u1eddng c\u00f3 trong s\u1eefa<\/strong>. N\u1ebfu kh\u00f4ng \u0111\u01b0\u1ee3c ph\u00e1t hi\u1ec7n v\u00e0 \u0111i\u1ec1u tr\u1ecb k\u1ecbp th\u1eddi, galactose s\u1ebd t\u00edch t\u1ee5 trong m\u00e1u v\u00e0 g\u00e2y ra bi\u1ebfn ch\u1ee9ng c\u1ee7a galactose m\u00e1u b\u1ea9m sinh<\/strong> nh\u01b0 t\u1ed5n th\u01b0\u01a1ng gan, th\u1eadn, n\u00e3o v\u00e0 m\u1eaft.<\/p>\n
Vi\u1ec7c s\u00e0ng l\u1ecdc v\u00e0 ph\u00e1t hi\u1ec7n s\u1edbm b\u1ec7nh l\u00e0 v\u00f4 c\u00f9ng quan tr\u1ecdng, gi\u00fap ng\u0103n ng\u1eeba nh\u1eefng bi\u1ebfn ch\u1ee9ng nghi\u00eam tr\u1ecdng<\/strong> c\u1ee7a galactose m\u00e1u b\u1ea9m sinh v\u00e0 b\u1ea3o v\u1ec7 s\u1ee9c kh\u1ecfe c\u1ee7a tr\u1ebb.<\/p>\n
$\"X\u00e9t$ <\/p>\n
<\/span>K\u1ebft lu\u1eadn<\/span><\/h2>\n
X\u00e9t nghi\u1ec7m l\u1ea5y m\u00e1u g\u00f3t ch\u00e2n<\/strong> ngay sau khi tr\u1ebb ch\u00e0o \u0111\u1eddi l\u00e0 b\u01b0\u1edbc quan tr\u1ecdng \u0111\u1ec3 ph\u00e1t hi\u1ec7n s\u1edbm c\u00e1c b\u1ec7nh l\u00fd nguy hi\u1ec3m. C\u00e1c b\u1ec7nh n\u00e0y th\u01b0\u1eddng kh\u00f3 ph\u00e1t hi\u1ec7n b\u1eb1ng m\u1eaft th\u01b0\u1eddng v\u00e0 c\u00f3 th\u1ec3 kh\u00f4ng c\u00f3 tri\u1ec7u ch\u1ee9ng r\u00f5 r\u00e0ng cho \u0111\u1ebfn khi b\u1ec7nh ti\u1ebfn tri\u1ec3n n\u1eb7ng.<\/p>\n
Vi\u1ec7c s\u00e0ng l\u1ecdc s\u01a1 sinh<\/strong> gi\u00fap cha m\u1eb9 ph\u00e1t hi\u1ec7n s\u1edbm v\u00e0 \u0111i\u1ec1u tr\u1ecb k\u1ecbp th\u1eddi, ng\u0103n ng\u1eeba c\u00e1c bi\u1ebfn ch\u1ee9ng \u1ea3nh h\u01b0\u1edfng \u0111\u1ebfn s\u1ee9c kh\u1ecfe th\u1ec3 ch\u1ea5t v\u00e0 tinh th\u1ea7n<\/strong> c\u1ee7a tr\u1ebb. \u0110\u1eebng b\u1ecf l\u1ee1 th\u1eddi gian v\u00e0ng \u0111\u1ec3 \u0111\u1ea3m b\u1ea3o con b\u1ea1n ph\u00e1t tri\u1ec3n kh\u1ecfe m\u1ea1nh.<\/p>\n
<\/span>C\u00c1C G\u00d3I X\u00c9T NGHI\u1ec6M S\u00c0NG L\u1eccC S\u01a0 SINH T\u1ea0I TRUNG T\u00c2M X\u00c9T NGHI\u1ec6M – GI\u1ea2I PH\u1eaaU B\u1ec6NH – T\u1ebe B\u00c0O H\u1eccC H\u00d2A \u0110\u1ee8C<\/strong><\/span><\/h2>\n
G\u00f3i s\u00e0ng l\u1ecdc s\u01a1 sinh 5 b\u1ec7nh:<\/p>\n
\n
B\u1ec7nh thi\u1ebfu men G6PD<\/li>\n
B\u1ec7nh t\u0103ng s\u1ea3n tuy\u1ebfn th\u01b0\u1ee3ng th\u1eadn b\u1ea9m sinh (17OHP)<\/li>\n
B\u1ec7nh suy gi\u00e1p b\u1ea9m sinh (TSH)<\/li>\n
B\u1ec7nh Galactose m\u00e1u b\u1ea9m sinh (GALT)<\/li>\n
B\u1ec7nh Phenylketon ni\u1ec7u (PKU)<\/li>\n<\/ul>\n
Chi ph\u00ed s\u00e0ng l\u1ecdc s\u01a1 sinh g\u00f3i 5 b\u1ec7nh t\u1ea1i Trung t\u00e2m x\u00e9t nghi\u1ec7m k\u1ef9 thu\u1eadt cao Ho\u00e0 \u0110\u1ee9c<\/a> dao \u0111\u1ed9ng t\u1eeb 500.000 – 600.000 VN\u0110, gi\u00fap ph\u00e1t hi\u1ec7n v\u00e0 \u0111i\u1ec1u tr\u1ecb s\u1edbm \u0111\u1ec3 tr\u1ebb c\u00f3 c\u01a1 h\u1ed9i ph\u00e1t tri\u1ec3n b\u00ecnh th\u01b0\u1eddng, gi\u1ea3m nguy c\u01a1 b\u1ecb t\u00e0n t\u1eadt v\u00e0 ph\u1ee5 thu\u1ed9c su\u1ed1t \u0111\u1eddi. S\u00e0ng l\u1ecdc s\u01a1 sinh l\u00e0 quy\u1ebft \u0111\u1ecbnh \u0111\u00fang \u0111\u1eafn v\u00e0 c\u1ea7n thi\u1ebft m\u00e0 m\u1ed7i cha m\u1eb9 n\u00ean th\u1ef1c hi\u1ec7n cho con. Hy v\u1ecdng r\u1eb1ng nh\u1eefng th\u00f4ng tin v\u1ec1 g\u00f3i s\u00e0ng l\u1ecdc s\u01a1 sinh 5 b\u1ec7nh tr\u00ean \u0111\u00e2y s\u1ebd gi\u00fap cha m\u1eb9 c\u00f3 th\u00eam ki\u1ebfn th\u1ee9c v\u00e0 \u0111\u01b0a ra quy\u1ebft \u0111\u1ecbnh k\u1ecbp th\u1eddi, \u0111\u00fang \u0111\u1eafn \u0111\u1ec3 b\u1ea3o v\u1ec7 s\u1ee9c kh\u1ecfe t\u01b0\u01a1ng lai cho con y\u00eau.<\/p>\n
\u0110\u1ec3 \u0111\u1eb7t l\u1ecbch kh\u00e1m v\u00e0 x\u00e9t nghi\u1ec7m s\u00e0ng l\u1ecdc s\u01a1 sinh t\u1ea1i Quy Nh\u01a1n, h\u00e3y \u0111\u1ebfn Trung T\u00e2m X\u00e9t nhi\u1ec7m – Gi\u1ea3i ph\u1eabu b\u1ec7nh – T\u1ebf b\u00e0o h\u1ecdc H\u00f2a \u0110\u1ee9c. C\u1ee5 th\u1ec3, Qu\u00fd kh\u00e1ch h\u00e0ng vui l\u00f2ng b\u1ea5m s\u1ed1 HOTLINE b\u00ean d\u01b0\u1edbi ho\u1eb7c \u0111\u1eb7t l\u1ecbch tr\u1ef1c ti\u1ebfp T\u1ea0I \u0110\u00c2Y<\/a>.<\/p>\n
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TRUNG T\u00c2M X\u00c9T NGHI\u1ec6M – GI\u1ea2I PH\u1eaaU B\u1ec6NH – T\u1ebe B\u00c0O H\u1eccC HO\u00c0 \u0110\u1ee8C<\/strong><\/span><\/p>
\ud83c\udfe5 \u0110\u1ecba ch\u1ec9:<\/strong> 04 – 06 – 08 \u0110inh C\u00f4ng Tr\u00e1ng, Ph\u01b0\u1eddng Quy Nh\u01a1n Nam, t\u1ec9nh Gia Lai<\/span><\/p>
\u260e\ufe0f Hotline:<\/strong>\u00a00935 096 468<\/a><\/strong><\/span><\/p>
\u24d5 Fanpage:<\/strong> Trung t\u00e2m X\u00e9t nghi\u1ec7m – Gi\u1ea3i ph\u1eabu b\u1ec7nh – T\u1ebf b\u00e0o h\u1ecdc Ho\u00e0 \u0110\u1ee9c<\/strong><\/a>
<\/span><\/p>
\ud83c\udf10 Website:<\/strong> https:\/\/ytehoaduc.com.vn\/en\/<\/a><\/strong><\/span><\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t
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\n\t\t\t\t\t \n\t\t\t\t\t\t\n\t\t\t\t\t\t\t\t\tZalo OA<\/span>\n\t\t\t\t\t<\/span>\n\t\t\t\t\t<\/a>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t
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\n\t\t\t\t\t \n\t\t\t\t\t\t\n\t\t\t\t\t\t\t\t\tHotline: 0935 096 468<\/span>\n\t\t\t\t\t<\/span>\n\t\t\t\t\t<\/a>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t<\/body><\/p>\n","protected":false},"excerpt":{"rendered":"
X\u00e9t nghi\u1ec7m l\u1ea5y m\u00e1u g\u00f3t ch\u00e2n th\u01b0\u1eddng \u0111\u01b0\u1ee3c th\u1ef1c hi\u1ec7n khi tr\u1ebb \u0111\u01b0\u1ee3c 48 \u0111\u1ebfn 72 gi\u1edd tu\u1ed5i, \u0111\u1ec3 gi\u00fap […]<\/p>\n","protected":false},"author":2,"featured_media":5913,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","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":"","ast-disable-related-posts":"","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":"var(--ast-global-color-4)","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":""},"categories":[130],"tags":[],"class_list":["post-5912","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-xet-nghiem"],"acf":[],"_links":{"self":[{"href":"https:\/\/ytehoaduc.com.vn\/en\/wp-json\/wp\/v2\/posts\/5912","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/ytehoaduc.com.vn\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/ytehoaduc.com.vn\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/ytehoaduc.com.vn\/en\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/ytehoaduc.com.vn\/en\/wp-json\/wp\/v2\/comments?post=5912"}],"version-history":[{"count":12,"href":"https:\/\/ytehoaduc.com.vn\/en\/wp-json\/wp\/v2\/posts\/5912\/revisions"}],"predecessor-version":[{"id":8737,"href":"https:\/\/ytehoaduc.com.vn\/en\/wp-json\/wp\/v2\/posts\/5912\/revisions\/8737"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/ytehoaduc.com.vn\/en\/wp-json\/wp\/v2\/media\/5913"}],"wp:attachment":[{"href":"https:\/\/ytehoaduc.com.vn\/en\/wp-json\/wp\/v2\/media?parent=5912"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/ytehoaduc.com.vn\/en\/wp-json\/wp\/v2\/categories?post=5912"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/ytehoaduc.com.vn\/en\/wp-json\/wp\/v2\/tags?post=5912"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}