{"id":103524,"date":"2021-09-10T00:00:00","date_gmt":"2021-09-10T00:00:00","guid":{"rendered":"https:\/\/docosan-blog.local\/blog\/uncategorized\/xet-nghiem-mau-got-chan\/"},"modified":"2023-06-01T00:00:00","modified_gmt":"2023-06-01T00:00:00","slug":"xet-nghiem-mau-got-chan","status":"publish","type":"post","link":"https:\/\/www.docosan.com\/blog\/xet-nghiem\/xet-nghiem-mau-got-chan\/","title":{"rendered":"T\u1ed5ng quan v\u1ec1 ph\u01b0\u01a1ng ph\u00e1p x\u00e9t nghi\u1ec7m m\u00e1u g\u00f3t ch\u00e2n"},"content":{"rendered":"\n

X\u00e9t nghi\u1ec7m m\u00e1u g\u00f3t ch\u00e2n l\u00e0 m\u1ed9t x\u00e9t nghi\u1ec7m s\u00e0ng l\u1ecdc gi\u00e0nh cho tr\u1ebb s\u01a1 sinh gi\u00fap b\u00e1c s\u0129 t\u1ea7m so\u00e1t m\u1ed9t s\u1ed1 c\u0103n b\u1ec7nh di truy\u1ec1n, r\u1ed1i lo\u1ea1n chuy\u1ec3n h\u00f3a \u1edf tr\u1ebb (nh\u1eefng b\u1ec7nh l\u00fd nghi\u00eam tr\u1ecdng c\u00f3 th\u1ec3 khi\u1ebfn tr\u1ebb ch\u1eadm ph\u00e1t tri\u1ec3n v\u1ec1 th\u1ec3 l\u1ef1c, tr\u00ed tu\u1ec7 v\u00e0 th\u1eadm ch\u00ed t\u1eed vong). H\u00e3y c\u00f9ng Doctor c\u00f3 s\u1eb5n<\/strong><\/a> t\u00ecm hi\u1ec3u r\u00f5 h\u01a1n v\u1ec1 ph\u01b0\u01a1ng ph\u00e1p x\u00e9t nghi\u1ec7m n\u00e0y trong b\u00e0i vi\u1ebft d\u01b0\u1edbi \u0111\u00e2y.<\/p>\n\n\n\n

X\u00e9t nghi\u1ec7m m\u00e1u ng\u00f3n ch\u00e2n \u0111\u1ec3 l\u00e0m g\u00ec?<\/h2>\n\n\n\n

X\u00e9t nghi\u1ec7m m\u00e1u g\u00f3t ch\u00e2n nh\u1eb1m x\u00e1c \u0111\u1ecbnh xem tr\u1ebb s\u01a1 sinh c\u00f3 m\u1eafc 1 trong 9 c\u0103n b\u1ec7nh hi\u1ebfm g\u1eb7p nh\u01b0ng c\u1ef1c k\u1ef3 nghi\u00eam tr\u1ecdng kh\u00f4ng. Khi b\u00e9 \u0111\u01b0\u1ee3c 5 ng\u00e0y tu\u1ed5i (\u0111\u00f4i khi 6,7 ho\u1eb7c 8 ng\u00e0y tu\u1ed5i), b\u00e1c s\u0129 s\u1ebd ch\u00edch ng\u00f3n ch\u00e2n v\u00e0 l\u1ea5y m\u00e1u c\u1ee7a b\u00e9. \u0110\u1ed1i v\u1edbi nh\u1eefng tr\u1ebb m\u1eafc ph\u1ea3i c\u0103n b\u1ec7nh n\u00e0y, vi\u1ec7c x\u00e9t nghi\u1ec7m l\u00e0 c\u1ef1c k\u1ef3 c\u00f3 gi\u00e1 tr\u1ecb. \u0110i\u1ec1u tr\u1ecb s\u1edbm gi\u00fap tr\u1ebb c\u1ea3i thi\u1ec7n s\u1ee9c kh\u1ecfe, ng\u0103n ng\u1eeba t\u00e0n t\u1eadt nghi\u00eam tr\u1ecdng hay th\u1eadm ch\u00ed t\u1eed vong.<\/p>\n\n\n\n

\"xet
X\u00e9t nghi\u1ec7m m\u00e1u g\u00f3t ch\u00e2n tr\u1ebb s\u01a1 sinh gi\u00fap s\u00e0ng l\u1ecdc 9 c\u0103n b\u1ec7nh nguy hi\u1ec3m<\/figcaption><\/figure>\n\n\n\n

X\u00e9t nghi\u1ec7m m\u00e1u ng\u00f3n ch\u00e2n gi\u00fap s\u00e0ng l\u1ecdc b\u1ec7nh g\u00ec?<\/h2>\n\n\n\n

X\u00e9t nghi\u1ec7m m\u00e1u ng\u00f3n ch\u00e2n cho b\u00e9 gi\u00fap ph\u00e1t hi\u1ec7n 9 t\u00ecnh tr\u1ea1ng hi\u1ebfm g\u1eb7p nh\u01b0ng nghi\u00eam tr\u1ecdng sau \u0111\u00e2y:<\/p>\n\n\n\n

B\u1ec7nh h\u1ed3ng c\u1ea7u h\u00ecnh li\u1ec1m<\/h3>\n\n\n\n

\u0110\u00e2y l\u00e0 m\u1ed9t b\u1ec7nh di truy\u1ec1n v\u1ec1 m\u00e1u nghi\u00eam tr\u1ecdng. B\u1ec7nh h\u1ed3ng c\u1ea7u h\u00ecnh li\u1ec1m \u1ea3nh h\u01b0\u1edfng \u0111\u1ebfn hemoglobin – m\u1ed9t lo\u1ea1i protein gi\u00e0u ch\u1ea5t s\u1eaft trong c\u00e1c t\u1ebf b\u00e0o h\u1ed3ng c\u1ea7u c\u00f3 ch\u1ee9c n\u0103ng v\u1eadn chuy\u1ec3n oxy \u0111i kh\u1eafp c\u01a1 th\u1ec3. Nh\u1eefng em b\u00e9 b\u1ecb t\u00ecnh tr\u1ea1ng n\u00e0y s\u1ebd c\u1ea7n \u0111\u01b0\u1ee3c ch\u0103m s\u00f3c \u0111\u1eb7c bi\u1ec7t trong su\u1ed1t cu\u1ed9c \u0111\u1eddi.<\/p>\n\n\n\n

Ng\u01b0\u1eddi b\u1ecb b\u1ec7nh h\u1ed3ng c\u1ea7u h\u00ecnh li\u1ec1m c\u00f3 th\u1ec3 b\u1ecb \u0111au d\u1eef d\u1ed9i v\u00e0 g\u1eb7p nhi\u1ec5m tr\u00f9ng nghi\u00eam tr\u1ecdng, \u0111e d\u1ecda t\u00ednh m\u1ea1ng. H\u1ecd th\u01b0\u1eddng b\u1ecb thi\u1ebfu m\u00e1u v\u00ec c\u00e1c t\u1ebf b\u00e0o m\u00e1u g\u1eb7p kh\u00f3 kh\u0103n trong vi\u1ec7c v\u1eadn chuy\u1ec3n oxy. <\/p>\n\n\n\n

Vi\u1ec7c x\u00e9t nghi\u1ec7m s\u00e0ng l\u1ecdc v\u00e0 \u0111i\u1ec1u tr\u1ecb s\u1edbm gi\u00fap b\u00e9 s\u1ed1ng kh\u1ecfe m\u1ea1nh h\u01a1n. Ph\u1ee5 n\u1eef mang thai c\u0169ng \u0111\u01b0\u1ee3c ki\u1ec3m tra \u0111\u1ecbnh k\u1ef3 \u0111\u1ec3 ph\u00e1t hi\u1ec7n b\u1ec7nh h\u1ed3ng c\u1ea7u h\u00ecnh li\u1ec1m trong th\u1eddi k\u1ef3 \u0111\u1ea7u c\u1ee7a thai k\u1ef3.<\/p>\n\n\n\n

B\u1ec7nh x\u01a1 nang<\/h3>\n\n\n\n

\u0110\u00e2y l\u00e0 t\u00ecnh tr\u1ea1ng di truy\u1ec1n \u1ea3nh h\u01b0\u1edfng \u0111\u1ebfn ti\u00eau h\u00f3a v\u00e0 ph\u1ed5i. Tr\u1ebb s\u01a1 sinh b\u1ecb x\u01a1 nang c\u00f3 th\u1ec3 kh\u00f4ng d\u1ec5 t\u0103ng c\u00e2n v\u00e0 d\u1ec5 b\u1ecb nhi\u1ec5m tr\u00f9ng ng\u1ef1c. Tuy nhi\u00ean, tr\u1ebb c\u00f3 th\u1ec3 \u0111\u01b0\u1ee3c \u0111i\u1ec1u tr\u1ecb s\u1edbm b\u1eb1ng ch\u1ebf \u0111\u1ed9 \u0103n u\u1ed1ng ph\u00f9 h\u1ee3p, s\u1eed d\u1ee5ng thu\u1ed1c men v\u00e0 v\u1eadt l\u00fd tr\u1ecb li\u1ec7u.<\/p>\n\n\n\n

Suy gi\u00e1p b\u1ea9m sinh<\/h3>\n\n\n\n

Tr\u1ebb b\u1ecb suy gi\u00e1p b\u1ea9m sinh kh\u00f4ng c\u00f3 \u0111\u1ee7 hormone thyroxine trong c\u01a1 th\u1ec3, khi\u1ebfn tr\u1ebb kh\u00f4ng ph\u00e1t tri\u1ec3n \u0111\u00fang c\u00e1ch v\u00e0 c\u00f3 th\u1ec3 d\u1eabn \u0111\u1ebfn khuy\u1ebft t\u1eadt h\u1ecdc t\u1eadp. Tr\u1ebb c\u1ea7n \u0111i\u1ec1u tr\u1ecb s\u1edbm b\u1eb1ng thu\u1ed1c vi\u00ean thyroxine \u0111\u1ec3 gi\u00fap tr\u1ebb ph\u00e1t tri\u1ec3n b\u00ecnh th\u01b0\u1eddng.<\/p>\n\n\n\n

B\u1ec7nh chuy\u1ec3n h\u00f3a di truy\u1ec1n<\/h3>\n\n\n\n

N\u1ebfu gia \u0111\u00ecnh b\u1ea1n c\u00f3 ng\u01b0\u1eddi m\u1eafc b\u1ec7nh chuy\u1ec3n h\u00f3a di truy\u1ec1n, c\u1ea7n th\u00f4ng b\u00e1o cho b\u00e1c s\u0129. <\/p>\n\n\n\n

X\u00e9t nghi\u1ec7m m\u00e1u g\u00f3t ch\u00e2n nh\u1eb1m kh\u00e1m s\u00e0ng l\u1ecdc 6 b\u1ec7nh chuy\u1ec3n h\u00f3a di truy\u1ec1n bao g\u1ed3m:<\/p>\n\n\n\n

    \n
  • Phenylketon ni\u1ec7u (PKU).<\/li>\n\n\n\n
  • Thi\u1ebfu h\u1ee5t Dehydrogenase acyl-CoA chu\u1ed7i trung b\u00ecnh (MCAD).<\/li>\n\n\n\n
  • B\u1ec7nh siro ni\u1ec7u (Maple syrup urine disease – MSUD).<\/li>\n\n\n\n
  • B\u1ec7nh Isovaleric Acidemia (IVA).<\/li>\n\n\n\n
  • B\u1ec7nh r\u1ed1i lo\u1ea1n chuy\u1ec3n h\u00f3a axit Glutaric lo\u1ea1i I.<\/li>\n\n\n\n
  • Homocystin ni\u1ec7u (pyridoxine kh\u00f4ng ph\u1ea3n \u1ee9ng) (HCU).<\/li>\n<\/ul>\n\n\n\n

    C\u00e1c c\u0103n b\u1ec7nh tr\u00ean c\u00f3 th\u1ec3 \u0111e d\u1ecda t\u00ednh m\u1ea1ng ho\u1eb7c g\u00e2y ra c\u00e1c v\u1ea5n \u0111\u1ec1 nghi\u00eam tr\u1ecdng v\u1ec1 ph\u00e1t tri\u1ec3n c\u1ee7a b\u00e9. Tuy nhi\u00ean, b\u1ec7nh c\u00f3 th\u1ec3 \u0111\u01b0\u1ee3c \u0111i\u1ec1u tr\u1ecb b\u1eb1ng m\u1ed9t ch\u1ebf \u0111\u1ed9 \u0103n u\u1ed1ng khoa h\u1ecdc v\u00e0 \u0111\u00f4i khi c\u1ea7n c\u1ea3 thu\u1ed1c.<\/p>\n\n\n\n

    Bao l\u00e2u th\u00ec nh\u1eadn \u0111\u01b0\u1ee3c k\u1ebft qu\u1ea3?<\/h2>\n\n\n\n

    B\u1ea1n th\u01b0\u1eddng s\u1ebd nh\u1eadn \u0111\u01b0\u1ee3c k\u1ebft qu\u1ea3 khi b\u00e9 \u0111\u01b0\u1ee3c 6 \u0111\u1ebfn 8 tu\u1ea7n tu\u1ed5i. Trong tr\u01b0\u1eddng h\u1ee3p b\u00e9 m\u1eafc b\u1ec7nh, b\u1ea1n c\u00f3 th\u1ec3 nh\u1eadn \u0111\u01b0\u1ee3c k\u1ebft qu\u1ea3:<\/p>\n\n\n\n

      \n
    • M\u1eafc b\u1ec7nh suy gi\u00e1p: 1-2 ng\u00e0y sau \u0111\u00f3.<\/li>\n\n\n\n
    • M\u1eafc b\u1ec7nh x\u01a1 nang: Tr\u01b0\u1edbc khi b\u00e9 4 tu\u1ea7n tu\u1ed5i.<\/li>\n\n\n\n
    • M\u1eafc b\u1ec7nh h\u1ed3ng c\u1ea7u h\u00ecnh li\u1ec1m: Tr\u01b0\u1edbc khi b\u00e9 6 tu\u1ea7n tu\u1ed5i.<\/li>\n<\/ul>\n\n\n\n

      H\u1ea7u h\u1ebft tr\u1ebb s\u01a1 sinh s\u1ebd c\u00f3 k\u1ebft qu\u1ea3 b\u00ecnh th\u01b0\u1eddng. X\u00e9t nghi\u1ec7m m\u00e1u g\u00f3t ch\u00e2n c\u00f3 th\u1ec3 kh\u00f4ng ch\u00ednh x\u00e1c ho\u00e0n to\u00e0n, v\u00ed d\u1ee5 nh\u01b0 tr\u01b0\u1eddng h\u1ee3p \u00e2m t\u00ednh gi\u1ea3, ho\u1eb7c b\u00e9 c\u00f3 k\u1ebft qu\u1ea3 d\u01b0\u01a1ng t\u00ednh nh\u01b0ng kh\u00f4ng c\u00f3 ngh\u0129a l\u00e0 b\u00e9 m\u1eafc b\u1ec7nh, m\u00e0 l\u00e0 b\u00e9 c\u00f3 nhi\u1ec1u kh\u1ea3 n\u0103ng b\u1ecb b\u1ec7nh.<\/p>\n\n\n\n

      Ph\u00f2ng kh\u00e1m t\u01b0 v\u1ea5n v\u00e0 th\u1ef1c hi\u1ec7n x\u00e9t nghi\u1ec7m m\u00e1u g\u00f3t ch\u00e2n<\/h2>\n\n\n\n
        \n
      • Golden Healthcare, T\u00e2n B\u00ecnh, TP.HCM.<\/span><\/li>\n<\/ul>\n\n\n\n