{"id":4029,"date":"2019-05-24T18:53:08","date_gmt":"2019-05-24T18:53:08","guid":{"rendered":"https:\/\/lpfch.org\/prenatal-testing-making-breakthroughs\/"},"modified":"2024-02-14T14:08:01","modified_gmt":"2024-02-14T14:08:01","slug":"prenatal-testing-making-breakthroughs","status":"publish","type":"post","link":"https:\/\/lpfch.org\/vi\/impact-stories\/prenatal-testing-making-breakthroughs\/","title":{"rendered":"X\u00e9t nghi\u1ec7m tr\u01b0\u1edbc sinh: \u0110\u1ed9t ph\u00e1"},"content":{"rendered":"

C\u00e1c b\u00e1c s\u0129 s\u1ebd s\u1edbm c\u00f3 th\u1ec3 d\u1ef1 \u0111o\u00e1n t\u00ecnh tr\u1ea1ng sinh non b\u1eb1ng x\u00e9t nghi\u1ec7m m\u00e1u \u0111\u01a1n gi\u1ea3n.<\/h3>\n

Khi v\u1ee3 mang thai \u0111\u1ee9a con \u0111\u1ea7u l\u00f2ng, ti\u1ebfn s\u0129 v\u1eadt l\u00fd Stephen Quake \u0111\u00e3 tr\u1ea3i qua m\u1ed9t tr\u1ea3i nghi\u1ec7m \u0111\u00e1ng lo ng\u1ea1i, l\u00e0m thay \u0111\u1ed5i h\u01b0\u1edbng \u0111i c\u00f4ng vi\u1ec7c c\u1ee7a \u00f4ng. V\u1ee3 \u00f4ng \u0111\u01b0\u1ee3c ch\u1ecdc \u1ed1i, trong \u0111\u00f3 b\u00e1c s\u0129 \u0111\u01b0a m\u1ed9t c\u00e2y kim v\u00e0o b\u1ee5ng b\u00e0 \u0111\u1ec3 l\u1ea5y d\u1ecbch nh\u1eb1m x\u00e1c \u0111\u1ecbnh c\u00e1c b\u1ea5t th\u01b0\u1eddng di truy\u1ec1n ti\u1ec1m \u1ea9n nh\u01b0 h\u1ed9i ch\u1ee9ng Down. X\u00e9t nghi\u1ec7m n\u00e0y c\u00f3 th\u1ec3 g\u00e2y nguy hi\u1ec3m \u0111\u1ebfn t\u00ednh m\u1ea1ng c\u1ee7a c\u1ea3 m\u1eb9 v\u00e0 con.<\/p>\n

Quake, gi\u00e1m \u0111\u1ed1c \u0111i\u1ec1u h\u00e0nh c\u1ee7a Quake, cho bi\u1ebft: "\u0110\u00f3 l\u00e0 lo\u1ea1i tr\u1ea3i nghi\u1ec7m khi\u1ebfn ch\u00fang t\u00f4i h\u01a1i s\u1ed1c, c\u0169ng nh\u01b0 nhi\u1ec1u ng\u01b0\u1eddi kh\u00e1c". Gi\u00e1o s\u01b0 Lee Otterson v\u1ec1 K\u1ef9 thu\u1eadt sinh h\u1ecdc v\u00e0 V\u1eadt l\u00fd \u1ee9ng d\u1ee5ng<\/em>. \u201cV\u00ec v\u1eady, t\u00f4i b\u1eaft \u0111\u1ea7u nh\u1eadn ra r\u1eb1ng c\u00f3 nh\u1eefng v\u1ea5n \u0111\u1ec1 quan tr\u1ecdng v\u1ec1 s\u1ee9c kh\u1ecfe tr\u01b0\u1edbc khi sinh c\u1ea7n \u0111\u01b0\u1ee3c gi\u1ea3i quy\u1ebft.\u201d<\/p>\n

V\u1ea5n \u0111\u1ec1 n\u00e0y \u0111\u00e3 \u00e1m \u1ea3nh \u00f4ng khi \u00f4ng \u0111\u1ebfn Stanford v\u00e0o n\u0103m 2005. \u00d4ng c\u1ea3m th\u1ea5y h\u1ee9ng th\u00fa v\u1edbi m\u1ed9t quan s\u00e1t c\u0169 cho th\u1ea5y DNA t\u1ef1 do c\u1ee7a thai nhi c\u00f3 th\u1ec3 \u0111\u01b0\u1ee3c t\u00ecm th\u1ea5y trong m\u00e1u c\u1ee7a ng\u01b0\u1eddi m\u1eb9. \u00d4ng t\u1ef1 h\u1ecfi li\u1ec7u hi\u1ec7n t\u01b0\u1ee3ng n\u00e0y c\u00f3 th\u1ec3 \u0111\u01b0\u1ee3c \u1ee9ng d\u1ee5ng th\u1ef1c t\u1ebf trong th\u1eed nghi\u1ec7m l\u00e2m s\u00e0ng hay kh\u00f4ng. T\u00ecnh c\u1edd thay, Ti\u1ebfn s\u0129 Yair Blumenfeld, l\u00fac \u0111\u00f3 l\u00e0 nghi\u00ean c\u1ee9u sinh v\u1ec1 y h\u1ecdc b\u00e0 m\u1eb9 v\u00e0 thai nhi t\u1ea1i Stanford, c\u0169ng quan t\u00e2m \u0111\u1ebfn c\u00e2u h\u1ecfi t\u01b0\u01a1ng t\u1ef1.<\/p>\n

Blumenfeld \u0111\u00e3 gi\u00fap tuy\u1ec3n d\u1ee5ng m\u1ed9t nh\u00f3m ph\u1ee5 n\u1eef mang thai t\u1ea1i B\u1ec7nh vi\u1ec7n Nhi Packard, nh\u1eefng ng\u01b0\u1eddi \u0111\u00e3 \u0111\u1ed3ng \u00fd hi\u1ebfn m\u00e1u \u0111\u1ec3 nghi\u00ean c\u1ee9u. S\u1eed d\u1ee5ng ph\u01b0\u01a1ng ph\u00e1p gi\u1ea3i tr\u00ecnh t\u1ef1 gen ti\u00ean ti\u1ebfn \u0111\u01b0\u1ee3c ph\u00e1t tri\u1ec3n trong ph\u00f2ng th\u00ed nghi\u1ec7m c\u1ee7a Quake, c\u00e1c nh\u00e0 nghi\u00ean c\u1ee9u \u0111\u00e3 ph\u00e1t hi\u1ec7n ch\u00ednh x\u00e1c ch\u00edn tr\u01b0\u1eddng h\u1ee3p m\u1eafc h\u1ed9i ch\u1ee9ng Down \u1edf nh\u1eefng ph\u1ee5 n\u1eef n\u00e0y v\u00e0o tu\u1ea7n th\u1ee9 14 c\u1ee7a thai k\u1ef3.<\/p>\n

K\u1ebft qu\u1ea3 \u0111\u01b0\u1ee3c c\u00f4ng b\u1ed1 n\u0103m 2008, m\u1edf ra m\u1ed9t h\u01b0\u1edbng \u0111i m\u1edbi cho x\u00e9t nghi\u1ec7m m\u00e1u kh\u00f4ng x\u00e2m l\u1ea5n, hi\u1ec7n \u0111ang \u0111\u01b0\u1ee3c h\u00e0ng tri\u1ec7u ph\u1ee5 n\u1eef mang thai tr\u00ean to\u00e0n th\u1ebf gi\u1edbi s\u1eed d\u1ee5ng. Theo Ti\u1ebfn s\u0129 David Stevenson, x\u00e9t nghi\u1ec7m n\u00e0y g\u1ea7n nh\u01b0 \u0111\u00e3 thay th\u1ebf ph\u01b0\u01a1ng ph\u00e1p ch\u1ecdc \u1ed1i. Gi\u00e1o s\u01b0 Nhi khoa Harold K. Faber<\/em>, ph\u00f3 khoa c\u1ea5p cao v\u1ec1 s\u1ee9c kh\u1ecfe b\u00e0 m\u1eb9 v\u00e0 tr\u1ebb em, v\u00e0 gi\u00e1o s\u01b0, theo s\u1ef1 \u1ee7y nhi\u1ec7m, v\u1ec1 s\u1ea3n ph\u1ee5 khoa.<\/p>\n

\u201c\u0110i\u1ec1u n\u00e0y \u0111\u00e3 d\u1eabn \u0111\u1ebfn m\u1ed9t s\u1ef1 thay \u0111\u1ed5i ho\u00e0n to\u00e0n trong c\u00e1ch h\u00e0nh ngh\u1ec1 c\u1ee7a c\u00e1c b\u00e1c s\u0129 s\u1ea3n khoa \u1edf \u0111\u1ea5t n\u01b0\u1edbc n\u00e0y\u2014v\u00e0 tr\u00ean to\u00e0n th\u1ebf gi\u1edbi,\u201d Stevenson n\u00f3i. \u201cV\u00e0 t\u1ea5t c\u1ea3 b\u1eaft \u0111\u1ea7u t\u1eeb Stanford.\u201d<\/p>\n

M\u1ed9t c\u00e1ch m\u1edbi \u0111\u1ec3 d\u1ef1 \u0111o\u00e1n sinh non<\/h3>\n

Quake b\u1eaft \u0111\u1ea7u h\u1ee3p t\u00e1c v\u1edbi Stevenson \u0111\u1ec3 gi\u1ea3i quy\u1ebft m\u1ed9t v\u1ea5n \u0111\u1ec1 nan gi\u1ea3i kh\u00e1c trong thai k\u1ef3\u2014sinh non\u2014l\u00e0 nguy\u00ean nh\u00e2n h\u00e0ng \u0111\u1ea7u g\u00e2y t\u1eed vong \u1edf tr\u1ebb em d\u01b0\u1edbi 5 tu\u1ed5i tr\u00ean to\u00e0n th\u1ebf gi\u1edbi. Con g\u00e1i c\u1ee7a Quake c\u0169ng sinh non m\u1ed9t th\u00e1ng, m\u1ed9t \u0111\u1ee9a tr\u1ebb y\u1ebfu \u1edbt, ch\u1ec9 n\u1eb7ng kho\u1ea3ng ph\u1ea7n tr\u0103m th\u1ee9 5. M\u1eb7c d\u00f9 hi\u1ec7n t\u1ea1i con b\u00e9 \u0111\u00e3 17 tu\u1ed5i, nh\u01b0ng \u00f4ng bi\u1ebft r\u1eb1ng ph\u1ea3i c\u00f3 c\u00e1ch n\u00e0o \u0111\u00f3 \u0111\u1ec3 d\u1ef1 \u0111o\u00e1n nh\u1eefng b\u00e0 m\u1eb9 n\u00e0o c\u00f3 th\u1ec3 sinh non v\u00e0 ng\u0103n ng\u1eeba nh\u1eefng ca t\u1eed vong v\u00e0 bi\u1ebfn ch\u1ee9ng kh\u00f4ng \u0111\u00e1ng c\u00f3 \u1edf tr\u1ebb s\u01a1 sinh.<\/p>\n

May m\u1eafn thay, m\u1ed9t trong nh\u1eefng \u0111\u1ed3ng nghi\u1ec7p c\u1ee7a \u00f4ng t\u1ea1i Stanford, gi\u00e1o s\u01b0 th\u1ec9nh gi\u1ea3ng Mads Melbye, Ti\u1ebfn s\u0129 Y khoa, \u0111\u00e3 t\u1eadp h\u1ee3p m\u1ed9t nh\u00f3m g\u1ed3m 31 ph\u1ee5 n\u1eef \u0110an M\u1ea1ch \u0111ang mang thai, s\u1eb5n s\u00e0ng l\u1ea5y m\u00e1u h\u00e0ng tu\u1ea7n. S\u1eed d\u1ee5ng nh\u1eefng m\u1eabu n\u00e0y, c\u00e1c nh\u00e0 nghi\u00ean c\u1ee9u c\u00f3 th\u1ec3 theo d\u00f5i RNA trong m\u00e1u c\u1ee7a nh\u1eefng ng\u01b0\u1eddi ph\u1ee5 n\u1eef n\u00e0y, nghe l\u00e9n c\u00e1c th\u00f4ng \u0111i\u1ec7p ph\u00e2n t\u1eed \u0111\u01b0\u1ee3c t\u1ea1o ra trong su\u1ed1t qu\u00e1 tr\u00ecnh mang thai b\u1edfi m\u1eb9, em b\u00e9 v\u00e0 nhau thai.<\/p>\n

\u201cCh\u00fang t\u00f4i c\u00f3 th\u1ec3 theo d\u00f5i to\u00e0n b\u1ed9 qu\u00e1 tr\u00ecnh ph\u00e1t tri\u1ec3n c\u1ee7a con ng\u01b0\u1eddi,\u201d Quake n\u00f3i. \u201cTh\u1eadt tuy\u1ec7t v\u1eddi.\u201d<\/p>\n

T\u1eeb d\u1eef li\u1ec7u n\u00e0y, h\u1ecd \u0111\u00e3 x\u00e1c \u0111\u1ecbnh \u0111\u01b0\u1ee3c ch\u00edn gen do nhau thai s\u1ea3n xu\u1ea5t c\u00f3 th\u1ec3 d\u1ef1 \u0111o\u00e1n tu\u1ed5i thai nhi trong tam c\u00e1 nguy\u1ec7t th\u1ee9 ba. Nh\u1eefng \u01b0\u1edbc t\u00ednh n\u00e0y t\u01b0\u01a1ng \u0111\u01b0\u01a1ng v\u1edbi \u01b0\u1edbc t\u00ednh d\u1ef1a tr\u00ean si\u00eau \u00e2m; tuy nhi\u00ean, c\u00f4ng ngh\u1ec7 m\u1edbi n\u00e0y c\u00f3 m\u1ed9t s\u1ed1 \u01b0u \u0111i\u1ec3m, Quake n\u00f3i.<\/p>\n

\u201cSi\u00eau \u00e2m ch\u1ec9 c\u00f3 hi\u1ec7u qu\u1ea3 trong giai \u0111o\u1ea1n \u0111\u1ea7u thai k\u1ef3,\u201d \u00f4ng n\u00f3i. \u201cN\u1ebfu b\u1ea1n l\u1ee1 m\u1ea5t th\u1eddi \u0111i\u1ec3m \u0111\u00f3, s\u1ebd kh\u00f4ng c\u00f2n nhi\u1ec1u l\u1ef1a ch\u1ecdn kh\u00e1c. Gi\u1edd \u0111\u00e2y, ch\u00fang t\u00f4i c\u00f3 th\u1ec3 cung c\u1ea5p m\u1ed9t l\u1ef1a ch\u1ecdn kh\u00e1c, v\u00e0 ch\u00fang t\u00f4i c\u00f3 th\u1ec3 th\u1ef1c hi\u1ec7n theo c\u00e1ch m\u00e0 ch\u00fang t\u00f4i cho l\u00e0 r\u1ebb h\u01a1n v\u00e0 d\u1ec5 s\u1eed d\u1ee5ng h\u01a1n \u1edf c\u00e1c n\u01b0\u1edbc \u0111ang ph\u00e1t tri\u1ec3n v\u00ec n\u00f3 kh\u00f4ng \u0111\u00f2i h\u1ecfi thi\u1ebft b\u1ecb \u0111\u1eaft ti\u1ec1n.\u201d<\/p>\n

\u00d4ng v\u00e0 c\u00e1c c\u1ed9ng s\u1ef1 c\u0169ng \u0111\u00e3 l\u00e0m vi\u1ec7c v\u1edbi hai nh\u00f3m ph\u1ee5 n\u1eef mang thai t\u1ea1i \u0110\u1ea1i h\u1ecdc Pennsylvania v\u00e0 \u0110\u1ea1i h\u1ecdc Alabama, nh\u1eefng ng\u01b0\u1eddi c\u00f3 nguy c\u01a1 sinh non do ti\u1ec1n s\u1eed b\u1ec7nh l\u00fd. C\u00e1c nh\u00e0 nghi\u00ean c\u1ee9u \u0111\u00e3 l\u1ea5y m\u1eabu m\u00e1u c\u1ee7a nh\u1eefng ph\u1ee5 n\u1eef n\u00e0y hai l\u1ea7n v\u00e0 x\u00e1c \u0111\u1ecbnh \u0111\u01b0\u1ee3c b\u1ea3y gen t\u1eeb m\u1eb9 v\u00e0 nhau thai c\u00f3 th\u1ec3 d\u1ef1 \u0111o\u00e1n thai k\u1ef3 n\u00e0o c\u00f3 kh\u1ea3 n\u0103ng k\u1ebft th\u00fac s\u1edbm.<\/p>\n

K\u1ebft qu\u1ea3, \u0111\u01b0\u1ee3c c\u00f4ng b\u1ed1 n\u0103m 2018, c\u00f3 th\u1ec3 d\u1eabn \u0111\u1ebfn x\u00e9t nghi\u1ec7m s\u00e0ng l\u1ecdc sinh non \u0111\u1ea7u ti\u00ean. Quake cho bi\u1ebft, x\u00e9t nghi\u1ec7m n\u00e0y s\u1ebd gi\u00fap ph\u1ee5 n\u1eef c\u00f3 c\u01a1 h\u1ed9i chu\u1ea9n b\u1ecb, ch\u1eb3ng h\u1ea1n nh\u01b0 \u0111\u01b0\u1ee3c ch\u0103m s\u00f3c b\u1edfi b\u00e1c s\u0129 s\u1ea3n khoa c\u00f3 nguy c\u01a1 cao v\u00e0 \u1edf g\u1ea7n b\u1ec7nh vi\u1ec7n khi \u0111\u1ebfn ng\u00e0y sinh.<\/p>\n

\u00d4ng c\u00f9ng Melbye v\u00e0 Ti\u1ebfn s\u0129 Michael Snyder, Ch\u1ee7 t\u1ecbch Khoa Di truy\u1ec1n h\u1ecdc t\u1ea1i \u0110\u1ea1i h\u1ecdc Stanford, \u0111\u00e3 th\u00e0nh l\u1eadp m\u1ed9t c\u00f4ng ty kh\u1edfi nghi\u1ec7p \u0111ang l\u00ean k\u1ebf ho\u1ea1ch th\u1eed nghi\u1ec7m quy m\u00f4 l\u1edbn x\u00e9t nghi\u1ec7m s\u00e0ng l\u1ecdc sinh non, d\u1ef1 ki\u1ebfn ra m\u1eaft th\u1ecb tr\u01b0\u1eddng trong v\u00f2ng hai \u0111\u1ebfn ba n\u0103m t\u1edbi. \u00d4ng cho bi\u1ebft s\u1ef1 h\u1ee3p t\u00e1c l\u00e0 ch\u00eca kh\u00f3a th\u00e0nh c\u00f4ng c\u1ee7a d\u1ef1 \u00e1n k\u00e9o d\u00e0i b\u1ea3y n\u0103m n\u00e0y.<\/p>\n

Quake cho bi\u1ebft: \u201cKh\u00f4ng ai c\u00f3 th\u1ec3 t\u1ef1 m\u00ecnh l\u00e0m \u0111\u01b0\u1ee3c \u0111i\u1ec1u \u0111\u00f3, v\u00e0 b\u1eb1ng c\u00e1ch h\u1ee3p t\u00e1c v\u1edbi nhau, ch\u00fang t\u00f4i \u0111\u00e3 c\u00f3 th\u1ec3 ho\u00e0n th\u00e0nh \u0111\u01b0\u1ee3c \u0111i\u1ec1u g\u00ec \u0111\u00f3 c\u00f3 \u00fd ngh\u0129a\u201d.<\/p>\n

Xem b\u00e0i ph\u00e1t bi\u1ec3u quan tr\u1ecdng c\u1ee7a Stephen Quake t\u1ea1i h\u1ed9i ngh\u1ecb Childx: supportLPCH.org\/Quake<\/a>.<\/p>\n

Ph\u1ea7n l\u1edbn ngu\u1ed3n t\u00e0i tr\u1ee3 cho c\u00f4ng tr\u00ecnh n\u00e0y \u0111\u1ebfn t\u1eeb c\u00e1c ho\u1ea1t \u0111\u1ed9ng t\u1eeb thi\u1ec7n, bao g\u1ed3m Trung t\u00e2m nghi\u00ean c\u1ee9u tr\u1ebb sinh non March of Dimes t\u1ea1i Stanford; Qu\u1ef9 Bill v\u00e0 Melinda Gates; v\u00e0 Chan Zuckerberg Biohub, n\u01a1i Quake l\u00e0 \u0111\u1ed3ng ch\u1ee7 t\u1ecbch.<\/em><\/p>\n

B\u00e0i vi\u1ebft n\u00e0y ban \u0111\u1ea7u xu\u1ea5t hi\u1ec7n trong \u1ea5n b\u1ea3n M\u00f9a xu\u00e2n n\u0103m 2019 c\u1ee7a Tin t\u1ee9c Tr\u1ebb em Packard<\/a>.<\/em><\/p>","protected":false},"excerpt":{"rendered":"

C\u00e1c b\u00e1c s\u0129 s\u1ebd s\u1edbm c\u00f3 th\u1ec3 d\u1ef1 \u0111o\u00e1n t\u00ecnh tr\u1ea1ng sinh non ch\u1ec9 b\u1eb1ng m\u1ed9t x\u00e9t nghi\u1ec7m m\u00e1u \u0111\u01a1n gi\u1ea3n. Khi v\u1ee3 anh mang thai \u0111\u1ee9a con \u0111\u1ea7u l\u00f2ng, nh\u00e0 v\u1eadt l\u00fd Stephen Quake,\u2026<\/p>","protected":false},"author":17,"featured_media":15017,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"_relevanssi_hide_post":"","_relevanssi_hide_content":"","_relevanssi_pin_for_all":"","_relevanssi_pin_keywords":"","_relevanssi_unpin_keywords":"","_relevanssi_related_keywords":"","_relevanssi_related_include_ids":"","_relevanssi_related_exclude_ids":"","_relevanssi_related_no_append":"","_relevanssi_related_not_related":"","_relevanssi_related_posts":"","_relevanssi_noindex_reason":"","footnotes":""},"categories":[148],"class_list":["post-4029","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-in-the-news"],"acf":[],"yoast_head":"\nPrenatal Testing: Making Breakthroughs - Lucile Packard Foundation for Children's Health<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"http:\/\/lpfch.org\/vi\/impact-stories\/prenatal-testing-making-breakthroughs\/\" \/>\n<meta property=\"og:locale\" content=\"vi_VN\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Prenatal Testing: Making Breakthroughs\" \/>\n<meta property=\"og:description\" content=\"Doctors will soon be able to predict prematurity with a simple blood test. 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