{"id":147163,"date":"2023-01-27T01:11:28","date_gmt":"2023-01-27T01:11:28","guid":{"rendered":"https:\/\/labinsights.com\/acf_article\/doi-moi-sang-loc-tre-so-sinh-duoc-day-manh-tai-benh-vien-nhi-murdoch-o-uc\/"},"modified":"2026-02-23T06:07:52","modified_gmt":"2026-02-23T06:07:52","slug":"newborn-screening-innovation-ramps-up-at-murdoch-childrens-in-australia","status":"publish","type":"acf_article","link":"https:\/\/labinsights.com\/vi\/disease-area\/rare-diseases\/newborn-screening-innovation-ramps-up-at-murdoch-childrens-in-australia\/","title":{"rendered":"\u0110\u1ed5i m\u1edbi s\u00e0ng l\u1ecdc tr\u1ebb s\u01a1 sinh \u0111\u01b0\u1ee3c \u0111\u1ea9y m\u1ea1nh t\u1ea1i B\u1ec7nh vi\u1ec7n Nhi Murdoch \u1edf \u00dac"},"content":{"rendered":"

Khi ng\u00e0y c\u00e0ng c\u00f3 nhi\u1ec1u m\u1ed1i quan t\u00e2m v\u00e0 \u0111\u1ea7u t\u01b0 v\u00e0o s\u00e0ng l\u1ecdc m\u1eabu m\u00e1u tr\u1ebb s\u01a1 sinh (NBS) tr\u00ean to\u00e0n n\u01b0\u1edbc \u00dac, Vi\u1ec7n Nghi\u00ean c\u1ee9u Tr\u1ebb em Murdoch \u1edf Melbourne \u0111ang ng\u00e0y c\u00e0ng tr\u1edf th\u00e0nh m\u1ed9t trung t\u00e2m quan tr\u1ecdng v\u1ec1 nghi\u00ean c\u1ee9u v\u00e0 \u0111\u1ed5i m\u1edbi trong l\u0129nh v\u1ef1c NBS c\u1ee7a qu\u1ed1c gia.<\/p>\n

C\u00f3 tr\u1ee5 s\u1edf t\u1ea1i B\u1ec7nh vi\u1ec7n Nhi Ho\u00e0ng gia \u1edf Melbourne, th\u1ee7 \u0111\u00f4 c\u1ee7a Ti\u1ec3u bang Victoria \u1edf \u0111\u00f4ng nam \u00dac, Murdoch Children’s l\u00e0 m\u1ed9t trong nh\u1eefng vi\u1ec7n nghi\u00ean c\u1ee9u s\u1ee9c kh\u1ecfe tr\u1ebb em l\u1edbn nh\u1ea5t th\u1ebf gi\u1edbi. Vi\u1ec7n nghi\u00ean c\u1ee9u n\u00e0y qu\u1ea3n l\u00fd m\u1ed9t danh m\u1ee5c c\u00e1c ch\u01b0\u01a1ng tr\u00ecnh nghi\u00ean c\u1ee9u t\u1ea1o ra ki\u1ebfn th\u1ee9c v\u00e0 th\u00fac \u0111\u1ea9y l\u1ee3i \u00edch cho tr\u1ebb em \u1edf \u00dac v\u00e0 tr\u00ean to\u00e0n th\u1ebf gi\u1edbi. Vi\u1ec7n c\u0169ng t\u1ed5 ch\u1ee9c m\u1ed9t s\u1ed1 d\u1ecbch v\u1ee5 l\u00e2m s\u00e0ng, bao g\u1ed3m ch\u01b0\u01a1ng tr\u00ecnh NBS c\u1ee7a Victoria.<\/p>\n

M\u1eb7c d\u00f9 Murdoch Children\u2019s n\u1ed5i ti\u1ebfng v\u1edbi nhi\u1ec1u l\u0129nh v\u1ef1c h\u01a1n l\u00e0 ch\u1ec9 s\u00e0ng l\u1ecdc tr\u1ebb s\u01a1 sinh (NBS) v\u00e0 di truy\u1ec1n h\u1ecdc l\u00e2m s\u00e0ng, nh\u01b0ng t\u00e1c \u0111\u1ed9ng c\u1ee7a h\u1ecd trong l\u0129nh v\u1ef1c n\u00e0y l\u00e0 \u0111\u00e1ng ch\u00fa \u00fd v\u00e0 ng\u00e0y c\u00e0ng ph\u00e1t tri\u1ec3n. T\u1eeb vi\u1ec7c m\u1edf r\u1ed9ng c\u00e1c nh\u00f3m NBS hi\u1ec7n c\u00f3 \u0111\u1ebfn ph\u00e1t tri\u1ec3n c\u00e1c ph\u01b0\u01a1ng ph\u00e1p m\u1edbi \u0111\u1ec3 ph\u00e1t hi\u1ec7n c\u00e1c b\u1ec7nh di truy\u1ec1n hi\u1ebfm g\u1eb7p \u1edf tr\u1ebb s\u01a1 sinh, Murdoch Children\u2019s \u0111ang tri\u1ec3n khai c\u00e1c d\u1ef1 \u00e1n th\u1ec3 hi\u1ec7n s\u1ee9c m\u1ea1nh c\u1ee7a NBS nh\u01b0 m\u1ed9t c\u00f4ng c\u1ee5 y t\u1ebf c\u00f4ng c\u1ed9ng v\u00e0 ti\u1ec1m n\u0103ng mang l\u1ea1i nhi\u1ec1u l\u1ee3i \u00edch h\u01a1n trong nh\u1eefng n\u0103m t\u1edbi.<\/p>\n

M\u1edf r\u1ed9ng c\u00e1c nh\u00f3m NBS hi\u1ec7n c\u00f3<\/h2>\n

Murdoch Children\u2019s cung c\u1ea5p d\u1ecbch v\u1ee5 NBS th\u00f4ng qua D\u1ecbch v\u1ee5 Di truy\u1ec1n L\u00e2m s\u00e0ng Victoria (VCGS), m\u1ed9t c\u00f4ng ty con phi l\u1ee3i nhu\u1eadn cung c\u1ea5p c\u00e1c d\u1ecbch v\u1ee5 di truy\u1ec1n cho thai k\u1ef3, tr\u1ebb em v\u00e0 ng\u01b0\u1eddi l\u1edbn. T\u1ea5t c\u1ea3 c\u00e1c d\u1ecbch v\u1ee5 NBS t\u1ea1i VCGS \u0111\u1ec1u \u0111\u01b0\u1ee3c S\u1edf Y t\u1ebf Victoria t\u00e0i tr\u1ee3 c\u00f4ng khai v\u00e0 cung c\u1ea5p mi\u1ec5n ph\u00ed cho c\u01b0 d\u00e2n ti\u1ec3u bang.<\/p>\n

Trong nh\u00f3m NBS ti\u00eau chu\u1ea9n, VCGS hi\u1ec7n \u0111ang s\u00e0ng l\u1ecdc cho 26 b\u1ec7nh tr\u1ea1ng. V\u00e0o n\u0103m ngo\u00e1i, Murdoch Children\u2019s \u0111\u00e3 b\u1ed5 sung s\u00e0ng l\u1ecdc b\u1ec7nh t\u0103ng huy\u1ebft \u00e1p tuy\u1ebfn th\u01b0\u1ee3ng th\u1eadn b\u1ea9m sinh v\u00e0 theo c\u00e1c n\u1ed7 l\u1ef1c c\u1ee7a li\u00ean bang nh\u1eb1m m\u1edf r\u1ed9ng v\u00e0 chu\u1ea9n h\u00f3a c\u00e1c nh\u00f3m s\u00e0ng l\u1ecdc NBS tr\u00ean to\u00e0n qu\u1ed1c, b\u1ec7nh vi\u1ec7n hi\u1ec7n \u0111ang trong qu\u00e1 tr\u00ecnh b\u1ed5 sung th\u00eam c\u00e1c x\u00e9t nghi\u1ec7m NBS cho teo c\u01a1 t\u1ee7y s\u1ed1ng (SMA) v\u00e0 r\u1ed1i lo\u1ea1n suy gi\u1ea3m mi\u1ec5n d\u1ecbch k\u1ebft h\u1ee3p n\u1eb7ng (SCID), hai x\u00e9t nghi\u1ec7m g\u1ea7n \u0111\u00e2y \u0111\u00e3 \u0111\u01b0\u1ee3c tri\u1ec3n khai t\u1ea1i ti\u1ec3u bang l\u00e1ng gi\u1ec1ng New South Wales.<\/p>\n

Vi\u1ec7c m\u1edf r\u1ed9ng c\u00e1c nh\u00f3m s\u00e0ng l\u1ecdc, th\u1eadm ch\u00ed ch\u1ec9 th\u00eam m\u1ed9t b\u1ec7nh tr\u1ea1ng, \u0111\u00f2i h\u1ecfi n\u1ed7 l\u1ef1c r\u1ea5t l\u1edbn, theo nh\u1eadn \u0111\u1ecbnh c\u1ee7a B\u00e1c s\u0129 Ronda Greaves, Ph\u00f3 tr\u01b0\u1edfng Khoa Di truy\u1ec1n sinh h\u00f3a t\u1ea1i VCGS. C\u00e1c x\u00e9t nghi\u1ec7m SMA\/SCID s\u1ebd y\u00eau c\u1ea7u h\u1ecd s\u1eed d\u1ee5ng c\u00e1c ph\u01b0\u01a1ng ph\u00e1p ph\u00e2n t\u1eed trong ph\u00e2n t\u00edch c\u1ea5p \u0111\u1ed9 b\u1eadc m\u1ed9t l\u1ea7n \u0111\u1ea7u ti\u00ean, nh\u01b0ng Greaves cho r\u1eb1ng vi\u1ec7c tri\u1ec3n khai c\u00f4ng ngh\u1ec7 l\u00e0 ph\u1ea7n d\u1ec5 d\u00e0ng nh\u1ea5t. Ph\u1ea7n kh\u00f3 kh\u0103n h\u01a1n l\u00e0 \u0111\u00e0o t\u1ea1o nh\u00e2n vi\u00ean th\u00edch \u1ee9ng v\u1edbi thay \u0111\u1ed5i quy tr\u00ecnh l\u00e0m vi\u1ec7c m\u00e0 kh\u00f4ng \u1ea3nh h\u01b0\u1edfng \u0111\u1ebfn t\u00ednh to\u00e0n v\u1eb9n c\u1ee7a ch\u01b0\u01a1ng tr\u00ecnh NBS hi\u1ec7n c\u00f3.<\/p>\n

Gi\u00e1o d\u1ee5c v\u00e0 thu h\u00fat c\u1ed9ng \u0111\u1ed3ng tham gia v\u00e0o nghi\u00ean c\u1ee9u<\/h2>\n

Ngo\u00e0i vi\u1ec7c qu\u1ea3n l\u00fd c\u00e1c d\u1ecbch v\u1ee5 c\u1ee7a NBS, Murdoch Children’s c\u00f2n h\u1ed7 tr\u1ee3 c\u00e1c n\u1ed7 l\u1ef1c ti\u1ebfp c\u1eadn c\u1ed9ng \u0111\u1ed3ng, \u0111\u1ea3m b\u1ea3o t\u00ednh thu h\u00fat c\u1ee7a c\u00e1c d\u1ecbch v\u1ee5 NBS v\u00e0 gi\u00fap duy tr\u00ec l\u00f2ng tin c\u1ee7a c\u00f4ng ch\u00fang. C\u00e1c n\u1ed7 l\u1ef1c n\u00e0y \u0111\u00e3 gia t\u0103ng trong nh\u1eefng n\u0103m g\u1ea7n \u0111\u00e2y, theo Monica Ferrie, tr\u01b0\u1edfng nh\u00f3m M\u1ea1ng l\u01b0\u1edbi H\u1ed7 tr\u1ee3 Di truy\u1ec1n Victoria, m\u1ed9t t\u1ed5 ch\u1ee9c l\u00e0m vi\u1ec7c v\u1edbi c\u00e1c nh\u00f3m b\u1ec7nh nh\u00e2n v\u00e0 gia \u0111\u00ecnh m\u1eafc b\u1ec7nh hi\u1ebfm tr\u00ean to\u00e0n ti\u1ec3u bang.<\/p>\n

S\u1ef1 tham gia ch\u1ee7 \u0111\u1ed9ng c\u1ee7a c\u1ed9ng \u0111\u1ed3ng c\u0169ng th\u00fac \u0111\u1ea9y s\u1ef1 h\u1ed7 tr\u1ee3 cho c\u00e1c ch\u01b0\u01a1ng tr\u00ecnh nghi\u00ean c\u1ee9u NBS. B\u00e1c s\u0129 Meg Wall, Gi\u00e1m \u0111\u1ed1c \u0111i\u1ec1u h\u00e0nh c\u1ee7a VCGS, \u01b0\u1edbc t\u00ednh r\u1eb1ng kho\u1ea3ng 85\u201490% c\u00e1c b\u1eadc ph\u1ee5 huynh nh\u1eadn d\u1ecbch v\u1ee5 NBS s\u1ebd \u0111\u1ed3ng \u00fd chia s\u1ebb d\u1eef li\u1ec7u m\u1eabu m\u00e1u tr\u1ebb s\u01a1 sinh \u0111\u00e3 \u0111\u01b0\u1ee3c lo\u1ea1i b\u1ecf th\u00f4ng tin nh\u1eadn d\u1ea1ng v\u1edbi c\u00e1c nh\u00e0 nghi\u00ean c\u1ee9u c\u1ee7a Murdoch Children\u2019s.<\/p>\n

M\u1ed9t ph\u1ea7n d\u1eef li\u1ec7u NBS n\u00e0y c\u0169ng \u0111\u01b0\u1ee3c li\u00ean k\u1ebft v\u1edbi s\u00e1ng ki\u1ebfn Generation Victoria (GenV), m\u1ed9t nghi\u00ean c\u1ee9u l\u1ecbch s\u1eed t\u1ef1 nhi\u00ean to\u00e0n ti\u1ec3u bang tr\u1ecb gi\u00e1 55 tri\u1ec7u \u0111\u00f4 la, v\u1edbi m\u1ee5c ti\u00eau tuy\u1ec3n d\u1ee5ng 100.000 tr\u1ebb s\u01a1 sinh v\u00e0o cu\u1ed1i n\u0103m 2023 [1]. Th\u00f4ng qua GenV, cha m\u1eb9 c\u1ee7a tr\u1ebb s\u01a1 sinh s\u1ebd chia s\u1ebb theo chi\u1ec1u d\u1ecdc d\u1eef li\u1ec7u v\u1ec1 c\u00e1c th\u00f4ng s\u1ed1 s\u1ee9c kh\u1ecfe, x\u00e3 h\u1ed9i v\u00e0 ph\u00e1t tri\u1ec3n kh\u00e1c nhau. \u0110i\u1ec1u n\u00e0y s\u1ebd t\u1ea1o \u0111i\u1ec1u ki\u1ec7n thu\u1eadn l\u1ee3i cho nhi\u1ec1u lo\u1ea1i nghi\u00ean c\u1ee9u, bao g\u1ed3m hi\u1ec3u bi\u1ebft t\u1ed1t h\u01a1n v\u1ec1 ti\u1ec7n \u00edch l\u00e2m s\u00e0ng v\u00e0 t\u00e1c \u0111\u1ed9ng kinh t\u1ebf c\u1ee7a c\u00e1c ch\u01b0\u01a1ng tr\u00ecnh NBS.<\/p>\n

Ph\u00e1t tri\u1ec3n v\u00e0 th\u1eed nghi\u1ec7m c\u00e1c ph\u01b0\u01a1ng ph\u00e1p NBS m\u1edbi<\/h2>\n

Murdoch Children’s c\u0169ng h\u1ed7 tr\u1ee3 c\u00e1c nh\u00e0 nghi\u00ean c\u1ee9u t\u1eadp trung v\u00e0o vi\u1ec7c t\u1ea1o ra v\u00e0 \u0111\u00e1nh gi\u00e1 c\u00e1c ph\u01b0\u01a1ng th\u1ee9c NBS m\u1edbi. M\u1ed9t trong nh\u1eefng nh\u00e0 nghi\u00ean c\u1ee9u n\u00e0y l\u00e0 B\u00e1c s\u0129 David Godler, m\u1ed9t nh\u00e0 di truy\u1ec1n h\u1ecdc ph\u00e2n t\u1eed, ng\u01b0\u1eddi \u0111\u1ee9ng \u0111\u1ea7u Ph\u00f2ng x\u00e9t nghi\u1ec7m Ch\u1ea9n \u0111o\u00e1n v\u00e0 Ph\u00e1t tri\u1ec3n t\u1ea1i Murdoch Children’s. Godler hi\u1ec7n \u0111ang ph\u00e1t tri\u1ec3n m\u1ed9t ph\u01b0\u01a1ng ph\u00e1p ch\u1ea9n \u0111o\u00e1n chi ph\u00ed th\u1ea5p c\u00f3 t\u00ean g\u1ecdi l\u00e0 EpiGNs<\/strong>, k\u1ebft h\u1ee3p gi\u1eefa x\u00e9t nghi\u1ec7m metyl h\u00f3a ADN v\u00e0 quy tr\u00ecnh l\u00e0m vi\u1ec7c c\u1ee7a b\u1ed9 gen \u0111\u1ec3 m\u1edf r\u1ed9ng c\u00e1c nh\u00f3m NBS.<\/p>\n

Trong c\u00e1c nghi\u00ean c\u1ee9u tr\u01b0\u1edbc \u0111\u00e2y, EpiGNs \u0111\u00e3 cho th\u1ea5y ti\u1ec1m n\u0103ng l\u00e0 m\u1ed9t ph\u01b0\u01a1ng ph\u00e1p ti\u1ebft ki\u1ec7m chi ph\u00ed \u0111\u1ec3 m\u1edf r\u1ed9ng c\u00e1c nh\u00f3m NBS, bao g\u1ed3m nhi\u1ec1u b\u1ec7nh tr\u1ea1ng kh\u00e1c nhau, trong \u0111\u00f3 c\u00f3 h\u1ed9i ch\u1ee9ng Fragile X, Prader-Willi, Angelman v\u00e0 Dup15q [2]. N\u0103m 2022, Godler \u0111\u00e3 gi\u00e0nh \u0111\u01b0\u1ee3c kho\u1ea3n t\u00e0i tr\u1ee3 tr\u1ecb gi\u00e1 3 tri\u1ec7u \u0111\u00f4 la t\u1eeb Qu\u1ef9 T\u01b0\u01a1ng lai Nghi\u00ean c\u1ee9u Y khoa (MRFF) [3] v\u00e0 1,8 tri\u1ec7u \u0111\u00f4 la b\u1ed5 sung t\u1eeb T\u00e0i tr\u1ee3 \u00dd t\u01b0\u1edfng c\u1ee7a H\u1ed9i \u0111\u1ed3ng Nghi\u00ean c\u1ee9u Y t\u1ebf v\u00e0 Y t\u1ebf Qu\u1ed1c gia \u0111\u1ec3 ph\u00e1t tri\u1ec3n c\u00f4ng vi\u1ec7c n\u00e0y h\u01a1n n\u1eefa [4].<\/p>\n

\u0110\u1ed1i v\u1edbi c\u00e1c b\u01b0\u1edbc ti\u1ebfp theo, Godler d\u1ef1 \u0111\u1ecbnh s\u1eed d\u1ee5ng hai kho\u1ea3n t\u00e0i tr\u1ee3 n\u00e0y \u0111\u1ec3 ki\u1ec3m tra ph\u01b0\u01a1ng ph\u00e1p EpiGNs c\u1ee7a m\u00ecnh tr\u00ean m\u1ed9t nh\u00f3m s\u00e0ng l\u1ecdc m\u1edf r\u1ed9ng bao g\u1ed3m 8 b\u1ec7nh tr\u1ea1ng, t\u1ea1o th\u00eam d\u1eef li\u1ec7u v\u1ec1 hi\u1ec7u qu\u1ea3 chi ph\u00ed ti\u1ec1m n\u0103ng v\u00e0 ti\u1ec7n \u00edch l\u00e2m s\u00e0ng. M\u1ed9t s\u1ed1 nghi\u00ean c\u1ee9u n\u00e0y s\u1ebd t\u1eadn d\u1ee5ng ch\u01b0\u01a1ng tr\u00ecnh GenV, cho ph\u00e9p Godler \u0111\u00e1nh gi\u00e1 t\u00e1c \u0111\u1ed9ng c\u1ee7a vi\u1ec7c ph\u00e1t hi\u1ec7n s\u1edbm b\u1ec7nh di truy\u1ec1n \u0111\u1ed1i v\u1edbi c\u00e1c k\u1ebft qu\u1ea3 kinh t\u1ebf l\u00e2m s\u00e0ng v\u00e0 s\u1ee9c kh\u1ecfe d\u00e0i h\u1ea1n.<\/p>\n

\u0110\u00e1nh gi\u00e1 hi\u1ec7u qu\u1ea3 c\u1ee7a gi\u1ea3i tr\u00ecnh t\u1ef1 to\u00e0n b\u1ed9 b\u1ed9 gen (WGS)<\/h2>\n

M\u1ed9t nh\u00e0 nghi\u00ean c\u1ee9u kh\u00e1c \u0111\u01b0\u1ee3c MRFF t\u00e0i tr\u1ee3 t\u1ea1i Murdoch Children’s l\u00e0 B\u00e1c s\u0129 Seb Lunke, Tr\u01b0\u1edfng ph\u00f2ng Di truy\u1ec1n h\u1ecdc v\u00e0 Gen t\u1ea1i VCGS, n\u01a1i \u00f4ng \u0111i\u1ec1u h\u00e0nh m\u1ed9t trong nh\u1eefng ph\u00f2ng x\u00e9t nghi\u1ec7m di truy\u1ec1n h\u1ecdc l\u00e2m s\u00e0ng l\u1edbn nh\u1ea5t \u1edf \u00dac. N\u0103m ngo\u00e1i, B\u00e1c s\u0129 Lunke \u0111\u00e3 nh\u1eadn \u0111\u01b0\u1ee3c kho\u1ea3n t\u00e0i tr\u1ee3 3 tri\u1ec7u \u0111\u00f4 la \u00dac t\u1eeb MRFF \u0111\u1ec3 \u0111\u00e1nh gi\u00e1 vai tr\u00f2 c\u1ee7a vi\u1ec7c gi\u1ea3i tr\u00ecnh t\u1ef1 to\u00e0n b\u1ed9 b\u1ed9 gen (WGS) cho NBS.<\/p>\n

Trong giai \u0111o\u1ea1n \u0111\u1ea7u ti\u00ean c\u1ee7a d\u1ef1 \u00e1n n\u00e0y, c\u00f3 t\u00ean g\u1ecdi l\u00e0 BabyScreen+<\/strong>, Lunke s\u1ebd th\u1eed nghi\u1ec7m m\u1ed9t m\u00f4 h\u00ecnh WGS c\u1ee7a NBS tr\u00ean m\u1ed9t ngh\u00ecn em b\u00e9 \u1edf Victoria. M\u1eb7c d\u00f9 WGS cho ph\u00e9p s\u00e0ng l\u1ecdc h\u00e0ng ngh\u00ecn b\u1ec7nh tr\u1ea1ng ti\u1ec1m \u1ea9n, Lunke s\u1ebd b\u1eaft \u0111\u1ea7u v\u1edbi m\u1ed9t nh\u00f3m bao g\u1ed3m v\u00e0i tr\u0103m b\u1ec7nh tr\u1ea1ng \u0111\u01b0\u1ee3c x\u00e1c th\u1ef1c, c\u00f3 th\u1ec3 h\u00e0nh \u0111\u1ed9ng l\u00e2m s\u00e0ng v\u00e0 \u0111\u00e1p \u1ee9ng c\u00e1c ti\u00eau ch\u00ed \u0111\u1ea1o \u0111\u1ee9c sinh h\u1ecdc \u0111\u01b0\u1ee3c x\u00e1c \u0111\u1ecbnh tr\u01b0\u1edbc. M\u1ee5c ti\u00eau cu\u1ed1i c\u00f9ng l\u00e0 hi\u1ec3u r\u00f5 h\u01a1n v\u1ec1 c\u00e1ch s\u1eed d\u1ee5ng d\u1eef li\u1ec7u WGS c\u00f3 tr\u00e1ch nhi\u1ec7m khi sinh v\u00e0 trong th\u1eddi gian ch\u0103m s\u00f3c c\u1ea3 cu\u1ed9c \u0111\u1eddi.<\/p>\n

Lunke v\u00e0 c\u00e1c \u0111\u1ed3ng nghi\u1ec7p l\u01b0u \u00fd r\u1eb1ng WGS kh\u00f4ng ph\u1ea3i l\u00e0 m\u1ed9t \u201cvi\u00ean \u0111\u1ea1n b\u1ea1c\u201d \u0111\u1ec3 ph\u00e1t hi\u1ec7n b\u1ec7nh di truy\u1ec1n v\u00e0 c\u00f3 kh\u1ea3 n\u0103ng s\u1ebd kh\u00f4ng thay th\u1ebf c\u00e1c ph\u01b0\u01a1ng ph\u00e1p s\u00e0ng l\u1ecdc NBS truy\u1ec1n th\u1ed1ng trong th\u1eddi gian g\u1ea7n. Tr\u00ean th\u1ef1c t\u1ebf, vi\u1ec7c s\u1eed d\u1ee5ng c\u1ea3 hai ph\u01b0\u01a1ng ph\u00e1p song song cu\u1ed1i c\u00f9ng c\u00f3 th\u1ec3 gi\u00fap c\u00e1c ph\u00f2ng x\u00e9t nghi\u1ec7m NBS ph\u00e1t hi\u1ec7n \u0111\u01b0\u1ee3c m\u1ed9t lo\u1ea1t c\u00e1c b\u1ec7nh tr\u1ea1ng r\u1ed9ng h\u01a1n v\u1edbi \u0111\u1ed9 ch\u00ednh x\u00e1c cao h\u01a1n, theo nh\u1eadn x\u00e9t c\u1ee7a B\u00e1c s\u0129 David Amor, b\u00e1c s\u0129 di truy\u1ec1n h\u1ecdc l\u00e2m s\u00e0ng v\u00e0 tr\u01b0\u1edfng nh\u00f3m nghi\u00ean c\u1ee9u t\u1ea1i Murdoch Children\u2019s, \u00f4ng \u0111\u1ed3ng th\u1eddi nghi\u00ean c\u1ee9u trong c\u1ea3 hai d\u1ef1 \u00e1n EpiGNs v\u00e0 WGS.<\/p>\n

X\u00e2y d\u1ef1ng h\u1ec7 sinh th\u00e1i r\u1ed9ng h\u01a1n cho ch\u1ea9n \u0111o\u00e1n b\u1ec7nh hi\u1ebfm<\/h2>\n

Ngo\u00e0i NBS, Murdoch Children\u2019s v\u00e0 VCGS \u0111ang n\u1ed7 l\u1ef1c c\u1ea3i thi\u1ec7n h\u00e0ng lo\u1ea1t c\u00e1c ch\u1ea9n \u0111o\u00e1n b\u1ec7nh hi\u1ebfm g\u1eb7p, t\u1ea1o \u0111i\u1ec1u ki\u1ec7n ph\u00e1t hi\u1ec7n s\u1edbm v\u00e0 nhanh ch\u00f3ng c\u00e1c b\u1ec7nh di truy\u1ec1n. \u0110i\u1ec1u n\u00e0y bao g\u1ed3m c\u00f4ng vi\u1ec7c s\u00e0ng l\u1ecdc ng\u01b0\u1eddi mang gen b\u1ec7nh, x\u00e9t nghi\u1ec7m di truy\u1ec1n kh\u00f4ng x\u00e2m l\u1ea5n trong thai k\u1ef3, v\u00e0 di truy\u1ec1n h\u1ecdc ch\u0103m s\u00f3c c\u1ea5p c\u1ee9u (h\u1ecd l\u00e0 m\u1ed9t trong nh\u1eefng nh\u00e0 cung c\u1ea5p d\u1ecbch v\u1ee5 gi\u1ea3i tr\u00ecnh t\u1ef1 to\u00e0n b\u1ed9 gen nhanh nh\u1ea5t \u1edf khu v\u1ef1c Ch\u00e2u \u00c1 – Th\u00e1i B\u00ecnh D\u01b0\u01a1ng).<\/p>\n

Nh\u1eefng ti\u1ebfn b\u1ed9 trong c\u00e1c l\u0129nh v\u1ef1c n\u00e0y c\u00f3 th\u1ec3 \u0111\u1ecbnh h\u00ecnh t\u01b0\u01a1ng lai c\u1ee7a NBS v\u00e0 khi \u00dac ti\u1ebfp t\u1ee5c th\u00fac \u0111\u1ea9y nghi\u00ean c\u1ee9u v\u00e0 \u0111\u1ed5i m\u1edbi trong l\u0129nh v\u1ef1c th\u00fa v\u1ecb n\u00e0y, Murdoch Children\u2019s v\u00e0 VCGS s\u1ebd l\u00e0 n\u01a1i \u0111\u1ec3 quan s\u00e1t.<\/p>\n

\u0110\u00e2y l\u00e0 b\u00e0i vi\u1ebft c\u1ee7a Will Greene, Qu\u1ea3n l\u00fd H\u1ee3p t\u00e1c Y t\u1ebf t\u1ea1i Roche Diagnostics Ch\u00e2u \u00c1 \u2014 Th\u00e1i B\u00ecnh D\u01b0\u01a1ng v\u00e0 \u0111\u1ed3ng tr\u01b0\u1edfng nh\u00f3m D\u1ef1 \u00e1n Strongbow, m\u1ed9t s\u00e1ng ki\u1ebfn nh\u1eb1m th\u00fac \u0111\u1ea9y c\u00e1c ph\u01b0\u01a1ng ph\u00e1p t\u1ed1t nh\u1ea5t trong NBS th\u00f4ng qua n\u1ed9i dung gi\u00e1o d\u1ee5c v\u00e0 x\u00e2y d\u1ef1ng c\u1ed9ng \u0111\u1ed3ng. C\u00e1c b\u00e0i vi\u1ebft v\u00e0 video kh\u00e1c \u0111\u01b0\u1ee3c s\u1ea3n xu\u1ea5t trong khu\u00f4n kh\u1ed5 d\u1ef1 \u00e1n n\u00e0y c\u00f3 tr\u00ean trang S\u00e0ng l\u1ecdc tr\u1ebb s\u01a1 sinh c\u1ee7a ch\u00fang t\u00f4i.\u00a0<\/a><\/em><\/p>\n

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

[1] <\/a>Generation Victoria. Truy\u00a0c\u1eadp: https:\/\/www.genv.org.au\/<\/p>\n

[2]<\/a> Should newborn screening include chromosome 15q disorders? Lab Insights.<\/em> Truy c\u1eadp: https:\/\/labinsights.com\/disease-area\/newborn-screening\/should-newborn-screening-include-chromosome-15q-disorders\/<\/p>\n

[3] <\/a>Federal funding for genomics projects aiming to improve child health (Sept 2022).\u00a0Murdoch Children’s Research Institute.<\/em> Truy c\u1eadp: https:\/\/www.mcri.edu.au\/news-stories\/federal-funding-for-genomics-projects-aiming-to-improve-child-health<\/p>\n

[4] <\/a>Federal grants to advance earlier diagnosis and treatments for childhood conditions (Dec 2022).\u00a0Murdoch Children’s Research Institute.<\/em> https:\/\/www.mcri.edu.au\/news-stories\/federal-grants-advance-diagnosis-treatments-childhood-conditions<\/p>\n","protected":false},"excerpt":{"rendered":"

Khi ng\u00e0y c\u00e0ng c\u00f3 nhi\u1ec1u m\u1ed1i quan t\u00e2m v\u00e0 \u0111\u1ea7u t\u01b0 v\u00e0o s\u00e0ng l\u1ecdc m\u1eabu m\u00e1u tr\u1ebb s\u01a1 sinh (NBS) tr\u00ean to\u00e0n n\u01b0\u1edbc \u00dac, Vi\u1ec7n Nghi\u00ean c\u1ee9u Tr\u1ebb em Murdoch \u1edf Melbourne \u0111ang ng\u00e0y c\u00e0ng tr\u1edf th\u00e0nh m\u1ed9t trung t\u00e2m quan tr\u1ecdng v\u1ec1 nghi\u00ean c\u1ee9u v\u00e0 \u0111\u1ed5i m\u1edbi trong l\u0129nh v\u1ef1c NBS c\u1ee7a qu\u1ed1c gia. […]<\/p>\n","protected":false},"author":1,"featured_media":85666,"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":[14828,14829,14915],"pillarandcategory":[294,282,293],"reporter":[14833],"class_list":["post-147163","acf_article","type-acf_article","status-publish","has-post-thumbnail","hentry","tag-benh-hiem","tag-sang-loc-tre-so-sinh","tag-uc","pillarandcategory-rare-diseases","pillarandcategory-disease-area","pillarandcategory-newborn-screening","reporter-will-greene"],"acf":[],"_links":{"self":[{"href":"https:\/\/labinsights.com\/vi\/wp-json\/wp\/v2\/acf_article\/147163","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":3,"href":"https:\/\/labinsights.com\/vi\/wp-json\/wp\/v2\/acf_article\/147163\/revisions"}],"predecessor-version":[{"id":149088,"href":"https:\/\/labinsights.com\/vi\/wp-json\/wp\/v2\/acf_article\/147163\/revisions\/149088"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/labinsights.com\/vi\/wp-json\/wp\/v2\/media\/85666"}],"wp:attachment":[{"href":"https:\/\/labinsights.com\/vi\/wp-json\/wp\/v2\/media?parent=147163"}],"wp:term":[{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/labinsights.com\/vi\/wp-json\/wp\/v2\/tags?post=147163"},{"taxonomy":"pillarandcategory","embeddable":true,"href":"https:\/\/labinsights.com\/vi\/wp-json\/wp\/v2\/pillarandcategory?post=147163"},{"taxonomy":"reporter","embeddable":true,"href":"https:\/\/labinsights.com\/vi\/wp-json\/wp\/v2\/reporter?post=147163"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}