{"id":147169,"date":"2022-04-07T01:48:23","date_gmt":"2022-04-07T01:48:23","guid":{"rendered":"https:\/\/labinsights.com\/acf_article\/sang-loc-cho-tre-so-sinh-co-nen-bao-gom-cac-tinh-trang-roi-loan-nhiem-sac-the-15q-khong\/"},"modified":"2026-01-27T07:13:58","modified_gmt":"2026-01-27T07:13:58","slug":"should-newborn-screening-include-chromosome-15q-disorders","status":"publish","type":"acf_article","link":"https:\/\/labinsights.com\/vi\/disease-area\/newborn-screening\/should-newborn-screening-include-chromosome-15q-disorders\/","title":{"rendered":"S\u00e0ng l\u1ecdc cho tr\u1ebb s\u01a1 sinh c\u00f3 n\u00ean bao g\u1ed3m c\u00e1c t\u00ecnh tr\u1ea1ng r\u1ed1i lo\u1ea1n nhi\u1ec5m s\u1eafc th\u1ec3 15q kh\u00f4ng?"},"content":{"rendered":"

V\u1edbi s\u1ef1 ra \u0111\u1eddi c\u1ee7a c\u00e1c ph\u01b0\u01a1ng ph\u00e1p chi ph\u00ed th\u1ea5p \u0111\u1ec3 x\u00e9t nghi\u1ec7m ba t\u00ecnh tr\u1ea1ng r\u1ed1i lo\u1ea1n nhi\u1ec5m s\u1eafc th\u1ec3 15q ph\u1ed5 bi\u1ebfn \u2013 h\u1ed9i ch\u1ee9ng Prader-Willi (PWS), h\u1ed9i ch\u1ee9ng Angelman v\u00e0 Dup15q, c\u00e1c nh\u00e0 nghi\u00ean c\u1ee9u \u1edf m\u1ed9t s\u1ed1 qu\u1ed1c gia hi\u1ec7n \u0111ang \u0111\u00e1nh gi\u00e1 vi\u1ec7c s\u1eed d\u1ee5ng ph\u01b0\u01a1ng ph\u00e1p n\u00e0y trong c\u00e1c panel s\u00e0ng l\u1ecdc cho tr\u1ebb s\u01a1 sinh (NBS). Nhi\u1ec1u nghi\u00ean c\u1ee9u hi\u1ec7n \u0111ang \u0111\u01b0\u1ee3c ti\u1ebfn h\u00e0nh nh\u1eb1m cung c\u1ea5p d\u1eef li\u1ec7u v\u1ec1 t\u00ednh th\u1ef1c ti\u1ec5n, gi\u00e1 tr\u1ecb \u1ee9ng d\u1ee5ng l\u00e2m s\u00e0ng v\u00e0 hi\u1ec7u qu\u1ea3 chi ph\u00ed c\u1ee7a ph\u01b0\u01a1ng ph\u00e1p ti\u1ebfp c\u1eadn n\u00e0y.<\/p>\n

T\u1ea1i Hoa K\u1ef3 v\u00e0 Ch\u00e2u \u00c2u, c\u0169ng nh\u01b0 c\u00e1c qu\u1ed1c gia c\u00f3 nhi\u1ec1u ngu\u1ed3n l\u1ef1c t\u1ea1i Ch\u00e2u \u00c1 \u2013 Th\u00e1i B\u00ecnh D\u01b0\u01a1ng nh\u01b0 \u00dac v\u00e0 Singapore, h\u1ea7u nh\u01b0 t\u1ea5t c\u1ea3 tr\u1ebb s\u01a1 sinh \u0111\u1ec1u \u0111\u01b0\u1ee3c tr\u1ea3i qua NBS nh\u01b0 m\u1ed9t ph\u1ea7n c\u1ee7a c\u00e1c ch\u01b0\u01a1ng tr\u00ecnh do nh\u00e0 n\u01b0\u1edbc t\u00e0i tr\u1ee3. Panel ti\u00eau chu\u1ea9n, \u0111\u01b0\u1ee3c ti\u1ebfn h\u00e0nh tr\u00ean c\u00e1c \u0111\u1ed1m m\u00e1u kh\u00f4 thu th\u1eadp trong tu\u1ea7n \u0111\u1ea7u ti\u00ean sau khi ch\u00e0o \u0111\u1eddi c\u1ee7a tr\u1ebb s\u01a1 sinh, th\u01b0\u1eddng bao g\u1ed3m h\u01a1n 25 t\u00ecnh tr\u1ea1ng, ph\u1ea7n l\u1edbn l\u00e0 c\u00e1c khi\u1ebfm khuy\u1ebft b\u1ea9m sinh v\u1ec1 qu\u00e1 tr\u00ecnh trao \u0111\u1ed5i ch\u1ea5t. Trong nh\u1eefng n\u0103m g\u1ea7n \u0111\u00e2y, m\u1ed9t s\u1ed1 qu\u1ed1c gia \u0111\u00e3 m\u1edf r\u1ed9ng panel c\u1ee7a m\u00ecnh \u0111\u1ec3 bao g\u1ed3m c\u00e1c b\u1ec7nh hi\u1ebfm g\u1eb7p kh\u00e1c nh\u01b0 x\u01a1 nang, b\u1ec7nh tim b\u1ea9m sinh, b\u1ec7nh Pompe v\u00e0 teo c\u01a1 t\u1ee7y s\u1ed1ng (SMA).<\/p>\n

Gi\u1ed1ng nh\u01b0 c\u00e1c t\u00ecnh tr\u1ea1ng kh\u00e1c \u0111\u01b0\u1ee3c x\u00e9t nghi\u1ec7m th\u01b0\u1eddng quy trong panel NBS, r\u1ed1i lo\u1ea1n 15q c\u00f3 th\u1ec3 l\u00e0m h\u1ea1n ch\u1ebf th\u1eddi gian s\u1ed1ng, c\u00f3 kh\u1ea3 n\u0103ng \u0111e d\u1ecda t\u00ednh m\u1ea1ng v\u00e0 \u0111\u00f4i khi kh\u00f3 ph\u00e1t hi\u1ec7n s\u1edbm th\u00f4ng qua c\u00e1c x\u00e9t nghi\u1ec7m l\u00e2m s\u00e0ng. M\u1eb7c d\u00f9 n\u1ebfu x\u00e9t ri\u00eang th\u00ec nh\u1eefng b\u1ec7nh n\u00e0y c\u00f3 th\u1ec3 hi\u1ebfm g\u1eb7p nh\u01b0ng ch\u00fang v\u1eabn ph\u1ed5 bi\u1ebfn h\u01a1n m\u1ed9t s\u1ed1 b\u1ec7nh c\u1ef1c hi\u1ebfm \u0111\u00e3 c\u00f3 trong panel NBS ti\u00eau chu\u1ea9n.<\/p>\n

M\u1ed9t ph\u01b0\u01a1ng ph\u00e1p m\u1edbi gi\u00fap vi\u1ec7c th\u1ef1c hi\u1ec7n NBS th\u01b0\u1eddng quy cho c\u00e1c r\u1ed1i lo\u1ea1n 15q tr\u1edf n\u00ean kh\u1ea3 thi<\/h2>\n

Cho \u0111\u1ebfn g\u1ea7n \u0111\u00e2y, c\u00e1c r\u1ed1i lo\u1ea1n 15q th\u01b0\u1eddng \u0111\u01b0\u1ee3c ph\u00e1t hi\u1ec7n trong nh\u1eefng tu\u1ea7n ho\u1eb7c th\u00e1ng \u0111\u1ea7u \u0111\u1eddi d\u1ef1a tr\u00ean c\u00e1c tri\u1ec7u ch\u1ee9ng l\u00e2m s\u00e0ng bao g\u1ed3m gi\u1ea3m tr\u01b0\u01a1ng l\u1ef1c c\u01a1 (hay c\u01a1 y\u1ebfu v\u00e0 \u201cm\u1ec1m\u201d c\u01a1), kh\u00f3 kh\u0103n khi \u0103n v\u00e0 c\u00e1c t\u00ecnh tr\u1ea1ng ch\u1eadm ph\u00e1t tri\u1ec3n kh\u00e1c. C\u00e1c b\u00e1c s\u0129 l\u00e2m s\u00e0ng nh\u1eadn th\u1ea5y nh\u1eefng tri\u1ec7u ch\u1ee9ng n\u00e0y v\u00e0 hi\u1ec3u \u0111\u01b0\u1ee3c t\u1ea7m quan tr\u1ecdng ti\u1ec1m \u1ea9n c\u1ee7a ch\u00fang th\u01b0\u1eddng s\u1ebd ch\u1ec9 \u0111\u1ecbnh x\u00e9t nghi\u1ec7m methyl h\u00f3a DNA \u0111\u1ec3 x\u00e1c \u0111\u1ecbnh nguy\u00ean nh\u00e2n.<\/p>\n

V\u1ea5n \u0111\u1ec1 v\u1edbi c\u00e1c ph\u01b0\u01a1ng ph\u00e1p x\u00e9t nghi\u1ec7m methyl h\u00f3a DNA ti\u00eau chu\u1ea9n cho c\u00e1c r\u1ed1i lo\u1ea1n 15q l\u00e0 ch\u00fang c\u00f3 th\u1ec3 t\u1ed1n k\u00e9m v\u00e0 \u0111\u00f2i h\u1ecfi chuy\u00ean m\u00f4n \u0111\u1eb7c bi\u1ec7t m\u00e0 c\u00f3 th\u1ec3 kh\u00f4ng c\u00f3 s\u1eb5n b\u00ean ngo\u00e0i c\u00e1c trung t\u00e2m xu\u1ea5t s\u1eafc \u0111\u01b0\u1ee3c ch\u1ec9 \u0111\u1ecbnh. C\u00e1c ph\u01b0\u01a1ng ph\u00e1p n\u00e0y c\u0169ng kh\u00f4ng ph\u1ea3i lu\u00f4n lu\u00f4n hi\u1ec7u qu\u1ea3 khi x\u00e9t nghi\u1ec7m tr\u00ean gi\u1ea5y th\u1ea5m \u0111\u1ed1m m\u00e1u h\u1ea1n ch\u1ebf c\u1ee7a tr\u1ebb s\u01a1 sinh, do \u0111\u00f3 c\u1ea7n ph\u1ea3i l\u1ea5y th\u00eam m\u00e1u. Cu\u1ed1i c\u00f9ng, n\u1ebfu kh\u00f4ng s\u00e0ng l\u1ecdc th\u01b0\u1eddng quy, c\u00e1c b\u00e1c s\u0129 l\u00e2m s\u00e0ng v\u00e0 cha m\u1eb9 c\u00f3 th\u1ec3 kh\u00f4ng nh\u1eadn th\u1ea5y c\u00e1c d\u1ea5u hi\u1ec7u c\u1ea3nh b\u00e1o v\u00e0 do \u0111\u00f3 b\u1ecf l\u1ee1 c\u01a1 h\u1ed9i can thi\u1ec7p s\u1edbm.<\/p>\n

Bs. Theresa Strong, Gi\u00e1m \u0111\u1ed1c Nghi\u00ean c\u1ee9u t\u1ea1i Foundation for Prader-Willi Research (FPWR), m\u1ed9t nh\u00f3m nghi\u00ean c\u1ee9u v\u00e0 b\u1ea3o v\u1ec7 quy\u1ec1n l\u1ee3i, cho bi\u1ebft: \u201cD\u1eef li\u1ec7u t\u1eeb H\u1ec7 th\u1ed1ng \u0111\u0103ng k\u00fd to\u00e0n c\u1ea7u v\u1ec1 PWS cho th\u1ea5y kho\u1ea3ng 20% c\u00e1c ca PWS \u1edf Hoa K\u1ef3 kh\u00f4ng \u0111\u01b0\u1ee3c ph\u00e1t hi\u1ec7n s\u1edbm\u201d.<\/p>\n

M\u1ed9t x\u00e9t nghi\u1ec7m methyl h\u00f3a m\u1edbi, chi ph\u00ed th\u1ea5p do Bs. David Godler, nh\u00e0 di truy\u1ec1n h\u1ecdc ph\u00e2n t\u1eed \u0111\u1ee9ng \u0111\u1ea7u Diagnosis and Development Laboratory t\u1ea1i Murdoch Children\u2019s Research Institute (MCRI) \u1edf \u00dac, ph\u00e1t tri\u1ec3n c\u00f3 ti\u1ec1m n\u0103ng gi\u1ea3i quy\u1ebft nh\u1eefng th\u00e1ch th\u1ee9c n\u00e0y. \u0110\u01b0\u1ee3c g\u1ecdi l\u00e0 Ph\u00e2n t\u00edch tan ch\u1ea3y \u0111\u1ecbnh l\u01b0\u1ee3ng \u0111\u1eb7c hi\u1ec7u methyl h\u00f3a (MS-QMA), ban \u0111\u1ea7u ph\u01b0\u01a1ng ph\u00e1p n\u00e0y \u0111\u01b0\u1ee3c \u00e1p d\u1ee5ng cho h\u1ed9i ch\u1ee9ng g\u00e3y nhi\u1ec5m s\u1eafc th\u1ec3 X, nh\u01b0ng \u0111\u00e3 \u0111\u01b0\u1ee3c s\u1eeda \u0111\u1ed5i v\u00e0o n\u0103m 2016 \u0111\u1ec3 bao g\u1ed3m ba r\u1ed1i lo\u1ea1n 15q ch\u00ednh.<\/p>\n

V\u00e0o th\u00e1ng 1 n\u0103m nay, Bs. Godler v\u00e0 c\u00e1c \u0111\u1ed3ng nghi\u1ec7p \u0111\u00e3 c\u00f4ng b\u1ed1 k\u1ebft qu\u1ea3 c\u1ee7a m\u1ed9t nghi\u00ean c\u1ee9u v\u1ec1 t\u00ednh hi\u1ec7u l\u1ef1c nhi\u1ec1u n\u0103m tr\u00ean JAMA Network Open [1]. S\u1eed d\u1ee5ng gi\u1ea5y th\u1ea5m m\u1eabu t\u1eeb 109 m\u1eabu b\u1ec7nh nh\u00e2n PWS, 48 m\u1eabu b\u1ec7nh nh\u00e2n m\u1eafc h\u1ed9i ch\u1ee9ng Angelman v\u00e0 9 m\u1eabu b\u1ec7nh nh\u00e2n c\u00f3 Dup15q, nghi\u00ean c\u1ee9u \u0111\u00e3 ch\u1ee9ng minh t\u00ednh kh\u1ea3 thi c\u1ee7a vi\u1ec7c s\u1eed d\u1ee5ng ph\u01b0\u01a1ng ph\u00e1p MS-QMA v\u00e0 quy tr\u00ecnh l\u00e0m vi\u1ec7c x\u00e1c nh\u1eadn cho NBS th\u01b0\u1eddng quy \u0111\u1ed1i v\u1edbi c\u00e1c r\u1ed1i lo\u1ea1n 15q tr\u00ean kho\u1ea3ng 17.000 tr\u1ebb s\u01a1 sinh trong d\u00e2n s\u1ed1 chung. Nghi\u00ean c\u1ee9u c\u0169ng ch\u1ec9 ra r\u1eb1ng chi ph\u00ed v\u00e0 hi\u1ec7u su\u1ea5t c\u1ee7a x\u00e9t nghi\u1ec7m c\u0169ng nh\u01b0 quy tr\u00ecnh x\u00e1c nh\u1eadn g\u1ea7n nh\u01b0 t\u01b0\u01a1ng \u0111\u01b0\u01a1ng v\u1edbi c\u00e1c t\u00ecnh tr\u1ea1ng kh\u00e1c c\u00f3 trong ch\u01b0\u01a1ng tr\u00ecnh NBS.<\/p>\n

Hi\u1ec7n nay, trong m\u1ed9t nghi\u00ean c\u1ee9u m\u1edbi do RTI International t\u1ea1i Hoa K\u1ef3 d\u1eabn \u0111\u1ea7u, ph\u01b0\u01a1ng ph\u00e1p ti\u1ebfp c\u1eadn MS-QMA \u0111\u1ec3 ph\u00e1t hi\u1ec7n b\u1ec7nh 15q \u0111ang \u0111\u01b0\u1ee3c \u0111\u00e1nh gi\u00e1 th\u00f4ng qua Early Check [2], m\u1ed9t ch\u01b0\u01a1ng tr\u00ecnh cung c\u1ea5p d\u1ecbch v\u1ee5 NBS mi\u1ec5n ph\u00ed nh\u1eb1m thu th\u1eadp b\u1eb1ng ch\u1ee9ng v\u1ec1 c\u00e1c x\u00e9t nghi\u1ec7m m\u1edbi. C\u00f3 tr\u1ee5 s\u1edf t\u1ea1i ti\u1ec3u bang B\u1eafc Carolina, ch\u01b0\u01a1ng tr\u00ecnh tr\u01b0\u1edbc \u0111\u00e2y \u0111\u00e3 ti\u1ebfn h\u00e0nh \u0111\u00e1nh gi\u00e1 v\u1ec1 x\u00e9t nghi\u1ec7m h\u1ed9i ch\u1ee9ng g\u00e3y nhi\u1ec5m s\u1eafc th\u1ec3 X v\u00e0 SMA, v\u00e0 hi\u1ec7n \u0111ang nghi\u00ean c\u1ee9u x\u00e9t nghi\u1ec7m ch\u1ee9ng lo\u1ea1n d\u01b0\u1ee1ng c\u01a1.<\/p>\n

Theo Bs. Godler, vi\u1ec7c l\u1eadp k\u1ebf ho\u1ea1ch cho c\u00e1c nghi\u00ean c\u1ee9u quy m\u00f4 d\u00e2n s\u1ed1 c\u0169ng \u0111ang \u0111\u01b0\u1ee3c ti\u1ebfn h\u00e0nh t\u1ea1i \u00dac \u0111\u1ec3 ki\u1ec3m tra gi\u00e1 tr\u1ecb \u1ee9ng d\u1ee5ng l\u00e2m s\u00e0ng v\u00e0 l\u1ee3i \u00edch kinh t\u1ebf c\u1ee7a MS-QMA c\u0169ng nh\u01b0 quy tr\u00ecnh x\u00e1c nh\u1eadn tr\u00ean b\u1ed9 gen nh\u01b0 m\u1ed9t ph\u1ea7n c\u1ee7a ph\u01b0\u01a1ng ph\u00e1p ti\u1ebfp c\u1eadn s\u00e0ng l\u1ecdc cho tr\u1ebb s\u01a1 sinh m\u1edf r\u1ed9ng.<\/p>\n

C\u00f3 nh\u1eefng c\u01a1 h\u1ed9i v\u00e0 th\u00e1ch th\u1ee9c g\u00ec?<\/h2>\n

B\u1eb1ng c\u00e1ch x\u00e1c \u0111\u1ecbnh s\u1ef1 hi\u1ec7n di\u1ec7n c\u1ee7a c\u00e1c r\u1ed1i lo\u1ea1n tr\u01b0\u1edbc khi c\u00e1c d\u1ea5u hi\u1ec7u v\u00e0 tri\u1ec7u ch\u1ee9ng tr\u1edf n\u00ean r\u00f5 r\u00e0ng, c\u00e1c ch\u01b0\u01a1ng tr\u00ecnh NBS gi\u00fap can thi\u1ec7p s\u1edbm, d\u1eabn \u0111\u1ebfn kh\u1ea3 n\u0103ng c\u00f3 th\u1ec3 c\u1ee9u m\u1ea1ng s\u1ed1ng v\u00e0 c\u1ea3i thi\u1ec7n k\u1ebft qu\u1ea3 l\u00e2m s\u00e0ng \u0111\u00e1ng k\u1ec3. Tuy nhi\u00ean, do chi ph\u00ed v\u00e0 th\u00e1ch th\u1ee9c khi tri\u1ec3n khai c\u00e1c x\u00e9t nghi\u1ec7m NBS tr\u00ean quy m\u00f4 l\u1edbn, c\u0169ng nh\u01b0 s\u1ef1 s\u1eb5n c\u00f3 c\u1ee7a c\u00e1c ph\u01b0\u01a1ng ph\u00e1p ti\u1ebfp c\u1eadn thay th\u1ebf ti\u1ec1m n\u0103ng cho vi\u1ec7c s\u00e0ng l\u1ecdc, n\u00ean c\u00f3 r\u1ea5t \u00edt t\u00ecnh tr\u1ea1ng b\u1ec7nh cu\u1ed1i c\u00f9ng \u0111\u01b0\u1ee3c \u0111\u01b0a v\u00e0o c\u00e1c panel do nh\u00e0 n\u01b0\u1edbc t\u00e0i tr\u1ee3.<\/p>\n

Trong h\u1ed9i ngh\u1ecb th\u01b0\u1ee3ng \u0111\u1ec9nh g\u1ea7n \u0111\u00e2y v\u1ec1 NBS t\u1ea1i International Prader Willi Syndrome Organisation (IPWSO), Bs. Daniel Driscoll, Gi\u00e1o s\u01b0 t\u1ea1i Khoa Di truy\u1ec1n v\u00e0 Trao \u0111\u1ed5i ch\u1ea5t \u1edf Tr\u1ebb em t\u1ea1i University of Florida, cho bi\u1ebft c\u00e1c x\u00e9t nghi\u1ec7m m\u1edbi ch\u1ec9 \u0111\u01b0\u1ee3c th\u00eam v\u00e0o c\u00e1c panel do nh\u00e0 n\u01b0\u1edbc t\u00e0i tr\u1ee3 n\u1ebfu c\u00f3 l\u00fd do ch\u00ednh \u0111\u00e1ng \u0111\u1ec3 l\u00e0m nh\u01b0 v\u1eady [3]. Ri\u00eang \u0111\u1ed1i v\u1edbi PWS, \u00f4ng l\u01b0u \u00fd r\u1eb1ng s\u1ef1 hi\u1ec7n di\u1ec7n c\u1ee7a c\u00e1c d\u1ea5u hi\u1ec7u l\u00e2m s\u00e0ng r\u00f5 r\u00e0ng \u1edf nhi\u1ec1u b\u1ec7nh nh\u00e2n c\u00f3 th\u1ec3 lo\u1ea1i tr\u1eeb nhu c\u1ea7u c\u1ea7n th\u1ef1c hi\u1ec7n NBS th\u01b0\u1eddng quy v\u00e0 ngay c\u1ea3 khi c\u00f3 th\u1ec3 \u00e1p d\u1ee5ng cho b\u1ec7nh 15q kh\u00e1c th\u00ec c\u0169ng ph\u1ea3i m\u1ea5t nhi\u1ec1u n\u0103m \u0111\u1ec3 c\u00e1c h\u01b0\u1edbng d\u1eabn thay \u0111\u1ed5i.<\/p>\n

T\u1ea1i h\u1ed9i ngh\u1ecb th\u01b0\u1ee3ng \u0111\u1ec9nh n\u00e0y, Bs. Godler ch\u1ec9 ra r\u1eb1ng nhi\u1ec1u ca PWS v\u1eabn b\u1ecb b\u1ecf s\u00f3t, \u0111\u1eb7c bi\u1ec7t l\u00e0 \u1edf nh\u1eefng n\u01a1i c\u00f3 ngu\u1ed3n l\u1ef1c h\u1ea1n ch\u1ebf, n\u01a1i nh\u00e2n vi\u00ean y t\u1ebf c\u00f3 th\u1ec3 kh\u00f4ng bi\u1ebft v\u1ec1 c\u00e1c b\u1ec7nh 15q ho\u1eb7c kh\u00f4ng c\u00f3 c\u00f4ng c\u1ee5 \u0111\u1ec3 x\u00e9t nghi\u1ec7m c\u00e1c b\u1ec7nh n\u00e0y [4]. V\u00ec can thi\u1ec7p s\u1edbm b\u1eb1ng li\u1ec7u ph\u00e1p ho\u00f3c-m\u00f4n t\u0103ng tr\u01b0\u1edfng v\u00e0 c\u00e1c li\u1ec7u ph\u00e1p h\u00e0nh vi kh\u00e1c nhau c\u00f3 th\u1ec3 t\u1ea1o ra s\u1ef1 kh\u00e1c bi\u1ec7t l\u1edbn trong k\u1ebft qu\u1ea3 l\u00e2m s\u00e0ng \u0111\u1ed1i v\u1edbi PWS n\u00ean vi\u1ec7c ch\u1ea9n \u0111o\u00e1n mu\u1ed9n ho\u1eb7c b\u1ecf s\u00f3t ch\u1ea9n \u0111o\u00e1n c\u00f3 th\u1ec3 d\u1eabn \u0111\u1ebfn k\u1ebft qu\u1ea3 kh\u00f4ng t\u1ed1i \u01b0u v\u00e0 \u0111\u00f4i khi l\u00e0 k\u1ebft qu\u1ea3 bi th\u1ea3m.<\/p>\n

Nh\u1eefng tr\u01b0\u1eddng h\u1ee3p b\u1ecb b\u1ecf s\u00f3t n\u00e0y c\u00f3 th\u1ec3 d\u1eabn \u0111\u1ebfn \u01b0\u1edbc t\u00ednh sai l\u1ec7ch v\u1ec1 t\u1ef7 l\u1ec7 hi\u1ec7n m\u1eafc c\u1ee7a b\u1ec7nh 15q trong d\u00e2n s\u1ed1, d\u1eabn \u0111\u1ebfn kh\u1ea3 n\u0103ng \u0111\u00e1nh gi\u00e1 th\u1ea5p v\u1ea5n \u0111\u1ec1 v\u00e0 ph\u00e2n b\u1ed5 sai ngu\u1ed3n l\u1ef1c t\u1eeb h\u1ec7 th\u1ed1ng ch\u0103m s\u00f3c s\u1ee9c kh\u1ecfe. Bs. Godler cho bi\u1ebft: \u201c\u01af\u1edbc t\u00ednh v\u1ec1 t\u1ef7 l\u1ec7 hi\u1ec7n m\u1eafc kh\u00f4ng th\u1ed1ng nh\u1ea5t. \u201dDo \u0111\u1ed9 tu\u1ed5i ng\u01b0\u1eddi m\u1eb9 thay \u0111\u1ed5i \u1edf nhi\u1ec1u qu\u1ed1c gia, ch\u00fang ta c\u0169ng c\u00f3 th\u1ec3 th\u1ea5y nh\u1eefng thay \u0111\u1ed5i v\u1ec1 t\u1ef7 l\u1ec7 hi\u1ec7n m\u1eafc c\u00f3 th\u1ec3 t\u00e1c \u0111\u1ed9ng \u0111\u1ebfn c\u00e1c con s\u1ed1.\u201d<\/p>\n

Bs. Godler cho bi\u1ebft th\u00eam: \u201cCh\u00fang t\u00f4i c\u0169ng nh\u1eadn th\u1ea5y r\u1eb1ng t\u1ef7 l\u1ec7 tr\u1ebb em m\u1eafc PWS do l\u01b0\u1ee1ng b\u1ed9i \u0111\u1ed3ng ngu\u1ed3n [m\u1ed9t ph\u00e2n nh\u00f3m c\u1ee7a PWS] hi\u1ec7n ch\u1ec9 c\u00f2n kho\u1ea3ng m\u1ed9t n\u1eeda so v\u1edbi 10 n\u0103m tr\u01b0\u1edbc khi t\u1ef7 l\u1ec7 n\u00e0y l\u00e0 kho\u1ea3ng 30%.\u201d \u201c\u0110i\u1ec1u n\u00e0y c\u00f3 ngh\u0129a l\u00e0 x\u00e9t nghi\u1ec7m b\u1ed9 gen thay th\u1ebf nh\u01b0 NIPT ph\u1ea7n l\u1edbn ch\u1ec9 gi\u1edbi h\u1ea1n trong vi\u1ec7c x\u00e1c \u0111\u1ecbnh c\u00e1c \u0111\u1ed9t bi\u1ebfn x\u00f3a gen g\u00e2y ra PWS v\u00e0 AS, v\u00e0 s\u1ebd b\u1ecf s\u00f3t m\u1ed9t s\u1ed1 l\u01b0\u1ee3ng \u0111\u00e1ng k\u1ec3 nh\u1eefng c\u00e1 nh\u00e2n b\u1ecb \u1ea3nh h\u01b0\u1edfng m\u00e0 \u0111\u00e1ng l\u1ebd c\u00f3 th\u1ec3 x\u00e1c \u0111\u1ecbnh \u0111\u01b0\u1ee3c th\u00f4ng qua x\u00e9t nghi\u1ec7m methyl h\u00f3a.\u201d<\/p>\n

M\u1ed9t s\u1ed1 ng\u01b0\u1eddi tham d\u1ef1 h\u1ed9i ngh\u1ecb th\u01b0\u1ee3ng \u0111\u1ec9nh b\u00e0y t\u1ecf lo ng\u1ea1i v\u1ec1 k\u1ebft qu\u1ea3 d\u01b0\u01a1ng t\u00ednh gi\u1ea3 v\u00e0 nh\u1eefng n\u1ed7i \u0111au kh\u1ed5 kh\u00f4ng \u0111\u00e1ng c\u00f3 m\u00e0 c\u00e1c b\u1eadc cha m\u1eb9 c\u00f3 th\u1ec3 ph\u1ea3i tr\u1ea3i qua. Th\u1eadt v\u1eady, tr\u1ecb s\u1ed1 ti\u00ean \u0111o\u00e1n d\u01b0\u01a1ng t\u00ednh (PPV) \u0111\u1ed1i v\u1edbi x\u00e9t nghi\u1ec7m MS-QMA b\u1eadc m\u1ed9t \u0111\u01b0\u1ee3c \u0111o l\u01b0\u1eddng \u1edf m\u1ee9c 67% \u0111\u1ed1i v\u1edbi Angelman, 33% \u0111\u1ed1i v\u1edbi PWS v\u00e0 44% \u0111\u1ed1i v\u1edbi vi\u1ec7c ph\u00e1t hi\u1ec7n k\u1ebft h\u1ee3p c\u00e1c r\u1ed1i lo\u1ea1n in d\u1ea5u nhi\u1ec5m s\u1eafc th\u1ec3 15.<\/p>\n

Tuy nhi\u00ean, Bs. Godler nh\u1ea5n m\u1ea1nh r\u1eb1ng PPV tuy\u1ec7t \u0111\u1ed1i th\u1ef1c ra g\u1ea7n b\u1eb1ng 100% n\u1ebfu b\u1ea1n t\u00ednh \u0111\u1ebfn to\u00e0n b\u1ed9 quy tr\u00ecnh l\u00e0m vi\u1ec7c, bao g\u1ed3m x\u00e9t nghi\u1ec7m x\u00e1c nh\u1eadn tr\u00ean b\u1ed9 gen v\u00e0 methyl h\u00f3a c\u00f3 th\u1ec3 \u0111\u01b0\u1ee3c th\u1ef1c hi\u1ec7n tr\u00ean l\u1ea7n ch\u00edch m\u00e1u th\u1ee9 hai t\u1eeb c\u00f9ng m\u1ed9t \u0111\u1ed1m m\u00e1u \u0111\u1ed1i v\u1edbi m\u1ed9t s\u1ed1 \u00edt m\u1eabu \u0111\u01b0\u1ee3c MS-QMA s\u00e0ng ch\u1ecdn v\u00e0 tr\u01b0\u1edbc khi tr\u1ea3 l\u1ea1i b\u1ea5t k\u1ef3 k\u1ebft qu\u1ea3 n\u00e0o cho cha m\u1eb9.<\/p>\n

M\u1eb7c d\u00f9 v\u1eady, Bs. Godler th\u1eeba nh\u1eadn r\u1eb1ng c\u1ea7n c\u00f3 th\u00eam b\u1eb1ng ch\u1ee9ng \u0111\u1ec3 th\u1ef1c s\u1ef1 \u0111\u00e1nh gi\u00e1 \u0111\u01b0\u1ee3c chi ph\u00ed \u2013 l\u1ee3i \u00edch c\u1ee7a NBS th\u01b0\u1eddng quy \u0111\u1ed1i v\u1edbi c\u00e1c r\u1ed1i lo\u1ea1n 15q. Tuy nhi\u00ean, x\u00e9t \u0111\u1ebfn vi\u1ec5n c\u1ea3nh ch\u1ea9n \u0111o\u00e1n mu\u1ed9n ho\u1eb7c b\u1ecf s\u00f3t c\u00f3 th\u1ec3 x\u1ea3y ra, v\u00e0 v\u1edbi c\u00e1c lo\u1ea1i thu\u1ed1c m\u1edbi \u0111ang \u0111\u01b0\u1ee3c ph\u00e1t tri\u1ec3n \u0111\u1ec3 \u0111i\u1ec1u tr\u1ecb r\u1ed1i lo\u1ea1n 15q, NBS th\u01b0\u1eddng quy c\u00f3 th\u1ec3 l\u00e0 b\u01b0\u1edbc \u0111\u1ed9t ph\u00e1 gi\u00fap c\u1ea3i thi\u1ec7n k\u1ebft qu\u1ea3 l\u00e2m s\u00e0ng cho nh\u1eefng c\u00e1 nh\u00e2n m\u1eafc ph\u1ea3i c\u00e1c t\u00ecnh tr\u1ea1ng n\u00e0y, c\u0169ng nh\u01b0 cho gia \u0111\u00ecnh h\u1ecd v\u00e0 cho h\u1ec7 th\u1ed1ng y t\u1ebf.<\/p>\n

\u0110\u00e2y l\u00e0 b\u00e0i vi\u1ebft \u0111\u1ea7u ti\u00ean trong lo\u1ea1t b\u00e0i v\u1ec1 s\u00e0ng l\u1ecdc cho tr\u1ebb s\u01a1 sinh v\u00e0 ch\u1ea9n \u0111o\u00e1n b\u1ec7nh hi\u1ebfm g\u1eb7p. \u0110\u1ec3 bi\u1ebft th\u00eam th\u00f4ng tin v\u1ec1 lo\u1ea1t b\u00e0i n\u00e0y, vui l\u00f2ng li\u00ean h\u1ec7 v\u1edbi Will Greene, Qu\u1ea3n l\u00fd H\u1ee3p t\u00e1c Ch\u0103m s\u00f3c S\u1ee9c kh\u1ecfe (Ch\u00e2u \u00c1 \u2013 Th\u00e1i B\u00ecnh D\u01b0\u01a1ng) theo \u0111\u1ecba ch\u1ec9 will.greene@roche.com.\u00a0<\/em><\/p>\n

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

[1]<\/a> Godler DE, Ling L, Gamage D, et al. Feasibility of Screening for Chromosome 15 Imprinting Disorders in 16\u202f579 Newborns by Using a Novel Genomic Workflow. JAMA Netw Open. 2022;5(1):e2141911. doi:10.1001\/jamanetworkopen.2021.41911<\/p>\n

[2]<\/a>\u00a0FPWR, FAST, ASF, and Duq15q Unite to Fund Newborn Screening Grant, Foundation for Prader-Willi Research C\u00f3 t\u1ea1i: <\/p>\n

[3]<\/a>\u00a0Overview of NBS and a Brief Discussion of PWS by Professor Daniel Driscoll at the Summit on Newborn screening for Prader-Willi syndrome and other chromosome 15 abnormalities, International Prader-Willi Syndrome Organisation.\u00a0C\u00f3 t\u1ea1i: <\/p>\n

[4]<\/a> \u00a0Newborn Screening for Prader-Willi syndrome\u00a0by Associate Professor David Godler at the Summit on Newborn screening for Prader-Willi syndrome and other chromosome 15 abnormalities, International Prader-Willi Syndrome Organisation. C\u00f3 t\u1ea1i: <\/p>\n","protected":false},"excerpt":{"rendered":"

V\u1edbi s\u1ef1 ra \u0111\u1eddi c\u1ee7a c\u00e1c ph\u01b0\u01a1ng ph\u00e1p chi ph\u00ed th\u1ea5p \u0111\u1ec3 x\u00e9t nghi\u1ec7m ba t\u00ecnh tr\u1ea1ng r\u1ed1i lo\u1ea1n nhi\u1ec5m s\u1eafc th\u1ec3 15q ph\u1ed5 bi\u1ebfn \u2013 h\u1ed9i ch\u1ee9ng Prader-Willi (PWS), h\u1ed9i ch\u1ee9ng Angelman v\u00e0 Dup15q, c\u00e1c nh\u00e0 nghi\u00ean c\u1ee9u \u1edf m\u1ed9t s\u1ed1 qu\u1ed1c gia hi\u1ec7n \u0111ang \u0111\u00e1nh gi\u00e1 vi\u1ec7c s\u1eed d\u1ee5ng ph\u01b0\u01a1ng ph\u00e1p n\u00e0y trong […]<\/p>\n","protected":false},"author":1,"featured_media":85422,"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":[14915],"pillarandcategory":[293,282,294],"reporter":[15011,15010],"class_list":["post-147169","acf_article","type-acf_article","status-publish","has-post-thumbnail","hentry","tag-uc","pillarandcategory-newborn-screening","pillarandcategory-disease-area","pillarandcategory-rare-diseases","reporter-david-godler","reporter-theresa-strong"],"acf":[],"_links":{"self":[{"href":"https:\/\/labinsights.com\/vi\/wp-json\/wp\/v2\/acf_article\/147169","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\/147169\/revisions"}],"predecessor-version":[{"id":147534,"href":"https:\/\/labinsights.com\/vi\/wp-json\/wp\/v2\/acf_article\/147169\/revisions\/147534"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/labinsights.com\/vi\/wp-json\/wp\/v2\/media\/85422"}],"wp:attachment":[{"href":"https:\/\/labinsights.com\/vi\/wp-json\/wp\/v2\/media?parent=147169"}],"wp:term":[{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/labinsights.com\/vi\/wp-json\/wp\/v2\/tags?post=147169"},{"taxonomy":"pillarandcategory","embeddable":true,"href":"https:\/\/labinsights.com\/vi\/wp-json\/wp\/v2\/pillarandcategory?post=147169"},{"taxonomy":"reporter","embeddable":true,"href":"https:\/\/labinsights.com\/vi\/wp-json\/wp\/v2\/reporter?post=147169"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}