S\u1ef1 gia t\u0103ng c\u1ee7a x\u00e9t nghi\u1ec7m tr\u01b0\u1edbc sinh kh\u00f4ng x\u00e2m l\u1ea5n (NIPT) l\u00e0 m\u1ed9t trong nh\u1eefng c\u00e2u chuy\u1ec7n th\u00e0nh c\u00f4ng l\u1edbn nh\u1ea5t trong y h\u1ecdc ph\u00f2ng x\u00e9t nghi\u1ec7m trong nh\u1eefng th\u1eadp k\u1ef7 g\u1ea7n \u0111\u00e2y. \u0110\u1ed1i v\u1edbi nhi\u1ec1u thai ph\u1ee5, m\u1ed9t x\u00e9t nghi\u1ec7m m\u00e1u \u0111\u01a1n gi\u1ea3n nh\u1eafm v\u00e0o ADN nhau thai kh\u00f4ng c\u00f3 t\u1ebf b\u00e0o c\u00f3 th\u1ec3 gi\u00fap gi\u1ea3m \u0111\u00e1ng k\u1ec3 nhu c\u1ea7u ph\u1ea3i th\u1ef1c hi\u1ec7n c\u00e1c th\u1ee7 thu\u1eadt x\u00e2m l\u1ea5n nh\u01b0 ch\u1ecdc \u1ed1i ho\u1eb7c sinh thi\u1ebft gai nhau (CVS), v\u1ed1n c\u00f3 nguy c\u01a1 s\u1ea3y thai nh\u1ecf nh\u01b0ng c\u00f3 th\u1eadt.<\/p>\n
N\u1ebfu ph\u1ee5 n\u1eef mang thai n\u1eb1m trong nh\u00f3m b\u1ec7nh nh\u00e2n m\u00e0 ph\u00f2ng x\u00e9t nghi\u1ec7m l\u00e2m s\u00e0ng c\u1ee7a b\u1ea1n ph\u1ee5c v\u1ee5, th\u00ec NIPT l\u00e0 m\u1ed9t d\u1ecbch v\u1ee5 quan tr\u1ecdng c\u1ea7n b\u1ed5 sung v\u00e0o danh m\u1ee5c x\u00e9t nghi\u1ec7m n\u1ebfu b\u1ea1n ch\u01b0a tri\u1ec3n khai. C\u00e1c c\u1eadp nh\u1eadt g\u1ea7n \u0111\u00e2y v\u1ec1 h\u01b0\u1edbng d\u1eabn s\u00e0ng l\u1ecdc tr\u01b0\u1edbc sinh c\u1ee7a H\u1ecdc vi\u1ec7n Di truy\u1ec1n v\u00e0 Di truy\u1ec1n Y khoa Hoa K\u1ef3 (ACMG) nhi\u1ec1u kh\u1ea3 n\u0103ng s\u1ebd l\u00e0m t\u0103ng nhu c\u1ea7u x\u00e9t nghi\u1ec7m NIPT tr\u00ean to\u00e0n th\u1ebf gi\u1edbi, bao g\u1ed3m c\u1ea3 khu v\u1ef1c Ch\u00e2u \u00c1 \u2013 Th\u00e1i B\u00ecnh D\u01b0\u01a1ng.<\/p>\n
Theo nh\u1eefng h\u01b0\u1edbng d\u1eabn n\u00e0y<\/a>, \u0111\u01b0\u1ee3c c\u00f4ng b\u1ed1 v\u00e0o cu\u1ed1i n\u0103m ngo\u00e1i, ACMG \u0111\u01b0a ra \u201ckhuy\u1ebfn c\u00e1o m\u1ea1nh m\u1ebd\u201d r\u1eb1ng t\u1ea5t c\u1ea3 ph\u1ee5 n\u1eef mang thai \u0111\u01a1n thai ho\u1eb7c song thai n\u00ean \u0111\u01b0\u1ee3c x\u00e9t nghi\u1ec7m NIPT thay v\u00ec c\u00e1c ph\u01b0\u01a1ng ph\u00e1p s\u00e0ng l\u1ecdc tr\u01b0\u1edbc sinh truy\u1ec1n th\u1ed1ng. C\u1ee5 th\u1ec3, ACMG khuy\u1ebfn c\u00e1o NIPT l\u00e0 ph\u01b0\u01a1ng ph\u00e1p \u01b0u ti\u00ean \u0111\u1ec3 s\u00e0ng l\u1ecdc c\u00e1c t\u00ecnh tr\u1ea1ng sau:<\/p>\n \u0110\u1ed1i v\u1edbi t\u1eebng t\u00ecnh tr\u1ea1ng n\u00e0y, ACMG d\u1ef1a tr\u00ean c\u00e1c b\u1eb1ng ch\u1ee9ng cho th\u1ea5y t\u1ef7 l\u1ec7 ph\u00e1t hi\u1ec7n r\u1ea5t cao \u2014 tr\u00ean 98% \u0111\u1ed1i v\u1edbi tam nhi\u1ec5m s\u1eafc th\u1ec3 18 v\u00e0 21 c\u0169ng nh\u01b0 c\u00e1c b\u1ea5t th\u01b0\u1eddng nhi\u1ec5m s\u1eafc th\u1ec3 gi\u1edbi t\u00ednh, v\u00e0 kho\u1ea3ng 93% \u0111\u1ed1i v\u1edbi tam nhi\u1ec5m s\u1eafc th\u1ec3 13.<\/p>\n M\u1eb7c d\u00f9 c\u00e1c h\u01b0\u1edbng d\u1eabn n\u00eau r\u1eb1ng nh\u1eefng m\u1ee5c ti\u00eau s\u00e0ng l\u1ecdc b\u1ed5 sung, ch\u1eb3ng h\u1ea1n nh\u01b0 vi m\u1ea5t \u0111o\u1ea1n v\u00e0 c\u00e1c tam nhi\u1ec5m s\u1eafc th\u1ec3 di truy\u1ec1n hi\u1ebfm, l\u00e0 nh\u1eefng l\u0129nh v\u1ef1c \u0111\u01b0\u1ee3c quan t\u00e2m trong t\u01b0\u01a1ng lai, nh\u01b0ng ACMG v\u1eabn ch\u01b0a \u0111\u01b0a ra khuy\u1ebfn c\u00e1o s\u1eed d\u1ee5ng NIPT cho c\u00e1c m\u1ee5c \u0111\u00edch n\u00e0y \u0111\u1ed1i v\u1edbi t\u1ea5t c\u1ea3 ph\u1ee5 n\u1eef mang thai.<\/p>\n Trong c\u00e1c ph\u00f2ng x\u00e9t nghi\u1ec7m cung c\u1ea5p c\u00e1c s\u1ea3n ph\u1ea9m NIPT \u0111\u01b0\u1ee3c nh\u1eafm m\u1ee5c ti\u00eau cho s\u00e0ng l\u1ecdc tr\u01b0\u1edbc sinh, c\u00e1c x\u00e9t nghi\u1ec7m n\u00e0y \u0111\u00e3 \u0111\u01b0\u1ee3c c\u00e1c b\u00e1c s\u0129 v\u00e0 b\u1ec7nh nh\u00e2n \u0111\u00f3n nh\u1eadn. V\u00ed d\u1ee5, t\u1ea1i Seoul Clinical Laboratories \u1edf H\u00e0n Qu\u1ed1c, B\u00e1c s\u0129 Mikyeong Lee v\u00e0 B\u00e1c s\u0129 Bryan Lee \u0111\u00e3 nh\u1eadn th\u1ea5y nhu c\u1ea7u v\u1ec1 k\u1ebft qu\u1ea3 NIPT qu\u00e1 l\u1edbn \u0111\u1ebfn m\u1ee9c v\u00e0o n\u0103m 2021, h\u1ecd \u0111\u00e3 chuy\u1ec3n sang m\u1ed9t h\u1ec7 th\u1ed1ng cho ph\u00e9p th\u1ef1c hi\u1ec7n s\u00e0ng l\u1ecdc ngay trong ph\u00f2ng x\u00e9t nghi\u1ec7m c\u1ee7a m\u00ecnh m\u00e0 kh\u00f4ng c\u1ea7n \u0111\u1ebfn s\u1ef1 h\u1ed7 tr\u1ee3 tin h\u1ecdc ph\u1ee9c t\u1ea1p hay c\u00e1c thi\u1ebft b\u1ecb gi\u1ea3i tr\u00ecnh t\u1ef1 \u0111\u1eaft ti\u1ec1n.<\/p>\n \u1ede H\u00e0n Qu\u1ed1c, \u0111\u1ed9 tu\u1ed5i trung b\u00ecnh c\u1ee7a ph\u1ee5 n\u1eef mang thai \u0111\u00e3 t\u0103ng \u0111\u1ec1u qua c\u00e1c n\u0103m; hi\u1ec7n nay, \u00edt nh\u1ea5t m\u1ed9t ph\u1ea7n ba s\u1ed1 b\u00e0 m\u1eb9 mang thai \u0111\u01b0\u1ee3c coi l\u00e0 c\u00f3 nguy c\u01a1 cao. \u0110i\u1ec1u \u0111\u00f3 khi\u1ebfn NIPT tr\u1edf th\u00e0nh m\u1ed9t l\u1ef1a ch\u1ecdn quan tr\u1ecdng thay th\u1ebf c\u00e1c x\u00e9t nghi\u1ec7m x\u00e2m l\u1ea5n, v\u1ed1n c\u00f3 th\u1ec3 l\u00e0m t\u0103ng th\u00eam nguy c\u01a1 cho m\u1eb9 v\u00e0 thai nhi.<\/p>\n B\u00e1c s\u0129 Mikyeong Lee n\u00f3i: \u201cTh\u1ef1c ch\u1ea5t th\u00ec m\u1ed7i \u0111\u1ee9a tr\u1ebb \u0111\u1ec1u r\u1ea5t qu\u00fd gi\u00e1.\u201d \u201cM\u1eb7c d\u00f9 NIPT kh\u00f4ng ph\u1ea3i l\u00e0 m\u1ed9t x\u00e9t nghi\u1ec7m ch\u1ea9n \u0111o\u00e1n, nh\u01b0ng n\u00f3 gi\u00fap lo\u1ea1i b\u1ecf nh\u1eefng tr\u01b0\u1eddng h\u1ee3p mang thai c\u00f3 nguy c\u01a1 th\u1ea5p, v\u00ec v\u1eady c\u00e1c b\u00e1c s\u0129 c\u00f3 th\u1ec3 \u0111\u01b0a ra m\u1ed9t l\u00fd do khi th\u1ef1c hi\u1ec7n c\u00e1c x\u00e9t nghi\u1ec7m x\u00e2m l\u1ea5n cho c\u00e1c b\u1ea5t th\u01b0\u1eddng nhi\u1ec5m s\u1eafc th\u1ec3. K\u1ebft qu\u1ea3 s\u00e0ng l\u1ecdc c\u00f3 nguy c\u01a1 th\u1ea5p s\u1ebd gi\u1ea3m b\u1edbt r\u1ea5t nhi\u1ec1u c\u0103ng th\u1eb3ng m\u00e0 ng\u01b0\u1eddi m\u1eb9 mang thai c\u00f3 th\u1ec3 lo l\u1eafng v\u1ec1 s\u1ee9c kh\u1ecfe c\u1ee7a em b\u00e9.\u201d<\/p>\n B\u00e1c s\u0129 Bryan Lee l\u01b0u \u00fd gi\u00e1 tr\u1ecb c\u1ee7a vi\u1ec7c ch\u1ecdn m\u1ed9t x\u00e9t nghi\u1ec7m gi\u1edbi h\u1ea1n \u1edf c\u00e1c m\u1ee5c ti\u00eau \u0111\u01b0\u1ee3c \u0111\u1ec1 xu\u1ea5t b\u1edfi ACMG ho\u1eb7c c\u00e1c h\u01b0\u1edbng d\u1eabn chuy\u00ean m\u00f4n kh\u00e1c. \u00d4ng cho bi\u1ebft: \u201cKhi ch\u1ec9 x\u00e9t nghi\u1ec7m c\u00e1c b\u1ea5t th\u01b0\u1eddng \u0111\u00e3 \u0111\u01b0\u1ee3c bao g\u1ed3m trong c\u00e1c h\u01b0\u1edbng d\u1eabn th\u1ef1c t\u1ebf, ch\u1eb3ng h\u1ea1n nh\u01b0 h\u01b0\u1edbng d\u1eabn ACMG g\u1ea7n \u0111\u00e2y, s\u1ebd kh\u00f4ng c\u1ea7n ph\u1ea3i xem x\u00e9t l\u00e2u d\u00e0i li\u1ec7u x\u00e9t nghi\u1ec7m c\u00f3 ph\u00f9 h\u1ee3p hay kh\u00f4ng.\u201d \u201cM\u1eb7t kh\u00e1c, c\u00e1c x\u00e9t nghi\u1ec7m NIPT s\u1eed d\u1ee5ng c\u00e1c c\u00f4ng ngh\u1ec7 \u00edt \u0111\u01b0\u1ee3c ch\u1ee9ng minh ho\u1eb7c kh\u00f4ng \u0111\u01b0\u1ee3c s\u1eed d\u1ee5ng r\u1ed9ng r\u00e3i ch\u1eafc ch\u1eafn s\u1ebd ph\u00e1t sinh chi ph\u00ed cao h\u01a1n v\u00e0 \u0111\u00f2i h\u1ecfi nhi\u1ec1u n\u1ed7 l\u1ef1c h\u01a1n.\u201d<\/p>\n Trong khi \u0111\u00f3, t\u1ea1i Singapore, c\u00e1c b\u00e1c s\u0129 t\u1ea1i B\u1ec7nh vi\u1ec7n \u0110a khoa Singapore \u0111\u00e3 cung c\u1ea5p kh\u1ea3 n\u0103ng x\u00e9t nghi\u1ec7m NIPT k\u1ec3 t\u1eeb n\u0103m 2017 v\u00e0 c\u00e1c b\u1ec7nh nh\u00e2n c\u1ee7a h\u1ecd \u0111\u00e3 ph\u1ea3n h\u1ed3i t\u1ed1t. M\u1ed9t nghi\u00ean c\u1ee9u t\u1ea1i \u0111\u1ecba ph\u01b0\u01a1ng \u0111\u01b0\u1ee3c c\u00f4ng b\u1ed1 n\u0103m 2022 cho th\u1ea5y c\u00e1c b\u1ec7nh nh\u00e2n \u0111\u00e1nh gi\u00e1 cao t\u1ef7 l\u1ec7 ph\u00e1t hi\u1ec7n cao h\u01a1n v\u00e0 t\u1ef7 l\u1ec7 d\u01b0\u01a1ng t\u00ednh gi\u1ea3 th\u1ea5p h\u01a1n c\u1ee7a lo\u1ea1i x\u00e9t nghi\u1ec7m n\u00e0y [1]. C\u00e1c b\u00e1c s\u0129 c\u0169ng h\u00e0i l\u00f2ng, \u0111\u1eb7c bi\u1ec7t l\u00e0 v\u00ec NIPT \u00edt b\u1ecb h\u1ea1n ch\u1ebf th\u1eddi gian h\u01a1n so v\u1edbi c\u00e1c x\u00e9t nghi\u1ec7m th\u00f4ng th\u01b0\u1eddng m\u00e0 ph\u1ea3i th\u1ef1c hi\u1ec7n \u1edf nh\u1eefng th\u1eddi \u0111i\u1ec3m r\u1ea5t c\u1ee5 th\u1ec3 trong thai k\u1ef3.<\/p>\n B\u00e1c s\u0129 Tan Lay Kok\u00a0\u00a0t\u1ea1i B\u1ec7nh vi\u1ec7n \u0110a khoa Singapore cho bi\u1ebft: \u201cNIPT l\u00e0 m\u1ed9t lo\u1ea1i x\u00e9t nghi\u1ec7m c\u00f3 nhu c\u1ea7u ng\u00e0y c\u00e0ng t\u0103ng v\u00e0 c\u00e1c ph\u00f2ng x\u00e9t nghi\u1ec7m n\u00ean xem x\u00e9t li\u1ec7u h\u1ecd c\u00f3 th\u1ec3 h\u1ed7 tr\u1ee3 \u0111\u00e1p \u1ee9ng nhu c\u1ea7u n\u00e0y kh\u00f4ng.\u201d \u201cC\u00e1c y\u1ebfu t\u1ed1 quan tr\u1ecdng c\u1ea7n xem x\u00e9t s\u1ebd l\u00e0 chuy\u00ean m\u00f4n ph\u00f2ng x\u00e9t nghi\u1ec7m, kh\u1ea3 n\u0103ng th\u01b0\u01a1ng m\u1ea1i, v\u00e0 nhu c\u1ea7u l\u00e2m s\u00e0ng trong nh\u00f3m b\u1ec7nh nh\u00e2n.\u201d<\/p>\n Ngay c\u1ea3 trong nh\u1eefng n\u0103m \u0111\u1ea7u c\u1ee7a vi\u1ec7c cung c\u1ea5p NIPT, k\u1ef9 thu\u1eadt n\u00e0y \u0111\u00e3 nhanh ch\u00f3ng thay th\u1ebf c\u00e1c x\u00e9t nghi\u1ec7m x\u00e2m l\u1ea5n truy\u1ec1n th\u1ed1ng \u0111\u00e3 \u0111\u01b0\u1ee3c s\u1eed d\u1ee5ng trong nhi\u1ec1u th\u1eadp k\u1ef7. Tuy nhi\u00ean, NIPT v\u1eabn d\u1ef1a tr\u00ean m\u1ed9t c\u00f4ng ngh\u1ec7 t\u01b0\u01a1ng \u0111\u1ed1i m\u1edbi, v\u00ec v\u1eady n\u00f3 \u0111\u00e3 g\u1eb7p ph\u1ea3i nh\u1eefng kh\u00f3 kh\u0103n trong qu\u00e1 tr\u00ecnh ph\u00e1t tri\u1ec3n\u00a0c\u1ea3 trong c\u1ed9ng \u0111\u1ed3ng y t\u1ebf v\u00e0 \u0111\u1ed1i v\u1edbi c\u00f4ng ch\u00fang n\u00f3i chung [2].<\/p>\n Nh\u1eefng lo ng\u1ea1i v\u1ec1 vi\u1ec7c s\u1eed d\u1ee5ng NIPT th\u01b0\u1eddng d\u1ef1a tr\u00ean hi\u1ec3u l\u1ea7m v\u1ec1 m\u1ee5c \u0111\u00edch<\/a> c\u1ee7a lo\u1ea1i x\u00e9t nghi\u1ec7m n\u00e0y [3]. NIPT \u0111\u01b0\u1ee3c thi\u1ebft k\u1ebf nh\u01b0 l\u00e0 m\u1ed9t c\u00f4ng c\u1ee5 s\u00e0ng l\u1ecdc ch\u1ee9 kh\u00f4ng ph\u1ea3i l\u00e0 m\u1ed9t x\u00e9t nghi\u1ec7m ch\u1ea9n \u0111o\u00e1n; b\u1ea5t k\u1ef3 k\u1ebft qu\u1ea3 d\u01b0\u01a1ng t\u00ednh n\u00e0o c\u0169ng c\u1ea7n \u0111\u01b0\u1ee3c theo d\u00f5i b\u1eb1ng c\u00e1c ph\u01b0\u01a1ng ph\u00e1p truy\u1ec1n th\u1ed1ng nh\u01b0 ch\u1ecdc \u1ed1i ho\u1eb7c CVS \u0111\u1ec3 x\u00e1c nh\u1eadn. M\u1eb7c d\u00f9 \u0111\u00e2y l\u00e0 ki\u1ebfn th\u1ee9c ph\u1ed5 bi\u1ebfn trong c\u1ed9ng \u0111\u1ed3ng ph\u00f2ng th\u00ed nghi\u1ec7m l\u00e2m s\u00e0ng, nh\u01b0ng nhi\u1ec1u b\u00e1c s\u0129 s\u1ea3n khoa v\u00e0 b\u00e1c s\u0129 \u0111a khoa kh\u00f4ng nh\u1eadn th\u1ee9c \u0111\u1ea7y \u0111\u1ee7 v\u1ec1 \u0111i\u1ec1u n\u00e0y ho\u1eb7c c\u00f3 th\u1ec3 kh\u00f4ng gi\u1ea3i th\u00edch \u0111\u1ea7y \u0111\u1ee7 cho b\u1ec7nh nh\u00e2n tr\u01b0\u1edbc khi x\u00e9t nghi\u1ec7m. N\u1ebfu thi\u1ebfu \u0111i b\u1ed1i c\u1ea3nh quan tr\u1ecdng \u0111\u00f3, c\u00e1c k\u1ebft qu\u1ea3 d\u01b0\u01a1ng t\u00ednh gi\u1ea3 c\u00f3 th\u1ec3 b\u1ecb coi l\u00e0 th\u1ea3m h\u1ecda \u0111\u1ed1i v\u1edbi b\u1ec7nh nh\u00e2n.<\/p>\n Nh\u1eefng k\u1ebft qu\u1ea3 d\u01b0\u01a1ng t\u00ednh gi\u1ea3 th\u01b0\u1eddng xu\u1ea5t ph\u00e1t t\u1eeb nh\u1eefng l\u0129nh v\u1ef1c x\u00e9t nghi\u1ec7m v\u01b0\u1ee3t ra ngo\u00e0i c\u00e1c h\u01b0\u1edbng d\u1eabn c\u1ee7a ACMG, ch\u1eb3ng h\u1ea1n nh\u01b0 c\u00e1c vi thi\u1ebfu h\u1ee5t. M\u1eb7c d\u00f9 c\u00e1c s\u1ea3n ph\u1ea9m NIPT h\u1ee9a h\u1eb9n s\u1ebd x\u00e9t nghi\u1ec7m m\u1ed9t s\u1ed1 l\u01b0\u1ee3ng m\u1ee5c ti\u00eau l\u1edbn h\u01a1n c\u00f3 th\u1ec3 h\u1ea5p d\u1eabn c\u1ea3 b\u1ec7nh nh\u00e2n v\u00e0 b\u00e1c s\u0129, nh\u01b0ng vi\u1ec7c ch\u1ecdn m\u1ed9t x\u00e9t nghi\u1ec7m ch\u1ec9 s\u00e0ng l\u1ecdc c\u00e1c m\u1ee5c ti\u00eau hi\u1ec7n t\u1ea1i c\u1ee7a ACMG \u2014 bao g\u1ed3m h\u1ed9i ch\u1ee9ng Down (trisomy 21), h\u1ed9i ch\u1ee9ng Edwards (trisomy 18), h\u1ed9i ch\u1ee9ng Patau (trisomy 13) v\u00e0 c\u00e1c b\u1ea5t th\u01b0\u1eddng nhi\u1ec5m s\u1eafc th\u1ec3 gi\u1edbi t\u00ednh \u2014 gi\u00fap c\u00e1c nh\u00f3m ph\u00f2ng th\u00ed nghi\u1ec7m l\u00e2m s\u00e0ng b\u00e1o c\u00e1o k\u1ebft qu\u1ea3 ch\u00ednh x\u00e1c v\u00e0 \u0111\u00e1ng tin c\u1eady nh\u1ea5t m\u00e0 kh\u00f4ng ph\u1ea3i \u0111i v\u00e0o nh\u1eefng l\u0129nh v\u1ef1c c\u00f3 \u0111\u1ed9 ch\u00ednh x\u00e1c th\u1ea5p v\u00e0 nguy c\u01a1 ph\u1ea3i l\u00e0m th\u00eam c\u00e1c x\u00e9t nghi\u1ec7m theo d\u00f5i c\u00f3 th\u1ec3 ph\u00e1t sinh.<\/p>\n T\u00e0i li\u1ec7u tham kh\u1ea3o:<\/em><\/p>\n [1]<\/a>\u00a0Sim, W.S. et al. (2022) \u2018Preferences for a non\u2010invasive prenatal test as first\u2010line screening for Down Syndrome: A discrete choice experiment\u2019, Prenatal Diagnosis, 42(11), pp. 1368\u20131376. doi:10.1002\/pd.6239.<\/p>\n\n
M\u1ee9c \u0111\u1ed9 s\u1eed d\u1ee5ng NIPT t\u1ea1i H\u00e0n Qu\u1ed1c v\u00e0 Singapore<\/h2>\n
Gi\u1ea3i quy\u1ebft nh\u1eefng m\u1ed1i quan t\u00e2m c\u1ee7a b\u1ec7nh nh\u00e2n v\u00e0 b\u00e1c s\u0129 l\u00e2m s\u00e0ng<\/h2>\n