{"id":145596,"date":"2024-01-05T07:56:52","date_gmt":"2024-01-05T07:56:52","guid":{"rendered":"https:\/\/labinsights.com\/acf_article\/%e5%8f%b0%e6%b9%be%e6%96%b0%e7%94%9f%e5%84%bf%e6%9d%9c%e5%85%b4%e6%b0%8f%e8%82%8c%e8%90%a5%e5%85%bb%e4%b8%8d%e8%89%af%e7%ad%9b%e6%9f%a5%e6%83%85%e5%86%b5\/"},"modified":"2026-01-21T12:40:06","modified_gmt":"2026-01-21T12:40:06","slug":"how-taiwan-screens-newborns-for-duchenne-muscular-dystrophy","status":"publish","type":"acf_article","link":"https:\/\/labinsights.com\/zhcn\/disease-area\/newborn-screening\/how-taiwan-screens-newborns-for-duchenne-muscular-dystrophy\/","title":{"rendered":"\u53f0\u6e7e\u65b0\u751f\u513f\u675c\u5174\u6c0f\u808c\u8425\u517b\u4e0d\u826f\u7b5b\u67e5\u60c5\u51b5"},"content":{"rendered":"

\u5728\u5168\u7403\u8303\u56f4\u5185\uff0c\u53ea\u6709\u5c11\u6570\u56fd\u5bb6\u548c\u5730\u533a\u4f1a\u5bf9\u5927\u591a\u6570\u65b0\u751f\u513f\u5e38\u89c4\u5f00\u5c55\u675c\u5174\u6c0f\u808c\u8425\u517b\u4e0d\u826f (DMD) \u7b5b\u67e5\uff0c\u53f0\u6e7e\u4fbf\u662f\u5176\u4e2d\u4e4b\u4e00\u3002DMD \u662f\u4e00\u79cd\u4e3b\u8981\u7d2f\u53ca\u7537\u5b69\u7684\u4e25\u91cd\u9057\u4f20\u6027\u75be\u75c5\u3002\u7136\u800c\uff0c\u968f\u7740\u5bf9 DMD \u79d1\u5b66\u8ba4\u8bc6\u548c\u6cbb\u7597\u7684\u6301\u7eed\u8fdb\u5c55\uff0c\u9884\u8ba1\u5c06\u6709\u66f4\u591a\u56fd\u5bb6\/\u5730\u533a\u5728\u4e0d\u4e45\u7684\u5c06\u6765\u8003\u8651\u5c06\u8be5\u75be\u75c5\u7eb3\u5165\u5176\u65b0\u751f\u513f\u7b5b\u67e5 (NBS) \u9879\u76ee\u7ec4\u5408\u4e2d\u3002<\/p>\n

DMD \u662f\u4e00\u79cd\u5177\u6709\u6311\u6218\u6027\u7684\u75be\u75c5\uff0c\u4f1a\u5bfc\u81f4\u808c\u8089\u529f\u80fd\u8fdb\u884c\u6027\u4e27\u5931\uff0c\u5e76\u53ef\u5f15\u53d1\u65e9\u53d1\u6b7b\u4ea1\u3002\u5927\u591a\u6570 DMD \u7537\u5b69\u5728\u51fa\u751f\u65f6\u770b\u8d77\u6765\u90fd\u5f88\u5065\u5eb7\uff0c\u4ec5\u5728\u5e7c\u513f\u671f\u624d\u5f00\u59cb\u51fa\u73b0\u75be\u75c5\u5f81\u8c61\uff0c\u5c24\u5176\u8868\u73b0\u4e3a\u808c\u8089\u65e0\u529b\u548c\u8fd0\u52a8\u80fd\u529b\u53d7\u9650\u3002\u9274\u4e8e\u75be\u75c5\u8d77\u75c5\u5f80\u5f80\u7f13\u6162\u4e14\u9690\u533f\uff0c\u786e\u8bca\u4e4b\u8def\u901a\u5e38\u6f2b\u957f\u800c\u6602\u8d35\uff0c\u4f1a\u7ed9\u7167\u62a4\u8005\u5e26\u6765\u6c89\u91cd\u7684\u60c5\u611f\u8d1f\u62c5\u3002<\/p>\n

\u5c06 DMD \u7eb3\u5165 NBS \u9879\u76ee\u7ec4\u5408\uff0c\u4eba\u4eec\u5e0c\u671b\u901a\u8fc7\u53ca\u65e9\u53d1\u73b0\u75be\u75c5\uff0c\u907f\u514d\u6f2b\u957f\u7684\u786e\u8bca\u8fc7\u7a0b\uff0c\u53ca\u65e9\u542f\u52a8\u79ef\u6781\u6cbb\u7597\uff0c\u5e76\u4e3a\u590d\u6742\u7684\u4eba\u751f\u89c4\u5212\u51b3\u7b56\u9884\u7559\u66f4\u591a\u65f6\u95f4\uff0c\u4ece\u800c\u6539\u5584\u60a3\u8005\u548c\u7167\u62a4\u8005\u7684\u7ed3\u5c40\u3002\u7f8e\u56fd\u7f55\u89c1\u75c5\u7814\u7a76\u4e0e\u5021\u5bfc\u673a\u6784 EveryLife Foundation for Rare Diseases \u8fd1\u671f\u7684\u4e00\u9879\u7814\u7a76\u8868\u660e\uff0c\u65e9\u671f\u8bca\u65ad\u8fd8\u53ef\u4e3a\u533b\u7597\u4fdd\u5065\u7cfb\u7edf\u8282\u7ea6\u5927\u91cf\u6210\u672c [1]\u3002<\/p>\n

\u4e3a\u4e86\u66f4\u597d\u5730\u4e86\u89e3\u5728\u5f00\u5c55 DMD NBS \u65f6\u7684\u5b9e\u9645\u8003\u91cf\u53ca\u6f5c\u5728\u76ca\u5904\uff0cLab Insights \u91c7\u8bbf\u4e86 Yin-Hsiu Chien \u535a\u58eb\uff0c\u5979\u662f\u4e00\u4f4d\u513f\u79d1\u533b\u751f\u517c\u533b\u5b66\u9057\u4f20\u5b66\u5bb6\uff0c\u73b0\u4efb\u56fd\u7acb\u53f0\u6e7e\u5927\u5b66\u533b\u9662 (NTUH) \u65b0\u751f\u513f\u7b5b\u67e5\u4e2d\u5fc3\u4e3b\u4efb\u3002\u9664\u4e86\u5728 NTUH \u7275\u5934\u5f00\u5c55 DMD NBS \u8bd5\u70b9\u9879\u76ee\u5916\uff0c\u5979\u8fd8\u662f\u4e00\u7bc7\u8be6\u7ec6\u9610\u8ff0\u8be5\u9879\u76ee\u65b9\u6cd5\u548c\u7ed3\u679c\u7684\u671f\u520a\u8bba\u6587\u7684\u7b2c\u4e00\u4f5c\u8005 [2]\u3002<\/p>\n

\u542f\u52a8 DMD \u7b5b\u67e5\u8bd5\u70b9\u9879\u76ee<\/h2>\n

2021 \u5e74 2 \u6708\uff0cNTUH \u4f5c\u4e3a\u53f0\u6e7e\u4e09\u5927\u516c\u7acb\u65b0\u751f\u513f\u7b5b\u67e5\u4e2d\u5fc3\u4e4b\u4e00\uff0c\u7387\u5148\u5f00\u5c55\u4e86 DMD NBS \u8bd5\u70b9\u9879\u76ee\u3002\u56e0\u6b64\uff0cChien \u535a\u58eb\u548c NTUH \u7684\u540c\u4e8b\u6210\u4e3a\u53f0\u6e7e\u6700\u65e9\uff0c\u4e5f\u662f\u5168\u7403\u6700\u65e9\u4e00\u6279\u610f\u8bc6\u5230 DMD \u7b5b\u67e5\u6f5c\u5728\u76ca\u5904\u7684\u56e2\u961f\u4e4b\u4e00\u3002<\/p>\n

Chien \u535a\u58eb\u8bf4\uff1a\u201c\u6211\u4eec\u8ba4\u4e3a DMD \u7b5b\u67e5\u975e\u5e38\u91cd\u8981\uff0c\u4e3b\u8981\u6709\u51e0\u4e2a\u539f\u56e0\u3002\u201d\u201c\u5728\u6bcf 5,000 \u540d\u7537\u6027\u6d3b\u4ea7\u513f\u4e2d\uff0c\u4fbf\u4f1a\u6709 1 \u540d\u53d7\u5230\u8be5\u75c5\u5f71\u54cd\uff0c\u56e0\u6b64\u4e0e\u5176\u4ed6\u7f55\u89c1\u9057\u4f20\u75c5\u76f8\u6bd4\uff0c\u60a3\u75c5\u7387\u76f8\u5bf9\u8f83\u9ad8\u3002\u5b83\u8fd8\u662f\u4e00\u79cd X \u8fde\u9501\u9057\u4f20\u75c5\uff0c\u8003\u8651\u5230\u5b58\u5728\u518d\u6b21\u53d1\u751f\u98ce\u9669\u7684\u60c5\u51b5\u4e0b\uff0c\u65e9\u671f\u53d1\u73b0\u4e5f\u6709\u52a9\u4e8e\u7236\u6bcd\u5236\u5b9a\u751f\u80b2\u8ba1\u5212\u3002\u6700\u540e\uff0c\u4e5f\u662f\u6700\u91cd\u8981\u7684\u4e00\u70b9\u662f\uff0c\u76ee\u524d\u6709\u8bb8\u591a\u524d\u666f\u826f\u597d\u7684\u6cbb\u7597\u6b63\u5728\u7814\u53d1\uff0c\u800c\u4e14\u6211\u4eec\u77e5\u9053\uff0c\u65e9\u671f\u5e72\u9884\u6709\u671b\u5e26\u6765\u66f4\u597d\u7684\u9884\u540e\u3002\u201d<\/p>\n

Chien \u535a\u58eb\u8fd8\u6307\u51fa\uff0c\u5728 NTUH \u542f\u52a8\u5176\u8bd5\u70b9\u9879\u76ee\u65f6\uff0c\u5df2\u7ecf\u6709\u4e00\u6b3e\u7528\u4e8e DMD \u7b5b\u67e5\u7684 FDA \u6279\u51c6 IVD \u8bd5\u5242\u76d2\u53ef\u4f9b\u4f7f\u7528\uff0c\u8fd9\u8ba9\u4ed6\u4eec\u5f97\u4ee5\u6bd4\u5176\u4ed6\u56fd\u5bb6\u548c\u5730\u533a\u7684\u65e2\u5f80\u7814\u7a76\u66f4\u5feb\u5730\u542f\u52a8\u8bd5\u70b9\u3002\u8be5\u8bd5\u70b9\u9879\u76ee\u7684\u7ed3\u679c\u4e8e 2022 \u5e74 5 \u6708\u53d1\u8868\uff0c\u5171\u7eb3\u5165\u524d 50,572 \u540d\u65b0\u751f\u513f\uff0c\u5176\u4e2d\u53d1\u73b0 3 \u4f8b\u786e\u8bca\u7684 DMD \u60a3\u513f\u3002 \u6b64\u540e\uff0c\u53f0\u6e7e\u53e6\u5916\u4e24\u5bb6 NBS \u7b5b\u67e5\u4e2d\u5fc3\u4e5f\u7eb3\u5165\u4e86 DMD \u7b5b\u67e5\u3002<\/p>\n

\u5728\u53f0\u6e7e\uff0cDMD \u7b5b\u67e5\u76ee\u524d\u4f5c\u4e3a\u4e00\u9879\u201c\u6269\u5c55\u68c0\u6d4b\u9879\u76ee\u7ec4\u5408\u201d\u5411\u65b0\u751f\u513f\u63d0\u4f9b\uff0c\u9644\u52a0\u5728\u653f\u5e9c\u8d44\u52a9\u7684\u6807\u51c6\u7b5b\u67e5\u9879\u76ee\u4e4b\u4e0a\uff0c\u7531\u5bb6\u957f\u81ea\u8d39\u9009\u62e9\u3002\u8d85\u8fc7 90% \u7684\u53f0\u6e7e\u5bb6\u957f\u4f1a\u9009\u62e9\u8be5\u6269\u5c55\u68c0\u6d4b\u9879\u76ee\u7ec4\u5408\uff0c\u56e0\u6b64\u76ee\u524d\u7edd\u5927\u591a\u6570\u53f0\u6e7e\u65b0\u751f\u513f\u5728\u51fa\u751f\u65f6\u90fd\u4f1a\u63a5\u53d7\u00a0DMD \u7b5b\u67e5\uff08\u5173\u4e8e\u53f0\u6e7e NBS \u4f53\u7cfb\u7684\u6784\u5efa\u65b9\u5f0f\uff0c\u53ef\u53c2\u89c1\u6b64\u524d\u5728 Lab Insights \u4e0a\u4e0e Chien \u535a\u58eb\u7684\u95ee\u7b54<\/a>\uff09\u3002<\/p>\n

\u53f0\u6e7e\u7684 DMD \u7b5b\u67e5\u6d41\u7a0b<\/h2>\n

\u9488\u5bf9 DMD \u7684\u751f\u5316\u7b5b\u67e5\u4e3b\u8981\u68c0\u6d4b\u808c\u9178\u6fc0\u9176 MM \u578b (CK-MM)\uff0c\u8fd9\u662f\u4e00\u79cd\u808c\u8089\u635f\u4f24\u6807\u5fd7\u7269\uff0c\u5728\u60a3\u6709\u8be5\u75be\u75c5\u7684\u65b0\u751f\u513f\u51fa\u751f\u65f6\uff0c\u8be5\u6807\u5fd7\u7269\u901a\u5e38\u5904\u4e8e\u5347\u9ad8\u6c34\u5e73\u3002\u521d\u59cb\u6837\u672c\u53d6\u81ea\u7528\u4e8e\u5176\u4ed6 NBS \u68c0\u6d4b\u7684\u540c\u4e00\u4efd\u5e72\u8840\u6591 (DBS) \u6837\u672c\uff1b\u540e\u7eed\u68c0\u6d4b\u5219\u9700\u8981\u989d\u5916\u9759\u8109\u91c7\u8840\u3002<\/p>\n

\u5728 NTUH \u7684\u8bd5\u70b9\u9879\u76ee\u4e2d\uff0cChien \u535a\u58eb\u548c\u540c\u4e8b\u4eec\u5236\u5b9a\u4e86\u4e00\u5957\u591a\u6b65\u9aa4\u65b9\u6848\uff0c\u9996\u5148\u5728\u51fa\u751f\u540e\u51e0\u5929\u5185\u6d4b\u91cf CK-MM \u6c34\u5e73\u3002CK-MM \u503c\u5904\u4e8e\u603b\u5206\u5e03\u524d 1% \u7684\u5a74\u513f\uff08\u8db3\u6708\u65b0\u751f\u513f \u2265750 ng\/mL\uff0c\u65e9\u4ea7\u513f \u2265650 ng\/mL\uff09\u88ab\u5217\u4e3a\u590d\u68c0\u5bf9\u8c61\u3002\u8be5\u622a\u65ad\u8303\u56f4\u53c2\u8003\u4e86\u4e2d\u56fd\u6b64\u524d\u7684\u4e00\u9879\u7814\u7a76\u786e\u5b9a\uff0c\u65e8\u5728\u964d\u4f4e\u5047\u9633\u6027\u75c5\u4f8b\uff0c\u540c\u65f6\u5c3d\u91cf\u4e0d\u6f0f\u6389\u4efb\u4f55\u771f\u9633\u6027\u75c5\u4f8b\u3002<\/p>\n

\u7136\u540e\u5728\u4e24\u5468\u65f6\uff0c\u5bf9\u6392\u540d\u524d 1% \u7684\u5a74\u513f\u8fdb\u884c\u590d\u68c0\uff0cCK-MM \u2265300 ng\/mL \u7684\u5a74\u513f\u5219\u5b89\u6392\u7b2c\u4e09\u6b21\u590d\u68c0\u3002\u6b64\u5916\uff0c\u4ed6\u4eec\u8fd8\u5bf9\u5a74\u513f\u8fdb\u884c\u4e86\u5bb6\u65cf\u53f2\u91c7\u96c6\u4ee5\u8bc4\u4f30\u989d\u5916\u98ce\u9669\u56e0\u7d20\uff0c\u5e76\u901a\u8fc7\u4e00\u9879\u6db5\u76d6 DMD \u53ca\u5176\u4ed6\u795e\u7ecf\u808c\u8089\u75be\u75c5\u7684\u4e0b\u4e00\u4ee3\u6d4b\u5e8f (NGS) \u57fa\u56e0\u7ec4\u5408\u8fdb\u884c\u8fdb\u4e00\u6b65\u68c0\u6d4b\uff08NGS \u68c0\u6d4b\u540c\u6837\u901a\u8fc7\u51fa\u751f\u65f6\u91c7\u96c6\u7684\u5e72\u8840\u6591\u6837\u672c\u5b8c\u6210\uff09\u3002<\/p>\n

\u63a2\u7d22\u66ff\u4ee3\u7b5b\u67e5\u65b9\u6848<\/h2>\n

\u4f7f\u7528 CK-MM \u7684\u4e00\u4e2a\u6311\u6218\u662f\uff0c\u5b83\u5bf9 DMD \u5e76\u4e0d\u662f\u9ad8\u5ea6\u7279\u5f02\u6027\u7684\u6807\u5fd7\u7269\u3002CK-MM \u5347\u9ad8\u4e5f\u53ef\u80fd\u7531\u4ea7\u4f24\u6216\u5176\u4ed6\u60c5\u51b5\u5f15\u8d77\uff0c\u56e0\u6b64\u5728\u65b0\u751f\u513f\u671f\u7684\u521d\u7b5b\u4e2d\u5e38\u5e38\u4f1a\u51fa\u73b0\u8f83\u9ad8\u7684\u5047\u9633\u6027\u7387\u3002\u56e0\u6b64\uff0c\u5404\u9879\u7814\u7a76\u4e5f\u5728\u63a2\u7d22\u66ff\u4ee3\u65b9\u6848\uff0c\u4ee5\u63d0\u9ad8\u68c0\u6d4b\u7684\u51c6\u786e\u6027\u3002<\/p>\n

\u90e8\u5206\u7814\u7a76\u4e3a CK-MM \u590d\u68c0\u8bbe\u5b9a\u4e86\u4e0d\u540c\u7684\u622a\u65ad\u503c\u3002Chien \u535a\u58eb\u6307\u51fa\uff1a\u201c\u5148\u524d\u7684\u7814\u7a76\u8868\u660e\uff0cDMD \u60a3\u513f\u5728\u65b0\u751f\u513f\u671f\u7684 CK-MM \u6c34\u5e73\u901a\u5e38\u8d85\u8fc7 1,000 ng\/mL\uff0c\u800c\u4e00\u8fc7\u6027\u5347\u9ad8\u66f4\u5e38\u89c1\u4e8e 400\u2013500 ng\/mL \u8303\u56f4\u3002\u201d\u201c\u4f46\u5c3d\u7ba1\u533a\u5206\u5ea6\u826f\u597d\uff0c\u6211\u4eec\u4ecd\u575a\u6301\u5bf9\u524d 1% \u60a3\u513f\u8fdb\u884c\u590d\u7b5b\uff0c\u56e0\u4e3a\u6211\u4eec\u5e0c\u671b\u964d\u4f4e\u5047\u9634\u6027\u7684\u98ce\u9669\u3002\u201d<\/p>\n

\u4ece\u6280\u672f\u5c42\u9762\u5206\u6790\uff0c\u4e5f\u53ef\u4ee5\u5c06 NGS\u00a0\u4f5c\u4e3a\u4e8c\u7ea7\u751a\u81f3\u4e00\u7ea7\u68c0\u6d4b\u4f7f\u7528\uff0c\u4f8b\u5982\u91c7\u7528\u795e\u7ecf\u808c\u8089\u75be\u75c5\u57fa\u56e0\u9879\u76ee\u7ec4\u5408\uff0c\u751a\u81f3\u8fdb\u884c\u5168\u5916\u663e\u5b50\u7ec4\u6216\u5168\u57fa\u56e0\u7ec4\u68c0\u6d4b\u3002\u8fd9\u5bf9\u4e8e\u65e0\u6cd5\u8fd4\u56de\u533b\u9662\u63a5\u53d7\u7b2c\u4e8c\u6b21 CK-MM \u7b5b\u67e5\u7684\u5bb6\u957f\u5c24\u5176\u6709\u5e2e\u52a9\uff0c\u4f46\u540c\u65f6\u4e5f\u4f1a\u63d0\u9ad8\u6574\u4f53\u7b5b\u67e5\u6210\u672c\u3002Chien \u535a\u58eb\u8fd8\u8ba4\u4e3a\uff0c\u6709\u5fc5\u8981\u7ee7\u7eed\u5e76\u884c\u5f00\u5c55\u57fa\u4e8e CK-MM \u7684\u751f\u5316\u68c0\u6d4b\uff0c\u56e0\u4e3a\u201c\u6211\u4eec\u5c1a\u672a\u5b8c\u5168\u4e86\u89e3\u6240\u6709\u57fa\u56e0\u53d8\u5f02\u201d\u3002<\/p>\n

\u5411\u7236\u6bcd\u89e3\u91ca\u7ed3\u679c<\/h2>\n

\u65b0\u751f\u513f DMD \u7b5b\u67e5\u7684\u53e6\u4e00\u4e2a\u91cd\u8981\u6311\u6218\uff0c\u662f\u5982\u4f55\u5411\u7236\u6bcd\u89e3\u91ca\u7b5b\u67e5\u7ed3\u679c\u3002\u5bf9\u4e8e\u65b0\u751f\u513f CK-MM \u503c\u5904\u4e8e\u524d 1% \u7684\u7236\u6bcd\u6765\u8bf4\uff0c\u5728\u4e0d\u5f15\u8d77\u4e0d\u5fc5\u8981\u6050\u614c\u7684\u524d\u63d0\u4e0b\uff0c\u8ba9\u4ed6\u4eec\u5145\u5206\u7406\u89e3\u590d\u7b5b\u7684\u91cd\u8981\u6027\u548c\u76ee\u7684\u5f88\u91cd\u8981\u3002<\/p>\n

Chien \u8bf4\uff1a\u201c\u6211\u4eec\u7684\u65b0\u751f\u513f\u75c5\u623f\u5f80\u5f80\u4e0e\u7236\u6bcd\u5efa\u7acb\u8d77\u6700\u7d27\u5bc6\u7684\u8054\u7cfb\uff0c\u56e0\u6b64\u901a\u5e38\u7531\u8be5\u75c5\u623f\u7684\u533b\u62a4\u4eba\u5458\u6765\u8d1f\u8d23\u5927\u90e8\u5206\u6c9f\u901a\u3002\u201d\u201c\u6211\u4eec\u9f13\u52b1\u6240\u6709\u5bb6\u5ead\u56de\u9662\u8fdb\u884c\u590d\u7b5b\uff0c\u4f46\u5bf9\u4e8e CK-MM \u503c\u7279\u522b\u9ad8\u4e14\u65e0\u6cd5\u7528\u5176\u4ed6\u4e34\u5e8a\u56e0\u7d20\u89e3\u91ca\u7684\u60a3\u513f\u5bb6\u5ead\uff0c\u6211\u4eec\u4f1a\u7ed9\u4e88\u66f4\u52a0\u660e\u786e\u3001\u5f3a\u70c8\u7684\u590d\u7b5b\u5efa\u8bae\u3002\u201d<\/p>\n

\u5bf9\u4e8e\u5b69\u5b50\u6700\u7ec8\u83b7\u5f97\u8bca\u65ad\u4e3a DMD \u7684\u7236\u6bcd\u6765\u8bf4\uff0c\u4e34\u5e8a\u533b\u751f\u548c\u9057\u4f20\u54a8\u8be2\u5e08\u9762\u4e34\u7740\u66f4\u6df1\u5c42\u6b21\u7684\u6311\u6218\uff0c\u5373\u5411\u4ed6\u4eec\u4f20\u8fbe\u6bc1\u706d\u6027\u3001\u8db3\u4ee5\u6539\u53d8\u4eba\u751f\u8f68\u8ff9\u7684\u8bca\u65ad\u7ed3\u679c\uff0c\u8fd9\u5f80\u5f80\u4f1a\u5f15\u53d1\u5bb6\u957f\u7684\u60b2\u75db\u3001\u75db\u82e6\u3001\u6050\u60e7\u7b49\u4e00\u7cfb\u5217\u8d1f\u9762\u60c5\u7eea\u3002\u7136\u800c\uff0cChien \u533b\u751f\u5e0c\u671b\uff0c\u5168\u65b0\u6cbb\u7597\u65b9\u6cd5\u5c06\u63d0\u4f9b\u66f4\u4e50\u89c2\u7684\u524d\u666f\u3002<\/p>\n

\u5979\u8bf4\uff1a\u201c\u5728\u53f0\u6e7e\uff0c\u65b0\u751f\u513f DMD \u7b5b\u67e5\u5c06\u4f1a\u957f\u671f\u6301\u7eed\u4e0b\u53bb\u3002\u201d\u201c\u5f53\u6211\u4eec\u5728\u672c\u5730\u62e5\u6709\u66f4\u591a\u66f4\u597d\u7684\u6cbb\u7597\u65b9\u6848\u53ef\u4f9b\u9009\u62e9\u65f6\uff0c\u8fd9\u79cd\u7b5b\u67e5\u7b56\u7565\u7684\u4ef7\u503c\uff0c\u4ee5\u53ca\u5bf9\u7b5b\u67e5\u7ed3\u679c\u9633\u6027\u60a3\u513f\u540e\u7eed\u5904\u7406\u6b65\u9aa4\u7684\u610f\u4e49\uff0c\u5c06\u4f1a\u66f4\u52a0\u6e05\u6670\u3002\u201d<\/p>\n

\u672c\u6587\u7531 Roche Diagnostics \u4e9a\u592a\u533a\u533b\u7597\u5408\u4f5c\u4e8b\u52a1\u7ecf\u7406 Will Greene \u64b0\u5199\uff0c\u4ed6\u540c\u65f6\u4e5f\u662f Project Strongbow \u7684\u8054\u5408\u8d1f\u8d23\u4eba\u3002\u8be5\u9879\u76ee\u65e8\u5728\u901a\u8fc7\u6559\u80b2\u5185\u5bb9\u548c\u793e\u533a\u5efa\u8bbe\uff0c\u63a8\u52a8\u65b0\u751f\u513f\u7b5b\u67e5\u9886\u57df\u7684\u6700\u4f73\u5b9e\u8df5\u3002\u8bf7\u8bbf\u95ee\u6211\u4eec\u7684\u65b0\u751f\u513f\u7b5b\u67e5\u9875\u9762<\/a> \uff0c\u89c2\u770b\u6709\u5173\u6b64\u4e3b\u9898\u7684\u66f4\u591a\u6587\u7ae0\u548c\u89c6\u9891\u3002<\/em><\/p>\n

\u53c2\u8003\u6587\u732e\uff1a<\/em><\/p>\n

[1]<\/a> The Cost of Delayed Diagnosis in Rare Disease: A Health Economic Study (2023) EveryLife Foundation.Available at: https:\/\/everylifefoundation.org\/wp-content\/uploads\/2023\/09\/EveryLife-Cost-of-Delayed-Diagnosis-in-Rare-Disease_Final-Full-Study-Report_0914223.pdf<\/p>\n

[2]<\/a> Chien, Y.-H. et al. (2022) \u2018Duchenne muscular dystrophy newborn screening: The first 50,000 newborns screened in Taiwan\u2019, Neurological Sciences, 43(7), pp. 4563\u20134566. doi:10.1007\/s10072-022-06128-2.<\/p>\n

[3]<\/a>https:\/\/www.labinsights.com\/get-inspired\/content\/newborn-screening-taiwan-qa-dr-yin-hsiu-nancy-chien<\/p>\n","protected":false},"excerpt":{"rendered":"

\u5728\u5168\u7403\u8303\u56f4\u5185\uff0c\u53ea\u6709\u5c11\u6570\u56fd\u5bb6\u548c\u5730\u533a\u4f1a\u5bf9\u5927\u591a\u6570\u65b0\u751f\u513f\u5e38\u89c4\u5f00\u5c55\u675c\u5174\u6c0f\u808c\u8425\u517b\u4e0d\u826f (DMD) \u7b5b\u67e5\uff0c\u53f0\u6e7e\u4fbf\u662f\u5176\u4e2d\u4e4b\u4e00\u3002DMD \u662f\u4e00\u79cd\u4e3b\u8981\u7d2f\u53ca\u7537\u5b69\u7684\u4e25\u91cd\u9057\u4f20\u6027\u75be\u75c5\u3002\u7136\u800c\uff0c\u968f\u7740\u5bf9 DMD \u79d1\u5b66\u8ba4\u8bc6\u548c\u6cbb\u7597\u7684\u6301\u7eed\u8fdb\u5c55\uff0c\u9884\u8ba1\u5c06\u6709\u66f4\u591a\u56fd\u5bb6\/\u5730\u533a\u5728\u4e0d\u4e45\u7684\u5c06\u6765\u8003\u8651\u5c06\u8be5\u75be\u75c5\u7eb3\u5165\u5176\u65b0\u751f\u513f\u7b5b\u67e5 (NBS) \u9879\u76ee\u7ec4\u5408\u4e2d\u3002 DMD \u662f\u4e00\u79cd\u5177\u6709\u6311\u6218\u6027\u7684\u75be\u75c5\uff0c\u4f1a\u5bfc\u81f4\u808c\u8089\u529f\u80fd\u8fdb\u884c\u6027\u4e27\u5931\uff0c\u5e76\u53ef\u5f15\u53d1\u65e9\u53d1\u6b7b\u4ea1\u3002\u5927\u591a\u6570 DMD \u7537\u5b69\u5728\u51fa\u751f\u65f6\u770b\u8d77\u6765\u90fd\u5f88\u5065\u5eb7\uff0c\u4ec5\u5728\u5e7c\u513f\u671f\u624d\u5f00\u59cb\u51fa\u73b0\u75be\u75c5\u5f81\u8c61\uff0c\u5c24\u5176\u8868\u73b0\u4e3a\u808c\u8089\u65e0\u529b\u548c\u8fd0\u52a8\u80fd\u529b\u53d7\u9650\u3002\u9274\u4e8e\u75be\u75c5\u8d77\u75c5\u5f80\u5f80\u7f13\u6162\u4e14\u9690\u533f\uff0c\u786e\u8bca\u4e4b\u8def\u901a\u5e38\u6f2b\u957f\u800c\u6602\u8d35\uff0c\u4f1a\u7ed9\u7167\u62a4\u8005\u5e26\u6765\u6c89\u91cd\u7684\u60c5\u611f\u8d1f\u62c5\u3002 \u5c06 DMD \u7eb3\u5165 NBS \u9879\u76ee\u7ec4\u5408\uff0c\u4eba\u4eec\u5e0c\u671b\u901a\u8fc7\u53ca\u65e9\u53d1\u73b0\u75be\u75c5\uff0c\u907f\u514d\u6f2b\u957f\u7684\u786e\u8bca\u8fc7\u7a0b\uff0c\u53ca\u65e9\u542f\u52a8\u79ef\u6781\u6cbb\u7597\uff0c\u5e76\u4e3a\u590d\u6742\u7684\u4eba\u751f\u89c4\u5212\u51b3\u7b56\u9884\u7559\u66f4\u591a\u65f6\u95f4\uff0c\u4ece\u800c\u6539\u5584\u60a3\u8005\u548c\u7167\u62a4\u8005\u7684\u7ed3\u5c40\u3002\u7f8e\u56fd\u7f55\u89c1\u75c5\u7814\u7a76\u4e0e\u5021\u5bfc\u673a\u6784 EveryLife Foundation for Rare Diseases \u8fd1\u671f\u7684\u4e00\u9879\u7814\u7a76\u8868\u660e\uff0c\u65e9\u671f\u8bca\u65ad\u8fd8\u53ef\u4e3a\u533b\u7597\u4fdd\u5065\u7cfb\u7edf\u8282\u7ea6\u5927\u91cf\u6210\u672c [1]\u3002 \u4e3a\u4e86\u66f4\u597d\u5730\u4e86\u89e3\u5728\u5f00\u5c55 DMD NBS \u65f6\u7684\u5b9e\u9645\u8003\u91cf\u53ca\u6f5c\u5728\u76ca\u5904\uff0cLab Insights \u91c7\u8bbf\u4e86 Yin-Hsiu Chien \u535a\u58eb\uff0c\u5979\u662f\u4e00\u4f4d\u513f\u79d1\u533b\u751f\u517c\u533b\u5b66\u9057\u4f20\u5b66\u5bb6\uff0c\u73b0\u4efb\u56fd\u7acb\u53f0\u6e7e\u5927\u5b66\u533b\u9662 (NTUH) \u65b0\u751f\u513f\u7b5b\u67e5\u4e2d\u5fc3\u4e3b\u4efb\u3002\u9664\u4e86\u5728 NTUH \u7275\u5934\u5f00\u5c55 DMD NBS \u8bd5\u70b9\u9879\u76ee\u5916\uff0c\u5979\u8fd8\u662f\u4e00\u7bc7\u8be6\u7ec6\u9610\u8ff0\u8be5\u9879\u76ee\u65b9\u6cd5\u548c\u7ed3\u679c\u7684\u671f\u520a\u8bba\u6587\u7684\u7b2c\u4e00\u4f5c\u8005 [2]\u3002 \u542f\u52a8 DMD \u7b5b\u67e5\u8bd5\u70b9\u9879\u76ee 2021 \u5e74 2 \u6708\uff0cNTUH \u4f5c\u4e3a\u53f0\u6e7e\u4e09\u5927\u516c\u7acb\u65b0\u751f\u513f\u7b5b\u67e5\u4e2d\u5fc3\u4e4b\u4e00\uff0c\u7387\u5148\u5f00\u5c55\u4e86 DMD NBS \u8bd5\u70b9\u9879\u76ee\u3002\u56e0\u6b64\uff0cChien \u535a\u58eb\u548c NTUH \u7684\u540c\u4e8b\u6210\u4e3a\u53f0\u6e7e\u6700\u65e9\uff0c\u4e5f\u662f\u5168\u7403\u6700\u65e9\u4e00\u6279\u610f\u8bc6\u5230 […]<\/p>\n","protected":false},"author":1,"featured_media":142310,"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":[12344],"pillarandcategory":[293,282,294],"reporter":[14139],"class_list":["post-145596","acf_article","type-acf_article","status-publish","has-post-thumbnail","hentry","tag-12344","pillarandcategory-newborn-screening","pillarandcategory-disease-area","pillarandcategory-rare-diseases","reporter-chien-yin-hsiu"],"acf":[],"_links":{"self":[{"href":"https:\/\/labinsights.com\/zhcn\/wp-json\/wp\/v2\/acf_article\/145596","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/labinsights.com\/zhcn\/wp-json\/wp\/v2\/acf_article"}],"about":[{"href":"https:\/\/labinsights.com\/zhcn\/wp-json\/wp\/v2\/types\/acf_article"}],"author":[{"embeddable":true,"href":"https:\/\/labinsights.com\/zhcn\/wp-json\/wp\/v2\/users\/1"}],"version-history":[{"count":1,"href":"https:\/\/labinsights.com\/zhcn\/wp-json\/wp\/v2\/acf_article\/145596\/revisions"}],"predecessor-version":[{"id":145864,"href":"https:\/\/labinsights.com\/zhcn\/wp-json\/wp\/v2\/acf_article\/145596\/revisions\/145864"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/labinsights.com\/zhcn\/wp-json\/wp\/v2\/media\/142310"}],"wp:attachment":[{"href":"https:\/\/labinsights.com\/zhcn\/wp-json\/wp\/v2\/media?parent=145596"}],"wp:term":[{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/labinsights.com\/zhcn\/wp-json\/wp\/v2\/tags?post=145596"},{"taxonomy":"pillarandcategory","embeddable":true,"href":"https:\/\/labinsights.com\/zhcn\/wp-json\/wp\/v2\/pillarandcategory?post=145596"},{"taxonomy":"reporter","embeddable":true,"href":"https:\/\/labinsights.com\/zhcn\/wp-json\/wp\/v2\/reporter?post=145596"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}