{"id":145613,"date":"2022-11-10T04:29:49","date_gmt":"2022-11-10T04:29:49","guid":{"rendered":"https:\/\/labinsights.com\/acf_article\/%e5%ae%89%e6%a0%bc%e6%9b%bc%e7%bb%bc%e5%90%88%e5%be%81%e6%97%a9%e6%9c%9f%e5%be%81%e5%85%86%ef%bc%9a%e7%85%a7%e6%8a%a4%e8%80%85%e5%88%86%e4%ba%ab%e6%97%a9%e6%9c%9f%e8%af%8a%e6%96%ad%e7%9a%84%e7%9b%8a\/"},"modified":"2026-01-21T12:30:39","modified_gmt":"2026-01-21T12:30:39","slug":"angelman-syndrome-caregiver-shares-benefits-of-early-diagnosis","status":"publish","type":"acf_article","link":"https:\/\/labinsights.com\/zhcn\/disease-area\/rare-diseases\/angelman-syndrome-caregiver-shares-benefits-of-early-diagnosis\/","title":{"rendered":"\u5b89\u683c\u66fc\u7efc\u5408\u5f81\u65e9\u671f\u5f81\u5146\uff1a\u7167\u62a4\u8005\u5206\u4eab\u65e9\u671f\u8bca\u65ad\u7684\u76ca\u5904"},"content":{"rendered":"

\u968f\u7740\u9488\u5bf9\u5b89\u683c\u66fc\u7efc\u5408\u5f81\u7684\u65b0\u751f\u513f\u7b5b\u67e5\u68c0\u6d4b\uff08NBS\uff09\u95ee\u4e16\uff0c\u8fd9\u79cd\u5bfc\u81f4\u4e25\u91cd\u795e\u7ecf\u53d1\u80b2\u969c\u788d\u7684\u7f55\u89c1\u9057\u4f20\u75c5\u6709\u671b\u4e3a\u60a3\u8005\u548c\u7167\u62a4\u8005\u63d0\u4f9b\u65e9\u671f\u8bca\u65ad\u7684\u65b0\u5de5\u5177[1]\u3002\u8fd9\u4e9b\u68c0\u6d4b\u7684\u4e34\u5e8a\u6548\u7528\u548c\u6210\u672c\u6548\u76ca\u4ecd\u5728\u8bc4\u4f30\u4e2d[2]\uff0c\u4f46\u5b83\u4eec\u5e26\u6765\u4e86\u66f4\u591a\u5b89\u683c\u66fc\u60a3\u8005\u80fd\u4ece\u4e3b\u52a8\u5e72\u9884\u4e2d\u83b7\u76ca\u7684\u5e0c\u671b\u3002<\/p>\n

Roche Diagnostics\u7814\u53d1\u5185\u90e8\u89e3\u51b3\u65b9\u6848\u652f\u6301\u5206\u90e8\u95e8\u8d1f\u8d23\u4ebaMarina Leyba\u6bd4\u5927\u591a\u6570\u4eba\u66f4\u6e05\u695a\u65e9\u671f\u53d1\u73b0\u80fd\u5e26\u6765\u7684\u5de8\u5927\u6539\u53d8\u3002\u82e5\u975eLeyba\u7684\u575a\u6301\u4e0e\u8b66\u89c9\uff0c\u5979\u7684\u5973\u513fBella\u53ef\u80fd\u7ec8\u751f\u4e0e\u8f6e\u6905\u4e3a\u4f34\u3002<\/p>\n

Bella\u7684\u5b89\u683c\u66fc\u7efc\u5408\u5f81\u65e9\u671f\u8bca\u65ad\u5386\u7a0b<\/h2>\n

Bella\u51fa\u751f\u65f6\u5f88\u5065\u5eb7\uff0c\u4f46\u5728\u5934\u51e0\u4e2a\u6708\u91cc\uff0cLeyba\u59cb\u7ec8\u65e0\u6cd5\u6446\u8131\u4e0d\u5b89\u611f\u2014\u2014\u5c3d\u7ba1\u5305\u62ec\u513f\u79d1\u533b\u751f\u5728\u5185\u7684\u6240\u6709\u4eba\u90fd\u8ba4\u4e3a\u8fd9\u53ea\u662f\u521d\u4e3a\u4eba\u6bcd\u7684\u5e38\u89c1\u7126\u8651\u3002<\/p>\n

\u968f\u7740\u65f6\u95f4\u63a8\u79fb\uff0cLeyba\u6301\u7eed\u89c2\u5bdf\u5230\u4ee4\u4eba\u62c5\u5fe7\u7684\u8ff9\u8c61\u3002Bella\u4e0d\u4e0e\u4eba\u5bf9\u89c6\u3001\u4e0d\u5c1d\u8bd5\u8bf4\u8bdd\uff0c\u4e14\u5b58\u5728\u808c\u5f20\u529b\u5f02\u5e38\u3002\u5973\u513f\u672a\u80fd\u8fbe\u5230\u53d1\u80b2\u91cc\u7a0b\u7891\uff0c\u4fc3\u4f7fLeyba\u8ba9\u5979\u63a5\u53d7\u7269\u7406\u6cbb\u7597\u3002\u201c\u6211\u7684\u76f4\u89c9\u544a\u8bc9\u6211\u60c5\u51b5\u4e0d\u5bf9\u52b2\uff0c\u201dLeyba\u8bf4\u9053\u3002<\/p>\n

\u8fd9\u6bb5\u7ecf\u5386\u5f00\u542f\u4e86Leyba\u5178\u578b\u7684\u7f55\u89c1\u75c5\u8bca\u65ad\u4e4b\u65c5\uff0c\u5c24\u5176\u5bf9\u4e8e\u90a3\u4e9b\u65e0\u521b\u4ea7\u524d\u68c0\u6d4b\u548c\u65b0\u751f\u513f\u7b5b\u67e5\u6807\u51c6\u65b9\u6cd5\u672a\u6db5\u76d6\u7684\u75be\u75c5\u3002\u521d\u6b65\u7cfb\u5217\u68c0\u6d4b\u672a\u53d1\u73b0\u5f02\u5e38\uff0c\u8feb\u4f7fLeyba\u8f97\u8f6c\u4e8e\u591a\u5bb6\u533b\u7597\u4e2d\u5fc3\uff0c\u5728\u8017\u8d39\u5de8\u5927\u7ecf\u6d4e\u548c\u60c5\u611f\u4ee3\u4ef7\u7684\u6c42\u533b\u8fc7\u7a0b\u4e2d\u8bd5\u56fe\u89e3\u8bfb\u5973\u513f\u7684\u75c7\u72b6\u3002<\/p>\n

\u6700\u7ec8\u5f53Bella\u7ea611\u4e2a\u6708\u5927\u65f6\uff0c\u4e00\u4f4d\u795e\u7ecf\u79d1\u533b\u751f\u53d1\u73b0\u5979\u51fa\u73b0\u766b\u75eb\u53d1\u4f5c\u5e76\u5efa\u8bae\u57fa\u56e0\u68c0\u6d4b\u3002\u5c31\u5728Bella\u5373\u5c06\u6ee1\u5468\u5c81\u524d\uff0c\u5979\u88ab\u786e\u8bca\u60a3\u6709\u5b89\u683c\u66fc\u7efc\u5408\u5f81\u2014\u2014\u8fd9\u662f\u4e00\u79cd\u4ee5\u53d1\u80b2\u8fdf\u7f13\u3001\u5b66\u4e60\u969c\u788d\u3001\u8a00\u8bed\u7f3a\u5931\u548c\u8fd0\u52a8\u95ee\u9898\u7b49\u4e3a\u7279\u5f81\u7684\u7f55\u89c1\u795e\u7ecf\u7cfb\u7edf\u75be\u75c5\u3002<\/p>\n

\u5b89\u683c\u66fc\u7efc\u5408\u5f81\u65e9\u671f\u8bca\u65ad\u7684\u76ca\u5904<\/h2>\n

\u7531\u4e8e\u7f3a\u4e4f\u5e38\u89c4\u4ea7\u524d\u6216\u65b0\u751f\u513f\u5b89\u683c\u66fc\u7efc\u5408\u5f81\u7b5b\u67e5\uff0c\u60a3\u513f\u901a\u5e38\u591a\u5e74\u65e0\u6cd5\u786e\u8bca\uff0c\u6709\u65f6\u4f1a\u88ab\u8bef\u8bca\u4e3a\u8111\u762b\u7b49\u5176\u4ed6\u75be\u75c5\u3002\u82e5\u672a\u80fd\u63a5\u53d7\u7279\u6b8a\u6cbb\u7597\uff0c\u4ed6\u4eec\u53ef\u80fd\u6c38\u8fdc\u65e0\u6cd5\u8bf4\u8bdd\u6216\u884c\u8d70\u3002<\/p>\n

\u786e\u8bca\u540e\uff0cBella\u83b7\u5f97\u4e86\u6240\u9700\u7684\u6240\u6709\u6cbb\u7597\uff0c\u5305\u62ec\u4f5c\u4e1a\u6cbb\u7597\u3001\u8a00\u8bed\u6cbb\u7597\u548c\u7269\u7406\u6cbb\u7597\u3002\u7531\u4e8eLeyba\u5728\u786e\u8bca\u524d\u5c31\u5df2\u5f00\u59cb\u90e8\u5206\u6cbb\u7597\uff0cBella\u7684\u9884\u540e\u8fdc\u4f18\u4e8e\u591a\u6570\u5b89\u683c\u66fc\u7efc\u5408\u5f81\u60a3\u513f\u3002\u5979\u57284\u5c81\u65f6\u5f00\u59cb\u884c\u8d70\uff0c\u5e76\u53d1\u5c55\u51fa\u8bb8\u591a\u540c\u8bca\u65ad\u60a3\u8005\u7ec8\u751f\u65e0\u6cd5\u83b7\u5f97\u7684\u7cbe\u7ec6\u8fd0\u52a8\u6280\u80fd\u3002<\/p>\n

\u201c\u8fd9\u4e9b\u662f\u8bed\u8a00\u548c\u795e\u7ecf\u8fde\u63a5\u53d1\u80b2\u7684\u5173\u952e\u5e74\u4efd\uff0c\u201dLeyba\u8868\u793a\u3002\u201c\u6211\u4eec\u5f88\u5e86\u5e78\u53ca\u65e9\u83b7\u5f97\u4e86\u5e2e\u52a9\uff0c\u4f46\u73b0\u884c\u533b\u7597\u4f53\u7cfb\u5e76\u975e\u5982\u6b64\u8fd0\u4f5c\u3002\u8bb8\u591a\u5bb6\u5ead\u76f4\u5230\u5b69\u5b50\u8fdc\u8fdc\u9519\u8fc7\u8fd9\u4e9b\u5173\u952e\u5e74\u4efd\u540e\u624d\u53d1\u73b0\u95ee\u9898\u3002\u201d<\/p>\n

\u56de\u9996\u5f80\u4e8b\uff0cLeyba\u5e0c\u671b\u81ea\u5df1\u672c\u53ef\u4ee5\u66f4\u65e9\u5f97\u77e5\u8bca\u65ad\u7ed3\u679c\u3002\u65e9\u671f\u8bca\u65ad\u4e0d\u4ec5\u80fd\u6307\u660e\u8d1d\u62c9\u6240\u9700\u7684\u65b9\u5411\uff0c\u8fd8\u80fd\u8ba9\u5979\u514d\u53bb\u8bb8\u591a\u5f92\u52b3\u65e0\u679c\u7684\u4e0d\u5fc5\u8981\u68c0\u67e5\u3002<\/p>\n

\u201c\u8bca\u65ad\u7ed3\u679c\u80fd\u63d0\u4f9b\u4fe1\u606f\uff0c\u4e3a\u4f60\u6307\u660e\u9053\u8def\uff0c\u201d\u5979\u8bf4\u3002\u201c\u65e9\u77e5\u9053\u7684\u8bdd\uff0c\u6211\u5c31\u80fd\u4e3a\u5979\u505a\u51fa\u66f4\u597d\u7684\u51b3\u7b56\uff0c\u5bfb\u6c42\u6700\u4f73\u533b\u7597\u62a4\u7406\u548c\u8d44\u6e90\u3002\u201d<\/p>\n

\u5e0c\u671b\u548c\u884c\u52a8<\/h3>\n

\u8bca\u65ad\u7ed3\u679c\u8fd8\u4ee5\u53e6\u4e00\u79cd\u65b9\u5f0f\u5e2e\u52a9\u4e86Leyba\u548c\u5979\u7684\u4e08\u592b\uff1a\u4ed6\u4eec\u51b3\u5b9a\u751f\u80b2\u66f4\u591a\u5b69\u5b50\u3002\u5b89\u683c\u66fc\u7efc\u5408\u5f81\u662f\u7531\u81ea\u53d1\u57fa\u56e0\u7f3a\u5931\u800c\u975e\u9057\u4f20\u53d8\u5f02\u5f15\u8d77\uff0c\u56e0\u6b64\u8fd9\u5bf9\u592b\u5987\u751f\u80b2\u540c\u6837\u75c5\u75c7\u5b69\u5b50\u7684\u98ce\u9669\u5e76\u672a\u589e\u52a0\u3002\u4ed6\u4eec\u540e\u6765\u751f\u80b2\u4e86\u4e24\u4e2a\u5065\u5eb7\u7684\u7537\u5b69\u3002<\/p>\n

Bella\u786e\u8bca\u540e\uff0cLeyba\u79bb\u5f00\u4e86\u822a\u7a7a\u822a\u5929\u9886\u57df\u7684\u5de5\u4f5c\uff0c\u52a0\u5165Roche\u516c\u53f8\uff0c\u81f4\u529b\u4e8e\u5e2e\u52a9\u5176\u4ed6\u5bb6\u5ead\u83b7\u5f97\u4fdd\u6301\u5065\u5eb7\u6240\u9700\u7684\u8bca\u65ad\u68c0\u6d4b\u3002\u5982\u4eca\u5979\u79ef\u6781\u5021\u5bfc\u6269\u5927\u65b0\u751f\u513f\u7b5b\u67e5\u8303\u56f4\u53ca\u5176\u4ed6\u80fd\u5c3d\u65e9\u4e3a\u5bb6\u5ead\u63d0\u4f9b\u4fe1\u606f\u7684\u5de5\u5177\u3002<\/p>\n

\u201c\u8d8a\u65e9\u786e\u8bca\uff0c\u5b69\u5b50\u7684\u9884\u540e\u6548\u679c\u8d8a\u597d\uff0c\u201d\u5979\u8bf4\u3002\u201c\u6211\u575a\u4fe1\u77e5\u8bc6\u5c31\u662f\u529b\u91cf\u3002\u201d<\/p>\n

\u00a0 <\/p>\n

\u53c2\u8003\u6587\u732e\uff1a\u00a0<\/em><\/p>\n

[1] <\/a>\u65b0\u751f\u513f\u7b5b\u67e5\u662f\u5426\u5e94\u5305\u62ec15q\u67d3\u8272\u4f53\u75be\u75c5\uff1f\u00a0 \u8bf7\u8bbf\u95ee\uff1a\u00a0https:\/\/labinsights.com\/disease-area\/newborn-screening\/should-newborn-screening-include-chromosome-15q-disorders<\/p>\n

[2] <\/a>How Early Check shapes newborn screening policy with better evidence.\u8bf7\u8bbf\u95ee\uff1ahttps:\/\/labinsights.com\/disease-area\/newborn-screening\/how-early-check-shapes-newborn-screening-policy-with-better-evidence<\/p>\n","protected":false},"excerpt":{"rendered":"

\u968f\u7740\u9488\u5bf9\u5b89\u683c\u66fc\u7efc\u5408\u5f81\u7684\u65b0\u751f\u513f\u7b5b\u67e5\u68c0\u6d4b\uff08NBS\uff09\u95ee\u4e16\uff0c\u8fd9\u79cd\u5bfc\u81f4\u4e25\u91cd\u795e\u7ecf\u53d1\u80b2\u969c\u788d\u7684\u7f55\u89c1\u9057\u4f20\u75c5\u6709\u671b\u4e3a\u60a3\u8005\u548c\u7167\u62a4\u8005\u63d0\u4f9b\u65e9\u671f\u8bca\u65ad\u7684\u65b0\u5de5\u5177[1]\u3002\u8fd9\u4e9b\u68c0\u6d4b\u7684\u4e34\u5e8a\u6548\u7528\u548c\u6210\u672c\u6548\u76ca\u4ecd\u5728\u8bc4\u4f30\u4e2d[2]\uff0c\u4f46\u5b83\u4eec\u5e26\u6765\u4e86\u66f4\u591a\u5b89\u683c\u66fc\u60a3\u8005\u80fd\u4ece\u4e3b\u52a8\u5e72\u9884\u4e2d\u83b7\u76ca\u7684\u5e0c\u671b\u3002 Roche Diagnostics\u7814\u53d1\u5185\u90e8\u89e3\u51b3\u65b9\u6848\u652f\u6301\u5206\u90e8\u95e8\u8d1f\u8d23\u4ebaMarina Leyba\u6bd4\u5927\u591a\u6570\u4eba\u66f4\u6e05\u695a\u65e9\u671f\u53d1\u73b0\u80fd\u5e26\u6765\u7684\u5de8\u5927\u6539\u53d8\u3002\u82e5\u975eLeyba\u7684\u575a\u6301\u4e0e\u8b66\u89c9\uff0c\u5979\u7684\u5973\u513fBella\u53ef\u80fd\u7ec8\u751f\u4e0e\u8f6e\u6905\u4e3a\u4f34\u3002 Bella\u7684\u5b89\u683c\u66fc\u7efc\u5408\u5f81\u65e9\u671f\u8bca\u65ad\u5386\u7a0b Bella\u51fa\u751f\u65f6\u5f88\u5065\u5eb7\uff0c\u4f46\u5728\u5934\u51e0\u4e2a\u6708\u91cc\uff0cLeyba\u59cb\u7ec8\u65e0\u6cd5\u6446\u8131\u4e0d\u5b89\u611f\u2014\u2014\u5c3d\u7ba1\u5305\u62ec\u513f\u79d1\u533b\u751f\u5728\u5185\u7684\u6240\u6709\u4eba\u90fd\u8ba4\u4e3a\u8fd9\u53ea\u662f\u521d\u4e3a\u4eba\u6bcd\u7684\u5e38\u89c1\u7126\u8651\u3002 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shapes newborn screening policy with better 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