{"id":144266,"date":"2022-11-10T04:29:49","date_gmt":"2022-11-10T04:29:49","guid":{"rendered":"https:\/\/labinsights.com\/acf_article\/%e5%a4%a9%e4%bd%bf%e7%97%87%e5%80%99%e7%be%a4%e6%97%a9%e6%9c%9f%e5%be%b5%e8%b1%a1%ef%bc%9a%e7%85%a7%e8%ad%b7%e8%80%85%e5%88%86%e4%ba%ab%e6%97%a9%e6%9c%9f%e8%a8%ba%e6%96%b7%e7%9a%84%e7%9b%8a%e8%99%95\/"},"modified":"2026-01-19T06:53:06","modified_gmt":"2026-01-19T06:53:06","slug":"angelman-syndrome-caregiver-shares-benefits-of-early-diagnosis","status":"publish","type":"acf_article","link":"https:\/\/labinsights.com\/zhtw\/disease-area\/rare-diseases\/angelman-syndrome-caregiver-shares-benefits-of-early-diagnosis\/","title":{"rendered":"\u5929\u4f7f\u75c7\u5019\u7fa4\u65e9\u671f\u5fb5\u8c61\uff1a\u7167\u8b77\u8005\u5206\u4eab\u65e9\u671f\u8a3a\u65b7\u7684\u76ca\u8655"},"content":{"rendered":"

\u96a8\u8457\u91dd\u5c0d\u5929\u4f7f\u75c7\u5019\u7fa4\uff08Angelman syndrome\uff0c\u4e00\u7a2e\u5f15\u8d77\u56b4\u91cd\u795e\u7d93\u767c\u5c55\u969c\u7919\u7684\u7f55\u898b\u907a\u50b3\u75be\u75c5\uff09\u7684\u65b0\u751f\u5152\u7be9\u6aa2\u6e2c\u8a66(NBS)\u7684\u51fa\u73fe\uff0c\u60a3\u8005\u53ca\u7167\u8b77\u8005\u53ef\u80fd\u5f88\u5feb\u5c31\u6703\u64c1\u6709\u5be6\u73fe\u65e9\u671f\u8a3a\u65b7\u7684\u65b0\u5de5\u5177[1]\u3002\u9019\u4e9b\u6aa2\u6e2c\u7684\u81e8\u5e8a\u6548\u7528\u548c\u6210\u672c\u6548\u76ca\u4ecd\u5728\u8a55\u4f30\u4e2d[2]\uff0c\u4f46\u5b83\u5011\u4f7f\u66f4\u591a\u5929\u4f7f\u75c7\u5019\u7fa4\u75c5\u60a3\u6709\u671b\u5f9e\u7a4d\u6975\u4ecb\u5165\u6cbb\u7642\u4e2d\u7372\u76ca\u3002<\/p>\n

Marina Leyba\u662fRoche Diagnostics\u5167\u90e8\u89e3\u6c7a\u65b9\u6848\u5354\u540c\u4f5c\u696d\u7814\u767c\u90e8\u9580\u7684\u5206\u652f\u8ca0\u8cac\u4eba\uff0c\u5979\u6bd4\u5927\u591a\u6578\u4eba\u90fd\u66f4\u77ad\u89e3\u65e9\u671f\u5075\u6e2c\u53ef\u80fd\u5e36\u4f86\u7684\u5de8\u5927\u5dee\u7570\u3002\u5982\u679c\u4e0d\u662fLeyba\u7684\u6c7a\u5fc3\u548c\u8b66\u60d5\u5979\u5973\u5152Bella\u53ef\u80fd\u8981\u9762\u5c0d\u5750\u8f2a\u6905\u7684\u751f\u6d3b\u3002<\/p>\n

Bella\u6c0f\u5929\u4f7f\u75c7\u5019\u7fa4\u65e9\u671f\u8a3a\u65b7Odyssey\u6545\u4e8b<\/h2>\n

Bella\u751f\u4e0b\u4f86\u5c31\u5f88\u5065\u5eb7\uff0c\u4f46\u5728\u6700\u521d\u7684\u5e7e\u500b\u6708\u88e1\uff0cLeyba\u7121\u6cd5\u52d5\u6416\u4efb\u4f55\u4e0d\u5c0d\u52c1\u7684\u611f\u89ba-\u5373\u4f7f\u5176\u4ed6\u4eba\uff0c\u5305\u62ecBella\u7684\u5152\u79d1\u91ab\u5e2b\uff0c\u90fd\u4ee5\u70ba\u9019\u53ea\u662f\u521d\u70ba\u4eba\u6bcd\u7684\u6bcd\u89aa\u901a\u5e38\u7684\u7126\u616e\u3002<\/p>\n

\u5e7e\u500b\u6708\u904e\u53bb\u4e86\uff0cLeyba\u7e7c\u7e8c\u89c0\u5bdf\u5230\u4ee4\u4eba\u64d4\u6182\u7684\u8de1\u8c61\u3002Bella\u6c92\u6709\u548c\u4eba\u9032\u884c\u773c\u795e\u63a5\u89f8\uff0c\u6c92\u6709\u5617\u8a66\u8aaa\u8a71\uff0c\u808c\u8089\u5f35\u529b\u7570\u5e38\u3002\u5979\u7684\u5973\u5152\u932f\u904e\u4e86\u767c\u80b2\u91cc\u7a0b\u7891\u4fc3\u4f7fLeyba\u8b93\u5979\u63a5\u53d7\u7269\u7406\u6cbb\u7642\u3002Leyba\u8aaa\uff1a\u300c\u6211\u7684\u76f4\u89ba\u544a\u8a34\u6211\uff0c\u9019\u88e1\u767c\u751f\u4e86\u4e00\u4e9b\u4e8b\u60c5\u3002<\/p>\n

\u9019\u4e00\u7d93\u9a57\u8b93Leyba\u8e0f\u4e0a\u4e86\u8a3a\u65b7\u4e4b\u8def\uff0c\u9019\u662f\u8a31\u591a\u7f55\u898b\u75be\u75c5\u7167\u9867\u8005\u7684\u5178\u578b\u7d93\u6b77\uff0c\u5c24\u5176\u662f\u90a3\u4e9b\u60a3\u6709\u975e\u4fb5\u5165\u6027\u7522\u524d\u6aa2\u6e2c\u548c\u65b0\u751f\u5152\u7be9\u6aa2\u6a19\u6e96\u65b9\u6cd5\u672a\u6db5\u84cb\u75c5\u75c7\u7684\u4eba\u3002\u6700\u521d\u7684\u4e00\u9023\u4e32\u6aa2\u6e2c\u90fd\u6c92\u6709\u767c\u73fe\uff0c\u8feb\u4f7f\u857e\u82ad\u5728\u4e0d\u540c\u7684\u91ab\u7642\u4e2d\u5fc3\u4e4b\u9593\u4f86\u56de\u5954\u6ce2\uff0c\u9019\u662f\u4e00\u9805\u4ee3\u50f9\u9ad8\u6602\u4e14\u4ee4\u4eba\u50b7\u5fc3\u7684\u4efb\u52d9\uff0c\u76ee\u7684\u662f\u77ad\u89e3\u5973\u5152\u7684\u75c7\u72c0\u3002<\/p>\n

\u6700\u5f8c\uff0c\u7576Bella\u5927\u7d0411\u500b\u6708\u5927\u6642\uff0c\u4e00\u4f4d\u795e\u7d93\u79d1\u91ab\u5e2b\u610f\u8b58\u5230\u5979\u6709\u7672\u7647\u767c\u4f5c\uff0c\u5efa\u8b70\u9032\u884c\u57fa\u56e0\u6aa2\u6e2c\u3002\u5c31\u5728\u5979\u4e00\u6b72\u751f\u65e5\u7684\u524d\u5915\uff0c\u8c9d\u62c9\u88ab\u8a3a\u65b7\u51fa\u60a3\u6709\u5929\u4f7f\u75c7\u5019\u7fa4(Angelman syndrome)\uff0c\u9019\u662f\u4e00\u7a2e\u7f55\u898b\u7684\u795e\u7d93\u75be\u60a3\uff0c\u5176\u7279\u5fb5\u5728\u65bc\u767c\u80b2\u9072\u7de9\u3001\u5b78\u7fd2\u969c\u7919\u3001\u7f3a\u4e4f\u8a00\u8a9e\u548c\u904b\u52d5\u554f\u984c\u4ee5\u53ca\u5176\u4ed6\u554f\u984c\u3002<\/p>\n

\u5929\u4f7f\u75c7\u5019\u7fa4\u65e9\u671f\u8a3a\u65b7\u7684\u76ca\u8655<\/h2>\n

\u82e5\u7121\u91dd\u5c0d\u5929\u4f7f\u75c7\u5019\u7fa4\u7684\u5e38\u898f\u7522\u524d\u6216\u65b0\u751f\u5152\u7be9\u6aa2\uff0c\u60a3\u6709\u8a72\u75c5\u75c7\u7684\u5152\u7ae5\u901a\u5e38\u591a\u5e74\u7121\u6cd5\u8a3a\u65b7\uff0c\u4e14\u6709\u6642\u6703\u88ab\u8aa4\u8a3a\u70ba\u8166\u6027\u9ebb\u75f9\u53ca\u5176\u4ed6\u75be\u60a3\u3002\u82e5\u7121\u7279\u6b8a\u6cbb\u7642\u7684\u76ca\u8655\uff0c\u60a3\u8005\u53ef\u80fd\u6c38\u9060\u7121\u6cd5\u8aaa\u8a71\u6216\u884c\u8d70\u3002<\/p>\n

\u78ba\u8a3a\u5f8c\uff0cBella\u6709\u8cc7\u683c\u63a5\u53d7\u6240\u6709\u5fc5\u8981\u7684\u6cbb\u7642\uff0c\u5305\u62ec\u8077\u696d\u3001\u8a00\u8a9e\u548c\u7269\u7406\u6cbb\u7642\u3002\u800c\u4e14\u56e0\u70baLeyba\u65e9\u5728\u78ba\u8a3a\u524d\u5c31\u5df2\u7d93\u958b\u59cb\u63a5\u53d7\u67d0\u4e9b\u6cbb\u7642\uff0c\u6240\u4ee5Bella\u7684\u9810\u5f8c\u660e\u986f\u6bd4\u5927\u591a\u6578\u5929\u4f7f\u75c7\u5019\u7fa4\u7684\u5b69\u5b50\u597d\u3002\u59794\u6b72\u958b\u59cb\u6b65\u884c\uff0c\u4e26\u767c\u5c55\u51fa\u8a31\u591a\u78ba\u8a3a\u8005\u6c38\u9060\u7121\u6cd5\u638c\u63e1\u7684\u7cbe\u7d30\u904b\u52d5\u6280\u80fd\u3002<\/p>\n

Leyba\u8aaa\uff1a\u300c\u9019\u4e9b\u5e74\u5c0d\u65bc\u6b63\u5728\u767c\u5c55\u7684\u8a9e\u8a00\u548c\u795e\u7d93\u9023\u7dda\u81f3\u95dc\u91cd\u8981\u3002\u300d\u300c\u6211\u5011\u5f88\u611f\u6fc0\u6211\u5011\u5f88\u65e9\u5f97\u5230\u5e6b\u52a9\uff0c\u4f46\u7cfb\u7d71\u4e0d\u662f\u9019\u6a23\u8a2d\u5b9a\u7684\u3002\u8a31\u591a\u5bb6\u5ead\u76f4\u5230\u5b69\u5b50\u5ea6\u904e\u9019\u4e9b\u95dc\u9375\u6b72\u6708\u624d\u6703\u767c\u73fe\u554f\u984c\u3002\u300d<\/p>\n

\u56de\u9996\u5f80\u4e8bLeyba\u5e0c\u671b\u5979\u80fd\u66f4\u65e9\u77e5\u9053\u8a3a\u65b7\u7d50\u679c\u3002\u65e9\u671f\u8a3a\u65b7\u4e0d\u50c5\u6703\u70baBella\u7684\u8a3a\u65b7\u6307\u660e\u65b9\u5411\uff0c\u4e5f\u6703\u8b93\u5979\u8df3\u904e\u8a31\u591a\u7121\u6cd5\u5f97\u5230\u7b54\u6848\u7684\u4e0d\u5fc5\u8981\u7684\u6aa2\u67e5\u3002<\/p>\n

\u5979\u8aaa\uff1a\u300c\u8a3a\u65b7\u6703\u63d0\u4f9b\u8cc7\u8a0a\uff0c\u4e5f\u6703\u63d0\u4f9b\u60a8\u7684\u8def\u5f91\u3002\u300d\u300c\u5982\u679c\u80fd\u66f4\u65e9\u77ad\u89e3\u6b64\u4e8b\uff0c\u6211\u5c31\u80fd\u70ba\u5979\u505a\u51fa\u66f4\u597d\u7684\u6c7a\u5b9a\uff0c\u4e26\u5c0b\u6c42\u6700\u4f73\u7684\u91ab\u7642\u7167\u8b77\u548c\u8cc7\u6e90\u3002\u300d<\/p>\n

\u5e0c\u671b\u8207\u884c\u52d5<\/h3>\n

\u8a3a\u65b7\u7d50\u679c\u4e5f\u5e6b\u52a9Leyla\u548c\u5979\u7684\u4e08\u592b\u6539\u8b8a\u5fc3\u610f\uff1a\u4ed6\u5011\u6c7a\u5b9a\u8981\u66f4\u591a\u7684\u5b69\u5b50\u3002\u5929\u4f7f\u75c7\u5019\u7fa4\u662f\u7531\u81ea\u767c\u6027\u7f3a\u5931\u800c\u975e\u907a\u50b3\u8b8a\u7570\u5f15\u8d77\u7684\uff0c\u56e0\u6b64\u592b\u59bb\u5006\u5728\u76f8\u540c\u8a3a\u65b7\u4e0b\u751f\u80b2\u66f4\u591a\u5b69\u5b50\u7684\u98a8\u96aa\u6c92\u6709\u589e\u52a0\u3002\u4ed6\u5011\u5f8c\u4f86\u6709\u4e86\u5169\u500b\u7537\u5b69\uff0c\u90fd\u5f88\u5065\u5eb7\u3002<\/p>\n

\u5728Bella\u78ba\u8a3a\u5f8c\uff0cLeyba\u4e5f\u96e2\u958b\u4e86\u5979\u5728\u822a\u7a7a\u9818\u57df\u7684\u8077\u696d\u751f\u6daf\uff0c\u52a0\u5165\u4e86\u7f85\u6c0f\uff0c\u9019\u6a23\u5979\u5c31\u53ef\u4ee5\u5e6b\u52a9\u78ba\u4fdd\u5176\u4ed6\u5bb6\u5ead\u7372\u5f97\u5fc5\u8981\u7684\u8a3a\u65b7\u6e2c\u8a66\uff0c\u4ee5\u5118\u53ef\u80fd\u4fdd\u6301\u5065\u5eb7\u3002\u4eca\u5929\uff0c\u5979\u5021\u5c0e\u64f4\u5c55\u65b0\u751f\u5152\u7be9\u6aa2\u53ca\u5176\u4ed6\u5de5\u5177\uff0c\u4ee5\u5118\u5feb\u70ba\u5bb6\u4eba\u63d0\u4f9b\u8cc7\u8a0a\u3002<\/p>\n

\u5979\u8aaa\uff1a\u300c\u8a3a\u65b7\u6642\u9593\u8d8a\u65e9\uff0c\u5b69\u5b50\u7684\u7d50\u679c\u5c31\u8d8a\u597d\u3002\u300d\u6211\u5805\u4fe1\u77e5\u8b58\u5c31\u662f\u529b\u91cf<\/p>\n

\u53c3\u8003\u6587\u737b\uff1a\u00a0<\/em><\/p>\n

[1] <\/a>\u65b0\u751f\u5152\u7be9\u6aa2\u662f\u5426\u61c9\u5305\u62ec15q\u67d3\u8272\u9ad4\u75be\u60a3\uff1f\u00a0 \u8acb\u9020\u8a2a\uff1ahttps:\/\/labinsights.com\/disease-area\/newborn-screening\/should-newborn-screening-include-chromosome-15q-disorders<\/p>\n

[2] <\/a>\u5982\u4f55\u7528\u66f4\u597d\u7684\u8b49\u64da\u5236\u5b9a\u65e9\u671f\u65b0\u751f\u5152\u7be9\u6aa2\u653f\u7b56\u8acb\u9020\u8a2a\uff1ahttps:\/\/labinsights.com\/disease-area\/newborn-screening\/how-early-check-shapes-newborn-screening-policy-with-better-evidence<\/p>\n","protected":false},"excerpt":{"rendered":"

\u96a8\u8457\u91dd\u5c0d\u5929\u4f7f\u75c7\u5019\u7fa4\uff08Angelman syndrome\uff0c\u4e00\u7a2e\u5f15\u8d77\u56b4\u91cd\u795e\u7d93\u767c\u5c55\u969c\u7919\u7684\u7f55\u898b\u907a\u50b3\u75be\u75c5\uff09\u7684\u65b0\u751f\u5152\u7be9\u6aa2\u6e2c\u8a66(NBS)\u7684\u51fa\u73fe\uff0c\u60a3\u8005\u53ca\u7167\u8b77\u8005\u53ef\u80fd\u5f88\u5feb\u5c31\u6703\u64c1\u6709\u5be6\u73fe\u65e9\u671f\u8a3a\u65b7\u7684\u65b0\u5de5\u5177[1]\u3002\u9019\u4e9b\u6aa2\u6e2c\u7684\u81e8\u5e8a\u6548\u7528\u548c\u6210\u672c\u6548\u76ca\u4ecd\u5728\u8a55\u4f30\u4e2d[2]\uff0c\u4f46\u5b83\u5011\u4f7f\u66f4\u591a\u5929\u4f7f\u75c7\u5019\u7fa4\u75c5\u60a3\u6709\u671b\u5f9e\u7a4d\u6975\u4ecb\u5165\u6cbb\u7642\u4e2d\u7372\u76ca\u3002 Marina Leyba\u662fRoche 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