{"id":141346,"date":"2023-05-31T05:29:45","date_gmt":"2023-05-31T05:29:45","guid":{"rendered":"https:\/\/labinsights.com\/acf_article\/%e6%96%b0%e7%9a%84acmg%e6%8c%87%e5%8d%97%e5%a1%91%e9%80%a0%e4%ba%9e%e5%a4%aa%e5%9c%b0%e5%8d%80%e7%9a%84nipt%e6%94%9d%e5%8f%96\/"},"modified":"2026-01-19T07:14:50","modified_gmt":"2026-01-19T07:14:50","slug":"new-acmg-guidelines-shape-nipt-uptake-in-asia-pacific","status":"publish","type":"acf_article","link":"https:\/\/labinsights.com\/zhtw\/disease-area\/rare-diseases\/new-acmg-guidelines-shape-nipt-uptake-in-asia-pacific\/","title":{"rendered":"\u65b0\u7684ACMG\u6307\u5357\u5851\u9020\u4e9e\u592a\u5730\u5340\u7684NIPT\u651d\u53d6"},"content":{"rendered":"<p class=\"text-align-justify\">\u975e\u4fb5\u5165\u6027\u7522\u524d\u6aa2\u6e2c(NIPT)\u7684\u8208\u8d77\u662f\u8fd1\u5e7e\u5341\u5e74\u4f86\u5be6\u9a57\u5ba4\u91ab\u5b78\u7684\u6700\u5927\u6210\u529f\u6848\u4f8b\u4e4b\u4e00\u3002\u5c0d\u65bc\u8a31\u591a\u61f7\u5b55\u7684\u75c5\u4eba\uff0c\u4ee5\u7121\u7d30\u80de\u80ce\u76e4DNA\u70ba\u6a19\u9776\u7684\u7c21\u55ae\u8840\u6db2\u6e2c\u8a66\uff0c\u53ef\u986f\u8457\u6e1b\u5c11\u5c0d\u4fb5\u5165\u6027\u66ff\u4ee3\u54c1(\u4f8b\u5982\u7f8a\u819c\u7a7f\u523a\u8853\u6216\u7d68\u6bdb\u819c\u7d68\u6bdb\u53d6\u6a23(CVS))\u7684\u9700\u6c42\uff0c\u6b64\u985e\u66ff\u4ee3\u54c1\u6703\u5f15\u5165\u5f88\u5c0f\u4f46\u771f\u5be6\u7684\u6d41\u7522\u98a8\u96aa\u3002<\/p>\n<p class=\"text-align-justify\">\u5982\u679c\u60a8\u7684\u81e8\u5e8a\u5be6\u9a57\u5ba4\u670d\u52d9\u5c0d\u8c61\u70ba\u90e8\u5206\u75c5\u60a3\uff0c\u5982\u679c\u6aa2\u6e2c\u5c08\u6848\u5c1a\u672a\u5be6\u65bd\uff0cNIPT\u662f\u589e\u52a0\u5230\u6aa2\u6e2c\u5c08\u6848\u7684\u91cd\u8981\u529f\u80fd\u3002\u7f8e\u570b\u91ab\u5b78\u907a\u50b3\u5b78\u53ca\u57fa\u56e0\u9ad4\u5b78\u6703(ACMG)\u6700\u8fd1\u5c0d\u7522\u524d\u7be9\u6aa2\u6307\u5357\u7684\u66f4\u65b0\u53ef\u80fd\u6703\u589e\u52a0\u5168\u4e16\u754c\uff08\u5305\u62ec\u4e9e\u592a\u5730\u5340\uff09\u5c0dNIPT\u7684\u9700\u6c42\u3002<\/p>\n<p class=\"text-align-justify\">\u6839\u64da\u53bb\u5e74\u5e95\u767c\u4f48\u7684 <a href=\"https:\/\/www.sciencedirect.com\/science\/article\/pii\/S1098360022010048?via%3Dihub\" target=\"_blank\" rel=\"noopener\">\u9019\u4e9b\u6307\u5357<\/a>\uff0cACMG\u63d0\u51fa\u300c\u5f37\u70c8\u5efa\u8b70\u300d\uff0c\u6240\u6709\u651c\u5e36\u55ae\u80de\u80ce\u6216\u96d9\u80de\u80ce\u7684\u5b55\u5a66\u61c9\u4f7f\u7528NIPT\u4ee3\u66ff\u50b3\u7d71\u7684\u7522\u524d\u7be9\u6aa2\u65b9\u6cd5\u9032\u884c\u6aa2\u6e2c\u3002\u5177\u9ad4\u800c\u8a00\uff0cACMG\u5efa\u8b70NIPT\u4f5c\u70ba\u7be9\u9078\u4ee5\u4e0b\u7269\u8cea\u7684\u9996\u9078\u65b9\u6cd5\uff1a<\/p>\n<ul>\n<li class=\"text-align-justify\">21\u4e09\u9ad4\uff08\u5510\u6c0f\u75c7\u5019\u7fa4\uff09<\/li>\n<li class=\"text-align-justify\">\u7b2c18\u865f\u9ad4\u67d3\u8272\u9ad4\u4e09\u689d\uff08Edwards\u6c0f\u75c7\u5019\u7fa4\uff09<\/li>\n<li class=\"text-align-justify\">\u7b2c13\u865f\u9ad4\u67d3\u8272\u9ad4\u4e09\u689d\uff08Patau\u6c0f\u75c7\u5019\u7fa4\uff09<\/li>\n<li class=\"text-align-justify\">\u6027\u67d3\u8272\u9ad4\u7570\u5e38\/\u975e\u6574\u500d\u6027<\/li>\n<\/ul>\n<p class=\"text-align-justify\">\u5c0d\u65bc\u9019\u4e9b\u75c5\u6cc1\u4e2d\u4e4b\u6bcf\u4e00\u8005\uff0cACMG\u4f9d\u8cf4\u986f\u793a\u5075\u6e2c\u7387\u6975\u4f73\u7684\u8b49\u64da\u2014\u9ad8\u65bc98%\u768418\u548c21\u4e09\u9ad4\u4ee5\u53ca\u6027\u67d3\u8272\u9ad4\u7570\u5e38\uff0c\u800c13\u4e09\u9ad4\u7684\u5075\u6e2c\u7387\u7d04\u70ba93%\u3002<\/p>\n<p class=\"text-align-justify\">\u96d6\u7136\u6307\u5357\u6307\u51fa\uff0c\u5176\u4ed6\u7be9\u9078\u6a19\u9776\uff0c\u4f8b\u5982\u5fae\u7f3a\u5931\u548c\u7f55\u898b\u7684\u5e38\u67d3\u8272\u9ad4\u4e09\u9ad4\u67d3\u8272\u9ad4\u662f\u672a\u4f86\u7684\u95dc\u6ce8\u9818\u57df\uff0c\u4f46ACMG\u5c1a\u672a\u5411\u6240\u6709\u5b55\u5a66\u767c\u4f48\u70ba\u6b64\u76ee\u7684\u4f7f\u7528NIPT\u7684\u5efa\u8b70\u3002<\/p>\n<h2 class=\"text-align-justify\" style=\"font-family: Inter !important; font-weight: 500 !important; font-size: 28px !important; line-height: 36px !important; letter-spacing: 0px !important;\">\u97d3\u570b\u53ca\u65b0\u52a0\u5761\u5c0dNIPT\u4e4b\u5438\u6536<\/h2>\n<p class=\"text-align-justify\">\u5728\u63d0\u4f9b\u7528\u65bc\u7522\u524d\u7be9\u6aa2\u4e4b\u9776\u5411NIPT\u7522\u54c1\u7684\u5be6\u9a57\u5ba4\u4e2d\uff0c\u9019\u4e9b\u6aa2\u6e2c\u53d7\u5230\u91ab\u5e2b\u548c\u75c5\u60a3\u7684\u6b61\u8fce\u3002\u4f8b\u5982\uff0c\u5728\u97d3\u570b\u7684\u9996\u723e\u81e8\u5e8a\u5be6\u9a57\u5ba4\uff0cMikyeong Lee\u535a\u58eb\u548cBryan Lee\u535a\u58eb\u770b\u5230\u5c0dNIPT\u7d50\u679c\u7684\u9700\u6c42\u5982\u6b64\u4e4b\u5927\uff0c\u4ee5\u81f3\u65bc\u4ed6\u5011\u57282021\u5e74\u8f49\u5411\u4e00\u7a2e\u7cfb\u7d71\uff0c\u4f7f\u4ed6\u5011\u80fd\u5920\u5728\u81ea\u5df1\u7684\u5be6\u9a57\u5ba4\u4e2d\u9032\u884c\u7be9\u9078\uff0c\u800c\u7121\u9700\u5ee3\u6cdb\u7684\u8cc7\u8a0a\u5b78\u652f\u63f4\u6216\u6602\u8cb4\u7684\u5b9a\u5e8f\u5100\u5668\u3002<\/p>\n<p class=\"text-align-justify\">\u5728\u97d3\u570b\uff0c\u5b55\u5a66\u7684\u5e73\u5747\u5e74\u9f61\u4e00\u76f4\u5728\u7a69\u6b65\u4e0a\u5347\uff1b\u5982\u4eca\uff0c\u81f3\u5c11\u4e09\u5206\u4e4b\u4e00\u7684\u6e96\u5abd\u5abd\u88ab\u8a8d\u70ba\u5177\u6709\u9ad8\u98a8\u96aa\u3002\u9019\u4f7f\u5f97NIPT\u6210\u70ba\u53ef\u80fd\u589e\u52a0\u98a8\u96aa\u7684\u4fb5\u5165\u6027\u6e2c\u8a66\u7684\u95dc\u9375\u66ff\u4ee3\u65b9\u6848\u3002<\/p>\n<p class=\"text-align-justify\">Mikyeong Lee\u535a\u58eb\u8aaa\uff1a\u300c\u5be6\u969b\u4e0a\u6bcf\u500b\u5b30\u5152\u90fd\u662f\u73cd\u8cb4\u7684\u3002\u300c\u96d6\u7136NIPT\u4e0d\u662f\u4e00\u7a2e\u8a3a\u65b7\u6027\u6aa2\u6e2c\uff0c\u4f46\u5b83\u6703\u7be9\u9664\u4f4e\u98a8\u96aa\u61f7\u5b55\uff0c\u56e0\u6b64\u91ab\u5e2b\u53ef\u4ee5\u5728\u5c0d\u67d3\u8272\u9ad4\u7570\u5e38\u9032\u884c\u4fb5\u5165\u6027\u6aa2\u6e2c\u6642\u63d0\u4f9b\u4f9d\u64da\u3002\u7be9\u9078\u6642\u7372\u5f97\u4f4e\u98a8\u96aa\u7d50\u679c\u5c07\u5927\u5927\u964d\u4f4e\u5b55\u5a66\u5c0d\u80ce\u5152\u5065\u5eb7\u7684\u4efb\u4f55\u58d3\u529b\u3002\u300d<\/p>\n<p class=\"text-align-justify\">Bryan Lee\u91ab\u5e2b\u6ce8\u610f\u5230\u9078\u64c7\u50c5\u9650\u65bc\u7531ACMG\u6216\u5176\u4ed6\u5c08\u696d\u6307\u5357\u63a8\u85a6\u7684\u76ee\u6a19\u7684\u6aa2\u6e2c\u7684\u50f9\u503c\u3002\u4ed6\u8aaa\uff1a\u300c\u7576\u50c5\u5c0d\u5be6\u7528\u6307\u5357\uff08\u4f8b\u5982\u6700\u8fd1\u7684ACMG\u6307\u5357\uff09\u4e2d\u5305\u542b\u7684\u7570\u5e38\u9032\u884c\u6aa2\u6e2c\u6642\uff0c\u7121\u9700\u5c0d\u6aa2\u6e2c\u662f\u5426\u9069\u7576\u9032\u884c\u9577\u671f\u8003\u616e\u3002\u300d\u300c\u53e6\u4e00\u65b9\u9762\uff0cNIPT\u6e2c\u8a66\u82e5\u4f7f\u7528\u5176\u4ed6\u8f03\u4e0d\u6210\u719f\u7684\u6280\u8853\u6216\u6c92\u6709\u5ee3\u6cdb\u4f7f\u7528\uff0c\u5c07\u4e0d\u53ef\u907f\u514d\u5730\u7522\u751f\u8f03\u9ad8\u7684\u6210\u672c\u4e26\u9700\u8981\u66f4\u591a\u7684\u52aa\u529b\u3002\u300d<\/p>\n<p class=\"text-align-justify\">\u8207\u6b64\u540c\u6642\uff0c\u5728\u65b0\u52a0\u5761\uff0c\u65b0\u52a0\u5761\u7e3d\u91ab\u9662\u7684\u91ab\u5e2b\u81ea2017\u5e74\u4ee5\u4f86\u5df2\u63d0\u4f9bNIPT\u529f\u80fd\uff0c\u4ed6\u5011\u7684\u60a3\u8005\u53cd\u61c9\u826f\u597d\u30022022\u5e74\u767c\u8868\u7684\u4e00\u9805\u672c\u5730\u7814\u7a76\u8868\u660e\uff0c\u60a3\u8005\u5c0d\u9019\u7a2e\u6aa2\u6e2c\u7684\u8f03\u9ad8\u6aa2\u51fa\u7387\u548c\u8f03\u4f4e\u7684\u5047\u967d\u6027\u7387\u8868\u793a\u8b9a\u8cde[1]\u3002\u91ab\u5e2b\u4e5f\u5f88\u9ad8\u8208\uff0c\u5c24\u5176\u662f\u56e0\u70baNIPT\u76f8\u8f03\u65bc\u5fc5\u9808\u5728\u598a\u5a20\u975e\u5e38\u7279\u5b9a\u7684\u6642\u9593\u9ede\u9032\u884c\u7684\u50b3\u7d71\u6aa2\u6e2c\uff0c\u6642\u9593\u9650\u5236\u8f03\u5c11\u3002<\/p>\n<p>\u65b0\u52a0\u5761\u7e3d\u91ab\u9662\u7684Tan Lay Kok\u91ab\u5e2b\u8868\u793a\uff1a\u300cNIPT\u662f\u4e00\u7a2e\u9700\u6c42\u4e0d\u65b7\u589e\u52a0\u7684\u6aa2\u6e2c\uff0c\u5be6\u9a57\u5ba4\u61c9\u8003\u91cf\u4ed6\u5011\u662f\u5426\u80fd\u5354\u52a9\u6eff\u8db3\u9019\u7a2e\u9700\u6c42\u3002\u300d\u300c\u9700\u8981\u8003\u616e\u7684\u95dc\u9375\u56e0\u7d20\u662f\u5be6\u9a57\u5ba4\u5c08\u696d\u77e5\u8b58\u3001\u5546\u696d\u751f\u5b58\u529b\u548c\u60a3\u8005\u5eab\u4e2d\u7684\u81e8\u5e8a\u9700\u6c42\u3002\u300d<\/p>\n<h2 class=\"text-align-justify\" style=\"font-family: Inter !important; font-weight: 500 !important; font-size: 28px !important; line-height: 36px !important; letter-spacing: 0px !important;\">\u89e3\u6c7a\u75c5\u60a3\u548c\u81e8\u5e8a\u91ab\u5e2b\u7684\u7591\u616e<\/h2>\n<p class=\"text-align-justify\">\u5373\u4f7f\u5728NIPT\u53ef\u7528\u6027\u7684\u65e9\u671f\u5e7e\u5e74\uff0c\u8a72\u6280\u8853\u4e5f\u8fc5\u901f\u53d6\u4ee3\u4e86\u5df2\u4f7f\u7528\u6578\u5341\u5e74\u7684\u50b3\u7d71\u4fb5\u5165\u6027\u6e2c\u8a66\u3002\u4f46NIPT\u4ecd\u4ee5\u76f8\u5c0d\u8f03\u5e74\u8f15\u7684\u6280\u8853\u70ba\u57fa\u790e\uff0c\u56e0\u6b64\u5728\u81e8\u5e8a\u53d7\u773e\u8207\u4e00\u822c\u5927\u773e\u4e2d\u9593\u906d\u9047\u6210\u9577\u6027\u7169\u60f1[2]\u3002<\/p>\n<p class=\"text-align-justify\">\u5c0dNIPT\u4f7f\u7528\u7684\u64d4\u6182\u901a\u5e38\u662f\u57fa\u65bc<a href=\"https:\/\/www.forbes.com\/sites\/ellenmatloff\/2022\/01\/06\/what-the-nytimes-got-wrong-on-prenatal-screening\/?sh=3521f9a737a7\" target=\"_blank\" rel=\"noopener\"> \u5c0d\u6b64\u985e\u6e2c\u8a66\u76ee\u7684<\/a> \u7684\u8aa4\u89e3[3]\u3002NIPT\u65e8\u5728\u4f5c\u70ba\u7be9\u67e5\u5de5\u5177\u800c\u975e\u8a3a\u65b7\u6e2c\u8a66\uff1b\u4efb\u4f55\u967d\u6027\u767c\u73fe\u61c9\u4f7f\u7528\u50b3\u7d71\u65b9\u6cd5\uff08\u8af8\u5982\u7f8a\u819c\u7a7f\u523a\u8853\u6216CVS\uff09\u9032\u884c\u5f8c\u7e8c\u6aa2\u67e5\u4ee5\u9032\u884c\u78ba\u8a8d\u3002\u96d6\u7136\u9019\u662f\u81e8\u5e8a\u5be6\u9a57\u5ba4\u793e\u7fa4\u7684\u5e38\u8b58\uff0c\u4f46\u8a31\u591a\u7522\u79d1\u91ab\u5e2b\u548c\u5168\u79d1\u91ab\u5e2b\u4e26\u672a\u5b8c\u5168\u77ad\u89e3\u9019\u4e00\u9ede\uff0c\u6216\u8005\u53ef\u80fd\u5728\u6e2c\u8a66\u524d\u672a\u80fd\u5411\u60a3\u8005\u5145\u5206\u89e3\u91cb\u3002\u5982\u679c\u6c92\u6709\u8a72\u6709\u50f9\u503c\u7684\u80cc\u666f\uff0c\u5047\u967d\u6027\u53ef\u80fd\u88ab\u60a3\u8005\u8996\u70ba\u707d\u96e3\u6027\u7684\u3002<\/p>\n<p class=\"text-align-justify\">\u9019\u4e9b\u5047\u967d\u6027\u5f80\u5f80\u4f86\u81ea\u8d85\u51faACMG\u6307\u5357\u7684\u6e2c\u8a66\u9818\u57df\uff0c\u8af8\u5982\u5fae\u7f3a\u5931\u3002\u5118\u7ba1\u627f\u8afe\u6e2c\u8a66\u66f4\u591a\u6a19\u9776\u7684NIPT\u7522\u54c1\u53ef\u80fd\u5c0d\u75c5\u60a3\u548c\u91ab\u5e2b\u90fd\u5f88\u6709\u5438\u5f15\u529b\uff0c\u4f46\u9078\u64c7\u50c5\u7be9\u6aa2\u76ee\u524dACMG\u6a19\u9776\u7684\u6e2c\u8a66\uff08\u7b2c21\u300118\u548c13\u4e09\u9ad4\u4ee5\u53ca\u6027\u67d3\u8272\u9ad4\u7570\u5e38\uff09\u53ef\u4ee5\u8b93\u81e8\u5e8a\u5be6\u9a57\u5ba4\u5718\u968a\u5831\u544a\u6700\u76f8\u95dc\u548c\u53ef\u9760\u7684\u7d50\u679c\uff0c\u800c\u4e0d\u6703\u9032\u5165\u6e96\u78ba\u6027\u8f03\u4f4e\u7684\u554f\u984c\u9818\u57df\u4ee5\u53ca\u96a8\u4e4b\u800c\u4f86\u7684\u53ef\u80fd\u7684\u8ffd\u8e64\u6e2c\u8a66\u885d\u64ca\u3002<\/p>\n<p class=\"text-align-justify\"><em>\u53c3\u8003\u6587\u737b\uff1a<\/em> <a href=\"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.6239\" target=\"_blank\" rel=\"noopener\">[1]<\/a>\u00a0Sim\uff0cW.S.\u7b49\u4eba(2022) \u300cPreferences for a non-invasive prenatal test as first-line screening for Down Syndrome\uff1aA discrete choice experiment\u300d\uff0cPrenatal Diagnosis\uff0c42(11)\uff0cpp. 1368-1376\u3002 doi\uff1a10.1002\/pd.6239\u3002<\/p>\n<p class=\"text-align-justify\"><a href=\"https:\/\/link.springer.com\/article\/10.1007\/s11019-023-10143-1\" target=\"_blank\" rel=\"noopener\">[2]<\/a>\u00a0Baldus\uff0cM.(2023) \u300c\u9ad8\u4f30\u7684\u6280\u8853-\u4f4e\u4f30\u7684\u5f8c\u679c\u300d -\u5c0d\u975e\u4fb5\u5165\u6027\u7522\u524d\u6aa2\u6e2c(nipts)\u8655\u7406\u4e2d\u7684\u98a8\u96aa\u3001\u502b\u7406\u885d\u7a81\u548c\u793e\u6703\u5dee\u7570\u7684\u53cd\u601d-\u91ab\u5b78\u3001\u91ab\u7642\u4fdd\u5065\u548c\u54f2\u5b78\uff0cSpringerLink\u3002\u8acb\u9020\u8a2a\uff1ahttps:\/\/link.springer.com\/article\/10.1007\/s11019-023-10143-1\u3002<\/p>\n<p class=\"text-align-justify\"><a href=\"https:\/\/www.forbes.com\/sites\/ellenmatloff\/2022\/01\/06\/what-the-nytimes-got-wrong-on-prenatal-screening\/?sh=418f1e8537a7\" target=\"_blank\" rel=\"noopener\">[3]<\/a>\u00a0Matloff\uff0cE.(2022) NYTimes\u5728\u7522\u524d\u7be9\u67e5\u4e2d\u72af\u4e86\u4ec0\u9ebc\u932f\uff0c\u5bcc\u6bd4\u58eb\u3002\u8acb\u9020\u8a2a\uff1ahttps:\/\/www.forbes.com\/sites\/ellenmatloff\/2022\/01\/06\/what-the-nytimes-got-wrong-on-prenatal-screening\/?sh=418f1e8537a7\u3002<\/p>\n","protected":false},"excerpt":{"rendered":"<p>\u975e\u4fb5\u5165\u6027\u7522\u524d\u6aa2\u6e2c(NIPT)\u7684\u8208\u8d77\u662f\u8fd1\u5e7e\u5341\u5e74\u4f86\u5be6\u9a57\u5ba4\u91ab\u5b78\u7684\u6700\u5927\u6210\u529f\u6848\u4f8b\u4e4b\u4e00\u3002\u5c0d\u65bc\u8a31\u591a\u61f7\u5b55\u7684\u75c5\u4eba\uff0c\u4ee5\u7121\u7d30\u80de\u80ce\u76e4DNA\u70ba\u6a19\u9776\u7684\u7c21\u55ae\u8840\u6db2\u6e2c\u8a66\uff0c\u53ef\u986f\u8457\u6e1b\u5c11\u5c0d\u4fb5\u5165\u6027\u66ff\u4ee3\u54c1(\u4f8b\u5982\u7f8a\u819c\u7a7f\u523a\u8853\u6216\u7d68\u6bdb\u819c\u7d68\u6bdb\u53d6\u6a23(CVS))\u7684\u9700\u6c42\uff0c\u6b64\u985e\u66ff\u4ee3\u54c1\u6703\u5f15\u5165\u5f88\u5c0f\u4f46\u771f\u5be6\u7684\u6d41\u7522\u98a8\u96aa\u3002 \u5982\u679c\u60a8\u7684\u81e8\u5e8a\u5be6\u9a57\u5ba4\u670d\u52d9\u5c0d\u8c61\u70ba\u90e8\u5206\u75c5\u60a3\uff0c\u5982\u679c\u6aa2\u6e2c\u5c08\u6848\u5c1a\u672a\u5be6\u65bd\uff0cNIPT\u662f\u589e\u52a0\u5230\u6aa2\u6e2c\u5c08\u6848\u7684\u91cd\u8981\u529f\u80fd\u3002\u7f8e\u570b\u91ab\u5b78\u907a\u50b3\u5b78\u53ca\u57fa\u56e0\u9ad4\u5b78\u6703(ACMG)\u6700\u8fd1\u5c0d\u7522\u524d\u7be9\u6aa2\u6307\u5357\u7684\u66f4\u65b0\u53ef\u80fd\u6703\u589e\u52a0\u5168\u4e16\u754c\uff08\u5305\u62ec\u4e9e\u592a\u5730\u5340\uff09\u5c0dNIPT\u7684\u9700\u6c42\u3002 \u6839\u64da\u53bb\u5e74\u5e95\u767c\u4f48\u7684 \u9019\u4e9b\u6307\u5357\uff0cACMG\u63d0\u51fa\u300c\u5f37\u70c8\u5efa\u8b70\u300d\uff0c\u6240\u6709\u651c\u5e36\u55ae\u80de\u80ce\u6216\u96d9\u80de\u80ce\u7684\u5b55\u5a66\u61c9\u4f7f\u7528NIPT\u4ee3\u66ff\u50b3\u7d71\u7684\u7522\u524d\u7be9\u6aa2\u65b9\u6cd5\u9032\u884c\u6aa2\u6e2c\u3002\u5177\u9ad4\u800c\u8a00\uff0cACMG\u5efa\u8b70NIPT\u4f5c\u70ba\u7be9\u9078\u4ee5\u4e0b\u7269\u8cea\u7684\u9996\u9078\u65b9\u6cd5\uff1a 21\u4e09\u9ad4\uff08\u5510\u6c0f\u75c7\u5019\u7fa4\uff09 \u7b2c18\u865f\u9ad4\u67d3\u8272\u9ad4\u4e09\u689d\uff08Edwards\u6c0f\u75c7\u5019\u7fa4\uff09 \u7b2c13\u865f\u9ad4\u67d3\u8272\u9ad4\u4e09\u689d\uff08Patau\u6c0f\u75c7\u5019\u7fa4\uff09 \u6027\u67d3\u8272\u9ad4\u7570\u5e38\/\u975e\u6574\u500d\u6027 \u5c0d\u65bc\u9019\u4e9b\u75c5\u6cc1\u4e2d\u4e4b\u6bcf\u4e00\u8005\uff0cACMG\u4f9d\u8cf4\u986f\u793a\u5075\u6e2c\u7387\u6975\u4f73\u7684\u8b49\u64da\u2014\u9ad8\u65bc98%\u768418\u548c21\u4e09\u9ad4\u4ee5\u53ca\u6027\u67d3\u8272\u9ad4\u7570\u5e38\uff0c\u800c13\u4e09\u9ad4\u7684\u5075\u6e2c\u7387\u7d04\u70ba93%\u3002 \u96d6\u7136\u6307\u5357\u6307\u51fa\uff0c\u5176\u4ed6\u7be9\u9078\u6a19\u9776\uff0c\u4f8b\u5982\u5fae\u7f3a\u5931\u548c\u7f55\u898b\u7684\u5e38\u67d3\u8272\u9ad4\u4e09\u9ad4\u67d3\u8272\u9ad4\u662f\u672a\u4f86\u7684\u95dc\u6ce8\u9818\u57df\uff0c\u4f46ACMG\u5c1a\u672a\u5411\u6240\u6709\u5b55\u5a66\u767c\u4f48\u70ba\u6b64\u76ee\u7684\u4f7f\u7528NIPT\u7684\u5efa\u8b70\u3002 \u97d3\u570b\u53ca\u65b0\u52a0\u5761\u5c0dNIPT\u4e4b\u5438\u6536 \u5728\u63d0\u4f9b\u7528\u65bc\u7522\u524d\u7be9\u6aa2\u4e4b\u9776\u5411NIPT\u7522\u54c1\u7684\u5be6\u9a57\u5ba4\u4e2d\uff0c\u9019\u4e9b\u6aa2\u6e2c\u53d7\u5230\u91ab\u5e2b\u548c\u75c5\u60a3\u7684\u6b61\u8fce\u3002\u4f8b\u5982\uff0c\u5728\u97d3\u570b\u7684\u9996\u723e\u81e8\u5e8a\u5be6\u9a57\u5ba4\uff0cMikyeong Lee\u535a\u58eb\u548cBryan Lee\u535a\u58eb\u770b\u5230\u5c0dNIPT\u7d50\u679c\u7684\u9700\u6c42\u5982\u6b64\u4e4b\u5927\uff0c\u4ee5\u81f3\u65bc\u4ed6\u5011\u57282021\u5e74\u8f49\u5411\u4e00\u7a2e\u7cfb\u7d71\uff0c\u4f7f\u4ed6\u5011\u80fd\u5920\u5728\u81ea\u5df1\u7684\u5be6\u9a57\u5ba4\u4e2d\u9032\u884c\u7be9\u9078\uff0c\u800c\u7121\u9700\u5ee3\u6cdb\u7684\u8cc7\u8a0a\u5b78\u652f\u63f4\u6216\u6602\u8cb4\u7684\u5b9a\u5e8f\u5100\u5668\u3002 \u5728\u97d3\u570b\uff0c\u5b55\u5a66\u7684\u5e73\u5747\u5e74\u9f61\u4e00\u76f4\u5728\u7a69\u6b65\u4e0a\u5347\uff1b\u5982\u4eca\uff0c\u81f3\u5c11\u4e09\u5206\u4e4b\u4e00\u7684\u6e96\u5abd\u5abd\u88ab\u8a8d\u70ba\u5177\u6709\u9ad8\u98a8\u96aa\u3002\u9019\u4f7f\u5f97NIPT\u6210\u70ba\u53ef\u80fd\u589e\u52a0\u98a8\u96aa\u7684\u4fb5\u5165\u6027\u6e2c\u8a66\u7684\u95dc\u9375\u66ff\u4ee3\u65b9\u6848\u3002 Mikyeong Lee\u535a\u58eb\u8aaa\uff1a\u300c\u5be6\u969b\u4e0a\u6bcf\u500b\u5b30\u5152\u90fd\u662f\u73cd\u8cb4\u7684\u3002\u300c\u96d6\u7136NIPT\u4e0d\u662f\u4e00\u7a2e\u8a3a\u65b7\u6027\u6aa2\u6e2c\uff0c\u4f46\u5b83\u6703\u7be9\u9664\u4f4e\u98a8\u96aa\u61f7\u5b55\uff0c\u56e0\u6b64\u91ab\u5e2b\u53ef\u4ee5\u5728\u5c0d\u67d3\u8272\u9ad4\u7570\u5e38\u9032\u884c\u4fb5\u5165\u6027\u6aa2\u6e2c\u6642\u63d0\u4f9b\u4f9d\u64da\u3002\u7be9\u9078\u6642\u7372\u5f97\u4f4e\u98a8\u96aa\u7d50\u679c\u5c07\u5927\u5927\u964d\u4f4e\u5b55\u5a66\u5c0d\u80ce\u5152\u5065\u5eb7\u7684\u4efb\u4f55\u58d3\u529b\u3002\u300d Bryan Lee\u91ab\u5e2b\u6ce8\u610f\u5230\u9078\u64c7\u50c5\u9650\u65bc\u7531ACMG\u6216\u5176\u4ed6\u5c08\u696d\u6307\u5357\u63a8\u85a6\u7684\u76ee\u6a19\u7684\u6aa2\u6e2c\u7684\u50f9\u503c\u3002\u4ed6\u8aaa\uff1a\u300c\u7576\u50c5\u5c0d\u5be6\u7528\u6307\u5357\uff08\u4f8b\u5982\u6700\u8fd1\u7684ACMG\u6307\u5357\uff09\u4e2d\u5305\u542b\u7684\u7570\u5e38\u9032\u884c\u6aa2\u6e2c\u6642\uff0c\u7121\u9700\u5c0d\u6aa2\u6e2c\u662f\u5426\u9069\u7576\u9032\u884c\u9577\u671f\u8003\u616e\u3002\u300d\u300c\u53e6\u4e00\u65b9\u9762\uff0cNIPT\u6e2c\u8a66\u82e5\u4f7f\u7528\u5176\u4ed6\u8f03\u4e0d\u6210\u719f\u7684\u6280\u8853\u6216\u6c92\u6709\u5ee3\u6cdb\u4f7f\u7528\uff0c\u5c07\u4e0d\u53ef\u907f\u514d\u5730\u7522\u751f\u8f03\u9ad8\u7684\u6210\u672c\u4e26\u9700\u8981\u66f4\u591a\u7684\u52aa\u529b\u3002\u300d 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