{"id":145651,"date":"2023-05-31T05:29:45","date_gmt":"2023-05-31T05:29:45","guid":{"rendered":"https:\/\/labinsights.com\/acf_article\/%e5%85%a8%e6%96%b0-acmg-%e6%8c%87%e5%8d%97%e5%b0%86%e5%bd%b1%e5%93%8d-nipt-%e5%9c%a8%e4%ba%9a%e5%a4%aa%e5%9c%b0%e5%8c%ba%e7%9a%84%e5%ba%94%e7%94%a8\/"},"modified":"2026-01-22T04:38:35","modified_gmt":"2026-01-22T04:38:35","slug":"new-acmg-guidelines-shape-nipt-uptake-in-asia-pacific","status":"publish","type":"acf_article","link":"https:\/\/labinsights.com\/zhcn\/disease-area\/rare-diseases\/new-acmg-guidelines-shape-nipt-uptake-in-asia-pacific\/","title":{"rendered":"\u5168\u65b0 ACMG \u6307\u5357\u5c06\u5f71\u54cd NIPT \u5728\u4e9a\u592a\u5730\u533a\u7684\u5e94\u7528"},"content":{"rendered":"<p class=\"text-align-justify\">\u65e0\u521b\u4ea7\u524d\u68c0\u6d4b (NIPT) \u7684\u5174\u8d77\uff0c\u662f\u8fd1\u51e0\u5341\u5e74\u6765\u5b9e\u9a8c\u5ba4\u533b\u5b66\u9886\u57df\u6700\u6210\u529f\u7684\u6848\u4f8b\u4e4b\u4e00\u3002\u5bf9\u4e8e\u8bb8\u591a\u598a\u5a20\u60a3\u8005\u800c\u8a00\uff0c\u9488\u5bf9\u65e0\u7ec6\u80de\u80ce\u76d8 DNA \u7684\u7b80\u5355\u8840\u6db2\u68c0\u6d4b\uff0c\u53ef\u4ee5\u663e\u8457\u51cf\u5c11\u5bf9\u4fb5\u5165\u6027\u68c0\u67e5\uff08\u4f8b\u5982\u7f8a\u819c\u7a7f\u523a\u672f\u6216\u7ed2\u6bdb\u819c\u53d6\u6837 (CVS)\uff09\u7684\u9700\u6c42\uff0c\u800c\u540e\u8005\u867d\u98ce\u9669\u8f83\u5c0f\uff0c\u4f46\u4ecd\u4f1a\u589e\u52a0\u5c0f\u4ea7\u7684\u53ef\u80fd\u6027\u3002<\/p>\n<p class=\"text-align-justify\">\u5982\u679c\u60a8\u7684\u4e34\u5e8a\u5b9e\u9a8c\u5ba4\u670d\u52a1\u5bf9\u8c61\u4e3a\u5b55\u5987\uff0c\u5982\u679c\u5c1a\u672a\u5b9e\u65bd NIPT\uff0c\u90a3\u4e48\u5c06\u5176\u7eb3\u5165\u68c0\u6d4b\u9879\u76ee\u76ee\u5f55\u5c06\u975e\u5e38\u91cd\u8981\u3002 \u7f8e\u56fd\u533b\u5b66\u9057\u4f20\u5b66\u548c\u57fa\u56e0\u7ec4\u5b66\u4f1a (ACMG) \u8fd1\u671f\u5bf9\u4ea7\u524d\u7b5b\u67e5\u6307\u5357\u8fdb\u884c\u4e86\u66f4\u65b0\uff0c\u9884\u8ba1\u5c06\u4f1a\u63d0\u5347\u5168\u7403\uff08\u5305\u62ec\u4e9a\u592a\u5730\u533a\uff09\u5bf9 NIPT \u7684\u9700\u6c42\u3002<\/p>\n<p class=\"text-align-justify\">\u6839\u636e\u53bb\u5e74\u5e95\u53d1\u5e03\u7684<a href=\"https:\/\/www.sciencedirect.com\/science\/article\/pii\/S1098360022010048?via%3Dihub\" target=\"_blank\" rel=\"noopener\">\u6307\u5357<\/a>\uff0cACMG \u63d0\u51fa\u201c\u5f3a\u70c8\u5efa\u8bae\u201d\uff1a\u6240\u6709\u5355\u80ce\u6216\u53cc\u80ce\u598a\u5a20\u7684\u5b55\u5987\uff0c\u90fd\u5e94\u4f18\u5148\u9009\u62e9 NIPT\uff0c\u800c\u975e\u4f20\u7edf\u7684\u4ea7\u524d\u7b5b\u67e5\u65b9\u6cd5\u3002\u5177\u4f53\u800c\u8a00\uff0cACMG \u5efa\u8bae\u9996\u9009 NIPT \u6765\u7b5b\u67e5\uff1a<\/p>\n<ul>\n<li class=\"text-align-justify\">21 \u4e09\u4f53\uff08\u5510\u6c0f\u7efc\u5408\u5f81\uff09<\/li>\n<li class=\"text-align-justify\">18 \u4e09\u4f53\uff08\u7231\u5fb7\u534e\u6c0f\u7efc\u5408\u5f81\uff09<\/li>\n<li class=\"text-align-justify\">13 \u4e09\u4f53\uff08\u5df4\u9676\u6c0f\u7efc\u5408\u5f81\uff09<\/li>\n<li class=\"text-align-justify\">\u6027\u67d3\u8272\u4f53\u5f02\u5e38\/\u975e\u6574\u500d\u4f53<\/li>\n<\/ul>\n<p class=\"text-align-justify\">\u5bf9\u4e8e\u4e0a\u8ff0\u5404\u7c7b\u72b6\u51b5\uff0cACMG \u4f9d\u636e\u73b0\u6709\u8bc1\u636e\uff0c\u8ba4\u4e3a\u68c0\u51fa\u7387\u975e\u5e38\u7406\u60f3\uff1a18 \u4e09\u4f53\u300121 \u4e09\u4f53\u53ca\u6027\u67d3\u8272\u4f53\u5f02\u5e38\u7684\u68c0\u51fa\u7387\u5747\u9ad8\u4e8e 98%\uff0c\u800c 13 \u4e09\u4f53\u7684\u68c0\u51fa\u7387\u7ea6\u4e3a 93%\u3002<\/p>\n<p class=\"text-align-justify\">\u867d\u7136\u6307\u5357\u6307\u51fa\uff0c\u5fae\u7f3a\u5931\u548c\u7f55\u89c1\u5e38\u67d3\u8272\u4f53\u4e09\u4f53\u7b49\u989d\u5916\u7b5b\u67e5\u9776\u6807\u5c06\u662f\u672a\u6765\u5173\u6ce8\u7684\u91cd\u70b9\u9886\u57df\uff0c\u4f46 ACMG \u5c1a\u672a\u5efa\u8bae\u5728\u6240\u6709\u5b55\u5987\u4e2d\u666e\u904d\u4f7f\u7528 NIPT \u6765\u8fdb\u884c\u6b64\u7c7b\u7b5b\u67e5\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;\">\u97e9\u56fd\u548c\u65b0\u52a0\u5761\u5bf9 NIPT \u7684\u5e94\u7528\u60c5\u51b5<\/h2>\n<p class=\"text-align-justify\">\u5728\u63d0\u4f9b\u9776\u5411 NIPT \u4ea7\u524d\u7b5b\u67e5\u9879\u76ee\u7684\u5b9e\u9a8c\u5ba4\u4e2d\uff0c\u8fd9\u7c7b\u68c0\u6d4b\u53d7\u5230\u533b\u751f\u548c\u60a3\u8005\u7684\u5e7f\u6cdb\u6b22\u8fce\u3002\u4f8b\u5982\uff0c\u5728\u97e9\u56fd\u7684\u9996\u5c14\u4e34\u5e8a\u5b9e\u9a8c\u5ba4\uff0cMikyeong Lee \u535a\u58eb\u548c Bryan Lee \u535a\u58eb\u53d1\u73b0\u5bf9 NIPT \u68c0\u67e5\u7ed3\u679c\u7684\u9700\u6c42\u975e\u5e38\u65fa\u76db\uff0c\u56e0\u6b64\u5728 2021 \u5e74\uff0c\u4ed6\u4eec\u8f6c\u800c\u91c7\u7528\u4e00\u5957\u7cfb\u7edf\uff0c\u5141\u8bb8\u4ed6\u4eec\u5728\u5176\u5179\u6709\u5b9e\u9a8c\u5ba4\u5185\u5b8c\u6210\u7b5b\u67e5\uff0c\u800c\u65e0\u9700\u4f9d\u8d56\u590d\u6742\u7684\u751f\u7269\u4fe1\u606f\u5b66\u652f\u6301\u6216\u6602\u8d35\u7684\u6d4b\u5e8f\u4eea\u5668\u3002<\/p>\n<p class=\"text-align-justify\">\u5728\u97e9\u56fd\uff0c\u5b55\u5987\u7684\u5e73\u5747\u5e74\u9f84\u6301\u7eed\u4e0a\u5347\uff1b\u5982\u4eca\uff0c\u81f3\u5c11\u6709\u4e09\u5206\u4e4b\u4e00\u7684\u51c6\u5988\u5988\u88ab\u89c6\u4e3a\u9ad8\u5371\u5b55\u5987\u3002\u8fd9\u4e5f\u4f7f NIPT \u6210\u4e3a\u66ff\u4ee3\u8fd9\u4e9b\u53ef\u80fd\u589e\u52a0\u98ce\u9669\u7684\u4fb5\u5165\u6027\u68c0\u67e5\u7684\u91cd\u8981\u624b\u6bb5\u3002<\/p>\n<p class=\"text-align-justify\">Mikyeong Lee \u535a\u58eb\u8868\u793a\uff1a\u201c\u6bcf\u4e00\u4e2a\u5b9d\u5b9d\u90fd\u65e0\u6bd4\u73cd\u8d35\u3002\u201d\u201c\u867d\u7136 NIPT \u4e0d\u662f\u8bca\u65ad\u6027\u68c0\u6d4b\uff0c\u4f46\u5b83\u53ef\u4ee5\u5e2e\u52a9\u6392\u9664\u5927\u90e8\u5206\u4f4e\u98ce\u9669\u598a\u5a20\uff0c\u4ece\u800c\u4f7f\u533b\u751f\u5728\u5bf9\u7591\u4f3c\u67d3\u8272\u4f53\u5f02\u5e38\u5b9e\u65bd\u4fb5\u5165\u6027\u68c0\u67e5\u65f6\u6709\u66f4\u660e\u786e\u7684\u4f9d\u636e\u3002 \u5728\u7b5b\u67e5\u4e2d\u83b7\u5f97\u4f4e\u98ce\u9669\u7ed3\u679c\uff0c\u80fd\u591f\u5927\u5927\u7f13\u89e3\u5b55\u5987\u5bf9\u80ce\u513f\u5065\u5eb7\u7684\u7126\u8651\u548c\u5fc3\u7406\u538b\u529b\u3002\u201d<\/p>\n<p class=\"text-align-justify\">Bryan Lee \u533b\u751f\u6307\u51fa\uff0c\u9009\u62e9\u5c06\u68c0\u6d4b\u9776\u6807\u9650\u5b9a\u5728 ACMG \u6216\u5176\u4ed6\u4e13\u4e1a\u6307\u5357\u6240\u63a8\u8350\u8303\u56f4\u5185\uff0c\u5177\u6709\u91cd\u8981\u4ef7\u503c\u3002\u4ed6\u8868\u793a\uff1a\u201c\u5982\u679c\u53ea\u68c0\u6d4b\u6700\u65b0 ACMG \u6307\u5357\u7b49\u4e34\u5e8a\u5b9e\u8df5\u6307\u5357\u4e2d\u6240\u5217\u7684\u5f02\u5e38\uff0c\u5c31\u65e0\u9700\u518d\u53cd\u590d\u659f\u914c\u68c0\u6d4b\u662f\u5426\u5408\u9002\u3002\u201d\u201c\u53e6\u4e00\u65b9\u9762\uff0c\u82e5 NIPT \u68c0\u6d4b\u91c7\u7528\u5b9e\u8bc1\u6027\u8f83\u4f4e\u7684\u6280\u672f\u548c\u5c1a\u672a\u5e7f\u6cdb\u5e94\u7528\u7684\u6280\u672f\uff0c\u5219\u96be\u514d\u4f1a\u5e26\u6765\u66f4\u9ad8\u7684\u6210\u672c\uff0c\u5e76\u9700\u8981\u6295\u5165\u66f4\u591a\u5de5\u4f5c\u3002\u201d<\/p>\n<p class=\"text-align-justify\">\u4e0e\u6b64\u540c\u65f6\uff0c\u5728\u65b0\u52a0\u5761\uff0c\u65b0\u52a0\u5761\u603b\u533b\u9662\u7684\u533b\u751f\u81ea 2017 \u5e74\u4ee5\u6765\u5df2\u63d0\u4f9b NIPT \u68c0\u6d4b\u670d\u52a1\uff0c\u4ed6\u4eec\u7684\u60a3\u8005\u53cd\u9988\u826f\u597d\u30022022 \u5e74\u53d1\u8868\u7684\u4e00\u9879\u672c\u5730\u7814\u7a76\u8868\u660e\uff0c\u60a3\u8005\u8ba4\u53ef\u8fd9\u79cd\u68c0\u6d4b\u66f4\u9ad8\u7684\u68c0\u51fa\u7387\u548c\u66f4\u4f4e\u7684\u5047\u9633\u6027\u7387 [1]\u3002\u533b\u751f\u4eec\u4e5f\u666e\u904d\u8868\u793a\u6ee1\u610f\uff0c\u5c24\u5176\u662f\u56e0\u4e3a\u4e0e\u5fc5\u987b\u5728\u598a\u5a20\u7279\u5b9a\u65f6\u6bb5\u8fdb\u884c\u7684\u5e38\u89c4\u68c0\u6d4b\u76f8\u6bd4\uff0cNIPT \u65f6\u95f4\u9650\u5236\u66f4\u5c11\u4e14\u66f4\u7075\u6d3b\u3002<\/p>\n<p> \u65b0\u52a0\u5761\u603b\u533b\u9662\u7684\u00a0Tan Lay Kok\u00a0\u535a\u58eb\u6307\u51fa\uff1a\u201cNIPT \u7684\u9700\u6c42\u6b63\u5728\u4e0d\u65ad\u589e\u957f\uff0c\u5b9e\u9a8c\u5ba4\u5e94\u5f53\u8003\u8651\u662f\u5426\u6765\u5e2e\u52a9\u6ee1\u8db3\u8fd9\u4e00\u9700\u6c42\u3002\u201d\u201c\u9700\u8981\u8003\u8651\u7684\u5173\u952e\u56e0\u7d20\u662f\u5b9e\u9a8c\u5ba4\u4e13\u4e1a\u77e5\u8bc6\u3001\u5546\u4e1a\u53ef\u884c\u6027\u548c\u60a3\u8005\u5e93\u4e2d\u7684\u4e34\u5e8a\u9700\u6c42\u3002\u201d<\/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\u51b3\u60a3\u8005\u548c\u4e34\u5e8a\u533b\u751f\u7684\u987e\u8651<\/h2>\n<p class=\"text-align-justify\">\u5373\u4f7f\u5728 NIPT \u521a\u521a\u95ee\u4e16\u7684\u65e9\u671f\u51e0\u5e74\uff0c\u8fd9\u9879\u6280\u672f\u4e5f\u8fc5\u901f\u53d6\u4ee3\u4e86\u6cbf\u7528\u6570\u5341\u5e74\u7684\u4f20\u7edf\u4fb5\u5165\u6027\u68c0\u67e5\u3002\u4f46 NIPT\u00a0\u4ecd\u7136\u662f\u4e00\u9879\u76f8\u5bf9\u4e0d\u6210\u719f\u7684\u6280\u672f\uff0c\u56e0\u6b64\u5728\u4e34\u5e8a\u533b\u751f\u7fa4\u4f53\u548c\u666e\u901a\u516c\u4f17\u4e2d\uff0c\u5176\u63a8\u5e7f\u8fc7\u7a0b\u4e2d\u4e0d\u53ef\u907f\u514d\u5730\u7ecf\u5386\u4e86\u4e00\u4e9b\u53d1\u5c55\u4e2d\u7684\u9635\u75db\u548c\u6311\u6218 [2]\u3002<\/p>\n<p class=\"text-align-justify\">\u5bf9 NIPT \u4f7f\u7528\u7684\u62c5\u5fe7\uff0c\u5f80\u5f80\u6e90\u4e8e<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\">\u5bf9\u8fd9\u7c7b\u68c0\u6d4b\u76ee\u7684<\/a>\u7684\u8bef\u89e3 [3]\u3002NIPT \u65e8\u5728\u4f5c\u4e3a\u7b5b\u67e5\u5de5\u5177\uff0c\u800c\u975e\u8bca\u65ad\u6027\u68c0\u6d4b\uff1b\u4efb\u4f55\u9633\u6027\u7ed3\u679c\u90fd\u5e94\u901a\u8fc7\u7f8a\u819c\u7a7f\u523a\u672f\u6216\u7ed2\u6bdb\u819c\u53d6\u6837 (CVS) \u7b49\u4f20\u7edf\u65b9\u6cd5\u8fdb\u4e00\u6b65\u786e\u8bca\u3002\u867d\u7136\u8fd9\u662f\u4e34\u5e8a\u5b9e\u9a8c\u5ba4\u793e\u533a\u7684\u5e38\u8bc6\uff0c\u4f46\u8bb8\u591a\u4ea7\u79d1\u533b\u751f\u548c\u5168\u79d1\u533b\u751f\u5e76\u4e0d\u5b8c\u5168\u4e86\u89e3\uff0c\u6216\u53ef\u80fd\u5728\u68c0\u6d4b\u524d\u672a\u80fd\u5411\u60a3\u8005\u5145\u5206\u8bf4\u660e\u3002\u5982\u679c\u7f3a\u4e4f\u8fd9\u4e9b\u91cd\u8981\u7684\u80cc\u666f\u4fe1\u606f\uff0c\u60a3\u8005\u5f80\u5f80\u4f1a\u628a\u5047\u9633\u6027\u7ed3\u679c\u89c6\u4e3a\u4e00\u573a\u707e\u96be\u3002<\/p>\n<p class=\"text-align-justify\">\u8fd9\u4e9b\u5047\u9633\u6027\u5f80\u5f80\u6765\u6e90\u4e8e\u8d85\u51fa ACMG \u6307\u5357\u89c4\u5b9a\u8303\u56f4\u7684\u9879\u76ee\uff0c\u4f8b\u5982\u67d3\u8272\u4f53\u5fae\u7f3a\u5931\u3002\u5c3d\u7ba1\u5ba3\u79f0\u53ef\u68c0\u6d4b\u66f4\u591a\u9776\u6807\u7684 NIPT \u4ea7\u54c1\u5bf9\u60a3\u8005\u548c\u533b\u751f\u90fd\u9887\u5177\u5438\u5f15\u529b\uff0c\u4f46\u9009\u62e9\u4ec5\u7b5b\u67e5 ACMG \u76ee\u524d\u9776\u6807\uff0821\u300118\u300113 \u53f7\u67d3\u8272\u4f53\u4e09\u4f53\u4ee5\u53ca\u6027\u67d3\u8272\u4f53\u5f02\u5e38\uff09\uff0c\u4fbf\u53ef\u4ee5\u8ba9\u4e34\u5e8a\u5b9e\u9a8c\u5ba4\u56e2\u961f\u62a5\u544a\u6700\u76f8\u5173\u3001\u6700\u53ef\u9760\u7684\u7ed3\u679c\uff0c\u907f\u514d\u8fdb\u5165\u51c6\u786e\u6027\u8f83\u4f4e\u7684\u68c0\u6d4b\u9886\u57df\uff0c\u5e76\u51cf\u5c11\u7531\u6b64\u5f15\u53d1\u7684\u4e00\u8fde\u4e32\u540e\u7eed\u68c0\u67e5\u3002<\/p>\n<p class=\"text-align-justify\"><em>\u53c2\u8003\u6587\u732e\uff1a<\/em> <a href=\"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.6239\" target=\"_blank\" rel=\"noopener\">[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<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, M.(2023) \u2018overestimated technology \u2013 underestimated consequences\u2019 \u2013 reflections on risks, ethical conflicts, and social disparities in the handling of non-invasive prenatal tests (nipts) &#8211; medicine, health care and philosophy, SpringerLink.Available at: https:\/\/link.springer.com\/article\/10.1007\/s11019-023-10143-1.<\/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, E.(2022) What the NYTimes got wrong on prenatal screening, Forbes.Available at: https:\/\/www.forbes.com\/sites\/ellenmatloff\/2022\/01\/06\/what-the-nytimes-got-wrong-on-prenatal-screening\/?sh=418f1e8537a7.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>\u65e0\u521b\u4ea7\u524d\u68c0\u6d4b (NIPT) \u7684\u5174\u8d77\uff0c\u662f\u8fd1\u51e0\u5341\u5e74\u6765\u5b9e\u9a8c\u5ba4\u533b\u5b66\u9886\u57df\u6700\u6210\u529f\u7684\u6848\u4f8b\u4e4b\u4e00\u3002\u5bf9\u4e8e\u8bb8\u591a\u598a\u5a20\u60a3\u8005\u800c\u8a00\uff0c\u9488\u5bf9\u65e0\u7ec6\u80de\u80ce\u76d8 DNA \u7684\u7b80\u5355\u8840\u6db2\u68c0\u6d4b\uff0c\u53ef\u4ee5\u663e\u8457\u51cf\u5c11\u5bf9\u4fb5\u5165\u6027\u68c0\u67e5\uff08\u4f8b\u5982\u7f8a\u819c\u7a7f\u523a\u672f\u6216\u7ed2\u6bdb\u819c\u53d6\u6837 (CVS)\uff09\u7684\u9700\u6c42\uff0c\u800c\u540e\u8005\u867d\u98ce\u9669\u8f83\u5c0f\uff0c\u4f46\u4ecd\u4f1a\u589e\u52a0\u5c0f\u4ea7\u7684\u53ef\u80fd\u6027\u3002 \u5982\u679c\u60a8\u7684\u4e34\u5e8a\u5b9e\u9a8c\u5ba4\u670d\u52a1\u5bf9\u8c61\u4e3a\u5b55\u5987\uff0c\u5982\u679c\u5c1a\u672a\u5b9e\u65bd NIPT\uff0c\u90a3\u4e48\u5c06\u5176\u7eb3\u5165\u68c0\u6d4b\u9879\u76ee\u76ee\u5f55\u5c06\u975e\u5e38\u91cd\u8981\u3002 \u7f8e\u56fd\u533b\u5b66\u9057\u4f20\u5b66\u548c\u57fa\u56e0\u7ec4\u5b66\u4f1a (ACMG) \u8fd1\u671f\u5bf9\u4ea7\u524d\u7b5b\u67e5\u6307\u5357\u8fdb\u884c\u4e86\u66f4\u65b0\uff0c\u9884\u8ba1\u5c06\u4f1a\u63d0\u5347\u5168\u7403\uff08\u5305\u62ec\u4e9a\u592a\u5730\u533a\uff09\u5bf9 NIPT \u7684\u9700\u6c42\u3002 \u6839\u636e\u53bb\u5e74\u5e95\u53d1\u5e03\u7684\u6307\u5357\uff0cACMG \u63d0\u51fa\u201c\u5f3a\u70c8\u5efa\u8bae\u201d\uff1a\u6240\u6709\u5355\u80ce\u6216\u53cc\u80ce\u598a\u5a20\u7684\u5b55\u5987\uff0c\u90fd\u5e94\u4f18\u5148\u9009\u62e9 NIPT\uff0c\u800c\u975e\u4f20\u7edf\u7684\u4ea7\u524d\u7b5b\u67e5\u65b9\u6cd5\u3002\u5177\u4f53\u800c\u8a00\uff0cACMG \u5efa\u8bae\u9996\u9009 NIPT \u6765\u7b5b\u67e5\uff1a 21 \u4e09\u4f53\uff08\u5510\u6c0f\u7efc\u5408\u5f81\uff09 18 \u4e09\u4f53\uff08\u7231\u5fb7\u534e\u6c0f\u7efc\u5408\u5f81\uff09 13 \u4e09\u4f53\uff08\u5df4\u9676\u6c0f\u7efc\u5408\u5f81\uff09 \u6027\u67d3\u8272\u4f53\u5f02\u5e38\/\u975e\u6574\u500d\u4f53 \u5bf9\u4e8e\u4e0a\u8ff0\u5404\u7c7b\u72b6\u51b5\uff0cACMG \u4f9d\u636e\u73b0\u6709\u8bc1\u636e\uff0c\u8ba4\u4e3a\u68c0\u51fa\u7387\u975e\u5e38\u7406\u60f3\uff1a18 \u4e09\u4f53\u300121 \u4e09\u4f53\u53ca\u6027\u67d3\u8272\u4f53\u5f02\u5e38\u7684\u68c0\u51fa\u7387\u5747\u9ad8\u4e8e 98%\uff0c\u800c 13 \u4e09\u4f53\u7684\u68c0\u51fa\u7387\u7ea6\u4e3a 93%\u3002 \u867d\u7136\u6307\u5357\u6307\u51fa\uff0c\u5fae\u7f3a\u5931\u548c\u7f55\u89c1\u5e38\u67d3\u8272\u4f53\u4e09\u4f53\u7b49\u989d\u5916\u7b5b\u67e5\u9776\u6807\u5c06\u662f\u672a\u6765\u5173\u6ce8\u7684\u91cd\u70b9\u9886\u57df\uff0c\u4f46 ACMG \u5c1a\u672a\u5efa\u8bae\u5728\u6240\u6709\u5b55\u5987\u4e2d\u666e\u904d\u4f7f\u7528 NIPT \u6765\u8fdb\u884c\u6b64\u7c7b\u7b5b\u67e5\u3002 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