{"id":36863,"date":"2021-09-09T00:18:13","date_gmt":"2021-09-08T16:18:13","guid":{"rendered":"https:\/\/case.ntu.edu.tw\/blog\/?p=36863"},"modified":"2021-08-19T11:24:02","modified_gmt":"2021-08-19T03:24:02","slug":"%e9%9d%9e%e4%be%b5%e5%85%a5%e6%80%a7%e7%9a%84%e8%83%8e%e5%85%92%e6%9f%93%e8%89%b2%e9%ab%94%e5%9f%ba%e5%9b%a0%e6%aa%a2%e6%b8%ac","status":"publish","type":"post","link":"https:\/\/case.ntu.edu.tw\/blog\/?p=36863","title":{"rendered":"\u975e\u4fb5\u5165\u6027\u7684\u80ce\u5152\u67d3\u8272\u9ad4\u57fa\u56e0\u6aa2\u6e2c"},"content":{"rendered":"

\"\"<\/strong><\/span><\/p>\n

\u975e\u4fb5\u5165\u6027\u7684\u80ce\u5152\u67d3\u8272\u9ad4\u57fa\u56e0\u6aa2\u6e2c\uff08NIPT\uff09\u5b9a\u4f4d\u70ba\u61f7\u5b55\u65e9\u671f\u7cbe\u6e96\u4e14\u5b89\u5168\u7684\u80ce\u5152\u67d3\u8272\u9ad4\u7be9\u6aa2\uff0c\u4e0d\u8ad6\u662f\u5426\u9ad8\u9f61\u7522\u5a66\uff0c\u53ea\u8981\u64d4\u6182\u4fb5\u5165\u6027\u6aa2\u6e2c\u7684\u98a8\u96aa\u3001\u9577\u91dd\u523a\u5165\u5b50\u5bae\u7684\u6050\u61fc\u6216\u80ce\u5152\u72c0\u6cc1\u4e0d\u5408\u9069\u9032\u884c\u7f8a\u819c\u7a7f\u523a\u8005\uff0c\u5747\u53ef\u5148\u8003\u616e\u9078\u64c7\u62bd\u8840\u65b9\u5f0f\u9032\u884c\u7be9\u6aa2\u3002\u5982\u679c\u6aa2\u6e2c\u5831\u544a\u986f\u793a\u70ba\u9ad8\u98a8\u96aa\uff0c\u518d\u9032\u884c\u7f8a\u819c\u7a7f\u523a\u67d3\u8272\u9ad4\u5206\u6790\u505a\u6700\u5f8c\u78ba\u8a3a\uff0c\u964d\u4f4e\u4e00\u958b\u59cb\u5c31\u76f4\u63a5\u9078\u64c7\u4fb5\u5165\u6027\u6aa2\u6e2c\u7684\u611f\u67d3\u6216\u6d41\u7522\u98a8\u96aa\u3002\u6211\u5011\u5728\u672c\u6587\u5c07\u5f15\u9818\u8b80\u8005\u8a8d\u8b58 NIPT\uff0c\u4e26\u63a2\u7d22\u5176\u76f8\u95dc\u81e8\u5e8a\u7814\u7a76\u3002<\/strong><\/span><\/p>\n

\u64b0\u6587\uff5c\u9673\u6df5\u9293<\/strong><\/p>\n

\u4ec0\u9ebc\u662f\u975e\u4fb5\u5165\u6027\u7684\u80ce\u5152\u67d3\u8272\u9ad4\u57fa\u56e0\u6aa2\u6e2c\uff1f<\/strong><\/span><\/p>\n

\u5728\u61f7\u5b55\u6642\u671f\uff0c\u5b55\u5a66\u7d93\u5e38\u9700\u8981\u900f\u904e\u975e\u4fb5\u5165\u6027\uff08\u62bd\u8840\uff09\u7684\u7b2c\u4e00\u5b55\u671f\u6bcd\u8840\u5510\u6c0f\u75c7\u7be9\u6aa2\uff08\u521d\u5510\uff09\u3001\u7b2c\u4e8c\u5b55\u671f\u6bcd\u8840\u5510\u6c0f\u75c7\u7be9\u6aa2\uff08\u4e2d\u5510\uff09\u53ca\u4fb5\u5165\u6027\u7684\u7d68\u6bdb\u819c\u63a1\u6a23\u3001\u7f8a\u819c\u7a7f\u523a\u7b49\u65b9\u6cd5\uff0c\u7528\u4ee5\u4e86\u89e3\u80ce\u5152\u67d3\u8272\u9ad4\u7684\u72c0\u6cc1\u3002\u4f46\u7919\u65bc\u521d\u5510\u3001\u4e2d\u5510\u6e96\u78ba\u5ea6\u50c5\u7d0480%\uff0c\u4e14\u50c5\u80fd\u5206\u6790\u5510\u6c0f\u75c7\uff0c\u800c\u7d68\u6bdb\u819c\u63a1\u6a23\u3001\u7f8a\u819c\u7a7f\u523a\u5247\u6709\u611f\u67d3\u6216\u5f15\u767c\u65e9\u7522\u6216\u6d41\u7522\u7684\u98a8\u96aa\uff0c\u4f7f\u5f97\u6709\u958b\u767c\u8f03\u5b89\u5168\u3001\u6e96\u78ba\u7684\u975e\u4fb5\u5165\u6027\u6aa2\u6e2c\u7684\u5fc5\u8981\u6027\u3002<\/p>\n

\u975e\u4fb5\u5165\u6027\u7684\u80ce\u5152\u67d3\u8272\u9ad4\u57fa\u56e0\u6aa2\u6e2c\uff08Non-Invasive Prenatal Test\/ Non-Invasive Fetal Trisomy\uff0cNIPT\/NIFTY\uff09\u62bd\u53d6\u5b55\u5a66\u7684\u5468\u908a\u8840\u6db2\uff0c\u4f7f\u7528\u6b21\u4e16\u4ee3\u57fa\u56e0\u5b9a\u5e8f\uff08Next generation sequencing\uff09\u5206\u6790\u80ce\u5152\u7684\u6e38\u96e2DNA\u5e8f\u5217\u4e26\u5224\u8b80\uff0c\u5b55\u671f10\u9031\u4ee5\u4e0a\u5373\u53ef\u7be9\u6aa2\u662f\u5426\u6709\u67d3\u8272\u9ad4\u7570\u5e38\u7684\u72c0\u6cc1\uff0c\u53ef\u4ee5\u4e00\u6b21\u6aa2\u67e5\u591a\u905494\u7a2e\u67d3\u8272\u9ad4\u7570\u5e38\u75be\u75c5\uff08\u5982\u5510\u6c0f\u75c7\u3001\u611b\u5fb7\u83ef\u6c0f\u75c7\u3001\u5df4\u9676\u6c0f\u75c7\u53ca\u7b2c9\u300116\u300122\u865f\u67d3\u8272\u9ad4\u4e09\u500d\u9ad4\u7570\u5e38\u7b49\uff09\u53ca\u67d3\u8272\u9ad4\u7247\u6bb5\u7f3a\u5931\u3001\u91cd\u8907\u3002NIPT\u88ab\u5b9a\u4f4d\u70ba\u7cbe\u6e96\u7684\u80ce\u5152\u67d3\u8272\u9ad4\u65e9\u671f\u7be9\u6aa2\uff0c\u7f8e\u570b\u5a66\u7522\u79d1\u91ab\u5b78\u6703\u57282015\u5e74\u5df2\u6b63\u5f0f\u5c07\u6b64\u6aa2\u6e2c\u5217\u70ba\u7522\u524d\u7be9\u6aa2\u7684\u5efa\u8b70\u9805\u76ee\u3002\u4e0d\u8ad6\u662f\u9ad8\u9f61\u6216\u5e74\u8f15\u5b55\u5a66\uff0c\u90fd\u9069\u5408\u9032\u884cNIPT\uff0c\u7279\u5225\u662f\u4ee5\u4e0b\u65cf\u7fa4\uff1a(1)\u61f7\u5b5510\u9031\u4ee5\u4e0a\u7684\u5b55\u5a66\uff1b(2)\u9ad8\u9f61\u7522\u5a66\uff08\u5927\u65bc34 \u6b72\uff09\u3001\u5177\u6709\u5bb6\u65cf\u53f2\u3001\u66fe\u61f7\u904e\u67d3\u8272\u9ad4\u7570\u5e38\u7684\u80ce\u5152\u3001\u7d93\u8d85\u97f3\u6ce2\u6aa2\u6e2c\u7570\u5e38\u800c\u61f7\u7591\u80ce\u5152\u6709\u67d3\u8272\u9ad4\u7570\u5e38\u7684\u9ad8\u98a8\u96aa\u65cf\u7fa4\uff1b(3)\u6709\u80ce\u76e4\u524d\u7f6e\u3001\u7f8a\u6c34\u904e\u5c11\u53ca\u7fd2\u6163\u6027\u6d41\u7522\u7b49\u4e0d\u9069\u5408\u9032\u884c\u4fb5\u5165\u6027\u7522\u524d\u6aa2\u6e2c\u8005\u3002<\/p>\n

\u975e\u4fb5\u5165\u6027\u7684\u80ce\u5152\u67d3\u8272\u9ad4\u57fa\u56e0\u6aa2\u6e2c\u53ef\u4ee5\u53d6\u4ee3\u7f8a\u819c\u7a7f\u523a\u55ce\uff1f<\/strong><\/span><\/p>\n

NIPT\u76ee\u524d\u4e26\u7121\u6cd5\u5b8c\u5168\u53d6\u4ee3\u7f8a\u819c\u7a7f\u523a\u7684\u7522\u524d\u67d3\u8272\u9ad4\u5206\u6790\u3002NIPT\u662f\u5728\u5b55\u671f10\u9031\u4ee5\u4e0a\u6642\uff0c\u4ee5\u62bd\u8840\u65b9\u5f0f\u9032\u884c\u80ce\u5152\u67d3\u8272\u9ad4\u7570\u5e38\u7684\u65e9\u671f\u7be9\u6aa2\uff0c\u73fe\u4eca\u6280\u8853\u50c5\u9808\u900f\u904e\u63a1\u53d6\u6bcd\u89aa\u8840\u6db2\u5373\u53ef\u9032\u884c\u6aa2\u6e2c\uff0c\u5982\u67d3\u8272\u9ad4\u4e09\u500d\u9ad4\uff08trisomy\uff09\u3001\u6027\u67d3\u8272\u9ad4\u7570\u5e38\u53ca\u67d3\u8272\u9ad4\u7247\u6bb5\u7f3a\u5931\uff0f\u91cd\u8907\u7b49\u75be\u75c5\uff0c\u6e96\u78ba\u5ea6\u9ad8\u905499%\uff0c\u70ba\u8f03\u5b89\u5168\u7684\u7be9\u6aa2\u65b9\u6cd5\u3002\u7136\u800c\uff0c\u6709\u4e9b\u67d3\u8272\u9ad4\u7570\u5e38\u7684\u75be\u75c5\u662f\u7531\u5c0f\u7247\u6bb5\u67d3\u8272\u9ad4\u7f3a\u5931\u6240\u5c0e\u81f4\uff0c\u81e8\u5e8a\u8868\u5fb5\u5305\u62ec\u80ce\u5152\u767c\u80b2\u9072\u7de9\u3001\u795e\u7d93\u7cfb\u7d71\u767c\u80b2\u4e0d\u5168\u3001\u667a\u80fd\u969c\u7919\u3001\u7672\u7647\u3001\u808c\u8089\u5f35\u529b\u4f4e\u4e0b\u3001\u60c5\u7dd2\u969c\u7919\u3001\u81c9\u90e8\u7570\u5e38\u3001\u5fc3\u8840\u7ba1\u7570\u5e38\u53ca\u5176\u4ed6\u5148\u5929\u6027\u767c\u80b2\u7570\u5e38\u7b49\uff0c\u9019\u4e9b\u662fNIPT\u7121\u6cd5\u6aa2\u67e5\u51fa\u4f86\u7684\u3002<\/p>\n

\u7f8a\u819c\u7a7f\u523a\u662f\u63a1\u7528\u4fb5\u5165\u5f0f\u7684\u53d6\u6a23\u65b9\u6cd5\uff0c\u53d6\u5f97\u7f8a\u6c34\u7d30\u80de\u5f8c\u9032\u884c\u300c\u67d3\u8272\u9ad4\u6838\u578b\u5206\u6790\uff08chromosome karyotyping\uff09\u300d\u53ca\u300c\u7f8a\u6c34\u67d3\u8272\u9ad4\u6676\u7247\uff08\u7f8a\u6c34\u6676\u7247\uff09\u5206\u6790\u300d\u7b49\u6aa2\u67e5\uff0c\u53ef\u4ee5\u6aa2\u6e2c\u51fa\u5fae\u5c0f\u57fa\u56e0\u7247\u6bb5\u7f3a\u5931\uff0c\u4f46\u9700\u5f85\u5b55\u5a66\u9031\u657816\u9031\u4ee5\u4e0a\uff0c\u4e26\u7d93\u8a55\u4f30\u9069\u5408\u62bd\u53d6\u7f8a\u6c34\u65b9\u53ef\u9032\u884c\u3002\u96d6\u7136\u7f8a\u819c\u7a7f\u523a\u70ba\u50b3\u7d71\u4e0a\u6a19\u6e96\u7684\u81e8\u5e8a\u78ba\u8a3a\u65b9\u6cd5\uff0c\u4f46\u4ee5\u5b89\u5168\u6027\u53ca\u6aa2\u9a57\u9806\u5e8f\u8003\u91cf\uff0c\u61c9\u5148\u5f9e\u8f03\u5b89\u5168\u7684\u62bd\u8840\u7be9\u6aa2\u958b\u59cb\uff0c\u82e5\u5206\u6790\u7d50\u679c\u70ba\u967d\u6027\u3001\u9ad8\u98a8\u96aa\u6216\u7591\u4f3c\u7570\u5e38\u6642\uff0c\u518d\u63a1\u7528\u98a8\u96aa\u8f03\u9ad8\u4e4b\u4fb5\u5165\u6027\u6aa2\u6e2c\u3002<\/p>\n

\u975e\u4fb5\u5165\u6027\u80ce\u5152\u67d3\u8272\u9ad4\u57fa\u56e0\u6aa2\u6e2c\u7684\u81e8\u5e8a\u7814\u7a76<\/strong><\/span><\/p>\n

\u5728 2020\u5e74\uff0c\u82f1\u570b\u7814\u7a76\u4eba\u54e1\u5728\u4e00\u500b\u4e8c\u6b21\u975e\u4fb5\u5165\u6027\u7522\u524d\u7be9\u6aa2\u80ce\u5152\u67d3\u8272\u9ad4\u4e09\u500d\u9ad4\u7684\u516c\u5171\u6709\u6548\u6027\u7814\u7a76\u4e2d\uff0c\u767c\u73fe\u9ad8\u901a\u91cf\uff08high-throughput\uff09NIPT\u53ef\u4ee5\u6210\u529f\u9069\u7528\u65bc\u516c\u5171\u885b\u751f\u74b0\u5883\uff0c4 \u5929\u7684\u6e2c\u8a66\u5468\u8f49\u6642\u9593\uff08turn-around time\uff09\u548c 0.37% \u7684\u7121\u53cd\u61c9\u7387\uff08no call rate\uff09\u5b8c\u5168\u5728\u81e8\u5e8a\u7684\u5bb9\u8a31\u7bc4\u570d\u5167\u3002\u7814\u7a76\u6578\u64da\u986f\u793a\u5b55\u5a66\u61f7\u80ce\u6642\u5e74\u9f61\u3001\u6bcd\u89aa\u9ad4\u91cd\u3001\u8f14\u52a9\u751f\u6b96\u6280\u8853\u3001\u4f4e\u5206\u5b50\u91cf\u7684\u809d\u7d20\u7684\u4f7f\u7528\u548c\u60e1\u6027\u816b\u7624\u75c5\u53f2\u5c0d\u6e2c\u8a66\u7121\u53cd\u61c9\u7387\u7684\u5f71\u97ff\u53ef\u4ee5\u5ffd\u7565\u4e0d\u8a08\u3002\u9019\u9805\u7814\u7a76\u8868\u660e\uff0cNIPT \u5c0d\u9ad8\u98a8\u96aa\u548c\u4f4e\u98a8\u96aa\u4eba\u7fa4\u5747\u6709\u5f88\u9ad8\u7684\u6aa2\u6e2c\u6548\u7528\u3002<\/p>\n

\u57282019\u5e74\uff0c\u8cfd\u666e\u52d2\u65af\u7814\u7a76\u4eba\u54e1\u8a55\u4f30NIPT\u5728\u55ae\u80ce\u598a\u5a20\uff08singleton pregnancy\uff09\u4e2d\u6027\u67d3\u8272\u9ad4\u975e\u6574\u500d\u9ad4 (sex chromosome aneuploidy, SCA) \u6aa2\u6e2c\u3001\u96d9\u80ce\u598a\u5a20\uff08twin pregnancy\uff09\u7684\u9ad4\u67d3\u8272\u9ad4\u975e\u6574\u500d\u9ad4\u6aa2\u6e2c\u548cNIPT \u7684\u81e8\u5e8a\u8868\u73fe\u3002\u4ed6\u5011\u767c\u73fe\u55ae\u80ce\u598a\u5a20 SCA \u6aa2\u6e2c\u986f\u73fe\u51fa100% \u7684\u9748\u654f\u5ea6\u548c\u7279\u7570\u6027\uff0c\u4e26\u6b63\u78ba\u6aa2\u6e2c\u51fa\u6027\u67d3\u8272\u9ad4\u7570\u5e38 (45, X)\u3001(47, XXY)\u3001(47, XXX) \u53ca (47, XYY)\u54047\u30014\u30012\u53ca1\u500b\u75c5\u4f8b\uff1b\u96d9\u80ce\u598a\u5a20\u4e2d\u7684\u9ad4\u67d3\u8272\u9ad4\u975e\u6574\u500d\u9ad4\u6aa2\u6e2c\u986f\u73fe\u51fa100% \u7684\u9748\u654f\u5ea6\u548c\u7279\u7570\u6027\uff0c\u4e26\u6b63\u78ba\u6aa2\u6e2c\u51fa\u7b2c21\u300118\u548c13\u865f\u67d3\u8272\u9ad4\u4e09\u500d\u9ad4\u54043\u30011\u548c1\u500b\u6a23\u672c\u3002NIPT\u7684\u81e8\u5e8a\u6027\u80fd\u8a55\u4f30\u662f\u572810564\u6b21\u598a\u5a20\u4e2d\u9032\u884c\uff0c\u4e2d\u4f4d\uff08median\uff09\u80ce\u9f61\u70ba 13 \u9031\uff0c\u4e2d\u4f4d\u7522\u5a66\u5e74\u9f61\u70ba35 \u6b72\uff0c\u4e2d\u4f4d\u5b55\u91cd\u70ba64 kg\u3002\u6578\u64da\u986f\u793a\u7b2c21\u300118\u548c13\u865f\u67d3\u8272\u9ad4\u4e09\u500d\u9ad4\u7684\u6b63\u9810\u6e2c\u503c\uff08positive predicative value, PPV\uff09\u4f30\u8a08\u5206\u5225\u70ba100%\u3001100% \u548c 71%\uff1b\u6027\u67d3\u8272\u9ad4\u55ae\u9ad4\uff08monosomy\uff09X\u7684 PPV\u4f30\u8a08\u7d04\u70ba57%\uff1b\u800cSCA\u6aa2\u6e2c\u7684NPV\u4f30\u8a08\u7d04\u70ba100%\u3002\u7814\u7a76\u7d50\u679c\u8868\u660eNIPT\u662f\u4e00\u7a2e\u9ad8\u5ea6\u6e96\u78ba\u7684\u65b9\u6cd5\uff0c\u53ef\u4ee5\u5b89\u5168\u5730\u61c9\u7528\u65bc\u81e8\u5e8a\u74b0\u5883\u3002<\/p>\n

\u57282016\u5e74\uff0c\u82f1\u570b\u7814\u7a76\u4eba\u54e1\u5728\u4e00\u9805\u7cfb\u7d71\u8a55\u50f9\uff08systemic review\uff09\u548c\u96d9\u8b8a\u6578\u7684\u6574\u5408\u5206\u6790\uff08bivariate meta-analysis\uff09\u4e2d\uff0c\u7814\u7a76\u5728\u55ae\u80ce\u598a\u5a20\uff08singleton pregnancy\uff09\u7684\u60c5\u6cc1\u4e0b\u4f7f\u7528\u7121\u7d30\u80de\u7684\u80ce\u5152DNA\u4f5cNIPT\u7684\u6e96\u78ba\u6027\u3002\u4ed6\u5011\u7e3d\u9ad4\u5206\u6790\u904e\u5305\u542b18\u7a2e\u72c0\u6cc1\u7684117\u7bc7\u7814\u7a76\u8ad6\u6587\u4e4b\u5f8c\uff0c\u767c\u73feNIPT\u53ef\u4ee5\u7528\u65bc\u8a3a\u65b7\u80ce\u5152\u7684\u6027\u5225\u548cRh\u8840\u578b\u7684\u72c0\u614b\uff0c\u4ea6\u53ef\u88ab\u6307\u5b9a\u70ba\u5c0d\u7b2c21\u300118 \u548c 13\u865f\u67d3\u8272\u9ad4\u4e09\u500d\u9ad4\u7684\u7be9\u9078\u6e2c\u8a66\u65b9\u6cd5\u3002\u9019\u9805\u7814\u7a76\u986f\u793a\uff0c\u6709\u8db3\u5920\u7684\u8b49\u64da\u8b49\u660e\u4f7f\u7528\u7121\u7d30\u80de\u7684\u80ce\u5152DNA\u9032\u884cNIPT\u7684\u6e96\u78ba\u6027\u548c\u53ef\u91cd\u8907\u6027\uff0c\u61c9\u53ef\u5141\u8a31\u5c07NIPT\u5f15\u5165\u5e38\u898f\u81e8\u5e8a\u61c9\u7528\u3002<\/p>\n

 <\/p>\n

\u53c3\u8003\u8cc7\u6599<\/strong><\/p>\n

1.Suciu ID, Toader OD, Galeva S, Pop L. Non-Invasive Prenatal Testing beyond Trisomies.<\/a> J Med Life. 2019 Jul-Sep;12(3):221-224. doi: 10.25122\/jml-2019-0053.
\n2. Badeau M, Lindsay C, Blais J, Nshimyumukiza L, Takwoingi Y, Langlois S, L\u00e9gar\u00e9 F, Gigu\u00e8re Y, Turgeon AF, Witteman W, Rousseau F. Genomics-based non-invasive prenatal testing for detection of fetal chromosomal aneuploidy in pregnant women. Cochrane Database Syst Rev. 2017 Nov 10;11(11):CD011767. doi: 10.1002\/14651858.CD011767.pub2..
\n3.Juvet LK, Ormstad SS, Stoinska\u2010Schneider A, Solberg B, Arentz\u2010Hansen H, Kvamme MK, Fure B. Non-Invasive Prenatal Test (NIPT) for Identification of Trisomy 21, 18 and 13.<\/a> Oslo, Norway: Knowledge Centre for the Health Services at the Norwegian Institute of Public Health (NIPH) 2016 Dec 16. Report from the Norwegian Institute of Public Health No. 2016-18.
\n4.Guy GP, Hargrave J, Dunn R, Price K, Short J, Thilaganathan B; SAFE test collaborative. Secondary non-invasive prenatal screening for fetal trisomy: an effectiveness study in a public health setting. BJOG. 2021 Jan;128(2):440-446. doi: 10.1111\/1471-0528.16464. Epub 2020 Sep 14.<\/p>\n","protected":false},"excerpt":{"rendered":"

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