{"id":9308,"date":"2019-03-05T19:08:18","date_gmt":"2019-03-05T11:08:18","guid":{"rendered":"http:\/\/mp.weixin.qq.com\/s?__biz=MzI3NjUzOTM1Mg==&#038;mid=100009597&#038;idx=1&#038;sn=9ce9897d92f5668d47545b11d8830a87&#038;chksm=6b7154ca5c06dddc60651923c636d6dc2c63528360c67c296b4fc3153cb38b2c977b5fc2b609#rd"},"modified":"2026-04-08T10:29:41","modified_gmt":"2026-04-08T02:29:41","slug":"524898","status":"publish","type":"post","link":"https:\/\/www.geneclub.net.cn\/index.php\/2019\/03\/05\/524898\/","title":{"rendered":"Nature\u5b50\u520a\uff1a\u8fd110\u4e07\u4eba\u968f\u8bbf\u8bc1\u5b9eNIPT Plus\u53ef\u4f5c\u4e3a\u4ea7\u524d\u4e00\u7ea7\u7b5b\u67e5\u65b9\u6cd5"},"content":{"rendered":"<p><!-- wechat_content_hash: 40b9e081ed4827b7 --><\/p>\n<div>\n\n<div class=\"wp-block-image aligncenter\">\n<figure class=\"\"><img decoding=\"async\" src=\"https:\/\/www.geneclub.net.cn\/wp-content\/uploads\/images\/RmFicvQBAkgCuC54K47siaoibvbClYbpoQdmoEA7Yo9T0l4l5c9wsK8DWv13zXvBYojNDUX4HpbxOEe8enSicCuVVg.gif\" alt=\"RmFicvQBAkgCuC54K47siaoibvbClYbpoQdmoEA7Yo9T0l4l5c9wsK8DWv13zXvBYojNDUX4HpbxOEe8enSicCuVVg\"\/><\/figure><\/div>\n\n<\/div>\n<div>\u5173\u952e\u8bcd\/\u65e0\u521b\u4ea7\u524d\u57fa\u56e0\u68c0\u6d4b \u6587\/\u57fa\u56e0\u6167<\/div>\n<div><\/div>\n<div>\u5317\u4eac\u65f6\u95f43\u67085\u65e5\u51cc\u6668\uff0c\u56fd\u9645\u6743\u5a01\u5b66\u672f\u671f\u520a\u300aNature\u300b\u5b50\u520a\u300aGenetics in Medicine\u300b\u53d1\u8868\u4e86\u4e00\u7bc7\u9898\u4e3a\u300a\u65e0\u521b\u4ea7\u524d\u68c0\u6d4b\u5728\u67d3\u8272\u4f53\u75be\u75c5\u6269\u5c55\u6027\u7b5b\u67e5\u4e2d\u7684\u4e34\u5e8a\u6548\u7528\u300b\u7684\u6587\u7ae0\uff0c\u7531\u4e2d\u5357\u5927\u5b66\u751f\u547d\u79d1\u5b66\u5b66\u9662\u533b\u5b66\u9057\u4f20\u5b66\u7814\u7a76\u4e2d\u5fc3\u3001\u6e56\u5357\u5bb6\u8f89\u9057\u4f20\u4e13\u79d1\u533b\u9662\u3001\u6e56\u5357\u7701\u5987\u5e7c\u4fdd\u5065\u9662\u3001\u8d1d\u52d2\u533b\u5b66\u9662\u5206\u5b50\u4e0e\u4eba\u7c7b\u9057\u4f20\u5b66\u7cfb\u548c\u8d1d\u745e\u57fa\u56e0\u5408\u4f5c\u53d1\u8868\uff0c\u8be5\u7814\u7a76\u8bc1\u5b9eNIPT Plus\u53ef\u4f5c\u4e3a\u4ea7\u524d\u4e00\u7ea7\u7b5b\u67e5\u65b9\u6cd5\u3002<\/div>\n<div><\/div>\n<div><\/div>\n<div>\n\n<div class=\"wp-block-image aligncenter\">\n<figure class=\"\"><img decoding=\"async\" src=\"https:\/\/www.geneclub.net.cn\/wp-content\/uploads\/images\/RmFicvQBAkgC6r3qIRw8EtulGSMoPnH6oBV2NMoAgCwEeqSmvhDPiauibOicY6qnK8ABKoZicZsS3S0FeqObEUySW2w.jpeg\" alt=\"RmFicvQBAkgC6r3qIRw8EtulGSMoPnH6oBV2NMoAgCwEeqSmvhDPiauibOicY6qnK8ABKoZicZsS3S0FeqObEUySW2w\"\/><\/figure><\/div>\n\n<div>1\u3001\u5b9e\u9a8c\u80cc\u666f<\/div>\n<div>\u4e0e\u5e38\u67d3\u8272\u4f53\u975e\u6574\u500d\u4f53\u4e00\u6837\uff0c\u4e00\u4e9b\u67d3\u8272\u4f53\u4e9a\u663e\u5fae\u7ed3\u6784\u5f02\u5e38\uff08\u5fae\u7f3a\u5931\/\u5fae\u91cd\u590d\uff09\u4e5f\u4f1a\u5bfc\u81f4\u5148\u5929\u6027\u7578\u5f62\u3001\u5668\u5b98\u529f\u80fd\u969c\u788d\u3001\u751f\u957f\u53d1\u80b2\u8fdf\u7f13\u3001\u667a\u529b\u6b8b\u75be\u3001\u81ea\u95ed\u75c7\u7b49\uff0c\u5360\u65b0\u751f\u513f\u5148\u5929\u6027\u5f02\u5e38\u76841-2%\uff0c\u7ed9\u5bb6\u5ead\u548c\u793e\u4f1a\u5e26\u6765\u4e25\u91cd\u7684\u7ecf\u6d4e\u548c\u7cbe\u795e\u8d1f\u62c5\u3002\u636e\u6709\u5173\u7814\u7a76\u8868\u660e\uff0c\u67d3\u8272\u4f53\u5f02\u5e38\u6392\u540d\u524d11\u4f4d\u7684\u5305\u62ec\uff1aT21\u300122q11.2\u7f3a\u5931\u7efc\u5408\u5f81\u3001Cystic Fibrosis\u3001T18\u3001T13\u3001Fragile X\u30011p36\u7f3a\u5931\u7efc\u5408\u5f81\u3001SMA\u3001Prader-Willi\u7efc\u5408\u5f81\u3001Angelman\u7efc\u5408\u5f81\u3001Cri du Chat \u7efc\u5408\u5f81\u300222q11.2\u7f3a\u5931\u7efc\u5408\u5f81\u7684\u53d1\u751f\u7387\u6392\u7b2c\u4e8c\uff0c\u4ec5\u6b21\u4e8eT21\u3002\u5728\u8fd9\u524d11\u4f4d\u67d3\u8272\u4f53\u5f02\u5e38\u4e2d\uff0c\u67095\u79cd\u662f\u5fae\u7f3a\u5931\/\u5fae\u91cd\u590d\u7efc\u5408\u5f81\u3002<\/div>\n<div>\u00a0<\/div>\n<div>MMS\u5927\u591a\u4e3a\u65b0\u53d1\u7a81\u53d8\uff0c\u5176\u53d1\u751f\u4e0e\u5b55\u5987\u5e74\u9f84\u65e0\u5173\uff0c\u5e38\u89c4\u4ea7\u524d\u68c0\u6d4b\u6280\u672f\u96be\u4ee5\u53d1\u73b0\u3002\u5c06NIPT\u68c0\u6d4b\u8303\u56f4\u6269\u5c55\u81f3\u67d3\u8272\u4f53\u5fae\u7f3a\u5931\/\u5fae\u91cd\u590d\uff0c\u662f\u4e34\u5e8a\u8feb\u5207\u7684\u9700\u6c42\u3002<\/div>\n<div>\u6839\u636e\u7f8e\u56fd\u533b\u5b66\u9057\u4f20\u5b66\u548c\u57fa\u56e0\u7ec4\u5b66\u5b66\u4f1a\uff08ACMG\uff09\u6700\u8fd1\u7684\u6307\u5357\uff0c\u4e13\u5bb6\u666e\u904d\u8ba4\u4e3a\u5728\u5927\u89c4\u6a21\u4eba\u7fa4\u7814\u7a76\u8bc1\u5b9e\u6269\u5c55\u6027\u65e0\u521b\u4ea7\u524d\u7b5b\u67e5\u7684\u4e34\u5e8a\u8868\u73b0\u4e4b\u524d\u5c31\u5c06\u5176\u5e94\u7528\u4e8e\u4e34\u5e8a\u662f\u4e0d\u5408\u9002\u7684\u3002\u4e3a\u4e86\u89e3\u51b3\u4e0a\u8ff0\u95ee\u9898\uff0c\u7814\u7a76\u56e2\u961f\u8bbe\u8ba1\u5f00\u53d1\u4e86\u4e00\u79cd\u79f0\u4e3aNIPT Plus\u7684\u6d41\u7a0b\uff0c\u6bd4\u4f20\u7edfNIPT\u62e5\u6709\u66f4\u6df1\u7684\u6d4b\u5e8f\u6df1\u5ea6\uff0c\u5e76\u4f7f\u7528\u7ec4\u5408\u6570\u636e\u5206\u6790\u7b97\u6cd5\u6765\u53e6\u884c\u8bfb\u53d6\u4e0eMMS\u76f8\u5173\u7684\u5168\u57fa\u56e0\u7ec4CNV\u3002<\/div>\n<div>\u00a0<\/div>\n<div>2\u3001\u5b9e\u9a8c\u65b9\u6cd5<\/div>\n<div>\u8be5\u7814\u7a76\u62db\u52df\u4e8694,085\u540d\u5355\u80ce\u598a\u5a20\u5973\u6027\u5e76\u5bf9\u80ce\u513f\u5f02\u5e38\u8fdb\u884c\u524d\u77bb\u6027\u7814\u7a76\uff0c\u8bc4\u4f30\u4e86\u6269\u5c55\u6027\u65e0\u521b\u4ea7\u524d\u7b5b\u67e5\uff08NIPS-Plus\u6216NIPT Plus\uff09\u5728\u67d3\u8272\u4f53\u975e\u6574\u500d\u4f53\u548c\u5168\u57fa\u56e0\u7ec4\u5fae\u7f3a\u5931\/\u5fae\u91cd\u590d\u7efc\u5408\u5f81\uff08MMS\uff09\u68c0\u6d4b\u4e2d\u7684\u4e34\u5e8a\u8868\u73b0\u3002\u6bcd\u8840\u6e38\u79bbDNA\u7ecfPCR-free\u5efa\u5e93\uff0cNextSeq CN500\u6d4b\u5e8f\uff0c\u4f7f\u7528\u7ecf\u6539\u8fdb\u7684\u62f7\u8d1d\u6570\u53d8\u5f02\uff08CNV\uff09calling\u7b97\u6cd5\u5bf9\u80ce\u513f\u5f02\u5e38\u8fdb\u884c\u68c0\u6d4b\u5206\u6790\u3002<\/div>\n<div>\u00a0<\/div>\n<div>3\u3001\u6837\u672c\u8bbe\u8ba1<\/div>\n<div>38,023\u4f8b\uff0840.41\uff05\uff09\u9ad8\u5371\u598a\u5a20\uff0c\u5b55\u5987\u5e74\u9f84\u226535\u5c81\uff08\u4e2d\u4f4d\u657037\u5c81\uff0c\u8303\u56f435-53\u5c81\uff09\uff1b<\/div>\n<div>56,058\u4f8b\uff0859.58\uff05\uff09\u4f4e\u5371\u598a\u5a20\uff0c\u5b55\u5987\u5e74\u9f84&lt;35\u5c81\uff08\u4e2d\u4f4d\u657029\u5c81\uff0c\u8303\u56f415-34\u5c81\uff09\uff1b<\/div>\n<div>4\u4f8b\uff080.004\uff05\uff09\u5b55\u5987\u5e74\u9f84\u4e0d\u8be6\u3002<\/div>\n<div>\u9664\u4e8631\u4f8b\u80ce\u9f84\u672a\u77e5\u548c23\u4f8b\u80ce\u9f84\u4e0d\u523011\u5468\u7684\u6837\u672c\u5916\uff0c\u8840\u6837\u91c7\u96c6\u4e8e\u80ce\u9f84\u768411\u5468\u523039\u5468\uff08\u4e2d\u4f4d\u6570\u4e3a17\u5468\uff09\uff0c\u7ecf\u6821\u5bf9\u540e\u7684\u80ce\u513fDNA\u542b\u91cf\u4e2d\u4f4d\u6570\u4e3a10.8%\u3002<\/div>\n<div>\u00a0<\/div>\n<div>4\u3001\u5b9e\u9a8c\u7ed3\u679c<\/div>\n<div>\u5171\u8ba11128\u4f8b\uff081.2%\uff09\u5177\u6709\u4e34\u5e8a\u610f\u4e49\u7684\u80ce\u513f\u67d3\u8272\u4f53\u5f02\u5e38\u7684\u9633\u6027\u7ed3\u679c\uff0c\u5305\u62ec965\u4f8b\u67d3\u8272\u4f53\u975e\u6574\u500d\u4f53\uff081.026%\uff09\u548c163\u4f8b\uff080.174%\uff09MMS\u3002\u901a\u8fc7\u968f\u8bbf\u9a8c\u8bc1\uff0cT21\u3001T18\u3001T13\u7684\u9633\u6027\u9884\u6d4b\u503c\uff08PPV\uff09\u5206\u522b\u4e3a95%\u300182%\u300146%\uff0cDiGeorge\u7efc\u5408\u5f81\u7684PPV\u9ad8\u8fbe93%\u3002<\/div>\n<div>\u7814\u7a76\u8bc1\u5b9e\uff0c\u9488\u5bf9\u5e38\u89c1\u7684\u975e\u6574\u500d\u4f53\u548cDiGeorge\u7efc\u5408\u5f81\uff0cNIPT Plus\u5177\u6709\u8f83\u9ad8\u7684PPV\uff0c\u5bf9\u5176\u4ed6MMS\u5177\u6709\u4e2d\u5ea6PPV\u3002NIPT Plus\u53ef\u4f5c\u4e3a\u4ea7\u524d\u4e00\u7ea7\u7b5b\u67e5\uff0c\u63d0\u9ad8\u5177\u6709\u4e34\u5e8a\u610f\u4e49\u7684\u80ce\u513f\u67d3\u8272\u4f53\u5f02\u5e38\u7684\u68c0\u51fa\u7387\u3002<\/div>\n\n<div class=\"wp-block-image aligncenter\">\n<figure class=\"\"><img decoding=\"async\" src=\"https:\/\/www.geneclub.net.cn\/wp-content\/uploads\/images\/RmFicvQBAkgC6r3qIRw8EtulGSMoPnH6ozjfSicvoUKIHhrJHBQNicafPiaf2yDflk0ia6f9r5AWYAj1uw8SptfBF0Q.jpeg\" alt=\"RmFicvQBAkgC6r3qIRw8EtulGSMoPnH6ozjfSicvoUKIHhrJHBQNicafPiaf2yDflk0ia6f9r5AWYAj1uw8SptfBF0Q\"\/><\/figure><\/div>\n\n<div>5\u3001\u8ba8\u8bba<\/div>\n<div>\u76ee\u524dNIPT\u7528\u4e8e\u68c0\u6d4b\u5e38\u89c1\u7684\u80ce\u513f\u5e38\u67d3\u8272\u4f53\u4e09\u4f53\u7efc\u5408\u5f81\uff08NIPT\uff09\u548c\u6027\u67d3\u8272\u4f53\u975e\u6574\u500d\u4f53\uff08SCA\uff09\uff0c\u5df2\u7ecf\u88ab\u4e34\u5e8a\u533b\u751f\u548c\u60a3\u8005\u5e7f\u6cdb\u63a5\u53d7\uff0c\u4f46\u5bf9\u4e8e\u7f55\u89c1\u67d3\u8272\u4f53\u75be\u75c5\u7efc\u5408\u5f81\u7684\u68c0\u6d4b\u7684\u4e34\u5e8a\u4ef7\u503c\uff0c\u4ecd\u7136\u5b58\u5728\u4e89\u8bae\u3002<\/div>\n<div>\u672c\u7814\u7a76\u901a\u8fc7\u5927\u961f\u5217\u4eba\u7fa4\u7814\u7a76\u8bc1\u5b9eNIPT Plus\u5728\u68c0\u6d4b\u67d3\u8272\u4f53\u5fae\u7f3a\u5931\u548c\u91cd\u590d\u65f6\u8868\u73b0\u51fa\u9ad8\u7075\u654f\u5ea6\u548c\u7279\u5f02\u6027\uff0c\u540c\u65f6\u5bf9\u68c0\u6d4b\u5e38\u89c1\u7684\u975e\u6574\u500d\u4f53\u4e5f\u6709\u975e\u5e38\u9ad8\u7684\u7075\u654f\u5ea6\u548c\u7279\u5f02\u6027\u3002<\/div>\n<div>\u8fd9\u662f\u9996\u4e2a\u5305\u62ec\u9ad8\u5371\u548c\u4f4e\u5371\u598a\u5a20\u7b49\u7684\u5927\u89c4\u6a21\u5b55\u5987\u7fa4\u4f53\u7684\u524d\u77bb\u6027\u7814\u7a76\u3002\u7814\u7a76\u56e2\u961f\u4e5f\u63d0\u51fa\u5efa\u8bae\uff1a\u5c06NIPT Plus\u4e0e\u8d85\u58f0\u76f8\u7ed3\u5408\uff0c\u4f5c\u4e3a\u80ce\u513f\u81f4\u75c5\u6027CNV\u598a\u5a20\u5e38\u89c4\u7b5b\u67e5\u7684\u65b0\u6807\u51c6\u3002<\/div>\n<div>\u00a0<\/div>\n<div>\u60a8\u5bf9NIPT Plus\u5e94\u7528\u4e34\u5e8a\u600e\u4e48\u770b\uff1f\u6b22\u8fce\u7559\u8a00\u8ba8\u8bba\uff0c\u4e0e\u884c\u4e1a\u5206\u4eab\u60a8\u7684\u89c1\u89e3\u3002<\/div>\n<div>\u53c2\u8003\u94fe\u63a5\uff1a<\/div>\n<div>1.https:\/\/www.nature.com\/articles\/s41436-019-0467-4<\/div>\n<div>\u7f16\u8005\uff1aCandice\u00a0 \u6821\u5bf9\uff1aEric\/Cindy\u00a0 \u5ba1\u6838\uff1aMark<\/div>\n<div>\u00a0<\/div>\n<div>\u76f8\u5173\u9605\u8bfb<\/div>\n<div><a href=\"http:\/\/mp.weixin.qq.com\/s?__biz=MzI3NjUzOTM1Mg==&amp;mid=2247488619&amp;idx=1&amp;sn=9cd782045e88307e7927dd66bf3ed2af&amp;chksm=eb72a6dcdc052fca88bf2d481581432ccbfe9dedae233d86308cbb67c960e90aabf1dfaeaa86&amp;scene=21#wechat_redirect\">\u56fd\u5bb6\u536b\u5065\u59d4\u53d1\u5e03340\u5bb6\u6279\u51c6\u5f00\u5c55\u4ea7\u524d\u8bca\u65ad\u7684\u533b\u7597\u673a\u6784\u540d\u5355<\/a><\/div>\n\n<div class=\"wp-block-image aligncenter\">\n<figure class=\"\"><img decoding=\"async\" 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