{"id":10963,"date":"2017-06-18T04:57:10","date_gmt":"2017-06-17T20:57:10","guid":{"rendered":"http:\/\/mp.weixin.qq.com\/s?__biz=MzI3NjUzOTM1Mg==&#038;mid=100000954&#038;idx=1&#038;sn=61483574fe480befe46f5ac605c2235f&#038;chksm=6b72b60d5c053f1b2d8c8470f4fffa4f381320bf9b2a080fd007f4b6f3534637fd32a77f4d98#rd"},"modified":"2026-04-09T09:49:31","modified_gmt":"2026-04-09T01:49:31","slug":"519951","status":"publish","type":"post","link":"https:\/\/www.geneclub.net.cn\/index.php\/2017\/06\/18\/519951\/","title":{"rendered":"ACMGG\u671f\u520a\u53d1\u88681\u4e07\u4f8b\u5168\u57fa\u56e0\u7ec4cfDNA\u4e34\u5e8a\u6837\u672c\u7b5b\u67e5\u7ed3\u679c"},"content":{"rendered":"<p><!-- wechat_content_hash: 3c31cf47499b9cf0 --><\/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\/RmFicvQBAkgBqJyMcQxUZibhoFCjLcSCNYDXUEhmz2Zf3jEC87jjYiceTyIaB3JnrFLh5ibjQQBCozYupUkT2icDsTA.gif\" alt=\"RmFicvQBAkgBqJyMcQxUZibhoFCjLcSCNYDXUEhmz2Zf3jEC87jjYiceTyIaB3JnrFLh5ibjQQBCozYupUkT2icDsTA\"\/><\/figure><\/div>\n\n<\/div>\n<div><\/div>\n<div>\u5173\u952e\u8bcd\uff1a\u65e0\u521b\u4ea7\u524d\u7b5b\u67e5\uff08NIPS) cfDNA \u00a0<\/div>\n<div>\u4e34\u5e8a\u5b9e\u9a8c\u5ba4\u00a0Sequenom<\/div>\n<div>\u5efa\u8bae\u7528\u65f6\uff1a5\u5206\u949f<\/div>\n<div><\/div>\n<div>\u65e0\u521b\u4ea7\u524d\u7b5b\u67e5\uff0c\u901a\u5e38\u9488\u5bf913\u300118\u548c21\u53f7\u5e38\u67d3\u8272\u4f53\u548c\u6027\u67d3\u8272\u4f53\u975e\u6574\u500d\u4f53\uff0c \u800c\u6709\u5927\u91cf\u5176\u4ed6\u60c5\u51b5\u7684\u7a81\u53d8\u672a\u8986\u76d6\u5230\u30022015\u5e74\uff0cSequenom \u542f\u52a8\u65b0\u7684\u5168\u57fa\u56e0\u7ec4cfDNA\u7b5b\u67e5\u6280\u672f\uff0c\u6269\u5927\u68c0\u6d4b\u8303\u56f4\u30022017\u5e746\u670815\u65e5\uff0c\u7f8e\u56fd\u533b\u5b66\u9057\u4f20\u5b66\u4e0e\u57fa\u56e0\u7ec4\u5b66\u5b66\u4f1a(ACMGG)\u5b98\u65b9\u671f\u520a\u300aGenetics in Medicine\u300b\u53d1\u5e03\u4e86Sequenom\u4e34\u5e8a\u5b9e\u9a8c\u5ba4\u7684\u524d10,000\u4f8b\u5168\u57fa\u56e0\u7ec4cfDNA\u7b5b\u67e5\u7684\u7ed3\u679c\u3002\u57fa\u56e0\u6167\u6574\u7406\u4e3b\u8981\u5185\u5bb9\u5982\u4e0b\uff0c\u4ec5\u4f9b\u5206\u4eab\u3001\u53c2\u8003\u3002\u6587\u732epdf\u4e0b\u8f7d\u89c1\u6587\u672b\u53e3\u4ee4\u3002<\/div>\n<div><\/div>\n<div>\u539f\u4f5c\u8005\uff1aMathias Ehrich\u7b49<\/div>\n<div>\u8bd1\u8005\uff1aRosol\uff08\u7279\u7ea6\u4f5c\u8005\uff09<\/div>\n<div>\u7f16\u8005\uff1a\u57fa\u56e0\u6167\uff08\u8f6c\u8f7d\u8bf7\u5728\u9996\u884c\u6ce8\u660e\u6765\u6e90\uff09<\/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\/RmFicvQBAkgDRXWwNl9WMibZRsyJo3ntMeEZBf8z1d6tt7DC1CUfn4OjGaa9f0GuhmPHlgAhlCicvMfSjlIxoNLJg.jpeg\" alt=\"RmFicvQBAkgDRXWwNl9WMibZRsyJo3ntMeEZBf8z1d6tt7DC1CUfn4OjGaa9f0GuhmPHlgAhlCicvMfSjlIxoNLJg\"\/><\/figure><\/div>\n\n<div style=\"text-align: center;\">\u56fe\uff1a\u5b55\u5987\u5916\u5468\u8840\u542b\u6709\u80ce\u513f\u6e38\u79bbDNA\u662fNIPS\u7684\u7406\u8bba\u4f9d\u636e\uff0c\u56fe\u6765\u81eaSt George\u2019s University Hospitals<\/div>\n<div>1. \u6269\u5927\u4f20\u7edfcfDNA\u68c0\u6d4b\u8303\u56f4<\/div>\n<div>\u81ea20\u4e16\u7eaa80\u5e74\u4ee3\u521d\u4ee5\u6765\uff0c\u65e0\u521b\u4ea7\u524d\u68c0\u6d4b\u6280\u672f\u4e00\u76f4\u5728\u53d1\u5c55\u3002\u65e0\u521bcfDNA\u68c0\u6d4b\u81ea2011\u5e74\u63a8\u51fa\u4ee5\u6765\uff0c\u4f5c\u4e3a\u7b5b\u67e5\u5de5\u5177\u5df2\u7ecf\u88ab\u5e7f\u6cdb\u63a5\u53d7\u3002\u4e00\u822c\u5f53cfDNA\u7b5b\u67e5\u51fa\u9633\u6027\u7ed3\u679c\u540e\uff0c\u901a\u8fc7\u4fb5\u5165\u6027\u53d6\u6837\u8fdb\u884c\u8bca\u65ad\u786e\u8ba4\uff0c\u968f\u540e\u901a\u8fc7\u6838\u578b\u6216\u5fae\u9635\u5217\u5206\u6790\u8fdb\u884c\u5206\u6790\uff08\u7f16\u8005\u6ce8\uff1a\u65e0\u521b\u4ea7\u524d\u68c0\u6d4b\u5bf9\u60a3\u8005\u7684\u6838\u5fc3\u5e2e\u52a9\u662f\uff0c\u5f53cfDNA\u68c0\u6d4b\u4e3a\u9634\u6027\u65f6\uff0c\u5219\u514d\u53bb\u7f8a\u6c34\u7a7f\u523a\u7b49\u4fb5\u5165\u5f0f\u53d6\u6837\u8bca\u65ad\u8fd9\u4e00\u6709\u6d41\u4ea7\u98ce\u9669\u7684\u4e34\u5e8a\u65b9\u5f0f\uff09<\/div>\n<div>\u4f20\u7edf\u7684cfDNA\u7b5b\u67e5\u901a\u5e38\u9488\u5bf9\u4e8e13\u300118\u548c21\u4e09\u4f53\u7efc\u5408\u75c7\u4ee5\u53ca\u6027\u67d3\u8272\u4f53\u5f02\u5e38\uff0c\u540c\u65f6\u4e5f\u5e94\u7528\u4e8e\u4e00\u4e9b\u5fae\u5c0f\u7f3a\u5931\u7684\u7b5b\u67e5\u3002\u4f46\u79d1\u5b66\u5bb6\u540e\u7eed\u77e5\u9053\uff0ccfDNA\u7b5b\u67e5\u4e0d\u5e94\u4ec5\u9650\u4e8e\u67d3\u8272\u4f53\u5f02\u5e38\u7b5b\u67e5\u3002\u6700\u8fd1\u6570\u636e\u8868\u660e\uff0c\u666e\u901a\u4ea7\u79d1\u4eba\u7fa4\u4e2d\uff0c\u4f20\u7edfcfDNA\u68c0\u6d4b\u53ef\u4ee5\u786e\u5b9a\u5927\u7ea680%\u7684\u5177\u6709\u67d3\u8272\u4f53\u5f02\u5e38\u7684\u598a\u5a20\uff0c\u548c\u4fb5\u5165\u6027\u8840\u6e05\u7b5b\u67e5\u8fd8\u670920%\u7684\u5dee\u8ddd\uff08\u89c1\u6587\u672b\u53c2\u8003\u6587\u732e\uff09\u3002\u57282015\u5e74\uff0cSequenom\u5f15\u5165\u4e86\u4e00\u9879\u65b0\u7684cfDNA\u7b5b\u67e5\u6280\u672f\uff0c\u5e0c\u671b\u901a\u8fc7\u5bf9\u22657Mb\u7684\u62f7\u8d1d\u6570\u53d8\u5f02\u4ee5\u53ca\u4e00\u7ec4&lt;7Mb\u7684\u5fae\u7f3a\u5931\u8fdb\u884c\u5168\u57fa\u56e0\u7ec4\u5206\u6790\uff0c\u6765\u7f29\u5c0fcfDNA\u7b5b\u67e5\u4e0e\u4fb5\u5165\u6027\u68c0\u6d4b\u7684\u5dee\u8ddd\u3002\u7ecf\u8fc7\u8fd1\u4e00\u5e74\u7684\u4e34\u5e8a\u5b9e\u9a8c\u5ba4\u603b\u7ed3\uff08\u7f16\u8005\u6ce8\uff1a\u7f55\u89c1\u5730\u770b\u5230\u8fd9\u7bc7\u6587\u7ae0\u662f2016\u5e7410\u6708\u63a5\u6536\uff0c\u6574\u65748\u4e2a\u6708\u540e\u53d1\u5e03\uff09\uff0c\u8fd9\u91cc\u62a5\u544a\u524d10,000\u4f8b\u4e34\u5e8a\u5b9e\u9a8c\u5ba4\u6837\u672c\u7684\u4e34\u5e8a\u89c2\u5bdf\u6027\u603b\u7ed3\u53ca\u8ba8\u8bba\u7ed3\u679c\uff0c\u8fdb\u4e00\u6b65\u5206\u6790\u7ed3\u679c\u5c06\u9646\u7eed\u53d1\u5e03\u3002<\/div>\n<div>\u00a0<\/div>\n<div>2. \u4e34\u5e8a\u6837\u672c\u7b5b\u9009\u3001\u5904\u7406\u548c\u68c0\u6d4b\u6307\u6807<\/div>\n<div>\u672c\u6b21\u7814\u7a76\u5728CLIA\u548cCAP\u8ba4\u8bc1\u5b9e\u9a8c\u5ba4\u64cd\u4f5c\u3002<\/div>\n<div>\u6837\u672c\u7b5b\u9009\u6761\u4ef6\u4e3a\uff08\u4e00\u9879\u6216\u591a\u9879\uff09\uff1a\u9ad8\u9f84\u4ea7\u5987\uff08AMA\uff09\uff0c\u6709\u5bb6\u5ead\u6216\u4e2a\u4eba\u76f8\u5173\u75c5\u53f2\uff0c\u8d85\u58f0\u5f02\u5e38\uff0c\u5f02\u5e38\u8840\u6e05\u7b5b\u67e5\u6216\u5176\u4ed6\u3002\u598a\u5a20\u5e74\u9f84\u5224\u65ad\u4f9d\u636e\u6700\u540e\u6708\u7ecf\u671f\u6216\u8d85\u58f0\u6ce2\u3002<\/div>\n<div>\u6837\u672c\u6536\u96c6\u548c\u5904\u7406\uff1a\u7528Streck\u7ba1\u6536\u96c6\u5168\u8840\u6837\u672c\uff0c\u6216\u5206\u79bb\u5e76\u51b0\u51bb\u8840\u6d46\uff0c\u7136\u540e\u7528MyOne Dynabeads\u4ece\u8840\u6d46\u4e2d\u81ea\u52a8\u63d0\u53d6cfDNA\uff0c\u7528Tynan\u8bd5\u5242\u76d2\u6784\u5efa\u5e26\u6709\u6807\u7b7e\u7684\u6587\u5e93\uff0c\u5bcc\u96c6\u6210\u7c07\u540e\u5728Hiseq 2000\u6216Hiseq2500\u4e0a\u5b8c\u6210\u6d4b\u5e8f\u3002<\/div>\n<div>\u68c0\u6d4b\u6307\u6807\u6216\u75be\u75c5\u7c7b\u578b\u5305\u62ec\uff1a\u68c0\u6d4b\u22657Mb\u7684\u5168\u57fa\u56e0\u7ec4\u8303\u56f4\u7684\u62f7\u8d1d\u6570\u53d8\u5f02\uff1b1p36\u7f3a\u5931\u3001\u5c0f\u4e8e7Mb\u7684\u5fae\u7f3a\u5931\uff1bWolf\u2212Hirschhorn\u3001Cri-du-chat\u3001Langer\u2212Giedion\u3001Jacobsen\u3001 Prader\u2212Willi\u3001Angelman\u548cDiGeorge \u7efc\u5408\u5f81\u7b49\u3002<\/div>\n<div>\u00a0<\/div>\n<div>3. 10272\u4f8b\u6837\u672c\u68c0\u6d4b\u7ed3\u679c<\/div>\n<div>\u4ece2015\u5e749\u6708\u52302016\u5e745\u6708\uff0c\u5b8c\u621010,272\u4efd\u6837\u54c1\u6d4b\u5e8f\u3001\u6570\u636e\u5206\u6790\u548c\u4e34\u5e8a\u5b9e\u9a8c\u5ba4\u5206\u6790\u3002<\/div>\n<div>\u9996\u5148\u5728\u6bd4\u8f83\u65b0\u7684\u5168\u57fa\u56e0\u7ec4cfDNA\u7b5b\u67e5\u4e0e\u4f20\u7edfcfDNA\u7b5b\u67e5\u6280\u672f\u4e4b\u524d\uff0c\u770b\u770b\u63d0\u4ea4\u6837\u672c\u7684\u5dee\u5f02\uff1a<\/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\/RmFicvQBAkgDRXWwNl9WMibZRsyJo3ntMet6OUltBOibbyubfR2kwGJNEAy4WiaJZ53DtotFKohmE7H8jaQfJagk3g.png\" alt=\"RmFicvQBAkgDRXWwNl9WMibZRsyJo3ntMet6OUltBOibbyubfR2kwGJNEAy4WiaJZ53DtotFKohmE7H8jaQfJagk3g\"\/><\/figure><\/div>\n\n<\/div>\n<div style=\"text-align: center;\">\u56fe\uff1a\u65b0\u7684\u5168\u57fa\u56e0\u7ec4cfDNA\u7b5b\u67e5\uff08\u5916\u73af\uff09\u4e0e\u4f20\u7edfcfDNA\u7b5b\u67e5\uff08\u5185\u73af\uff09\u7684\u6837\u672c\u7279\u5f81\u6bd4\u8f83\u3002\u56fe\u6765\u81ea\u300aGenetics in Medicine\u300b AMA\uff08advanced maternal age\uff0c\u9ad8\u9f84\u7b56\u5b55\u5987\uff09; AS \uff08abnormal serum screening result;\uff0c\u8840\u6e05\u68c0\u6d4b\u5f02\u5e38\uff09\uff1bHIST\uff08personal and\/or family history \u4e2a\u4eba\u6216\u5bb6\u65cf\u75c5\u53f2\uff09\uff1bUS\uff08abnormal ultrasound finding\uff0c\u8d85\u58f0\u68c0\u6d4b\u5f02\u5e38\uff09\u3002<\/div>\n<div><\/div>\n<div>1\uff09\u6837\u672c\u80ce\u9f84\u5206\u5e03\u76f8\u4f3c\u3002<\/div>\n<div>2\uff09\u6700\u660e\u663e\u7684\u5dee\u5f02\u5728\u4e8e\u63d0\u4ea4AMA\u548c\u8d85\u58f0\u68c0\u67e5\u5f02\u5e38\u7ed3\u679c\u3002 AMA\u662f68% vs 51%\uff0c\u8d85\u58f0\u5f02\u5e38\u662f13% vs 25%\u3002<\/div>\n<div><\/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\/RmFicvQBAkgDRXWwNl9WMibZRsyJo3ntMejRQ4dB8gKz4w5NhqXrRicrNgK8hbLzOiboeOibx3QZDbUry2CTrOg8RZQ.png\" alt=\"RmFicvQBAkgDRXWwNl9WMibZRsyJo3ntMejRQ4dB8gKz4w5NhqXrRicrNgK8hbLzOiboeOibx3QZDbUry2CTrOg8RZQ\"\/><\/figure><\/div>\n\n<div style=\"text-align: center;\">\u56fe\uff1a\u4e0d\u540c\u7c7b\u578b\u6837\u672c\u4e2d\u9633\u6027\u68c0\u6d4b\u7ed3\u679c\u6bd4\u4f8b\u548c\u53d1\u751f\u7387\u3002<\/div>\n<div>\u4e00\u5171\u62a5\u544a\u4e86554\u4f8b\u7b5b\u67e5\u9633\u6027\u68c0\u6d4b\u7ed3\u679c\uff0c\u7b5b\u67e5\u9633\u6027\u7387\u7ea6\u4e3a5.4\uff05\uff08\u4f20\u7edfcfDNA\u7b5b\u67e5\u4e3a2.3\uff05\uff09\u3002\u5f02\u5e38\u8d85\u58f0\u68c0\u67e5\u7ed3\u679c\u7b5b\u67e5\u9633\u6027\u7387\u9ad8\u8fbe\u301c11\uff05\uff0c\u4e2a\u4eba\u6216\u5bb6\u65cf\u53f2\u7c7b\u7b5b\u67e5\u9633\u6027\u7387\u4f4e\u4e8e4\uff05\u3002\u5177\u6709\u7279\u5b9a\u7ec4\u5408\u7684\u9ad8\u5371\u6307\u6807\u7684\u6837\u672c\u663e\u793a\u975e\u5e38\u9ad8\u7684\u7b5b\u67e5\u9633\u6027\u7387\u3002\u4f8b\u5982\uff0c\u5728\u63d0\u4ea4\u4e3aAMA\u548c\u8d85\u58f0\u5f02\u5e38\u7684\u6837\u672c\u4e2d\uff0c\u9633\u6027\u7387\u4e3a23\uff05\uff0c\u9ad8\u4e8e\u666e\u901a\u9ad8\u5371\u4eba\u7fa4\u7684\u9884\u671f\u503c\u3002<\/div>\n<div>\u5728\u9633\u6027\u7ed3\u679c\u91cc\uff0c\u4f20\u7edfcfDNA\u7b5b\u9009\uff08\u5305\u62ec\u67d3\u8272\u4f5313,18\u548c21\u67d3\u8272\u4f53\u4e09\u500d\u4f53\u548c\u6027\u67d3\u8272\u4f53\u975e\u6574\u500d\u4f53\uff09\u6709390\u4f8b\uff0c\u4ec5\u901a\u8fc7\u5168\u57fa\u56e0\u7ec4\u7684cfDNA\u7b5b\u9009\u53d1\u73b0\u7684\u6709164\u4f8b\uff0c\u5360\u5230\u6240\u6709\u9633\u6027\u7ed3\u679c\u6837\u672c\u6570\u76ee\u7684\u7ea630\uff05\uff0c\u5305\u62ec\u6574\u4e2a\u57fa\u56e0\u7ec4\u4e2d\u7684\u5927\uff08\u22657Mb\uff09\u4e9a\u67d3\u8272\u4f53\u548c\/\u6216\u5168\u67d3\u8272\u4f53\u975e\u6574\u500d\u4f53\u3002<\/div>\n<div>\u4e3a\u4e86\u8003\u8651\u4e0d\u540c\u6307\u6807\u6837\u672c\u7684\u5dee\u5f02\u6027\u3002\u5bf9\u4e8e\u4ee5\u4e0a\u56db\u7c7b\u6837\u672c\uff08AMA, US, AS, HIST\uff09\u8fdb\u884c\u5355\u72ec\u5206\u6790\uff1a\u5728\u5177\u6709\u4e2a\u4eba\u6216\u5bb6\u65cf\u53f2\uff08HIST\uff09\u7684\u6837\u672c\u4e2d\uff0c\u7ea650%\u662f\u4ec5\u901a\u8fc7\u5168\u57fa\u56e0\u7ec4\u7b5b\u67e5\u53d1\u73b0\u7684\u3002\u5728\u9ad8\u9f84\u5b55\u5987\uff08AMA\uff09\u6837\u54c1\u4e2d\uff0c\u8fd9\u4e00\u6bd4\u4f8b\u4e3a38\uff05\u3002\u4f17\u6240\u5468\u77e5\uff0c\u8d85\u58f0\u548c\u8840\u6e05\u7b5b\u67e5\u662f\u7740\u91cd\u7528\u4e8e\u9274\u5b9a18\u4e09\u4f53\u548c21\u4e09\u4f53\u7684\u9ad8\u98ce\u9669\u598a\u5a20\uff08\u76f8\u5bf9\u4e8e13\u4e09\u4f53\u800c\u8a00\uff09\u3002\u800c\u672c\u7814\u7a76\u4e2d\u9633\u6027\u6837\u672c\u4e3a\u8d85\u58f0\u68c0\u6d4b\u7ed3\u679c\u5f02\u5e38\uff08US\uff09\u548c\/\u6216\u8840\u6e05\u7b5b\u67e5\u5f02\u5e38\uff08AS\uff09\u5728\u4e09\u79cd\u5e38\u67d3\u8272\u4f53\u975e\u6574\u500d\u4f53\u4e2d\u90fd\u5bcc\u96c6\uff0c58\uff05\u4e3aUS\uff0c51\uff05\u4e3aAS\u3002<\/div>\n<div>\u00a0<\/div>\n<div>\u5171\u670980\u4e2a\u6837\u54c1\u7b5b\u9009\u51fa13,18\u548c21\u53f7\u67d3\u8272\u4f53\u4ee5\u5916\u7684\u5e38\u67d3\u8272\u4f53\u975e\u6574\u500d\u4f53\u3002\u6bd4\u4f8b\u8f83\u9ad8\u7684\u67d3\u8272\u4f53\u5f02\u5e38\u5305\u62ec16\u53f7\u67d3\u8272\u4f53\uff0815\u4f8b\uff09\uff0c7\u53f7\u67d3\u8272\u4f53\uff0811\u4f8b\uff09\u548c3\u53f7\u67d3\u8272\u4f53\uff0810\u4f8b\uff09\u3002\u9664\u4e8645X\u4ee5\u5916\uff0c\u6ca1\u6709\u53d1\u73b0\u5176\u4ed6\u5355\u4f53\u578b\u3002<\/div>\n<div>\u65e0\u8bba\u662f\u7ed2\u6bdb\u819c\u7ed2\u6bdb\u53d6\u6837\u8fd8\u662fcfDNA\u68c0\u6d4b\uff0c\u5747\u5047\u5b9a\u80ce\u76d8\u7684\u9057\u4f20\u6784\u6210\u4e0e\u80ce\u513f\u76f8\u540c\uff0c\u4f46\u5728\u6781\u5c11\u6570\u60c5\u51b5\u4e0b\uff0c\u7531\u4e8e\u80ce\u76d8\u5d4c\u5408\u6709\u53ef\u80fd\u5b58\u5728\u4e0d\u4e00\u81f4\u7684\u60c5\u51b5\u3002\u5728\u672c\u6b21\u68c0\u6d4b\u4e2d\uff0c\u901a\u8fc7\u5bf9\u5206\u6790SeqFF(\u57fa\u4e8e\u6d4b\u5e8f\u7684\u7247\u6bb5\u6570\u76ee) \u548c\u80ce\u513f\u6e38\u79bbDNA\u7247\u6bb5\u6bd4\u503c\uff08fetal fraction\uff09\u53d1\u73b0\u53ef\u80fd\u7684\u80ce\u76d8\u5d4c\u5408\u7684\u60c5\u51b5\u3002<\/div>\n<div>\u9664\u4e8617\u548c19\u53f7\u67d3\u8272\u4f53\u5916\uff0c\u6240\u6709\u5e38\u67d3\u8272\u4f53\u4e0a\u90fd\u53d1\u73b0\u4e9a\u67d3\u8272\u4f53\u4e8b\u4ef6\u3002\u4e3a\u4e86\u89e3\u91ca\u9884\u6d4b\u7684\u62f7\u8d1d\u6570\u53d8\u5f02\u5927\u5c0f\uff0c\u5fc5\u987b\u8003\u8651\u68c0\u6d4b\u9650\u5236\u3002\u8be5\u68c0\u6d4b\u8bbe\u8ba1\u4e3a\u4ec5\u5728\u5927\u4e8e7Mb\uff08G\u5e26\u67d3\u8272\u4f53\u5206\u6790\u7684\u5178\u578b\u5206\u8fa8\u7387\u6c34\u5e73\uff09\u65f6\u624d\u80fd\u9884\u6d4b\u5168\u57fa\u56e0\u7ec4\u62f7\u8d1d\u6570\u91cd\u590d\u548c\u7f3a\u5931\uff0c\u4ee5\u786e\u4fdd\u9ad8\u5206\u6790\u7075\u654f\u5ea6\u548c\u6700\u5c0f\u5316\u89e3\u91ca\u6311\u6218\u3002\u5f53\u4e14\u4ec5\u5f53\u4e0e\u4e00\u7ec4\u4e34\u5e8a\u76f8\u5173\u7684\u5fae\u7f3a\u5931\u76f8\u5173\u8054\u65f6\uff0c\u6216\u8005\u5f53\u88ab\u53d1\u73b0\u4e3a\u4e0e\u8f83\u5927\u7684\u7f3a\u5931\u6216\u91cd\u590d\u7684\u9884\u6d4b\u76f8\u5173\u8054\u7684\u65f6\uff0c\u5b9e\u9a8c\u5ba4\u4e3b\u4efb\u5728\u8fdb\u4e00\u6b65\u786e\u8ba4\u4e4b\u540e\uff0c\u624d\u62a5\u544a\u8be5\u4e8b\u4ef6\u3002<\/div>\n<div>\u00a0<\/div>\n<div>4. \u8ba8\u8bba\u70b9<\/div>\n<div>\u603b\u7684\u6765\u8bf4\uff0c\u5168\u57fa\u56e0\u7ec4cfDNA\u7b5b\u67e5\u7684\u9633\u6027\u7387\uff085.4%\uff09\u7ea6\u4e3a\u9ad8\u98ce\u9669\u4eba\u7fa4\u4f20\u7edfcfDNA\u7b5b\u67e5\u76842-3\u500d\uff082-3\uff05\uff09\u3002<\/div>\n<div>\u591a\u56e0\u7d20\u8bc4\u4f30\u65b9\u6848\u6709\u4e00\u4e2a\u7f3a\u70b9\uff0c\u7531\u4e8e\u591a\u91cd\u5047\u8bbe\u68c0\u9a8c\u5f15\u8d77\u7684\u4e0d\u53ef\u907f\u514d\u9ad8\u5047\u9633\u6027\u7387\u3002\u8fd9\u9879\u7814\u7a76\u4e2d\u4f7f\u7528\u4e86\u6570\u5b66\u5206\u6790\u7b97\u6cd5\uff0c\u964d\u4f4e\u5047\u9633\u6027\u7387\u3002<\/div>\n<div>\u5bf9\u4e8e\u5168\u57fa\u56e0\u7ec4cfDNA\u7b5b\u67e5\u7684\u9633\u6027\u7ed3\u679c\u4e2d\uff0c\u6709\u7ea630\uff05\u662f\u4f20\u7edfcfDNA\u7b5b\u67e5\u65e0\u6cd5\u68c0\u51fa\u7684\u3002\u5176\u4e2d\u5305\u542b\u5177\u6709\u4e0d\u6b62\u4e00\u5904\u7684\u78b1\u57fa\u7f3a\u5931\u548c\/\u6216\u91cd\u590d\u7684\u6837\u672c\uff0c\u53ef\u80fd\u4f1a\u51fa\u73b0\u4e0d\u5e73\u8861\u6613\u4f4d\u3002\u5c3d\u7ba1\u4e0d\u80fd\u76f4\u63a5\u68c0\u6d4b\u5230\u4e0d\u5e73\u8861\u6613\u4f4d\uff0c\u4f46\u5b83\u4eec\u4f3c\u4e4e\u9075\u5faa\u7279\u5b9a\u7684\u6a21\u5f0f\uff0c\u6709\u5fc5\u8981\u8fdb\u4e00\u6b65\u7814\u7a76\u3002<\/div>\n<div>\u00a0<\/div>\n<div>\u5c3d\u7ba1\u5168\u57fa\u56e0\u7ec4cfDNA\u7b5b\u67e5\u8d21\u732e\u4e8630%\u7684\u9633\u6027\u7387\uff0c\u4f46\u662f\u76ee\u524d\u5c1a\u6ca1\u6709\u6307\u5357\u63a8\u8350\u5168\u57fa\u56e0\u7ec4cfDNA\u7b5b\u67e5\u4f5c\u4e3a\u5e38\u89c4\u68c0\u6d4b\u624b\u6bb5\uff0c\u66f4\u591a\u7684\u5de5\u4f5c\u8fd8\u9700\u8981\u5f00\u5c55\uff0c\u7efc\u5408\u591a\u56e0\u7d20\u8bc4\u4f30\u3002\uff08\u7f16\u8005\u6ce8\uff1a\u65e0\u521b\u4ea7\u524d\u68c0\u6d4b\/\u7b5b\u67e5\u662f\u6700\u5148\u4e5f\u662f\u6700\u6210\u719f\u7684\u57fa\u56e0\u68c0\u6d4b\u5927\u89c4\u6a21\u4e34\u5e8a\u5e94\u7528\uff0c\u636e\u516c\u5f00\u6570\u636e\u56fd\u5185\u673a\u6784\u5df2\u68c0\u6d4b\u8d85\u8fc7300\u4e07\u7684\u6837\u672c\u3002\u8fd9\u4e9b\u6837\u672c\u6570\u636e\u7684\u6574\u7406\u3001\u6316\u6398\u548c\u4e00\u5b9a\u5f62\u5f0f\u4e0a\u7684\u5206\u4eab\uff0c\u5bf9\u884c\u4e1a\u89c4\u8303\u3001\u5e94\u7528\u62d3\u5c55\u3001\u7279\u522b\u662f\u5bf9\u4e8e\u4e2d\u56fd\u751f\u80b2\u5065\u5eb7\u4eba\u7fa4\u7684\u4e2a\u4f53\u5316\u6570\u636e\u5206\u6790\u4ee5\u53ca\u4e00\u7ea7\u9884\u9632\u5c06\u662f\u91cd\u5927\u5229\u597d\u3002\uff09<\/div>\n<div>\u00a0<\/div>\n<div>\u53c2\u8003\u6587\u732e\uff1a<\/div>\n<div>1. Bianchi DW, Chudova D, Sehnert AJ, et al. Noninvasive prenatal testing and incidental detection of occult maternal malignancies. JAMA 2015;314:162\u2212169.\u00a0<\/div>\n<div>2. Norton ME, Jacobsson B, Swamy GK, et al. Cell-free DNA analysis for noninvasive examination of trisomy. N Engl J Med 2015;372:1589\u22121597.\u00a0<\/div>\n<div>3. Nicolaides KH, Syngelaki A, Gil M, Atanasova V, Markova D. Validation of targeted sequencing of single-nucleotide polymorphisms for non-invasive prenatal detection of aneuploidy of chromosomes 13, 18, 21, X, and Y. Prenat Diagn 2013;33:575\u2212579.\u00a0<\/div>\n<div>4. Jensen TJ, Zwiefelhofer T, Tim RC, et al. High-throughput massively parallel sequencing for fetal aneuploidy detection from maternal plasma. PLoS ONE 2013;8:e57381.\u00a0<\/div>\n<div>5. Mazloom AR, D\u017eakula \u017d, Oeth P, et al. Noninvasive prenatal detection of sex chromosomal aneuploidies by sequencing circulating cell-free DNA from maternal plasma. Prenat Diagn 2013;33:591\u2212597.<\/div>\n<div>6. Norton ME, Baer RJ, Wapner RJ, Kuppermann M, Jelliffe-Pawlowski LL, Currier RJ. Cell-free DNA vs sequential screening for the detection of fetal chromosomal abnormalities. Am J Obstet Gynecol 2016;214: 727.e1\u2212e727.e6.<\/div>\n<div>\u00a0<\/div>\n<div>\u56de\u590d\u201cNIPS\u201d\u53ef\u5f97\u6587\u732epdf\uff1a\u300aGenome-wide cfDNA screening: clinical laboratory\u00a0experience with the first 10,000 cases\u00a0\u300b<\/div>\n<div>\u00a0<\/div>\n<div>\u60a8\u53ef\u80fd\u8fd8\u4f1a\u611f\u5174\u8da3\u7684\uff1a<\/div>\n<div><a href=\"https:\/\/mp.weixin.qq.com\/s?__biz=MzIzMzE4MzU3NA==&amp;mid=2651631425&amp;idx=1&amp;sn=1e2b24fd37016f5babe5eece7fa0e5c7&amp;chksm=f3718f78c406066e6b5c042fa1413e79e3d5ba641c525d6f785f003a270295980949945066e8&amp;mpshare=1&amp;scene=1&amp;srcid=06145p2zMkFeOS5pfl4nYVvj&amp;pass_ticket=jEt0C5j7d6rXzKEzZSTc%2F6vcw3s8XpwWFwSnKP9pB3%2BMD9S4CIbULwf9weLz8LP7&amp;scene=21#wechat_redirect\">\u2606\u00a0\u00a0NGS\u5728\u9057\u4f20\u75c5\u8bca\u65ad\u4e2d\u7684\u5e94\u7528<\/a><\/div>\n<div>\u2606\u00a0<a href=\"https:\/\/mp.weixin.qq.com\/s?__biz=MzI3NjUzOTM1Mg==&amp;mid=2247484368&amp;idx=1&amp;sn=d577b75c74744f1cfa0ab9efb989a145&amp;chksm=eb72b167dc053871901e680d7a4fc81053be90cf8d609fff080b7015dc02895f75a59b4e940a&amp;mpshare=1&amp;scene=1&amp;srcid=061494p15ZV0OecIjMNGpKW5&amp;pass_ticket=jEt0C5j7d6rXzKEzZSTc%2F6vcw3s8XpwWFwSnKP9pB3%2BMD9S4CIbULwf9weLz8LP7&amp;scene=21#wechat_redirect\">\u00a09\u4e2a\u6545\u4e8b\u79d1\u666e\u57fa\u56e0\u68c0\u6d4b\u7528\u5904<\/a><\/div>\n<div><a href=\"http:\/\/mp.weixin.qq.com\/s?__biz=MzIzMzE4MzU3NA==&amp;mid=2651632688&amp;idx=1&amp;sn=e389e9621a4f7c186ae3c8312b43d2b7&amp;chksm=f3719409c4061d1f3fd4a64a2cdd6f4977f353fc50f3f5bf9d7cf20f865819948f1a5a68ef3f&amp;scene=21#wechat_redirect\">\u2606 \u00a0\u9ec4\u5c1a\u5fd7\u6559\u6388\u8c08\u9057\u4f20\u54a8\u8be2\u4f53\u7cfb\u5efa\u8bbe<\/a><\/div>\n<div><a href=\"http:\/\/mp.weixin.qq.com\/s?__biz=MzIzMzE4MzU3NA==&amp;mid=2651633066&amp;idx=1&amp;sn=381de9a0e18d1355eb0528e82b7a973a&amp;chksm=f3719593c4061c855999d3b8c1155944e234c0852fe8c8734b69c320a3f6be1cdd17192ca15f&amp;scene=21#wechat_redirect\">\u2606 \u00a0\u897f\u5357\u533b\u9662\u5987\u4ea7\u79d1\u6881\u5fd7\u6e05\u4e3b\u4efb\u4e13\u8bbf<\/a><\/div>\n<div><a href=\"http:\/\/mp.weixin.qq.com\/s?__biz=MzIzMzE4MzU3NA==&amp;mid=2651630391&amp;idx=1&amp;sn=f2066a9ad96575432152d278641ec9db&amp;scene=21#wechat_redirect\">\u2606 \u00a0\u534e\u5927\u57fa\u56e0\u738b\u5a01\u8c08\u9057\u4f20\u75c5\u643a\u5e26\u8005\u7b5b\u67e5\u6280\u672f<\/a><\/div>\n<div><a href=\"http:\/\/mp.weixin.qq.com\/s?__biz=MzIzMzE4MzU3NA==&amp;mid=2651632998&amp;idx=2&amp;sn=0db96968719a66b8d05b45210efed1fd&amp;chksm=f371955fc4061c4920129c0177ec23b3aff19e3a89131270bd90ed4f8e41fa953da81acb46bb&amp;scene=21#wechat_redirect\">\u2606 \u00a0\u9ec4\u6d9b\u751f\u6559\u6388\u8c08\u201c\u4e09\u4eb2\u5a74\u513f\u201d\u548c\u7ebf\u7c92\u4f53\u75c5<\/a><\/div>\n<div><a href=\"http:\/\/mp.weixin.qq.com\/s?__biz=MzIzMzE4MzU3NA==&amp;mid=2651633145&amp;idx=1&amp;sn=ec65fa3796b679c27f94431fe5568385&amp;chksm=f37195c0c4061cd6648e1fed8af5d1793dd39cf92b6e2fbf66b8839534d4ec733a54d2db8033&amp;scene=21#wechat_redirect\">\u2606 \u00a0\u57fa\u56e0\u884c\u4e1a\u300a\u9ec4\u91d1\u5341\u5e74\u300b\u884c\u4e1a\u8d5b\u9053\u5206\u6790<\/a><\/div>\n<div>\u2606\u00a0\u00a0<a href=\"https:\/\/mp.weixin.qq.com\/s?__biz=MzI3NjUzOTM1Mg==&amp;mid=2247484291&amp;idx=1&amp;sn=fc660d68d5eeb0997cfe8657399ce3b2&amp;chksm=eb72b134dc0538228d2a8ba9033f26850a35e84acc890b18e90fae89408f2d30b40fab5b6fc7&amp;mpshare=1&amp;scene=1&amp;srcid=0615KwffNf65dSrlpI34fCBt&amp;pass_ticket=M3tlVFuddVyZ9D4lrfdgHD7qou5mmbt9FGcmtP41XSEGea7VoSmy%2F7vj4HeS9HC0#rd\">\u57fa\u56e0\u6167\u4e3a\u725b\u6d25\u5927\u5b66\u6559\u6388\u8457\u300a\u57fa\u56e0\u7ec4\u9769\u547d\u300b\u4f5c\u5e8f<\/a>\u00a0<\/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\/RmFicvQBAkgC0avckNia9q4ZYtSsGWlTxlSjuIocJWRhNOLgBHDRXibCk61GiappiaVc0dMibibnFmEJxX1rA2ZR3wzGQ.gif\" alt=\"RmFicvQBAkgC0avckNia9q4ZYtSsGWlTxlSjuIocJWRhNOLgBHDRXibCk61GiappiaVc0dMibibnFmEJxX1rA2ZR3wzGQ\"\/><\/figure><\/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\/Hu8hctxHqSW0nSJn8p8OHVEQwHicSwTibFBFJric9nkftE0wcGF6aGIgNchOnr3xYz7gGQmrZmex7xm3ly75qWlbw.jpg\" alt=\"Hu8hctxHqSW0nSJn8p8OHVEQwHicSwTibFBFJric9nkftE0wcGF6aGIgNchOnr3xYz7gGQmrZmex7xm3ly75qWlbw\"\/><\/figure><\/div>\n\n<div>I want you<\/div>\n<div>\u5a92\u4f53\u7f16\u8f91\/\u884c\u4e1a\u5206\u6790\u5e08\/\u4e92\u8054\u7f51\u4ea7\u54c1\u8fd0\u8425\/BD<\/div>\n<div>\u57fa\u56e0\u6167\uff08\u6df1\u5733\u3001\u5317\u4eac\uff09\u7b49\u60a8\u6765 info@genonet.cn<\/div>\n<div><\/div>\n<div><\/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\/yqVAqoZvDibGMvjoQTUCJ0VQHV3uTQPibF1JKwG0ljK3ySSVYpov49Jx0pGFKkxicoKfRAqO8BaDdiamx2hQvsJxCw.jpg\" alt=\"yqVAqoZvDibGMvjoQTUCJ0VQHV3uTQPibF1JKwG0ljK3ySSVYpov49Jx0pGFKkxicoKfRAqO8BaDdiamx2hQvsJxCw\"\/><\/figure><\/div>\n\n<div>Tips\uff1a\u6b22\u8fce\u7559\u8a00\u8ba8\u8bba\uff0c\u6bcf\u5468\u5bf9\u4f18\u79c0\u7559\u8a00\u8005\u8d60\u9001\u300a\u57fa\u56e0\u7ec4\u9769\u547d\u300b\uff08\u725b\u6d25\u5927\u5b66\u6559\u63882016\u5e74\u51fa\u7248\uff0c\u57fa\u56e0\u6167\u4f5c\u5e8f\uff09\u7eb8\u8d28\u4e66\u7c4d\u4e00\u672c\u3002<\/div>\n<div><\/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\/cZV2hRpuAPhrxQU1opLkENnCB9ArIxUwWq26RwicbQNpQN3ubDHibBSJfI6PzP0icQfn0s21DvR4xKYyPEs741UXQ.jpg\" alt=\"cZV2hRpuAPhrxQU1opLkENnCB9ArIxUwWq26RwicbQNpQN3ubDHibBSJfI6PzP0icQfn0s21DvR4xKYyPEs741UXQ\"\/><\/figure><\/div>\n\n<\/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\/RmFicvQBAkgDibFpXLmDUiayOs0bRyXN9FaL3SCzoc0mM9YSLFMLmKgac4Q3eFzWEGS3xgW3LMOUicf9cJStdlwYhQ.jpeg\" alt=\"RmFicvQBAkgDibFpXLmDUiayOs0bRyXN9FaL3SCzoc0mM9YSLFMLmKgac4Q3eFzWEGS3xgW3LMOUicf9cJStdlwYhQ\"\/><\/figure><\/div>","protected":false},"excerpt":{"rendered":"<p>Sequenom\u4e34\u5e8a\u5b9e\u9a8c\u5ba4\u7ed3\u679c<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[9],"tags":[2152],"class_list":["post-10963","post","type-post","status-publish","format-standard","hentry","category-industryresearch","tag-2152"],"_links":{"self":[{"href":"https:\/\/www.geneclub.net.cn\/index.php\/wp-json\/wp\/v2\/posts\/10963","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.geneclub.net.cn\/index.php\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.geneclub.net.cn\/index.php\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.geneclub.net.cn\/index.php\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.geneclub.net.cn\/index.php\/wp-json\/wp\/v2\/comments?post=10963"}],"version-history":[{"count":3,"href":"https:\/\/www.geneclub.net.cn\/index.php\/wp-json\/wp\/v2\/posts\/10963\/revisions"}],"predecessor-version":[{"id":14480,"href":"https:\/\/www.geneclub.net.cn\/index.php\/wp-json\/wp\/v2\/posts\/10963\/revisions\/14480"}],"wp:attachment":[{"href":"https:\/\/www.geneclub.net.cn\/index.php\/wp-json\/wp\/v2\/media?parent=10963"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.geneclub.net.cn\/index.php\/wp-json\/wp\/v2\/categories?post=10963"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.geneclub.net.cn\/index.php\/wp-json\/wp\/v2\/tags?post=10963"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}