{"id":44627,"date":"2019-07-22T11:30:57","date_gmt":"2019-07-22T02:30:57","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-treatise2\/"},"modified":"2024-12-10T16:35:17","modified_gmt":"2024-12-10T07:35:17","slug":"nipt-treatise2","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-treatise2\/?lang=zh-hans","title":{"rendered":"NIPT\u8bba\u6587\uff08\u7b2c2\u7ae0\uff09"},"content":{"rendered":"\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_84 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">\u76ee\u6b21<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span 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class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>\u300c\u65b0\u4e00\u4ee3\u6d4b\u5e8f\u300d\uff08NGS\uff09\u4e00\u8bcd\uff0c\u5f15\u53d1\u4e86\u5173\u4e8e\u300c\u7b2c\u4e00\u4ee3\u6d4b\u5e8f\u300d\u662f\u4ec0\u4e48\u6837\u5b50\uff0c\u4ee5\u53caNGS\u4e0e\u7b2c\u4e00\u4ee3\u6709\u4ec0\u4e48\u76f8\u4f3c\u548c\u4e0d\u540c\u7b49\u95ee\u9898\u3002\u6851\u683c\u57281970\u5e74\u4ee3\u5f00\u53d1\u4e86\u7b2c\u4e00\u4ee3DNA\u6d4b\u5e8f\u6280\u672f\uff08\u53c2\u8003\u6587\u732e1\uff0c2\uff09\u3002\u4f7f\u4ed6\u540d\u58f0\u5927\u566a\u7684\u6d4b\u5e8f\u65b9\u6cd5\u6d89\u53ca\u5728\u4f53\u5916\u4f7f\u7528\u7ec6\u80de\u7e41\u6b96\u5668\uff0c\u6210\u529f\u5730\u6269\u5c55\u4e86\u65e0\u6cd5\u6269\u5c55\u7684DNA\u78b1\u57fa\u3002\u8fd9\u6837\u53d8\u66f4\u540e\u52a0\u5165\u7684\u78b1\u57fa\uff0c\u5728\u67d0\u4e9b\u7269\u8d28\u53c2\u4e0e\u6700\u5c11\u7684\u53cd\u5e94\u6761\u4ef6\u4e0b\uff0c\u4ee5\u4f4e\u6d53\u5ea6\u6dfb\u52a0\u3002\u5177\u4f53\u800c\u8a00\uff0c(1)\u9ad8\u6d53\u5ea6\u7684\uff0c\u53ef\u5ef6\u4f38\u78b1\u57fa\uff0c(2)\u5355\u94feDNA\uff0c\u7136\u540e\u8fdb\u884c\u6d4b\u5e8f\uff0c(3)\u4f5c\u4e3aDNA\u6a21\u677f\u8865\u5145\u7684\u77ed\u5be1\u6838\u82f7\u9178\u5f15\u7269\uff08\u65b0\u78b1\u57fa\u53ef\u5728\u6a21\u677f\u4e0a\u5408\u6210\uff09\uff0c\u4ee5\u53ca(4)4\u79cd\u7c7b\u578b\u7684DNA\u805a\u5408\u9176\uff0c\u4e0d\u540c\u5730\u5206\u5e03\u5ef6\u4f38\u53cd\u5e94\u3002\u5728\u6851\u683c\u7684\u65e9\u671f\u6d4b\u5e8f\u5b9e\u9a8c\u4e2d\uff0c\u8fd94\u79cd\u7c7b\u578b\u7684\u53cd\u5e94\u5206\u522b\u4ee5\u5355\u4e00\u7684\u3001\u4e0d\u53ef\u5ef6\u4f38\u7684\u78b1\u57fa\uff08A\uff08\u817a\u560c\u5464\uff09\u3001T\uff08\u80f8\u817a\u5627\u5576\uff09\u3001G\uff08\u9e1f\u560c\u5464\uff09\u6216C\uff08\u80de\u5627\u5576\uff09\uff09\u3002\u6bcf\u5f53\u805a\u5408\u9176\u5bfc\u81f4\u5176\u4e2d\u4e00\u4e2a\u4e0d\u53ef\u5ef6\u4f38\u7684\u78b1\u57fa\u5728\u53d1\u751f\u9636\u6bb5\u968f\u673a\u5408\u6210\u4e3aDNA\u5206\u5b50\u65f6\uff08\u4f8b\u5982\uff0c\u5f53\u53d1\u751f\u9636\u6bb5\u7684\u4e0d\u53ef\u5ef6\u4f38\u7684G\u4e0e\u53e6\u4e00\u4fa7\u7684DNA\u6a21\u677f\u4e2d\u7684C\u5408\u6210\u65f6\uff09\u5b83\u5c31\u4f1a\u8bd5\u56fe\u505c\u6b62\u8fdb\u4e00\u6b65\u7684\u5408\u6210\uff0c\u56e0\u6b64\u4f1a\u518d\u751f\u51fa\u4e00\u4e2a\u6ca1\u6709\u9888\u90e8\u7684\u6a21\u677f\u3002\u8fd9\u91cc\u6781\u5176\u91cd\u8981\u7684\u662f\uff0c\u7531\u4e8e\u53d1\u80b2\u9636\u6bb5\u7684\u6240\u6709\u94fe\u90fd\u662f\u9759\u6b62\u7684\uff0c\u5e76\u4ece\u540c\u4e00\u4e2a\u5be1\u6838\u82f7\u9178\u5f15\u7269\u4e2d\u6269\u589e\uff0c\u6269\u589e\u9636\u6bb5\u505c\u6b62\uff0c\u56e0\u6b64\u53d1\u751f\u9636\u6bb5\u7684DNA\u94fe\u7684\u957f\u5ea6\uff0c\u8be5\u5206\u5b50\u76843&#8217;\u672b\u7aef\u7684\u57fa\u76d8\u76f4\u63a5\u53d8\u4e3a\u4ee3\u7406\u53d8\u6570\u3002\u8fd94\u79cd\u6bcf\u4e00\u79cd\u53cd\u5e94\uff0c\u4f7f\u7528\u7528\u4e8e\u505c\u6b62\u5408\u6210\u5206\u5b50\u957f\u5ea6\u7684\u7535\u6cf3\u51dd\u80f6\u6765\u8fdb\u884c\u5206\u6790\uff0c\u6765\u63a8\u65ad\u51fa\u6574\u4e2a\u6a21\u677f\u7684\u5e8f\u5217\u6210\u4e3a\u53ef\u80fd\u3002<br>\u6851\u683c\u7684\u6d4b\u5e8f\uff0c\u5728\u5f15\u5165\u5177\u6709\u72ec\u7279\u8272\u7d20\u5e76\u5bfc\u5165\u4e0d\u80fd\u6269\u5f20\u7684\u57fa\u76d8\u4e2d\uff0c\u4f7f\u6d4b\u5e8f\u7684\u53ef\u6269\u5c55\u6027\u7565\u6709\u63d0\u9ad8\uff08\u56fe1\uff09\u3002\u4e0e\u5176\u8bf4\u662f\u901a\u8fc7\u5212\u52064\u4e2a\u53cd\u5e94\u6765\u83b7\u5f97\u78b1\u57fa\u7279\u5f02\u6027\u4fe1\u606f\uff0c\u4e0d\u5982\u8bf4\u662f\u901a\u8fc7\u4f7f\u7528\u6bdb\u7ec6\u7ba1\u7535\u6cf3\u4e0e\u8367\u5149\u8272\u7d20\u68c0\u6d4b\u5668\u76f8\u7ed3\u5408\uff0c\u6765\u63d0\u4f9bDNA\u7247\u6bb5\u7684\u76f8\u5bf9\u5927\u5c0f\u548c\u505c\u6b62\u6269\u5f20\u7684\u57fa\u76d8\u7684\u6b63\u4f53\u8fd9\u4e24\u79cd\u65b9\u5f0f\u8fdb\u884c\u5206\u6790\uff08\u6587\u732e3\uff5e5\uff09\u3002\u4ee5\u4e0d\u80fd\u6d4b\u91cf\u4e3a\u7406\u7531\u6765\u6279\u5224\u8fd9\u4e2a\u4eea\u5668\u7684\u4eba\uff0c\u4e0d\u80fd\u5ffd\u7565\u4e86\u5b83\u4eec\u6240\u53d6\u5f97\u7684\u4e00\u4e2a\u4e0d\u5c0f\u7684\u6210\u5c31\u3002\u6362\u8a00\u4e4b\uff0c\u8fd9\u4e9b\u4eea\u5668\u63a8\u52a8\u4e861990\u5e74\u4ee3\u65e9\u671f\u4eba\u7c7b\u57fa\u56e0\u7ec4\u6d4b\u5e8f\u7684\u53d1\u5c55\uff08\u6587\u732e6\uff5e9\uff09\u3002\u4e5f\u5c31\u662f\u8bf4\uff0c\u8003\u8651\u5230\u6570\u5341\u4ebf\u7f8e\u5143\u7684\u6210\u672c\u548c\u591a\u5e74\u7684\u65f6\u95f4\u6846\u67b6\uff0c\u5982\u679c\u6ca1\u6709\u91cd\u5927\u7684\u6280\u672f\u7a81\u7834\uff0c\u57fa\u56e0\u7ec4\u6d4b\u5e8f\u53ef\u80fd\u5728\u4e34\u5e8a\u73af\u5883\u4e2d\uff0c\u57fa\u672c\u4e0a\u65e0\u6cd5\u4f7f\u7528\u7684\u3002<br>\u5c3d\u7ba1\u65b0\u4e00\u4ee3\u6d4b\u5e8f\uff08NGS\uff09\u4e0e\u6851\u683c\u5f0f\u76f8\u6bd4\u514b\u670d\u4e86\u8bb8\u591a\u6280\u672f\u7684\u754c\u9650\uff0c\u4f7f\u57fa\u56e0\u7ec4\u6d4b\u5e8f\u53d1\u751f\u4e86\u9769\u547d\u6027\u7684\u53d8\u5316\uff08\u6587\u732e10\uff09\uff0c\u4f46NGS\u6700\u77e5\u540d\u7684\u65b9\u6cd5\u4ecd\u7136\u4e3b\u8981\u5305\u62ec\u90a3\u4e9b\u4e0e\u8fc7\u53bb\u6280\u67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class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%96%B0%E4%B8%80%E4%BB%A3%E6%B5%8B%E5%BA%8F%E7%9A%84%E4%BD%9C%E7%94%A8\"><\/span>\u65b0\u4e00\u4ee3\u6d4b\u5e8f\u7684\u4f5c\u7528<span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>\u65b0\u4e00\u4ee3\u6d4b\u5e8f\u8bbe\u5907\u7684\u4f5c\u7528\uff0c\u662f\u5c06\u4e13\u95e8\u5236\u4f5c\u7684DNA\u5206\u5b50\u5e93\u63d0\u70bc\u6210\u4e00\u4e2a\u957f\u6587\u672c\u6587\u4ef6\u5e8f\u5217\u3002\u8be5\u6587\u672c\u6587\u4ef6\uff0c\u5bf9\u6bcf\u4e2a\u88ab\u6d4b\u5e8f\u7684\u5206\u5b50\u90fd\u662f\u5355\u884c\u3002\u4f7f\u7528\u65b0\u4e00\u4ee3\u6d4b\u5e8f\u4eea\uff0c\u5c06\u5206\u5b50\u6620\u5c04\u5230\u6587\u672c\u6587\u4ef6\u7684\u8303\u56f4\uff0c\u5305\u62ec\u4f7f\u7528Broccoli\u8fdb\u884cRNA\u6d4b\u5e8f\uff08\u6587\u732e11\uff09\uff0c\u5230\u6838\u7cd6\u4f53\u5206\u6790\uff08\u4e00\u79cd\u52a0\u5165\u6838\u7cd6\u4f53\u7684mRNA\u7247\u6bb5\u7684\u6df1\u5ea6\u6d4b\u5e8f\u65b9\u6cd5\u3002\u6587\u732e12\uff09\uff0c\u4ee5\u53ca\u5b55\u5987NIPT\u68c0\u6d4b\u4e2d\u7684DNA\u6d4b\u5e8f\uff08\u6587\u732e13\uff09\uff0c\u5df2\u7ecf\u5728\u4e00\u7cfb\u5217\u7814\u7a76\u548c\u4e34\u5e8a\u73af\u5883\u4e2d\u5c55\u5f00\u3002\u65b0\u4e00\u4ee3\u6d4b\u5e8f\u7684\u8fd9\u4e9b\u5e94\u7528\uff0c\u4e5f\u88ab\u79f0\u4e3a\u300c\u6587\u5e93\u5236\u5907\u300d\uff0c\u4e3b\u8981\u662f\u7531\u5c06DNA\u7684\u4e0a\u6e38\u6ce8\u5165\u6d4b\u5e8f\u4eea\u7684\u65b9\u6cd5\u7c7b\u578b\u6765\u5212\u5206\u7684\u3002\u5bf9\u7167\u4e0a\u6e38\u90e8\u95e8\u7684\u5404\u79cd\u51c6\u5907\u5206\u5de5\uff0c\u53ef\u4ee5\u5bf9\u4e0b\u6e38\u90e8\u95e8\u7684\u5b9e\u9645\u4f8b\u5b50\u8fdb\u884c\u5e7f\u6cdb\u7684\u6bd4\u8f83\u5206\u6790\uff0c\u5176\u4e2d\u4e4b\u4e00\u662fNIPT\u4e2d\u4f7f\u7528\u7684\u5206\u6790\u65b9\u6cd5\uff0c\u8fd9\u5c06\u5728\u7b2c3\u7ae0\u4e2d\u8be6\u7ec6\u8ba8\u8bba\u3002\u672c\u7ae0\u4e2d\uff0c\u9664\u4e86\u8bf4\u660e\u7528\u4e8e\u65b0\u4e00\u4ee3\u6d4b\u5e8f\u7684\u6bcf\u79cd\u4eea\u5668\u7684DNA\u6d4b\u5e8f\u65b9\u6cd5\u5916\uff0c\u9488\u5bf9NIPT\uff0c\u8fd8\u63a2\u8ba8\u4e86\u4ece\u4e0a\u6e38\u5230\u4e0b\u6e38\u90e8\u95e8\u5b58\u5728\u54ea\u4e9b\u6d4b\u5e8f\u9879\u76ee\u3002<\/p>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%B8%8A%E6%B8%B8%E9%83%A8%E9%97%A8%E7%9A%84%E6%B5%8B%E5%BA%8F%E5%99%A8\"><\/span>\u4e0a\u6e38\u90e8\u95e8\u7684\u6d4b\u5e8f\u5668<span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<h5 class=\"wp-block-heading\">DNA\u63d0\u53d6<\/h5>\n\n\n\n<p>\u65e0\u7ec6\u80deDNA\uff0c\u987e\u540d\u601d\u4e49\uff0c\u4e0d\u5b58\u5728\u4e8e\u8840\u7ec6\u80de\u4e2d\uff0c\u5fc5\u987b\u4ece\u8840\u6d46\u4e2d\u63d0\u53d6\u3002\u65e0\u7ec6\u80de\u7684DNA\u788e\u7247\u662f\u6b7b\u4ea1\u7ec6\u80de\u7684\u6b8b\u7559\u7269\uff08\u6587\u732e14\uff09\u3002\u5f53\u4e00\u4e2a\u7ec6\u80de\u53d1\u751f\u7a0b\u5e8f\u6027\u6b7b\u4ea1\uff08\u8fd9\u88ab\u79f0\u4e3a\u300c\u7ec6\u80de\u51cb\u4ea1\u300d\u3002\uff09\uff0c\u4f1a\u4e0e\u4e00\u7ec4\u9176\u7ed3\u5408\uff0c\u4ece\u800c\u6d88\u5316\u57fa\u56e0\u7ec4 DNA\uff08\u6587\u732e15\uff09\u3002\u8fd9\u4e9b\u9176\u53ea\u80fd\u63a5\u89e6\u5230\u6ca1\u6709\u88ab\u56f0\u5728\u6838\u7cd6\u4f53\u4e2d\u7684DNA\u3002\u6838\u7cd6\u4f53\u7531\u7ec4\u86cb\u767d8\u805a\u4f53\u7ec4\u6210\uff0c\u63a7\u5236\u7ec6\u80de\u5185\u7684\u57fa\u56e0\u8868\u8fbe\u548c\u57fa\u56e0\u7ec4\u62d3\u6251\u7ed3\u6784\uff08\u6587\u732e17\uff09\u3002\u6838\u7cd6\u4f53DNA\u7684\u4e0d\u53ef\u53ca\u6027\u610f\u5473\u7740\u5728\u6838\u7cd6\u4f53\u5185\u5faa\u73af\u7684\u5c11\u4e8e150\u4e2a\u6838\u82f7\u9178\u7684DNA\u7247\u6bb5\u5728\u7ec6\u80de\u51cb\u4ea1\u8fc7\u7a0b\u4e2d\u662f\u53ef\u884c\u7684\uff0c\u800c\u4ece\u5782\u6b7b\u7ec6\u80de\u4e2d\u9003\u8131\u7684DNA\u7247\u6bb5\u5f62\u6210\u65e0\u7ec6\u80de\u7684DNA\uff0c\u53ef\u4ee5\u88ab\u6d4b\u5e8f\u548c\u65b0\u4e00\u4ee3\u6d4b\u5e8f\u8bfb\u53d6\uff08\u8bfb\u53d6\u7247\u6bb5\u3002\u6d4b\u5e8f\u53cd\u5e94\u7684\u51fa\u529b\uff1a\u6885\u6cfd\uff09\u6307\u7684\u662f\u6d4b\u5e8f\u53cd\u5e94\u7684\u51fa\u529b\u7684\u610f\u601d\u3002<br>\u4e3a\u4e86\u4ece\u8840\u6d46\u4e2d\u63d0\u53d6\u65e0\u7ec6\u80de\u7684DNA\uff0c\u5fc5\u987b\u9996\u5148\u5c06\u8840\u6db2\u79bb\u5fc3\u5206\u79bb\u6210\u8840\u6d46\u3001\u8840\u6c89\u68d5\u9ec4\u5c42\uff08\u5305\u542b\u8840\u6db2\u4e2d\u7684\u767d\u7ec6\u80de\uff09\uff0c\u548c\u7ea2\u7ec6\u80de\u3002\u7ea6\u8840\u6db2\u603b\u91cf\u768455%\u3002\u5f53\u4ece\u79bb\u5fc3\u673a\u4e2d\u53d6\u51fa\u8840\u6d46\u65f6\uff0c\u5e94\u5c0f\u5fc3\u7ffc\u7ffc\u5730\u53bb\u9664\u6c89\u68d5\u9ec4\u5c42\u3002\u8fd9\u662f\u56e0\u4e3a\u5982\u679c\u767d\u7ec6\u80de\u4e2d\u7684\u6bcd\u4f53DNA\u6d53\u5ea6\u8fc7\u9ad8\uff0c\u4ece\u80ce\u76d8\u4e2d\u63d0\u53d6\u7684\u7a00\u6709\u65e0\u7ec6\u80deDNA\u5c06\u88ab\u7a00\u91ca\uff0c\u524a\u5f31\u6216\u5b8c\u5168\u6d88\u9664\u68c0\u6d4b\u80ce\u513f\u975e\u6574\u500d\u4f53\u7684\u654f\u611f\u6027\u3002<br>\u57fa\u4e8e\u5546\u4e1a\u7684\u3001\u6807\u51c6\u7684DNA\u63d0\u53d6\u6280\u672f\u53ef\u4ee5\u7528\u6765\u6e05\u6d17\u4ece\u8840\u6d46\u6837\u54c1\u4e2d\u63d0\u53d6\u7684\u8db3\u591f\u6570\u91cf\u7684\u65e0\u7ec6\u80deDNA\uff0c\u4ee5\u8fdb\u884c\u5206\u6790\uff08\u6587\u732e18\u300119\uff09\u3002\u901a\u5e38\u60c5\u51b5\u4e0b\uff0c\u8840\u6d46\u4e2d\u6d53\u7f29\u7684\u65e0\u7ec6\u80deDNA\u91cf\u4ec5\u4e3a\u6bcf\uff11ml\uff15~50ng\uff0c\u4f46\u8840\u6d46\u4e2d\u8fd9\u79cd\u4f4e\u91cf\u7684\u65e0\u7ec6\u80deDNA\u662f\u503c\u5f97\u6ce8\u610f\u7684\uff0c\u56e0\u4e3a\u5b83\u662f\u57fa\u4e8e\u65e0\u7ec6\u80deDNA\u7684\u4ea7\u524d\u8bca\u65ad\u6240\u9700\u8840\u91cf\u4e0b\u9650\u7684\u4f9d\u636e\u3002\u5982\u679c\u8840\u91cf\u592a\u5c11\uff0c\u63d0\u53d6\u7684DNA\u6570\u91cf\u4e0d\u8db3\uff0c\u7531\u4e8e\u63d0\u53d6\u7684\u6807\u672c\u4e2d\u57fa\u56e0\u7ec4\u7684\u62f7\u8d1d\u6570\u5f88\u4f4e\uff0c\u53ef\u80fd\u65e0\u6cd5\u68c0\u6d4b\u5230\u80ce\u513f\u57fa\u56e0\u5185\u5bb9\u7684\u8f7b\u5fae\u53d8\u5316\u3002\u4f8b\u5982\uff0c\u5982\u679c\u5728\u63d0\u53d6\u7684\u6807\u672c\u4e2d\u670910\u4e2a\u57fa\u56e0\u7ec4\u62f7\u8d1d\uff0c\u90a3\u4e48\u57fa\u56e021\u53f7\u7684\u6570\u91cf\u67092%\u7684\u53d8\u5316\u5c31\u4e0d\u53ef\u80fd\u88ab\u68c0\u6d4b\u51fa\u6765\u3002\u53cd\u4e4b\uff0c\u9ad8\u6548\u7684\u63d0\u53d6\u65b9\u6cd5\u5c06\u80fd\u68c0\u7d22\u5230\u8db3\u591f\u7684\u57fa\u56e0\u7ec4\u5f53\u91cf\uff0c\u4ee5\u68c0\u6d4b\u80ce\u513f\u67d3\u8272\u4f53\u7578\u53d8\uff0c\u5373\u4f7f\u80ce\u513f\u57fa\u56e0\u7ec4\u7247\u6bb5\u7684\u6570\u91cf\u8f83\u5c11\u3002\u901a\u8fc7DNA\u63d0\u53d6\u8981\u68c0\u7d22\u7684\u57fa\u56e0\u7ec4\u5f53\u91cf\u7684\u6570\u91cf\uff0c\u53d6\u51b3\u4e8e\u968f\u540e\u8981\u8fdb\u884c\u7684NIPT\u6d4b\u8bd5\u3002\u5728\u5168\u67d3\u8272\u4f53\u6d4b\u5e8f\uff08WGS\uff09\u7684\u60c5\u51b5\u4e0b\uff0c\u56e0\u4e3a\u8840\u6db2\u4e2d\u4efb\u4f55\u90e8\u5206\u6240\u9700\u7684\u65e0\u7ec6\u80deDNA\u6570\u91cf\u90fd\u5f88\u4f4e\uff0c\u4ece\u75c5\u4eba\u8eab\u4e0a\u63d0\u53d6\u7684\u8840\u6db2\u91cf\u5f88\u4f4e\u5c31\u8db3\u591f\u4e86\uff08\u6587\u732e13\uff09\u3002\u56e0\u6b64\uff0c\u6709\u53ef\u80fd\u5c1d\u8bd5\u4ece\u4e00\u4e2a\u8840\u6837\u4e2d\uff0c\u591a\u6b21\u63d0\u53d6DNA\u3002\u76f8\u6bd4\u4e4b\u4e0b\uff0c\u5355\u6838\u82f7\u9178\u591a\u6001\u578b\u6cd5\uff08SNP\uff09\u7b49\u9ad8\u77e5\u540d\u5ea6\u7684\u6280\u672f\u9700\u8981\u6bcf\u4e2a\u7279\u5b9a\u533a\u57df\u6709\u6570\u767e\u4e2a\u57fa\u56e0\u7ec4\u5f53\u91cf\uff0c\u636e\u6b64\u53ef\u4ee5\u9ad8\u7cbe\u5ea6\u5730\u6d4b\u91cf\u7b49\u4f4d\u57fa\u56e0\u7684\u5e73\u8861\uff08WGS\u548cSNP\u5c06\u5728\u7b2c3\u7ae0\u8be6\u7ec6\u8ba8\u8bba\uff09\uff08\u6587\u732e20\uff09\u3002\u7531\u4e8e\u8fd9\u4e2a\u539f\u56e0\uff0cNPIT\u68c0\u6d4bSNPs\u6240\u9700\u7684\u8840\u91cf\u901a\u5e38\u6bd4WGS\u8981\u9ad8\u3002<br>\u7531\u4e8e\u65e0\u7ec6\u80deDNA\u7684\u6d53\u5ea6\u5f88\u4f4e\uff0c\u8981\u6d4b\u91cf\u662f\u5426\u6709\u8db3\u591f\u7684\u65e0\u7ec6\u80deDNA\u88ab\u63d0\u53d6\u6765\u8fdb\u884cNIPT\u5e76\u4e0d\u662f\u4e00\u4ef6\u5c0f\u4e8b\u3002\u901a\u5e38\u5728\u8fdb\u884c\u65b0\u4e00\u4ee3\u6d4b\u5e8f\u4e4b\u524d\uff0c\u901a\u5e38\u53ef\u4e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