{"id":45589,"date":"2019-07-29T10:42:45","date_gmt":"2019-07-29T01:42:45","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-treatise3\/"},"modified":"2024-11-27T15:59:58","modified_gmt":"2024-11-27T06:59:58","slug":"nipt-treatise3","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-treatise3\/?lang=zh-hans","title":{"rendered":"NIPT\u8bba\u6587\uff08\u7b2c3\u7ae0\uff09"},"content":{"rendered":"\r\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_85 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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id=\"Riefe%E3%83%BBPerhaeChristiaens%E3%80%81Hans-Georg%E3%83%BBKlein%E7%BC%96%E8%91%97%E7%9A%84%E3%80%8E%E9%9D%9E%E4%BE%B5%E5%85%A5%E6%80%A7%E4%BA%A7%E5%89%8D%E5%9F%BA%E5%9B%A0%E5%AD%A6%E6%A3%80%E6%B5%8B%EF%BC%88NIPT%EF%BC%89%EF%BC%88%E5%89%AF%E6%A0%87%E9%A2%98%EF%BC%9A%E5%9F%BA%E5%9B%A0%E7%BB%84%E5%AD%A6%E5%9C%A8%E4%BA%A7%E5%89%8D%E6%A3%80%E6%B5%8B%E5%92%8C%E8%AF%8A%E6%96%AD%E4%B8%AD%E7%9A%84%E5%BA%94%E7%94%A8%EF%BC%89%E3%80%8F%EF%BC%88Academix%E3%83%BBPress%E3%80%812018%E5%B9%B4%EF%BC%89%E7%9A%84%E7%AC%AC3%E7%AB%A0%E8%AE%BA%E6%96%87%E7%9A%84%E7%BF%BB%E8%AF%91%EF%BC%88Hiro%E8%AF%8A%E6%89%80NIPT%E4%B8%B4%E6%97%B6%E7%BF%BB%E8%AF%91%EF%BC%89\"><\/span>Riefe\u30fbPerhae=Christiaens\u3001Hans-Georg\u30fbKlein\u7f16\u8457\u7684\u300e\u975e\u4fb5\u5165\u6027\u4ea7\u524d\u57fa\u56e0\u5b66\u68c0\u6d4b\uff08NIPT\uff09\uff08\u526f\u6807\u9898\uff1a\u57fa\u56e0\u7ec4\u5b66\u5728\u4ea7\u524d\u68c0\u6d4b\u548c\u8bca\u65ad\u4e2d\u7684\u5e94\u7528\uff09\u300f\uff08Academix\u30fbPress\u30012018\u5e74\uff09\u7684\u7b2c3\u7ae0\u8bba\u6587\u7684\u7ffb\u8bd1\uff08Hiro\u8bca\u6240NIPT\u4e34\u65f6\u7ffb\u8bd1\uff09<span 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\/>\r\n\u5c3d\u7ba1\u65b0\u4e00\u4ee3\u6d4b\u5e8fNGS\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\u672f\u5171\u4eab\u7684\u65b9\u6cd5\u3002\u6b63\u5982\u540e\u9762\u5c06\u8be6\u7ec6\u8ba8\u8bba\u7684\u90a3\u6837\uff0c\u65b0\u4e00\u4ee3\u6d4b\u5e8f\u4e5f\u4f1a\u5f71\u54cd\u5230\u505c\u6b62\u6269\u5f20\u548c\u8367\u5149\u78b1\u57fa\uff0c\u90a3\u65f6DNA\u805a\u5408\u9176\u5728\u5355\u4e00\u57fa\u76d8\u53d1\u751f\u9636\u6bb5\u7684DNA\u5206\u5b50\u5c06\u4e00\u65f6\u95f4\u4f9d\u8d56\u4e8e\u9644\u7740\u6280\u80fd\u4e0a\u3002\u4e8b\u5b9e\u4e0a\uff0c\u5728\u8bb8\u591a\u65b9\u9762\uff0c\u65b0\u4e00\u4ee3\u6d4b\u5e8f\u5b9e\u9a8c\u7c7b\u4f3c\u4e8e\u5728\u6570\u767e\u4e07\u6216\u6570\u5341\u4ebf\u7684\u6c34\u5e73\u4e0a\u5e73\u884c\u8fdb\u884c\u6851\u683c\u5f0f\u53cd\u5e94\uff08\u8fd9\u5c31\u662f\u4e3a\u4ec0\u4e48\u65b0\u4e00\u4ee3\u6d4b\u5e8f\u6709\u53e6\u4e00\u4e2a\u540d\u5b57\u300c\u5de8\u578b\u540c\u65f6\u5e76\u884c\u9635\u5217\u300d\uff09\u3002<\/p>\r\n\r\n\r\n<h3 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><\/h3>\r\n\r\n\r\n<p>\u3000\u65b0\u4e00\u4ee3\u6d4b\u5e8f\uff08NGS\uff09\u7684\u88c5\u7f6e\uff0c\u8d1f\u8d23\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\u5de5\u4f5c\u9879\u76ee\u3002<\/p>\r\n\r\n\r\n<h3 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><\/h3>\r\n\r\n\r\n<p>DNA\u7684\u63d0\u53d6<\/p>\r\n\r\n\r\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 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amplification\uff09\uff0c\u662f\u805a\u5408\u9176\u94fe\u5f0f\u53cd\u5e94\uff08PCR\uff09\u3002\u53d1\u751f\u5728\u6d41\u52a8\u6c60\u7684\u8868\u9762\uff0cDNA\u88ab\u6742\u4ea4\u5230\u6d41\u52a8\u6c60\u7684\u8868\u9762\u5e76\u8fdb\u4e00\u6b65\u5b9a\u4f4d\u548c\u589e\u5f3a\u3002\u8fd9\u6837\u7684DNA\u589e\u5f3a\u662f\u5fc5\u8981\u7684\uff0c\u56e0\u4e3a\u5728\u6d4b\u5e8f\u8fc7\u7a0b\u4e2d\u4e0e\u5355\u5206\u5b50\u7ed3\u5408\u7684\u5355\u4e2a\u8367\u5149\u78b1\u57fa\u7684\u53d1\u5c04\u592a\u5f31\uff0c\u65e0\u8bba\u5982\u4f55\u589e\u5f3a\u90fd\u65e0\u6cd5\u88abNGS\u4eea\u5668\u7684\u6444\u50cf\u5934\u6355\u6349\u5230\u3002\u4e3a\u4e86\u5c06\u8367\u5149\u6807\u7b7e\u63d0\u9ad8\u5230\u53ef\u68c0\u6d4b\u7684\u6c34\u5e73\uff0c\u5b83\u4eec\u88ab\u590d\u5236\u4e86\u51e0\u5341\u4e07\u6b21\uff0c\u4e0e\u539f\u59cb\u6587\u5e93\u7247\u6bb5\u975e\u5e38\u76f8\u4f3c\uff0c\u4ee5\u4ea7\u751f\u300c\u96c6\u7fa4\u300d\u5373\u5177\u6709\u9ad8\u5bc6\u5ea6DNA\u7247\u6bb5\u7684\u514b\u9686\u3002\u4e3a\u4e86\u52a0\u5f3a\u6865\u63a5\uff08\u56fe4\u4e2d\u793a\u610f\u6027\u5730\u8bf4\u660e\uff09\uff09\uff0c\u4f7f\u7528\u4e86\u6dfb\u52a0\u5230\u6d41\u52a8\u6c60\u8868\u9762\u7684\u5be1\u6838\u82f7\u9178\u3002\u8fd9\u4e9b\u5be1\u6838\u82f7\u9178\u4f5c\u4e3a\u5f15\u7269\u7528\u4e8e\u6bcf\u4e2a\u65f6\u95f4\u6865\u7684\u589e\u5f3a\u3002\u5f53\u5be1\u5934\u8fde\u63a5\u5230\u73bb\u7483\u4e00\u4fa7\u65f6\uff0c\u5355\u94fe\u5206\u5b50\u901a\u8fc7\u6298\u53e0\u4e0e\u8fde\u63a5\u5230\u6d41\u52a8\u6c60\u7684\u5be1\u5934\u642d\u6865\uff0c\u4ece\u800c\u91cd\u590d\u6b64\u540e\u6bcf\u6b21\u7684\u4f38\u957f\u8fc7\u7a0b\u3002\u96c6\u675f\u5f62\u6210\u7684\u6700\u540e\u9636\u6bb5\u4f7f\u7528\u5206\u88c2\u9176\u548c\u5316\u5b66\u53d8\u6027\uff0c\u5c06\u6709\u5173\u7684\u5355\u94fe\u5206\u5b50\uff08\u4f8b\u5982\u9644\u7740\u5728\u6d41\u52a8\u6c60\u4e0a\u7684\u7c89\u7ea2\u8272\u5f15\u7269\uff09\u4ece\u6bcf\u4e2a\u5206\u5b50\u5185\u5df2\u52a0\u500d\u7684\u7247\u6bb5\u4e2d\u79fb\u9664\u3002\u8fd9\u5c31\u7559\u4e0b\u4e86\u4e00\u4e2a\u5e8f\u5217\u5b8c\u5168\u76f8\u540c\u7684\u5355\u94feDNA\u5206\u5b50\uff08\u53c2\u89c1\u56fe5\u7684\u9876\u90e8\u3002\u5355\u94feDNA\u5206\u5b50\u7684\u9876\u90e8\u6709\u4e00\u4e2a\u7c89\u7ea2\u8272\u7684\u5f15\u7269\uff0c\u800c\u6d41\u901a\u6c60\u4e0a\u6709\u4e00\u4e2a\u84dd\u8272\u7684\u5f15\u7269\uff09\u3002<\/p>\r\n\r\n\r\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%B5%8B%E5%BA%8F%E5%91%A8%E6%9C%9F\"><\/span>\u6d4b\u5e8f\u5468\u671f<span class=\"ez-toc-section-end\"><\/span><\/h3>\r\n\r\n\r\n<p>\u4e00\u65e6\u96c6\u7fa4\u5f97\u5230\u52a0\u5f3a\uff0c\u6d4b\u5e8f\u53cd\u5e94\u5c31\u5f00\u59cb\u4e86\uff08\u53c2\u8003\u6587\u732e22\uff09\u3002\u7b2c\u4e00\u6b65\u662f\u8ba9\u8981\u6d4b\u5e8f\u7684\u5f15\u7269\u8fdb\u5165\u6d41\u52a8\u69fd\u3002\u5728\u8fd9\u79cd\u60c5\u51b5\u4e0b\uff0c\u5f15\u7269\u91cd\u8ff0\u4e86\u5d4c\u5165\u5404\u4e2a\u7247\u6bb5\u7684\u63a5\u5934\u5206\u5b50\u4e2d\u7684\u5171\u540c\u5e8f\u5217\u3002\u7531\u4e8e\u5f15\u7269\u76843&#8217;\u7aef\u7d27\u90bb\u65e0\u7ec6\u80deDNA\uff08\u5939\u5728\u8f83\u5927DNA\u4e4b\u95f4\u7684\u4e00\u5c0f\u5757DNA\uff1a\u8bd1\u8005\u53c2\u8003\uff09\u7684\u63d2\u5165\u7269\uff0c\u901a\u8fc7\u6d4b\u5e8f\u7834\u8bd1\u5e8f\u5217\u4ece\u65e0\u7ec6\u80deDNA\u672b\u7aef\u7684\u7247\u6bb5\u5f00\u59cb\u3002\u7136\u540e\uff0cNGS\u4eea\u5668\u7528\u6df7\u5408\u53cd\u5e94\u7269\u6df9\u6ca1\u6d41\u52a8\u6c60\uff0c\u5305\u62ec\u8367\u5149\u6807\u8bb0\u7684\u3001\u4e0d\u53ef\u62c9\u4f38\u7684\u6838\u82f7\u9178\u548cDNA\u805a\u5408\u9176\uff08\u56f35\uff09\u3002\u805a\u5408\u9176\u4ece\u5f15\u7269\u672b\u7aef\u62c9\u957f\uff0c\u5438\u6536\u8d8a\u6765\u8d8a\u591a\u7684\u8367\u5149\u6807\u8bb0\u7684\u78b1\u57fa\uff0c\u8fd9\u4e9b\u78b1\u57fa\u4e0e\u65e0\u7ec6\u80deDNA\u5206\u5b50\u7684\u6a21\u677f\u4e92\u8865\u3002\u7531\u4e8e\u8fd9\u4e9b\u78b1\u57fa\u662f\u4e0d\u53ef\u5ef6\u4f38\u7684\uff0c\u5ef6\u4f38\u53ea\u53d1\u751f\u5728\u4e00\u4e2a\u78b1\u57fa\u4e0a\uff0c\u5e76\u6301\u7eed\u5230\u6b7b\u4ea1\u3002\u5728\u8fd9\u4e00\u70b9\u4e0a\uff0c\u5c1a\u672a\u88ab\u5438\u6536\u7684\u6838\u82f7\u9178\u548c\u5ef6\u4f38\u53cd\u5e94\u7684\u6df7\u5408\u7269\u88ab\u51b2\u51fa\u6d41\u52a8\u6c60\u5ba4\uff0c\u5f00\u59cb\u6210\u50cf\u3002\u6d41\u52a8\u6c60\u7684\u6574\u4e2a\u533a\u57df\u7528\u6444\u50cf\u673a\u626b\u63cf\uff08\u5728\u73b0\u4ee3Illumina\u8bbe\u5907\u4e2d\uff0c\u6d41\u52a8\u6c60\u5728\u9876\u90e8\u548c\u5e95\u90e8\u90fd\u88ab\u626b\u63cf\uff09\uff0c\u786e\u5b9a\u96c6\u7fa4\u5e76\u5b58\u50a8\u89c6\u9891\u6570\u636e\u3002\u96c6\u7fa4\u7684\u989c\u8272\u5e94\u8be5\u662f\u53cd\u6620\u51fa\u521a\u521a\u88ab\u5360\u7528\u7684\u57fa\u5730\u7684\u989c\u8272\u3002\u8fd9\u4e9b\u96c6\u7fa4\u53ea\u5728\u6865\u6881\u589e\u5f3a\u8fc7\u7a0b\u4e2d\u53ef\u89c1\u3002\u5728\u89c6\u9891\u6210\u50cf\u4e4b\u540e\uff0c\u4e00\u79cd\u6df7\u5408\u7684\u5316\u5b66\u7269\u8d28\u8fdb\u5165\u6d41\u52a8\u6c60\uff0c\u5b83\u4ece\u65b0\u52a0\u5165\u7684\u57fa\u8d28\u4e2d\u53bb\u9664\u8367\u5149\u90e8\u5206\uff0c\u5e76\u6062\u590d\u57fa\u8d28\u7684\u4f38\u957f\u80fd\u529b\u3002\u8fd9\u79cd\u6062\u590d\u53cd\u5e94\u662f\u81f3\u5173\u91cd\u8981\u7684\uff0c\u56e0\u4e3a\u5b83\u5c06\u63a8\u52a8\u5355\u4e2a\u5206\u5b50\u672a\u6765\u4e00\u8f6e\u7684\u4f38\u957f\u548c\u6210\u50cf\u3002\u4e8b\u5b9e\u4e0a\uff0c\u5b83\u88ab\u91cd\u590d\u4e86\u6570\u767e\u6b21\uff08\u57fa\u4e8e\u7528\u6237\u7684\u504f\u597d\uff09\u3002\u4ece\u4f38\u957f\u548c\u6210\u50cf\u5230\u6062\u590d\u7684\u5468\u671f\uff0c\u4ee5\u53ca\u989d\u5916\u7684\u5468\u671f\u6765\u7834\u8bd1\u6d41\u52a8\u6c60\u8868\u9762\u7684\u96c6\u7fa4\u5e8f\u5217\u3002\u8fed\u4ee3\u7684\u6b21\u6570\u51b3\u5b9a\u4e86\u6620\u5c04\u4e2d\u4f7f\u7528\u7684\u8bfb\u6570\u7684\u957f\u5ea6\u3002<\/p>\r\n\r\n\r\n<p>\u5bf9\u4e8eNIPT\u7684\u5e94\u7528\uff0c\u6d4b\u5e8f\u5468\u671f\u7684\u6570\u91cf\u901a\u5e38\u8f83\u5c11\uff0825\uff5e36\uff09\u3002\u4e0e\u5206\u6790\u6d4b\u5e8f\u5206\u5b50\u4ee5\u8bc6\u522b\u65b0\u57fa\u56e0\u7ec4\u53d8\u91cf\uff08\u4ece\u800c\u5728\u957f\u8bfb\u957f\u4e2d\u53d1\u73b0\u4ef7\u503c\uff09\u7684\u5176\u4ed6\u57fa\u56e0\u7ec4\u6d4b\u8bd5\u4e0d\u540c\uff0c\u5f53\u524d\u7684\u65e0\u7ec6\u80deDNANIPT\u67d3\u8272\u4f53\u975e\u6574\u500d\u6027\u6d4b\u8bd5\u5e76\u4e0d\u65e8\u5728\u53d1\u73b0\u5355\u78b1\u57fa\u6c34\u5e73\u7684\u65b0\u7269\u79cd\u3002\u5728\u5177\u6709SNP\u7684NIPT\u7684\u60c5\u51b5\u4e0b\uff0c\u53ef\u4ee5\u5236\u4f5c\u591a\u91cd\u5f15\u7269\u4ee5\u8fd1\u4f3c\u4e0eSNP\u540c\u6b65\u7684\u5f15\u7269\u3002\u6b64\u5916\uff0c\u5728WGS\u7684NIPT\u7684\u60c5\u51b5\u4e0b\uff0c\u522b\u65e0\u9009\u62e9\uff0c\u53ea\u80fd\u7ee7\u7eed\u6d4b\u5e8f\uff0c\u76f4\u5230\u53ef\u4ee5\u5c06\u8bfb\u6570\u6620\u5c04\u5230\u552f\u4e00\u7684\u5bf9\u5e94\u5173\u7cfb\u3002\u5bf9\u4e8e\u4e0e <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> \u4e00\u81f4\u7684\u4e24\u4e2a\u76ee\u7684\u800c\u8a00\uff0c\u8fd9\u4e24\u79cd\u77ed\u8bfb\u957f\u90fd\u5177\u6709\u5438\u5f15\u529b\u3002(1)\u7531\u4e8eNGS\u6240\u9700\u7684\u65f6\u95f4\u4e0e\u6d4b\u5e8f\u6240\u9700\u7684\u65f6\u95f4\u6210\u6b63\u6bd4\uff0c\u56e0\u6b64\u8f83\u77ed\u7684\u8bfb\u53d6\u957f\u5ea6\u53ef\u4ee5\u52a0\u5feb\u68c0\u6d4b\u62a5\u544a\u7684\u901f\u5ea6\u3002(2)\u77ed\u5f15\u7ebf\u6bd4\u957f\u5f15\u7ebf\u4fbf\u5b9c\uff0c\u5728\u68c0\u67e5\u6210\u672c\u65b9\u9762\u66f4\u53ef\u53d6\u3002<\/p>\r\n\r\n\r\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%85%8D%E5%AF%B9%E6%9C%AB%E7%AB%AF%E6%B5%8B%E5%BA%8F\"><\/span>\u914d\u5bf9\u672b\u7aef\u6d4b\u5e8f<span class=\"ez-toc-section-end\"><\/span><\/h3>\r\n\r\n\r\n<p>\u5728NGS\u4eea\u5668\u7684\u60c5\u51b5\u4e0b\uff0c\u53ea\u80fd\u5728DNA\u7247\u6bb5\u7684\u672b\u7aef\u786e\u5b9a\u5e8f\u5217\uff0c\u56e0\u4e3a\u63a7\u5236\u6d4b\u5e8f\u53cd\u5e94\u7684\u5be1\u6838\u82f7\u9178\u5177\u6709\u56fa\u5b9a\u5728DNA\u7247\u6bb5\u76f4\u63a5\u4e24\u4fa7\u7684\u63a5\u5934\uff08\u53c2\u8003\u6587\u732e22\uff09\u3002\u6b64\u5916\uff0c\u7531\u4e8e\u6838\u82f7\u9178\u5ef6\u4f38\u4ec5\u4ece5&#8217;\u52303&#8217;\u672b\u7aef\u8fdb\u884c\uff0c\u56e0\u6b64\u5728\u7c07\u5bcc\u96c6\u8fc7\u7a0b\u4e2d\u4ea7\u751f\u7684\u6d41\u52a8\u69fd\u951a\u5b9a\u5355\u6838\u82f7\u9178DNA\u7247\u6bb5\u53ea\u80fd\u4ece\u4e00\u7aef\u8fdb\u884c\u6d4b\u5e8f\u3002\u7136\u800c\uff0c\u5728\u79f0\u4e3a\u300c\u914d\u5bf9\u672b\u7aef\u300d\u7684\u6d4b\u5e8f\u8fc7\u7a0b\u4e2d\uff0cDNA\u7247\u6bb5\u53ef\u4ee5\u4ece\u4e24\u7aef\u5f00\u59cb\u6d4b\u5e8f\u3002\u6210\u5bf9\u7aef\u6d4b\u5e8f\uff0c\u987e\u540d\u601d\u4e49\uff0c\u6d89\u53ca\u4e24\u8f6e\u5355\u4fa7\u6d4b\u5e8f\uff0c\u5982\u524d\u6240\u8ff0\uff0c\u6bcf\u8f6e\u6d4b\u5e8f\u7528\u4e0d\u540c\u7684\u5f15\u7269\u8fdb\u884c\uff0c\u8fd9\u4e9b\u5f15\u7269\u901a\u8fc7\u94fe\u5f0f\u8f6c\u6362\u673a\u5236\u76f8\u4e92\u533a\u522b\u3002\u5728\u8fd9\u4e2a\u5207\u6362\u65b9\u6848\u7684\u7b2c\u4e00\u9636\u6bb5\uff08\u56fe6\uff09\uff0c\u6d41\u52a8\u6c60\u4e2d\u7684\u53cc\u94feDNA\u88ab\u53d8\u6027\u3002\u5728\u8fd9\u4e2a\u8fc7\u7a0b\u4e2d\uff0c\u539f\u672c\u5728\u96c6\u7fa4\u4e2d\u7684\u5355\u94fe\u5206\u5b50\u4e0e\u5c06\u8981\u751f\u6210\u7684\u5355\u94fe\u5206\u5b50\u88ab\u533a\u5206\u5f00\u6765\u3002\u7136\u540e\uff0c\u540e\u4e00\u6761\u5355\u94fe\u88ab\u521b\u5efa\u4e3a\u8fdc\u79bb\u7b2c\u4e00\u8f6e\u6d4b\u5e8f\u7684\u5f15\u7269\u800c\u5408\u6210\u7684\u5f15\u7269\u3002\u6ca1\u6709\u951a\u5b9a\u5728\u6d41\u52a8\u6c60\u4e2d\u7684\u3001\u5c06\u6765\u4f1a\u4ea7\u751f\u7684\u94fe\u5b50\u5728\u6d41\u52a8\u6c60\u4e2d\u88ab\u6d17\u6389\uff0c\u6709\u6548\u5730\u4f7f\u6d41\u52a8\u6c60\u5728\u96c6\u7fa4\u589e\u5f3a\u540e\u56de\u5230\u5176\u539f\u6765\u7684\u4f4d\u7f6e\u3002\u7136\u800c\uff0c\u4e3a\u4e86\u4ece\u7247\u6bb5\u7684\u53e6\u4e00\u4fa7\u6355\u83b7\u5e8f\u5217\uff0c\u539f\u59cb\u7c07\u4e2d\u7684\u53cd\u5411\u4e92\u8865\u94fe\u9700\u8981\u51dd\u805a\uff0c\u4ee5\u4fbf\u5ef6\u4f38\u53cd\u5e94\u80fd\u591f\u4ece5&#8217;\u7aef\u54113&#8217;\u7aef\u53d1\u5c55\u3002\u5728\u7b2c\u4e00\u8f6e\u6865\u5f0f\u52a0\u56fa\u7684\u8fdb\u5c55\u4e2d\uff0c\u7fa4\u7ec4\u7684\u5355\u94fe\u7247\u6bb5\u662f\u53cd\u5411\u4e92\u8865\u7684\uff0c\u4f46\u6865\u5f0f\u52a0\u56fa\u521b\u9020\u4e86\u4e00\u4e2a\u7fa4\u7ec4\uff0c\u5e76\u4e14\u6709\u4e24\u6761\u94fe\u5b50\u5b58\u5728\u3002\u7136\u540e\u5728\u6d41\u52a8\u6c60\u4e2d\u5f15\u5165\u4e00\u79cd\u5206\u5b50\uff0c\u5207\u5272\u56fa\u5b9a\u7684\u5be1\u6838\u82f7\u9178\uff0c\u4ece\u800c\u53bb\u9664\u539f\u6765\u7684\u94fe\u5b50\u3002\u8fd9\u79cd\u9884\u5904\u7406\u4e3a\u4ece\u76f8\u53cd\u65b9\u5411\u5bf9\u5f15\u7269\u8fdb\u884c\u6d4b\u5e8f\u6765\u62c9\u957f\u96c6\u7fa4\u505a\u4e86\u51c6\u5907\uff0c\u4ece\u800c\u53ef\u4ee5\u83b7\u5f97\u4eceDNA\u7247\u6bb5\u7684\u76f8\u53cd\u65b9\u5411\u6d4b\u5e8f\u7684\u4fe1\u606f\u3002<\/p>\r\n\r\n\r\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%9B%BE%E5%83%8F%E5%88%86%E6%9E%90%E5%92%8C%E6%B5%8B%E5%BA%8F%E6%95%B0%E9%87%8F%E5%88%86%E6%9E%90\"><\/span>\u56fe\u50cf\u5206\u6790\u548c\u6d4b\u5e8f\u6570\u91cf\u5206\u6790<span class=\"ez-toc-section-end\"><\/span><\/h3>\r\n\r\n\r\n<p>\u4e0a\u6587\u5df2\u7ecf\u63cf\u8ff0\u4e86NGS\u8bbe\u5907\u5c06\u5206\u5b50\u4fe1\u606f\u4f5c\u4e3aDNA\u5e8f\u5217\u7f16\u7801\u8f6c\u6362\u6210\u4e00\u5806\u56fe\u50cf\u7684\u7a0b\u5e8f\uff0c\u4f46\u90a3\u91cc\u9488\u5bf9\u7684\u8f93\u51fa\u662f\u5e8f\u5217\u4fe1\u606f\u7684\u6587\u672c\u6587\u4ef6\uff0c\u800c\u4e0d\u662f\u9ad8\u7075\u654f\u5ea6\u7684\u56fe\u50cf\u3002\u8fd9\u4e2a\u6700\u540e\u7684\u8f6c\u6362\u662f\u7531\u5d4c\u5165\u6d4b\u5e8f\u8bbe\u5907\u7684\u8f6f\u4ef6\u5b8c\u6210\u7684\uff0c\u79f0\u4e3a\u300c\u78b1\u57fa\u8c03\u7528\u300d\uff08\u56fe7\u3001\u53c2\u8003\u6587\u732e22\uff09\u3002\u8fd9\u4e2a\u8f6f\u4ef6\u7684\u76ee\u7684\u662f\u5728\u5355\u4e2a\u56fe\u50cf\u4e2d\u9010\u4e00\u5b9a\u4f4d\u96c6\u7fa4\uff0c\u8ddf\u8e2a\u56fe\u50cf\u5806\u4e2d\u96c6\u7fa4\u7684\u4f4d\u7f6e\u548c\u989c\u8272\u3002 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