{"id":9226,"date":"2019-09-05T15:08:27","date_gmt":"2019-09-05T07:08:27","guid":{"rendered":"http:\/\/mp.weixin.qq.com\/s?__biz=MzI3NjUzOTM1Mg==&#038;mid=100010959&#038;idx=1&#038;sn=5565ede8f38d50c993f292b11da5c195&#038;chksm=6b7159785c06d06e8e5dc274c0dec0ba9afd27c069b5a0f3bd0e2a749ca9e63cd31aebe2bbc9#rd"},"modified":"2026-04-08T10:13:03","modified_gmt":"2026-04-08T02:13:03","slug":"53101101","status":"publish","type":"post","link":"https:\/\/www.geneclub.net.cn\/index.php\/2019\/09\/05\/53101101\/","title":{"rendered":"ACMG\u4f1a\u520a\u53d1\u5e03NIPT PLUS\u80ce\u513f\u6d53\u5ea6\u9884\u6d4b\u6838\u5fc3\u7b97\u6cd5"},"content":{"rendered":"<p><!-- wechat_content_hash: 5ee59bde64dc1527 --><\/p>\n<div>\u5173\u952e\u8bcd\/NIPT PLUS 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PLUS\u7684\u8bde\u751f\u3002<\/div>\n<div>\u00a0<\/div>\n<div>\u4e00\u3001\u4f17\u91cc\u5bfb\u4ed6\u5343\u767e\u5ea6\uff0c\u84e6\u7136\u56de\u9996\u5728\u706f\u706b\u9611\u73ca\u5904<\/div>\n<div>NIPT\u4e0a\u5e02\u4ee5\u524d\uff0c\u57fa\u56e0\u68c0\u6d4b\u5c5e\u4e8e\u201c\u9ad8\u51b7\u201d\u6280\u672f\uff0c\u4e3b\u8981\u4e3a\u56fd\u5185\u5404\u5927\u9ad8\u6821\u548c\u79d1\u7814\u9662\u6240\u63d0\u4f9b\u57fa\u56e0\u6d4b\u5e8f\uff08\u4e5f\u5305\u62ec\u751f\u7269\u82af\u7247\u7b49\uff09\u53ca\u751f\u7269\u4fe1\u606f\u5206\u6790\u670d\u52a1\u3002\u968f\u7740NGS\u6210\u672c\u7684\u5feb\u901f\u4e0b\u964d\u3001\u5f52\u56fd\u9ad8\u7aef\u4eba\u624d\u5f15\u8fdb\u4ee5\u53ca\u8d44\u672c\u7684\u50ac\u5316\uff0c\u4f7f\u5f97\u57fa\u56e0\u6d4b\u5e8f\u8d8a\u6765\u8d8a\u89e6\u624b\u53ef\u53ca\uff0c\u4ee5\u57fa\u56e0\u6d4b\u5e8f\u4e3a\u4eae\u70b9\u7684\u7814\u7a76\u6210\u679c\u548c\u9ad8\u8d28\u91cf\u6587\u7ae0\u5927\u91cf\u6d8c\u73b0\u3002<\/div>\n<div>\u4f46\u4f5c\u4e3a\u4e00\u4e2a\u4ea7\u4e1a\u6765\u8bb2\uff0c\u5f53\u65f6\u7684\u79d1\u6280\u670d\u52a1\u6709\u5b83\u7684\u53d1\u5c55\u74f6\u9888\uff0c\u5e02\u573a\u5bb9\u91cf\u548c\u670d\u52a1\u5bf9\u8c61\u76f8\u5bf9\u56fa\u5b9a\u3002\u6b63\u56e0\u5982\u6b64\uff0c\u57fa\u56e0\u79d1\u7814\u548c\u4ea7\u4e1a\u5de5\u4f5c\u8005\u5f00\u59cb\u4e0d\u81ea\u89c9\u5730\u5bfb\u627e\u66f4\u5927\u7684\u5e02\u573a\uff0c\u5e76\u5f88\u5feb\u628a\u76ee\u5149\u653e\u5230\u4e86\u4e34\u5e8a\u9886\u57df\uff0c\u6bd5\u7adf\u57fa\u56e0\u884c\u4e1a\u53d1\u5c55\u8ffd\u8e2a\u6eaf\u6e90\uff0c\u5c31\u662f\u6e90\u81ea\u4e3a\u89e3\u51b3\u5927\u4f17\u533b\u7597\u548c\u5065\u5eb7\u95ee\u9898\u3001\u4e0e\u66fc\u54c8\u987f\u539f\u5b50\u5f39\u8ba1\u5212\u548c\u963f\u6ce2\u7f57\u767b\u6708\u8ba1\u5212\u5e76\u79f0\u4e3a20\u4e16\u7eaa\u4eba\u7c7b\u81ea\u7136\u79d1\u5b66\u4e09\u5927\u5de5\u7a0b\u7684\u4eba\u7c7b\u57fa\u56e0\u7ec4\u8ba1\u5212\u3002<\/div>\n<div>\u00a0<\/div>\n<div>\u00a0\u4e8c\u3001\u4e0d\u65e9\u4e00\u6b65\u4e0d\u665a\u4e00\u6b65\uff0cNIPT\u5e94\u8fd0\u800c\u751f\u00a0\u00a0<\/div>\n<div>\u636e\u521d\u6b65\u7edf\u8ba1\uff0c\u6211\u56fd\u51fa\u751f\u7f3a\u9677\u53d1\u751f\u73875.6%\uff0c\u6bcf\u5e74\u7531\u4e8e\u51fa\u751f\u7f3a\u9677\u9020\u6210\u7684\u793e\u4f1a\u7ecf\u6d4e\u8d1f\u62c5\u8d85\u767e\u4ebf\u5143\u3002\u4e34\u5e8a\u4e0a\u4e5f\u4e00\u76f4\u5728\u5bfb\u627e\u4e00\u79cd\u65e2\u5b89\u5168\u53c8\u51c6\u786e\u7684\u65b9\u6cd5\uff0c\u5e2e\u52a9\u5b55\u5987\u5728\u4ea7\u524d\u5224\u65ad\u80ce\u513f\u662f\u5426\u643a\u5e26\u67d3\u8272\u4f53\u75be\u75c5\u3002\u81ea1997\u5e74\u5f00\u59cb\uff0c\u9999\u6e2f\u4e2d\u6587\u5927\u5b66\u7684\u5362\u715c\u660e\u6559\u6388\uff08Dennis 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class=\"wp-block-image aligncenter\">\n<figure class=\"\"><img decoding=\"async\" src=\"https:\/\/www.geneclub.net.cn\/wp-content\/uploads\/images\/RmFicvQBAkgB7cExIWuNJ6IRWXgAdAhCz2wuLBhqg99dbMw2zJkJqGoTZV9oxzQwicUWEZmHRnicVxbJcdGnM7MYQ.png\" alt=\"RmFicvQBAkgB7cExIWuNJ6IRWXgAdAhCz2wuLBhqg99dbMw2zJkJqGoTZV9oxzQwicUWEZmHRnicVxbJcdGnM7MYQ\"\/><\/figure><\/div>\n\n<div style=\"text-align: center;\">\u56fe2\uff1aNIPT\u6570\u636e\u5206\u6790\uff08\u6765\u6e90\/\u4f18\u8fc5\u533b\u5b66\uff09<\/div>\n<div>\u57fa\u4e8e\u5362\u6559\u6388\u7b49\u524d\u8f88\u7684\u7a81\u7834\u6027\u53d1\u73b0\u3001\u80ce\u513f\u6e38\u79bbDNA\u7279\u6027\u3001\u4e34\u5e8a\u75db\u70b9\u4ee5\u53ca\u5165\u95e8\u7ea7\u7684\u7edf\u8ba1\u7b97\u6cd5\u52a0\u6301\uff0c\u624d\u6709\u4e86NIPT\u7b2c\u4e00\u4e2a\u57fa\u56e0\u7ec4\u79d1\u6280\u4e34\u5e8a\u4ea7\u54c1\u7684\u5feb\u901f\u843d\u5730\u53ca\u666e\u53ca\u3002\u5f53\u7136\uff0c\u524d\u9762\u7684\u56e0\u7d20\u5f62\u6210\u4e86\u4e00\u4e2a\u884c\u4e1a\u98ce\u53e3\uff0c\u800c\u4ece\u4e1a\u8005\u7684\u52aa\u529b\u66f4\u662fNIPT\u4ea7\u4e1a\u5feb\u901f\u53d1\u5c55\u7684\u57fa\u77f3\u3002\u8fd1\u51e0\u5e74\u8089\u773c\u53ef\u89c1\u7684\u53d8\u5316\u662f\uff0c\u533b\u751f\u4ece\u6392\u65a5\u5230\u63a5\u53d7\u518d\u5230\u529b\u8350\uff0c\u5b55\u5987\u4ece\u8c28\u9075\u533b\u5631\u5230\u4e3b\u52a8\u54a8\u8be2\uff0c\u4e34\u5e8a\u4e0a\u57fa\u4e8e\u56fd\u4eba\u6570\u636e\u7684\u5927\u89c4\u6a21\u4e34\u5e8a\u8bd5\u9a8c\u4ece\u65e0\u5230\u6709\uff0c\u56fd\u5bb6\u653f\u7b56\u4ece\u4e0d\u7981\u4e0d\u8350\u5230\u53eb\u505c\u6574\u987f\u518d\u5230\u8bd5\u70b9\u8fd0\u8425\u76f4\u81f3\u5168\u9762\u653e\u5f00\uff0cNIPT\u4ea7\u54c1\u4ece\u64e6\u8fb9\u7403\u5f0f\u64cd\u4f5c\u53d1\u5c55\u5230\u90e8\u5206\u5730\u533a\u653f\u5e9c\u5b9a\u4ef7\u3001\u7eb3\u5165\u533b\u4fdd\u751a\u81f3\u90e8\u5206\u5730\u65b9\u653f\u5e9c\u91c7\u8d2d\u5b9e\u884c\u5168\u6c11\u514d\u8d39\u666e\u53ca\u3002<\/div>\n<div>\u00a0<\/div>\n<div>\u00a0\u4e09\u3001NIPT\u7684Z-SCORE\u65b9\u6cd5\u7684\u7070\u533a\u5c34\u5c2c\u00a0\u00a0<\/div>\n<div>NIPT\u591f\u51c6\u4e86\u5417\uff0c\u76f8\u6bd4\u5510\u7b5b\uff0c\u5df2\u7ecf\u6709\u4e86\u9769\u547d\u6027\u7684\u8fdb\u6b65\uff0c\u4f46\u8fd9\u8fd8\u4e0d\u591f\u3002<\/div>\n<div>NIPT\u7684\u6838\u5fc3\u6570\u636e\u5206\u6790\u7b97\u6cd5Z-score\uff0c\u5b58\u5728\u4e00\u4e2a\u660e\u663e\u7684BUG\u2014\u2014\u7070\u533a\u5c34\u5c2c\u3002Z\u68c0\u9a8c\u8ba9\u6bcf\u4e2a\u4eba\u5957\u8fdb\u4e00\u4e2a\u6a21\u578b\u4e2d\uff0c\u7b97\u6cd5\u548c\u4f9d\u636e\u7b97\u6cd5\u8bbe\u5b9a\u7684\u9608\u503c\u90fd\u662f\u6b7b\u6b7b\u7684\uff0c\u6bd4\u5982\u8fd9\u4e2a\u9608\u503c\u662f3\uff0c\u5982\u679c\u7ed3\u679c\u5c0f\u4e8e3\uff0c\u5c31\u662f\u4f4e\u5371\uff0c\u51fa\u4f4e\u98ce\u9669\u62a5\u544a\uff1b\u7ed3\u679c\u5927\u4e8e3\uff0c\u5c31\u662f\u9ad8\u5371\uff0c\u51fa\u9ad8\u98ce\u9669\u62a5\u544a\u5e76\u5efa\u8bae\u53bb\u505a\u7f8a\u7a7f\u3002\u4f46\u5982\u679c\u662f2.9\u6216\u80053.1\u5462\uff0c\u6570\u636e\u4e00\u65e6\u843d\u5728\u9608\u503c\u9644\u8fd1\u8fd9\u4e00\u7070\u533a\u65f6\uff0c\u5b9e\u9645\u5224\u8bfb\u4e00\u76f4\u8ba9\u4eba\u5f88\u5934\u75bc\uff1a2.9\u4e0e3.1\u771f\u7684\u662f\u6709\u7740\u5929\u58e4\u4e4b\u522b\u4e48\uff1f\u9608\u503c3\u662f\u4e00\u4e2a\u7edf\u8ba1\u7ed3\u679c\uff0c\u8fd9\u662f\u4e00\u4e2a\u6982\u7387\u95ee\u9898\uff0c\u4e5f\u662f\u5404\u5bb6\u7684\u7ecf\u9a8c\u503c\uff0c\u5e76\u4e0d\u8db3\u4ee5\u5224\u5b9a\u80ce\u513f\u67d3\u8272\u4f53\u60c5\u51b5\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\/RmFicvQBAkgB7cExIWuNJ6IRWXgAdAhCzgiaZfPB06pAFv4rbZUicB6KUS5KHVTVKxsR3jmlg15rbZMbPaajetkqg.png\" alt=\"RmFicvQBAkgB7cExIWuNJ6IRWXgAdAhCzgiaZfPB06pAFv4rbZUicB6KUS5KHVTVKxsR3jmlg15rbZMbPaajetkqg\"\/><\/figure><\/div>\n\n<div style=\"text-align: center;\">\u56fe3\uff1aNIPT\u7684\u201c\u7070\u533a\u5c34\u5c2c\u201d\uff08\u6765\u6e90\/\u4f18\u8fc5\u533b\u5b66\uff09<\/div>\n<div>\u5f53\u6570\u636e\u7ed3\u679c\u843d\u5165\u7070\u533a\uff0c\u5f53\u4e0b\u4e3a\u4e86\u89e3\u51b3\u8fd9\u4e2a\u95ee\u9898\uff0c\u5927\u591a\u6570\u68c0\u6d4b\u673a\u6784\u7684\u505a\u6cd5\u662f\uff0c\u91cd\u65b0\u5355\u72ec\u5206\u6790\u8fd9\u4e2a\u6837\u672c\uff0c\u5982\u679c\u8fd8\u662f\u843d\u5165\u7070\u533a\uff0c\u5c31\u53ea\u80fd\u91c7\u7528\u95f4\u63a5\u7684\u65b9\u6cd5\u2014\u2014\u62ff\u4e0d\u51c6\u4e86\u5c31\u62a5\u9633\u6027\u3002\u8fd9\u79cd\u89c4\u907f\u5047\u9634\u6027\u6837\u672c\u4ea7\u751f\u7684\u505a\u6cd5\u5bfc\u81f4\u4e86\u5047\u9633\u6027\u7387\u7684\u4e0a\u5347\u3002\u5fc5\u987b\u8bf4\u660e\u7684\u662f\uff0c\u8fd9\u5e76\u975e\u662f\u4e0d\u8d1f\u8d23\u4efb\u7684\u9c81\u83bd\u884c\u4e3a\uff0c\u56e0\u4e3a\u76f8\u8f83\u751f\u4e0b\u5510\u6c0f\u513f\u800c\u8a00\uff0c\u62a5\u9633\u6027\u800c\u5efa\u8bae\u5b55\u5987\u505a\u4ea7\u524d\u8bca\u65ad\u6328\u4e00\u9488\uff0c\u662f\u5f53\u65f6\u6280\u672f\u6761\u4ef6\u4e0b\u6700\u597d\u7684\u65b9\u5f0f\uff0c\u5f53\u7136\uff0c\u67d0\u79cd\u7a0b\u5ea6\u4e5f\u662f\u65e0\u5948\u4e4b\u4e3e\uff0c\u5e76\u4e14\u7f8a\u7a7f\u7684\u8d39\u7528\u4e5f\u7531\u68c0\u6d4b\u516c\u53f8\u652f\u4ed8\u3002\u9000\u4e00\u6b65\u8bf4\uff0c\u7b97\u4e0a\u7531\u4e8e\u7070\u533a\u95ee\u9898\u5bfc\u81f4\u7684\u5047\u9633\u6027\u60c5\u51b5\uff0cNIPT\u7684\u51c6\u786e\u7387\u8fd8\u662f\u8fdc\u8fdc\u9ad8\u4e8e\u666e\u901a\u5510\u7b5b\u7684\u3002<\/div>\n<div>\u5982\u4f55\u907f\u514d\u7070\u533a\u5c34\u5c2c\uff1f\u8fd9\u5df2\u7ecf\u4e0d\u662f\u65b9\u6cd5\u4f18\u5316\u7684\u95ee\u9898\uff0c\u800c\u5fc5\u987b\u4ece\u5e95\u5c42\u7b97\u6cd5\u4e0a\u5f15\u5165\u65b0\u7684\u601d\u8def\u3001\u8bbe\u8ba1\u65b0\u7684\u7edf\u8ba1\u6a21\u578b\u6765\u89e3\u51b3\u3002\u4f18\u8fc5\u7684\u7b97\u6cd5\u7814\u53d1\u56e2\u961f\uff0c\u627e\u5230\u4e86\u8d1d\u53f6\u65af\u56e0\u5b50\u3002<\/div>\n<div>\u00a0<\/div>\n<div>\u00a0\u56db\u3001\u8d1d\u53f6\u65af\u56e0\u5b50\uff0c\u544a\u522bNIPT\u5934\u75bc\u7684\u7070\u533a\u5c34\u5c2c\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\/RmFicvQBAkgB7cExIWuNJ6IRWXgAdAhCzRcKUkiaib2qiaZPY0pDIHgNJ94GgjDFcib7T4X66zZzDhcgcbSHk2JvaEQ.png\" alt=\"RmFicvQBAkgB7cExIWuNJ6IRWXgAdAhCzRcKUkiaib2qiaZPY0pDIHgNJ94GgjDFcib7T4X66zZzDhcgcbSHk2JvaEQ\"\/><\/figure><\/div>\n\n<div style=\"text-align: center;\">\u56fe4\uff1a\u8d1d\u53f6\u65af\u56e0\u5b50\uff08\u6765\u6e90\/\u4f18\u8fc5\u533b\u5b66\uff09<\/div>\n<div>2017\u5e74\u4f18\u8fc5\u533b\u5b66\u5173\u6c38\u6d9b\u6559\u6388\u5e26\u9886\u56e2\u961f\u53d1\u8868\u4e86\u91cd\u78c5\u6587\u7ae0\u300aInformative prior on fetal fraction increases power of noninvasive prenatal screen\u300b\uff0c\u8be6\u7ec6\u4ecb\u7ecd\u4e86\u4f18\u8fc5\u81ea\u4e3b\u7814\u53d1\u4e86\u57fa\u4e8e\u8d1d\u53f6\u65af\u7edf\u8ba1\u5b66\u539f\u7406\u7684NIPT\u7b97\u6cd5\u3002\u6b64\u6a21\u578b\u5f15\u5165\u80ce\u513f\u6d53\u5ea6\u548c\u75be\u75c5\u53d1\u75c5\u7387\u7b49\u5148\u9a8c\u77e5\u8bc6\uff0c\u901a\u8fc7\u8d1d\u53f6\u65af\u7406\u8bba\u8ba1\u7b97\u540e\u9a8c\u6982\u7387\uff0c\u4ece\u800c\u6784\u5efa\u51fa\u8d1d\u53f6\u65af\u56e0\u5b50\uff08\u8d1d\u53f6\u65af\u56e0\u5b50\u662f\u7528\u6765\u63cf\u8ff0\u4e00\u4e2a\u5206\u5e03\u4f18\u4e8e\u53e6\u4e00\u4e2a\u5206\u5e03\u7684\u76f8\u5bf9\u786e\u8bc1\u6027\uff09\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\/RmFicvQBAkgB7cExIWuNJ6IRWXgAdAhCzOC4mAqOukqmq6jgPemk0hNPuqVibfL6Pt4h06Nc6CriafgMbGj3Gn1KQ.jpeg\" alt=\"RmFicvQBAkgB7cExIWuNJ6IRWXgAdAhCzOC4mAqOukqmq6jgPemk0hNPuqVibfL6Pt4h06Nc6CriafgMbGj3Gn1KQ\"\/><\/figure><\/div>\n\n<div style=\"text-align: center;\">\u56fe5\uff1a\u8d1d\u53f6\u65af\u7406\u8bba\u5728PPV\/NPV\u6027\u80fd\u4e0a\u8fdc\u4f18\u4e8eZ\u68c0\u9a8c\uff08\u6765\u6e90\/\u4f18\u8fc5\u533b\u5b66\uff09<\/div>\n<div>\u5c06\u8d1d\u53f6\u65af\u56e0\u5b50\u5f15\u5165\u5230NIPT\u6a21\u578b\uff0c\u662f\u5320\u5fc3\u72ec\u8fd0\u7684\u7edd\u5999\u4e00\u7b14\uff0c\u518d\u52a0\u4e0a\u540c\u6b65\u5f15\u5165\u7684\u9690\u9a6c\u5c14\u79d1\u592b\u6a21\u578b\uff0c\u80fd\u591f\u6709\u6548\u5254\u9664\u6bcd\u4f53CNV\uff08copy number variance\uff09\u7684\u80cc\u666f\u5e72\u6270\uff0c\u4ee5\u53ca\u901a\u8fc7\u884c\u4e4b\u6709\u6548\u7684smooth GC\u77eb\u6b63\u65b9\u6cd5\u6765\u964d\u4f4e\u5e72\u6270\u8bef\u5dee\uff0c\u4f7f\u4f18\u8fc5\u7684NIPT\u68c0\u6d4b\u6548\u529b\u5927\u589e\uff0cPPV\/NPV\u6570\u636e\u5747\u5904\u4e8e\u884c\u4e1a\u9886\u5148\u6c34\u5e73\uff08\u56fe5\u663e\u793a\uff0c\u8d1d\u53f6\u65af\u7406\u8bba\u5728PPV\/NPV\u6027\u80fd\u4e0a\u8fdc\u4f18\u4e8eZ\u68c0\u9a8c\uff0c\u8be6\u7ec6\u62a5\u5bfc\u89c1\u4e4b\u524d\u6587\u7ae0\u89e3\u6790\uff09\u3002<\/div>\n<div>\u00a0<\/div>\n<div>\u00a0\u4e94\u3001NIPT PLUS\u7684\u91cd\u96be\u70b9\uff1a\u5973\u80ce\u80ce\u513f\u6d53\u5ea6\u5b9a\u91cf\u00a0\u00a0<\/div>\n<div>\u5728\u7b97\u6cd5\u4e0a\u53d6\u5f97\u521b\u65b0\u6027\u7a81\u7834\u4e4b\u540e\uff0c\u4f18\u8fc5\u7d27\u63a5\u7740\u5f00\u59cb\u4e86NIPT PLUS\u7684\u4ea7\u54c1\u7814\u53d1\uff0c\u65e8\u5728\u62d3\u5c55NIPT\u7684\u4e34\u5e8a\u9002\u7528\u8303\u56f4\uff0c\u4ee5\u8fdb\u4e00\u6b65\u6ee1\u8db3\u6b63\u5728\u5feb\u901f\u589e\u957f\u7684\u65e0\u521b\u51fa\u751f\u7f3a\u9677\u68c0\u6d4b\u670d\u52a1\u5347\u7ea7\u9700\u6c42\u3002NIPT\u4ea7\u54c1\u867d\u7136\u5df2\u7ecf\u5f97\u5230\u4e86\u4e34\u5e8a\u548c\u5ba2\u6237\u7684\u8ba4\u53ef\uff0c\u5948\u4f55\u68c0\u6d4b\u8303\u56f4\u6781\u5176\u6709\u9650\uff0c\u4ec5\u9488\u5bf9\u4e09\u5927\u67d3\u8272\u4f53\u975e\u6574\u500d\u6027\u5f02\u5e38\u8fdb\u884c\u68c0\u6d4b\u3002<\/div>\n<div>\u5176\u4ed6\u67d3\u8272\u4f53\u4ee5\u53ca\u5176\u4ed6\u53d8\u5f02\u7c7b\u578b\u5bfc\u81f4\u7684\u75be\u75c5\u540c\u6837\u6216\u8bb8\u66f4\u503c\u5f97\u6211\u4eec\u5173\u6ce8\u3002\u9488\u5bf9\u8fd9\u4e00\u9700\u6c42\uff0c\u4ece\u6280\u672f\u4e0a\u8bb2\uff0c\u4f18\u8fc5\u5df2\u7ecf\u5c06\u73b0\u6709\u8d1d\u53f6\u65af\u5206\u6790\u65b9\u6cd5\u68c0\u6d4b\u7684\u6548\u529b\u663e\u8457\u63d0\u5347\uff0c\u4f46\u662f\u5bf9\u4e8eNIPT PLUS\u800c\u8a00\uff0c\u8fd8\u9700\u8981\u4e00\u4e2a\u5341\u5206\u91cd\u8981\u7684\u6570\u636e\u53c2\u6570\u2014\u2014\u80ce\u513f\u6d53\u5ea6\u3002<\/div>\n<div>\u00a0<\/div>\n<div>\u80ce\u513f\u6d53\u5ea6\u662f\u5341\u5206\u91cd\u8981\u7684\u4fe1\u606f\u3002\u7f8e\u56fd\u533b\u5b66\u9057\u4f20\u5b66\u4e0e\u57fa\u56e0\u7ec4\u5b66\u5b66\u4f1a\uff08ACMG\uff09\u57282016\u5e74\u66f4\u65b0\u7684NIPT\u58f0\u660e\u4e2d\uff0c\u5bf9\u80ce\u513f\u6d53\u5ea6\u4e0eNIPT\u68c0\u6d4b\u6548\u529b\u8fdb\u884c\u4e86\u4e13\u95e8\u9610\u8ff0\uff0c\u5efa\u8baeNIPT\u68c0\u6d4b\u62a5\u544a\u5e94\u5305\u542b\u660e\u786e\u7684\u80ce\u513f\u6d53\u5ea6\u4fe1\u606f\u3002\u4f46\u662f\uff0c\u5bf9\u4e8e\u80ce\u513f\u6d53\u5ea6\u7684\u51c6\u786e\u5b9a\u91cf\u4e00\u76f4\u662f\u884c\u4e1a\u6280\u672f\u96be\u9898\u3002\u8fd9\u5176\u4e2d\uff0c\u7537\u80ce\u7684\u80ce\u513f\u6d53\u5ea6\u53ef\u4ee5\u5229\u7528Y\u67d3\u8272\u4f53\u8fdb\u884c\u5206\u6790\u5f97\u5230\uff0c\u4f46\u662f\u5973\u80ce\u7684\u80ce\u513f\u6d53\u5ea6\u5b9a\u91cf\u5374\u6ca1\u6709\u884c\u4e4b\u6709\u6548\u7684\u529e\u6cd5\u3002<\/div>\n<div>\u00a0<\/div>\n<div>\u00a0\u516d\u3001\u57fa\u4e8eSNP\u6742\u5408\u6027\u63a8\u65ad\u80ce\u513f\u6d53\u5ea6\u6a21\u578b\u00a0\u00a0<\/div>\n<div>\u8981\u60f3\u7a81\u7834\u5973\u80ce\u96be\u9898\uff0c\u5c31\u5fc5\u987b\u544a\u522b\u6027\u67d3\u8272\u4f53\u7684\u601d\u8def\uff0c\u901a\u8fc7\u5e38\u67d3\u8272\u4f53\u4fe1\u606f\u8fdb\u884c\u5206\u6790\uff0c\u624d\u6709\u7a81\u7834\u7684\u5e0c\u671b\u3002\u4f18\u8fc5\u533b\u5b66\u6b63\u662f\u57fa\u4e8e\u8fd9\u4e00\u6280\u672f\u51b3\u5fc3\uff0c\u628a\u5173\u6ce8\u91cd\u70b9\u653e\u5728\u4e86SNP\u9057\u4f20\u7279\u70b9\u7684\u5206\u6790\u4e0a\u3002<\/div>\n<div>\u6b64\u524d\u4e1a\u5185\u7684\u7814\u7a76\u6210\u679c\u4e2d\uff0c\u6709\u7684\u9700\u8981\u8fdb\u884c\u989d\u5916\u7684\u9776\u5411\u5bcc\u96c6\uff0c\u6709\u7684\u9700\u8981\u8f83\u9ad8\u6df1\u5ea6\u7684\u6d4b\u5e8f\uff0c\u5bf9\u4e8e\u4e34\u5e8a\u4e0a\u4f5c\u4e3a\u7b5b\u67e5\u624b\u6bb5\u7684NIPT PLUS\u800c\u8a00\uff0c\u4ec5\u7406\u8bba\u53ef\u884c\uff0c\u6210\u672c\u589e\u52a0\u95ee\u9898\u7a81\u51fa\uff0c\u662f\u5b9e\u73b0\u4e34\u5e8a\u4ea7\u4e1a\u8f6c\u5316\u7684\u91cd\u5927\u963b\u788d\u3002<\/div>\n<div>\u4f18\u8fc5\u6784\u5efa\u51fa\u4e86\u4e00\u4e2a\u6839\u636eSNP\u7684\u6742\u5408\u6027\u63a8\u65ad\u80ce\u513f\u6d53\u5ea6\u7684\u5206\u6790\u6a21\u578b\uff0c\u5728\u4fdd\u6301\u8f83\u4f4e\u6d4b\u5e8f\u6df1\u5ea6\u7684\u540c\u65f6\uff0c\u4ecd\u7136\u53ef\u4ee5\u51c6\u786e\u5206\u6790\u80ce\u513f\u6d53\u5ea6\u7684\u65b9\u6cd5\uff0c\u4e8b\u5b9e\u8bc1\u660e\uff0c\u5728\u4e34\u5e8a\u8f6c\u5316\u548c\u4ea7\u4e1a\u5316\u4e2d\u5207\u5b9e\u53ef\u884c\u3002<\/div>\n<div>\u00a0<\/div>\n<div>\u00a0\u4e03\u3001\u89e3\u51b3\u80ce\u513f\u6d53\u5ea6\u5b9a\u91cf\u96be\u9898\u7684\u524d\u6cbfNIPT PLUS\u00a0\u00a0<\/div>\n<div>\u5982\u524d\u6240\u8ff0\uff0c\u5bf9\u4e8e\u7537\u80ce\uff0c\u901a\u8fc7Y\u67d3\u8272\u4f53\u5b9a\u91cf\u76f8\u5bf9\u51c6\u786e\uff0c\u56e0\u6b64\u6700\u597d\u7684\u68c0\u9a8c\u65b9\u5f0f\u5c31\u662f\u7528\u7537\u80ce\u6027\u67d3\u8272\u4f53\u5b9a\u91cf\u65b9\u6cd5\u505a\u6bd4\u8f83\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\/RmFicvQBAkgB7cExIWuNJ6IRWXgAdAhCzVoIuDxStWaQWIxAGZibNuvmyiapOsxFCTHsRlqS01giaSGc1LFsuRlmng.png\" alt=\"RmFicvQBAkgB7cExIWuNJ6IRWXgAdAhCzVoIuDxStWaQWIxAGZibNuvmyiapOsxFCTHsRlqS01giaSGc1LFsuRlmng\"\/><\/figure><\/div>\n\n<div style=\"text-align: center;\">\u56fe6\uff1a\u4f18\u8fc5\u533b\u5b66\u56de\u987e\u4e8669\u4e2a\u771f\u5b9e\u7684\u7537\u80ce\u4e34\u5e8a\u6837\u672c\u6570\u636e\uff08\u6765\u6e90\/\u4f18\u8fc5\u533b\u5b66\uff09<\/div>\n<div>\u56fe\u4e2d\u4e24\u4e2a\u6570\u636e\u7ed3\u679c\u4e00\u81f4\u6027\u975e\u5e38\u68d2\uff0cR2 = 0.971\u3002\u504f\u79bb\u7684\u4e24\u4e2a\u5c0f\u661f\u661f\u53ef\u4e0d\u662f\u6211\u4eec\u7684\u7ed3\u679c\u4e0d\u597d\uff0c\u53cd\u800c\u662f\u7ed3\u679c\u592a\u597d\uff0c\u53d1\u73b0\u4e86\u4e24\u4e2a\u9f99\u51e4\u80ce\uff08\u80ce\u513f\u6d53\u5ea6\u662f\u7537\u80ce\u7684\u4e24\u500d\uff09\u3002<\/div>\n<div>\u5c31\u8fd9\u6837\uff0c\u4f18\u8fc5\u89e3\u51b3\u4e86\u80ce\u513f\u6d53\u5ea6\u5b9a\u91cf\u8fd9\u4e00\u96be\u9898\u3002\u8be5\u6210\u679c\u5df2\u7ecf\u7533\u62a5\u4e86\u591a\u9879\u56fd\u5185\u56fd\u9645\u4e13\u5229\u3002\u6709\u4e86\u6838\u5fc3\u7b97\u6cd5\u7684\u52a0\u6301\uff0c\u4f18\u8fc5\u8fc5\u901f\u63a8\u51fa\u4e86\u884c\u4e1a\u9886\u5148\u7684NIPT PLUS\uff0c\u80fd\u591f\u68c0\u6d4b16\u4e2a\u67d3\u8272\u4f53\u975e\u6574\u500d\u6027\u5f02\u5e38\u3001115\u79cd\u67d3\u8272\u4f53\u5fae\u7f3a\u5931\u5fae\u91cd\u590d\u7efc\u5408\u5f81\u4ee5\u53ca295\u4e2a\u667a\u529b\u969c\u788d\u76f8\u5173\u533a\u57df\uff0c\u5728\u56fd\u5185\u72ec\u5bb6\u5728\u62a5\u544a\u4e2d\u52a0\u5165\u80ce\u513f\u6d53\u5ea6\u4fe1\u606f\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\/RmFicvQBAkgB7cExIWuNJ6IRWXgAdAhCzgv7GpO5FicIKicLYPTmoicdTWdicnDHUC9tJlQyPziceU27FLiagLzHd0OXw.jpeg\" alt=\"RmFicvQBAkgB7cExIWuNJ6IRWXgAdAhCzgv7GpO5FicIKicLYPTmoicdTWdicnDHUC9tJlQyPziceU27FLiagLzHd0OXw\"\/><\/figure><\/div>\n\n<div style=\"text-align: center;\">\u56fe7\uff1a\u4f18\u8fc5\u533b\u5b66\u7684NIPT PLUS\u4ea7\u54c1\u8303\u56f4\uff08\u6765\u6e90\/\u4f18\u8fc5\u533b\u5b66\uff09<\/div>\n<div>\u516b\u3001\u6838\u5fc3\u7b97\u6cd5\u6280\u672f\u9a71\u52a8\uff0c\u51fa\u751f\u7f3a\u9677\u548c\u80bf\u7624\u7cbe\u51c6\u533b\u7597\u53cc\u4e3b\u7ebf\u00a0\u00a0<\/div>\n<div>NIPT\u5e02\u573a\u5df2\u7ecf\u4ece\u9ad8\u51b7\u7684\u84dd\u6d77\u53d8\u6210\u70bd\u70ed\u7684\u7ea2\u6d77\uff0c\u591a\u6570\u516c\u53f8\u4e3b\u8981\u4ee5\u505a\u6e20\u9053\u4e3a\u4e3b\u3002\u73b0\u9636\u6bb5\uff0c\u6210\u672c\u662f\u6700\u5927\u7684\u58c1\u5792\u3002\u800cNIPT\u6210\u672c\u7684\u63a7\u5236\u4e0e\u4f18\u5316\uff0c\u4e0d\u4ec5\u4f53\u73b0\u5728\u79d1\u6280\u7814\u53d1\u6c34\u5e73\u4e0a\uff0c\u66f4\u9700\u8981\u4e00\u5b9a\u65f6\u95f4\u7684\u57fa\u7840\u6027\u79ef\u7d2f\u3002<\/div>\n<div>\u00a0<\/div>\n<div>\u5bf9\u4e8eNIPT\u7684\u521b\u65b0\uff0c\u4f18\u8fc5\u4e3b\u8981\u7784\u51c6\u4e24\u4e2a\u65b9\u9762\uff1a\u6838\u5fc3\u7b97\u6cd5\u7684\u7a81\u7834\u4e0e\u68c0\u6d4b\u8303\u56f4\u7684\u6269\u5c55\u3002<\/div>\n<div>\u4f18\u8fc5\u901a\u8fc7\u77ed\u77ed\u51e0\u5e74\u7684\u53d1\u5c55\uff0c\u5728\u4e24\u6761\u7ebf\u90fd\u5df2\u7ecf\u5f62\u6210\u4e86\u81ea\u5df1\u7684\u5dee\u5f02\u5316\u53d1\u5c55\u65b9\u5411\u548c\u4ea7\u54c1\u4f18\u52bf\u3002NIPT\u7684\u8d1d\u53f6\u65af\u7edf\u8ba1\u6a21\u578b\u548c\u5973\u80ce\u5b9a\u91cf\u65b9\u6cd5\uff0c\u66f4\u662f\u4e3a\u4f18\u8fc5\u8d34\u4e0a\u4e86\u7b97\u6cd5\u9886\u5148\u7684\u6807\u7b7e\uff0c\u5f97\u5230\u4e86\u4e13\u5bb6\u7684\u9ad8\u5ea6\u8ba4\u53ef\u548c\u540c\u884c\u7684\u6548\u4eff\uff1b\u800c\u80bf\u7624\u7684\u56fd\u4eba\u4e73\u817a\u764c\u590d\u53d1\u98ce\u9669\u8bc4\u4f30\u548c\u6cdb\u80bf\u7624\u65e9\u7b5b\u7684\u4e34\u5e8a\u9879\u76ee\uff0c\u5219\u4e3a\u80bf\u7624\u7ebf\u660e\u786e\u4e86\u672a\u6765\u7740\u529b\u7684\u65b9\u5411\uff0c\u5c55\u73b0\u51fa\u5e7f\u9614\u7684\u53d1\u5c55\u524d\u666f\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\/RmFicvQBAkgB7cExIWuNJ6IRWXgAdAhCzGD4n9PwiaCFohsBvwSU0LYqkuhvibw3Giaz1QUmQXJ8NTBoyHwphE6Scg.jpeg\" alt=\"RmFicvQBAkgB7cExIWuNJ6IRWXgAdAhCzGD4n9PwiaCFohsBvwSU0LYqkuhvibw3Giaz1QUmQXJ8NTBoyHwphE6Scg\"\/><\/figure><\/div>\n\n<div style=\"text-align: center;\">\u56fe8\uff1a\u4f18\u8fc5\u533b\u5b66\u548c\u534e\u5927\u667a\u9020\u5f3a\u5f3a\u8054\u5408\uff08\u6765\u6e90\/\u4f18\u8fc5\u533b\u5b66\uff09<\/div>\n<div>\u4f18\u8fc5\u533b\u5b66\u8fdb\u5165NIPT\u5e02\u573a\u4ee5\u6765\uff0c\u4f9d\u9760\u6781\u5f3a\u7684\u6e20\u9053\u4f18\u52bf\u5728\u5feb\u901f\u5360\u9886\u5e02\u573a\u4efd\u989d\u65b9\u9762\u8fdb\u5c55\u663e\u8457\uff0c\u4f46\u4f18\u8fc5\u7684\u6280\u672f\u56e2\u961f\u663e\u7136\u6709\u7740\u66f4\u5927\u7684\u91ce\u5fc3\u548c\u524d\u77bb\u7684\u773c\u5149\u3002<\/div>\n<div>\u4ece\u5317\u4eac\u5e02\u81ea\u7136\u79d1\u5b66\u57fa\u91d1\u5230\u79d1\u6280\u90e8\u5341\u4e09\u4e94\u91cd\u5927\u4e13\u9879\u518d\u5230TriMax\u5168\u56fd\u591a\u4e2d\u5fc3\u4e34\u5e8a\u8bd5\u9a8c\uff0c\u4f18\u8fc5\u533b\u5b66\u5b8c\u6210\u4e86\u4eceNIPT\u6280\u672f\u5e76\u9a71\u8005\u3001\u5e02\u573a\u8ddf\u968f\u8005\uff0c\u5230NIPT 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