{"id":7894,"date":"2024-11-19T21:25:00","date_gmt":"2024-11-19T13:25:00","guid":{"rendered":"https:\/\/www.geneclub.net.cn\/index.php\/2024\/11\/19\/102100101\/"},"modified":"2026-04-07T16:12:52","modified_gmt":"2026-04-07T08:12:52","slug":"102100101","status":"publish","type":"post","link":"https:\/\/www.geneclub.net.cn\/index.php\/2024\/11\/19\/102100101\/","title":{"rendered":"\u4e24\u4e07\u5b57\u7efc\u8ff0\uff1a\u57fa\u56e0\u6280\u672f\u5728\u751f\u80b2\u5065\u5eb7\u53ca\u7f55\u89c1\u75c5\u4e2d\u7684\u5e94\u7528"},"content":{"rendered":"<p><!-- wechat_content_hash: fde3775a90801432 --><\/p>\n<p>\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter\"><img decoding=\"async\" src=\"https:\/\/www.geneclub.net.cn\/wp-content\/uploads\/images\/RmFicvQBAkgBJ4sibF985CB53GqXpdUXJY1ibXic4tk7cicKMPtgyMRqWYUopq6yOghicWK3LOe3qL8V3Rjia4kHVKgsA.jpeg\" 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Gene\u00a0\u63a8\u8fdf\u52302024\u5e74\u4e0b\u534a\u5e74\u62162025\u5e74\u3002\u00a0<\/p>\n<p>\u56fd\u5185\u4f01\u4e1a\u4ee5\u534e\u5927\u57fa\u56e0\u4e3a\u4f8b\uff0c2023\u5e74\u8425\u653643.50\u4ebf\u5143\uff0c\u5f52\u6bcd\u51c0\u5229\u6da69290.04\u4e07\u5143\u3002\u5176\u4e2d\u751f\u80b2\u5065\u5eb7\u4e1a\u52a1\u4f5c\u4e3a\u6838\u5fc3\u4e1a\u52a1\u4e4b\u4e00\uff0c\u8425\u653611.78\u4ebf\u5143\uff0c\u540c\u6bd4\u589e\u957f5.55%\u3002NIPT\u4e1a\u52a1\u4fdd\u6301\u5e73\u7a33\uff0c\u643a\u5e26\u8005\u7b5b\u67e5\u68c0\u6d4b\u548c\u65b0\u751f\u513f\u9057\u4f20\u75c5\u57fa\u56e0\u7b5b\u67e5\u4e1a\u52a1\u8425\u6536\u6709\u8f83\u5927\u589e\u957f\uff08\u5206\u522b\u662f42.45%\uff0c45.52%\uff09\u3002\u5728\u751f\u6b96\u5065\u5eb7\u7684\u4e34\u5e8a\u670d\u52a1\u53ca\u4ea7\u4e1a\u8fdb\u7a0b\u4e2d\uff0c\u9700\u8981\u5c24\u5176\u91cd\u89c6\u751f\u547d\u4f26\u7406\u4ee5\u53ca\u4eba\u7c7b\u9057\u4f20\u8d44\u6e90\u7ba1\u7406\u3002\u5176\u4e2d\uff0c\u751f\u547d\u4f26\u7406\u4e3b\u8981\u8003\u8651\u53d7\u68c0\u8005\u7684\u77e5\u60c5\u540c\u610f\u548c\u4fe1\u606f\u4fdd\u5bc6\uff08\u6570\u636e\u53ca\u75c5\u53f2\u7b49\uff09\uff1b\u4eba\u7c7b\u9057\u4f20\u7ba1\u7406\u4e3b\u8981\u8003\u8651\u6837\u672c\u7269\u6599\u53ca\u9057\u4f20\u4fe1\u606f\u7684\u51fa\u5165\u5883\u5408\u89c4\u6027\u7b49\u3002<\/p>\n<p>&nbsp;<\/p>\n<p>\u4e8c\u3001\u57fa\u56e0\u6280\u672f\u4e0e\u643a\u5e26\u8005\u7b5b\u67e5<\/p>\n<p>\uff08\u4e00\uff09\u9700\u6c42<\/p>\n<p>\u6839\u636e\u7edf\u8ba1\uff0c\u5a74\u513f\u6b7b\u4ea1\u4e8b\u4ef6\u4e2d\u670920%\u5f52\u56e0\u4e8e\u5355\u57fa\u56e0\u75c5\uff08\u5b5f\u5fb7\u5c14\u9057\u4f20\u75c5\uff09 (Callum J. Bell, 2011)\u3002OMIM\u6570\u636e\u5e93\u663e\u793a\u5df2\u53d1\u73b0\u7684\u5355\u57fa\u56e0\u75c5\u67096000\u4f59\u79cd\uff0c\u5927\u591a\u6570\u81f4\u6b7b\u3001\u81f4\u7578\u6216\u81f4\u6b8b\uff0c\u800c\u4ec5\u6709\u4e0d\u52305%\u7684\u5355\u57fa\u56e0\u75c5\u6709\u5bf9\u5e94\u7684\u836f\u7269\u4e14\u4ef7\u683c\u6602\u8d35\u3002\u7edd\u5927\u591a\u6570\u5355\u57fa\u56e0\u75c5\u7279\u522b\u662f\u5355\u57fa\u56e0\u9690\u6027\u9057\u4f20\u75c5\uff081000\u4f59\u79cd\uff09\uff0c\u5f88\u96be\u901a\u8fc7\u5e38\u89c4\u68c0\u67e5\u53d1\u73b0\u3002\u901a\u8fc7\u57fa\u56e0\u6280\u672f\u65e9\u671f\u53d1\u73b0\u663e\u5f97\u6781\u5176\u5173\u952e\u3002<\/p>\n<p>\uff08\u4e8c\uff09\u5b9a\u4e49<\/p>\n<p>\u643a\u5e26\u8005\u7b5b\u67e5\u662f\u8fd1\u5e74\u6765\u751f\u80b2\u5065\u5eb7\u57fa\u56e0\u68c0\u6d4b\u9886\u57df\u4e13\u5bb6\u53d1\u5c55\u8f83\u5feb\u7684\u5e94\u7528\u4e4b\u4e00\u3002\u4ece\u5355\u4e00\u75be\u75c5\u6269\u5c55\u5230\u591a\u75be\u75c5\uff0c\u4ece\u9ad8\u98ce\u9669\u4eba\u7fa4\u6269\u5c55\u5230\u4f4e\u98ce\u9669\u4eba\u7fa4\uff0c\u4ece\u5907\u5b55\/\u5b55\u671f\u592b\u5987\u751f\u80b2\u8bc4\u4f30\u5230\u4e2a\u4eba\u5065\u5eb7\u7ba1\u7406\u3002<\/p>\n<p>\u5e38\u89c4\u7684\u643a\u5e26\u8005\u7b5b\u67e5\u662f\u7b5b\u67e5\u5e38\u67d3\u8272\u4f53\u9690\u6027\u548cX\u8fde\u9501\u9057\u4f20\u75c5\u7684\u5e38\u7528\u7b56\u7565\uff0c\u5373\u5728\u5b55\u524d\u6216\u65e9\u5b55\u671f\u901a\u8fc7\u57fa\u56e0\u68c0\u6d4b\u5bf9\u592b\u5987\u53cc\u65b9\u8fdb\u884c\u9057\u4f20\u81f4\u75c5\u4f4d\u70b9\u7b5b\u67e5\uff0c\u53d1\u73b0\u81f4\u75c5\u53d8\u5f02\u7684\u643a\u5e26\u8005\uff0c\u4ee5\u6b64\u9884\u5224\u751f\u80b2\u9057\u4f20\u75c5\u60a3\u513f\u7684\u6f5c\u5728\u98ce\u9669\uff0c\u6307\u5bfc\u751f\u80b2\u5065\u5eb7\uff0c\u964d\u4f4e\u51fa\u751f\u7f3a\u9677\u3002<\/p>\n<p>2024\u5e74\u4e2d\u56fd\u9057\u4f20\u5b66\u4f1a\u9057\u4f20\u8bca\u65ad\u5206\u4f1a\u548c\u4e0a\u6d77\u9057\u4f20\u5b66\u4f1a\u4e34\u5e8a\u9057\u4f20\u548c\u9057\u4f20\u54a8\u8be2\u4e13\u59d4\u4f1a\u63d0\u51fa\u4e86\u201c\u7efc\u5408\u6027\u643a\u5e26\u8005\u7b5b\u67e5\u201d\u7684\u6982\u5ff5\uff0c\u5021\u5bfc\u7b5b\u67e5\u7684\u75be\u75c5\u4e0d\u4ec5\u5305\u62ec\u5e38\u67d3\u8272\u4f53\u9690\u6027\u548cX\u8fde\u9501\u9057\u4f20\u75c5\uff0c\u4e5f\u53ef\u4ee5\u5305\u62ec\u5177\u6709\u4e34\u5e8a\u5e72\u9884\u610f\u4e49\u7684\u6210\u5e74\u663e\u6027\u9057\u4f20\u75c5\uff0c\u5728\u751f\u80b2\u8bc4\u4f30\u548c\u4e2a\u4eba\u9057\u4f20\u75c5\u98ce\u9669\u7ba1\u7406\u4e0a\u5747\u5177\u6709\u91cd\u8981\u4ef7\u503c\u3002<\/p>\n<p>\uff08\u4e09\uff09\u5e94\u7528<\/p>\n<p>\u643a\u5e26\u8005\u7b5b\u67e5\u7684\u5e94\u7528\u53ef\u4ee5\u8ffd\u6eaf\u5230\u4e0a\u4e16\u7eaa\u4e03\u5341\u5e74\u4ee3\uff0c\u57282017\u5e74\u524d\u540e\u52a0\u901f\u53d1\u5c55\uff0c\u6211\u56fd\u9057\u4f20\u9886\u57df\u4e13\u5bb6\u57282024\u5e74\u8fde\u7eed\u53d1\u8868\u4e09\u7bc7\u643a\u5e26\u8005\u7b5b\u67e5\u7684\u4e13\u5bb6\u5171\u8bc6\u3002<\/p>\n<p>\u643a\u5e26\u8005\u7b5b\u67e5\u53d1\u5c55\u7684\u91cc\u7a0b\u7891<\/p>\n<p>1970 \u5e74\uff0c\u7f8e\u56fd\u548c\u52a0\u62ff\u5927\u5728\u793e\u533a\u4e3a\u80b2\u9f84\u7684\u5fb7\u7cfb\u72b9\u592a\u4eba\u5f00\u5c55 Tay-Sachs Disease (TSD) \u643a\u5e26\u8005\u7b5b\u67e5\uff0c\u9488\u5bf9\u7279\u5b9a\u79cd\u65cf(\u9ad8\u5371\u4eba\u7fa4)\u7684\u7279\u5b9a\u75be\u75c5\u7684\u7b5b\u67e5\u4f7f\u5f97\u53d1\u75c5\u7387\u663e\u8457\u4e0b\u964d;<\/p>\n<p>2008 \u5e74\uff0c\u7f8e\u56fd\u533b\u5b66\u9057\u4f20\u5b66\u548c\u57fa\u56e0\u7ec4\u5b66\u4f1a(ACMG)\u5411\u5fb7\u7cfb\u72b9\u592a\u4eba\u63a8\u8350 9 \u79cd\u9057\u4f20\u75c5\u7684\u643a\u5e26\u8005\u7b5b\u67e5;<\/p>\n<p>2011 \u5e74\uff0c\u7f8e\u56fd\u57fa\u56e0\u7ec4\u8d44\u6e90\u4e2d\u5fc3\u56e2\u961f\u9996\u6b21\u62a5\u9053\u91c7\u7528 NGS Panel \u8fdb\u884c\u9057\u4f20\u75c5\u643a\u5e26\u8005\u7b5b\u67e5(Callum J. Bell\uff0c2011)\uff0c\u53d1\u73b0\u4eba\u5747\u643a\u5e26 2.8 \u4e2a\u81f4\u75c5\u7a81\u53d8;<\/p>\n<p>2013 \u5e74\uff0c ACMG\u53d1\u5e03\u5173\u4e8e\u4ea7\u524d\/\u5b55\u524d\u8fdb\u884c\u6269\u5c55\u643a\u5e26\u8005\u7b5b\u67e5(Expanded Carrier Screening\uff0cECS)\u7684\u58f0\u660e\uff0c\u5373\u4ece\u5355\u4e00\u75be\u75c5\u6269\u5c55\u5230\u591a\u75be\u75c5\uff0c\u4ece\u9ad8\u98ce\u9669\u4eba\u7fa4\u6269\u5c55\u5230\u4f4e\u98ce\u9669\u4eba\u7fa4;<\/p>\n<p>2017 \u5e74\uff0c\u7f8e\u56fd\u5987\u4ea7\u79d1\u533b\u5e08\u5b66\u4f1a(ACOG)\u53d1\u5e03\u300a\u57fa\u56e0\u7ec4\u533b\u5b66\u65f6\u4ee3\u7684\u57fa\u56e0\u643a\u5e26\u8005\u7b5b\u67e5\u300b\u7cfb\u5217\u6307\u5357\uff0c\u63d0\u51fa\u5e94\u7ed9\u6bcf\u5bf9\u5907\u5b55\u592b\u5987\u53ca\u5b55\u5987\u63d0\u4f9b\u643a\u5e26\u8005\u7b5b\u67e5\u54a8\u8be2\uff0c\u7279\u522b\u662f\u9488\u5bf9\u643a\u5e26\u9891\u7387\u5927\u4e8e1%\u7684\u5e38\u89c1\u9057\u4f20\u75c5\uff0c\u8003\u8651\u4e34\u5e8a\u5b9e\u7528\u6027\u3001\u60a3\u8005\u538b\u529b\u3001\u68c0\u6d4b\u6210\u672c\u4ee5\u53ca\u9057\u4f20\u54a8\u8be2\u6210\u672c\uff0c\u6536\u7eb3 96 \u79cd\u75be\u75c5;<\/p>\n<p>2020 \u5e74\uff0c\u300a\u4e2d\u534e\u5987\u4ea7\u79d1\u6742\u5fd7\u300b\u53d1\u5e03\u4e13\u5bb6\u5171\u8bc6\u300a\u5355\u57fa\u56e0\u9690\u6027\u9057\u4f20\u75c5\u6269\u5c55\u6027\u643a\u5e26\u8005\u7b5b\u67e5\u7684\u9057\u4f20\u54a8\u8be2\u300b;<\/p>\n<p>2021 \u5e74\uff0cACMG \u53d1\u5e03\u300a\u57fa\u4e8e DNA \u7684\u5065\u5eb7\u4eba\u7fa4\u643a\u5e26\u8005\u7b5b\u67e5\u58f0\u660e\u300b;\u540c\u5e74 ACMG \u5728\u66f4\u65b0\u7684\u300a\u5e38\u67d3\u8272\u4f53\u9690\u6027\u548c X \u8fde\u9501\u75be\u75c5\u643a\u5e26\u8005\u7b5b\u67e5\u6307\u5357\u300b\u4e2d\u63d0\u51fa\uff0c\u5e94\u5411\u6240\u6709\u6000\u5b55\u548c\u5907\u5b55\u8005\u63d0\u4f9b\u4e09\u7ea7\u643a\u5e26\u8005\u7b5b\u67e5\uff0c\u5373\u57fa\u56e0\u643a\u5e26\u9891\u7387\u4e3a1\/200\u7684\u57fa\u56e0\uff08\u5305\u62ec X 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2024\u5e74\u7684\u9884\u4f30\uff0c\u7531\u4e8e\u4e0d\u826f\u751f\u6d3b\u65b9\u5f0f\uff08\u5438\u70df\u3001\u8fc7\u91cf\u996e\u9152\u3001\u80a5\u80d6\u7b49\uff09\u3001\u73af\u5883\u6c61\u67d3\u3001\u63a5\u89e6\u6709\u6bd2\u6709\u5bb3\u7269\u8d28\u7b49\u539f\u56e0\uff0c\u4e0d\u5b55\u4e0d\u80b2\uff08\u5305\u62ec\u7537\u6027\u4e0d\u80b2\u75c7\u548c\u5973\u6027\u4e0d\u5b55\u75c7\uff09\u5f71\u54cd\u7740\u5168\u74031\/6\u7684\u80b2\u9f84\u4eba\u53e3\u3002\u539f\u56fd\u5bb6\u536b\u8ba1\u59d42012\u5e74\u53d1\u5e03\u7684\u300a\u4e2d\u56fd\u4e0d\u5b55\u4e0d\u80b2\u73b0\u72b6\u8c03\u7814\u62a5\u544a\u300b\u663e\u793a\u6211\u56fd\u4e0d\u5b55\u4e0d\u80b2\u4eba\u6570\u8d855000 \u4e07\u3002\u00a0<\/p>\n<p>\u89e3\u51b3\u201c\u4e0d\u80fd\u751f\u201d\u7684\u95ee\u9898\u7684\u4e3b\u8981\u65b9\u5f0f\u4e4b\u4e00\u662f\u8f85\u52a9\u751f\u6b96\uff08Assisted Reproductive Technology\uff0cART\uff09\uff0c\u5305\u62ec\u4eba\u5de5\u6388\u7cbe\uff08Artificial 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et al. Nature 214, 576\u2013577\uff09\u548c1987\u5e74\u7684Lesch-Nyan\u7efc\u5408\u5f81\u5c0f\u9f20\u6a21\u578b\uff08Monk, M. et al.Lancet Lond. Engl. 2, 423\u2013425\uff09\u3002<\/p>\n<p>\u5728\u901a\u8fc7\u4f53\u5916\u53d7\u7cbe-\u80da\u80ce\u79fb\u690d\u6280\u672f\u8fdb\u884c\u8f85\u52a9\u751f\u6b96\u8fc7\u7a0b\u4e2d\uff0c\u9488\u5bf9\u643a\u5e26\u67d3\u8272\u4f53\u5f02\u5e38\u3001\u5355\u57fa\u56e0\u9057\u4f20\u75c5\u5b50\u4ee3\u9ad8\u98ce\u9669\u3001\u4e25\u91cd\u75be\u75c5\u7684\u9057\u4f20\u6613\u611f\u57fa\u56e0\u7684\u81f4\u75c5\u7a81\u53d8\u3001\u4e0d\u826f\u5b55\u4ea7\u53f2\uff08\u4e0d\u660e\u539f\u56e0\u53cd\u590d\u81ea\u7136\u6d41\u4ea7\u3001\u4e0d\u660e\u539f\u56e0\u53cd\u590d\u79cd\u690d\u5931\u8d25\u3001\u4e25\u91cd\u7578\u7cbe\u5b50\u75c7\uff09\u7b49\u4e14\u6709\u660e\u786e\u9057\u4f20\u5b66\u75c5\u56e0\u6216\u9700\u4eba\u7c7b\u767d\u7ec6\u80de\u6297\u539f\uff08HLA\uff09\u914d\u578b\u7684\u592b\u5987\uff0c\u8fdb\u884c\u80da\u80ce\u690d\u5165\u524d\u9057\u4f20\u5b66\u68c0\u6d4b(Preimplantation Genetic Testing\uff0cPGT)\uff0c\u5373\u5728\u7cbe\u5b50\u548c\u5375\u5b50\u7ed3\u5408\u800c\u6210\u7684\u80da\u80ce\u7740\u5e8a\u4e4b\u524d\u5bf9\u6781\u4f53\u6216\u80da\u80ce\u8fdb\u884cDNA\u68c0\u6d4b\uff0c\u8ba9\u9762\u4e34\u8f83\u9ad8\u9057\u4f20\u98ce\u9669\u598a\u5a20\u7684\u592b\u5987\u9009\u62e9\u9057\u4f20\u5b66\u6b63\u5e38\u7684\u80da\u80ce\u690d\u5165\u5b50\u5bab\uff0c\u964d\u4f4e\u6216\u907f\u514d\u81ea\u7136\u6d41\u4ea7\u3001\u9057\u4f20\u6027\u51fa\u751f\u7f3a\u9677\u7b49\u98ce\u9669\u3002<\/p>\n<p>\uff08\u4e09\uff09\u6280\u672f<\/p>\n<p>\u6839\u636e\u56fd\u9645\u8f85\u52a9\u751f\u6b96\u6280\u672f\u76d1\u6d4b\u59d4\u5458\u4f1a\uff08ICMART \uff092017 \u5e74 \u7684\u5b9a\u4e49\uff0cPGT \u5206\u4e3a PGT-A(\u975e\u6574\u500d\u4f53PGT)\u3001PGT-M(\u5355\u57fa\u56e0\u75c5PGT)\u548c PGT-SR(\u67d3\u8272\u4f53\u7ed3\u6784\u91cd\u6392PGT)\u3002\u5176\u4e2d\uff0c PGT-A \u5bf9 \u5e94\u6b64\u524d\u7684\u540d\u79f0 PGS\uff08\u80da\u80ce\u690d\u5165\u524d\u9057\u4f20\u7b5b\u67e5\uff09\u5bf9\u5e94\uff0c PGT-M \u548c PGT-SR \u5bf9\u5e94 PGD\uff08\u80da\u80ce \u690d\u5165\u524d\u9057\u4f20\u8bca\u65ad\uff09\u3002\u4e3a\u65b9\u9762\u53d9\u8ff0\uff0c\u4ee5\u4e0b\u7edf\u79f0\u4e3aPGT\uff0c\u4e0d\u7ec6\u5206\u9610\u8ff0\u3002\u5e02\u9762\u4e0a\u6709\u65f6\u4ee5\u4f20\u7edf IVF-ET \u80da\u80ce\u690d\u5165\u524d\u9057\u4f20\u5b66\u8bca\u65ad\/\u7b5b\u67e5\u6280\u672f\u4e13\u5bb6\u5171\u8bc6\uff082018\u7248\uff09 \u6280\u672f\u7684\u8bd5\u7ba1\u5a74\u513f\u4e3a\u7b2c\u4e00\u4ee3\uff0c\u4ee5\u5e94\u7528\u5375\u80de\u6d46\u5185\u5355\u7cbe\u5b50\u6ce8\u5c04(ICSI)\u6280\u672f\u4e3a\u7b2c\u4e8c\u4ee3\uff0c\u4ee5\u5e94\u7528PGT \u6280\u672f\u7684\u8bd5\u7ba1\u5a74\u513f\u4e3a\u7b2c\u4e09\u4ee3\u3002\u5e7f\u4e49\u7684\u751f\u6b96\u9057\u4f20\u68c0\u6d4b\u5305\u62ec\u80da\u80ce\u690d\u5165\u524d\u57fa\u56e0\u68c0\u6d4b(PGT)\u3001\u4ea7\u524d\u57fa\u56e0\u68c0\u6d4b(\u5b55\u671f\u53d1\u73b0\u9057\u4f20\u75c5\u76f8\u5173\u53d8\u5f02)\u548c\u4ea7\u540e\u65b0\u751f\u513f\u7b5b\u67e5(\u901a\u8fc7 WES \u6216 WGS \u6765\u7b5b\u67e5\u9057\u4f20\u75c5)\u3002\u6b64\u7ae0\u8282\u4ee5 PGT\u4e3a\u5bf9\u8c61\u8fdb\u884c\u8ba8\u8bba\u3002\u00a0<\/p>\n<p>PGT\u7684\u6280\u672f\u5e73\u53f0\u5305\u62ec\u8367\u5149\u539f\u4f4d\u6742\u4ea4\uff08FISH\uff09\u3001\u57fa\u56e0\u82af\u7247\u3001\u9ad8\u901a\u91cf\u6d4b\u5e8f\u3001\u5355\u7ec6\u80de\u6d4b\u5e8f\u6280\u672f\u7b49\u3002\u4e0e\u5176\u4ed6\u751f\u80b2\u5065\u5eb7\u68c0\u6d4b\u7684\u6838\u5fc3\u533a\u522b\u662f\u53d6\u6837\u3001\u5e94\u7528\u8d44\u8d28\u4ee5\u53ca\u4e0e\u540e\u7eed\uff08\u8f85\u52a9\u751f\u6b96\uff09\u73af\u8282\u7684\u8026\u5408\u3002<\/p>\n<p>\uff08\u56db\uff09\u5e94\u7528<\/p>\n<p>PGT\u6700\u65e9\u5e94\u7528\u4e8e\u4eba\u662f\u68c0\u6d4b\u5355\u57fa\u56e0\u75be\u75c5\u548c\u6027\u67d3\u8272\u4f53\u8fde\u9501\u76f8\u5173\u75be\u75c5\uff0c Elana Kontogianni\u4e8e1989\u5e74\u5b9e\u73b0\u4e86\u8fd9\u9879\u6280\u672f\uff0c\u5e76\u7531Handyside\u7b49\u4eba\u4e8e1900\u5e74\u6b63\u5f0f\u5e94\u7528\u4e34\u5e8a\u5e76\u53d1\u8868\u5728\u300a\u81ea\u7136\u300b\u671f\u520a\uff08Handyside, A.H. et al. Nature 344, 768\u201370\uff09\u3002\u6211\u56fd\u81ea1990\u5e74\u5f00\u5c55PGT\u52a8\u7269\u6a21\u578b\u7814\u7a76\uff0c1999\u5e74\u5f00\u59cb\u5728\u4e34\u5e8a\u63a2\u7d22\uff0c2003\u5e74\u83b7\u5f97\u4e34\u5e8a\u51c6\u5165\u3002\u00a0<\/p>\n<p>PGT\u6700\u521d\u5e94\u7528\u4e8e\u4e00\u5c0f\u90e8\u5206\u9ad8\u53d1\u4e25\u91cd\u6027\u9057\u4f20\u75c5\uff0c\u540e\u6765\u9010\u6b65\u6269\u5927\u5e94\u7528\u8303\u56f4\u5230\u5305\u62ec\u4f4e\u5916\u663e\u7387\u548c\u8fdf\u53d1\u6027\u9057\u4f20\u6027\u75be\u75c5\u7684\u68c0\u6d4b\uff0c\u5305\u62ec\u6027\u67d3\u8272\u4f53\u8fde\u9501\u548c\u5e38\u67d3\u8272\u4f53\u5355\u57fa\u56e0\u75be\u75c5\u3001\u4eba\u7c7b\u767d\u7ec6\u80de\u6297\u539f(human leukocyte antigen\uff0cHLA)\u914d\u578b\u548c\u6613\u4f4d\u7b49\uff0c\u4e5f\u7528\u4e8e\u590d\u53d1\u6027\u6d41\u4ea7\u3001\u53cd\u590d\u8f85\u52a9\u751f\u6b96\u5931\u8d25\u7b49\u4e0d\u826f\u5b55\u4ea7\u53f2\u7684\u9057\u4f20\u68c0\u6d4b\u3002\u7b5b\u67e5\u7684\u5bf9\u8c61\u4ece\u598a\u5a20\u5f02\u5e38\u6216\u6709\u9057\u4f20\u75c5\u5bb6\u65cf\u53f2\u4eba\u7fa4\u6269\u5927\u5230\u66f4\u4e3a\u5e7f\u6cdb\u7684\u643a\u5e26\u8005\u7b5b\u67e5\u9ad8\u98ce\u9669\u5bb6\u5ead\u3002\u00a0<\/p>\n<p>2001\u5e74\uff0c\u6211\u56fd\u539f\u536b\u751f\u90e8\u53d1\u5e03\u300a\u4eba\u7c7b\u8f85\u52a9\u751f\u6b96\u6280\u672f\u7ba1\u7406\u529e\u6cd5\u300b\u30022024\u5e74\uff0c\u6839\u636e\u56fd\u5bb6\u536b\u751f\u5065\u5eb7\u59d4\u5987\u5e7c\u5065\u5eb7\u53f8\u66f4\u65b0\u7684\u300a\u7ecf\u6279\u51c6\u5f00\u5c55\u4eba\u7c7b\u8f85\u52a9\u751f\u6b96\u6280\u672f\u548c\u8bbe\u7f6e\u4eba\u7c7b\u7cbe\u5b50\u5e93\u7684\u533b\u7597\u673a\u6784\u540d\u5355\u300b\uff08\u622a\u81f32023\u5e7412\u6708\uff09\uff0c\u6211\u56fd\u7ecf\u6279\u51c6\u5f00\u5c55\u4eba\u7c7b\u8f85\u52a9\u751f\u6b96\u6280\u672f\u7684\u533b\u7597\u673a\u6784\u6709602\u5bb6\uff08\u76f8\u5bf92022\u5e74\u589e\u52a0\u4e8643\u5bb6\uff09\uff0c\u7ecf\u6279\u51c6\u8bbe\u7f6e\u4eba\u7c7b\u7cbe\u5b50\u5e93\u7684\u533b\u7597\u673a\u6784\u670929\u5bb6\uff08\u4e0e2022\u5e74\u76f8\u540c\uff09\u3002\u00a0<\/p>\n<p>\u57fa\u4e8e\u9ad8\u901a\u91cf\u57fa\u56e0\u6d4b\u5e8f\u7684PGT\u8bd5\u70b9\uff0c\u59cb\u4e8e2015\u5e74\u539f\u56fd\u5bb6\u536b\u8ba1\u59d4\u5987\u5e7c\u5065\u5eb7\u670d\u52a1\u53f8\u53d1\u5e03\u300a\u5173\u4e8e\u8f85\u52a9\u751f\u6b96\u673a\u6784\u5f00\u5c55\u9ad8\u901a\u91cf\u57fa\u56e0\u6d4b\u5e8f\u690d\u5165\u524d\u80da\u80ce\u9057\u4f20\u5b66\u8bca\u65ad\u4e34\u5e8a\u5e94\u7528\u8bd5\u70b9\u5de5\u4f5c\u7684\u901a\u77e5\u300b\u30022015\u5e74\u662fPGT\u7684\u91cc\u7a0b\u7891\u3002\u5728\u8fd9\u4e00\u5e74\u524d\u540e(2012-2016\u5e74\uff0c\u96c6\u4e2d\u57282015\u5e74)\uff0c\u4e2d\u5c71\u5927\u5b66\u9644\u5c5e\u7b2c\u4e00\u533b\u9662\u3001\u4e2d\u4fe1\u6e58\u96c5\u751f\u6b96\u4e0e\u9057\u4f20\u4e13\u79d1\uff08\u4e0e\u534e\u5927\u57fa\u56e0\u5408\u4f5c\uff09\u3001\u5317\u4eac\u5927\u5b66\u7b2c\u4e09\u533b\u9662\uff08\u4e0e\u4ebf\u5eb7\u57fa\u56e0\u5408\u4f5c\uff09\u3001\u89e3\u653e\u519b\u603b\u533b\u9662\uff08\u4e0e\u4ebf\u5eb7\u57fa\u56e0\u5408\u4f5c\uff09\u3001\u590d\u65e6\u5927\u5b66\u9644\u5c5e\u5987\u4ea7\u79d1\u533b\u9662\u96c6\u7231\u9057\u4f20\u4e0e\u4e0d\u80b2\u8bca\u7597\u4e2d\u5fc3\u7b49\u4e34\u5e8a\u673a\u6784\u57fa\u4e8e\u4e0d\u540c\u7684PGT\u6280\u672f\u5e94\u7528\u4e8e\u5065\u5eb7\u8bd5\u7ba1\u5a74\u513f\u7684\u8bde\u751f\u3002\u00a0<\/p>\n<p>\uff08\u4e94\uff09\u4ea7\u4e1a<\/p>\n<p>\u76ee\u524d\u80da\u80ce\u690d\u5165\u524d\u9057\u4f20\u5b66\u68c0\u6d4b\u4e3b\u8981\u7531\u6709\u8d44\u8d28\u7684\u533b\u9662\u5411\u53d7\u68c0\u8005\u63d0\u4f9b\u68c0\u6d4b\u670d\u52a1\u3002\u7ec8\u7aef\u5e02\u573a\u7531\u516c\u7acb\u533b\u9662\u4e3b\u5bfc\uff0c\u9f99\u5934\u673a\u6784\u5305\u62ec\u4e2d\u4fe1\u6e58\u96c5\u4ee5\u53ca\u9526\u6b23\u751f\u6b96\u533b\u7597\u96c6\u56e2\uff0c \u7b2c\u4e09\u65b9\u57fa\u56e0\u68c0\u6d4b\u516c\u53f8\u901a\u8fc7\u76f4\u9500\u6216\u7ecf\u9500\u5546\u7684\u65b9\u5f0f\u5411\u7ec8\u7aef\u63d0\u4f9b PGT \u7b49\u8bd5\u5242\u76d2\u3002\u00a0<\/p>\n<p>2024\u5e74\uff0c\u4e0a\u6d77\u3001\u6c5f\u897f\u3001\u5c71\u4e1c\u3001\u5185\u8499\u53e4\u3001\u7518\u8083\u7b49\u5730\u5ba3\u5e03\uff0c\u90e8\u5206\u8f85\u52a9\u751f\u6b96\u6240\u4ea7\u751f\u7684\u8d39\u7528\u7eb3\u5165\u533b\u4fdd\u652f\u4ed8\u8303\u56f4\u3002\u65e9\u57282023\u5e74\uff0c\u5317\u4eac\u5c0616\u9879\u8f85\u52a9\u751f\u6b96\u6280\u672f\u9879\u76ee\u7eb3\u5165\u533b\u4fdd\u7532\u7c7b\u62a5\u9500\uff0c\u6210\u4e3a\u5168\u56fd\u7b2c\u4e00\u4e2a\u5c06\u8f85\u52a9\u751f\u6b96\u6280\u672f\u7eb3\u5165\u533b\u4fdd\u7684\u5730\u533a\u3002\u00a0<\/p>\n<p>\u4ee3\u8868\u6027\u7684\u80da\u80ce\u690d\u5165\u524d\u9057\u4f20\u5b66\u68c0\u6d4b\u516c\u53f8\u5305\u62ec Vitrolife\u3001Natera\u3001\u8d1d\u5eb7\u533b\u7597\u3001\u5e8f\u5eb7\u57fa\u56e0\u3001\u5609\u5b9d\u4ec1\u548c\u7b49\u3002\u56fd\u5916\u4f01\u4e1aVitrolife 2023\u5e74\u8425\u6536 3.36 \u4ebf\u7f8e\u5143\uff08\u540c\u6bd4\u589e\u957f9%\uff09\uff1bNatera\u8425\u653610.83\u4ebf\u7f8e\u5143\uff08\u540c\u6bd4\u589e\u957f32%\uff09\uff1b\u56fd\u5185\u4f01\u4e1a\u8d1d\u5eb7\u533b\u75972023\u5e74\u6536\u5165 2.08\u4ebf\u5143\uff08\u540c\u6bd4\u589e\u957f48%\uff09\uff0c\u622a\u81f3\u6210\u7a3f\u65e5\uff082024\u5e74\uff09\u7684\u5e02\u503c\u4e3a5.42\u4ebf\u6e2f\u5143\u3002\u4ebf\u5eb7\u533b\u5b66\u65d7\u4e0b\u7684\u4e0a\u6d77\u5e8f\u5eb7\u57fa\u56e0\u79d1\u6280\u80a1\u4efd\u6709\u9650\u516c\u53f8\u4e8e2023\u5e7411\u6708\u5728\u4e0a\u6d77\u8bc1\u76d1\u5c40\u8fdb\u884c\u4e0a\u5e02\u8f85\u5bfc\u5907\u6848\uff08\u622a\u81f32023\u5e745\u6708\u5b8c\u6210D+\u8f6e\u878d\u8d44\uff09\u3002\u00a0<\/p>\n<p>2021\u5e74\u8d77\uff0c\u80da\u80ce\u690d\u5165\u524d\u9057\u4f20\u5b66\u68c0\u6d4b\u9886\u57df\u53d1\u751f\u6570\u8d77\u6536\u8d2d\u5e76\u5e26\u52a8\u76f8\u5173\u4e1a\u52a1\u3002\u4f8b\u5982\uff0c2021\u5e74\u751f\u80b2\u6cbb\u7597\u6280\u672f\u516c\u53f8Vitrolife\u6536\u8d2d\u80da\u80ce\u690d\u5165\u524d\u9057\u4f20\u5b66\u68c0\u6d4b\u516c\u53f8Igenomix\u5e76\u62c9\u52a865%\u7684\u8425\u6536\u589e\u957f\uff1b2021\u5e74\u8d1d\u5eb7\u533b\u7597\u6536\u8d2d\u7537\u79d1IVD\u516c\u53f8\u661f\u535a\u751f\u7269\uff1b2022\u5e74\u7f8e\u56fd\u5973\u6027\u5065\u5eb7\u670d\u52a1\u516c\u53f8Kindbody\u6536\u8d2d\u57fa\u56e0\u7ec4\u5b66\u516c\u53f8Phosphorus Labs \uff0c\u5f00\u5c55\u80da\u80ce\u690d\u5165\u524d\u9057\u4f20\u5b66\u68c0\u6d4b\u548c\u6269\u5c55\u643a\u5e26\u8005\u7b5b\u67e5\u4e1a\u52a1\u3002\u00a0<\/p>\n<p>\u6211\u56fd2023\u5e74\u51fa\u751f\u4eba\u53e3902\u4e07\u4eba\uff0c\u603b\u548c\u751f\u80b2\u7387\u7ea6\u4e3a1.0\uff0c\u4e0d\u5b55\u4e0d\u80b2\u738710%\u3002\u630930%\u7684\u6e17\u900f\u7387\u4f30\u7b97\uff0c\u57fa\u56e0\u4ea7\u4e1a\u54a8\u8be2\u673a\u6784\u57fa\u56e0\u6167\u9884\u4f30\uff0c\u6211\u56fd\u80da\u80ce\u690d\u5165\u524d\u9057\u4f20\u5b66\u68c0\u6d4b\u5e02\u573a\u89c4\u6a21\u7ea6\u4e3a24.35\u4ebf\u5143\u3002\u00a0<\/p>\n<p>\u5728\u91cd\u5927\u653f\u7b56\u7ea2\u5229\u4ee5\u53ca\u5e02\u573a\u521a\u9700\u4e0b\uff0c\u80da\u80ce\u690d\u5165\u524d\u9057\u4f20\u5b66\u68c0\u6d4b\u4ea7\u4e1a\u5448\u73b0\u8f83\u5feb\u589e\u957f\uff0c\u4e14\u76f8\u5bf9\u5176\u4ed6\u8d5b\u9053\u540c\u8d28\u5316\u7a0b\u5ea6\u8f83\u4f4e\u3002\u5728\u53d1\u5c55\u7b56\u7565\u4e0a\uff0c\u6a2a\u5411\u5c42\u9762\u4e0d\u65ad\u62d3\u5c55\u667a\u80fd\u6db2\u6c2e\u7f50\u3001\u8d85\u4f4e\u6e29\u5b58\u50a8\u8bbe\u5907\u3001\u80da\u80ce\u57f9 \u517b\u7bb1\u4e0e\u57f9\u517b\u6db2\u7b49\u4ea7\u54c1\u8017\u6750\uff0c\u6784\u5efa\u8f85\u52a9\u751f\u6b96\u9886\u57df\u7684\u66f4\u5168\u4ea7\u54c1\u7ec4\u5408\uff1b\u5728\u7eb5\u5411\u5c42\u9762\uff0c\u7ed3\u5408\u5355\u7ec6\u80de\u6d4b\u5e8f\u3001\u5355\u5206\u5b50\u6d4b\u5e8f\u7b49\u6280\u672f\u4f53\u73b0\u66f4\u9ad8\u5206\u8fa8\u7387\u3001\u66f4\u7cbe\u51c6\u7684\u4ea7\u54c1\u8d28\u91cf\u3002\u540c\u65f6\uff0cPGT\u4ecd\u5728\u521d\u6b65\u9636\u6bb5\uff08\u56fd\u5185\u53d1\u5c55\u4e0d\u5230\u5341\u5e74\uff09\uff0c\u9700\u8981\u8fdb\u4e00\u6b65\u5bf9\u6280\u672f\u8fdb\u884c\u4f18\u5316\uff08\u4f8b\u5982\u63d0\u9ad8\u9762\u5bf9\u80da\u80ce\u524d\u5408\u4f53\u7b49\u60c5\u51b5\u7684\u68c0\u6d4b\u51c6\u786e\u6027\uff09\uff0c\u589e\u52a0\u66f4\u591a\u7684\u4e34\u5e8a\u7814\u7a76\uff0c\u8fdb\u4e00\u6b65\u89c4\u8303\u5e76\u51c6\u5165\u66f4\u591a\u53ef\u4ee5\u5f00\u5c55\u4e09\u4ee3\u8bd5\u7ba1\u5a74\u513f\u7684\u673a\u6784\u3002\u00a0<\/p>\n<p>\u5728\u80da\u80ce\u690d\u5165\u524d\u9057\u4f20\u5b66\u68c0\u6d4b\u9886\u57df\uff0c\u672a\u6765\u5efa\u8bae\u5173\u6ce8\u4ee5\u4e0b\u65b9\u9762\u3002<\/p>\n<p>\u6280\u672f\u5c42\u9762\uff1a\u57f9\u80b2\u5355\u7ec6\u80de\u3001\u5355\u5206\u5b50\u6d4b\u5e8f\uff08\u4fd7\u79f0\u4e09\u4ee3\u6d4b\u5e8f\uff09\u7b49\u6280\u672f\u5f00\u53d1\u65b0\u5174\u5e94\u7528\u30022023\u5e7410\u6708\uff0c\u6d59\u6c5f\u7701\u9996\u4f8b\u5e94\u7528\u4e09\u4ee3\u6d4b\u5e8f\u6280\u672f\u7684\u5355\u57fa\u56e0\u75c5\u80da\u80ce\u690d\u5165\u524d\u9057\u4f20\u8bca\u65ad\u6280\u672f\u7684\u8bd5\u7ba1\u5a74\u513f\u5b9d\u5b9d\u5728\u90b5\u9038\u592b\u533b\u9662\u4ea7\u79d1\u5065\u5eb7\u51fa\u751f\uff1b2024\u5e745\u6708\uff0c\u4e2d\u5c71\u5927\u5b66\u9644\u5c5e\u7b2c\u4e00\u533b\u9662\u751f\u6b96\u533b\u5b66\u4e2d\u5fc3\u5e94\u7528\u7eb3\u7c73\u5b54\u6d4b\u5e8fPGT\u6280\u672f\u6210\u529f\u963b\u65ad1\u4f8b\u65b0\u53d1\u5d4c\u5408\u9762\u80a9\u80b1\u578b\u808c\u8425\u517b\u4e0d\u826f\u75c7\uff08FSHD\uff09\u9057\u4f20\uff0c\u5e2e\u52a9\u4e00\u4f4d\u5b55\u5987\u987a\u5229\u4ea7\u4e0b\u4e00\u540d\u5065\u5eb7\u5b9d\u5b9d\u3002\u00a0<\/p>\n<p>\u6a21\u5f0f\u5c42\u9762\uff1a\u901a\u8fc7\u5171\u8bc6\u3001\u6807\u51c6\u53ca\u6307\u5357\u7684\u5f62\u6210\u6765\u52a0\u901f\u66f4\u591a\u7684\u4ea7\u54c1\u8fdb\u5165\u4e34\u5e8a\uff1b\u540c\u65f6\uff0c\u52a0\u5927PGT\u6280\u672f\u4f01\u4e1a\u4e0e\u4f20\u7edf\u8f85\u52a9\u751f\u6b96\u7684\u878d\u5408\u3002\u00a0<\/p>\n<p>\u5236\u5ea6\u5c42\u9762\uff1a\u6269\u5927\u66f4\u591a\u7684\u53ef\u4ee5\u63d0\u4f9bPGT\u7684\u8f85\u52a9\u751f\u6b96\u4e2d\u5fc3\uff0c\u670d\u52a1\u4e8e\u66f4\u591a\u5bb6\u5ead\u548c\u5730\u533a\u3002<\/p>\n<p>&nbsp;<\/p>\n<p>\u56db\u3001\u65e0\u521b\u4ea7\u524d\u57fa\u56e0\u68c0\u6d4b<\/p>\n<p>\uff08\u4e00\uff09\u9700\u6c42<\/p>\n<p>\u4f20\u7edf\u7684\u4ea7\u524d\u9057\u4f20\u68c0\u6d4b\u65b9\u6cd5\u4e3b\u8981\u662f\u8840\u6e05\u86cb\u767d\u7b5b\u67e5\u4ee5\u53ca\u4fb5\u5165\u6027\u53d6\u6837 (\u5982\u7f8a\u6c34\u7a7f\u523a)\u6765\u8fdb\u884c\u6838\u578b\u5206\u6790\u7b49\uff0c\u5b58\u5728\u51c6\u786e\u7387\u4e0d\u9ad8\u6216\u8005\u611f\u67d3\/\u6d41\u4ea7\u98ce\u9669\uff0c\u800c\u4e14\u9700\u8981\u533b\u52a1\u4eba\u5458\u5177\u5907\u76f8\u5f53\u7684\u4e13\u4e1a\u6027\u3002\u5728\u6211\u56fd\uff0c\u52a0\u5f3a\u51fa\u751f\u7f3a\u9677\u9632\u6cbb\u662f\u4eba\u53e3\u9ad8\u8d28\u91cf\u53d1\u5c55\u7684\u91cd\u8981\u65b9\u5f0f\uff0c\u800c\u63a8\u5e7f\u4ea7\u524d\u7b5b\u67e5\u548c\u8bca\u65ad\u662f\u6709\u6548\u63a7\u5236\u51fa\u751f\u7f3a\u9677\u7684\u624b\u6bb5\u3002\u300a\u5065\u5eb7\u4e2d\u56fd\u884c\u52a8(2019-2030 \u5e74)\u300b\u63d0\u51fa\u5230 2030 \u5e74\u4ea7\u524d\u7b5b\u67e5\u7387\u8981\u8fbe\u5230 80% \u53ca\u4ee5\u4e0a\u3002\u00a0<\/p>\n<p>\u76f8\u5bf9\u4f20\u7edf\u4ea7\u524d\u9057\u4f20\u68c0\u6d4b\u65b9\u6cd5\uff0cNIPT\u65e0\u521b\u3001\u64cd\u4f5c\u7b80\u5355\uff08\u9759\u8109\u91c7\u8840\uff09\u3001\u51c6\u786e\u6027\u9ad8\uff08\u654f\u611f\u6027\u226593%\uff0c\u7279\u5f02\u6027\u226599%\uff09\uff0c\u6709\u6548\u964d\u4f4e\u7f8a\u6c34\u7a7f\u523a\u7b49\u9ad8\u98ce\u9669\u4fb5\u5165\u578b\u68c0\u67e5\u7387\uff0c\u63a7\u5236\u51fa\u751f\u7f3a\u9677\u3002\u57fa\u4e8eNIPT\u7684\u4ea7\u524d\u68c0\u6d4b\u65b9\u6cd5\u5728\u5168\u7403\u7279\u522b\u662f\u533b\u52a1\u4eba\u5458\u532e\u4e4f\u7684\u53d1\u5c55\u4e2d\u56fd\u5bb6\u5f97\u5230\u666e\u53ca\uff0c\u5e94\u7528\u4e8e\u767e\u4e07\u91cf\u7ea7\u7684\u6c11\u751f\u9879\u76ee\u3002<\/p>\n<p>\uff08\u4e8c\uff09\u5b9a\u4e49<\/p>\n<p>\u65e0\u521b\u4ea7\u524d\u57fa\u56e0\u68c0\u6d4b\u662f\u751f\u80b2\u5065\u5eb7\u9886\u57df\u76ee\u524d\u6700\u6210\u719f\u3001\u89c4\u6a21\u5316\u5e94\u7528\u7684\u4e34\u5e8a\u57fa\u56e0\u68c0\u6d4b\u4ea7\u54c1\u4e4b\u4e00\uff0c\u662f\u57fa\u56e0\u6280\u672f\u4ea7\u4e1a\u5316\u5e76\u5e94\u7528\u6c11\u751f\u7684\u5178\u8303\uff0c\u5176\u53d1\u5c55\u6a21\u5f0f\u7814\u7a76\u5bf9\u4e8e\u751f\u7269\u6280\u672f\u8f6c\u5316\u5177\u6709\u91cd\u8981\u7684\u53c2\u8003\u4ef7\u503c\u3002\u00a0<\/p>\n<p>\u65e0\u521b\u4ea7\u524d\u57fa\u56e0\u68c0\u6d4b\u662f\u5206\u6790\u80ce\u513f\u67d3\u8272\u4f53\u975e\u6574\u500d\u4f53\u75be\u75c5\u7684\u65e0\u521bDNA\u68c0\u6d4b\u6280\u672f\uff0c\u5373NIPT\uff08Non-invasive Prenatal Testing\uff09,\u76ee\u524d\u4e3b\u8981\u9488\u5bf921-\u4e09\u4f53\u7efc\u5408\u5f81\uff08\u5510\u6c0f\u7efc\u5408\u5f81\uff09\u300118-\u4e09\u4f53\u7efc\u5408\u5f81\uff08\u7231\u5fb7\u534e\u6c0f\u7efc\u5408\u5f81\uff09\u548c13-\u4e09\u4f53\u7efc\u5408\u5f81\uff08\u5e15\u9676\u6c0f\u7efc\u5408\u5f81\uff09\u3002NIPT\u4e5f\u88ab\u79f0\u4e3aNIPS\uff08Non-invasive Prenatal Screening\uff09\uff0c\u63d0\u793a\u8fd9\u662f\u4e00\u9879\u7b5b\u67e5\u6280\u672f\uff08\u975e\u8bca\u65ad\uff09\u3002<\/p>\n<p>\u968f\u7740\u4e34\u5e8a\u9700\u6c42\u6269\u5927\u4ee5\u53ca\u6280\u672f\u8fed\u4ee3\uff0c\u65e0\u521b\u4ea7\u524d\u57fa\u56e0\u68c0\u6d4b\u6269\u5c55\u5230NIPT\u00a0Plus\uff08\u68c0\u6d4b\u5176\u4ed6\u67d3\u8272\u4f53\u6570\u76ee\u5f02\u5e38\u4ee5\u53ca\u67d3\u8272\u4f53\u5fae\u7f3a\u5931\/\u5fae\u91cd\u590d\u7efc\u5408\u5f81\uff09\u3001WES\uff08\u5168\u5916\u663e\u5b50\u7ec4\u6d4b\u5e8f\uff09\u7b49\u3002\u4ee5\u4e0b\u4ee5NIPT\u4e3a\u4e3b\u8fdb\u884c\u9610\u8ff0\u3002<\/p>\n<p>\uff08\u4e09\uff09\u5e94\u7528<\/p>\n<p>NIPT\u4f5c\u4e3a\u5168\u7403\u5e94\u7528\u6700\u5e7f\u7684\u57fa\u56e0\u68c0\u6d4b\u6280\u672f\u548c\u4e34\u5e8a\u5e94\u7528\u73b0\u8c61\u7ea7\u4ea7\u54c1\uff0c\u5176\u53d1\u73b0\u3001\u53d1\u5c55\u548c\u6210\u719f\u7ecf\u5386\u4e86\u7ea620\u5e74\u3002\u00a0<\/p>\n<p>\u6700\u65e9\u7684\u79d1\u5b66\u53d1\u73b0\uff0c\u6765\u81ea1997\u5e74\u9999\u6e2f\u4e2d\u6587\u5927\u5b66\u5362\u715c\u660e\uff08Dennis Lo\uff09\u6559\u6388\u53d1\u73b0\u5b55\u5987\u5916\u5468\u8840\u5faa\u73af\u4e2d\u5b58\u5728\u80ce\u513f\u6e38\u79bbDNA\uff1b2008\u5e74\u5362\u715c\u660e\u6559\u6388\u548c\u65af\u5766\u798f\u5927\u5b66\u7684Stephen R. Quake\u6559\u6388\u540c\u671f\u5206\u522b\u72ec\u7acb\u8fdb\u884c\u4e86\u6280\u672f\u9a8c\u8bc1\uff1bNIPT\u7684\u65e9\u671f\u4e34\u5e8a\u5b9e\u8df5\u57282011\u5e74\u52302014\u5e74\u7387\u5148\u5728\u4e2d\u56fd\u3001\u82f1\u56fd\u548c\u8377\u5170\u90e8\u5206\u5730\u533a\u8fdb\u884c\uff0c\u521d\u59cb\u9636\u6bb5\u7531\u4e8e\u7f3a\u4e4f\u89c4\u8303\u548c\u76d1\u7763\u51fa\u73b0\u4e86\u4e00\u4e9b\u4e89\u8bae\uff1b2014\u5e74\u521d\uff0c\u4e2d\u56fd\u98df\u54c1\u836f\u54c1\u76d1\u7763\u7ba1\u7406\uff08CFDA\uff09\u89c4\u5b9a\u4e34\u5e8aDNA\u6d4b\u5e8f\u7684\u5668\u68b0\u548c\u8bd5\u5242\u5fc5\u987b\u5728CFDA\u6ce8\u518c\uff0c\u5e76\u7ecf\u539f\u56fd\u5bb6\u536b\u751f\u548c\u8ba1\u5212\u751f\u80b2\u59d4\u5458\u4f1a\u6279\u51c6\uff1b2014\u5e74\u672b\uff0cCFDA\u53d1\u5e03\u9996\u5f20NIPT\u6ce8\u518c\u8bc1\uff1b2015\u5e74\u539f\u56fd\u5bb6\u536b\u8ba1\u59d4\u5ba1\u6279\u901a\u8fc7\u4e86\u5168\u56fd108\u5bb6\u533b\u9662\u53ef\u4ee5\u5f00\u5c55NIPT\u7684\u4e34\u5e8a\u8bd5\u70b9\uff1b2016\u5e74\u539f\u56fd\u5bb6\u536b\u8ba1\u59d4\u53d1\u5e03\u300a\u5173\u4e8e\u89c4\u8303\u6709\u5e8f\u5f00\u5c55\u5b55\u5987\u5916\u5468\u8840\u80ce\u513f\u6e38\u79bbDNA\u4ea7\u524d\u7b5b\u67e5\u4e0e\u8bca\u65ad\u5de5\u4f5c\u7684\u901a\u77e5\u300b\uff0c\u6807\u5fd7\u7740\u4e34\u5e8aNIPT\u5e94\u7528\u7684\u6b63\u5f0f\u5f00\u5c55\u3002\u00a0<\/p>\n<p>\u5728\u5e94\u7528\u8303\u56f4\u4e0a\uff0cNIPT\u76ee\u524d\u4ee5\u53d1\u75c5\u7387\u8f83\u9ad8\u768421-\u4e09\u4f53\u7efc\u5408\u5f81\uff08\u5510\u6c0f\u7efc\u5408\u5f81\uff09\u300118-\u4e09\u4f53\u7efc\u5408\u5f81\uff08\u7231\u5fb7\u534e\u6c0f\u7efc\u5408\u5f81\uff09\u4ee5\u53ca 13-\u4e09\u4f53\u7efc\u5408\u5f81\uff08\u5e15\u9676\u6c0f\u7efc\u5408\u5f81\uff09\u4e3a\u4e3b\uff0c\u6b63\u9010\u6b65\u6269\u5c55\u5230\u5176\u4ed6\u67d3\u8272\u4f53\u6570\u76ee\u5f02\u5e38\u4ee5\u53ca\u67d3\u8272\u4f53\u5fae\u7f3a\u5931\/\u5fae\u91cd\u590d\u7efc\u5408\u5f81\uff08NIPT Plus\uff09\uff0c\u672a\u6765\u6709\u5b55\u671f\u80bf\u7624\u3001\u598a\u5a20\u5e76\u53d1\u75c7\u7b49\u540c\u6b65\u7efc\u5408\u68c0\u6d4b\u7684\u6f5c\u5728\u5e94\u7528\u4ef7\u503c\u3002\u00a0<\/p>\n<p>\u76ee\u524dNIPT\u5728\u5168\u4e16\u754c\u81f3\u5c11\u8d85\u8fc760\u4e2a\u56fd\u5bb6\u5f97\u5230\u63a8\u5e7f\uff0c\u4ec5\u57282019\u5e74\u6bd4\u5229\u65f6\u7684NIPT\u4f7f\u7528\u7387\u4e3a79%\uff0c\u8377\u5170\u4e3a46%\uff0c\u7f8e\u56fd20-50%\u3002\u57fa\u56e0\u6167\u9884\u4f30\u6211\u56fd\u5df2\u8986\u76d6\u8d85\u8fc74000\u4e07\u4eba\u3002\u00a0<\/p>\n<p>\u7531\u4e8e\u91cd\u5927\u7684\u533b\u5b66\u4ef7\u503c\u548c\u793e\u4f1a\u6548\u76ca\uff0cNIPT\u6b63\u4ece\u4e2a\u4eba\u652f\u4ed8\u9010\u6e10\u53d1\u5c55\u5230\u533b\u7597\u4fdd\u9669\u8986\u76d6\uff0c\u90e8\u5206\u5730\u533a\u8bd5\u70b9\u514d\u8d39\u6a21\u5f0f\u30022015\u5e74\uff0c\u745e\u58eb\u8054\u90a6\u6c11\u653f\u90e8\u95e8\u5ba3\u5e03\u5c06\u4e3a\u6709\u9ad8\u5371\u67d3\u8272\u4f53\u5f02\u5e38\u98ce\u9669\u7684\u5b55\u5987\u63d0\u4f9b\u5f3a\u5236\u6027\u533b\u7597\u4fdd\u9669\uff08OKP\uff09\u5e76\u514d\u8d39\u63d0\u4f9bNIPT \uff1b2021 \u5e74\uff0c\u7f8e\u56fd\u5c06\u5177\u5907\u5e73\u5747\u98ce\u9669\u7684\u5b55\u5987\u7684 NIPT \u7eb3\u5165\u7f8e\u56fd\u8054\u5408\u5065\u5eb7\u4fdd\u9669(UHC)\u3002\u6211\u56fdNIPT\u8d39\u7528\u7ea6\u4e3a300-2400\u5143\uff0c\u4e2d\u4f4d\u6570\u7ea6\u4e3a1500\u5143\/\u6b21\uff1b\u5176\u4e2d\uff0c300\u5143\u4e3a\u5e7f\u5dde\u5730\u533a\u5c06NIPT\u7eb3\u51652024\u5e74\u60e0\u6c11\u8bd5\u70b9\u9879\u76ee\u7684\u4f18\u60e0\u4ef7\u683c\u3002\u6df1\u5733\u57282013 \u5e74\u7387\u5148\u5728\u6211\u56fd\u5c06 NIPT\u7eb3\u5165\u533b\u4fdd\uff0c\u81ea2021\u5e74\u8d77NIPT\u533b\u4fdd\u533a\u57df\u6269\u5927\u523010\u4f59\u4e2a\u7701\u5e02\u533a\u57df\uff0c\u6df1\u5733\u3001\u6b66\u6c49\u3001\u5929\u6d25\u3001\u5927\u8fde\u7b49\u5730\u8bd5\u70b9\u5411\u7b26\u5408\u6761\u4ef6\u7684\u5b55\u5987\u514d\u8d39\u63d0\u4f9bNIPT\u3002\u6cb3\u5317\u7701\u4e8e2019\u5e74\u5728\u5168\u56fd\u7387\u5148\u5f00\u5c55\u5168\u7701\u5b55\u5987\u65e0\u521b\u4ea7\u524d\u57fa\u56e0\u7b5b\u67e5\u60e0\u6c11\u9879\u76ee\uff0c\u81ea\u9879\u76ee\u542f\u52a8\u81f32024\u5e744\u67081\u65e5\uff0c\u7d2f\u8ba1\u7b5b\u67e5\u5b55\u5987188.8\u4e07\u4eba\u6b21\uff0c\u901a\u8fc7\u5728\u5b55\u671f\u53ca\u65f6\u5bf9\u5510\u6c0f\u7efc\u5408\u5f81\u548c\u542c\u529b\u969c\u788d\u7b49\u8fdb\u884c\u7b5b\u67e5\u3001\u8bca\u65ad\u548c\u5e72\u9884\uff0c\u6709\u6548\u51cf\u5c114000\u4f59\u4f8b\u51fa\u751f\u7f3a\u9677\u60a3\u513f\u51fa\u751f\u30022024\u5e747\u6708\uff0c\u6c5f\u82cf\u7701\u53d1\u5e03\u5bf9NIPT\u8fdb\u884c\u5e26\u91cf\u91c7\u8d2d\u7684\u5f81\u6c42\u610f\u89c1\u7a3f\u3002<\/p>\n<p>&nbsp;<\/p>\n<p>NIPT\u53d1\u5c55\u7684\u91cc\u7a0b\u7891<\/p>\n<p>1997 \u5e74\uff0c\u9999\u6e2f\u4e2d\u6587\u5927\u5b66\u5362\u715c\u660e\uff08Dennis Lo\uff09\u56e2\u961f\u901a\u8fc7\u6000\u6709\u7537\u6027\u80ce\u513f\u7684\u5b55\u5987\u5916\u5468\u8840\u8840\u6d46Y\u67d3\u8272\u4f53PCR\u6269\u589e\u7684\u65b9\u6cd5\u8bc1\u660e\u4e86\u5b55\u5987\u5916\u5468\u8840\u5faa\u73af\u4e2d\u5b58\u5728\u80ce\u513f\u6e38\u79bbDNA\u3002<\/p>\n<p>2008\u5e74\uff0c\u5362\u715c\u660e\u6559\u6388\u56e2\u961f\u5728\u56fd\u9645\u77e5\u540d\u671f\u520aPNAS\u4e0a\u53d1\u5e03\u6587\u7ae0\uff0c\u57fa\u4e8e\u5927\u89c4\u6a21\u5e73\u884c\u6d4b\u5e8f\u6280\u672f\u68c0\u6d4b\u6bcd\u4f53\u8840\u6d46DNA\u5e8f\u5217\u6765\u53d1\u73b0\u80ce\u513f21-\u4e09\u4f53\u7efc\u5408\u5f81\uff08doi.org\/10.1073\/pnas.0810641105\uff09\uff1b\u65af\u5766\u798f\u5927\u5b66\u7684Stephen R. Quake\u6559\u6388\u540c\u671f\u5728PNAS\u53d1\u5e03\u4e86\u7c7b\u4f3c\u6210\u679c\uff0c\u57fa\u4e8e\u9ad8\u901a\u91cf\u6d4b\u5e8f\u6210\u529f\u9274\u5b9a21-\u4e09\u4f53\u7efc\u5408\u5f81\u300118-\u4e09\u4f53\u7efc\u5408\u5f81\u4ee5\u53ca 13-\u4e09\u4f53\u7efc\u5408\u5f81\uff08doi.org\/10.1073\/pnas.0808319105\uff09\u3002<\/p>\n<p>2011\u5e74\uff0c\u5362\u715c\u660e\u6559\u6388\u56e2\u961f\u5f00\u5c55\u9996\u4e2a\u5927\u89c4\u6a21\u4e34\u5e8a\u7814\u7a76\uff0c\u901a\u8fc7\u5bf9753 \u540d\u80ce\u513f21-\u4e09\u4f53\u9ad8\u5371\u5b55\u5987\u8fdb\u884c\u6838\u578b\u5206\u6790\u548cNIPT(2-plex\u6d4b\u5e8f\uff0cz\u8bc4\u5206\u4e3a&gt;3)\uff0c\u5728\u9999\u6e2f\u3001\u82f1\u56fd\u548c\u8377\u5170\u8fdb\u884c\u4ea7\u524d\u8bca\u65ad\uff0c\u53d1\u73b0NIPT\u68c0\u6d4b21 \u4e09\u4f53\u80ce\u513f\u7684\u7075\u654f\u5ea6\u4e3a 100%\uff0c\u7279\u5f02\u6027\u4e3a 97.9%\uff0c\u9633\u6027\u9884\u6d4b\u503c\u4e3a 96.6%\uff0c\u907f\u514d\u7ea698%\u7684\u4fb5\u5165\u6027\u8bca\u65ad\uff08doi.org\/ 10.1136\/bmj.c7401\uff09\u30023\u6708\uff0c\u6e56\u5357\u7701\u536b\u751f\u5385\u7387\u5148\u6279\u51c6\u4e86\u6e56\u5357\u5bb6\u8f89\u9057\u4f20\u4e13\u79d1\u533b\u9662NIPT\u4e34\u5e8a\u8bd5\u70b9\u7684\u51c6\u5165\u8bc1\uff1b8\u6708\uff0c\u9999\u6e2f\u5f00\u5c55\u9996\u4f8bNIPT\u4e34\u5e8a\u68c0\u6d4b\uff1b10\u6708\uff0c\u7f8e\u56fd\u5f15\u5165NIPT\u5546\u4e1a\u4ea7\u54c1\uff0c\u5e76\u8fc5\u5e94\u7528\u5230\u5168\u7403\u5176\u4ed6\u5730\u533a,\u52302014\u5e74\u8986\u76d6\u8d85\u8fc760\u4e2a\u56fd\u5bb6(doi\/10.2147\/IJWH.S67124)\u30022010-2014\u5e74\uff0c\u8d1d\u745e\u548c\u5eb7\u3001Sequenom\u3001 Verinata Health\u3001Ariosa Diagnostics\u3001Natera\u7b49\u4f01\u4e1a\u76f8\u7ee7\u6210\u7acb\uff0c\u534e\u5927\u3001Life Technologies\uff08\u540e\u5907Thermo Fisher\u6536\u8d2d\uff09\u3001Illumina\u3001Roche\u7b49\u5de8\u5934\u8fdb\u519bNIPT\u5e02\u573a\u3002<\/p>\n<p>2014\u5e742\u67089\u65e5\uff0c\u539fCFDA\u3001\u56fd\u5bb6\u536b\u8ba1\u59d4\u8054\u5408\u53d1\u5e03\u300a\u5173\u4e8e\u52a0\u5f3a\u4e34\u5e8a\u4f7f\u7528\u57fa\u56e0\u6d4b\u5e8f\u76f8\u5173\u4ea7\u54c1\u548c\u6280\u672f\u7ba1\u7406\u7684\u901a\u77e5\u300b\uff0c\u8981\u6c42NIPT\u7b49\u672a\u83b7\u51c6\u6ce8\u518c\u7684\u533b\u7597\u5668\u68b0\u4ea7\u54c1\u7acb\u5373\u505c\u6b62\uff1b3\u6708\uff0c\u539f\u56fd\u5bb6\u536b\u8ba1\u59d4\u53d1\u5e03\u300a\u5173\u4e8e\u5f00\u5c55\u9ad8\u901a\u91cf\u57fa\u56e0\u6d4b\u5e8f\u6280\u672f\u4e34\u5e8a\u5e94\u7528\u8bd5\u70b9\u5355\u4f4d\u7533\u62a5\u5de5\u4f5c\u7684\u901a\u77e5\u300b\uff1b6\u670830\u65e5\uff0c\u534e\u5927\u57fa\u56e0\u83b7\u5f97\u6211\u56fd\u9996\u4e2aNIPT\u4e34\u5e8a\u6ce8\u518c\u8bc1\uff0c\u4e5f\u662f\u9996\u4e2a\u9ad8\u901a\u91cf\u57fa\u56e0\u6d4b\u5e8f\u4e34\u5e8a\u8bca\u65ad\u4ea7\u54c1\u6ce8\u518c\u8bc1\uff1b\u5176\u540e\uff0c\u8fbe\u5b89\u57fa\u56e0\u3001\u535a\u5965\u751f\u7269\u3001\u8d1d\u745e\u57fa\u56e0\u7684NIPT\u4ea7\u54c1\u76f8\u7ee7\u83b7\u6279\u3002<\/p>\n<p>2015\u5e74\uff0c\u7ee7\u4e0a\u5e74\u5e95\u56fd\u5bb6\u536b\u8ba1\u59d4\u533b\u653f\u533b\u7ba1\u5c40\u53d1\u5e03\u300a\u5f00\u5c55\u9ad8\u901a\u91cf\u57fa\u56e0\u6d4b\u5e8f\u6280\u672f\u4e34\u5e8a\u5e94\u7528\u8bd5\u70b9\u5355\u4f4d\u5de5\u4f5c\u7684\u901a\u77e5\u300b\uff08\u6d89\u53ca\u9057\u4f20\u75c5\u8bca\u65ad\u3001NIPT\u3001PGS\uff0c\u5176\u4e2dNIPT\u9879\u76ee\u6279\u51c6\u7684\u5355\u4f4d\u5305\u62ec\u534e\u5927\u57fa\u56e0\u3001\u535a\u5965\u751f\u7269\u3001\u8fbe\u5b89\u57fa\u56e0\u3001\u5b89\u8bfa\u4f18\u8fbe\u3001\u7231\u666e\u76ca\u3001\u6e58\u96c5\u533b\u5b66\u68c0\u9a8c\u6240\u7b49\uff09\u3002\u539f\u56fd\u5bb6\u536b\u8ba1\u59d4\u5987\u5e7c\u53f8\u53d1\u5e03\u300a\u5173\u4e8e\u4ea7\u524d\u8bca\u65ad\u673a\u6784\u5f00\u5c55\u9ad8\u901a\u91cf\u57fa\u56e0\u6d4b\u5e8f\u4ea7\u524d\u7b5b\u67e5\u4e0e\u8bca\u65ad\u4e34\u5e8a\u5e94\u7528\u8bd5\u70b9\u5de5\u4f5c\u7684\u901a\u77e5\u300b\uff0c\u5ba1\u6279\u901a\u8fc7\u4e86\u5168\u56fd108\u5bb6\u533b\u9662\u53ef\u4ee5\u5f00\u5c55NIPT\u7684\u4e34\u5e8a\u8bd5\u70b9\u3002<\/p>\n<p>2016\u5e74\uff0c\u539f\u56fd\u5bb6\u536b\u751f\u8ba1\u751f\u59d4\u529e\u516c\u5385\u53d1\u5e03\u300a\u5173\u4e8e\u89c4\u8303\u6709\u5e8f\u5f00\u5c55\u5b55\u5987\u5916\u5468\u8840\u80ce\u513f\u6e38\u79bbDNA\u4ea7\u524d\u7b5b\u67e5\u4e0e\u8bca\u65ad\u5de5\u4f5c\u7684\u901a\u77e5\u300b\uff08\u56fd\u536b\u529e\u5987\u5e7c\u53d1[2016]45\u53f7\uff09\uff0c\u9644\u4ef6\u53d1\u5e03\u300a\u5b55\u5987\u5916\u5468\u8840\u80ce\u513f\u6e38\u79bbDNA\u4ea7\u524d\u7b5b\u67e5\u4e0e\u8bca\u65ad\u6280\u672f\u89c4\u8303\u300b\uff0c\u6807\u5fd7\u7740\u6b63\u5f0f\u6279\u51c6\u5728\u6211\u56fd\u8303\u56f4\u5185\u4e34\u5e8a\u4f7f\u7528NIPT\u3002<\/p>\n<p>2018\u5e74\uff0c\u65af\u5766\u798f\u5927\u5b66Stephen Quake\u5b9e\u9a8c\u5ba4\u53d1\u5e03\u6587\u7ae0\u79f0\uff0c\u901a\u8fc7\u6d4b\u91cf\u6bcd\u4f53\u7684\u6e38\u79bbRNA\uff08cfRNA\uff09 \u53ef\u4ee5\u5e2e\u52a9\u786e\u5b9a\u5206\u5a29\u4f55\u65f6\u53d1\u751f\uff08\u8bc6\u522b\u65e9\u4ea7\uff09\uff0c\u51c6\u786e\u6027\u4e0e\u8d85\u58f0\u76f8\u5f53\uff08doi\/10.1126\/science.aar3819\uff09\uff1b\u540c\u6837\u57fa\u4e8ecfRNA\uff0cStephen Quake\u56e2\u961f\u8ddf\u8e2a\u5b55\u671f RNA\u8868\u8fbe\u8c31\u7684\u53d8\u5316\uff0c\u53ef\u4ee5\u5728\u5b55 16 \u5468\u4e4b\u524d\u9884\u6d4b\u5b55\u5987\u60a3\u5148\u5146\u5b50\u75eb\u7684\u98ce\u9669\uff08doi\/10.1038\/s41586-022-04410-z\uff09\u3002\u57fa\u4e8e\u6b64\u6210\u679c\u6210\u7acb\u4e86Mirvie\u516c\u53f8\uff0c\u5e76\u83b7\u5f979000 \u4e07\u7f8e\u5143\u7684\u6295\u8d44\u3002<\/p>\n<p>2024\u5e741\u6708\uff0c\u9ec4\u8377\u51e4\u9662\u58eb\u56e2\u961f\u5728Nature Medicine\u4e0a\u53d1\u8868\u4e86\u65b0\u4e00\u4ee3\u4e09\u5408\u4e00\u65e0\u521b\u4ea7\u524d\u7b5b\u67e5\u7684\u591a\u4e2d\u5fc3\u524d\u77bb\u6027\u4e34\u5e8a\u7814\u7a76\u6210\u679c\uff0c\u901a\u8fc7\u5206\u6790\u591a\u4e2d\u5fc3\u524d\u77bb\u6027\u4e34\u5e8a\u7814\u7a76\u51711,090\u540d\u5165\u7ec4\u7684\u9ad8\u98ce\u9669\u5b55\u5987\u8840\u6d46\u4e2d\u7684\u6e38\u79bbDNA\uff0c\u5728\u4e34\u5e8a\u4e0a\u9996\u6b21\u8fd0\u7528\u65e0\u521b\u7684\u65b9\u6cd5\u5168\u9762\u7b5b\u67e5\u5305\u62ec\u5355\u57fa\u56e0\u75be\u75c5\u3001\u67d3\u8272\u4f53\u975e\u6574\u500d\u4f53\u548c\u67d3\u8272\u4f53\u5fae\u7f3a\u5931\u7efc\u5408\u5f81\u7b49\u4e0d\u540c\u7c7b\u578b\u7684\u80ce\u513f\u9057\u4f20\u53d8\u5f02\uff0c\u80ce\u513f\u9057\u4f20\u53d8\u5f02\u7684\u68c0\u51fa\u7387\u63d0\u9ad8\u4e8660.7%\uff08doi \/10.1038\/s41591-023-02774-x\uff09\u3002<\/p>\n<p>\uff08\u56db\uff09\u6280\u672f<\/p>\n<p>\u4ece\u539f\u7406\u4e0a\uff0cNIPT\u662f\u901a\u8fc7\u68c0\u6d4b\u6bcd\u4f53\u5916\u5468\u8840\u8840\u6d46\u7684\u80ce\u513f\u6e38\u79bb DNA(cfDNA)\uff0c\u5206\u6790\u80ce\u513f\u67d3\u8272\u4f53\u975e\u6574\u500d\u4f53\u75be\u75c5\u7684\u65e0\u521b DNA \u68c0\u6d4b\u6280\u672f\u3002\u76f8\u5bf9\u4f20\u7edf\u7684\u4ea7\u524dDNA\u68c0\u67e5\uff08\u5728\u751f\u5316\u548c\u8d85\u58f0\u7b49\u521d\u6b21\u598a\u5a20\u7b5b\u67e5\u53d1\u73b0\u80ce\u513f\u53d1\u80b2\u5f02\u5e38\u98ce\u9669\u540e\uff0c\u901a\u8fc7\u4fb5\u5165\u6027\u7f8a\u819c\u7a7f\u523a\u672f\u6216\u7ed2\u6bdb\u819c\u7ed2\u6bdb\u53d6\u6837\uff0c\u7136\u540e\u4f7f\u7528\u67d3\u8272\u4f53\u6838\u578b\u5206\u6790\u548c\u5fae\u9635\u5217\u8fdb\u884c\u8bca\u65ad\uff09\u3002\u00a0<\/p>\n<p>NIPT \u5e38\u7528\u7684\u68c0\u6d4b\u5e73\u53f0\u662f\u9ad8\u901a\u91cf\u57fa\u56e0\u6d4b\u5e8f\uff08NGS\uff09\u4ee5\u53ca\u5fae\u9635\u5217\u82af\u7247\uff08microarray\uff09\u3002\u5176\u4e2dNGS\u5e73\u53f0\u4e3b\u8981\u54c1\u724c\u5305\u62ec\u534e\u5927\u667a\u9020\u3001Illumina\u548cThermo Fisher\u3002\u5fae\u9635\u5217\u82af\u7247\u4ee3\u8868\u4f01\u4e1a\u5305\u62ec\u65e9\u671f\u4f01\u4e1aAriosa\u548cVerinata Health\u3002Ariosa\u57282014\u5e74\u88abRoche\u4ee56.25\u4ebf\u7f8e\u5143\u6536\u8d2d\uff0c\u540e\u4e0eVerinata\u53d1\u751f\u4e13\u5229\u8bc9\u8bbc\uff0c2021\u5e74\u88abRoche\u51fa\u552e\u7ed9BioReference\uff1bVerinata\u57282013\u5e74\u88abIllumina\u4ee53.5\u4ebf\u7f8e\u5143\u6536\u8d2d\u3002<\/p>\n<p>\u503c\u5f97\u5173\u6ce8\u7684\u662f\uff0cNIPT\u53d6\u6837\u7684\u6e38\u79bbDNA\u662f\u5c0f\u7247\u6bb5\uff0c\u5728\u6ee1\u8db3\u68c0\u6d4b\u67d3\u8272\u4f53\u975e\u6574\u500d\u4f53\u7684\u540c\u65f6\u76ee\u524d\u4e0d\u80fd\u6709\u6548\u68c0\u6d4bCNV\uff08\u62f7\u8d1d\u6570\u53d8\u5f02\uff09\uff0c\u4e0e\u4e4b\u5bf9\u5e94\u7684\u4e92\u8865\u89e3\u51b3\u65b9\u6848\u662fCNV-Seq\uff08\u4f4e\u6df1\u5ea6\u5168\u57fa\u56e0\u7ec4\u6d4b\u5e8f\uff09\u30022014\u5e741-3\u6708\uff0c\u9996\u6279\u57fa\u4e8eNGS\u7684\u4ea7\u524dCNV-seq\u4ea7\u54c1\uff08\u6765\u81ea\u5b89\u8bfa\u4f18\u8fbe\u3001\u534e\u5927\u57fa\u56e0\u3001\u8d1d\u745e\u57fa\u56e0\uff09\u83b7\u5f97\u4e34\u5e8a\u6ce8\u518c\u8bc1\u3002\u53ef\u4ee5\u68c0\u6d4b\u5b55\u5987\u7f8a\u6c34\u6837\u672c\u4e2d\u768413\u300118\u300121\u3001X\u548cY\u67d3\u8272\u4f53\u975e\u6574\u500d\u4f53\u53ca\u67d3\u8272\u4f53\u5fae\u7f3a\u5931\uff1b4\u6708\uff0c\u9996\u6b3e\u57fa\u4e8emicroarray\u7684\u67d3\u8272\u4f53\u62f7\u8d1d\u6570\u53d8\u5f02\u68c0\u6d4b\u8bd5\u5242\u76d2\uff08\u535a\u5723\u667a\u9020\uff09\u6b63\u5f0f\u83b7\u6279\uff0c\u5177\u6709\u7c7b\u4f3c\u9002\u7528\u8303\u56f4\u3002\u8fdb\u4e00\u6b65\u4e30\u5bcc\u4e86\u4ea7\u524d\u8bca\u65ad\u7684\u57fa\u56e0\u6280\u672f\u65b9\u6848\u3002\u00a0<\/p>\n<p>\u5728\u4ea7\u54c1\u65b9\u9762\uff0c\u6269\u5c55\u5230\u5176\u4ed6\u67d3\u8272\u4f53\u6570\u76ee\u5f02\u5e38\u4ee5\u53ca\u67d3\u8272\u4f53\u5fae\u7f3a\u5931\/\u5fae\u91cd\u590d\u7efc\u5408\u5f81\u7684NIPT Plus\u76ee\u524d\u6b63\u5728\u4e34\u5e8a\u6ce8\u518c\u4fdd\u8bc1\u8fc7\u7a0b\u4e2d\u3002\u540c\u65f6\uff0c\u76ee\u524d\u6ca1\u6709NIPT Plus\u76f8\u5173\u5171\u8bc6\u53ca\u89c4\u8303\u51fa\u53f0\uff0c\u4e34\u5e8a\u5f00\u5c55\u9700\u8981\u8003\u8651\u8bf8\u591a\u56e0\u7d20\uff0c\u6b63\u5f0f\u5f15\u5165NIPS\u00a0Plus\u9700\u8981\u4e34\u5e8a\u5927\u6837\u672c\u961f\u5217\u7684\u9a8c\u8bc1\uff0c\u57fa\u56e0\u6167\u9884\u8ba1\u9700\u89811-3\u5e74\u3002<\/p>\n<p>\uff08\u4e94\uff09\u4ea7\u4e1a<\/p>\n<p>NIPT \u9886\u57df\u7684\u56fd\u5185\u4ee3\u8868\u4f01\u4e1a\u5305\u62ec\u534e\u5927\u57fa\u56e0\u3001\u8d1d\u745e\u57fa\u56e0\u3001\u8fbe\u5b89\u57fa\u56e0\u3001\u535a\u5965\u751f\u7269\u3001\u5b89\u8bfa\u4f18\u8fbe\u3001\u535a\u5723\u751f\u7269\u3001\u4f18\u8fc5\u533b\u5b66\u3001\u51e1\u8fea\u533b\u5b66\u7b49\uff1b\u56fd\u5916\u4ee3\u8868\u4f01\u4e1a\u5305\u62ec Natera\uff08\u6536\u8d2dInvitae\u7684\u751f\u80b2\u5065\u5eb7\u4e1a\u52a1\uff09\u3001Illumina\uff08\u6536\u8d2dVerinata\uff09\u3001Sequenom (2016\u5e74\u88abLabCorp\u4ee53.71\u4ebf\u7f8e\u5143\u6536\u8d2d)\u3001LifeCodexx\uff082017\u5e74\u88abEurofins\u6536\u8d2d\uff09\u3001Vanadis Diagnostics\uff082016\u5e74\u88abPerkinElmer \u6536\u8d2d\uff09\u3001Premaitha\u7b49\u3002\u00a0<\/p>\n<p>\u56fd\u5185\uff0cNIPT\u5e02\u573a\u96c6\u4e2d\u5728\u5be1\u5934\u4f01\u4e1a\uff0c\u4ee5\u653f\u5e9c\u4e3b\u5bfc\u3001\u533b\u9662\u548c\u4f01\u4e1a\u6280\u672f\u53c2\u4e0e\u7684\u6c11\u751f\u9879\u76ee\u5f62\u5f0f\u5f00\u5c55\uff0c\u76ee\u524d\u4ec5\u8986\u76d6\u4e2a\u522b\u7684\u7701\u4efd\u548c\u5c11\u91cf\u5e02\uff0c\u4e3b\u8981\u4ee5\u533a\u4e3a\u5355\u4f4d\u5f00\u5c55\u3002<\/p>\n<p>\u622a\u81f3\u6210\u7a3f\u65e5\uff082024\u5e74\uff09\uff0c\u56fd\u5185NIPT\u4ee3\u8868\u4f01\u4e1a\u534e\u5927\u57fa\u56e0\u7684\u5e02\u503c\u4e3a159.90\u4ebf\u5143\uff0c\u6839\u636e\u516c\u5f00\u76842023\u5e74\u5ea6\u62a5\u544a\u663e\u793a\uff0c2023\u5e74\u603b\u8425\u653643.50\u4ebf\u5143\uff08\u540c\u6bd4\u4e0b\u964d38.33%\uff09\uff0c\u751f\u80b2\u5065\u5eb7\u8425\u653611.78\u4ebf\u5143\uff08\u540c\u6bd4\u589e\u957f5.55%\uff09\uff0c\u5176\u4e2d\u65e0\u521b\u4ea7\u524d\u68c0\u6d4b\u4e1a\u52a1\u4fdd\u6301\u5e73\u7a33\uff0c\u8d85\u8fc7 1517 \u4e07\u4eba\u63d0\u4f9b\u65e0\u521b\u4ea7\u524d\u57fa\u56e0\u68c0\u6d4b\uff0c\u8f93\u51fa\u6280\u672f\u65b9\u6848\u5230\u4e2d\u4e1c\uff08\u5408\u8d44\u4f01\u4e1aGenalive\uff09\u3001\u963f\u6839\u5ef7\uff08\u5408\u4f5c\u4f01\u4e1aBiogenar\uff09\u7b49\u5730\u533a\uff1b\u8d1d\u745e\u57fa\u56e0\u7684\u5e02\u503c\u4e3a27.29\u4ebf\u5143\uff0c2023\u5e74\u603b\u8425\u653611.51\u4ebf\u5143\uff08\u540c\u6bd4\u4e0b\u964d15.83%\uff09\u3002\u56fd\u5916NIPT\u4ee3\u8868\u4f01\u4e1aInvitae\u76842023\u5e74\u8425\u6536\u7ea6\u4e3a4.87\u4ebf\u7f8e\u5143\uff08\u540c\u6bd4\u4e0b\u964d\u7ea66%\uff09\uff0cGAAP\u6bdb\u5229\u7387\u4e3a36.0%\u30022024\u5e741\u6708\uff0cNatera\u5ba3\u5e03\u5b8c\u6210\u4ee55250\u4e07\u7f8e\u5143\u6536\u8d2dInvitae\u7684\u65e0\u521b\u4ea7\u524d\u7b5b\u67e5\u548c\u643a\u5e26\u8005\u4e1a\u52a1\u3002\u00a0<\/p>\n<p>\u5728\u65e0\u521b\u4ea7\u524d\u57fa\u56e0\u68c0\u6d4b\u9886\u57df\uff0c\u672a\u6765\u5efa\u8bae\u5173\u6ce8\u4ee5\u4e0b\u65b9\u9762\u3002<\/p>\n<p>\u6280\u672f\u5c42\u9762\uff1a\u6269\u5927NIPT\u7b5b\u67e5\u6280\u672f\u7c7b\u522b\u548c\u5e94\u7528\u8303\u56f4\u3002<\/p>\n<p>\u6a21\u5f0f\u5c42\u9762\uff1aNIPT\u4f5c\u4e3a\u6c11\u751f\u9879\u76ee\u7684\u6807\u6746\u5e94\u7528\uff0c\u53ef\u4ee5\u501f\u9274\u957f\u6c99\u5e02\u3001\u6cb3\u5317\u7701\u7b49\u5730\u533a\u6a21\u5f0f\u8fdb\u4e00\u6b65\u6269\u5927\u8986\u76d6\u9762\uff1b\u540c\u65f6\u9700\u8981\u5173\u6ce8\uff0c\u6c11\u751f\u9879\u76ee\u5b58\u5728\u5355\u4e00\u6a21\u5f0f\u4f9d\u8d56\u7684\u98ce\u9669\uff0c\u964d\u4f4e\u4e86\u65b0\u5174\u6280\u672f\u5e94\u7528\u3001\u521b\u65b0\u79ef\u6781\u6027\u53ca\u6574\u4f53\u4ea7\u503c\u3002\u4ece\u4e0a\u5e02\u4f01\u4e1a\u516c\u5f00\u8d22\u62a5\u4e0a\u4e5f\u53ef\u4ee5\u770b\u51fa\u6837\u672c\u91cf\u7684\u589e\u52a0\u5e76\u672a\u5e26\u6765\u6210\u6bd4\u4f8b\u7684\u8425\u6536\u53ca\u5229\u6da6\u589e\u52a0\uff0c\u9700\u8981\u8fdb\u4e00\u6b65\u9769\u65b0\u5e02\u573a\u8303\u5f0f\u3002<\/p>\n<p>\u5236\u5ea6\u5c42\u9762\uff1a\u5efa\u8bae\u63a8\u52a8NIPT Plus\u7b49\u65b0\u5174\u6280\u672f\u7684\u4e34\u5e8a\u51c6\u5165\uff0c\u5c06\u6210\u719f\u5ea6\u7684NIPT\u81ea\u52a8\u5316\u5f15\u5165\u533b\u8054\u4f53\u548c\u57fa\u5c42\u533b\u7597\u3002<\/p>\n<p>&nbsp;<\/p>\n<p>\u4e94\u3001\u65b0\u751f\u513f\u57fa\u56e0\u7b5b\u67e5<\/p>\n<p>\uff08\u4e00\uff09\u9700\u6c42<\/p>\n<p>\u5927\u591a\u6570\u60a3\u6709\u5148\u5929\u6027\u9057\u4f20\u75c5\u7684\u5a74\u513f\u5f80\u5f80\u7f3a\u4e4f\u7279\u5f02\u6027\u8868\u73b0\uff0c\u4e00\u822c\u8981\u52306\u4e2a\u6708\u540e\u624d\u51fa\u73b0\u75be\u75c5\u56fa\u6709\u7684\u4e34\u5e8a\u75c7\u72b6\uff0c\u5bb9\u6613\u9519\u8fc7\u6700\u4f73\u6cbb\u7597\u65f6\u673a\u3002\u901a\u8fc7\u57fa\u56e0\u7b5b\u67e5\u548c\u9057\u4f20\u8bca\u65ad\u4e86\u89e3\u75be\u75c5\u7684\u75c5\u56e0\u3001\u9884\u6d4b\u53ef\u80fd\u7684\u4e34\u5e8a\u75c7\u72b6\u3001\u4f53\u5f81\u4ee5\u53ca\u672a\u6765\u7684\u53d1\u5c55\u8d70\u5411\uff0c\u4ee5\u4fbf\u5b9e\u65bd\u53ca\u65f6\u51c6\u786e\u7684\u533b\u5b66\u5e72\u9884\u3002\u65b0\u751f\u513f\u65f6\u671f\u662f\u7f55\u89c1\u75c5\u8bca\u6cbb\u7684\u4e3b\u6218\u573a\u3002<\/p>\n<p>\uff08\u4e8c\uff09\u5b9a\u4e49<\/p>\n<p>\u65b0\u751f\u513f\u7b5b\u67e5\uff08Newborn Screening, NBS\uff09\u53c8\u79f0\u4e4b\u4e3a\u65b0\u751f\u513f\u75be\u75c5\u7b5b\u67e5\uff0c\u662f\u75be\u75c5\u4e09\u7ea7\u9884\u9632\u7684\u6709\u6548\u63aa\u65bd\uff0c\u662f\u6307\u901a\u8fc7\u5feb\u901f\u3001\u7b80\u4fbf\u3001\u654f\u611f\u7684\u68c0\u9a8c\u65b9\u6cd5\uff0c\u5bf9\u65b0\u751f\u513f\u7b5b\u67e5\u5371\u53ca\u751f\u547d\u3001\u5371\u5bb3\u751f\u957f\u53d1\u80b2\u3001\u5bfc\u81f4\u667a\u80fd\u969c\u788d\u7684\u4e00\u4e9b\u5148\u5929\u6027\u3001\u9057\u4f20\u6027\u75be\u75c5\u8fdb\u884c\u7b5b\u67e5\uff0c\u5bf9\u53d7\u68c0\u8005\u5728\u4e34\u5e8a\u5c1a\u672a\u51fa\u73b0\u75be\u75c5\u8868\u73b0\u4f46\u5176\u4f53\u5185\u4ee3\u8c22\u6216\u57fa\u56e0\u5df2\u6709\u5f02\u5e38\u53d8\u5316\u65f6\u65e9\u671f\u8bca\u65ad\uff0c\u4ee5\u52a9\u4e8e\u5c3d\u65e9\u4e14\u6709\u6548\u5730\u5e72\u9884\u6cbb\u7597\u3002\u00a0<\/p>\n<p>\u65b0\u751f\u513f\u7b5b\u67e5\u7684\u75c5\u79cd\u8303\u56f4\u56e0\u5730\u533a\u4e0d\u540c\u800c\u6709\u5dee\u5f02\uff0c \u5e38\u89c1\u7684\u75be\u75c5\u79cd\u7c7b\u5305\u62ec\u82ef\u4e19\u916e\u5c3f\u75c7\uff08PKU\uff09\u3001\u9ad8\u82ef\u4e19\u6c28\u9178\u8840\u75c7(HPA)\u3001\u542c\u529b\u969c\u788d\u3001\u5148\u5929\u6027\u5fc3\u810f\u75c5\u7b49\u3001\u5148\u5929\u6027\u7532\u72b6\u817a\u529f\u80fd\u51cf\u9000\u75c7(CH)\u3001\u8461\u8404\u7cd6-6-\u78f7\u9178\u8131\u6c22\u9176\u7f3a\u4e4f\u75c7(G-6-PD)\u3001\u5148\u5929\u6027\u80be\u4e0a\u817a\u76ae\u8d28\u589e\u751f\u75c7(CAH)\u7b49\u3002\u00a0<\/p>\n<p>\u4f20\u7edf\u65b0\u751f\u513f\u7b5b\u67e5\u901a\u8fc7\u4e32\u8054\u8d28\u8c31\u6280\u672f\uff0c\u4ee5\u4ee3\u8c22\u7269(\u6c28\u57fa\u9178\u7b49)\u4f5c\u4e3a\u6807\u5fd7\u7269\u7b5b\u67e5\u9057\u4f20\u4ee3\u8c22\u75c5\u3002\u8fd1\u5e74\uff0c\u9010\u6b65\u53d1\u5c55\u5230\u4ee5NGS\u6280\u672f\u6765\u8fdb\u884c\u65b0\u751f\u513f\u57fa\u56e0\u7b5b\u67e5\uff0c\u8fdb\u4e00\u6b65\u6269\u5927\u65b0\u751f\u513f\u57fa\u56e0\u7b5b\u67e5\u7684\u75c5\u79cd\u8303\u56f4\uff0c\u7279\u522b\u5bf9\u4e8e\u5c1a\u65e0\u53ef\u9760\u751f\u5316\u6807\u5fd7\u7269\u7684\u75c5\u79cd\u7b49\u65b9\u9762\u6709\u660e\u663e\u4f18\u52bf\u3002<\/p>\n<p>\uff08\u4e09\uff09\u5e94\u7528<\/p>\n<p>20\u4e16\u7eaa60\u5e74\uff0c\u5fae\u751f\u7269\u5b66\u5bb6\u7f57\u4f2f\u7279\u00b7\u683c\u601d\u91cc\uff08Robert Guthrie\uff09\u5f15\u5165\u8db3\u8ddf\u91c7\u8840\u5230\u5e72\u8840\u6ee4\u7eb8 \u7247\u6765\u7b5b\u67e5\u82ef\u4e19\u916e\u5c3f\u75c7(\u4e00\u79cd\u7f55\u89c1\u7684\u9057\u4f20\u6027\u4ee3\u8c22\u75be\u75c5)\uff0c\u5f00\u542f\u65b0\u751f\u513f\u7b5b\u67e5\uff0c\u5e76\u5f97\u5230\u8fc5\u901f\u63a8\u5e7f\u3002\u8fd9\u79cd\u65b9\u6cd5\u53ef\u4ee5\u8ba9\u60a3\u6709\u82ef\u4e19\u916e\u5c3f\u75c7\u7684\u5a74\u513f\u5728\u51fa\u751f\u540e\u4e0d\u4e45\u5c31\u88ab\u8bc6\u522b\u51fa\u6765\uff0c\u901a\u8fc7\u6444\u5165\u4f4e\u82ef\u4e19\u6c28\u9178\u7684\u98df\u7269\u4ee5\u53ca\u836f\u7269\u6cbb\u7597\uff0c\u80fd\u6709\u6548\u9632\u6b62\u51fa\u73b0\u667a\u529b\u969c\u788d\u7b49\u95ee\u9898\u3002\u00a0<\/p>\n<p>2014 \u5e74\uff0c\u7f8e\u56fd\u56fd\u7acb\u4eba\u7c7b\u57fa\u56e0\u7ec4\u7814\u7a76\u6240(NHGRI)\u53d1\u8d77\u57fa\u4e8e NGS \u7684\u65b0\u751f\u513f\u57fa\u56e0\u7b5b\u67e5\u9879\u76ee BabySeq\uff0c\u7ed3\u679c\u663e\u793a\uff1a11%\u5b58\u5728\u8bca\u65ad\u6027\u6216\u9884\u6d4b\u6027\u5355\u57fa\u56e0\u75c5\u53d1\u75c5\u98ce\u9669\uff0c5% 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England\u4e0eNHS\u4e3b\u5bfc\u3002<\/p>\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter\"><img decoding=\"async\" src=\"https:\/\/www.geneclub.net.cn\/wp-content\/uploads\/images\/RmFicvQBAkgAZnLkDe7uhjxzfJygsrK2LcSey0eaRibf5OxBRibbVtvriaTAlGUFhHc9OnZaInuVlWpznpQzIjwNcA.png\" alt=\"RmFicvQBAkgAZnLkDe7uhjxzfJygsrK2LcSey0eaRibf5OxBRibbVtvriaTAlGUFhHc9OnZaInuVlWpznpQzIjwNcA\"\/><\/figure><\/div>\n\n<\/p>\n<p>\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter\"><img decoding=\"async\" src=\"https:\/\/www.geneclub.net.cn\/wp-content\/uploads\/images\/RmFicvQBAkgAZnLkDe7uhjxzfJygsrK2LUpXF2fut8W4vulDe0ckUhOmWEsPH5gs8LQonicoIG8KTwiacxkGJbSug.png\" alt=\"RmFicvQBAkgAZnLkDe7uhjxzfJygsrK2LUpXF2fut8W4vulDe0ckUhOmWEsPH5gs8LQonicoIG8KTwiacxkGJbSug\"\/><\/figure><\/div>\n\n<p style=\"text-align: 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International)\u4e3b\u5bfc\u7684Early 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Kingsmore\u56e2\u961f\u4e3a\u513f\u7ae5\u91cd\u75c7\u76d1\u62a4\u5ba4\uff08PICU\uff09\u572850\u5c0f\u65f6\u5185\u505a\u51fa\u8bca\u65ad\uff0c\u9996\u6b21\u5b9e\u73b0rWGS\u7684\u4e34\u5e8a\u53ef\u884c\u6027\u7814\u7a76\u30022022\u5e74\uff0cStephen\u4e0e\u5408\u4f5c\u56e2\u961f\u5efa\u7acbGTRx\u8bca\u65ad\u7ba1\u7406\u7cfb\u7edf\uff0c\u572813.5\u5c0f\u65f6\u5185\u5b9e\u73b0SV\u548cCNV\u68c0\u6d4b\u548c\u9057\u4f20\u75c5\u8bca\u65ad\u3002\u6839\u636eRady\u513f\u7ae5\u57fa\u56e0\u7ec4\u533b\u5b66\u7814\u7a76\u62402012~2021\u5e7431\u9879\u8bd5\u9a8c\u4e2d\uff0c2433\u540d\u513f\u7ae5\u5728\u63a5\u53d7rWGS\u540e\u5b9e\u73b0\u4e86\u5e73\u574737%\u7684\u8bca\u65ad\uff0c29%\u7684\u4e34\u5e8a\u65b9\u6848\u8c03\u6574\uff0c18%\u4e0d\u540c\u7684\u4e34\u5e8a\u7ed3\u5c40\uff0c\u6709\u6548\u8bc1\u660e\u4e86rWGS\u5728\u4e34\u5e8a\u9057\u4f20\u75c5\u8bca\u65ad\u4e2d\u7684\u6709\u6548\u6027\u3002<\/p>\n<p>\uff08\u4e94\uff09\u4ea7\u4e1a<\/p>\n<p>\u65b0\u751f\u513f\u57fa\u56e0\u7b5b\u67e5\uff0c\u5f80\u5f80\u4e0e\u4e0a\u6587\u63d0\u5230\u7684\u643a\u5e26\u8005\u7b5b\u67e5\u3001\u4ea7\u524d\u57fa\u56e0\u7b5b\u67e5\u3001\u80da\u80ce\u690d\u5165\u524d\u9057\u4f20\u5b66\u68c0\u6d4b\u7b49\u4f5c\u4e3a\u751f\u6b96\u5065\u5eb7\u57fa\u56e0\u68c0\u6d4b\u670d\u52a1\u6574\u4f53\u65b9\u6848\u3002\u4e0d\u540c\u70b9\u5728\u4e8e\uff0c\u65b0\u751f\u513f\u57fa\u56e0\u7b5b\u67e5\u7684\u5927\u89c4\u6a21\u6837\u672c\u4ee5\u53ca\u5168\u57fa\u56e0\u7ec4\u6d4b\u5e8f\u7684\u6570\u636e\u5b8c\u6574\u6027\uff0c\u662f\u7fa4\u4f53\u961f\u5217\u7814\u7a76\u3001\u5065\u5eb7\u57fa\u7ebf\u4ee5\u53ca\u836f\u7269\u7814\u53d1\u7684\u91cd\u8981\u8def\u5f84\uff0c\u56e0\u6b64\u4ea7\u4e1a\u65b9\u9762\u4e3b\u8981\u96c6\u4e2d\u7684\u5934\u90e8\u4f01\u4e1a\u3002\u91cd\u70b9\u4f01\u4e1a\u53ef\u4ee5\u5173\u6ce8Illumina\u3001GeneDx\uff08Sema4\uff09\u3001\u534e\u5927\u57fa\u56e0\u3001\u8d1d\u745e\u57fa\u56e0\u3001\u8d5b\u798f\u57fa\u56e0\u3001\u535a\u5723\u751f\u7269\u7b49\u3002\u5176\u4e2d\uff0c\u8d5b\u798f\u57fa\u56e0\u4ee5\u9057\u4f20\u75c5\u7684\u8f85\u52a9\u8bca\u65ad\u7b5b\u67e5\u3001\u529f\u80fd\u9a8c\u8bc1\u3001\u9ad8\u901a\u91cf\u836f\u7269\u7b5b\u9009\u5e73\u53f0\u6765\u6784\u5efa\u4e34\u5e8a\uff0d\u79d1\u7814\uff0d\u836f\u7269\u7814\u53d1\u9632\u8bca\u7597\u95ed\u73af\uff0c\u57282024\u5e745\u6708\u9006\u52bf\u5b8c\u6210\u4ebf\u5143C\u8f6e\u878d\u8d44\u3002\u00a0<\/p>\n<p>\u5728\u65b0\u751f\u513f\u57fa\u56e0\u7b5b\u67e5\u9886\u57df\uff0c\u672a\u6765\u5efa\u8bae\u5173\u6ce8\u4ee5\u4e0b\u65b9\u9762\u3002<\/p>\n<p>\u6280\u672f\u5c42\u9762\uff1aNGS\u7684\u68c0\u6d4b\u6210\u672c\u8fdb\u4e00\u6b65\u964d\u4f4e\u6765\u6269\u5927\u68c0\u6d4b\u4eba\u7fa4\uff0c\u7ed3\u5408\u5355\u5206\u5b50\u6d4b\u5e8f\u6765\u68c0\u6d4b\u5d4c\u5408\u7a81\u53d8\u7b49\u7279\u6b8a\u53d8\u5f02\u60c5\u51b5\uff0c\u5f00\u53d1\u56fd\u4ea7\u5316\u57fa\u56e0\u89e3\u8bfb\u6570\u636e\u5e93\u53ca\u5de5\u5177\uff0c\u52a0\u901f\u57fa\u56e0\u7ec4\u548c\u4ee3\u8c22\u7ec4\u7684\u4ea7\u54c1\u6574\u5408\uff1b<\/p>\n<p>\u6a21\u5f0f\u5c42\u9762\uff1a\u4e0eCRO\u53ca\u836f\u4f01\u5408\u4f5c\u65b0\u836f\u9776\u70b9\u53d1\u73b0\u3001\u4e34\u5e8a\u8bd5\u9a8c\u548c\u57fa\u56e0\u6cbb\u7597\u7b49\uff0c\u63d0\u5347\u8f6c\u5316\u7814\u7a76\u4ef7\u503c\uff0c\u5206\u644a\u7b5b\u67e5\u6210\u672c\u3002\u4e0e\u65b0\u751f\u513f\u534f\u4f5c\u7f51\u7edc\u5408\u4f5c\uff0c\u5efa\u7acb\u591a\u4e2d\u5fc3\u524d\u77bb\u6027\u5f00\u653e\u6027\u961f\u5217\u4ee5\u53ca\u5f00\u5c55\u771f\u5b9e\u4e16\u754c\u6570\u636e\u7814\u7a76\uff0c\u4e3a\u56f4\u4ea7\u671f\u53ca\u65b0\u751f\u513f\u91cd\u75c7\u76d1\u62a4\u75c5\u623f(NICU)\u63d0\u4f9b\u79d1\u5b66\u652f\u6491\u3002\u5168\u56fd\u6027\u6216\u533a\u57df\u6027\u7684\u65b0\u751f\u513f\u534f\u4f5c\u7f51\u5305\u62ec\uff1a\u590d\u65e6\u5927\u5b66\u9644\u5c5e\u513f\u79d1\u533b\u9662\u7275\u5934\u5efa\u7acb\u7684\u4e2d\u56fd\u65b0\u751f\u513f\u534f\u4f5c\u7f51(Chinese Neonatal Network\uff0cCHNN)\u3001\u65b0\u751f\u513f\u547c\u5438\u75c5\u534f\u4f5c\u7f51\u3001\u91cd\u5e86\u533b\u79d1\u5927\u5b66\u9644\u5c5e\u513f\u7ae5\u533b\u9662\u7275\u5934\u7684\u5371\u91cd\u65b0\u751f\u513f\u534f\u4f5c\u7f51\u3001\u5357\u4eac\u5e02\u5987\u5e7c\u4fdd\u5065\u9662\u7275\u5934\u7684\u6c5f\u82cf\u7701\u65b0\u751f\u513f\u56f4\u4ea7\u671f\u534f\u4f5c\u7f51\u3001\u5c71\u4e1c\u7b2c\u4e00\u533b\u79d1\u5927\u5b66\u9644\u5c5e\u7701\u7acb\u533b\u9662\u7275\u5934\u7684\u4e2d\u56fd\u5317\u65b9\u65b0\u751f\u513f\u534f\u4f5c\u7f51(Sino-northern Neonatal Network\uff0cSNN)\u7b49\uff1b\u00a0<\/p>\n<p>\u5236\u5ea6\u5c42\u9762\uff1a\u5728\u6280\u672f\u6210\u719f\u57fa\u7840\u4e0a\u63a8\u8fdb\u65b0\u751f\u513f\u57fa\u56e0\u7b5b\u67e5\u7684\u4ea7\u54c1\u4e0a\u5e02\u53ca\u6c11\u751f\u9879\u76ee\u7684\u5e94\u7528\uff0c\u5efa\u8bae\u8fdb\u4e00\u6b65\u66f4\u65b0\u65b0\u751f\u513f\u7b5b\u67e5\u7684\u8303\u56f4\u53ca\u6280\u672f\uff0c\u6307\u5bfc\u751f\u80b2\u5065\u5eb7\uff0c\u8fdb\u4e00\u6b65\u964d\u4f4e\u751f\u80b2\u6210\u672c\uff0c\u4fc3\u8fdb\u4eba\u53e3\u9ad8\u8d28\u91cf\u53d1\u5c55\u3002\u6211\u56fd\u76ee\u524d\u5b9e\u65bd\u7684\u300a\u65b0\u751f\u513f\u75be\u75c5\u7b5b\u67e5\u7ba1\u7406\u529e\u6cd5\u300b\u53d1\u5e03\u4e8e2009\u5e74\uff0c\u5176\u4e2d\u89c4\u5b9a\u7684\u7b5b\u67e5\u8303\u56f4\u4ec5\u5305\u62ec\u5148\u5929\u6027\u7532\u72b6\u817a\u529f\u80fd\u51cf\u4f4e\u75c7\u3001\u82ef\u4e19\u916e\u5c3f\u75c7\u7b49\u65b0\u751f\u513f\u9057\u4f20\u4ee3\u8c22\u75c5\u548c\u542c\u529b\u969c\u788d\u3002<\/p>\n<p>&nbsp;<\/p>\n<p>\u516d\u3001\u57fa\u56e0\u6280\u672f\u4e0e\u7f55\u89c1\u75c5\u8bca\u7597<\/p>\n<p>\u57fa\u4e8e\u57fa\u56e0\u68c0\u6d4b\u7684\u7f55\u89c1\u75c5\u8bca\u65ad\u5728\u4e34\u5e8a\u4e2d\u4e0e\u751f\u80b2\u5bc6\u5207\u76f8\u5173\uff0c\u56e0\u6b64\u5728\u8fd9\u91cc\u653e\u5728\u751f\u80b2\u5065\u5eb7\u677f\u5757\u3002\u7f55\u89c1\u75c5\u7684\u6cbb\u7597\u5305\u62ec\u591a\u4e2a\u65b9\u9762\uff0c\u8fd9\u91cc\u4e3b\u8981\u56f4\u7ed5\u57fa\u56e0\u6280\u672f\u4e0e\u5b64\u513f\u836f\u5c55\u5f00\uff0c\u7ec6\u80de\u548c\u57fa\u56e0\u6cbb\u7597\u7684\u8be6\u60c5\u89c1\u540e\u7eed\u7ae0\u8282\u3002<\/p>\n<p>\uff08\u4e00\uff09\u9700\u6c42<\/p>\n<p>\u5c3d\u7ba1\u7f55\u89c1\u75c5\u5355\u75c5\u79cd\u60a3\u75c5\u7387\u4f4e\uff0c\u4f46\u9ad8\u8fbe6313\u79cd\uff08Orphanet\u6570\u636e\u5e93\u622a\u6b622024\u5e746\u6708\u7edf\u8ba1\uff09\uff0c\u5168\u7403\u7d2f\u8ba1\u7ea63\u4ebf\u4eba\u7f55\u89c1\u75c5\u60a3\u8005\uff0c\u8fd170%\u7f55\u89c1\u75c5\u51fa\u73b0\u5728\u513f\u7ae5\u65f6\u671f\uff0c\u8d85\u8fc795%\u7684\u7f55\u89c1\u75c5\u6ca1\u6709\u6210\u719f\u6cbb\u7597\u65b9\u6848\u3002\u56e0\u4e3a\u8868\u5f81\u590d\u6742\uff0c\u75c5\u4f8b\u7a00\u5c11\uff0c\u4e14\u540c\u4e00\u75c5\u75c5\u79cd\u7684\u4eba\u6570\u5c11\uff0c\u7f55\u89c1\u75c5\u8bca\u65ad\u590d\u6742\u5ea6\u9ad8\uff0c\u5728\u6211\u56fd\u5e73\u5747\u9700\u89814-5\u5e74\u624d\u80fd\u786e\u8bca\uff0c42%\u7684\u60a3\u8005\u7ecf\u5386\u8fc7\u8bef\u8bca\uff0c\u8fd1\u4e03\u6210\u7684\u533b\u52a1\u5de5\u4f5c\u8005\u5e76\u4e0d\u4e86\u89e3\u7f55\u89c1\u75c5\uff1b\u4f5c\u4e3a\u5f88\u591a\u5e38\u89c1\u75be\u75c5\u7684\u6781\u7aef\u8868\u73b0\u5f62\u5f0f\uff0c\u7f55\u89c1\u75c5\u53c8\u4e3a\u533b\u5b66\u7814\u7a76\u63d0\u4f9b\u57fa\u7840\u6027\u652f\u6491\u3002\u00a0<\/p>\n<p>\u7f55\u89c1\u75c5\u662f\u5168\u7403\u805a\u7126\u7684\u533b\u5b66\u3001\u793e\u4f1a\u53ca\u79d1\u7814\u8bfe\u9898\u30022021\u5e74\uff0c\u8054\u5408\u56fd\u5927\u4f1a\u7b2c76\u5c4a\u4f1a\u8bae\u5ba1\u8bae\u901a\u8fc7\u300a\u5e94\u5bf9\u7f55\u89c1\u75be\u75c5\u60a3\u8005\u53ca\u5176\u5bb6\u4eba\u9762\u4e34\u7684\u6311\u6218\u300b\u7684\u51b3\u8bae\u30022022\u5e74\uff0c\u6211\u56fd\u56fd\u5bb6\u536b\u751f\u5065\u5eb7\u59d4\u53d1\u5e03\u300a\u56fd\u5bb6\u7f55\u89c1\u75c5\u533b\u5b66\u4e2d\u5fc3\u8bbe\u7f6e\u6807\u51c6\u300b\uff0c\u5176\u4e2d\u8981\u6c42\u7684\u9996\u4e2a\u6838\u5fc3\u6280\u672f\u6761\u4ef6\u662f\u9700\u5177\u5907\u7f55\u89c1\u75c5\u57fa\u56e0\u68c0\u6d4b\u80fd\u529b\u3002\u00a0<\/p>\n<p>\u57fa\u56e0\u6280\u672f\u662f\u7f55\u89c1\u75c5\u8bca\u7597\u7684\u91cd\u8981\u6293\u624b\u3002\u7f55\u89c1\u75c5\u4e2d80%\u662f\u9057\u4f20\u6027\u75be\u75c5\uff0c\u5df2\u53d1\u73b0\u76846313\u4f59\u79cd\u7f55\u89c1\u75c5\u4e0e4489\u4e2a\u57fa\u56e0\u76f8\u5173\u3002\u5728\u4f20\u7edf\u533b\u5b66\u7684\u57fa\u7840\u4e0a\uff0c\u901a\u8fc7\u57fa\u56e0\u68c0\u6d4b\u548c\u9057\u4f20\u54a8\u8be2\u786e\u5b9a\u7f55\u89c1\u75c5\u76f8\u5173\u57fa\u56e0\u53d8\u5f02\uff0c\u4f7f\u5f9725-35%\u7684\u672a\u786e\u8bca\u60a3\u8005\u5f97\u5230\u8bca\u65ad\uff08PMID: 35220969\uff09\uff0c\u4e5f\u4e3a\u53d7\u68c0\u8005\u5bb6\u5ead\u63d0\u4f9b\u751f\u80b2\u6307\u5bfc\u3002\u57fa\u56e0\u68c0\u6d4b\u7684\u9ad8\u901f\u53d1\u5c55\u5c06\u7f55\u89c1\u75c5\u53d1\u73b0\u4e0e\u57fa\u56e0\u786e\u5b9a\u7684\u65f6\u95f4\u5dee\u8ddd\u5feb\u901f\u7f29\u77ed\uff0c\u4ece90\u5e74\u4ee3\u7684\u6700\u957f37\u5e74\u52302014\u5e74\u7684\u51e0\u4e4e\u540c\u6b65\u3002<\/p>\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter\"><img decoding=\"async\" src=\"https:\/\/www.geneclub.net.cn\/wp-content\/uploads\/images\/RmFicvQBAkgAZnLkDe7uhjxzfJygsrK2LZNibfjMKpYWHibo0g4FbMtXzDZ7Qopnicoa4TVZSXylJFYXXt3ml3MgKg.png\" alt=\"RmFicvQBAkgAZnLkDe7uhjxzfJygsrK2LZNibfjMKpYWHibo0g4FbMtXzDZ7Qopnicoa4TVZSXylJFYXXt3ml3MgKg\"\/><\/figure><\/div>\n\n<p style=\"text-align: center;\">\u56fe\uff1a\u57fa\u56e0\u6280\u672f\u5e2e\u52a9\u5feb\u901f\u786e\u5b9a\u7f55\u89c1\u75c5\u76f8\u5173\u57fa\u56e0\uff08\u6765\u6e90\/\u57fa\u56e0\u6167\u300a\u57fa\u56e0\u884c\u4e1a\u84dd\u76ae\u4e66\u300b\uff09<\/p>\n<p>\uff08\u4e8c\uff09\u5b9a\u4e49<\/p>\n<p>\u7f55\u89c1\u75c5\uff08Rare disease\uff09\u4e00\u8bcd\u53ef\u4ee5\u8ffd\u6eaf\u52301867 \u5e74\u7684\u6587\u732e\u4e2d\uff0c\u6307\u7684\u662f\u60a3\u75c5\u7387\u8f83\u4f4e\u7684\u75be\u75c5\u3002\u548c\u5176\u4ed6\u75be\u75c5\u5206\u7c7b\u4e0d\u540c\uff0c\u7f55\u89c1\u75c5\u5173\u4e4e\u7fa4\u4f53\u7684\u516c\u5171\u536b\u751f\u5065\u5eb7\u53ca\u4e2a\u4f53\u516c\u5e73\u5c31\u533b\u3002WHO\u5b9a\u4e49\u7f55\u89c1\u75c5\u662f\u4e00\u7c7b\u5177\u6709\u7279\u5b9a\u4e34\u5e8a\u75c7\u72b6\u548c\u4f53\u5f81\u3001\u53d1\u75c5\u7387\u5c11\u4e8e1\/2000\u4eba\u7684\u75be\u75c5\u3002\u56fd\u9645\u75be\u75c5\u5206\u7c7b\u7f16\u7801\u7cfb\u7edf\uff08ICD\uff09\u6536\u5f55\u4e865500\u79cd\u7f55\u89c1\u75c5\uff08ICD\u6700\u65b0\u7248\u672c\u4e2d\uff0c\u6bcf\u4e00\u79cd\u7f55\u89c1\u75be\u75c5\u5bf9\u5e94\u552f\u4e00\u7684\u6807\u8bc6\u7b26\uff08URI\uff09\uff0c\u534f\u540cOrphane\u53caWHO\u5b9a\u671f\u66f4\u65b0\uff0c\u63d0\u4f9b\u4e2d\u6587\u7b49\u5341\u79cd\u8bed\u8a00\uff09\u3002\u00a0<\/p>\n<p>\u5404\u56fd\u6839\u636e\u56fd\u60c5\u5bf9\u7f55\u89c1\u75c5\u7684\u5b9a\u4e49\u4e0d\u540c\u30022021\u5e74\uff0c\u5168\u56fd\u7f55\u89c1\u75c5\u5b66\u672f\u56e2\u4f53\u4e3b\u59d4\u8054\u5e2d\u4f1a\u8bae\u7b49\u5b9a\u4e49\u6211\u56fd\u7f55\u89c1\u75c5\u4e3a\u65b0\u751f\u513f\u53d1\u75c5\u7387\u5c0f\u4e8e\u4e07\u5206\u4e4b\u4e00\u3001\u60a3\u75c5\u7387\u5c0f\u4e8e\u4e07\u5206\u4e4b\u4e00\u3001\u60a3\u75c5\u4eba\u6570\u5c0f\u4e8e14\u4e07\u7684\u75be\u75c5\u3002\u7f55\u89c1\u75c5\u7fa4\u4f53\u89c4\u6a21\u5927\u540c\u65f6\u5355\u4e00\u75c5\u79cd\u4eba\u6570\u5c11\uff0c\u9700\u8981\u653f\u7b56\u652f\u6301\u3002\u5404\u56fd\u548c\u5730\u533a\u901a\u8fc7\u7acb\u6cd5\u4ee5\u53ca\u7814\u7a76\u8d44\u52a9\u3001\u516c\u76ca\u7ec4\u7ec7\u3001\u4fe1\u606f\u7f51\u7edc\u3001\u7814\u53d1\u8865\u8d34\u7b49\u5f62\u5f0f\u6765\u63d0\u9ad8\u7f55\u89c1\u75c5\u8bca\u6cbb\u6c34\u5e73\u548c\u60a3\u8005\u6743\u76ca\u4fdd\u969c\u3002\uff08\u90e8\u5206\u5185\u5bb9\u7565\uff09<\/p>\n<p>\uff08\u4e09\uff09\u5e94\u7528<\/p>\n<p>\u7f55\u89c1\u75c5\u7684\u8bca\u7597\uff0c\u9664\u4e86\u9488\u5bf9\u4e34\u5e8a\u7f55\u89c1\u75c5\u60a3\u8005\uff0c\u4e5f\u548c\u643a\u5e26\u8005\u7b5b\u67e5\u3001\u4ea7\u524d\u7b5b\u67e5\u3001\u8f85\u52a9\u751f\u6b96\u3001\u65b0\u751f\u513f\u7b5b\u67e5\u7b49\u5bc6\u5207\u76f8\u5173\u3002\u52a0\u5f3a\u7f55\u89c1\u75c5\u7684\u57fa\u7840\u7814\u7a76\uff0c\u63d0\u9ad8\u7f55\u89c1\u75c5\u8bca\u7597\u6c34\u5e73\uff0c\u7ef4\u62a4\u7f55\u89c1\u75c5\u60a3\u8005\u7684\u5065\u5eb7\u6743\u76ca\uff0c\u63a8\u52a8\u7f55\u89c1\u75c5\u836f\u7269\u7684\u7814\u53d1\u79ef\u6781\u6027\uff0c\u5bf9\u60a3\u8005\u4e2a\u4eba\u3001\u5bb6\u5ead\u3001\u533b\u5b66\u53ca\u793e\u4f1a\u7b49\u5177\u6709\u91cd\u8981\u7684\u4ef7\u503c\u3002<\/p>\n<p>\u7f55\u89c1\u75c5\u7b5b\u67e5\uff0c\u53ef\u4ee5\u65e9\u671f\u8bc6\u522b\u7f55\u89c1\u75c5\uff0c\u662f\u90e8\u5206\u5730\u533a\u9884\u9632\u6027\u5e72\u9884\u63aa\u65bd\u4e4b\u4e00\uff0c\u4f53\u73b0\u5728\u65b0\u751f\u513f\u7b5b\u67e5\u548c\u5b55\u524d\u643a\u5e26\u8005\u7b5b\u67e5\uff0c\u9700\u7ed3\u5408\u751f\u547d\u4f26\u7406\u7b49\u8c28\u614e\u5b9e\u65bd\u30022018\u5e74\uff0c\u7f8e\u56fd\u5317\u5361\u5dde\u516c\u5171\u536b\u751f\u5b9e\u9a8c\u5ba4\u548c\u675c\u514b\u5927\u5b66\u7b49\u7275\u5934\u7684\u65b0\u751f\u513f\u7b5b\u67e5\u9879\u76eeEarly Check\u7eb3\u5165\u7684200\u79cd\u75be\u75c5\u4e2d\u5305\u62ec180\u79cd\u53ef\u6cbb\u7597\u7684\u7f55\u89c1\u75c5\uff1b\u7ebd\u7ea6\u5dde\u536b\u751f\u90e8\u7b49\u7275\u5934\u7684\u65b0\u751f\u513f\u7b5b\u67e5\u9879\u76eeGUARDIAN\u9879\u76ee\u901a\u8fc7WGS\u4e00\u6b21\u6027\u7b5b\u67e5\u8d85250\u79cd\u7f55\u89c1\u9057\u4f20\u75c5\uff1b\u6211\u56fd\u65b0\u751f\u513f\u7b5b\u67e5\u961f\u5217\u4e2d\u4e5f\u8986\u76d6\u4e86\u82e5\u5e72\u7f55\u89c1\u75c5\u3002\u5982\u672c\u84dd\u76ae\u4e66\u524d\u6587\u6240\u8ff0\uff0c\u5305\u542b\u7f55\u89c1\u75c5\u7b5b\u67e5\u5728\u5185\u7684\u65b0\u751f\u513f\u7b5b\u67e5\u4ee5\u653f\u5e9c\u4e3b\u5bfc\u548c\u652f\u4ed8\u7684\u6c11\u751f\u9879\u76ee\u4e3a\u4e3b\uff0c\u76ee\u524d\u5728\u79ef\u6781\u5f00\u5c55\u4e2d\u3002\u00a0<\/p>\n<p>\u57fa\u4e8e\u57fa\u56e0\u68c0\u6d4b\u7684\u7f55\u89c1\u75c5\u8f85\u52a9\u8bca\u65ad\uff0c\u662f\u5206\u5b50\u751f\u7269\u5b66\u548c\u9057\u4f20\u5b66\u5728\u4e34\u5e8a\u5b9e\u8df5\u4e2d\u7684\u5178\u8303\u3002\u5728\u4f20\u7edf\u4e34\u5e8a\u8bca\u65ad\u57fa\u7840\u4e0a\uff0c\u7ed3\u5408\u57fa\u56e0\u7b49\u5206\u5b50\u68c0\u6d4b\u548c\u9057\u4f20\u54a8\u8be2\u6765\u8bca\u65ad\u7f55\u89c1\u75c5\uff0c\u8d77\u5230\u4e86\u533b\u7597\u8bca\u7597\u3001\u533b\u5b66\u7814\u7a76\u548c\u5e73\u53f0\u5efa\u8bbe\u7684\u7efc\u5408\u4f5c\u7528\u3002\u6839\u636eKristina Iba\u00f1ez\u56e2\u961f\u5728\u300a\u67f3\u53f6\u5200\u795e\u7ecf\u75c5\u5b66\u300b(The Lancet Neurology)\u6742\u5fd7\u4e0a\u53d1\u8868\u7684\u8bba\u6587\u8868\u660e\uff0c\u5168\u57fa\u56e0\u7ec4\u6d4b\u5e8f\u5728\u8bc6\u522b\u7531\u91cd\u590d\u77ed\u4e32\u8054DNA\u5e8f\u5217\u6570\u91cf\u589e\u52a0\u5f15\u8d77\u7684\u7f55\u89c1\u795e\u7ecf\u7cfb\u7edf\u75be\u75c5\u65b9\u9762\u5177\u6709\u5f88\u9ad8\u7684\u7075\u654f\u5ea6\u548c\u7279\u5f02\u6027\uff0c\u89e3\u51b3\u4e86\u9ad8\u8fbe70%\u7684\u672a\u88ab\u8bca\u65ad\u7684\u7f55\u89c1\u795e\u7ecf\u7cfb\u7edf\u75be\u75c5\u60a3\u8005\u3002\u76ee\u524d\uff0c\u6211\u56fd\u7f55\u89c1\u75c5\u60a3\u8005\u5c31\u533b\u8def\u5f84\u6bd4\u8f83\u66f2\u6298\uff0c\u9700\u8981\u8fdb\u4e00\u6b65\u652f\u6301\u7f55\u89c1\u75c5\u533b\u7597\u4f53\u7cfb\u4ee5\u53ca\u533b\u60a3\u94fe\u63a5\uff0c\u5efa\u7acb\u533b\u7597\u673a\u6784\u7684\u7f55\u89c1\u75c5\u8f85\u52a9\u8bca\u65ad\u4f53\u7cfb\u548c\u591a\u5b66\u79d1\u4f1a\u8bca\uff08MDT\uff09\u4f53\u7cfb\uff0c\u52a0\u5f3a\u9057\u4f20\u54a8\u8be2\u7684\u5b98\u65b9\u8ba4\u5b9a\u4ee5\u53ca\u533b\u7814\u4f01\u7684\u534f\u4f5c\u4ea4\u6d41\u3002\u7f55\u89c1\u75c5\u8f85\u52a9\u8bca\u65ad\u4e3b\u8981\u4ee5\u60a3\u8005\u652f\u4ed8\u4e3a\u4e3b\uff0c\u76ee\u524d\u672a\u7eb3\u5165\u533b\u4fdd\u3002\u5c3d\u7ba1\u6d4b\u5e8f\u6210\u672c\u6709\u6240\u964d\u4f4e\uff0c\u4f46\u76f8\u5bf9\u8f83\u9ad8\u7684\u7efc\u5408\u6210\u672c\u662f\u5927\u591a\u6570\u533b\u60a3\u8003\u8651\u7684\u9996\u8981\u95ee\u9898\u3002\u00a0<\/p>\n<p>\u7f55\u89c1\u75c5\u7684\u6cbb\u7597\u5efa\u7acb\u5728\u7f55\u89c1\u75c5\u8bca\u65ad\u57fa\u7840\u4e0a\u3002\u4ee3\u8c22\u969c\u788d\u7684\u90e8\u5206\u7f55\u89c1\u75c5\u53ef\u4ee5\u901a\u8fc7\u7279\u533b\u98df\u54c1\u6cbb\u7597\uff08\u5177\u4f53\u60c5\u51b5\u4ee5\u533b\u5631\u4e3a\u51c6\uff09\uff1b\u5bf9\u4e8e\u5c11\u6570\u7f55\u89c1\u75c5\uff0c\u53ef\u4ee5\u7528\u5e38\u7528\u836f\u6765\u6539\u5584\uff08\u4f8b\u5982BVVL\u7efc\u5408\u5f81\uff09\uff0c\u5373\u201c\u7f55\u89c1\u75c5\u3001\u5e38\u7528\u836f\u201d\uff1b\u5927\u90e8\u5206\u7f55\u89c1\u75c5\u7684\u6cbb\u7597\u4f9d\u8d56\u7f55\u89c1\u75c5\u9776\u5411\u6cbb\u7597\u836f\u7269\uff0c\u4fd7\u79f0\u5b64\u513f\u836f\uff08Orphan Drug\uff09\u3002<\/p>\n<p>\u57fa\u56e0\u7597\u6cd5\u5728\u7f55\u89c1\u75c5\u6cbb\u7597\u8d77\u7740\u91cd\u8981\u4f5c\u7528\uff0c2020\u5e741\u6708\uff0cFDA\u53d1\u5e03\u300a\u7f55\u89c1\u75c5\u7684\u4eba\u7c7b\u57fa\u56e0\u7597\u6cd5\u6307\u5357\u300b(Human Gene Therapy for Rare Diseases guidance)\u3002\u7b2c\u4e00\u6b3e\u7531EMA\u4e8e2012\u5e74\u6279\u51c6\u7684AAV\u57fa\u56e0\u7597\u6cd5\u5373\u662f\u9488\u5bf9\u7f55\u89c1\u75c5\u8102\u86cb\u767d\u8102\u80aa\u9176\u7f3a\u4e4f\u75c7\uff08\u7531\u8377\u5170\u516c\u53f8uniQure\u7814\u53d1\u7684Glybera\uff09\uff0c\u6211\u56fd\u9996\u4e2a\u5168\u8eab\u7ed9\u7684\u7f55\u89c1\u75c5\u57fa\u56e0\u7597\u6cd5\u57282021\u5e74\u83b7\u6279\u8fdb\u5165\u6ce8\u518c\u4e34\u5e8a\u8bd5\u9a8c\u3002\u6765\u81ea\u4fe1\u81f4\u533b\u836f\u7684BBM-H901\u3002\u76ee\u524d\u5168\u7403\u7f55\u89c1\u75c5\u60a3\u8005\u7684\u6cbb\u7597\u53ef\u53ca\u6027\u4ecd\u5904\u4e8e\u8f83\u4f4e\u6c34\u5e73\uff0c\u4f46\u5728\u9010\u6b65\u63d0\u9ad8\u3002\u57fa\u4e8e\u57fa\u56e0\u6cbb\u7597\u7684\u7f55\u89c1\u75c5\u4e34\u5e8a\u8bd5\u9a8c\u6570\u91cf\u663e\u8457\u63d0\u9ad8\u3002\u622a\u81f32023\u5e74\uff0c\u5168\u7403\u7ea6\u8d85\u8fc7100\u79cd\u83b7\u6279\u7684\u7ec6\u80de\u548c\u57fa\u56e0\u7597\u6cd5\u4ee5\u53ca\u7ea64000\u4e2a\u76f8\u5173\u4e34\u5e8a\u8bd5\u9a8c\u53ca\u4e34\u5e8a\u524d\u7814\u53d1\u7528\u4e8e\u6cbb\u7597\u7f55\u89c1\u75c5\u3002<\/p>\n<div>\u201c\u7f55\u89c1\u75c5\u3001\u5e38\u7528\u836f\u201d\u7684\u6848\u4f8b<\/div>\n<div>\uff08\u6458\u5f55\u81ea\u6587\u732e\u53ca\u516c\u5f00\u62a5\u9053\uff0c\u4ec5\u4f9b\u7814\u7a76\u53c2\u8003\uff0c\u4e0d\u4f5c\u4e3a\u4e34\u5e8a\u4f9d\u636e\uff09<\/div>\n<p>\u636e2015\u5e74\u6587\u732e\u62a5\u9053\uff0c\u4e00\u540d20\u4e2a\u6708\u7684\u5973\u7ae5\uff0c\u6700\u521d\u8868\u73b0\u4e3a\u773c\u7403\u9707\u98a4\u548c\u5171\u6d4e\u5931\u8c03\uff0c\u968f\u540e\u53d1\u5c55\u4e3a\u4e0a\u81c2\u5f1b\u7f13\u6027\u9ebb\u75f9\u548c\u9888\u90e8\u808c\u8089\u65e0\u529b\uff0c\u5728\u9996\u6b21\u51fa\u73b0\u75c7\u72b6\u76845\u4e2a\u6708\u5185\uff0c\u901a\u8fc7\u5916\u663e\u5b50\u7ec4\u6d4b\u5e8f\u68c0\u6d4b\u5230SLC52A2\u57fa\u56e0\u76f8\u5173\u7684\u4e24\u79cd\u529f\u80fd\u6027\u53d8\u5f02\uff0c\u786e\u8bca\u4e3aBVVL\u7efc\u5408\u5f81\u3002\u540e\u6765\u75c5\u60c5\u6076\u5316\uff0c\u51fa\u73b0\u9891\u7e41\u6d41\u53e3\u6c34\u548c\u541e\u54bd\u56f0\u96be\uff0c\u7acb\u5373\u7ed9\u4e88\u6838\u9ec4\u7d20\uff08\u53c8\u79f0\u4e3a\u7ef4\u751f\u7d20B2\uff09\u6cbb\u7597\uff0c\u5728\u6700\u521d\u76842-4\u5468\u5185\uff0c\u4e34\u5e8a\u4e0a\u8fc5\u901f\u5f97\u5230\u53cd\u9988\uff0c\u4f53\u5f81\u548c\u75c7\u72b6\u7a33\u5b9a\u3002\u5728\u63a5\u4e0b\u6765\u76848\u4e2a\u6708\u7684\u4e34\u5e8a\u968f\u8bbf\u4e2d\u8868\u73b0\u7a33\u5b9a\uff0c\u76f8\u5173\u75c7\u72b6\u6301\u7eed\u6539\u5584\u3002\uff08Vandana Shashi\uff0cCold Spring Harb Mol Case Stud\uff0c2015\uff09<\/p>\n<p>\u636e2017\u5e74\u6587\u732e\u62a5\u9053\uff0c\u4e00\u540d6\u5c81\u5973\u5b69\uff0c\u901a\u8fc7\u57fa\u56e0\u68c0\u6d4b\u53d1\u73b0SLC52A3\u57fa\u56e0C .1156t &gt;C\u65b0\u578b\u7eaf\u5408\u7a81\u53d8\uff0c\u88ab\u786e\u8bca\u4e3aBVVL\u7efc\u5408\u5f81\uff0c\u5979\u57282.5\u5c81\u65f6\u8868\u73b0\u4e3a\u8fdb\u884c\u6027\u8111\u5e72\u529f\u80fd\u969c\u788d\uff0c\u5305\u62ec\u4e0a\u7751\u4e0b\u5782\u3001\u9762\u90e8\u65e0\u529b\u3001\u542c\u529b\u4e27\u5931\u3001\u541e\u54bd\u56f0\u96be\u3001\u53cc\u4fa7\u58f0\u5e26\u9ebb\u75f9\u3001\u65e0\u97f3\u548c\u5171\u6d4e\u5931\u8c03\u6b65\u6001\u3002\u968f\u540e\u51fa\u73b0\u547c\u5438\u8870\u7aed\uff0c\uff0c\u541e\u54bd\u56f0\u96be\u6076\u5316\u3002\u8865\u5145\u6838\u9ec4\u7d20\u540e\uff0c\u9762\u90e8\u622a\u762b\u548c\u5171\u6d4e\u5931\u8c03\u5f97\u5230\u7f13\u89e3\uff0c\u4e0a\u7751\u4e0b\u5782\u5f97\u5230\u6539\u5584\uff0c\u53d1\u58f0\u548c\u547c\u5438\u529f\u80fd\u5f97\u5230\u6539\u5584\uff0c\u4f46\u611f\u97f3\u795e\u7ecf\u6027\u542c\u529b\u635f\u5931\u6ca1\u6709\u6539\u53d8\u3002\u603b\u4f53\u4e0a\u795e\u7ecf\u529f\u80fd\u660e\u663e\u6062\u590d\uff0c\u4f46\u672a\u5b8c\u5168\u6062\u590d\u3002\uff08Venkatraman Thulasi,Child Neurol Open\uff0c2017\uff09<\/p>\n<p>\u636e\u6211\u56fd\u5b98\u65b9\u5a92\u4f53\u516c\u5f00\u62a5\u9053\uff0c2021\u5e74\u4e1c\u839e\u5e02\u513f\u7ae5\u533b\u9662\u51fa\u73b0\u901a\u8fc7\u7ef4\u751f\u7d20B2\u6cbb\u75974\u5c81\u7537\u7ae5\u57fa\u56e0SLC52A2\u53d8\u5f02\u7684\u4e34\u5e8a\u6848\u4f8b\u3002BVVL(Brown-Vialetto-Van Laere)\u7efc\u5408\u5f81\u662f\u4e00\u79cd\u4ee5\u8fd0\u52a8\u3001\u611f\u89c9\u548c\u9885\u795e\u7ecf\u75c5\u53d8\u4e3a\u7279\u5f81\u7684\u7f55\u89c1\u75be\u75c5\uff0c\u4e0eSLC52A2\u548cSLC52A3\u57fa\u56e0\u7a81\u53d8\u6709\u5173\uff0c\u8fd9\u4e24\u4e2a\u57fa\u56e0\u5206\u522b\u7f16\u7801\u4eba\u7c7b\u6838\u9ec4\u7d20\u8f6c\u8fd0\u4f53RFVT2\u548cRFVT3\u3002<\/p>\n<p>\u5b64\u513f\u836f\u662f\u7f55\u89c1\u75c5\u6cbb\u7597\u7684\u4e3b\u8981\u8def\u5f84\u3002\u56e0\u4e3a\u540c\u4e00\u7c7b\u75c5\u79cd\u7684\u4eba\u6570\u5c11\uff0c\u9700\u8981\u9488\u5bf9\u6027\u6cbb\u7597\uff0c\u53d7\u4f17\u6d88\u8d39\u4e0d\u8db3\u4ee5\u8986\u76d6\u5e38\u89c4\u836f\u7269\u5f00\u53d1\u6210\u672c\uff0c\u56e0\u6b64\u5f97\u5230\u5168\u7403\u591a\u4e2a\u56fd\u5bb6\u548c\u5730\u533a\u7684\u4f18\u60e0\u653f\u7b56\uff0c\u5305\u62ec\u5feb\u901f\u901a\u9053\u83b7\u6279\u3001\u5b64\u513f\u836f\u7814\u53d1\u5e02\u573a\u72ec\u5360\u671f\u3001\u7a0e\u6536\u62b5\u514d\u3001\u4f18\u5148\u533b\u4fdd\u8986\u76d6\u7b49\u3002<\/p>\n<p>\u8fd1\u5e74\uff0c\u4ece\u6279\u51c6\u6570\u91cf\u53ca\u7eb3\u5165\u533b\u4fdd\u7b49\u65b9\u9762\uff0c\u5b64\u513f\u836f\uff08\u7f55\u89c1\u75c5\u76f8\u5173\u836f\u7269\uff09\u83b7\u5f97\u5927\u529b\u63a8\u52a8\u3002\u81ea1981\u5e74\uff0cFDA\u7d2f\u8ba1\u6279\u51c6\u4e0a\u5e02\u7684\u5b64\u513f\u836f\u603b\u8ba1526\u79cd\uff0c2023\u5e74\u6279\u51c6\u768455\u79cd\u65b0\u836f\u4e2d\u5b64\u513f\u836f\u536051%\u3002\u6211\u56fd\u622a\u81f32023\u5e743\u67081\u65e5\uff0c\u517169\u79cd\u7f55\u89c1\u75c5\u836f\u7269\u7eb3\u5165\u56fd\u5bb6\u533b\u4fdd\u76ee\u5f55\u5e76\u5728\u62a5\u9500\u8303\u56f4\u5185\uff0c\u8986\u76d629\u79cd\u7f55\u89c1\u75c5\u3002\u622a\u81f32022\u5e7412\u670831\u65e5\uff0c\u83b7\u7f8e\u56fdFDA\u6216\u6b27\u76dfEMA\u6279\u51c6\u4e14\u5728NMPA\u83b7\u6279\u4e0a\u5e02\u7684\u5b64\u513f\u836f\uff0c\u4ee5\u53ca\u56fd\u5185\u836f\u54c1\u8bf4\u660e\u4e66\u6279\u51c6\u7f55\u89c1\u75c5\u9002\u5e94\u8bc1\u7684\u836f\u7269\uff0c\u5171\u8ba1116\u79cd\uff0c\u8986\u76d653\u79cd\u7f55\u89c1\u75c5\u3002\u56fd\u5bb6\u533b\u4fdd\u836f\u54c1\u76ee\u5f552024\u5e74\u65b0\u589e\u7f55\u89c1\u75c5\u7528\u836f15\u79cd\uff08\u5360\u6240\u6709\u836f\u7269\u6bd4\u4f8b12%\uff09\u3002<\/p>\n<p>\u6211\u56fd\u5b64\u513f\u836f\u7684\u5f00\u53d1\u4e0e\u5168\u7403\u5148\u8fdb\u6c34\u5e73\u6709\u8f83\u5927\u5dee\u8ddd\uff0c\u4f46\u8fd1\u5e74\u83b7\u5f97\u8f83\u5feb\u53d1\u5c55\u3002\u57282023\u5e74\u83b7\u5f97FDA\u6388\u4e88\u7684\u5b64\u513f\u836f\u8ba4\u5b9a\uff08\u5728\u5f00\u53d1\u4e2d\uff09\u7684\u521b\u65b0\u836f376\u79cd\u4e2d\uff0c\u6211\u56fd\u521b\u65b0\u836f\u7ea6\u536014%\uff08\u6309\u54c1\u79cd\u8ba153\u79cd\uff09\u3002\u4e3a\u52a9\u529b\u7f55\u89c1\u75be\u75c5\u836f\u7269\u4e34\u5e8a\u7814\u53d1\uff0c2024\u5e745\u6708\uff0c\u56fd\u5bb6\u836f\u54c1\u76d1\u7763\u7ba1\u7406\u5c40\u836f\u5ba1\u4e2d\u5fc3\u53d1\u5e03\u300a\u5728\u7f55\u89c1\u75be\u75c5\u836f\u7269\u4e34\u5e8a\u7814\u53d1\u4e2d\u5e94\u7528\u53bb\u4e2d\u5fc3\u5316\u4e34\u5e8a\u8bd5\u9a8c\u7684\u6280\u672f\u6307\u5bfc\u539f\u5219\u300b\uff0c\u63d0\u53ca\u6570\u5b57\u5065\u5eb7\u6280\u672f\uff08DHT\uff09\uff0c\u5373\u5728\u836f\u7269\u4e34\u5e8a\u8bd5\u9a8c\u4e2d\uff0c\u53ef\u901a\u8fc7\u5e94\u7528\u79fb\u52a8\u533b\u7597\u6216\u8fdc\u7a0b\u76d1\u62a4\u8bbe\u5907\u5b9e\u73b0\u5bf9\u53d7\u8bd5\u8005\u7684\u6cbb\u7597\u6216\u4fe1\u606f\u7684\u8fdc\u7a0b\u6536\u96c6\u3002<\/p>\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter\"><img decoding=\"async\" src=\"https:\/\/www.geneclub.net.cn\/wp-content\/uploads\/images\/RmFicvQBAkgAZnLkDe7uhjxzfJygsrK2LDK7Fhu4BWz1qpEOv8Sibyy38JqCseCDlgDMrEiabf5ia0HyQ5Sn4NnMWQ.png\" alt=\"RmFicvQBAkgAZnLkDe7uhjxzfJygsrK2LDK7Fhu4BWz1qpEOv8Sibyy38JqCseCDlgDMrEiabf5ia0HyQ5Sn4NnMWQ\"\/><\/figure><\/div>\n\n<\/p>\n<p>\u56fe\uff1a1981-2023\u5e74FDA\u6279\u51c6\u7684\u5b64\u513f\u836f\u6570\u91cf\uff08\u6765\u6e90\/\u57fa\u56e0\u6167\u300a\u57fa\u56e0\u884c\u4e1a\u84dd\u76ae\u4e66\u300b\uff09<\/p>\n<\/p>\n<p>\u5168\u7403\u8fd1\u5e74\u52a0\u901f\u5efa\u7acb\u7f55\u89c1\u75c5\u534f\u4f5c\u7f51\u7edc\u53ca\u767b\u8bb0\u7cfb\u7edf\uff08\u5176\u4e2d\u90e8\u5206\u60c5\u51b5\u628a\u7f55\u89c1\u75c5\u7b49\u540c\u4e8e\u8bca\u65ad\u4e0d\u660e\u75be\u75c5\uff0c\u5373Undiagnosed Diseases\uff09\u3002\u5728\u6211\u56fd\uff0c\u7531\u4e2d\u56fd\u533b\u5b66\u79d1\u5b66\u9662\u5317\u4eac\u534f\u548c\u533b\u9662\u7275\u5934\uff0c419\u5bb6\u533b\u9662\u53c2\u4e0e\u5efa\u7acb\u7684\u5168\u56fd\u7f55\u89c1\u75c5\u8bca\u7597\u534f\u4f5c\u7f51\u5df2\u767b\u8bb0\u7f55\u89c1\u75c5\u75c5\u4f8b79\u4e07\u4f59\u4f8b\u30022016\u5e74\uff0c\u300a\u4e0a\u6d77\u5e02\u4e3b\u8981\u7f55\u89c1\u75c5\u540d\u5f55\uff082016\u5e74\u534a\uff09\u300b\u53d1\u5e03\uff1b\u300a\u7b2c\u4e00\u6279\u7f55\u89c1\u75c5\u76ee\u5f55\u300b\u548c\u300a\u7b2c\u4e8c\u6279\u7f55\u89c1\u75c5\u76ee\u5f55\u300b\u5148\u540e\u4e8e2018\u30012023\u5e74\u53d1\u5e03\uff0c\u5171\u8986\u76d6207\u79cd\u7f55\u89c1\u75c5\uff08\u76ee\u5f55\u89c1\u672c\u84dd\u76ae\u4e66\u9644\u5f55\uff09\u3002\u57282007-2020\u5e74\u671f\u95f4\uff0c\u6b27\u76df\u6839\u636e\u201cFP7\u201d\u548c\u201c\u5730\u5e73\u7ebf2020\u201d\u9879\u76ee\u8ba1\u5212\uff0c\u5411\u7f55\u89c1\u75c5\u9886\u57df\u7684550\u591a\u4e2a\u8de8\u56fd\u7814\u7a76\u9879\u76ee\u8d44\u52a932\u4ebf\u591a\u6b27\u5143\uff0c\u5e76\u9884\u8ba12024\u5e749\u6708\u542f\u52a8\u6b27\u6d32\u7f55\u89c1\u75c5\u4f19\u4f34\u5173\u7cfb\u3002\u6b27\u76df\u59d4\u5458\u4f1a\u8054\u5408\u7f8e\u56fd\u56fd\u7acb\u536b\u751f\u7814\u7a76\u9662\u4e8e2011\u5e74\u53d1\u8d77\u56fd\u9645\u7f55\u89c1\u75c5\u7814\u7a76\u8054\u76df\uff08IRDiRC\uff09\uff0c\u539f\u8ba1\u5212\u57282020\u5e74\u5f00\u53d1200\u79cd\u65b0\u7597\u6cd5\u548c\u8bca\u65ad\u63d0\u9ad8\u8bca\u65ad\u6548\u7387\u3002\u5176\u4e2d\uff0c200\u79cd\u65b0\u7597\u6cd5\u5f00\u53d1\u6bd4\u8ba1\u5212\u63d0\u524d\u4e09\u5e74\u4e8e2017\u5e74\u5b9e\u73b0\u3002<\/p>\n<\/p>\n<p>\u9664\u4e86\u79d1\u7814\u9662\u6821\u3001\u533b\u7597\u673a\u6784\u548c\u4f01\u4e1a\u4e4b\u5916\uff0c\u7f55\u89c1\u75c5\u516c\u76ca\u7ec4\u7ec7\u548c\u516c\u76ca\u4eba\u58eb\u5728\u7f55\u89c1\u75c5\u9886\u57df\u53d1\u6325\u7740\u91cd\u8981\u7684\u4f5c\u7528\uff0c\u901a\u8fc7\u7f55\u89c1\u75c5\u60a3\u8005\u6559\u80b2\u3001\u75c5\u53cb\u7ec4\u7ec7\u8054\u7edc\u3001\u77e5\u8bc6\u79d1\u666e\u57f9\u8bad\u3001\u57fa\u91d1\u4f1a\u7b49\uff0c\u63a8\u52a8\u4e86\u7f55\u89c1\u75c5\u7684\u8ba4\u77e5\u3001\u8bca\u7597\u3001\u7814\u7a76\u3001\u653f\u7b56\u5236\u5b9a\u4ee5\u53ca\u4ea7\u5b66\u7814\u7528\u534f\u4f5c\u3002\u76f8\u5173\u7ec4\u7ec7\u53ca\u673a\u6784\u53d1\u8d77\u7684\u7f55\u89c1\u75c5\u516c\u76ca\u9879\u76ee\u6781\u5927\u5730\u5524\u8d77\u6c11\u4f17\u53ca\u51b3\u7b56\u8005\u5bf9\u4e8e\u7f55\u89c1\u75c5\u7684\u91cd\u89c6\u53ca\u4e86\u89e3\u3002\u4f8b\u5982\u6b27\u6d32\u7f55\u89c1\u75c5\u7ec4\u7ec7\uff08EURODIS\uff09\u81ea2008\u5e74\u8d77\u53d1\u8d77\u7684\u201c\u56fd\u9645\u7f55\u89c1\u75c5\u65e5\u201d\uff0c\u6211\u56fd\u74f7\u5a03\u5a03\u7f55\u89c1\u75c5\u5173\u7231\u4e2d\u5fc3\u53d1\u8d77\u4e2d\u56fd\u7248\u7684\u201c\u51b0\u6876\u6311\u6218\u8d5b\u201d\uff0c\u8521\u78ca\u548c\u6bb5\u777f\u53d1\u8d77\u7684\u201c\u6625\u857e\u8ba1\u5212\u201d\u7b49\u3002<\/p>\n<\/p>\n<p>\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter\"><img decoding=\"async\" src=\"https:\/\/www.geneclub.net.cn\/wp-content\/uploads\/images\/RmFicvQBAkgAZnLkDe7uhjxzfJygsrK2Lq93e4X1ricmh2rclia9OaWt5icNFHwrbG3WcicdLBKqtL9wJb1mt3rO8sg.png\" alt=\"RmFicvQBAkgAZnLkDe7uhjxzfJygsrK2Lq93e4X1ricmh2rclia9OaWt5icNFHwrbG3WcicdLBKqtL9wJb1mt3rO8sg\"\/><\/figure><\/div>\n\n<\/p>\n<p>\n\n\n<figure class=\"wp-block-image\"><img decoding=\"async\" src=\"https:\/\/www.geneclub.net.cn\/wp-content\/uploads\/images\/RmFicvQBAkgAZnLkDe7uhjxzfJygsrK2LmlVshn33yciaIIKC6kgmNfPFZFRVd7StOp3iaNFtlQWRacQmCmcte8jw.png\" alt=\"RmFicvQBAkgAZnLkDe7uhjxzfJygsrK2LmlVshn33yciaIIKC6kgmNfPFZFRVd7StOp3iaNFtlQWRacQmCmcte8jw\"\/><\/figure>\n\n\n<\/p>\n<p>\u56fe\uff1a\u7f55\u89c1\u75c5\u76f8\u5173\u7684\u516c\u76ca\u7ec4\u7ec7\u4e3e\u4f8b\uff08\u6765\u6e90\/\u57fa\u56e0\u6167\u300a\u57fa\u56e0\u884c\u4e1a\u84dd\u76ae\u4e66\u300b\uff09<\/p>\n<\/p>\n<p>\uff08\u56db\uff09\u6280\u672f<\/p>\n<p>\u8fd9\u90e8\u5206\u4e3b\u8981\u8c08\u4e0e\u7f55\u89c1\u75c5\u8f85\u52a9\u8bca\u65ad\u76f8\u5173\u7684\u4e09\u9879\u6280\u672f\uff0c\u9057\u4f20\u54a8\u8be2\u3001\u8868\u578b\u548c\u57fa\u56e0\u68c0\u6d4b\u3002\uff08\u57fa\u56e0\u6cbb\u7597\u6280\u672f\u89c1\u672c\u84dd\u76ae\u4e66\u5176\u4ed6\u7ae0\u8282\uff09\u00a0<\/p>\n<p>\u7531\u4e8e\u5e38\u5e38\u8868\u73b0\u7f55\u89c1\u75c5\u7684\u7efc\u5408\u5f81\u4ee5\u53ca\u53ef\u80fd\u4f34\u968f\u5bb6\u65cf\u53f2\uff0c\u7f55\u89c1\u75c5\u8bca\u65ad\u4e2d\u9057\u4f20\u54a8\u8be2\uff08genetic counseling\uff09\u975e\u5e38\u91cd\u8981\u3002\u9057\u4f20\u54a8\u8be2\u662f\u4e00\u9879\u4e13\u4e1a\u5b66\u79d1\u548c\u5c97\u4f4d\uff0c\u6307\u7efc\u5408\u533b\u5b66\u53ca\u9057\u4f20\u77e5\u8bc6\uff0c\u57fa\u4e8e\u4e34\u5e8a\u548c\u9057\u4f20\u68c0\u6d4b\u7ed3\u679c\uff0c\u4e0e\u54a8\u8be2\u8005\u5c31\u9057\u4f20\u75c5\u7684\u75c5\u56e0\u3001\u9057\u4f20\u65b9\u5f0f\u3001\u8bca\u65ad\u3001\u6cbb\u7597\u3001\u9884\u9632\u3001\u590d\u53d1\u98ce\u9669\u7b49\u8fdb\u884c\u5145\u5206\u7684\u4fe1\u606f\u4ea4\u6d41\u548c\u4e13\u4e1a\u6307\u5bfc\u3002\u9057\u4f20\u54a8\u8be2\u4f53\u7cfb\u901a\u5e38\u7531\u4e34\u5e8a\u9057\u4f20\u533b\u5e08\uff08\u7b7e\u53d1\u5904\u65b9\uff09\u3001\u4e34\u5e8a\u5b9e\u9a8c\u5ba4\u9057\u4f20\u5b66\u5bb6\uff08\u7b7e\u53d1\u4e34\u5e8a\u9057\u4f20\u68c0\u6d4b\u62a5\u544a\uff09\u6216\u5206\u5b50\u75c5\u7406\u5b9e\u9a8c\u5ba4\u9057\u4f20\u5b66\u5bb6\uff08\u7b7e\u53d1\u5206\u5b50\u9057\u4f20\u75c5\u7406\u68c0\u6d4b\u62a5\u544a\uff09\u548c\u9057\u4f20\u54a8\u8be2\u5e08\uff08\u8fde\u63a5\u4e34\u5e8a\u548c\u5b9e\u9a8c\u5ba4\uff09\u6765\u7ec4\u6210\u3002\u00a0<\/p>\n<\/p>\n<p>\u7f8e\u56fd\u7b49\u81ea80\u5e74\u4ee3\u521d\u671f\u5f00\u59cb\uff0c\u5f62\u6210\u5305\u62ec\u5b66\u4f4d\u6559\u80b2\u3001\u7ee7\u7eed\u6559\u80b2\u3001\u57f9\u8bad\u548c\u4e13\u4e1a\u8d44\u683c\u8ba4\u5b9a\uff08\u533b\u5b66\u9057\u4f20\u5b66\u4e0e\u57fa\u56e0\u7ec4\u5b66\u4f1a\u8d44\u8d28\u59d4\u5458\u4f1a\uff08ABMGG\uff09\u8ba4\u5b9a\uff09\u5728\u5185\u7684\u9057\u4f20\u54a8\u8be2\u4f53\u7cfb\uff1b\u6211\u56fd\u81ea2014\u5e74\u53d1\u5e03\u7684\u300a\u4f4f\u9662\u533b\u5e08\u89c4\u8303\u5316\u57f9\u8bad\u7ba1\u7406\u529e\u6cd5\u300b\u5f00\u59cb\u5c06\u533b\u5b66\u9057\u4f20\u5b66\u7eb3\u5165\u4f4f\u9662\u533b\u5e08\u89c4\u8303\u5316\u57f9\u8bad\u7ba1\u7406\u4f53\u7cfb\u3002\u81ea2015\u5e74\uff0c\u5728\u76f8\u5173\u4e13\u5bb6\u4ee5\u53ca\u673a\u6784\u7684\u7ec4\u7ec7\u4e0b\u5f00\u5c55\u9057\u4f20\u54a8\u8be2\u57f9\u8bad\u3002\u76ee\u524d\u6211\u56fd\u9057\u4f20\u54a8\u8be2\u4e3b\u8981\u6709\u5177\u6709\u9057\u4f20\u5b66\u80cc\u666f\u7684\u4e34\u5e8a\u533b\u751f\u6765\u517c\u5f53\uff0c\u672a\u6765\u9700\u8fdb\u4e00\u6b65\u5efa\u7acb\u9057\u4f20\u54a8\u8be2\u7684\u89c4\u8303\u6307\u5357\u3001\u5b8c\u5584\u8ba4\u8bc1\u4f53\u7cfb\u548c\u653f\u7b56\u652f\u6301\uff0c\u63d0\u9ad8\u533b\u7597\u673a\u6784\u5bf9\u9057\u4f20\u54a8\u8be2\u7684\u91cd\u89c6\uff0c\u52a0\u5f3a\u4ea7\u5b66\u7814\u534f\u4f5c\u548c\u4ea4\u6d41\u3002\u00a0<\/p>\n<\/p>\n<p>\u5728\u8fdb\u884c\u57fa\u56e0\u68c0\u6d4b\u524d\uff0c\u89c2\u6d4b\u548c\u660e\u786e\u4e3b\u8981\u7684\u4f53\u5f81\u53ca\u5176\u5bf9\u5e94\u7684\u57fa\u56e0\u578b\u975e\u5e38\u5173\u952e\u3002\u5173\u952e\u4f53\u5f81\u7684\u4e34\u5e8a\u8868\u8ff0\u5373\u8868\u578b\uff08phenotype\uff09\uff0c\u76f8\u5bf9\u4e8e\u57fa\u56e0\u578b(genotype)\u800c\u8a00\uff0c\u7ecf\u5386\u4e86\u4ece\u4e3b\u89c2\u89c2\u6d4b\u5230\u5ba2\u89c2\u91cf\u5316\uff0c\u4ece\u5927\u7c7b\u5230\u7ec6\u5206\u4e9a\u578b\u3002\u76ee\u524d\u4e3b\u8981\u5e94\u7528 HPO \u4e3a\u4ee3\u8868\u7684\u8868\u578b\u6807\u51c6\u5316\u672f\u8bed\u3002HPO\u3001GeneReviews\u7b49\u56fd\u9645\u77e5\u540d\u7684\u8868\u578b\u76f8\u5173\u6570\u636e\u5e93\u5728\u516c\u76ca\u4eba\u58eb\u53ca\u76f8\u5173\u673a\u6784\u7275\u5934\u4e0b\u6c49\u5316\uff0c\u4fc3\u8fdb\u4e34\u5e8a\u57fa\u56e0\u68c0\u6d4b\u7684\u5e94\u7528\u3002<\/p>\n<\/p>\n<p>\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter\"><img decoding=\"async\" src=\"https:\/\/www.geneclub.net.cn\/wp-content\/uploads\/images\/RmFicvQBAkgAZnLkDe7uhjxzfJygsrK2Lzg8gWOpa6IyuAoXsDBV0nCCO53n9KgcxxnPBLnOaX3fibQ7s1ibicVZyw.png\" alt=\"RmFicvQBAkgAZnLkDe7uhjxzfJygsrK2Lzg8gWOpa6IyuAoXsDBV0nCCO53n9KgcxxnPBLnOaX3fibQ7s1ibicVZyw\"\/><\/figure><\/div>\n\n<\/p>\n<p>\n\n\n<figure class=\"wp-block-image\"><img decoding=\"async\" src=\"https:\/\/www.geneclub.net.cn\/wp-content\/uploads\/images\/RmFicvQBAkgAZnLkDe7uhjxzfJygsrK2LIluAevE58yQSgt8RQtvlQu6LyRTd7RPX0HywcNiactwiaTCCj4ez9RHg.png\" alt=\"RmFicvQBAkgAZnLkDe7uhjxzfJygsrK2LIluAevE58yQSgt8RQtvlQu6LyRTd7RPX0HywcNiactwiaTCCj4ez9RHg\"\/><\/figure>\n\n\n<p style=\"text-align: center;\">\u56fe\uff1a\u7f55\u89c1\u75c5\u76f8\u5173\u7684\u91cd\u8981\u6570\u636e\u5e93\u4e3e\u4f8b\uff08\u6765\u6e90\/\u57fa\u56e0\u6167\u300a\u57fa\u56e0\u884c\u4e1a\u84dd\u76ae\u4e66\u300b\uff09<\/p>\n<p>\u5728\u9057\u4f20\u54a8\u8be2\u540e\uff0c\u901a\u8fc7\u6d4b\u5e8f\u7b49\u6280\u672f\u8fdb\u884c\u57fa\u56e0\u68c0\u6d4b\uff0c\u7ecf\u8fc7\u751f\u7269\u4fe1\u606f\u5206\u6790\uff0c\u4e34\u5e8a\u533b\u751f\u518d\u7ed3\u5408\u8868\u578b\u3001\u4e34\u5e8a\u4fe1\u606f\u53ca\u76f8\u5173\u6307\u5357\u5bf9\u75be\u75c5\u76f8\u5173\u57fa\u56e0\u53ca\u4f4d\u70b9\u8fdb\u4e00\u6b65\u8fc7\u6ee4\u548c\u8bc4\u4f30\uff0c\u6765\u51fa\u57fa\u56e0\u68c0\u6d4b\u62a5\u544a\u3002<\/p>\n<p>\u5728\u7f55\u89c1\u75c5\u8bca\u65ad\u73af\u8282\uff0c\u57fa\u56e0\u68c0\u6d4b\u4fc3\u8fdb\u4e86\u7f55\u89c1\u75c5\u8bca\u65ad\uff0c\u4f46\u76ee\u524d\u9636\u6bb5\u8d77\u7684\u662f\u8f85\u52a9\u8bca\u65ad\u4f5c\u7528\uff0c\u76ee\u524d\u6838\u5fc3\u68c0\u9a8c\u4f9d\u8d56\u4e8e\u4ece\u5206\u5b50\u3001\u4ee3\u8c22\u7269\u3001\u7ec6\u80de\u3001\u7ec4\u7ec7\u7b49\u4e0d\u540c\u7ef4\u5ea6\u4e3a\u7f55\u89c1\u75c5\u60a3\u8005\u63d0\u4f9b\u68c0\u9a8c\u670d\u52a1\u3002\u53c2\u8003\u300a\u56fd\u5bb6\u7f55\u89c1\u75c5\u533b\u5b66\u4e2d\u5fc3\u8bbe\u7f6e\u6807\u51c6\u300b\uff0c\u7f55\u89c1\u75c5\u76f8\u5173\u7684\u533b\u5b66\u68c0\u9a8c\u53ca\u57fa\u56e0\u68c0\u6d4b\u6280\u672f\u5305\u62ec\u5982\u4e0b\u79cd\u7c7b\u3002<\/p>\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter\"><img decoding=\"async\" src=\"https:\/\/www.geneclub.net.cn\/wp-content\/uploads\/images\/RmFicvQBAkgAZnLkDe7uhjxzfJygsrK2LjehJNrq3NG1uPat15sPyQGEOltO0GiavicVFjHS65TFz6IoQKpl1QOSw.png\" alt=\"RmFicvQBAkgAZnLkDe7uhjxzfJygsrK2LjehJNrq3NG1uPat15sPyQGEOltO0GiavicVFjHS65TFz6IoQKpl1QOSw\"\/><\/figure><\/div>\n\n<\/p>\n<p>\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter\"><img decoding=\"async\" src=\"https:\/\/www.geneclub.net.cn\/wp-content\/uploads\/images\/RmFicvQBAkgAZnLkDe7uhjxzfJygsrK2LUEg6nkVXI0Cibv7f1rQaibCKwantVGNfmicDe8YZjCtlDAj2t9AXjcwicQ.png\" 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\u4ebf\u7f8e\u5143\u7684\u7ec6\u80de\u548c\u57fa\u56e0\u6cbb\u7597\u8bb8\u53ef\u534f\u8bae\u3002\u6211\u56fd\u57fa\u56e0\u6cbb\u7597\u751f\u7269\u4f01\u4e1a\u805a\u7126\u7684\u7f55\u89c1\u75c5\u65b9\u5411\u5305\u62ec\uff1a\u5730\u4e2d\u6d77\u8d2b\u8840\u3001\u8840\u53cb\u75c5\u3001\u773c\u79d1\u75be\u75c5\u3001\u513f\u7ae5\u795e\u7ecf\u53d1\u80b2\u969c\u788d\u75be\u75c5\u7b49\u3002<\/p>\n<\/p>\n<p>\u5728\u7f55\u89c1\u75c5\u8bca\u7597\u9886\u57df\uff0c\u672a\u6765\u5efa\u8bae\u5173\u6ce8\u4ee5\u4e0b\u65b9\u9762\u3002<\/p>\n<\/p>\n<p>\u6280\u672f\u5c42\u9762\uff1a\u76ee\u524dWES\u7b49\u57fa\u56e0\u6d4b\u5e8f\u6280\u672f\u5728\u7f55\u89c1\u75c5\u8f85\u52a9\u8bca\u65ad\u7684\u4ef7\u503c\u5df2\u83b7\u5f97\u4e34\u5e8a\u5171\u8bc6\uff0c\u4f46\u4ef7\u683c\u662f\u963b\u788d\u666e\u60e0\u5e94\u7528\u7684\u9996\u8981\u56e0\u7d20\u3002\u636e\u57fa\u56e0\u6167\u4e86\u89e3\uff0c\u76ee\u524d\u5bb6\u7cfbWES\u7ea610,000\u5143\u4eba\u6c11\u5e01\uff0c\u5f80\u5f80\u8fd8\u9700\u8981CMA\u8f85\u52a9\u7ea63,000\u5143\uff08\u4e0d\u540c\u5730\u533a\u75c5\u60c5\u4e0d\u540c\u6d4b\u5e8f\u5e73\u53f0\u5c06\u6709\u6240\u4e0d\u540c\uff09\uff0c\u76f8\u5f53\u4e8e\u4e00\u4e2a\u4e2d\u56fd\u5c45\u6c11\u56db\u4e2a\u6708\u7684\u53ef\u652f\u914d\u6536\u5165\uff08\u56fd\u5bb6\u7edf\u8ba1\u5c40\u516c\u5e032023\u5e74\u5168\u56fd\u5c45\u6c11\u4eba\u5747\u53ef\u652f\u914d\u6536\u516539218\u5143\uff09\uff0c\u4ece\u666e\u60e0\u89d2\u5ea6\u81f3\u5c11\u9700\u8981\u964d\u4f4e\u81f31\/4\u3002\u6b64\u5916\uff0c\u5355\u5206\u5b50\uff08\u53c8\u4fd7\u79f0\u4e3a\u4e09\u4ee3\u6d4b\u5e8f\uff09\u6b63\u5feb\u901f\u8d70\u5411\u4e34\u5e8a\u5e94\u7528\uff0c\u56fd\u5185\u4ee3\u8868\u6027\u68c0\u9a8c\u673a\u6784\u5305\u62ec\u5e0c\u671b\u7ec4\u7b49\u3002\u540c\u65f6\uff0c\u7f55\u89c1\u75c5\u7b5b\u67e5\u9700\u7ed3\u5408\u751f\u547d\u4f26\u7406\u7b49\u8c28\u614e\u5b9e\u65bd\u3002<\/p>\n<\/p>\n<p>\u6a21\u5f0f\u5c42\u9762\uff1a2021\u5e74\uff0c\u5728\u8054\u5408\u56fd\u5927\u4f1a\u7b2c76\u5c4a\u4f1a\u8bae\u5ba1\u8bae\u901a\u8fc7\u7684\u51b3\u8bae\u300a\u5e94\u5bf9\u7f55\u89c1\u75be\u75c5\u60a3\u8005\u53ca\u5176\u5bb6\u4eba\u9762\u4e34\u7684\u6311\u6218\u300b\u4e2d\uff0c\u63d0\u5230\u7f55\u89c1\u75c5\u9700\u8981\u4e0e\u56fd\u5bb6\u5b9e\u73b0\u5168\u6c11\u5065\u5eb7\u8986\u76d6\u7684\u4fdd\u6301\u4e00\u81f4\uff0c\u901a\u8fc7\u793e\u4f1a\u652f\u6301\u786e\u4fdd\u60a3\u8005\u7684\u516c\u5e73\u5c31\u533b\u3002\u7f55\u89c1\u75c5\u7684\u53d1\u5c55\u79bb\u4e0d\u5f00\u4ea7\u5b66\u7814\u7528\u7684\u534f\u4f5c\uff0c\u5efa\u8bae\u5728\u5df2\u6709\u7684\u516c\u76ca\u57fa\u91d1\u4f1a\u652f\u6301\u3001\u4e34\u5e8a\u673a\u6784\u7ec4\u6210\u7684\u7f55\u89c1\u75c5\u534f\u4f5c\u7f51\u7edc\u57fa\u7840\u4e0a\uff0c\u8fdb\u4e00\u6b65\u5438\u7eb3\u79d1\u7814\u53ca\u4ea7\u4e1a\u673a\u6784\uff0c\u5efa\u7acb\u77e5\u8bc6\u79d1\u666e\u5e73\u53f0\u53ca\u4ea7\u4e1a\u6570\u636e\u5e93\uff1b\u843d\u5730\u4e13\u5bb6\u5171\u8bc6\u548c\u884c\u4e1a\u89c4\u8303\u6307\u5357\uff0c\u51fa\u53f0\u57fa\u4e8e\u6211\u56fd\u57fa\u56e0\u7a81\u53d8\u9891\u7387\u548c\u75be\u75c5\u53d1\u75c5\u7387\u7684\u57fa\u56e0\u53d8\u5f02\u81f4\u75c5\u6027\u6307\u5357\uff08\u7c7b\u4f3cACMG\u6307\u5357\uff09\u7b49\uff1b\u4fc3\u8fdb\u4ea7\u5b66\u7814\u7528\u94fe\u63a5\u548c\u534f\u4f5c\u3002<\/p>\n<\/p>\n<p>\u5236\u5ea6\u5c42\u9762\uff1a\u5b64\u513f\u836f\u7684\u5f00\u53d1\u79bb\u4e0d\u5f00\u7f55\u89c1\u75c5\u9776\u70b9\u7684\u53d1\u73b0\uff0c\u540e\u8005\u5728\u7f55\u89c1\u75c5\u8bca\u65ad\u4e2d\u6709\u6548\u6316\u6398\uff1b\u76ee\u524d\u7f55\u89c1\u75c5\u8bca\u65ad\u4f01\u4e1a\u9762\u4e34\u548c\u5b64\u513f\u836f\u7c7b\u4f3c\u7684\u5546\u4e1a\u56f0\u5883\uff0c\u5efa\u8bae\u5236\u5b9a\u7c7b\u4f3c\u5b64\u513f\u836f\u7684\u4f18\u60e0\u653f\u7b56\u6765\u6fc0\u52b1\u7f55\u89c1\u75c5\u57fa\u56e0\u68c0\u6d4b\uff0c\u52a9\u529b\u7f55\u89c1\u75c5\u8bca\u65ad\u540c\u65f6\u8d4b\u80fd\u5b64\u513f\u836f\u5f00\u53d1\uff1b\u6b64\u5916\uff0c\u6211\u56fd\u9057\u4f20\u54a8\u8be2\u57f9\u8bad\u4e86\u6570\u5343\u4eba\uff0c\u4f46\u5177\u5907\u76f8\u5f53\u6c34\u5e73\u9057\u4f20\u54a8\u8be2\u5b9e\u64cd\u7ecf\u9a8c\u7684\u9884\u8ba1\u4e0d\u8db3300\u4eba\uff0c\u4e13\u4e1a\u9057\u4f20\u54a8\u8be2\u4eba\u624d\u7f3a\u53e3\u81f3\u5c115\u4e07\u4eba\uff0c\u5efa\u8bae\u51fa\u53f0\u76f8\u5173\u89c4\u8303\u5e76\u7eb3\u5165\u5b98\u65b9\u8ba4\u8bc1\u3002<\/p>\n<\/p>\n<p>\u3010\u81f4\u8c22\u3011\u9ec4\u8377\u51e4\u9662\u58eb\u3001\u5362\u5149\u7407\u6559\u6388\u4f5c\u5e8f\u63a8\u8350\u3002\u611f\u8c22\u661f\u4e91\u57fa\u56e0\u3001\u534e\u5927\u667a\u9020\u3001\u8d5b\u798f\u57fa\u56e0\u3001\u9e4d\u8fdc\u751f\u7269\u5bf9\u300a\u57fa\u56e0\u884c\u4e1a\u84dd\u76ae\u4e66\uff082024-2025\uff09\u300b\u7684\u5927\u529b\u652f\u6301\uff0c\u5f97\u4ee5\u516c\u5f00\u53d1\u5e03\u548c\u4f20\u64ad\u3002<\/p>\n<p>\u3010\u8bf4\u660e\u3011\u300a\u57fa\u56e0\u884c\u4e1a\u84dd\u76ae\u4e66\u300b\u7531\u57fa\u56e0\u6167\u8054\u5408\u5408\u4f5c\u4f19\u4f34\u5411\u516c\u4f17\u514d\u8d39\u53d1\u5e03\u7535\u5b50\u7248\u53ca\u7eb8\u8d28\u7248\uff0c\u5747\u672a\u5bf9\u5916\u9500\u552e\u6216\u6388\u6743\u4efb\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class=\"wp-block-image\">\n<figure class=\"aligncenter\"><img decoding=\"async\" src=\"https:\/\/www.geneclub.net.cn\/wp-content\/uploads\/images\/RmFicvQBAkgAZnLkDe7uhjxzfJygsrK2Lq1sglOMNZ2xueoxBib7ysa424Mdoxa2icXx62Fiadg7XHgMnZbnKSxCOQ.jpg\" alt=\"RmFicvQBAkgAZnLkDe7uhjxzfJygsrK2Lq1sglOMNZ2xueoxBib7ysa424Mdoxa2icXx62Fiadg7XHgMnZbnKSxCOQ\"\/><\/figure><\/div>\n\n<\/p>\n<p>\u300a\u57fa\u56e0\u884c\u4e1a\u84dd\u76ae\u4e662025\u300b\u542f\u52a8\u5408\u4f5c\u00a0<\/p>\n<p>\u00a0\u8fde\u7eed\u7b2c8\u5e74\u53d1\u5e03\uff0c\u9996\u53d1\u4e2d\u3001\u82f1\u53cc\u8bed\u7248\u00a0<\/p>\n<p>\u00a090%\u7684\u5934\u90e8\u57fa\u56e0\u673a\u6784\u66fe\u53c2\u4e0e\u5408\u4f5c\u00a0<\/p>\n<p>\u00a0\u6b22\u8fce\u4f01\u4e1a\/\u56ed\u533a\/\u5b66\u4f1a\u7b49\u8054\u5408\u53d1\u5e03<\/p>\n<p>\u8054\u7cfb\uff1alily@genonet.cn\u00a0<\/p>\n<p>\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter\"><img decoding=\"async\" src=\"https:\/\/www.geneclub.net.cn\/wp-content\/uploads\/images\/RmFicvQBAkgD8WY0PaUkJEejy8xHAVGK9ShqKDbic2VLFyQiaGOrfTJrHsG9526FdJaIGBexenraUZHaDC2o9elnw.jpg\" alt=\"RmFicvQBAkgD8WY0PaUkJEejy8xHAVGK9ShqKDbic2VLFyQiaGOrfTJrHsG9526FdJaIGBexenraUZHaDC2o9elnw\"\/><\/figure><\/div>\n\n<\/p>\n<p>\u00a0 \u57fa\u56e0\u6167\u84dd\u76ae\u4e66\u7cfb\u5217\u53d1\u5e03\u60c5\u51b5\u4e3e\u4f8b\u00a0\u00a0<\/p>\n<\/p>\n<p>\uff08\u2193\u4e0a\u4e0b\u6ed1\u52a8\u67e5\u770b\u8be6\u60c5\uff09<\/p>\n<\/p>\n<p>\u300a\u57fa\u56e0\u884c\u4e1a\u84dd\u76ae\u4e66\uff082024-2025\u300b<\/p>\n<\/p>\n<div><a href=\"https:\/\/mp.weixin.qq.com\/s?__biz=MzI3NjUzOTM1Mg==&amp;mid=2247515881&amp;idx=1&amp;sn=a9ce769e0cd3e89486388afaca2172c0&amp;chksm=eb710c5edc0685485ce4ab317cfe5dd055f1f2ddc0ad7440fe1a89254a8bece7c941e38d6424&amp;token=141761245&amp;lang=zh_CN&amp;scene=21#wechat_redirect\" \/><\/p>\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter\"><img decoding=\"async\" src=\"https:\/\/www.geneclub.net.cn\/wp-content\/uploads\/images\/RmFicvQBAkgBybHf5z5cicHF6cYWoPuNQcpgtL718yicBzGF7SQulfNkbxhILAwWoLK7Iic4KHVXmUc4IT7wNRgksg.jpg\" alt=\"RmFicvQBAkgBybHf5z5cicHF6cYWoPuNQcpgtL718yicBzGF7SQulfNkbxhILAwWoLK7Iic4KHVXmUc4IT7wNRgksg\"\/><\/figure><\/div>\n\n<p><\/a><\/div>\n<p>\u4f5c\u5e8f\u4e13\u5bb6<\/p>\n<p>\u9ec4\u8377\u51e4\u9662\u58eb<\/p>\n<p>\u5362\u5149\u7407\u6559\u6388<\/p>\n<\/p>\n<p>\u300a2023\u57fa\u56e0\u884c\u4e1a\u84dd\u76ae\u4e66\u300b<\/p>\n<\/p>\n<div><a href=\"https:\/\/mp.weixin.qq.com\/s?__biz=MzI3NjUzOTM1Mg==&amp;mid=2247514191&amp;idx=1&amp;sn=e949065bd02f2c70e083d064ad2e86f3&amp;chksm=eb710af8dc0683ee4630d1c82045982122f51da8844816891bd9f3d660970bda66de687cf808&amp;token=141761245&amp;lang=zh_CN&amp;scene=21#wechat_redirect\" \/><\/p>\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter\"><img decoding=\"async\" src=\"https:\/\/www.geneclub.net.cn\/wp-content\/uploads\/images\/RmFicvQBAkgBybHf5z5cicHF6cYWoPuNQcBUPpJeGsicWiaCNr8bD4bR3XiaURAr6PkFOkHzH1CIkUajSxRuE5R4MPA.jpg\" alt=\"RmFicvQBAkgBybHf5z5cicHF6cYWoPuNQcBUPpJeGsicWiaCNr8bD4bR3XiaURAr6PkFOkHzH1CIkUajSxRuE5R4MPA\"\/><\/figure><\/div>\n\n<p><\/a><\/div>\n<p>\u4f5c\u5e8f\u4e13\u5bb6<\/p>\n<p>\u8a79\u542f\u654f\u9662\u58eb<\/p>\n<\/p>\n<p>\u300a2022\u57fa\u56e0\u884c\u4e1a\u84dd\u76ae\u4e66\u300b<\/p>\n<div><a href=\"https:\/\/mp.weixin.qq.com\/s?__biz=MzI3NjUzOTM1Mg==&amp;mid=2247512551&amp;idx=1&amp;sn=c85f663051563e930d706360d5f2408b&amp;chksm=eb710350dc068a46711605a979ec7f399ad86f8a1e6c1899e32ec0a031badd801f44b1c49b8b&amp;token=141761245&amp;lang=zh_CN&amp;scene=21#wechat_redirect\" \/><\/p>\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter\"><img decoding=\"async\" src=\"https:\/\/www.geneclub.net.cn\/wp-content\/uploads\/images\/RmFicvQBAkgBybHf5z5cicHF6cYWoPuNQcxFczqKU14GpPZeicxXicBC7R1ncP5GGh5fP7jnhIicLxGuicRNOJtV41ow.jpg\" alt=\"RmFicvQBAkgBybHf5z5cicHF6cYWoPuNQcxFczqKU14GpPZeicxXicBC7R1ncP5GGh5fP7jnhIicLxGuicRNOJtV41ow\"\/><\/figure><\/div>\n\n<p><\/a><\/div>\n<p>\u4f5c\u5e8f\u4e13\u5bb6<\/p>\n<p>\u9648\u6da6\u751f\u9662\u58eb<\/p>\n<\/p>\n<p>\u300aDNA\u5b58\u50a8\u84dd\u76ae\u4e66\u300b<\/p>\n<div><a href=\"http:\/\/mp.weixin.qq.com\/s?__biz=MzI3NjUzOTM1Mg==&amp;mid=2247510463&amp;idx=1&amp;sn=d11a8107fbcb0043e1bd6b6a706ef483&amp;chksm=eb711b08dc06921e16498e95da853084ca941dd3f4035f51d3a92ababc27a8c348d5850d1d39&amp;scene=21#wechat_redirect\" \/><\/p>\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter\"><img decoding=\"async\" src=\"https:\/\/www.geneclub.net.cn\/wp-content\/uploads\/images\/RmFicvQBAkgAqW1PExUUyVdMN1Aibd1YNZjAn175VO199G77eFbXibNowG6j3tc11WwZiaNZnTCY790QVSgqVJSdicA.png\" 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