{"id":84225,"date":"2024-11-15T16:00:28","date_gmt":"2024-11-15T07:00:28","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/17q21-31-deletion-syndrome\/"},"modified":"2026-07-12T21:23:55","modified_gmt":"2026-07-12T12:23:55","slug":"17q21-31-deletion-syndrome","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/17q21-31-deletion-syndrome\/?lang=zh-hans","title":{"rendered":"17q21.31 \u7f3a\u5931\u7efc\u5408\u5f81"},"content":{"rendered":"<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2024\/12\/31268230_s1.jpg\" alt=\"\u533b\u751f\uff0c\u5fae\u7b11\" class=\"wp-image-87072\"\/><\/figure><\/div>\n\n<p><strong>17q21.31\u7f3a\u5931\u7efc\u5408\u5f81\uff08\u53c8\u79f0Koolen-de Vries\u7efc\u5408\u5f81\uff09\u662f\u4e00\u79cd\u6781\u4e3a\u7f55\u89c1\u7684\u9057\u4f20\u6027\u75be\u75c5\uff0c\u753117\u53f7\u67d3\u8272\u4f53\u957f\u81c2\u4e0a\u5305\u542bKANSL1\u57fa\u56e0\u7684\u533a\u57df\u7f3a\u5931\u6240\u81f4\u3002<\/strong>\u60a3\u513f\u53ef\u80fd\u4f34\u6709\u53d1\u80b2\u8fdf\u7f13\u3001\u7279\u5f81\u6027\u9762\u5bb9\u548c\u766b\u75eb\uff0c\u4f46\u75c7\u72b6\u8868\u73b0\u56e0\u4eba\u800c\u5f02\uff0c\u5dee\u5f02\u5f88\u5927\uff0c\u800c\u4e14\u8fd9\u7c7b\u5b69\u5b50\u5f80\u5f80\u6027\u683c\u6e29\u548c\u3001\u4eb2\u5207\u53cb\u5584\uff0c\u8fd9\u4e5f\u662f\u8be5\u75c5\u5e7f\u4e3a\u4eba\u77e5\u7684\u7279\u70b9\u4e4b\u4e00\u3002\u591a\u6570\u641c\u7d22\u5230\u8fd9\u4e2a\u75c5\u540d\u7684\u5bb6\u957f\uff0c\u5fc3\u4e2d\u901a\u5e38\u6709\u4e09\u4e2a\u7591\u95ee\uff1a&#8221;\u8fd9\u662f\u4ec0\u4e48\u75c5&#8221;&#8221;\u4f1a\u4e0d\u4f1a\u9057\u4f20&#8221;&#8221;NIPT\u80fd\u67e5\u51fa\u6765\u5417&#8221;\u3002<\/p>\n\n<p>\u672c\u6587\u5c06\u4ece\u81f4\u75c5\u57fa\u56e0KANSL1\u548c\u8be5\u533a\u57df\u7279\u6709\u7684\u67d3\u8272\u4f53\u7ed3\u6784&#8221;H2\u5355\u500d\u578b&#8221;\u8bb2\u8d77\uff0c\u4f9d\u6b21\u4ecb\u7ecd\u75c7\u72b6\u3001\u8bca\u65ad\u65b9\u6cd5\u3001\u4e0eNIPT\u7684\u5173\u7cfb\uff0c\u4ee5\u53ca\u5bb6\u5ead\u53ef\u4ee5\u91c7\u53d6\u7684\u5e94\u5bf9\u65b9\u5f0f\uff0c\u5185\u5bb9\u53c2\u8003\u4e86\u516c\u5171\u536b\u751f\u673a\u6784\u4e0e\u56fd\u9645\u5b66\u672f\u6587\u732e\u3002\u7531\u4e8e\u8be5\u75c5\u540d\u79f0\u5bb9\u6613\u4e0e\u5176\u4ed6\u75be\u75c5\u6df7\u6dc6\uff0c\u6211\u4eec\u4e5f\u4f1a\u8bf4\u660e\u5176\u4e2d\u7684\u533a\u522b\u3002<\/p>\n\n<div class=\"info-box\" style=\"margin:1.5em 0;padding:1.2em 1.4em;background:#f3f8ff;border-left:5px solid #5b9bd5;border-radius:8px;\">\n<p style=\"font-weight:bold;margin-bottom:0.6em;\">\ud83d\udca1 \u672c\u6587\u8981\u70b9<\/p>\n<ul style=\"margin:0;padding-left:1.2em;\">\n<li>17q21.31\u7f3a\u5931\u7efc\u5408\u5f81\uff08Koolen-de Vries\u7efc\u5408\u5f81\uff09\u7684\u75c5\u56e0\u4e0eKANSL1\u57fa\u56e0\u7684\u4f5c\u7528<\/li>\n<li>\u4e3b\u8981\u75c7\u72b6\u53ca\u968f\u6210\u957f\u800c\u53d8\u5316\u7684\u8fc7\u7a0b<\/li>\n<li>\u4e0e\u5176\u4ed617\u53f7\u67d3\u8272\u4f53\u5f02\u5e38\u75be\u75c5\u7684\u533a\u522b<\/li>\n<li>\u5e38\u89c4NIPT\u80fd\u5426\u68c0\u51fa\uff0c\u786e\u8bca\u9700\u8981\u54ea\u4e9b\u68c0\u67e5<\/li>\n<li>\u6cbb\u7597\u4e0e\u5eb7\u590d\u8bad\u7ec3\u7684\u601d\u8def\uff0c\u4ee5\u53ca\u5bb6\u5ead\u652f\u6301\u4f53\u7cfb<\/li>\n<\/ul>\n<\/div>\n\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_85 counter-hierarchy ez-toc-counter ez-toc-grey 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/17q21-31-deletion-syndrome\/?lang=zh-hans\/#%E6%B2%BB%E7%96%97%E3%80%81%E5%BA%B7%E5%A4%8D%E8%AE%AD%E7%BB%83%E4%B8%8E%E9%A2%84%E5%90%8E\" >\u6cbb\u7597\u3001\u5eb7\u590d\u8bad\u7ec3\u4e0e\u9884\u540e<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/17q21-31-deletion-syndrome\/?lang=zh-hans\/#%E5%AE%B6%E5%BA%AD%E7%9A%84%E8%B4%9F%E6%8B%85%E4%B8%8E%E6%94%AF%E6%8C%81%E4%BD%93%E7%B3%BB\" >\u5bb6\u5ead\u7684\u8d1f\u62c5\u4e0e\u652f\u6301\u4f53\u7cfb<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/17q21-31-deletion-syndrome\/?lang=zh-hans\/#Hiro_Clinic_NIPT%E8%83%BD%E4%B8%BA%E6%82%A8%E6%8F%90%E4%BE%9B%E4%BB%80%E4%B9%88\" >Hiro Clinic NIPT\u80fd\u4e3a\u60a8\u63d0\u4f9b\u4ec0\u4e48<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/17q21-31-deletion-syndrome\/?lang=zh-hans\/#%E6%9C%89%E6%B2%BB%E7%96%97%E6%96%B9%E6%B3%95%E5%90%97%EF%BC%9F%E9%95%BF%E6%9C%9F%E9%A2%84%E5%90%8E%E5%A6%82%E4%BD%95%EF%BC%9F\" >\u6709\u6cbb\u7597\u65b9\u6cd5\u5417\uff1f\u957f\u671f\u9884\u540e\u5982\u4f55\uff1f<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-18\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/17q21-31-deletion-syndrome\/?lang=zh-hans\/#%E6%80%BB%E7%BB%93\" >\u603b\u7ed3<\/a><\/li><\/ul><\/nav><\/div>\n<h2><span class=\"ez-toc-section\" id=\"%E4%BB%80%E4%B9%88%E6%98%AF17q2131%E7%BC%BA%E5%A4%B1%E7%BB%BC%E5%90%88%E5%BE%81%EF%BC%88Koolen-de_Vries%E7%BB%BC%E5%90%88%E5%BE%81%EF%BC%89\"><\/span>\u4ec0\u4e48\u662f17q21.31\u7f3a\u5931\u7efc\u5408\u5f81\uff08Koolen-de Vries\u7efc\u5408\u5f81\uff09<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n<p><strong>\u8fd9\u662f\u4e00\u79cd\u753117\u53f7\u67d3\u8272\u4f53\u957f\u81c217q21.31\u533a\u57df\u7f3a\u5931\u6240\u5f15\u8d77\u7684\u5148\u5929\u6027\u75be\u75c5\uff0c\u56fd\u9645\u4e0a\u76ee\u524d\u8d8b\u5411\u7edf\u4e00\u4f7f\u7528&#8221;Koolen-de Vries\u7efc\u5408\u5f81&#8221;\u8fd9\u4e00\u540d\u79f0\u3002<\/strong>\u8be5\u75c5\u540d\u6e90\u81ea2006\u5e74Koolen\u533b\u751f\u3001Sharp\u533b\u751f\u548cde Vries\u533b\u751f\u5404\u81ea\u72ec\u7acb\u53d1\u8868\u7684\u7814\u7a76\u62a5\u544a\u3002<\/p>\n\n<p>\u53d1\u75c5\u7387\u56e0\u6587\u732e\u800c\u5f02\uff0c\u6709\u62a5\u544a\u79f0\u7ea6\u4e3a1.6\u4e07\u5206\u4e4b\u4e00\uff0c\u4e5f\u6709\u62a5\u544a\u79f0\u7ea6\u4e3a5.5\u4e07\u5206\u4e4b\u4e00\u3002\u5728\u67d3\u8272\u4f53\u5fae\u9635\u5217\u68c0\u6d4b\uff08CMA\uff09\u666e\u53ca\u4e4b\u524d\uff0c\u8be5\u75c5\u5e38\u5e38\u88ab\u6f0f\u8bca\uff0c\u56e0\u6b64\u5b9e\u9645\u53d1\u75c5\u7387\u4ecd\u5728\u8fdb\u4e00\u6b65\u660e\u786e\u4e4b\u4e2d\u3002\u7f8e\u56fd\u7f55\u89c1\u75c5\u4fe1\u606f\u4e2d\u5fc3<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/10727\/koolen-de-vries-syndrome\" target=\"_blank\" rel=\"noopener\">GARD<\/a>\u548c\u6b27\u6d32\u7f55\u89c1\u75c5\u6570\u636e\u5e93<a href=\"https:\/\/www.orpha.net\/en\/disease\/detail\/96169\" target=\"_blank\" rel=\"noopener\">Orphanet<\/a>\u5747\u516c\u5f00\u53d1\u5e03\u4e86\u5173\u4e8e\u75c7\u72b6\u3001\u75c5\u56e0\u548c\u8bca\u65ad\u7684\u8be6\u7ec6\u8bf4\u660e\u3002<\/p>\n\n<h2><span class=\"ez-toc-section\" id=\"%E7%97%85%E5%9B%A0%EF%BC%9AKANSL1%E5%9F%BA%E5%9B%A0%E4%B8%8EH2%E5%8D%95%E5%80%8D%E5%9E%8B\"><\/span>\u75c5\u56e0\uff1aKANSL1\u57fa\u56e0\u4e0eH2\u5355\u500d\u578b<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n<p><strong>\u81f4\u75c5\u539f\u56e0\u662f17q21.31\u533a\u57df\u5185KANSL1\u57fa\u56e0\u7684\u7f3a\u5931\uff0c\u6216KANSL1\u57fa\u56e0\u672c\u8eab\u53d1\u751f\u53d8\u5f02\u3002<\/strong>\u8be5\u57fa\u56e0\u53c2\u4e0e\u7ec4\u86cb\u767d\u4fee\u9970\uff0c\u88ab\u8ba4\u4e3a\u4f1a\u5f71\u54cd\u5305\u62ec\u8111\u90e8\u53d1\u80b2\u5728\u5185\u7684\u591a\u79cd\u7ec6\u80de\u529f\u80fd\u3002<\/p>\n\n<p>\u53e6\u4e00\u4e2a\u7279\u70b9\u662f\u88ab\u79f0\u4e3a&#8221;H2\u5355\u500d\u578b&#8221;\u7684\u67d3\u8272\u4f53\u5012\u4f4d\u7ed3\u6784\uff0c\u8fd9\u4e00\u533a\u57df\u8f83\u5bb9\u6613\u53d1\u751f\u8fd9\u79cd\u5012\u4f4d\u3002\u643a\u5e26H2\u5355\u500d\u578b\u7684\u4eba\uff0c\u5728\u7cbe\u5b50\u6216\u5375\u5b50\u5f62\u6210\u8fc7\u7a0b\u4e2d\u66f4\u5bb9\u6613\u51fa\u73b0\u7f3a\u5931\u3002\u5728\u6b27\u6d32\u88d4\u4eba\u7fa4\u4e2d\uff0c\u7ea6\u6709\u4e24\u6210\u7684\u4eba\u643a\u5e26H2\u5355\u500d\u578b\uff0c\u5176\u4e2d\u7edd\u5927\u591a\u6570\u5e76\u65e0\u4efb\u4f55\u75c7\u72b6\uff0c\u5c5e\u4e8e\u65e0\u75c7\u72b6\u643a\u5e26\u8005\u3002<\/p>\n\n<figure class=\"wp-table-block\"><table><thead><tr><th>\u53d1\u751f\u673a\u5236<\/th><th>\u7279\u70b9<\/th><th>\u9057\u4f20\u65b9\u5f0f<\/th><\/tr><\/thead><tbody>\n<tr><td>17q21.31\u533a\u57df\u5fae\u7f3a\u5931<\/td><td>\u5305\u62ecKANSL1\u5728\u5185\u7684\u591a\u4e2a\u57fa\u56e0\u540c\u65f6\u7f3a\u5931<\/td><td>\u7edd\u5927\u591a\u6570\u4e3a\u65b0\u53d1\u7a81\u53d8\uff08\u5e76\u975e\u6765\u81ea\u7236\u6bcd\u9057\u4f20\uff09<\/td><\/tr>\n<tr><td>KANSL1\u57fa\u56e0\u5355\u72ec\u53d8\u5f02<\/td><td>\u5e76\u975e\u7f3a\u5931\uff0c\u800c\u662f\u57fa\u56e0\u5e8f\u5217\u53d1\u751f\u53d8\u5316<\/td><td>\u5e38\u67d3\u8272\u4f53\u663e\u6027\u9057\u4f20\uff08\u4e00\u4e2a\u62f7\u8d1d\u53d1\u751f\u53d8\u5316\u5373\u53ef\u81f4\u75c5\uff09<\/td><\/tr>\n<\/tbody><\/table><figcaption>17q21.31\u7f3a\u5931\u7efc\u5408\u5f81\uff08Koolen-de Vries\u7efc\u5408\u5f81\uff09\u7684\u4e3b\u8981\u81f4\u75c5\u673a\u5236<\/figcaption><\/figure>\n\n<p>\u65e0\u8bba\u54ea\u79cd\u60c5\u51b5\uff0c\u5927\u591a\u6570\u90fd\u5c5e\u4e8e\u5076\u53d1\u7684\u65b0\u53d1\u7a81\u53d8\uff08de novo\uff09\uff0c\u5e76\u975e\u7236\u6bcd\u4efb\u4f55\u4e00\u65b9\u6240\u81f4\uff0c\u800c\u662f\u5728\u751f\u6b96\u7ec6\u80de\u5f62\u6210\u8fc7\u7a0b\u4e2d\u5076\u7136\u4ea7\u751f\u7684\u53d8\u5316\u3002\u5bb6\u957f\u5b8c\u5168\u4e0d\u5fc5\u81ea\u8d23\u3002\u4e0d\u8fc7\uff0c\u6781\u5c11\u6570\u60c5\u51b5\u4e0b\u8be5\u53d8\u5316\u4e5f\u53ef\u80fd\u6765\u81ea\u7236\u6bcd\u4e00\u65b9\u9057\u4f20\uff0c\u56e0\u6b64\u786e\u8bca\u540e\u5efa\u8bae\u7531\u4e34\u5e8a\u9057\u4f20\u5b66\u4e13\u79d1\u533b\u751f\u5bf9\u5bb6\u65cf\u8fdb\u884c\u8bc4\u4f30\u3002<\/p>\n\n<h2><span class=\"ez-toc-section\" id=\"%E4%B8%BB%E8%A6%81%E7%97%87%E7%8A%B6%E5%8F%8A%E6%88%90%E9%95%BF%E8%BF%87%E7%A8%8B%E4%B8%AD%E7%9A%84%E5%8F%98%E5%8C%96\"><\/span>\u4e3b\u8981\u75c7\u72b6\u53ca\u6210\u957f\u8fc7\u7a0b\u4e2d\u7684\u53d8\u5316<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n<p><strong>\u6838\u5fc3\u75c7\u72b6\u5305\u62ec\u808c\u5f20\u529b\u4f4e\u4e0b\u3001\u53d1\u80b2\u8fdf\u7f13\uff0c\u4ee5\u53ca\u7279\u5f81\u6027\u9762\u5bb9\u4e09\u9879\u3002<\/strong>\u75c7\u72b6\u7684\u8f7b\u91cd\u548c\u7ec4\u5408\u56e0\u4eba\u800c\u5f02\uff0c\u5e76\u4e14\u4f1a\u968f\u7740\u6210\u957f\u800c\u53d1\u751f\u53d8\u5316\uff0c\u8fd9\u4e00\u70b9\u503c\u5f97\u5bb6\u957f\u4e86\u89e3\u3002<\/p>\n\n<p>\u5a74\u513f\u671f\u6700\u5148\u88ab\u5bdf\u89c9\u7684\u901a\u5e38\u662f\u808c\u5f20\u529b\u4f4e\u4e0b\uff1a\u8eab\u4f53\u611f\u89c9\u5f02\u5e38\u67d4\u8f6f\uff0c\u62ac\u5934\u548c\u884c\u8d70\u7b49\u8fd0\u52a8\u53d1\u80b2\u5f80\u5f80\u8f83\u665a\uff0c\u8bed\u8a00\u53d1\u80b2\u4e5f\u5e38\u6709\u5ef6\u8fdf\u3002\u667a\u529b\u53d1\u80b2\u591a\u4e3a\u8f7b\u5ea6\u81f3\u4e2d\u5ea6\u8fdf\u7f13\uff0c\u800c\u8fd9\u7c7b\u5b69\u5b50\u6027\u683c\u6e29\u548c\u3001\u4eb2\u5207\u53cb\u5584\uff0c\u662f\u8be5\u75c5\u6700\u4e3a\u7a81\u51fa\u7684\u7279\u70b9\u4e4b\u4e00\u3002<\/p>\n\n<figure class=\"wp-table-block\"><table><thead><tr><th>\u75c7\u72b6<\/th><th>\u5927\u81f4\u53d1\u751f\u7387<\/th><th>\u8865\u5145\u8bf4\u660e<\/th><\/tr><\/thead><tbody>\n<tr><td>\u808c\u5f20\u529b\u4f4e\u4e0b\u30fb\u53d1\u80b2\u8fdf\u7f13<\/td><td>\u51e0\u4e4e\u6240\u6709\u75c5\u4f8b<\/td><td>\u591a\u4f34\u6709\u8f7b\u5ea6\u81f3\u4e2d\u5ea6\u667a\u529b\u969c\u788d<\/td><\/tr>\n<tr><td>\u7279\u5f81\u6027\u9762\u5bb9<\/td><td>\u5927\u591a\u6570\u75c5\u4f8b<\/td><td>\u957f\u8138\u3001\u5bbd\u989d\u5934\u3001\u68a8\u5f62\u9f3b\u5c16\u3001\u8033\u6735\u7a81\u51fa\u7b49<\/td><\/tr>\n<tr><td>\u766b\u75eb<\/td><td>\u7ea6\u534a\u6570\u5de6\u53f3<\/td><td>\u53d1\u75c5\u65f6\u95f4\u548c\u4e25\u91cd\u7a0b\u5ea6\u4e2a\u4f53\u5dee\u5f02\u8f83\u5927<\/td><\/tr>\n<tr><td>\u5148\u5929\u6027\u5fc3\u810f\u75c5<\/td><td>\u7ea6\u4e09\u81f3\u4e94\u6210<\/td><td>\u5efa\u8bae\u5c3d\u65e9\u901a\u8fc7\u5fc3\u810f\u8d85\u58f0\u8bc4\u4f30<\/td><\/tr>\n<tr><td>\u6ccc\u5c3f\u751f\u6b96\u7cfb\u7edf\u5f02\u5e38<\/td><td>\u90e8\u5206\u75c5\u4f8b<\/td><td>\u5305\u62ec\u9690\u777e\u3001\u80be\u810f\u7ed3\u6784\u5f02\u5e38\u7b49<\/td><\/tr>\n<\/tbody><\/table><figcaption>17q21.31\u7f3a\u5931\u7efc\u5408\u5f81\uff08Koolen-de Vries\u7efc\u5408\u5f81\uff09\u7684\u75c7\u72b6\u53ca\u5927\u81f4\u53d1\u751f\u7387\uff08\u56e0\u6587\u732e\u800c\u5f02\uff09<\/figcaption><\/figure>\n\n<p>\u4ee5\u4e0a\u6570\u503c\u4ec5\u4f9b\u53c2\u8003\uff0c\u5b9e\u9645\u75c7\u72b6\u8868\u73b0\u5dee\u5f02\u5f88\u5927\u3002\u5373\u4fbf\u662f\u76f8\u540c\u7684\u57fa\u56e0\u53d8\u5316\uff0c\u6709\u7684\u5b69\u5b50\u75c7\u72b6\u5f88\u8f7b\uff0c\u6709\u7684\u5219\u9700\u8981\u8f83\u4e3a\u5168\u9762\u7684\u533b\u7597\u7167\u62a4\u3002\u4e0d\u5e94\u4ec5\u51ed\u786e\u8bca\u65f6\u7684\u4e25\u91cd\u7a0b\u5ea6\uff0c\u5c31\u65ad\u5b9a\u5b69\u5b50\u672a\u6765\u7684\u53d1\u5c55\u3002<\/p>\n\n\n\n<h2><span class=\"ez-toc-section\" id=\"%E9%81%BF%E5%85%8D%E4%B8%8E%E5%85%B6%E4%BB%9617%E5%8F%B7%E6%9F%93%E8%89%B2%E4%BD%93%E5%BC%82%E5%B8%B8%E6%B7%B7%E6%B7%86\"><\/span>\u907f\u514d\u4e0e\u5176\u4ed617\u53f7\u67d3\u8272\u4f53\u5f02\u5e38\u6df7\u6dc6<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n<p><strong>17q21.31\u7f3a\u5931\u7efc\u5408\u5f81\u53d1\u751f\u572817\u53f7\u67d3\u8272\u4f53\u7684&#8221;\u957f\u81c2&#8221;\uff0c\u4e0e\u53d1\u751f\u5728&#8221;\u77ed\u81c2&#8221;\u7684\u53f2\u5bc6\u65af-\u9a6c\u5409\u5229\u7efc\u5408\u5f81\u3001\u7c73\u52d2-\u8fea\u514b\u5c14\u7efc\u5408\u5f81\u5728\u75c5\u56e0\u548c\u75c7\u72b6\u4e0a\u5747\u4e0d\u76f8\u540c\u3002<\/strong>\u7531\u4e8e\u68c0\u7d22\u65f6\u4fe1\u606f\u5bb9\u6613\u6df7\u6742\uff0c\u9996\u5148\u5e94\u5398\u6e05\u5404\u81ea\u5728\u67d3\u8272\u4f53\u4e0a\u7684\u5177\u4f53\u4f4d\u7f6e\u3002<\/p>\n\n<figure class=\"wp-table-block\"><table><thead><tr><th>\u75be\u75c5\u540d\u79f0<\/th><th>\u67d3\u8272\u4f53\u4f4d\u7f6e<\/th><th>\u4e3b\u8981\u7279\u70b9<\/th><\/tr><\/thead><tbody>\n<tr><td>17q21.31\u7f3a\u5931\u7efc\u5408\u5f81\uff08Koolen-de Vries\u7efc\u5408\u5f81\uff09<\/td><td>17\u53f7\u67d3\u8272\u4f53 \u957f\u81c221.31<\/td><td>\u6027\u683c\u6e29\u548c\u3001\u53d1\u80b2\u8fdf\u7f13\u3001\u7279\u5f81\u6027\u9762\u5bb9<\/td><\/tr>\n<tr><td>\u53f2\u5bc6\u65af-\u9a6c\u5409\u5229\u7efc\u5408\u5f81<\/td><td>17\u53f7\u67d3\u8272\u4f53 \u77ed\u81c211.2<\/td><td>\u7761\u7720\u969c\u788d\u3001\u81ea\u4f24\u7b49\u884c\u4e3a\u7279\u5f81<\/td><\/tr>\n<tr><td>\u7c73\u52d2-\u8fea\u514b\u5c14\u7efc\u5408\u5f81<\/td><td>17\u53f7\u67d3\u8272\u4f53 \u77ed\u81c213.3<\/td><td>\u4f34\u6709\u8111\u53d1\u80b2\u5f02\u5e38\uff08\u65e0\u8111\u56de\u7578\u5f62\uff09\u7684\u4e25\u91cd\u795e\u7ecf\u7cfb\u7edf\u75c7\u72b6<\/td><\/tr>\n<tr><td>\u5a01\u5ec9\u59c6\u65af\u7efc\u5408\u5f81<\/td><td>7\u53f7\u67d3\u8272\u4f53 \u957f\u81c211.23<\/td><td>\u5fc3\u810f\u75c5\u3001\u6027\u683c\u5f00\u6717\u72ec\u7279\u3001\u89c6\u89c9\u7a7a\u95f4\u80fd\u529b\u8f83\u5f31<\/td><\/tr>\n<\/tbody><\/table><figcaption>\u5bb9\u6613\u6df7\u6dc6\u7684\u75be\u75c5\u540d\u79f0\u4e0e\u7279\u5f81\u5bf9\u6bd4<\/figcaption><\/figure>\n\n<p>&#8220;\u6027\u683c\u6e29\u548c\u4eb2\u5207&#8221;\u8fd9\u4e00\u63cf\u8ff0\u5728\u5a01\u5ec9\u59c6\u65af\u7efc\u5408\u5f81\u4e2d\u4e5f\u5e38\u88ab\u63d0\u53ca\uff0c\u8fd9\u4e5f\u662f\u7f51\u7edc\u4e0a\u4e24\u79cd\u75be\u75c5\u4fe1\u606f\u5bb9\u6613\u6df7\u6dc6\u7684\u539f\u56e0\u4e4b\u4e00\u3002\u4e24\u8005\u662f\u5b8c\u5168\u4e0d\u540c\u7684\u67d3\u8272\u4f53\u75be\u75c5\uff0c\u56e0\u6b64\u52a1\u5fc5\u4ee5\u786e\u8bca\u7ed3\u679c\u4e3a\u51c6\uff0c\u800c\u975e\u4ec5\u51ed\u540d\u79f0\u5224\u65ad\u3002<\/p>\n\n<h2><span class=\"ez-toc-section\" id=\"%E4%B8%8ENIPT%EF%BC%88%E6%97%A0%E5%88%9B%E4%BA%A7%E5%89%8D%E6%A3%80%E6%B5%8B%EF%BC%89%E7%9A%84%E5%85%B3%E7%B3%BB\"><\/span>\u4e0eNIPT\uff08\u65e0\u521b\u4ea7\u524d\u68c0\u6d4b\uff09\u7684\u5173\u7cfb<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n<p><strong>\u5e38\u89c4NIPT\uff08\u4ee521\u300118\u300113\u4e09\u4f53\u4e3a\u68c0\u6d4b\u5bf9\u8c61\u7684\u57fa\u7840\u68c0\u6d4b\uff09\u65e0\u6cd5\u68c0\u51fa17q21.31\u7f3a\u5931\u7efc\u5408\u5f81\u3002<\/strong>\u8fd9\u662f\u8bb8\u591a\u5b55\u5988\u5988\u5bb9\u6613\u8bef\u89e3\u7684\u90e8\u5206\u3002<\/p>\n\n<p>\u5e38\u89c4NIPT\u901a\u8fc7\u5206\u6790\u6bcd\u4f53\u8840\u6db2\u4e2d\u7684\u80ce\u513f\u6e38\u79bbDNA\u7247\u6bb5\uff0c\u68c0\u6d4b\u67d3\u8272\u4f53&#8221;\u6570\u91cf&#8221;\u7684\u53d8\u5316\u3002\u800c17q21.31\u7f3a\u5931\u7efc\u5408\u5f81\u5c5e\u4e8e\u67d3\u8272\u4f53&#8221;\u7ed3\u6784&#8221;\u7684\u90e8\u5206\u7f3a\u5931\uff0c\u5e76\u975e\u6570\u91cf\u5f02\u5e38\uff0c\u56e0\u6b64\u4e0d\u5728\u5e38\u89c4\u68c0\u6d4b\u8303\u56f4\u4e4b\u5185\u3002\u5e02\u9762\u4e0a\u4e5f\u5b58\u5728\u6db5\u76d6\u5fae\u7f3a\u5931\u3001\u5fae\u91cd\u590d\u7684\u6269\u5c55NIPT\u68c0\u6d4b\uff08\u9009\u914d\u9879\u76ee\uff09\uff0c\u4f46\u5404\u68c0\u6d4b\u673a\u6784\u3001\u5404\u5957\u9910\u6240\u8986\u76d6\u7684\u533a\u57df\u5e76\u4e0d\u76f8\u540c\uff0c\u5e76\u975e\u6240\u6709\u6269\u5c55\u68c0\u6d4b\u90fd\u5305\u542b17q21.31\u533a\u57df\u3002\u8bf7\u52a1\u5fc5\u5728\u68c0\u6d4b\u524d\uff0c\u901a\u8fc7\u68c0\u6d4b\u8bf4\u660e\u4e66\u6216\u9057\u4f20\u54a8\u8be2\u786e\u8ba4\u5177\u4f53\u8986\u76d6\u8303\u56f4\u3002<\/p>\n\n<p>\u53e6\u5916\u8fd8\u9700\u4e86\u89e3\uff0c\u65e0\u8bba\u662f\u57fa\u7840NIPT\u8fd8\u662f\u6269\u5c55NIPT\uff0c\u5747\u5c5e\u4e8e\u975e\u786e\u5b9a\u6027\u7684\u7b5b\u67e5\u68c0\u6d4b\uff0c\u800c\u975e\u8bca\u65ad\u68c0\u6d4b\u3002\u5373\u4fbf\u7ed3\u679c\u4e3a\u9633\u6027\uff0c\u4e5f\u9700\u8981\u901a\u8fc7\u7f8a\u6c34\u7a7f\u523a\u53d6\u6837\u8fdb\u884c\u67d3\u8272\u4f53\u5fae\u9635\u5217\u68c0\u6d4b\uff08CMA\uff09\u624d\u80fd\u786e\u8bca\u3002\u65e5\u672c\u4ea7\u79d1\u5987\u4eba\u79d1\u5b66\u4f1a\u53d1\u5e03\u7684<a href=\"https:\/\/www.jsog.or.jp\/news\/pdf\/NIPT_kaiteishishin.pdf\" target=\"_blank\" rel=\"noopener\">NIPT\u76f8\u5173\u6307\u5357<\/a>\uff08\u65e5\u6587\uff09\u4e5f\u660e\u786e\u6307\u51fa\uff0cNIPT\u5e76\u975e\u786e\u5b9a\u6027\u8bca\u65ad\u68c0\u6d4b\u3002\u4e1c\u4eac\u5973\u5b50\u533b\u79d1\u5927\u5b66\u57fa\u56e0\u8bca\u7597\u79d1\u53d1\u5e03\u7684<a href=\"https:\/\/www.cma-search.jp\/disease-info-patient\/19\/\" target=\"_blank\" rel=\"noopener\">\u67d3\u8272\u4f53\u5fae\u9635\u5217\u68c0\u6d4b\u8bf4\u660e<\/a>\uff08\u65e5\u6587\uff09\u4e5f\u5bf9\u8be5\u68c0\u6d4b\u65b9\u6cd5\u6709\u8be6\u7ec6\u4ecb\u7ecd\uff0c\u53ef\u4f5c\u53c2\u8003\u3002<\/p>\n\n<p>\u5982\u679c\u6269\u5c55NIPT\u572817q21.31\u533a\u57df\u68c0\u51fa\u5fae\u7f3a\u5931\u9633\u6027\u7ed3\u679c\uff0c\u901a\u5e38\u4f1a\u6309\u4ee5\u4e0b\u6d41\u7a0b\u63a8\u8fdb\u3002<\/p>\n\n<ol>\n<li><strong>\u9057\u4f20\u54a8\u8be2<\/strong>\uff1a\u9996\u5148\u7531\u4e13\u4e1a\u4eba\u5458\u8bf4\u660e\u7ed3\u679c\u542b\u4e49\uff0c\u5305\u62ec\u5047\u9633\u6027\u7684\u53ef\u80fd\u6027\u3002<\/li>\n<li><strong>\u7f8a\u6c34\u7a7f\u523a\uff08CMA\uff09<\/strong>\uff1a\u901a\u8fc7\u7f8a\u6c34\u7a7f\u523a\u83b7\u53d6\u80ce\u513f\u7ec6\u80de\uff0c\u8fdb\u884c\u67d3\u8272\u4f53\u5fae\u9635\u5217\u68c0\u6d4b\u4ee5\u786e\u8bca\u3002<\/li>\n<li><strong>\u8f6c\u8bca\u4e13\u79d1<\/strong>\uff1a\u786e\u8bca\u540e\uff0c\u513f\u79d1\u53ca\u4e34\u5e8a\u9057\u4f20\u5b66\u4e13\u79d1\u533b\u751f\u5c06\u5171\u540c\u534f\u52a9\u5236\u5b9a\u540e\u7eed\u652f\u6301\u65b9\u6848\u3002<\/li>\n<\/ol>\n\n<p>\u5173\u4e8eNIPT\u53ef\u4ee5\u68c0\u6d4b\u51fa\u7684\u75be\u75c5\u5168\u8c8c\uff0c\u53ef\u53c2\u8003\u6211\u4eec\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-detectable-conditions\/?lang=zh-hans\">\u300aNIPT\u53ef\u68c0\u6d4b\u51fa\u7684\u75be\u75c5\u6709\u54ea\u4e9b\u300b<\/a>\u4e00\u6587\u3002<\/p>\n\n<div class=\"cta-box\" style=\"text-align:center;margin:2em 0;padding:1.2em;background:#fff5f7;border-radius:12px;\">\n<p style=\"font-weight:bold;margin-bottom:0.8em;\">\u25bc \u60f3\u54a8\u8be2\u9002\u5408\u81ea\u5df1\u7684\u68c0\u6d4b\u9879\u76ee\uff1f<\/p>\n<p style=\"margin:0.4em 0;\"><a href=\"https:\/\/mypage-nipt-reservation.hiro-clinic.or.jp\/registration\" target=\"_blank\" rel=\"noopener\" style=\"display:inline-block;padding:0.7em 1.6em;background:#e8608a;color:#fff;border-radius:30px;text-decoration:none;font-weight:bold;\">\u9884\u7ea6NIPT\u68c0\u6d4b<\/a><\/p>\n<p style=\"margin:0.4em 0;\"><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/line-registration\/?lang=zh-hans\" target=\"_blank\" rel=\"noopener\" style=\"display:inline-block;padding:0.7em 1.6em;background:#06c755;color:#fff;border-radius:30px;text-decoration:none;font-weight:bold;\">\u901a\u8fc7LINE\u514d\u8d39\u54a8\u8be2<\/a><\/p>\n<\/div>\n\n<h2><span class=\"ez-toc-section\" id=\"%E4%BA%A7%E5%89%8D%E5%8F%8A%E4%BA%A7%E5%90%8E%E7%9A%84%E7%A1%AE%E8%AF%8A%E6%96%B9%E6%B3%95\"><\/span>\u4ea7\u524d\u53ca\u4ea7\u540e\u7684\u786e\u8bca\u65b9\u6cd5<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n<p><strong>\u786e\u8bca\u4e3b\u8981\u4f9d\u9760\u5bf9\u7f8a\u6c34\u7a7f\u523a\u6216\u7ed2\u6bdb\u53d6\u6837\u83b7\u5f97\u7684\u80ce\u513f\u7ec6\u80de\u8fdb\u884c\u67d3\u8272\u4f53\u5fae\u9635\u5217\u68c0\u6d4b\uff08CMA\uff09\uff0c\u51fa\u751f\u540e\u4e5f\u53ef\u91c7\u7528\u540c\u7c7b\u57fa\u56e0\u68c0\u6d4b\u65b9\u5f0f\u786e\u8bca\u3002<\/strong>\u9700\u8981\u6ce8\u610f\u7684\u662f\uff0c\u4f20\u7edf\u67d3\u8272\u4f53\u6838\u578b\u5206\u6790\uff08G\u663e\u5e26\u6cd5\uff09\u5f80\u5f80\u65e0\u6cd5\u53d1\u73b0\u5982\u6b64\u5fae\u5c0f\u7684\u7f3a\u5931\u3002<\/p>\n\n<p>\u51fa\u751f\u540e\u5982\u56e0\u53d1\u80b2\u8fdf\u7f13\u6216\u7279\u5f81\u6027\u9762\u5bb9\u800c\u6000\u7591\u672c\u75c5\uff0c\u540c\u6837\u53ef\u901a\u8fc7\u67d3\u8272\u4f53\u5fae\u9635\u5217\u68c0\u6d4b\uff0c\u6216\u9488\u5bf9KANSL1\u57fa\u56e0\u7684\u57fa\u56e0panel\u68c0\u6d4b\u3001\u5916\u663e\u5b50\u7ec4\u6d4b\u5e8f\u6765\u786e\u8bca\u3002\u56fd\u9645\u6743\u5a01\u4e34\u5e8a\u9057\u4f20\u5b66\u8d44\u6e90<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK24676\/\" target=\"_blank\" rel=\"noopener\">GeneReviews<\/a>\u8be6\u7ec6\u6574\u7406\u4e86\u68c0\u6d4b\u6d41\u7a0b\u4e0e\u968f\u8bbf\u5efa\u8bae\uff0c\u662f\u4e3b\u6cbb\u533b\u751f\u53ca\u4e34\u5e8a\u9057\u4f20\u5b66\u4e13\u79d1\u533b\u751f\u5236\u5b9a\u8bca\u7597\u65b9\u6848\u65f6\u5e38\u53c2\u8003\u7684\u8d44\u6599\u3002<\/p>\n\n<h2><span class=\"ez-toc-section\" id=\"%E6%B2%BB%E7%96%97%E3%80%81%E5%BA%B7%E5%A4%8D%E8%AE%AD%E7%BB%83%E4%B8%8E%E9%A2%84%E5%90%8E\"><\/span>\u6cbb\u7597\u3001\u5eb7\u590d\u8bad\u7ec3\u4e0e\u9884\u540e<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n<p><strong>\u76ee\u524d\u5c1a\u65e0\u80fd\u591f\u9006\u8f6c\u81f4\u75c5\u57fa\u56e0\u53d8\u5316\u7684\u6839\u6cbb\u7597\u6cd5\uff0c\u4f46\u9488\u5bf9\u75c7\u72b6\u7684\u533b\u7597\u7ba1\u7406\u914d\u5408\u65e9\u671f\u5eb7\u590d\u8bad\u7ec3\uff0c\u53ef\u4ee5\u5927\u5e45\u63d0\u5347\u60a3\u513f\u7684\u751f\u6d3b\u8d28\u91cf\u3002<\/strong>\u786e\u8bca\u5e76\u975e\u7ec8\u70b9\uff0c\u800c\u662f\u5e2e\u52a9\u5b69\u5b50\u53d1\u6325\u6f5c\u529b\u7684\u8d77\u70b9\u3002<\/p>\n\n<p>\u652f\u6301\u65b9\u6848\u9700\u8981\u591a\u4e2a\u4e13\u79d1\u534f\u4f5c\uff0c\u5e76\u6839\u636e\u6bcf\u4e2a\u5b69\u5b50\u7684\u5177\u4f53\u75c7\u72b6\u800c\u5b9a\u3002\u5a74\u5e7c\u513f\u671f\u5c24\u5176\u8981\u91cd\u89c6\u766b\u75eb\u7ba1\u7406\u548c\u5fc3\u810f\u75c5\u7684\u5b9a\u671f\u8bc4\u4f30\u3002<\/p>\n\n<ul>\n<li><strong>\u53d1\u80b2\u652f\u6301\u30fb\u5eb7\u590d\u8bad\u7ec3<\/strong>\uff1a\u6839\u636e\u5b69\u5b50\u7684\u53d1\u80b2\u9636\u6bb5\uff0c\u7ed3\u5408\u8bed\u8a00\u8bad\u7ec3\u4e0e\u7269\u7406\u6cbb\u7597\u3002<\/li>\n<li><strong>\u766b\u75eb\u7ba1\u7406<\/strong>\uff1a\u6839\u636e\u53d1\u4f5c\u7c7b\u578b\u8c03\u6574\u6297\u766b\u75eb\u836f\u7269\uff0c\u5e76\u5b9a\u671f\u8fdb\u884c\u8111\u7535\u56fe\u68c0\u67e5\u968f\u8bbf\u3002<\/li>\n<li><strong>\u5fc3\u810f\u53ca\u6ccc\u5c3f\u751f\u6b96\u7cfb\u7edf\u8bc4\u4f30<\/strong>\uff1a\u51fa\u751f\u540e\u5c3d\u65e9\u8fdb\u884c\u5fc3\u810f\u8d85\u58f0\u548c\u80be\u810f\u8d85\u58f0\u68c0\u67e5\uff0c\u786e\u8ba4\u662f\u5426\u5b58\u5728\u5408\u5e76\u75c7\u3002<\/li>\n<\/ul>\n\n<p>\u8fd9\u7c7b\u5b69\u5b50\u5f80\u5f80\u6027\u683c\u6e29\u548c\u3001\u4eb2\u5207\u53cb\u5584\uff0c\u8fd9\u4e00\u7279\u70b9\u4e5f\u8ba9\u4ed6\u4eec\u66f4\u5bb9\u6613\u63a5\u53d7\u5404\u79cd\u652f\u6301\u8bad\u7ec3\uff0c\u8bb8\u591a\u5bb6\u957f\u53cd\u6620\u5eb7\u590d\u8bad\u7ec3\u7684\u6548\u679c\u6bd4\u8f83\u660e\u663e\u3002\u5f53\u7136\u4e2a\u4f53\u5dee\u5f02\u59cb\u7ec8\u5b58\u5728\uff0c\u4f46\u6211\u5728\u95e8\u8bca\u4e2d\u4e5f\u66fe\u591a\u6b21\u770b\u5230\uff0c\u53ca\u65e9\u83b7\u5f97\u9002\u5f53\u652f\u6301\u7684\u5b69\u5b50\u7a33\u6b65\u6210\u957f\u3001\u80fd\u529b\u4e0d\u65ad\u63d0\u5347\u3002\u4e0e\u5176\u88ab\u8bca\u65ad\u540d\u79f0\u6240\u56f0\u6270\uff0c\u4e0d\u5982\u4e0e\u4e13\u79d1\u533b\u751f\u4e00\u8d77\u601d\u8003\u4e0b\u4e00\u6b65\u8be5\u600e\u4e48\u505a\uff0c\u8fd9\u624d\u662f\u771f\u6b63\u6709\u52a9\u4e8e\u5b69\u5b50\u672a\u6765\u7684\u505a\u6cd5\u3002<\/p>\n\n<h2><span class=\"ez-toc-section\" id=\"%E5%AE%B6%E5%BA%AD%E7%9A%84%E8%B4%9F%E6%8B%85%E4%B8%8E%E6%94%AF%E6%8C%81%E4%BD%93%E7%B3%BB\"><\/span>\u5bb6\u5ead\u7684\u8d1f\u62c5\u4e0e\u652f\u6301\u4f53\u7cfb<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n<p><strong>\u7531\u4e8e\u5f80\u5f80\u9700\u8981\u957f\u671f\u7684\u5eb7\u590d\u8bad\u7ec3\u548c\u5c31\u8bca\uff0c\u5bb6\u5ead\u5728\u7ecf\u6d4e\u548c\u5fc3\u7406\u4e0a\u90fd\u5bb9\u6613\u627f\u53d7\u8f83\u5927\u538b\u529b\u3002<\/strong>\u4e0d\u8981\u72ec\u81ea\u627f\u62c5\uff0c\u5584\u7528\u516c\u5171\u652f\u6301\u5236\u5ea6\u548c\u4e13\u4e1a\u673a\u6784\u7684\u5e2e\u52a9\u975e\u5e38\u91cd\u8981\u3002<\/p>\n\n<p>\u5f53\u5730\u7684\u5eb7\u590d\u8bad\u7ec3\u4e2d\u5fc3\u548c\u513f\u7ae5\u53d1\u5c55\u652f\u6301\u673a\u6784\uff0c\u4ece\u5bb6\u957f\u5f00\u59cb&#8221;\u611f\u89c9\u54ea\u91cc\u4e0d\u592a\u4e00\u6837&#8221;\u7684\u9636\u6bb5\u8d77\uff0c\u5373\u4fbf\u5c1a\u672a\u786e\u8bca\u4e5f\u53ef\u4ee5\u8fdb\u884c\u54a8\u8be2\u3002\u65e5\u672c\u513f\u7ae5\u5bb6\u5ead\u5385\u4e5f\u63d0\u4f9b\u4e86\u9488\u5bf9\u6b8b\u969c\u513f\u7ae5\u652f\u6301\u7684\u6574\u4f53\u4fe1\u606f\uff0c\u5efa\u8bae\u5c3d\u65e9\u8054\u7cfb\u5f53\u5730\u76f8\u5173\u7a97\u53e3\uff0c\u5bb6\u5ead\u65e0\u9700\u72ec\u81ea\u627f\u62c5\u6240\u6709\u5224\u65ad\u3002<\/p>\n\n\n    <a href=\"\/nipt\/14q11-q22-deletion-syndrome\/?lang=zh-hans\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">14q11-q22 \u6b20\u5931\u75c7\u5019\u7fa4 <\/div>\n          <div class=\"blog-card-excerpt\">\u30b6\u30d2\u30fc\u30eb\u30fb\u30d5\u30ea\u30fc\u30c9\u30de\u30f3\u75c7\u5019\u7fa4\uff08ZFS\uff09\u306f\u300114q11-q22\u9818\u57df\u306e\u6b20\u5931\u304c\u539f\u56e0\u3068\u306a\u308b\u7a00\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002CHD8\u304a\u3088\u3073SUPT16H\u907a\u4f1d\u5b50\u306e\u7570...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<h2><span class=\"ez-toc-section\" id=\"Hiro_Clinic_NIPT%E8%83%BD%E4%B8%BA%E6%82%A8%E6%8F%90%E4%BE%9B%E4%BB%80%E4%B9%88\"><\/span>Hiro Clinic NIPT\u80fd\u4e3a\u60a8\u63d0\u4f9b\u4ec0\u4e48<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n<p><strong>Hiro Clinic NIPT\u662f\u4e00\u5bb6\u4e13\u4e1a\u7684\u4ea7\u524d\u68c0\u6d4b\u8bca\u6240\uff0c\u4e3a\u5ba2\u6237\u63d0\u4f9b\u4ece\u68c0\u6d4b\u3001\u7ed3\u679c\u8bf4\u660e\uff0c\u5230\u9633\u6027\u7ed3\u679c\u540e\u7eed\u54a8\u8be2\u7684\u4e00\u7ad9\u5f0f\u652f\u6301\u3002<\/strong>\u9488\u5bf917q21.31\u7f3a\u5931\u7efc\u5408\u5f81\u8fd9\u7c7b\u7f55\u89c1\u75be\u75c5\uff0c\u6211\u4eec\u4e5f\u529b\u6c42\u63d0\u4f9b\u6709\u5145\u5206\u4f9d\u636e\u7684\u8bf4\u660e\u3002<\/p>\n\n<p>\u8fc4\u4eca\u4e3a\u6b62\uff0c\u6211\u4eec\u5df2\u5b8c\u6210<strong>\u8d85\u8fc775,000\u4f8b<\/strong>\u68c0\u6d4b\uff0c\u6240\u6709\u68c0\u6d4b\u9879\u76ee\u7684\u7075\u654f\u5ea6\u5747\u572899.9%\u4ee5\u4e0a\uff0c\u7ed3\u679c\u62a5\u544a\u7387\u8fbe99.98%\u3002\u68c0\u6d4b\u7531\u65e5\u672c\u56fd\u5185\u68c0\u6d4b\u673a\u6784\uff08\u4e1c\u4eac\u536b\u751f\u68c0\u67e5\u6240\uff09\u5408\u4f5c\u5b8c\u6210\uff0c\u6700\u5feb2\u81f35\u5929\u5373\u53ef\u83b7\u5f97\u62a5\u544a\u3002\u4ea7\u79d1\u4e13\u79d1\u533b\u751f\u3001\u513f\u79d1\u4e13\u79d1\u533b\u751f\u4e0e\u4e34\u5e8a\u9057\u4f20\u5b66\u4e13\u79d1\u533b\u751f\u5171\u540c\u534f\u4f5c\uff0c\u5e76\u7531\u533b\u751f\u63d0\u4f9b\u9057\u4f20\u54a8\u8be2\u670d\u52a1\u3002<\/p>\n\n<p>\u5982\u679c\u6269\u5c55\u68c0\u6d4b\u7ed3\u679c\u663e\u793a\u5fae\u7f3a\u5931\u9633\u6027\uff0c\u6211\u4eec\u7684\u652f\u6301\u5e76\u4e0d\u4f1a\u5c31\u6b64\u7ed3\u675f\u3002\u6211\u4eec\u63d0\u4f9b\u786e\u8bca\u68c0\u6d4b\uff08\u5982\u7f8a\u6c34\u7a7f\u523a\uff09\u7684\u8d39\u7528\u8865\u52a9\u5236\u5ea6\uff0c\u5373\u4fbf\u662f\u5728\u5176\u4ed6\u533b\u9662\u8fdb\u884c\u7684\u7f8a\u6c34\u7a7f\u523a\uff0c\u4e5f\u540c\u6837\u9002\u7528\u8be5\u8865\u52a9\u3002\u68c0\u6d4b\u4e0d\u8bbe\u5e74\u9f84\u9650\u5236\uff0c\u4e5f\u65e0\u9700\u8f6c\u8bca\u4fe1\u3002\u5982\u679c\u4e0d\u786e\u5b9a\u54ea\u79cd\u68c0\u6d4b\u9879\u76ee\u9002\u5408\u81ea\u5df1\uff0c\u8bf7\u4e0d\u8981\u72ec\u81ea\u5224\u65ad\uff0c\u6b22\u8fce\u968f\u65f6\u54a8\u8be2\u3002<\/p>\n\n<div class=\"cta-box\" style=\"text-align:center;margin:2em 0;padding:1.2em;background:#fff5f7;border-radius:12px;\">\n<p style=\"font-weight:bold;margin-bottom:0.8em;\">\u25bc \u5bf9\u68c0\u6d4b\u7ed3\u679c\u611f\u5230\u4e0d\u5b89\uff1f<\/p>\n<p style=\"margin:0.4em 0;\"><a href=\"https:\/\/mypage-nipt-reservation.hiro-clinic.or.jp\/registration\" target=\"_blank\" rel=\"noopener\" style=\"display:inline-block;padding:0.7em 1.6em;background:#e8608a;color:#fff;border-radius:30px;text-decoration:none;font-weight:bold;\">\u9884\u7ea6NIPT\u68c0\u6d4b<\/a><\/p>\n<p style=\"margin:0.4em 0;\"><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/plan-finder\/?lang=en\" target=\"_blank\" rel=\"noopener\" style=\"display:inline-block;padding:0.7em 1.6em;background:#06c755;color:#fff;border-radius:30px;text-decoration:none;font-weight:bold;\">\u68c0\u6d4b\u65b9\u6848\u8bca\u65ad<\/a><\/p>\n<\/div>\n\n\n\n<h2><span class=\"ez-toc-section\" id=\"%E7%9B%B8%E5%85%B3%E7%96%BE%E7%97%85%E5%BB%B6%E4%BC%B8%E9%98%85%E8%AF%BB\"><\/span>\u76f8\u5173\u75be\u75c5\u5ef6\u4f38\u9605\u8bfb<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n<p>\u4e0e17q21.31\u7f3a\u5931\u7efc\u5408\u5f81\u7c7b\u4f3c\uff0c\u7531\u5fae\u7f3a\u5931\u6216\u5fae\u91cd\u590d\u5f15\u8d77\u7684\u75be\u75c5\u8fd8\u6709\u5f88\u591a\u3002\u5982\u679c\u60a8\u60f3\u8fdb\u4e00\u6b65\u4e86\u89e3\u53d1\u751f\u673a\u5236\u76f8\u4f3c\u7684\u75be\u75c5\uff0c\u53ef\u53c2\u8003\u4ee5\u4e0b\u6587\u7ae0\u3002<\/p>\n\n<ul>\n<li><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/17q23-1-q23-2-microdeletion-syndrome\/\">17q23.1-q23.2\u5fae\u7f3a\u5931\u7efc\u5408\u5f81<\/a>\uff1a\u540c\u6837\u53d1\u751f\u572817\u53f7\u67d3\u8272\u4f53\u957f\u81c2\uff0c\u4f46\u4f4d\u7f6e\u66f4\u9760\u8fdc\u7aef\u7684\u5fae\u7f3a\u5931\u75be\u75c5\u3002<\/li>\n<li><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/11q22-2-q22-3-microdeletion-syndrome\/?lang=zh-hans\">11q22.2-q22.3\u5fae\u7f3a\u5931\u7efc\u5408\u5f81<\/a>\uff1a\u53e6\u4e00\u79cd\u4f34\u6709\u53d1\u80b2\u8fdf\u7f13\u7684\u5e38\u67d3\u8272\u4f53\u5fae\u7f3a\u5931\u75be\u75c5\u3002<\/li>\n<\/ul>\n\n\n    <a href=\"\/nipt\/5q12_deletion_syndrome\/?lang=zh-hans\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">5q12\u6b20\u5931\u75c7\u5019\u7fa4 <\/div>\n          <div class=\"blog-card-excerpt\">5q12\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u30015\u756a\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u6b20\u5931\u306b\u3088\u308b\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3001\u767a\u9054\u9045\u5ef6\u3084\u884c\u52d5\u554f\u984c\u3001\u5185\u81d3\u306e\u7570\u5e38\u304c\u7279\u5fb4\u3067\u3059\u3002\u6cbb\u7642\u6cd5\u3084\u4e88\u5f8c\u3001\u5bb6\u65cf\u306e\u8ca0\u62c5\u8efd\u6e1b\u7b56\u306b\u3064\u3044...<\/div>\n      <\/div>\n    <\/a>\n\n<h2><span class=\"ez-toc-section\" id=\"%E5%B8%B8%E8%A7%81%E9%97%AE%E9%A2%98%EF%BC%88FAQ%EF%BC%89\"><\/span>\u5e38\u89c1\u95ee\u9898\uff08FAQ\uff09<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n<p>\u4ee5\u4e0b\u6574\u7406\u4e86\u5173\u4e8e17q21.31\u7f3a\u5931\u7efc\u5408\u5f81\uff08Koolen-de Vries\u7efc\u5408\u5f81\uff09\u7684\u5e38\u89c1\u95ee\u9898\uff0c\u60a8\u53ef\u4ee5\u76f4\u63a5\u67e5\u770b\u5173\u5fc3\u7684\u90e8\u5206\u3002<\/p>\n\n<h3><span class=\"ez-toc-section\" id=\"17q2131%E7%BC%BA%E5%A4%B1%E7%BB%BC%E5%90%88%E5%BE%81%E4%B8%8EKoolen-de_Vries%E7%BB%BC%E5%90%88%E5%BE%81%E6%98%AF%E5%90%8C%E4%B8%80%E7%A7%8D%E7%97%85%E5%90%97%EF%BC%9F\"><\/span>17q21.31\u7f3a\u5931\u7efc\u5408\u5f81\u4e0eKoolen-de Vries\u7efc\u5408\u5f81\u662f\u540c\u4e00\u79cd\u75c5\u5417\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n<p>\u662f\u540c\u4e00\u79cd\u75c5\u3002\u8be5\u75c5\u539f\u672c\u79f0\u4e3a&#8221;17q21.31\u5fae\u7f3a\u5931\u7efc\u5408\u5f81&#8221;\uff0c\u540e\u6765\u53d1\u73b0\u5373\u4fbf\u6ca1\u6709\u7f3a\u5931\uff0c\u4ec5KANSL1\u57fa\u56e0\u672c\u8eab\u53d1\u751f\u53d8\u5f02\u4e5f\u4f1a\u5bfc\u81f4\u76f8\u540c\u75c7\u72b6\uff0c\u56e0\u6b64\u76ee\u524d\u56fd\u9645\u4e0a\u9010\u6e10\u7edf\u4e00\u4f7f\u7528&#8221;Koolen-de Vries\u7efc\u5408\u5f81&#8221;\u8fd9\u4e00\u540d\u79f0\u3002<\/p>\n\n<h3><span class=\"ez-toc-section\" id=\"%E8%BF%99%E6%98%AF%E9%81%97%E4%BC%A0%E6%80%A7%E7%96%BE%E7%97%85%E5%90%97%EF%BC%9F%E8%BF%98%E6%98%AF%E7%AA%81%E5%8F%91%E6%80%A7%E7%9A%84%EF%BC%9F\"><\/span>\u8fd9\u662f\u9057\u4f20\u6027\u75be\u75c5\u5417\uff1f\u8fd8\u662f\u7a81\u53d1\u6027\u7684\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n<p>\u591a\u6570\u75c5\u4f8b\u5c5e\u4e8e\u5076\u53d1\u7684\u65b0\u53d1\u7a81\u53d8\uff08de novo\uff09\uff0c\u5e76\u975e\u7236\u6bcd\u4efb\u4f55\u4e00\u65b9\u6240\u81f4\u3002\u4e0d\u8fc7\uff0c\u82e5\u75c5\u56e0\u4e3aKANSL1\u57fa\u56e0\u672c\u8eab\u7684\u53d8\u5f02\uff0c\u5219\u53ef\u80fd\u9075\u5faa\u5e38\u67d3\u8272\u4f53\u663e\u6027\u9057\u4f20\u65b9\u5f0f\uff0c\u6781\u5c11\u6570\u60c5\u51b5\u4e0b\u4e5f\u6709\u4ece\u7236\u6bcd\u4e00\u65b9\u9057\u4f20\u800c\u6765\u7684\u62a5\u544a\u3002\u786e\u8bca\u540e\u5efa\u8bae\u54a8\u8be2\u4e34\u5e8a\u9057\u4f20\u5b66\u4e13\u79d1\u533b\u751f\u3002<\/p>\n\n<h3><span class=\"ez-toc-section\" id=\"%E5%B8%B8%E8%A7%84NIPT%E8%83%BD%E6%A3%80%E6%B5%8B%E5%87%BA17q2131%E7%BC%BA%E5%A4%B1%E7%BB%BC%E5%90%88%E5%BE%81%E5%90%97%EF%BC%9F\"><\/span>\u5e38\u89c4NIPT\u80fd\u68c0\u6d4b\u51fa17q21.31\u7f3a\u5931\u7efc\u5408\u5f81\u5417\uff1f<span 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