{"id":84229,"date":"2024-11-15T16:00:09","date_gmt":"2024-11-15T07:00:09","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/17q12-deletion-syndrome\/"},"modified":"2026-07-12T21:19:07","modified_gmt":"2026-07-12T12:19:07","slug":"17q12-deletion-syndrome","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/17q12-deletion-syndrome\/?lang=zh-hans","title":{"rendered":"17q12 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style=\"margin:0;padding-left:1.2em;\">\n<li>17q12\u7f3a\u5931\u7efc\u5408\u5f81\u662f\u600e\u6837\u7684\u67d3\u8272\u4f53\u53d8\u5316\uff08HNF1B\u57fa\u56e0\u4e0e\u7ea61.4~1.5Mb\u7684\u91cd\u590d\u6027\u7f3a\u5931\u533a\u57df\uff09<\/li>\n<li>\u80be\u810f\u5f02\u5e38\u30fbMODY5\u578b\u7cd6\u5c3f\u75c5\u30fb\u795e\u7ecf\u53d1\u80b2\u969c\u788d\u7b49\u4e3b\u8981\u75c7\u72b6\u53ca\u5404\u81ea\u7684\u5927\u81f4\u62a5\u544a\u9891\u7387<\/li>\n<li>\u9057\u4f20\u65b9\u5f0f\uff08\u65b0\u53d1\u7a81\u53d8\u4e0e\u5bb6\u65cf\u6027\u9057\u4f20\uff09\u53ca\u5bf9\u4e0b\u4e00\u80ce\u7684\u5f71\u54cd<\/li>\n<li>\u4ea7\u524d\u68c0\u67e5\u30fbNIPT\u5728\u54ea\u4e9b\u60c5\u51b5\u4e0b\u53ef\u4ee5\u3001\u54ea\u4e9b\u60c5\u51b5\u4e0b\u65e0\u6cd5\u6d89\u53ca\u8be5\u75be\u75c5<\/li>\n<li>\u786e\u8bca\u524d\u9700\u8981\u7ecf\u8fc7\u7684\u68c0\u67e5\u6d41\u7a0b\uff08\u67d3\u8272\u4f53\u5fae\u9635\u5217\u5206\u6790\u7b49\uff09<\/li>\n<li>\u6cbb\u7597\u65b9\u9488\u4ee5\u53ca\u5bb6\u5ead\u53ef\u4ee5\u4f9d\u9760\u7684\u652f\u6301\u6e20\u9053<\/li>\n<\/ul>\n<\/div>\n\n\n\n\n\n\n<div 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/17q12-deletion-syndrome\/?lang=zh-hans\/#4_%E7%97%85%E5%9B%A0%E4%B8%8E%E9%81%97%E4%BC%A0%E6%96%B9%E5%BC%8F%EF%BC%88%E6%96%B0%E5%8F%91%E7%AA%81%E5%8F%98%E4%B8%8E%E5%AE%B6%E6%97%8F%E6%80%A7%E9%81%97%E4%BC%A0%EF%BC%89\" >4. \u75c5\u56e0\u4e0e\u9057\u4f20\u65b9\u5f0f\uff08\u65b0\u53d1\u7a81\u53d8\u4e0e\u5bb6\u65cf\u6027\u9057\u4f20\uff09<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/17q12-deletion-syndrome\/?lang=zh-hans\/#%E6%96%B0%E5%8F%91%E7%AA%81%E5%8F%98%EF%BC%88%E5%81%B6%E5%8F%91%E6%80%A7%E5%8F%98%E5%8C%96%EF%BC%89%E7%9A%84%E6%83%85%E5%86%B5\" >\u65b0\u53d1\u7a81\u53d8\uff08\u5076\u53d1\u6027\u53d8\u5316\uff09\u7684\u60c5\u51b5<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-7\" 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class=\"ez-toc-link ez-toc-heading-13\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/17q12-deletion-syndrome\/?lang=zh-hans\/#7_%E6%B2%BB%E7%96%97%E4%B8%8E%E6%94%AF%E6%8C%81\" >7. \u6cbb\u7597\u4e0e\u652f\u6301<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/17q12-deletion-syndrome\/?lang=zh-hans\/#8_%E9%A2%84%E5%90%8E%E4%B8%8E%E5%B1%95%E6%9C%9B\" >8. \u9884\u540e\u4e0e\u5c55\u671b<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-15\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/17q12-deletion-syndrome\/?lang=zh-hans\/#9_%E5%AE%B6%E5%BA%AD%E6%94%AF%E6%8C%81%E4%B8%8E%E8%80%83%E8%99%91%E4%B8%8B%E4%B8%80%E8%83%8E%E6%97%B6%E7%9A%84%E6%B3%A8%E6%84%8F%E4%BA%8B%E9%A1%B9\" >9. \u5bb6\u5ead\u652f\u6301\u4e0e\u8003\u8651\u4e0b\u4e00\u80ce\u65f6\u7684\u6ce8\u610f\u4e8b\u9879<\/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\/17q12-deletion-syndrome\/?lang=zh-hans\/#%E8%BF%99%E7%A7%8D%E7%97%85%E4%B8%80%E5%AE%9A%E4%BC%9A%E5%8F%91%E5%B1%95%E6%88%90%E7%B3%96%E5%B0%BF%E7%97%85%E5%90%97%EF%BC%9F\" >\u8fd9\u79cd\u75c5\u4e00\u5b9a\u4f1a\u53d1\u5c55\u6210\u7cd6\u5c3f\u75c5\u5417\uff1f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-19\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/17q12-deletion-syndrome\/?lang=zh-hans\/#17q12%E5%8C%BA%E5%9F%9F%E7%9A%84%E7%BC%BA%E5%A4%B1%E5%8F%AF%E4%BB%A5%E9%80%9A%E8%BF%87NIPT%E6%A3%80%E6%B5%8B%E5%87%BA%E6%9D%A5%E5%90%97%EF%BC%9F\" >17q12\u533a\u57df\u7684\u7f3a\u5931\u53ef\u4ee5\u901a\u8fc7NIPT\u68c0\u6d4b\u51fa\u6765\u5417\uff1f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-20\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/17q12-deletion-syndrome\/?lang=zh-hans\/#%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%E4%BC%9A%E5%BD%B1%E5%93%8D%E4%B8%8B%E4%B8%80%E8%83%8E%E5%90%97%EF%BC%9F\" >\u8fd9\u662f\u9057\u4f20\u6027\u75be\u75c5\u5417\uff1f\u4f1a\u5f71\u54cd\u4e0b\u4e00\u80ce\u5417\uff1f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-21\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/17q12-deletion-syndrome\/?lang=zh-hans\/#%E9%80%9A%E8%BF%87%E4%BB%80%E4%B9%88%E6%A3%80%E6%9F%A5%E5%8F%AF%E4%BB%A5%E7%A1%AE%E8%AF%8A%EF%BC%9F\" >\u901a\u8fc7\u4ec0\u4e48\u68c0\u67e5\u53ef\u4ee5\u786e\u8bca\uff1f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-22\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/17q12-deletion-syndrome\/?lang=zh-hans\/#%E8%82%BE%E8%84%8F%E5%BC%82%E5%B8%B8%E7%9A%84%E5%8F%91%E7%94%9F%E9%A2%91%E7%8E%87%E6%9C%89%E5%A4%9A%E9%AB%98%EF%BC%9F\" >\u80be\u810f\u5f02\u5e38\u7684\u53d1\u751f\u9891\u7387\u6709\u591a\u9ad8\uff1f<\/a><\/li><\/ul><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E4%BB%80%E4%B9%88%E6%98%AF17q12%E7%BC%BA%E5%A4%B1%E7%BB%BC%E5%90%88%E5%BE%81%EF%BC%88%E6%9F%93%E8%89%B2%E4%BD%93%E7%97%85%E5%9B%A0%EF%BC%89\"><\/span><strong>1. \u4ec0\u4e48\u662f17q12\u7f3a\u5931\u7efc\u5408\u5f81\uff08\u67d3\u8272\u4f53\u75c5\u56e0\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>17q12\u7f3a\u5931\u7efc\u5408\u5f81\u662f\u4e00\u79cd\u90bb\u8fd1\u57fa\u56e0\u7efc\u5408\u5f81\uff0c\u75c5\u56e0\u662f17\u53f7\u67d3\u8272\u4f53\u957f\u81c212\u533a\u57df\u4e2d\u5305\u542bHNF1B\u57fa\u56e0\u7684\u4e00\u6bb5\u533a\u57df\u4ece\u51fa\u751f\u8d77\u5c31\u53d1\u751f\u7f3a\u5931\u3002<\/strong>\u4e5f\u88ab\u79f0\u4e3a\u201c17q12\u91cd\u590d\u6027\u7f3a\u5931\u7efc\u5408\u5f81\u201d\u3002<\/p>\n\n\n\n<p>\u5728\u5927\u591a\u6570\u62a5\u544a\u75c5\u4f8b\u4e2d\uff0c\u7f3a\u5931\u8303\u56f4\u9ad8\u5ea6\u4e00\u81f4\uff0c\u7ea6\u4e3a1.4~1.5Mb\uff08\u5146\u78b1\u57fa\uff09\u3002\u8be5\u533a\u57df\u5305\u542bHNF1B\u5728\u5185\u768415\u4e2a\u4ee5\u4e0a\u57fa\u56e0\u3002\u7531\u4e8e\u8be5\u533a\u57df\u4e24\u4fa7\u5b58\u5728\u76f8\u540c\u7684\u91cd\u590d\u5e8f\u5217\uff0c\u5bb9\u6613\u53d1\u751f\u540c\u6e90\u91cd\u7ec4\uff0c\u56e0\u6b64\u4e0d\u540c\u60a3\u8005\u5f80\u5f80\u4f1a\u53cd\u590d\u51fa\u73b0\u51e0\u4e4e\u76f8\u540c\u8303\u56f4\u7684\u7f3a\u5931\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"HNF1B%E5%9F%BA%E5%9B%A0%E7%9A%84%E4%BD%9C%E7%94%A8\"><\/span><strong>HNF1B\u57fa\u56e0\u7684\u4f5c\u7528<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>HNF1B\u662f\u4e00\u79cd\u7f16\u7801\u8f6c\u5f55\u56e0\u5b50\u86cb\u767d\u8d28\u7684\u57fa\u56e0\uff0c\u53c2\u4e0e\u80be\u810f\u3001\u80f0\u817a\u3001\u809d\u810f\u3001\u8111\u53ca\u751f\u6b96\u5668\u5b98\u7684\u53d1\u80b2\u3002\u5728\u80ce\u513f\u671f\uff0c\u8fd9\u4e9b\u5668\u5b98\u5f62\u6210\u8fc7\u7a0b\u4e2d\uff0cHNF1B\u627f\u62c5\u7740\u8c03\u63a7\u4f17\u591a\u5176\u4ed6\u57fa\u56e0\u6d3b\u52a8\u7684\u4f5c\u7528\u3002<\/p>\n\n\n\n<p>\u7531\u4e8e\u5305\u542b\u8be5\u57fa\u56e0\u7684\u6574\u4e2a\u533a\u57df\u53d1\u751f\u7f3a\u5931\uff0c\u5f71\u54cd\u5f80\u5f80\u4e0d\u5c40\u9650\u4e8e\u80be\u810f\uff0c\u8fd8\u4f1a\u6ce2\u53ca\u591a\u4e2a\u5668\u5b98\u3002<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/13297\/chromosome-17q12-deletion-syndrome\" target=\"_blank\" rel=\"noopener\">\u7f8e\u56fd\u56fd\u7acb\u536b\u751f\u7814\u7a76\u9662\u65d7\u4e0b\u7684GARD\uff08\u7f55\u89c1\u75be\u75c5\u4fe1\u606f\u4e2d\u5fc3\uff09<\/a>\u5c06\u8be5\u75be\u75c5\u7684\u7279\u5f81\u6982\u62ec\u4e3a\u4e09\u5927\u652f\u67f1\uff1a\u80be\u810f\u5f02\u5e38\u3001\u7cd6\u5c3f\u75c5\u4e0e\u795e\u7ecf\u53d1\u80b2\u969c\u788d\u3002<\/p>\n\n\n\n<p>\u5927\u89c4\u6a21\u4eba\u7fa4\u7814\u7a76\u663e\u793a\uff0c\u8be5\u75c5\u7684\u53d1\u751f\u9891\u7387\u7ea6\u4e3a<strong>6,250\u4eba\u4e2d1\u4eba<\/strong>\u3002\u5728\u5fae\u5c0f\u7f3a\u5931\u7efc\u5408\u5f81\u4e2d\uff0c\u5c5e\u4e8e\u76f8\u5bf9\u5e38\u89c1\u7684\u7c7b\u578b\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E4%B8%8EHNF1B%E5%9F%BA%E5%9B%A0%E2%80%9C%E7%82%B9%E7%AA%81%E5%8F%98%E2%80%9D%E7%9A%84%E5%8C%BA%E5%88%AB\"><\/span><strong>2. \u4e0eHNF1B\u57fa\u56e0\u201c\u70b9\u7a81\u53d8\u201d\u7684\u533a\u522b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u540c\u6837\u6d89\u53caHNF1B\u8fd9\u4e00\u57fa\u56e0\u540d\u79f0\uff0c\u4f46\u6574\u4e2a\u57fa\u56e0\u7f3a\u5931\u4e0e\u57fa\u56e0\u5185\u90e8\u5c40\u90e8\u53d1\u751f\u53d8\u5316\uff0c\u4e24\u79cd\u60c5\u51b5\u6240\u5448\u73b0\u7684\u75c7\u72b6\u8303\u56f4\u5e76\u4e0d\u76f8\u540c\u3002<\/strong><\/p>\n\n\n\n<figure class=\"wp-table-block\"><table><thead><tr><th>\u6bd4\u8f83\u9879\u76ee<\/th><th>HNF1B\u70b9\u7a81\u53d8\uff08\u80be\u56ca\u80bf\u30fb\u7cd6\u5c3f\u75c5\u7efc\u5408\u5f81\uff09<\/th><th>17q12\u7f3a\u5931\u7efc\u5408\u5f81\uff08\u672c\u6587\uff09<\/th><\/tr><\/thead><tbody><tr><td>\u57fa\u56e0\u53d8\u5316<\/td><td>\u4ec5HNF1B\u57fa\u56e0\u5185\u90e8\u5c40\u90e8\u53d1\u751f\u53d8\u5316<\/td><td>HNF1B\u53ca\u5176\u5468\u8fb9\u7ea615\u4e2a\u57fa\u56e0\u6574\u4f53\u7f3a\u5931<\/td><\/tr><tr><td>\u4e3b\u8981\u75c7\u72b6<\/td><td>\u4ee5\u80be\u810f\u5f02\u5e38\u548c\u7cd6\u5c3f\u75c5\u4e3a\u4e3b<\/td><td>\u80be\u810f\u5f02\u5e38\u30fb\u7cd6\u5c3f\u75c5\u4e4b\u5916\uff0c\u795e\u7ecf\u53d1\u80b2\u969c\u788d\u7684\u62a5\u544a\u9891\u7387\u4e5f\u8f83\u9ad8<\/td><\/tr><tr><td>\u522b\u540d<\/td><td>RCAD\uff08\u80be\u56ca\u80bf\u30fb\u7cd6\u5c3f\u75c5\u7efc\u5408\u5f81\uff09<\/td><td>17q12\u91cd\u590d\u6027\u7f3a\u5931\u7efc\u5408\u5f81<\/td><\/tr><tr><td>\u795e\u7ecf\u53d1\u80b2\u969c\u788d\u7684\u5b9a\u4f4d<\/td><td>\u5e76\u975e\u5fc5\u7136\u51fa\u73b0\u7684\u8868\u73b0<\/td><td>\u7ea6\u534a\u6570\u75c5\u4f8b\u62a5\u544a\u5b58\u5728\u53d1\u80b2\u8fdf\u7f13\u6216\u81ea\u95ed\u75c7\u8c31\u7cfb\u76f8\u5173\u7279\u5f81<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<p>\u4ec5\u4e3a\u70b9\u7a81\u53d8\u65f6\uff0c\u80be\u810f\u548c\u7cd6\u5c3f\u75c5\u95ee\u9898\u5f80\u5f80\u662f\u4e3b\u8981\u8868\u73b0\uff1b\u800c\u7f3a\u5931\u578b\u7531\u4e8e\u5468\u8fb9\u57fa\u56e0\u4e5f\u540c\u65f6\u4e22\u5931\uff0c\u795e\u7ecf\u53d1\u80b2\u65b9\u9762\u7684\u5f71\u54cd\u66f4\u5bb9\u6613\u53e0\u52a0\u51fa\u73b0\u3002\u5373\u4f7f\u68c0\u67e5\u7ed3\u679c\u53ea\u5199\u7740\u201cHNF1B\u201d\uff0c\u4e5f\u5efa\u8bae\u4e0e\u4e3b\u6cbb\u533b\u751f\u786e\u8ba4\u6e05\u695a\u7a76\u7adf\u662f\u70b9\u7a81\u53d8\u8fd8\u662f\u533a\u57df\u7f3a\u5931\uff0c\u56e0\u4e3a\u4e24\u8005\u9884\u671f\u7684\u75c5\u7a0b\u6709\u6240\u4e0d\u540c\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E4%B8%BB%E8%A6%81%E7%97%87%E7%8A%B6\"><\/span><strong>3. \u4e3b\u8981\u75c7\u72b6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u80be\u810f\u5f02\u5e38\u3001\u9752\u5c11\u5e74\u671f\u53d1\u75c5\u7684\u7cd6\u5c3f\u75c5\u3001\u795e\u7ecf\u53d1\u80b2\u969c\u788d\u662f\u4e09\u5927\u4ee3\u8868\u6027\u75c7\u72b6\uff0c\u5176\u8868\u73b0\u65b9\u5f0f\u4e0e\u4e25\u91cd\u7a0b\u5ea6\u56e0\u4eba\u800c\u5f02\u3002<\/strong>GARD\u5bf9\u5404\u75c7\u72b6\u7684\u5927\u81f4\u62a5\u544a\u9891\u7387\u6574\u7406\u5982\u4e0b\u3002<\/p>\n\n\n\n<figure class=\"wp-table-block\"><table><thead><tr><th>\u75c7\u72b6\u5206\u7c7b<\/th><th>\u62a5\u544a\u9891\u7387\u53c2\u8003<\/th><\/tr><\/thead><tbody><tr><td>\u80be\u810f\u5f02\u5e38\uff08\u591a\u53d1\u6027\u80be\u56ca\u80bf\u30fb\u80be\u53d1\u80b2\u4e0d\u826f\u30fb\u9a6c\u8e44\u80be\u7b49\u7ed3\u6784\u6216\u529f\u80fd\u5f02\u5e38\uff09<\/td><td>\u7ea685~90%<\/td><\/tr><tr><td>MODY5\uff08\u9752\u5c11\u5e74\u53d1\u75c5\u6210\u4eba\u578b\u7cd6\u5c3f\u75c55\u578b\uff09<\/td><td>\u7ea640%\uff08\u591a\u6570\u572825\u5c81\u524d\u786e\u8bca\uff09<\/td><\/tr><tr><td>\u795e\u7ecf\u53d1\u80b2\u969c\u788d\u30fb\u7cbe\u795e\u75be\u75c5\uff08\u53d1\u80b2\u8fdf\u7f13\u3001\u81ea\u95ed\u75c7\u8c31\u7cfb\u969c\u788d\u3001\u6ce8\u610f\u7f3a\u9677\u591a\u52a8\u969c\u788d\u3001\u7cbe\u795e\u5206\u88c2\u75c7\u7b49\uff09<\/td><td>\u7ea650%<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<p>\u80be\u810f\u5f02\u5e38\u662f\u62a5\u544a\u9891\u7387\u6700\u9ad8\u7684\u8868\u73b0\uff0c\u591a\u6570\u60c5\u51b5\u4e0b\u6700\u65e9\u5728\u4ea7\u524d\u8d85\u58f0\u68c0\u67e5\u4e2d\uff0c\u4ee5\u80be\u56ca\u80bf\u6216\u80be\u810f\u589e\u5927\u7684\u5f62\u5f0f\u88ab\u53d1\u73b0\u3002\u65e0\u8bba\u51fa\u751f\u65f6\u662f\u5426\u5df2\u51fa\u73b0\u660e\u663e\u75c7\u72b6\uff0c\u4e4b\u540e\u90fd\u9700\u8981\u575a\u6301\u957f\u671f\u968f\u8bbf\u89c2\u5bdf\uff0c\u56e0\u4e3a\u80be\u529f\u80fd\u7684\u4e0b\u964d\u6709\u65f6\u8981\u7ecf\u8fc7\u4e00\u6bb5\u65f6\u95f4\u624d\u4f1a\u663e\u73b0\u51fa\u6765\u3002<\/p>\n\n\n\n<p>\u6b64\u5904\u7684\u7cd6\u5c3f\u75c5\u4e0e\u81ea\u8eab\u514d\u75ab\u76f8\u5173\u76841\u578b\u7cd6\u5c3f\u75c5\u673a\u5236\u4e0d\u540c\uff0c\u662f\u80f0\u817a\u5206\u6ccc\u80f0\u5c9b\u7d20\u7684\u7ec6\u80de\u672c\u8eab\u529f\u80fd\u51cf\u5f31\u6240\u81f4\uff0c\u591a\u5728\u9752\u6625\u671f\u5230\u6210\u5e74\u65e9\u671f\u4e4b\u95f4\u53d1\u75c5\u3002<\/p>\n\n\n\n<p>\u5728\u795e\u7ecf\u53d1\u80b2\u65b9\u9762\uff0c\u90e8\u5206\u60a3\u513f\u8bed\u8a00\u6216\u8fd0\u52a8\u53d1\u80b2\u8f83\u6162\uff0c\u4e5f\u6709\u90e8\u5206\u60a3\u513f\u5177\u6709\u81ea\u95ed\u75c7\u8c31\u7cfb\u76f8\u5173\u7279\u5f81\u3002\u4e5f\u6709\u6210\u5e74\u540e\u51fa\u73b0\u7126\u8651\u6216\u60c5\u7eea\u6ce2\u52a8\u7684\u62a5\u544a\u75c5\u4f8b\uff0c\u4f46\u540c\u6837\u6709\u76f8\u5f53\u4e00\u90e8\u5206\u60a3\u8005\u5e76\u672a\u51fa\u73b0\u4efb\u4f55\u53d1\u80b2\u65b9\u9762\u7684\u95ee\u9898\u3002<\/p>\n\n\n\n<p>\u6b64\u5916\uff0c\u8fd8\u53ef\u80fd\u4f34\u6709\u8f7b\u5ea6\u809d\u529f\u80fd\u6307\u6807\u5f02\u5e38\u3001\u80f0\u817a\u53d1\u80b2\u4e0d\u826f\uff0c\u5973\u6027\u60a3\u8005\u6709\u65f6\u53ef\u89c1\u5b50\u5bab\u7ed3\u6784\u5f02\u5e38\u3002\u8fd9\u4e9b\u5747\u975e\u6240\u6709\u60a3\u8005\u5171\u6709\u7684\u8868\u73b0\uff0c<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/13297\/chromosome-17q12-deletion-syndrome\" target=\"_blank\" rel=\"noopener\">\u7f8e\u56fd\u56fd\u7acb\u536b\u751f\u7814\u7a76\u9662\u65d7\u4e0b\u7684GARD<\/a>\u4e5f\u7279\u522b\u5f3a\u8c03\u4e86\u8be5\u75c5\u4e2a\u4f53\u5dee\u5f02\u4e4b\u5927\u3002<\/p>\n\n\n\n<p>\u5173\u4e8e\u53d1\u80b2\u7279\u5f81\uff0c\u53ef\u53c2\u8003\u6211\u4eec\u7684\u6587\u7ae0<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-autism-developmental-disorders-detection\/\">NIPT\u4e0e\u53d1\u80b2\u969c\u788d\u30fb\u81ea\u95ed\u75c7<\/a>\uff08\u65e5\u6587\uff09\uff1b\u5173\u4e8e\u667a\u529b\u53d1\u80b2\u7684\u4e2a\u4f53\u5dee\u5f02\uff0c\u53ef\u53c2\u8003<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-intellectual-disability-traits-development\/\">NIPT\u6240\u63ed\u793a\u7684\u667a\u529b\u969c\u788d\u771f\u5b9e\u60c5\u51b5<\/a>\uff08\u65e5\u6587\uff09\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E7%97%85%E5%9B%A0%E4%B8%8E%E9%81%97%E4%BC%A0%E6%96%B9%E5%BC%8F%EF%BC%88%E6%96%B0%E5%8F%91%E7%AA%81%E5%8F%98%E4%B8%8E%E5%AE%B6%E6%97%8F%E6%80%A7%E9%81%97%E4%BC%A0%EF%BC%89\"><\/span><strong>4. \u75c5\u56e0\u4e0e\u9057\u4f20\u65b9\u5f0f\uff08\u65b0\u53d1\u7a81\u53d8\u4e0e\u5bb6\u65cf\u6027\u9057\u4f20\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u7ea675%\u7684\u75c5\u4f8b\u5c5e\u4e8e\u5076\u53d1\u6027\u7a81\u53d8\uff08\u65b0\u53d1\u7a81\u53d8\uff09\uff0c\u5176\u4f59\u7ea625%\u5219\u9057\u4f20\u81ea\u7236\u6bcd\u4e00\u65b9\u3002\u5373\u4f7f\u662f\u540c\u4e00\u5bb6\u65cf\u4e2d\u643a\u5e26\u76f8\u540c\u7f3a\u5931\u7684\u6210\u5458\uff0c\u75c7\u72b6\u8868\u73b0\u4e5f\u53ef\u80fd\u6709\u5f88\u5927\u5dee\u5f02\u3002<\/strong><\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%96%B0%E5%8F%91%E7%AA%81%E5%8F%98%EF%BC%88%E5%81%B6%E5%8F%91%E6%80%A7%E5%8F%98%E5%8C%96%EF%BC%89%E7%9A%84%E6%83%85%E5%86%B5\"><\/span><strong>\u65b0\u53d1\u7a81\u53d8\uff08\u5076\u53d1\u6027\u53d8\u5316\uff09\u7684\u60c5\u51b5<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5728\u5375\u5b50\u6216\u7cbe\u5b50\u5f62\u6210\u8fc7\u7a0b\u4e2d\uff0c\u6216\u53d7\u7cbe\u540e\u4e0d\u4e45\u7684\u7ec6\u80de\u5206\u88c2\u9636\u6bb5\uff0c\u6709\u65f6\u4f1a\u5076\u7136\u53d1\u751f\u7c7b\u4f3c\u590d\u5236\u9519\u8bef\u7684\u53d8\u5316\u3002\u8fd9\u5e76\u975e\u7531\u5b55\u671f\u996e\u98df\u3001\u751f\u6d3b\u4e60\u60ef\u6216\u5de5\u4f5c\u7b49\u56e0\u7d20\u5f15\u8d77\u3002\u5728\u95e8\u8bca\u4e2d\uff0c\u6211\u4eec\u59cb\u7ec8\u4f1a\u5411\u5bb6\u957f\u8bf4\u660e\uff0c\u8fd9\u79cd\u60c5\u51b5\u5b8c\u5168\u4e0d\u9700\u8981\u81ea\u8d23\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%AE%B6%E6%97%8F%E6%80%A7%E9%81%97%E4%BC%A0%E4%B8%8E%E6%98%BE%E6%80%A7%E9%81%97%E4%BC%A0%E6%96%B9%E5%BC%8F\"><\/span><strong>\u5bb6\u65cf\u6027\u9057\u4f20\u4e0e\u663e\u6027\u9057\u4f20\u65b9\u5f0f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>17q12\u7f3a\u5931\u7efc\u5408\u5f81\u9075\u5faa<strong>\u5e38\u67d3\u8272\u4f53\u663e\u6027\u9057\u4f20<\/strong>\u65b9\u5f0f\uff08\u4ece\u7236\u6bcd\u4e00\u65b9\u9057\u4f20\u4e00\u4efd\u53d8\u5316\u5373\u53ef\u81f4\u75c5\uff09\u3002\u82e5\u7236\u6bcd\u4e00\u65b9\u643a\u5e26\u76f8\u540c\u7f3a\u5931\uff0c\u6bcf\u4e00\u6b21\u598a\u5a20\u90fd\u6709\u7ea650%\u7684\u6982\u7387\u9057\u4f20\u7ed9\u4e0b\u4e00\u4e2a\u5b69\u5b50\u3002<\/p>\n\n\n\n<p>\u503c\u5f97\u6ce8\u610f\u7684\u662f\uff0c\u5373\u4f7f\u643a\u5e26\u5b8c\u5168\u76f8\u540c\u7f3a\u5931\u7684\u5bb6\u65cf\u6210\u5458\u4e4b\u95f4\uff0c\u80be\u810f\u72b6\u6001\u548c\u53d1\u80b2\u60c5\u51b5\u4e5f\u53ef\u80fd\u5b58\u5728\u660e\u663e\u5dee\u5f02\u3002\u8fd9\u662f\u7531\u4e8e\u201c\u5916\u663e\u7387\u201d\u548c\u201c\u8868\u73b0\u5ea6\u201d\u5e76\u4e0d\u56fa\u5b9a\uff0c\u4e5f\u6709\u62a5\u544a\u75c5\u4f8b\u663e\u793a\uff0c\u7236\u6bcd\u4e00\u65b9\u4ec5\u6709\u8f7b\u5ea6\u80be\u56ca\u80bf\uff0c\u6b64\u524d\u4ece\u672a\u88ab\u786e\u8bca\u3002<\/p>\n\n\n\n<p>\u5b69\u5b50\u786e\u8bca\u540e\uff0c\u901a\u8fc7\u5bf9\u7236\u6bcd\u53cc\u65b9\u8fdb\u884c\u67d3\u8272\u4f53\u5fae\u9635\u5217\u68c0\u67e5\uff0c\u53ef\u4ee5\u5224\u65ad\u8be5\u7f3a\u5931\u5c5e\u4e8e\u65b0\u53d1\u7a81\u53d8\u8fd8\u662f\u5bb6\u65cf\u9057\u4f20\uff0c\u8fd9\u662f\u51c6\u786e\u638c\u63e1\u5bf9\u4e0b\u4e00\u80ce\u5f71\u54cd\u7684\u91cd\u8981\u4e00\u6b65\u3002\u5982\u679c\u60a8\u5bf9\u4e0b\u4e00\u80ce\u5fc3\u5b58\u7591\u8651\uff0c\u5efa\u8bae\u5411\u4e34\u5e8a\u9057\u4f20\u4e13\u79d1\u533b\u751f\u6216\u8ba4\u8bc1\u9057\u4f20\u54a8\u8be2\u5e08\u5bfb\u6c42\u9057\u4f20\u54a8\u8be2\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"5_%E4%B8%8E%E4%BA%A7%E5%89%8D%E6%A3%80%E6%9F%A5%E3%83%BBNIPT%E7%9A%84%E5%85%B3%E7%B3%BB\"><\/span><strong>5. \u4e0e\u4ea7\u524d\u68c0\u67e5\u30fbNIPT\u7684\u5173\u7cfb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>17q12\u533a\u57df\u7684\u7f3a\u5931\u901a\u5e38\u4e0d\u5305\u542b\u5728\u57fa\u7840\u7248NIPT\u68c0\u6d4b\u8303\u56f4\u5185\uff0c\u53ea\u6709\u5728\u5c06\u68c0\u6d4b\u8303\u56f4\u6269\u5927\u5230\u5fae\u5c0f\u7f3a\u5931\u7684\u6269\u5c55\u68c0\u67e5\u4e2d\uff0c\u624d\u6709\u53ef\u80fd\u4f5c\u4e3a\u5019\u9009\u9879\u76ee\u51fa\u73b0\u3002<\/strong><\/p>\n\n\n\n<p>\u4e00\u822c\u7684\u57fa\u7840\u7248NIPT\u4e3b\u8981\u68c0\u6d4b21\u30fb18\u30fb13\u4e09\u4f53\u8fd9\u7c7b\u67d3\u8272\u4f53\u201c\u6570\u76ee\u201d\u5f02\u5e38\u3002\u90e8\u5206\u65b9\u6848\u4e5f\u4f1a\u6db5\u76d622q11.2\u7f3a\u5931\u7efc\u5408\u5f81\uff08\u8fea\u683c\u5965\u5c14\u683c\u7efc\u5408\u5f81\uff09\u7b49\u9891\u7387\u8f83\u9ad8\u7684\u5fae\u5c0f\u7f3a\u5931\u3002\u6211\u4eec\u533b\u9662\u7684NIPT\u6269\u5c55\u68c0\u67e5\u6db5\u76d6\u5305\u62ec\u5fae\u5c0f\u7f3a\u5931\u30fb\u91cd\u590d\u5728\u5185\u5171143\u4e2a\u9879\u76ee\uff0c17q12\u533a\u57df\u4e5f\u662f\u5176\u68c0\u6d4b\u5bf9\u8c61\u4e4b\u4e00\u3002<\/p>\n\n\n\n<p>\u5b9e\u9645\u4e34\u5e8a\u4e2d\uff0c\u6709\u65f6\u662f\u56e0\u4e3a\u4ea7\u524d\u8d85\u58f0\u68c0\u67e5\u53d1\u73b0\u80ce\u513f\u53cc\u4fa7\u80be\u810f\u589e\u5927\uff0c\u6216\u5b58\u5728\u80be\u56ca\u80bf\uff0c\u624d\u5728\u9057\u4f20\u54a8\u8be2\u8fc7\u7a0b\u4e2d\u63d0\u53ca17q12\u533a\u57df\u53ef\u80fd\u76f8\u5173\u3002\u80be\u810f\u65b9\u9762\u7684\u8868\u73b0\u5148\u4e8e\u57fa\u56e0\u68c0\u6d4b\u88ab\u53d1\u73b0\uff0c\u662f\u8be5\u75be\u75c5\u7684\u7279\u5f81\u4e4b\u4e00\u3002<\/p>\n\n\n\n<p>\u8fd9\u91cc\u9700\u8981\u7279\u522b\u8bf4\u660e\u7684\u662f\uff0c<strong>NIPT\u7ec8\u7a76\u53ea\u662f\u4e00\u79cd\u975e\u786e\u5b9a\u6027\u7684\u7b5b\u67e5\u68c0\u67e5<\/strong>\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\u7684\u7ed3\u679c\u4ec5\u5c5e\u4e8e\u7b5b\u67e5\u8303\u7574\uff0c\u5e76\u975e\u786e\u5b9a\u6027\u8bca\u65ad\u3002\u65e5\u672c\u539a\u751f\u52b3\u52a8\u7701<a href=\"https:\/\/www.mhlw.go.jp\/content\/000783387.pdf\" target=\"_blank\" rel=\"noopener\">\u5173\u4e8eNIPT\u7b49\u4ea7\u524d\u68c0\u67e5\u7684\u4e13\u95e8\u59d4\u5458\u4f1a\u62a5\u544a<\/a>\uff08\u65e5\u6587\uff09\u4e2d\u540c\u6837\u6307\u51fa\uff0c\u5305\u542b\u5fae\u5c0f\u7f3a\u5931\u7684\u6269\u5c55\u68c0\u67e5\u5728\u5206\u6790\u6709\u6548\u6027\u4e0e\u4e34\u5e8a\u6709\u6548\u6027\u65b9\u9762\u5747\u5b58\u5728\u5c40\u9650\u3002<\/p>\n\n\n\n<p>\u82e5NIPT\u68c0\u6d4b\u51fa\u6d89\u53ca17q12\u533a\u57df\u7684\u5fae\u5c0f\u7f3a\u5931\u9633\u6027\u7ed3\u679c\uff0c\u9996\u5148\u5e94\u901a\u8fc7\u9057\u4f20\u54a8\u8be2\u786e\u8ba4\u7ed3\u679c\u7684\u5177\u4f53\u542b\u4e49\u3002\u5728\u6b64\u57fa\u7840\u4e0a\uff0c\u662f\u5426\u63a5\u53d7\u57fa\u4e8e\u7f8a\u6c34\u68c0\u67e5\u7684\u67d3\u8272\u4f53\u5fae\u9635\u5217\u68c0\u67e5\uff08CMA\uff09\uff0c\u9700\u8981\u592b\u59bb\u53cc\u65b9\u5728\u4e13\u5bb6\u6307\u5bfc\u4e0b\u5171\u540c\u5546\u8bae\u51b3\u5b9a\u3002\u7531\u4e8e\u8fd9\u662f\u6781\u5176\u7f55\u89c1\u7684\u75be\u75c5\uff0c\u8bf7\u52ff\u5728\u62ff\u5230\u9633\u6027\u7ed3\u679c\u7684\u9636\u6bb5\u5c31\u8d38\u7136\u4e0b\u7ed3\u8bba\uff0c\u800c\u5e94\u4e0e\u4e13\u4e1a\u4eba\u58eb\u4e00\u6b65\u4e00\u6b65\u68b3\u7406\u6e05\u695a\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"6_%E7%A1%AE%E8%AF%8A%E5%89%8D%E7%9A%84%E6%A3%80%E6%9F%A5%E6%B5%81%E7%A8%8B\"><\/span><strong>6. \u786e\u8bca\u524d\u7684\u68c0\u67e5\u6d41\u7a0b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u786e\u8bca\u4e3b\u8981\u4f9d\u8d56\u67d3\u8272\u4f53\u5fae\u9635\u5217\u68c0\u67e5\uff08CMA\uff09\u8fd9\u4e00\u7cbe\u5bc6\u68c0\u6d4b\u624b\u6bb5\u3002<\/strong><\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%9F%93%E8%89%B2%E4%BD%93%E5%BE%AE%E9%98%B5%E5%88%97%E6%A3%80%E6%9F%A5%EF%BC%88CMA%EF%BC%89\"><\/span><strong>\u67d3\u8272\u4f53\u5fae\u9635\u5217\u68c0\u67e5\uff08CMA\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8be5\u68c0\u67e5\u80fd\u591f\u68c0\u6d4b\u51fa\u4f20\u7edf\u663e\u5fae\u955c\u67d3\u8272\u4f53\u68c0\u67e5\uff08G\u663e\u5e26\u6cd5\uff09\u65e0\u6cd5\u53d1\u73b0\u7684\u3001\u6570\u767ekb\u5230\u6570Mb\u7ea7\u522b\u7684\u5fae\u5c0f\u7f3a\u5931\u6216\u91cd\u590d\u3002\u4ea7\u524d\u901a\u8fc7\u7f8a\u6c34\u68c0\u67e5\u3001\u51fa\u751f\u540e\u901a\u8fc7\u8840\u6db2\u68c0\u67e5\u5373\u53ef\u8fdb\u884c\uff0c\u80fd\u591f\u8be6\u7ec6\u786e\u8ba4\u7f3a\u5931\u7684\u5177\u4f53\u8303\u56f4\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"FISH%E6%8A%80%E6%9C%AF%E4%B8%8E%E7%88%B6%E6%AF%8D%E6%A3%80%E6%9F%A5\"><\/span><strong>FISH\u6280\u672f\u4e0e\u7236\u6bcd\u68c0\u67e5<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6709\u65f6\u4f1a\u901a\u8fc7FISH\u6280\u672f\u5bf9\u7279\u5b9a\u533a\u57df\u8fdb\u884c\u8367\u5149\u6807\u8bb0\u786e\u8ba4\uff0c\u4ee5\u652f\u6301\u8bca\u65ad\u7ed3\u679c\u3002\u540c\u65f6\u68c0\u67e5\u7236\u6bcd\u53cc\u65b9\u7684\u8840\u6db2\uff0c\u53ef\u4ee5\u5224\u65ad\u8be5\u7f3a\u5931\u5c5e\u4e8e\u65b0\u53d1\u7a81\u53d8\u8fd8\u662f\u5bb6\u65cf\u9057\u4f20\u800c\u6765\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%87%BA%E7%94%9F%E5%90%8E%E7%9A%84%E8%AF%84%E4%BC%B0\"><\/span><strong>\u51fa\u751f\u540e\u7684\u8bc4\u4f30<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u786e\u8bca\u540e\uff0c\u9700\u8981\u7efc\u5408\u80be\u810f\u8d85\u58f0\u68c0\u67e5\u3001\u80be\u529f\u80fd\u68c0\u67e5\u3001\u8840\u7cd6\u76d1\u6d4b\u53ca\u53d1\u80b2\u8bc4\u4f30\u7b49\u591a\u9879\u68c0\u67e5\uff0c\u5168\u9762\u638c\u63e1\u5b69\u5b50\u7684\u5065\u5eb7\u72b6\u51b5\u3002\u7531\u4e8e\u80be\u810f\u72b6\u6001\u4f1a\u968f\u6210\u957f\u800c\u53d1\u751f\u53d8\u5316\uff0c\u575a\u6301\u5b9a\u671f\u968f\u8bbf\u81f3\u5173\u91cd\u8981\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"7_%E6%B2%BB%E7%96%97%E4%B8%8E%E6%94%AF%E6%8C%81\"><\/span><strong>7. \u6cbb\u7597\u4e0e\u652f\u6301<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u76ee\u524d\u5c1a\u65e0\u6cd5\u4ece\u6839\u672c\u4e0a\u4fee\u590d\u7f3a\u5931\u7684\u67d3\u8272\u4f53\u7247\u6bb5\uff0c\u4f46\u901a\u8fc7\u9488\u5bf9\u80be\u810f\u3001\u7cd6\u5c3f\u75c5\u3001\u53d1\u80b2\u5404\u65b9\u9762\u7684\u4e13\u4e1a\u7ba1\u7406\u4e0e\u652f\u6301\uff0c\u53ef\u4ee5\u5e2e\u52a9\u5b69\u5b50\u5065\u5eb7\u6210\u957f\u3002<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u80be\u810f\u7ba1\u7406<\/strong>\uff1a\u4e0e\u5c0f\u513f\u80be\u810f\u5185\u79d1\u5408\u4f5c\uff0c\u5b9a\u671f\u8fdb\u884c\u80be\u529f\u80fd\u68c0\u67e5\u4e0e\u8840\u538b\u7ba1\u7406\u3002\u82e5\u80be\u529f\u80fd\u663e\u8457\u4e0b\u964d\uff0c\u672a\u6765\u4e5f\u53ef\u80fd\u8003\u8651\u900f\u6790\u6216\u80be\u79fb\u690d\u3002<\/li>\n\n\n\n<li><strong>\u7cd6\u5c3f\u75c5\u7ba1\u7406<\/strong>\uff1a\u901a\u8fc7\u996e\u98df\u7597\u6cd5\u3001\u53e3\u670d\u836f\u7269\uff0c\u5fc5\u8981\u65f6\u914d\u5408\u80f0\u5c9b\u7d20\u6cbb\u7597\u6765\u63a7\u5236\u8840\u7cd6\u3002\u53d1\u75c5\u5e74\u9f84\u4e0e\u75c5\u60c5\u8fdb\u5c55\u56e0\u4eba\u800c\u5f02\u3002<\/li>\n\n\n\n<li><strong>\u53d1\u80b2\u652f\u6301\uff08\u5eb7\u590d\u8bad\u7ec3\uff09<\/strong>\uff1a\u901a\u8fc7\u7269\u7406\u6cbb\u7597\uff08PT\uff09\u3001\u4f5c\u4e1a\u6cbb\u7597\uff08OT\uff09\u3001\u8bed\u8a00\u6cbb\u7597\uff08ST\uff09\u7b49\u65b9\u5f0f\uff0c\u4fc3\u8fdb\u8fd0\u52a8\u3001\u8bed\u8a00\u4e0e\u65e5\u5e38\u751f\u6d3b\u80fd\u529b\u7684\u53d1\u5c55\u3002<\/li>\n\n\n\n<li><strong>\u6559\u80b2\u73af\u5883\u7684\u9009\u62e9<\/strong>\uff1a\u4e0e\u5f53\u5730\u6559\u80b2\u652f\u6301\u673a\u6784\u534f\u5546\uff0c\u6839\u636e\u5b69\u5b50\u7684\u5177\u4f53\u7279\u70b9\uff0c\u9009\u62e9\u7279\u6b8a\u6559\u80b2\u5b66\u6821\u3001\u7279\u6b8a\u6559\u80b2\u73ed\u6216\u8d44\u6e90\u6559\u5ba4\u7b49\u9002\u5408\u7684\u5b66\u4e60\u73af\u5883\u3002<\/li>\n<\/ul>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2024\/09\/30218734_s.jpg\" alt=\"\u533b\u751f\u5411\u5bb6\u5c5e\u8bf4\u660e\u57fa\u56e0\u68c0\u6d4b\u7ed3\u679c\u53ca\u540e\u7eed\u5e94\u5bf9\u65b9\u5f0f\" class=\"wp-image-82805\"\/><\/figure><\/div>\n\n\n<p>\u7531\u4e8e\u6bcf\u4f4d\u60a3\u8005\u7684\u75c7\u72b6\u7ec4\u5408\u4e0e\u4e25\u91cd\u7a0b\u5ea6\u5404\u4e0d\u76f8\u540c\uff0c\u5e76\u4e0d\u5b58\u5728\u201c\u5f97\u4e86\u8fd9\u4e2a\u75c5\u5c31\u4e00\u5b9a\u4f1a\u600e\u6837\u201d\u7684\u56fa\u5b9a\u75c5\u7a0b\u3002\u80be\u810f\u5185\u79d1\u3001\u5185\u5206\u6ccc\u79d1\u3001\u5c0f\u513f\u795e\u7ecf\u79d1\u7b49\u591a\u4e2a\u79d1\u5ba4\u901a\u5e38\u4f1a\u5171\u540c\u534f\u4f5c\uff0c\u4e00\u6b65\u6b65\u4e3a\u5b69\u5b50\u5236\u5b9a\u4e13\u5c5e\u7684\u652f\u6301\u65b9\u6848\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"8_%E9%A2%84%E5%90%8E%E4%B8%8E%E5%B1%95%E6%9C%9B\"><\/span><strong>8. \u9884\u540e\u4e0e\u5c55\u671b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u80be\u529f\u80fd\u4e0e\u53d1\u80b2\u72b6\u51b5\u7684\u5dee\u5f02\u8f83\u5927\uff0c\u65e9\u671f\u5f00\u59cb\u7684\u80be\u529f\u80fd\u968f\u8bbf\u4e0e\u5eb7\u590d\u8bad\u7ec3\uff0c\u5f80\u5f80\u5bf9\u751f\u6d3b\u8d28\u91cf\u5f71\u54cd\u6700\u4e3a\u5173\u952e\u3002<\/strong><\/p>\n\n\n\n<p>\u6709\u4e9b\u60a3\u8005\u80be\u810f\u5f02\u5e38\u8f83\u8f7b\uff0c\u4e5f\u672a\u51fa\u73b0\u660e\u663e\u7684\u7cd6\u5c3f\u75c5\u6216\u53d1\u80b2\u8fdf\u7f13\uff0c\u80fd\u591f\u987a\u5229\u6210\u5e74\uff1b\u4e5f\u6709\u60a3\u8005\u80be\u529f\u80fd\u6301\u7eed\u4e0b\u964d\uff0c\u6700\u7ec8\u9700\u8981\u63a5\u53d7\u900f\u6790\u6216\u80be\u79fb\u690d\u3002\u8fd9\u79cd\u5dee\u5f02\uff0c\u88ab\u8ba4\u4e3a\u4e0e\u7f3a\u5931\u8303\u56f4\u53ca\u4e2a\u4f53\u5916\u663e\u7387\u7684\u4e0d\u540c\u6709\u5173\u3002<\/p>\n\n\n\n<p>\u7531\u4e8e\u76ee\u524d\u75c5\u4f8b\u6570\u91cf\u6709\u9650\uff0c\u5bf9\u957f\u671f\u75c5\u7a0b\u505a\u51fa\u660e\u786e\u65ad\u8a00\u4ecd\u6709\u96be\u5ea6\u3002\u5173\u952e\u5728\u4e8e\u901a\u8fc7\u5b9a\u671f\u80be\u529f\u80fd\u68c0\u67e5\u5b9e\u73b0\u65e9\u671f\u53d1\u73b0\uff0c\u5e76\u6301\u7eed\u505a\u597d\u65e5\u5e38\u5e94\u5bf9\u2014\u2014\u6211\u4eec\u8ba4\u4e3a\uff0c\u8fd9\u624d\u662f\u7ef4\u6301\u751f\u6d3b\u8d28\u91cf\u7684\u73b0\u5b9e\u8def\u5f84\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"9_%E5%AE%B6%E5%BA%AD%E6%94%AF%E6%8C%81%E4%B8%8E%E8%80%83%E8%99%91%E4%B8%8B%E4%B8%80%E8%83%8E%E6%97%B6%E7%9A%84%E6%B3%A8%E6%84%8F%E4%BA%8B%E9%A1%B9\"><\/span><strong>9. \u5bb6\u5ead\u652f\u6301\u4e0e\u8003\u8651\u4e0b\u4e00\u80ce\u65f6\u7684\u6ce8\u610f\u4e8b\u9879<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u4f5c\u4e3a\u4e00\u79cd\u7f55\u89c1\u75be\u75c5\uff0c\u5b64\u72ec\u611f\u5f80\u5f80\u8f83\u4e3a\u5f3a\u70c8\uff0c\u4f46\u9057\u4f20\u54a8\u8be2\u3001\u60a3\u8005\u4e92\u52a9\u56e2\u4f53\u3001\u516c\u5171\u54a8\u8be2\u7a97\u53e3\u7b49\uff0c\u90fd\u662f\u503c\u5f97\u4f9d\u9760\u7684\u8d44\u6e90\u3002<\/strong><\/p>\n\n\n\n<p>\u5728\u8eab\u8fb9\u627e\u5230\u60a3\u6709\u76f8\u540c\u75be\u75c5\u7684\u5b69\u5b50\u6216\u8bb8\u5e76\u4e0d\u5bb9\u6613\uff0c\u4f46\u4ecd\u7136\u53ef\u4ee5\u501f\u52a9\u4e0e\u5176\u4ed6\u67d3\u8272\u4f53\u76f8\u5173\u7f55\u89c1\u75be\u75c5\u5bb6\u5ead\u4e4b\u95f4\u7684\u8054\u7cfb\uff0c\u4ee5\u53ca\u9057\u4f20\u54a8\u8be2\u63d0\u4f9b\u7684\u4e13\u4e1a\u652f\u6301\u3002\u533b\u7597\u65b9\u9762\u7684\u7ba1\u7406\u53ef\u4ee5\u4ea4\u7ed9\u533b\u751f\u4e0e\u5eb7\u590d\u8bad\u7ec3\u56e2\u961f\uff0c\u800c\u5bb6\u5ead\u7684\u89d2\u8272\uff0c\u6211\u4eec\u8ba4\u4e3a\uff0c\u662f\u966a\u4f34\u5b69\u5b50\u4e00\u8d77\u4e3a\u773c\u524d\u6bcf\u4e00\u4e2a\u5fae\u5c0f\u7684\u6210\u957f\u800c\u6b23\u559c\u3002<\/p>\n\n\n\n<p>\u5982\u679c\u60a8\u8fd8\u5173\u5fc3\u5176\u4ed6\u5fae\u5c0f\u7f3a\u5931\u7efc\u5408\u5f81\uff0c\u6216\u540c\u6837\u6d89\u53ca17\u53f7\u67d3\u8272\u4f53\u7684\u76f8\u5173\u75be\u75c5\uff0c\u6b22\u8fce\u53c2\u8003\u4ee5\u4e0b\u6587\u7ae0\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/xq28-deletion-syndrome\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u67d3\u8272\u4f53Xq28\u6b20\u5931\u75c7\u5019\u7fa4\uff5c\u539f\u56e0\u30fb\u75c7\u72b6\u3068NIPT\u306e\u95a2\u4fc2 <\/div>\n          <div class=\"blog-card-excerpt\">Xq28\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u3001X\u67d3\u8272\u4f53\u306e\u907a\u4f1d\u7684\u6b20\u5931\u306b\u3088\u3063\u3066\u767a\u751f\u3057\u3001\u767a\u9054\u9045\u5ef6\u3001\u77e5\u7684\u969c\u5bb3\u3001\u884c\u52d5\u7570\u5e38\u306a\u3069\u306e\u75c7\u72b6\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002\u9069\u5207\u306a\u7642\u80b2\u3068\u533b\u7642\u652f\u63f4\u306b\u3088\u308a...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n    <a href=\"\/nipt\/5q14_3_deletion_syndrome-proximal-2\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">5q14.3\u6b20\u5931\u75c7\u5019\u7fa4 <\/div>\n          <div class=\"blog-card-excerpt\">\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3042\u308b\u6bdb\u7d30\u8840\u7ba1\u5947\u5f62\u75c7\u5019\u7fa4\uff08CM-AVM\uff09\u3001MEF2C\u95a2\u9023\u75be\u60a3\u3001\u30a2\u30c3\u30b7\u30e3\u30fc\u75c7\u5019\u7fa42\u578b\uff08USH2\uff09\u306e\u75c7\u72b6\u3001\u539f\u56e0\u3001\u8a3a\u65ad\u65b9\u6cd5\u3001\u6cbb\u7642\u30fb\u7ba1\u7406\u6cd5...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n    <a href=\"\/nipt\/17p12-deletion-syndrome-charcot-marie-tooth-disease-type-1a\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">17p12 \u6b20\u5931\u75c7\u5019\u7fa4 (\u30b7\u30e3\u30eb\u30b3\u30fc\u30fb\u30de\u30ea\u30fc\u30fb\u30c8\u30a5\u30fc\u30b9\u75c51A\u578b) <\/div>\n          <div class=\"blog-card-excerpt\">17p12\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u3001\u30b7\u30e3\u30eb\u30b3\u30fc\u30fb\u30de\u30ea\u30fc\u30fb\u30c8\u30a5\u30fc\u30b9\u75c51A\u578b\u3092\u5f15\u304d\u8d77\u3053\u3059\u907a\u4f1d\u7684\u75be\u60a3\u3067\u3059\u3002\u7b4b\u529b\u4f4e\u4e0b\u3084\u611f\u899a\u7570\u5e38\u3001\u8db3\u306e\u5909\u5f62\u304c\u4e3b\u306a\u75c7\u72b6\u3067\u3001\u9032\u884c\u6027\u3067\u3059...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<p>\u5982\u679c\u60a8\u5bf9\u5fae\u5c0f\u7f3a\u5931\u6574\u4f53\u5b58\u5728\u62c5\u5fe7\uff0c\u4e5f\u53ef\u4ee5\u53c2\u8003\u6211\u4eec\u7684\u6587\u7ae0<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-microdeletion-risks\/?lang=zh-hans\">\u67d3\u8272\u4f53\u5fae\u5c0f\u5f02\u5e38\u5e26\u6765\u7684\u9690\u533f\u6027\u969c\u788d\u98ce\u9669<\/a>\u3002<\/p>\n\n\n\n<div class=\"wp-block-buttons is-content-justification-center is-layout-flex wp-container-core-buttons-is-layout-16018d1d wp-block-buttons-is-layout-flex\">\n<div class=\"wp-block-button\"><a class=\"wp-block-button__link wp-element-button\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/line-registration\/?lang=zh-hans\" target=\"_blank\" rel=\"noopener\">\u901a\u8fc7LINE\u514d\u8d39\u54a8\u8be2<\/a><\/div>\n<\/div>\n\n\n\n<p>\u82e5\u60a8\u6b63\u5728\u4e3a\u4e0b\u4e00\u80ce\u8003\u8651NIPT\u68c0\u67e5\uff0c\u68c0\u6d4b\u8303\u56f4\u662f\u5426\u8986\u76d6\u5fae\u5c0f\u7f3a\u5931\uff0c\u5c06\u76f4\u63a5\u5f71\u54cd\u9002\u5408\u60a8\u7684\u68c0\u6d4b\u65b9\u6848\u3002\u5982\u679c\u4e0d\u786e\u5b9a\u54ea\u79cd\u65b9\u6848\u9002\u5408\u81ea\u5df1\uff0c\u6b22\u8fce\u5c1d\u8bd5\u6211\u4eec\u7684<strong><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/plan-finder\/?lang=en\">\u65b9\u6848\u8bca\u65ad\u5de5\u5177<\/a><\/strong>\uff08\u65e5\u6587\uff09\u3002\u4e5f\u6b22\u8fce\u901a\u8fc7\u7535\u8bdd\u54a8\u8be2\uff0c\u8bf7\u968f\u65f6\u62e8\u6253<a href=\"tel:0120169629\">0120-169-629<\/a>\u4e0e\u6211\u4eec\u8054\u7cfb\u3002<\/p>\n\n\n\n<div class=\"wp-block-buttons is-content-justification-center is-layout-flex wp-container-core-buttons-is-layout-16018d1d wp-block-buttons-is-layout-flex\">\n<div class=\"wp-block-button\"><a class=\"wp-block-button__link wp-element-button\" href=\"https:\/\/mypage-nipt-reservation.hiro-clinic.or.jp\/registration\" target=\"_blank\" rel=\"noopener\">\u9884\u7ea6NIPT\u68c0\u6d4b<\/a><\/div>\n\n\n\n<div class=\"wp-block-button is-style-outline is-style-outline--1\"><a class=\"wp-block-button__link wp-element-button\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/plan-finder\/?lang=en\" target=\"_blank\" rel=\"noopener\">\u901a\u8fc7\u65b9\u6848\u8bca\u65ad\u5bfb\u627e\u9002\u5408\u81ea\u5df1\u7684\u68c0\u67e5\uff08\u65e5\u6587\uff09<\/a><\/div>\n<\/div>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%B8%B8%E8%A7%81%E9%97%AE%E9%A2%98\"><\/span><strong>\u5e38\u89c1\u95ee\u9898<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"17q12%E7%BC%BA%E5%A4%B1%E7%BB%BC%E5%90%88%E5%BE%81%E4%B8%8EHNF1B%E5%9F%BA%E5%9B%A0%E7%82%B9%E7%AA%81%E5%8F%98%EF%BC%88RCAD%EF%BC%89%E6%98%AF%E5%90%8C%E4%B8%80%E7%A7%8D%E7%96%BE%E7%97%85%E5%90%97%EF%BC%9F\"><\/span>17q12\u7f3a\u5931\u7efc\u5408\u5f81\u4e0eHNF1B\u57fa\u56e0\u70b9\u7a81\u53d8\uff08RCAD\uff09\u662f\u540c\u4e00\u79cd\u75be\u75c5\u5417\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u4e25\u683c\u6765\u8bf4\uff0c\u4e8c\u8005\u5c5e\u4e8e\u4e0d\u540c\u7684\u75c5\u75c7\u3002\u4ec5HNF1B\u57fa\u56e0\u5185\u90e8\u53d1\u751f\u70b9\u7a81\u53d8\u65f6\uff0c\u4e3b\u8981\u8868\u73b0\u4e3a\u80be\u810f\u5f02\u5e38\u4e0e\u7cd6\u5c3f\u75c5\uff1b\u800c17q12\u7f3a\u5931\u7efc\u5408\u5f81\u7531\u4e8e\u5468\u8fb9\u57fa\u56e0\u4e5f\u4e00\u5e76\u7f3a\u5931\uff0c\u795e\u7ecf\u53d1\u80b2\u969c\u788d\u7684\u62a5\u544a\u9891\u7387\u4e5f\u76f8\u5bf9\u66f4\u9ad8\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%BF%99%E7%A7%8D%E7%97%85%E4%B8%80%E5%AE%9A%E4%BC%9A%E5%8F%91%E5%B1%95%E6%88%90%E7%B3%96%E5%B0%BF%E7%97%85%E5%90%97%EF%BC%9F\"><\/span>\u8fd9\u79cd\u75c5\u4e00\u5b9a\u4f1a\u53d1\u5c55\u6210\u7cd6\u5c3f\u75c5\u5417\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5e76\u975e\u5fc5\u7136\u3002\u62a5\u544a\u663e\u793a\uff0c\u7ea640%\u7684\u60a3\u8005\u4f1a\u53d1\u5c55\u4e3aMODY5\u578b\u9752\u5c11\u5e74\u53d1\u75c5\u7cd6\u5c3f\u75c5\uff0c\u4e5f\u6709\u76f8\u5f53\u4e00\u90e8\u5206\u60a3\u8005\u59cb\u7ec8\u672a\u53d1\u5c55\u6210\u7cd6\u5c3f\u75c5\u3002\u53d1\u75c5\u65f6\u95f4\u4e0e\u8fdb\u5c55\u901f\u5ea6\u4e5f\u56e0\u4eba\u800c\u5f02\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"17q12%E5%8C%BA%E5%9F%9F%E7%9A%84%E7%BC%BA%E5%A4%B1%E5%8F%AF%E4%BB%A5%E9%80%9A%E8%BF%87NIPT%E6%A3%80%E6%B5%8B%E5%87%BA%E6%9D%A5%E5%90%97%EF%BC%9F\"><\/span>17q12\u533a\u57df\u7684\u7f3a\u5931\u53ef\u4ee5\u901a\u8fc7NIPT\u68c0\u6d4b\u51fa\u6765\u5417\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u901a\u5e38\u4e0d\u5305\u542b\u5728\u57fa\u7840\u7248NIPT\u68c0\u6d4b\u8303\u56f4\u5185\uff0c\u53ea\u6709\u5728\u5c06\u68c0\u6d4b\u8303\u56f4\u6269\u5927\u5230\u5fae\u5c0f\u7f3a\u5931\u7684\u6269\u5c55\u68c0\u67e5\u4e2d\uff0c\u624d\u6709\u53ef\u80fd\u4f5c\u4e3a\u5019\u9009\u9879\u76ee\u51fa\u73b0\u3002\u7531\u4e8eNIPT\u5c5e\u4e8e\u975e\u786e\u5b9a\u6027\u68c0\u67e5\uff0c\u82e5\u51fa\u73b0\u9633\u6027\u7ed3\u679c\uff0c\u9700\u8981\u901a\u8fc7\u7f8a\u6c34\u68c0\u67e5\u7b49\u786e\u5b9a\u6027\u68c0\u67e5\u52a0\u4ee5\u5224\u65ad\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><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%E4%BC%9A%E5%BD%B1%E5%93%8D%E4%B8%8B%E4%B8%80%E8%83%8E%E5%90%97%EF%BC%9F\"><\/span>\u8fd9\u662f\u9057\u4f20\u6027\u75be\u75c5\u5417\uff1f\u4f1a\u5f71\u54cd\u4e0b\u4e00\u80ce\u5417\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u7ea675%\u7684\u75c5\u4f8b\u5c5e\u4e8e\u5076\u53d1\u6027\u7a81\u53d8\uff08\u65b0\u53d1\u7a81\u53d8\uff09\uff0c\u8fd9\u79cd\u60c5\u51b5\u4e0b\u5bf9\u4e0b\u4e00\u80ce\u7684\u590d\u53d1\u98ce\u9669\u901a\u5e38\u8f83\u4f4e\u3002\u4f46\u82e5\u7236\u6bcd\u4e00\u65b9\u643a\u5e26\u76f8\u540c\u7f3a\u5931\uff0c\u5219\u6bcf\u6b21\u598a\u5a20\u7ea6\u670950%\u7684\u6982\u7387\u9057\u4f20\u7ed9\u5b69\u5b50\uff0c\u5efa\u8bae\u901a\u8fc7\u9057\u4f20\u54a8\u8be2\u8fdb\u4e00\u6b65\u786e\u8ba4\u60a8\u7684\u5177\u4f53\u60c5\u51b5\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" 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