{"id":84393,"date":"2024-11-15T14:17:17","date_gmt":"2024-11-15T05:17:17","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/13q14-deletion-syndrome\/"},"modified":"2026-07-12T21:24:44","modified_gmt":"2026-07-12T12:24:44","slug":"13q14-deletion-syndrome","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/13q14-deletion-syndrome\/?lang=zh-hans","title":{"rendered":"13q14 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style=\"margin:0;padding-left:1.2em;\">\n<li>13q14\u7f3a\u5931\u7efc\u5408\u5f81\u662f\u600e\u6837\u7684\u67d3\u8272\u4f53\u53d8\u5316\uff0c\u4e0eRB1\u57fa\u56e0\u7684\u5173\u7cfb<\/li>\n<li>\u53d1\u80b2\u8fdf\u7f13\u3001\u667a\u529b\u969c\u788d\u3001\u9762\u90e8\u7279\u5f81\u7b49\u75c7\u72b6\u56e0\u7f3a\u5931\u8303\u56f4\u4e0d\u540c\u800c\u4ea7\u751f\u7684\u5dee\u5f02<\/li>\n<li>\u89c6\u7f51\u819c\u6bcd\u7ec6\u80de\u7624\uff08\u773c\u90e8\u80bf\u7624\uff09\u7684\u98ce\u9669\u4e0e\u65e9\u671f\u53d1\u73b0\u7684\u5f81\u5146<\/li>\n<li>\u4e0e\u300c13q\u672b\u7aef\u7f3a\u5931\u7efc\u5408\u5f81\u300d\u300c13\u4e09\u4f53\u7efc\u5408\u5f81\uff08\u5e15\u9676\u7efc\u5408\u5f81\uff09\u300d\u7684\u533a\u522b<\/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\u8bca\u65ad\u30fbNIPT\u4e2d\u8be5\u75c5\u5c5e\u4e8e\u68c0\u6d4b\u8303\u56f4\u548c\u4e0d\u5c5e\u4e8e\u68c0\u6d4b\u8303\u56f4\u7684\u60c5\u51b5<\/li>\n<li>\u786e\u8bca\u540e\u7684\u6cbb\u7597\u65b9\u9488\u53ca\u5bb6\u5ead\u53ef\u83b7\u5f97\u7684\u652f\u6301\u9009\u9879<\/li>\n<\/ul>\n<\/div>\n\n\n\n\n\n\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_85 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">\u76ee\u6b21<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/13q14-deletion-syndrome\/?lang=zh-hans\/#5_%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\" >5. \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-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/13q14-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-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/13q14-deletion-syndrome\/?lang=zh-hans\/#%E7%88%B6%E6%AF%8D%E5%B9%B3%E8%A1%A1%E6%98%93%E4%BD%8D%E4%B8%8E%E5%A4%8D%E5%8F%91%E9%A3%8E%E9%99%A9\" >\u7236\u6bcd\u5e73\u8861\u6613\u4f4d\u4e0e\u590d\u53d1\u98ce\u9669<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/13q14-deletion-syndrome\/?lang=zh-hans\/#6_%E4%B8%8E%E4%BA%A7%E5%89%8D%E8%AF%8A%E6%96%AD%E3%83%BBNIPT%E7%9A%84%E5%85%B3%E7%B3%BB\" >6. \u4e0e\u4ea7\u524d\u8bca\u65ad\u30fbNIPT\u7684\u5173\u7cfb<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-12\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/13q14-deletion-syndrome\/?lang=zh-hans\/#7_%E7%A1%AE%E8%AF%8A%E7%9A%84%E6%B5%81%E7%A8%8B\" >7. \u786e\u8bca\u7684\u6d41\u7a0b<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-13\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/13q14-deletion-syndrome\/?lang=zh-hans\/#%E6%9F%93%E8%89%B2%E4%BD%93%E5%BE%AE%E9%98%B5%E5%88%97%E6%A3%80%E6%B5%8B%EF%BC%88CMA%EF%BC%89\" >\u67d3\u8272\u4f53\u5fae\u9635\u5217\u68c0\u6d4b\uff08CMA\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/13q14-deletion-syndrome\/?lang=zh-hans\/#FISH%E6%B3%95%E4%B8%8E%E7%88%B6%E6%AF%8D%E6%A3%80%E6%B5%8B\" >FISH\u6cd5\u4e0e\u7236\u6bcd\u68c0\u6d4b<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-15\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/13q14-deletion-syndrome\/?lang=zh-hans\/#%E5%87%BA%E7%94%9F%E5%90%8E%E7%9A%84%E8%AF%84%E4%BC%B0%EF%BC%88%E5%90%AB%E7%9C%BC%E7%A7%91%E8%AF%84%E4%BC%B0%EF%BC%89\" >\u51fa\u751f\u540e\u7684\u8bc4\u4f30\uff08\u542b\u773c\u79d1\u8bc4\u4f30\uff09<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/13q14-deletion-syndrome\/?lang=zh-hans\/#%E6%B2%BB%E7%96%97\" >\u6cbb\u7597<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/13q14-deletion-syndrome\/?lang=zh-hans\/#%E9%A2%84%E5%90%8E\" >\u9884\u540e<\/a><\/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\/13q14-deletion-syndrome\/?lang=zh-hans\/#%E7%88%B6%E6%AF%8D%E7%9A%84%E8%B4%9F%E6%8B%85%E4%B8%8E%E5%AE%B6%E5%BA%AD%E6%94%AF%E6%8C%81\" >\u7236\u6bcd\u7684\u8d1f\u62c5\u4e0e\u5bb6\u5ead\u652f\u6301<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-19\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/13q14-deletion-syndrome\/?lang=zh-hans\/#%E5%B8%B8%E8%A7%81%E9%97%AE%E9%A2%98\" >\u5e38\u89c1\u95ee\u9898<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-20\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/13q14-deletion-syndrome\/?lang=zh-hans\/#13q14%E7%BC%BA%E5%A4%B1%E7%BB%BC%E5%90%88%E5%BE%81%E4%B8%8E%E3%80%8C13q%E6%9C%AB%E7%AB%AF%E7%BC%BA%E5%A4%B1%E7%BB%BC%E5%90%88%E5%BE%81%E3%80%8D%E6%98%AF%E5%90%8C%E4%B8%80%E7%A7%8D%E7%96%BE%E7%97%85%E5%90%97%EF%BC%9F\" >13q14\u7f3a\u5931\u7efc\u5408\u5f81\u4e0e\u300c13q\u672b\u7aef\u7f3a\u5931\u7efc\u5408\u5f81\u300d\u662f\u540c\u4e00\u79cd\u75be\u75c5\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\/13q14-deletion-syndrome\/?lang=zh-hans\/#13q14%E7%BC%BA%E5%A4%B1%E7%BB%BC%E5%90%88%E5%BE%81%E4%B8%8E13%E4%B8%89%E4%BD%93%E7%BB%BC%E5%90%88%E5%BE%81%EF%BC%88%E5%B8%95%E9%99%B6%E7%BB%BC%E5%90%88%E5%BE%81%EF%BC%89%E7%9B%B8%E5%90%8C%E5%90%97%EF%BC%9F\" >13q14\u7f3a\u5931\u7efc\u5408\u5f81\u4e0e13\u4e09\u4f53\u7efc\u5408\u5f81\uff08\u5e15\u9676\u7efc\u5408\u5f81\uff09\u76f8\u540c\u5417\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\/13q14-deletion-syndrome\/?lang=zh-hans\/#%E6%82%A3%E6%9C%89%E8%AF%A5%E7%97%85%E7%9A%84%E5%AD%A9%E5%AD%90%E4%B8%80%E5%AE%9A%E4%BC%9A%E5%BE%97%E8%A7%86%E7%BD%91%E8%86%9C%E6%AF%8D%E7%BB%86%E8%83%9E%E7%98%A4%E5%90%97%EF%BC%9F\" >\u60a3\u6709\u8be5\u75c5\u7684\u5b69\u5b50\u4e00\u5b9a\u4f1a\u5f97\u89c6\u7f51\u819c\u6bcd\u7ec6\u80de\u7624\u5417\uff1f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-23\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/13q14-deletion-syndrome\/?lang=zh-hans\/#13q14%E7%BC%BA%E5%A4%B1%E7%BB%BC%E5%90%88%E5%BE%81%E5%8F%AF%E4%BB%A5%E9%80%9A%E8%BF%87NIPT%E5%8F%91%E7%8E%B0%E5%90%97%EF%BC%9F\" >13q14\u7f3a\u5931\u7efc\u5408\u5f81\u53ef\u4ee5\u901a\u8fc7NIPT\u53d1\u73b0\u5417\uff1f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-24\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/13q14-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-25\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/13q14-deletion-syndrome\/?lang=zh-hans\/#%E9%80%9A%E8%BF%87%E4%BB%80%E4%B9%88%E6%A3%80%E6%B5%8B%E5%8F%AF%E4%BB%A5%E7%A1%AE%E8%AF%8A%EF%BC%9F\" >\u901a\u8fc7\u4ec0\u4e48\u68c0\u6d4b\u53ef\u4ee5\u786e\u8bca\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%AF13q14%E7%BC%BA%E5%A4%B1%E7%BB%BC%E5%90%88%E5%BE%81%EF%BC%88%E8%87%B4%E7%97%85%E7%9A%84%E6%9F%93%E8%89%B2%E4%BD%93%E5%8F%98%E5%8C%96%E4%B8%8ERB1%E5%9F%BA%E5%9B%A0%EF%BC%89\"><\/span><strong>1. \u4ec0\u4e48\u662f13q14\u7f3a\u5931\u7efc\u5408\u5f81\uff08\u81f4\u75c5\u7684\u67d3\u8272\u4f53\u53d8\u5316\u4e0eRB1\u57fa\u56e0\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u8be5\u75c5\u662f\u630713\u53f7\u67d3\u8272\u4f53\u957f\u81c2\uff08q\uff09\u7b2c14\u53f7\u5e26\uff0c\u4e5f\u5c31\u662f\u300c13q14\u300d\u533a\u57df\u7684\u9057\u4f20\u4fe1\u606f\u5148\u5929\u6027\u7f3a\u5931\u7684\u72b6\u6001\u3002<\/strong>\u8be5\u533a\u57df\u5b58\u5728\u5177\u6709\u6291\u764c\u529f\u80fd\u7684\u300cRB1\u57fa\u56e0\u300d\u3002<\/p>\n\n\n\n<p>\u7f3a\u5931\u7684\u8303\u56f4\u56e0\u4eba\u800c\u5f02\uff0c\u5b66\u672f\u8bba\u6587\u4e2d\u5c06\u5176\u5206\u7c7b\u5982\u4e0b\u3002<\/p>\n\n\n\n<figure class=\"wp-table-block\"><table><thead><tr><th>\u7f3a\u5931\u5927\u5c0f<\/th><th>\u8303\u56f4\u53c2\u8003<\/th><th>\u62a5\u544a\u7684\u503e\u5411<\/th><\/tr><\/thead><tbody><tr><td>\u5c0f\u578b\u7f3a\u5931<\/td><td>13q14\u533a\u57df\u5185\u30fb\u4e0d\u8db36Mb<\/td><td>\u8fd0\u52a8\u3001\u8bed\u8a00\u53d1\u80b2\u8f83\u6162\u7684\u503e\u5411<\/td><\/tr><tr><td>\u4e2d\u578b\u7f3a\u5931<\/td><td>13q12.3\uff5eq21.2\u30fb6\uff5e20Mb<\/td><td>\u8f7b\u5ea6\u81f3\u4e2d\u5ea6\u7cbe\u795e\u8fd0\u52a8\u53d1\u80b2\u8fdf\u7f13<\/td><\/tr><tr><td>\u5927\u578b\u7f3a\u5931<\/td><td>13q12\uff5eq31.2\u30fb20Mb\u4ee5\u4e0a<\/td><td>\u7cbe\u795e\u8fd0\u52a8\u53d1\u80b2\u8fdf\u7f13\u7a0b\u5ea6\u4ece\u8f7b\u5ea6\u5230\u91cd\u5ea6\u4e0d\u7b49<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<p>\u8be5\u5206\u7c7b\u57fa\u4e8e\u4e00\u9879\u9488\u5bf9\u5305\u542bRB1\u57fa\u56e0\u768413q14\u7f3a\u5931\u60a3\u8005\u7684<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC8471443\/\" target=\"_blank\" rel=\"noopener\">\u5b66\u672f\u8bba\u6587<\/a>\u3002\u6b27\u6d32\u7f55\u89c1\u75c5\u6570\u636e\u5e93<a href=\"https:\/\/www.orpha.net\/en\/disease\/detail\/1587\" target=\"_blank\" rel=\"noopener\">Orphanet<\/a>\u4e5f\u4ee5\u767b\u8bb0\u7f16\u53f7\u300cORPHA:1587\u300d\u6536\u5f55\u4e86\u8be5\u75c5\uff0c\u5c5e\u4e8e\u6781\u4e3a\u7f55\u89c1\u7684\u75be\u75c5\u3002\u7531\u4e8e\u65e5\u8bed\u76f8\u5173\u75c5\u4f8b\u62a5\u544a\u8f83\u5c11\uff0c\u51c6\u786e\u7684\u53d1\u75c5\u7387\u5c1a\u672a\u786e\u7acb\u3002<\/p>\n\n\n\n<p>\u5728\u9057\u4f20\u6027\u89c6\u7f51\u819c\u6bcd\u7ec6\u80de\u7624\u4e2d\uff0c\u7ea6\u6709\u4e00\u6210\u662f\u7531\u672c\u6587\u6240\u8ff0\u7684\u5305\u542bRB1\u57fa\u56e0\u7684\u67d3\u8272\u4f53\u7f3a\u5931\u5f15\u8d77\uff0c\u5176\u4f59\u5927\u90e8\u5206\u5219\u6e90\u4e8e\u57fa\u56e0\u5185\u90e8\u7684\u5fae\u5c0f\u53d8\u5f02\uff08\u70b9\u7a81\u53d8\uff09\u3002\u540c\u6837\u5c5e\u4e8e\u300cRB1\u5f02\u5e38\u300d\uff0c\u4f46\u7f3a\u5931\u8303\u56f4\u7684\u5927\u5c0f\u4f1a\u5f71\u54cd\u773c\u775b\u4ee5\u5916\u90e8\u4f4d\u53d7\u5230\u7684\u5f71\u54cd\u7a0b\u5ea6\uff0c\u8fd9\u662f\u7406\u89e3\u8be5\u75c5\u7684\u5173\u952e\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E4%B8%BB%E8%A6%81%E7%97%87%E7%8A%B6%EF%BC%88%E5%8F%91%E8%82%B2%E3%80%81%E6%99%BA%E5%8A%9B%E9%9A%9C%E7%A2%8D%E3%80%81%E9%9D%A2%E9%83%A8%E7%89%B9%E5%BE%81%EF%BC%89\"><\/span><strong>2. \u4e3b\u8981\u75c7\u72b6\uff08\u53d1\u80b2\u3001\u667a\u529b\u969c\u788d\u3001\u9762\u90e8\u7279\u5f81\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u53d1\u80b2\u8fdf\u7f13\u548c\u667a\u529b\u969c\u788d\u7684\u7a0b\u5ea6\u56e0\u7f3a\u5931\u8303\u56f4\u4e0d\u540c\u800c\u6709\u5f88\u5927\u5dee\u5f02\uff0c\u90e8\u5206\u60a3\u8005\u53ef\u4f34\u6709\u7279\u5f81\u6027\u7684\u9762\u90e8\u8868\u73b0\u3002<\/strong>\u524d\u4e00\u7ae0\u63d0\u5230\u7684\u8bba\u6587\uff08\u5bf9\u8c61\u4e3a7\u540d\u60a3\u8005\uff09\u4e2d\uff0c\u9762\u90e8\u7279\u5f81\u51fa\u73b0\u7684\u9891\u7387\u5982\u4e0b\u3002<\/p>\n\n\n\n<figure class=\"wp-table-block\"><table><thead><tr><th>\u9762\u90e8\u7279\u5f81<\/th><th>\u62a5\u544a\u7684\u51fa\u73b0\u9891\u7387<\/th><\/tr><\/thead><tbody><tr><td>\u524d\u989d\u5bbd\u9614<\/td><td>7\u4eba\u4e2d6\u4eba\uff08\u7ea686%\uff09<\/td><\/tr><tr><td>\u4eba\u4e2d\uff08\u9f3b\u4e0b\u6c9f\uff09\u660e\u663e<\/td><td>7\u4eba\u4e2d5\u4eba\uff08\u7ea671%\uff09<\/td><\/tr><tr><td>\u524d\u989d\u7a81\u51fa\u3001\u7709\u6bdb\u6d53\u5bc6\u3001\u773c\u7a9d\u6df1\u9677<\/td><td>7\u4eba\u4e2d3\u4eba\uff08\u7ea643%\uff09<\/td><\/tr><tr><td>\u9f3b\u6839\u51f9\u9677\u6216\u5bbd\u9614<\/td><td>7\u4eba\u4e2d2\u4eba\uff08\u7ea629%\uff09<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<p>\u8be5\u7814\u7a76\u4e2d\uff0c7\u540d\u60a3\u8005\u4e2d\u67093\u4eba\u672a\u88ab\u6307\u51fa\u5b58\u5728\u53d1\u80b2\u8fdf\u7f13\uff0c\u53e6\u67094\u4eba\u51fa\u73b0\u91cd\u5ea6\u7cbe\u795e\u8fd0\u52a8\u53d1\u80b2\u8fdf\u7f13\u3002\u4e5f\u5c31\u662f\u8bf4\uff0c\u5373\u4fbf\u540c\u6837\u662f\u300c\u5305\u542b13q14\u7684\u7f3a\u5931\u300d\uff0c\u5176\u8868\u73b0\u4e5f\u5b58\u5728\u5f88\u5927\u7684\u4e2a\u4f53\u5dee\u5f02\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u53d1\u80b2\u8fdf\u7f13<\/strong>\uff1a\u62ac\u5934\u3001\u884c\u8d70\u7b49\u8fd0\u52a8\u53d1\u80b2\u53ef\u80fd\u8fdb\u5c55\u8f83\u6162\u3002<\/li>\n\n\n\n<li><strong>\u667a\u529b\u969c\u788d<\/strong>\uff1a\u6839\u636e\u7f3a\u5931\u8303\u56f4\u7684\u4e0d\u540c\uff0c\u53ef\u80fd\u4ece\u65e0\u660e\u663e\u969c\u788d\u5230\u8f7b\u5ea6\u3001\u4e2d\u5ea6\u3001\u91cd\u5ea6\u4e0d\u7b49\u3002<\/li>\n\n\n\n<li><strong>\u89c6\u7f51\u819c\u6bcd\u7ec6\u80de\u7624\u98ce\u9669<\/strong>\uff1a\u5f53\u7f3a\u5931\u8303\u56f4\u5305\u542bRB1\u57fa\u56e0\u65f6\uff0c\u5a74\u5e7c\u513f\u671f\u53d1\u751f\u8fd9\u79cd\u773c\u90e8\u80bf\u7624\u7684\u98ce\u9669\u4f1a\u5148\u5929\u6027\u5347\u9ad8\uff08\u8be6\u89c1\u4e0b\u4e00\u7ae0\uff09\u3002<\/li>\n\n\n\n<li><strong>\u5185\u810f\u5f02\u5e38<\/strong>\uff1a\u90e8\u5206\u75c5\u4f8b\u62a5\u544a\u4e86\u5fc3\u810f\u3001\u80be\u810f\u7b49\u5668\u5b98\u7684\u5f02\u5e38\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u5173\u4e8e\u667a\u529b\u969c\u788d\u548c\u53d1\u80b2\u7279\u5f81\uff0c\u53ef\u53c2\u8003\u6211\u4eec<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-intellectual-disability-traits-development\/\">\u5173\u4e8eNIPT\u4e0e\u667a\u529b\u969c\u788d\u7684\u6587\u7ae0<\/a>\uff0c\u4e86\u89e3\u67d3\u8272\u4f53\u75be\u75c5\u6574\u4f53\u7684\u503e\u5411\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E8%A7%86%E7%BD%91%E8%86%9C%E6%AF%8D%E7%BB%86%E8%83%9E%E7%98%A4%EF%BC%88%E7%9C%BC%E9%83%A8%E8%82%BF%E7%98%A4%EF%BC%89%E7%9A%84%E9%A3%8E%E9%99%A9%E4%B8%8E%E6%97%A9%E6%9C%9F%E5%8F%91%E7%8E%B0%E7%9A%84%E5%BE%81%E5%85%86\"><\/span><strong>3. \u89c6\u7f51\u819c\u6bcd\u7ec6\u80de\u7624\uff08\u773c\u90e8\u80bf\u7624\uff09\u7684\u98ce\u9669\u4e0e\u65e9\u671f\u53d1\u73b0\u7684\u5f81\u5146<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u5f53\u7f3a\u5931\u8303\u56f4\u5305\u542bRB1\u57fa\u56e0\u65f6\uff0c\u5a74\u5e7c\u513f\u671f\u53d1\u751f\u89c6\u7f51\u819c\u6bcd\u7ec6\u80de\u7624\u7684\u98ce\u9669\u4f1a\u5148\u5929\u6027\u5347\u9ad8\uff0c\u56e0\u6b64\u901a\u8fc7\u5b9a\u671f\u773c\u79d1\u68c0\u67e5\u5b9e\u73b0\u65e9\u671f\u53d1\u73b0\u81f3\u5173\u91cd\u8981\u3002<\/strong><\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%A3%8E%E9%99%A9%E5%8D%87%E9%AB%98%E7%9A%84%E5%8E%9F%E5%9B%A0%EF%BC%88%E4%BA%8C%E6%AC%A1%E6%89%93%E5%87%BB%E5%81%87%E8%AF%B4%EF%BC%89\"><\/span><strong>\u98ce\u9669\u5347\u9ad8\u7684\u539f\u56e0\uff08\u4e8c\u6b21\u6253\u51fb\u5047\u8bf4\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>RB1\u57fa\u56e0\u539f\u672c\u662f\u9632\u6b62\u7ec6\u80de\u764c\u53d8\u7684\u300c\u6291\u764c\u57fa\u56e0\u300d\u3002\u60a3\u670913q14\u7f3a\u5931\u7efc\u5408\u5f81\u7684\u5b69\u5b50\uff0c\u5148\u5929\u5c31\u5df2\u7ecf\u7f3a\u5931\u4e86\u4e00\u4efdRB1\u57fa\u56e0\u62f7\u8d1d\uff08\u7b2c\u4e00\u6b21\u6253\u51fb\uff09\u3002\u5982\u679c\u89c6\u7f51\u819c\u7ec6\u80de\u4e2d\u53e6\u4e00\u4efdRB1\u57fa\u56e0\u53c8\u5076\u7136\u53d1\u751f\u540e\u5929\u6027\u53d8\u5316\uff08\u7b2c\u4e8c\u6b21\u6253\u51fb\uff09\uff0c\u8be5\u7ec6\u80de\u5c31\u53ef\u80fd\u764c\u53d8\uff0c\u4ece\u800c\u5f15\u53d1\u89c6\u7f51\u819c\u6bcd\u7ec6\u80de\u7624\u3002\u8fd9\u4e00\u673a\u5236\u88ab\u79f0\u4e3a\u300c\u4e8c\u6b21\u6253\u51fb\u5047\u8bf4\u300d\uff0cGeneReviews Japan\u7684<a href=\"https:\/\/grj.umin.jp\/grj\/retinoblastoma.htm\" target=\"_blank\" rel=\"noopener\">\u89c6\u7f51\u819c\u6bcd\u7ec6\u80de\u7624\u89e3\u8bf4<\/a>\uff08\u65e5\u8bed\u8d44\u6599\uff09\u4e2d\u4e5f\u6709\u4ecb\u7ecd\u3002<\/p>\n\n\n\n<p>\u7531\u4e8e\u5148\u5929\u5df2\u5177\u5907\u7b2c\u4e00\u6b21\u6253\u51fb\uff0c\u539f\u672c\u901a\u5e38\u53ea\u53d1\u751f\u5728\u5355\u773c\u7684\u5076\u53d1\u6027\u53d8\u5316\uff0c\u66f4\u5bb9\u6613\u5728\u53cc\u773c\u6216\u591a\u4e2a\u90e8\u4f4d\u91cd\u590d\u53d1\u751f\u3002\u8fd9\u6b63\u662f\u9057\u4f20\u6027\u89c6\u7f51\u819c\u6bcd\u7ec6\u80de\u7624\u4e2d\u53cc\u4fa7\uff08\u53cc\u773c\uff09\u53d1\u75c5\u75c5\u4f8b\u8f83\u591a\u7684\u539f\u56e0\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%97%A9%E6%9C%9F%E5%8F%91%E7%8E%B0%E7%9A%84%E5%BE%81%E5%85%86\"><\/span><strong>\u65e9\u671f\u53d1\u73b0\u7684\u5f81\u5146<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6839\u636e\u65e5\u672c\u56fd\u5bb6\u516c\u5171\u6570\u636e\u5e93<a href=\"https:\/\/www.shouman.jp\/disease\/details\/01_05_029\/\" target=\"_blank\" rel=\"noopener\">\u513f\u7ae5\u6162\u6027\u7279\u5b9a\u75be\u75c5\u4fe1\u606f\u4e2d\u5fc3<\/a>\uff08\u65e5\u8bed\u8d44\u6599\uff09\u7684\u6570\u636e\uff0c\u89c6\u7f51\u819c\u6bcd\u7ec6\u80de\u762495%\u7684\u75c5\u4f8b\u57285\u5c81\u524d\u53d1\u75c5\uff0c\u5e73\u5747\u53d1\u75c5\u5e74\u9f84\u4e3a18\u4e2a\u6708\u3002\u6700\u5e38\u89c1\u7684\u521d\u53d1\u75c7\u72b6\u662f\u300c\u767d\u77b3\u75c7\uff08\u77b3\u5b54\u5448\u767d\u8272\u53cd\u5149\u7684\u72b6\u6001\uff0c\u6709\u65f6\u901a\u8fc7\u7167\u7247\u95ea\u5149\u706f\u88ab\u53d1\u73b0\uff09\u300d\uff0c\u536060%\uff0c\u5176\u6b21\u662f\u300c\u659c\u89c6\u300d\u536013%\uff0c\u53e6\u6709\u7ed3\u819c\u5145\u8840\u53605%\u3001\u89c6\u529b\u4e0b\u964d\u53602%\u3002<\/p>\n\n\n\n<p>\u5bf9\u4e8e\u5df2\u786e\u8bca13q14\u7f3a\u5931\u7efc\u5408\u5f81\u7684\u5b69\u5b50\uff0c\u5728\u75c7\u72b6\u51fa\u73b0\u4e4b\u524d\u5b9a\u671f\u8fdb\u884c\u773c\u5e95\u68c0\u67e5\uff08\u6563\u77b3\u540e\u68c0\u67e5\u773c\u5e95\uff09\uff0c\u6709\u52a9\u4e8e\u5728\u767d\u77b3\u75c7\u7b49\u75c7\u72b6\u51fa\u73b0\u4e4b\u524d\u5b9e\u73b0\u65e9\u671f\u53d1\u73b0\u3002\u8bf7\u4e0e\u60a8\u7684\u513f\u79d1\u773c\u79d1\u533b\u751f\u5546\u91cf\uff0c\u786e\u5b9a\u68c0\u67e5\u7684\u95f4\u9694\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%B2%BB%E7%96%97%E5%90%8E%E7%9A%84%E7%BB%88%E7%94%9F%E9%9A%8F%E8%AE%BF\"><\/span><strong>\u6cbb\u7597\u540e\u7684\u7ec8\u751f\u968f\u8bbf<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5bf9\u4e8e\u9057\u4f20\u6027\uff08\u751f\u6b96\u7ec6\u80de\u7cfb\u5b58\u5728RB1\u53d8\u5316\uff09\u89c6\u7f51\u819c\u6bcd\u7ec6\u80de\u7624\u60a3\u8005\uff0c\u6210\u5e74\u540e\u53d1\u751f\u773c\u775b\u4ee5\u5916\u90e8\u4f4d\u7ee7\u53d1\u80bf\u7624\uff08\u9aa8\u8089\u7624\u3001\u8f6f\u7ec4\u7ec7\u8089\u7624\u3001\u6076\u6027\u9ed1\u8272\u7d20\u7624\u7b49\uff09\u7684\u98ce\u9669\u4ecd\u4f1a\u6301\u7eed\u5904\u4e8e\u8f83\u9ad8\u6c34\u5e73\u3002\u5c24\u5176\u662f\u63a5\u53d7\u8fc7\u4f53\u5916\u653e\u5c04\u6cbb\u7597\u7684\u60a3\u8005\uff0c\u8be5\u98ce\u9669\u4f1a\u8fdb\u4e00\u6b65\u5347\u9ad8\uff0c\u56e0\u6b64\u5efa\u8bae\u7ec8\u751f\u5b9a\u671f\u968f\u8bbf\u3002<\/p>\n\n\n\n<p>\u4e0d\u8981\u8ba4\u4e3a\u300c\u6cbb\u7597\u7ed3\u675f\u5c31\u4e07\u4e8b\u5927\u5409\u300d\uff0c\u6210\u5e74\u540e\u4e5f\u5e94\u4fdd\u6301\u5b9a\u671f\u590d\u8bca\u7684\u610f\u8bc6\uff0c\u8fd9\u5bf9\u7ef4\u62a4\u957f\u671f\u5065\u5eb7\u5341\u5206\u91cd\u8981\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E4%B8%8E%E5%90%8D%E7%A7%B0%E7%9B%B8%E4%BC%BC%E7%96%BE%E7%97%85%E7%9A%84%E5%8C%BA%E5%88%AB%EF%BC%8813q%E6%9C%AB%E7%AB%AF%E7%BC%BA%E5%A4%B1%E7%BB%BC%E5%90%88%E5%BE%81%E3%83%BB13%E4%B8%89%E4%BD%93%E7%BB%BC%E5%90%88%E5%BE%81%EF%BC%89\"><\/span><strong>4. \u4e0e\u540d\u79f0\u76f8\u4f3c\u75be\u75c5\u7684\u533a\u522b\uff0813q\u672b\u7aef\u7f3a\u5931\u7efc\u5408\u5f81\u30fb13\u4e09\u4f53\u7efc\u5408\u5f81\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u5373\u4f7f\u540c\u6837\u5e26\u6709\u300c13\u300d\u548c\u300c\u7f3a\u5931\u300d\u8fd9\u4e24\u4e2a\u5b57\u773c\uff0c\u53ea\u8981\u53d8\u5316\u7684\u90e8\u4f4d\u548c\u65b9\u5f0f\u4e0d\u540c\uff0c\u5c31\u662f\u5b8c\u5168\u4e0d\u540c\u7684\u75be\u75c5\u3002<\/strong>\u4e0b\u9762\u6574\u7406\u4e0e\u4e24\u79cd\u5bb9\u6613\u6df7\u6dc6\u7684\u75be\u75c5\u4e4b\u95f4\u7684\u533a\u522b\u3002<\/p>\n\n\n\n<figure class=\"wp-table-block\"><table><thead><tr><th>\u6bd4\u8f83\u9879\u76ee<\/th><th>13q14\u7f3a\u5931\u7efc\u5408\u5f81\uff08\u672c\u6587\uff09<\/th><th>13q\u672b\u7aef\u7f3a\u5931\u7efc\u5408\u5f81<\/th><th>13\u4e09\u4f53\u7efc\u5408\u5f81\uff08\u5e15\u9676\u7efc\u5408\u5f81\uff09<\/th><\/tr><\/thead><tbody><tr><td>\u53d8\u5316\u7c7b\u578b<\/td><td>13\u53f7\u67d3\u8272\u4f53\u90e8\u5206\u7f3a\u5931\uff08\u7ed3\u6784\u5f02\u5e38\uff09<\/td><td>13\u53f7\u67d3\u8272\u4f53\u672b\u7aef\u7f3a\u5931\uff08\u7ed3\u6784\u5f02\u5e38\uff09<\/td><td>13\u53f7\u67d3\u8272\u4f53\u53d8\u4e3a3\u6761\uff08\u6570\u76ee\u5f02\u5e38\uff09<\/td><\/tr><tr><td>\u4e3b\u8981\u7f3a\u5931\u30fb\u53d8\u5316\u4f4d\u7f6e<\/td><td>\u957f\u81c214\u53f7\u5e26\uff08q14\uff09\u9644\u8fd1\uff0c\u591a\u5305\u542bRB1\u57fa\u56e0<\/td><td>\u957f\u81c231\u53f7\u5e26\u4ee5\u8fdc\uff08\u672b\u7aef\uff09\uff0c\u5305\u542bZIC2\u3001EFNB2\u7b49\u57fa\u56e0<\/td><td>\u67d3\u8272\u4f53\u6570\u76ee\u5f02\u5e38\uff0c\u5e76\u975e\u7279\u5b9a\u533a\u57df\u7f3a\u5931<\/td><\/tr><tr><td>\u7279\u5f81\u6027\u98ce\u9669<\/td><td>\u89c6\u7f51\u819c\u6bcd\u7ec6\u80de\u7624\uff08\u773c\u90e8\u80bf\u7624\uff09<\/td><td>\u5168\u524d\u8111\u7578\u5f62\u3001\u56db\u80a2\u5f62\u6210\u5f02\u5e38<\/td><td>\u4e25\u91cd\u5fc3\u810f\u30fb\u8111\u90e8\u5e76\u53d1\u75c7\u3001\u591a\u53d1\u7578\u5f62<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<p>\u300c13q\u672b\u7aef\u7f3a\u5931\u7efc\u5408\u5f81\u300d\u662f\u672b\u7aef\u4fa7\uff0813q31\u4ee5\u8fdc\uff09\u7f3a\u5931\u6240\u81f4\uff0c\u5305\u542b\u4e0e\u5927\u8111\u5de6\u53f3\u5206\u5316\u76f8\u5173\u7684ZIC2\u7b49\u57fa\u56e0\uff0c\u4ee5\u5168\u524d\u8111\u7578\u5f62\u548c\u56db\u80a2\u5f62\u6210\u5f02\u5e38\u4e3a\u4e3b\u8981\u8868\u73b0\uff0c\u662f\u4e0e\u672c\u6587\u6240\u8ff0\u75be\u75c5\u5b8c\u5168\u4e0d\u540c\u7684\u75be\u75c5\u3002\u8be6\u60c5\u53ef\u53c2\u8003<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/distal-chromosome-13q-deletion-syndrome-guide\/\">13q\u672b\u7aef\u7f3a\u5931\u7efc\u5408\u5f81\u7684\u89e3\u8bf4\u6587\u7ae0<\/a>\u3002\u9700\u8981\u6ce8\u610f\u7684\u662f\uff0c\u5f53\u7f3a\u5931\u8303\u56f4\u975e\u5e38\u5927\u3001\u5ef6\u4f38\u81f313q14\u65f6\uff0c\u4e24\u79cd\u75be\u75c5\u7684\u75c7\u72b6\u4e5f\u53ef\u80fd\u540c\u65f6\u51fa\u73b0\u3002<\/p>\n\n\n\n<p>\u53e6\u4e00\u65b9\u9762\uff0c\u300c13\u4e09\u4f53\u7efc\u5408\u5f81\uff08\u5e15\u9676\u7efc\u5408\u5f81\uff09\u300d\u662f13\u53f7\u67d3\u8272\u4f53\u75312\u6761\u53d8\u4e3a3\u6761\u7684\u300c\u6570\u76ee\u300d\u5f02\u5e38\uff0c\u4e0e13q14\u7f3a\u5931\u7efc\u5408\u5f81\u5728\u53d1\u751f\u673a\u5236\u4e0a\u5b8c\u5168\u4e0d\u540c\u3002\u8bf7\u6ce8\u610f\u4e0d\u8981\u4ec5\u56e0\u8bca\u65ad\u4e66\u4e0a\u51fa\u73b0\u300c13\u300d\u8fd9\u4e2a\u6570\u5b57\uff0c\u5c31\u5c06\u5176\u4ed6\u75be\u75c5\u7684\u4fe1\u606f\u5957\u7528\u5230\u8be5\u75c5\u4e0a\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"5_%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>5. \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>\u591a\u6570\u75c5\u4f8b\u7531\u5076\u53d1\u6027\u7a81\u53d8\uff08\u65b0\u53d1\u7a81\u53d8\uff09\u5f15\u8d77\uff0c\u4f46\u6781\u5c11\u6570\u60c5\u51b5\u4e0b\u7236\u6bcd\u4e00\u65b9\u643a\u5e26\u5e73\u8861\u6613\u4f4d\uff0c\u4f1a\u4f7f\u5144\u5f1f\u59d0\u59b9\u7684\u590d\u53d1\u98ce\u9669\u5347\u9ad8\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\u7cbe\u5b50\u6216\u5375\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<strong>\u8fd9\u5e76\u975e\u7531\u6000\u5b55\u671f\u95f4\u7684\u996e\u98df\u6216\u751f\u6d3b\u4e60\u60ef\u5f15\u8d77\u3002<\/strong>\u60a8\u65e0\u9700\u81ea\u8d23\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%88%B6%E6%AF%8D%E5%B9%B3%E8%A1%A1%E6%98%93%E4%BD%8D%E4%B8%8E%E5%A4%8D%E5%8F%91%E9%A3%8E%E9%99%A9\"><\/span><strong>\u7236\u6bcd\u5e73\u8861\u6613\u4f4d\u4e0e\u590d\u53d1\u98ce\u9669<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6839\u636e\u4e00\u7bc7\u5173\u4e8e<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC7379829\/\" target=\"_blank\" rel=\"noopener\">\u6e90\u4e8e\u7236\u65b9\u5e73\u8861\u6613\u4f4d\u768413q\u7f3a\u5931\u7efc\u5408\u5f81\u75c5\u4f8b\u62a5\u544a<\/a>\uff0c\u591a\u6570\u75c5\u4f8b\u5c5e\u4e8e\u5076\u53d1\u6027\u65b0\u53d1\u7a81\u53d8\uff0c\u4f46\u6781\u5c11\u6570\u60c5\u51b5\u4e0b\uff0c\u7236\u6bcd\u4e00\u65b9\u53ef\u80fd\u643a\u5e26\u300c\u5e73\u8861\u6613\u4f4d\u300d\u2014\u2014\u4e00\u79cd\u672c\u4eba\u4e0d\u51fa\u73b0\u75c7\u72b6\u7684\u67d3\u8272\u4f53\u91cd\u7ec4\u3002\u6b64\u65f6\uff0c\u5144\u5f1f\u59d0\u59b9\u7684\u590d\u53d1\u98ce\u9669\u6700\u9ad8\u53ef\u8fbe50%\uff0c\u62a5\u544a\u8fd8\u6307\u51fa\uff0c\u90e8\u5206\u8868\u9762\u4e0a\u770b\u4f3c\u65b0\u53d1\u7a81\u53d8\u7684\u75c5\u4f8b\uff08\u8be5\u7814\u7a76\u62a5\u544a\u4e2d\u7ea62%\uff09\u5b9e\u9645\u4e0a\u53ef\u80fd\u6e90\u4e8e\u6613\u4f4d\u3002<\/p>\n\n\n\n<p>\u56e0\u6b64\uff0c\u8be5\u8bba\u6587\u5efa\u8bae\u5bf9\u6240\u6709\u786e\u8bca13q\u7f3a\u5931\u7efc\u5408\u5f81\u7684\u5bb6\u5ead\uff0c\u5c06\u7236\u6bcd\u53cc\u65b9\u7684\u67d3\u8272\u4f53\u68c0\u67e5\uff08\u6838\u578b\u5206\u6790\uff09\u548cFISH\u68c0\u6d4b\u4f5c\u4e3a\u5e38\u89c4\u68c0\u67e5\u9879\u76ee\u3002\u4ec5\u4ec5\u4e86\u89e3\u7236\u6bcd\u7684\u68c0\u67e5\u7ed3\u679c\uff0c\u5c31\u6709\u52a9\u4e8e\u4e3a\u4e0b\u4e00\u6b21\u598a\u5a20\u5236\u5b9a\u8ba1\u5212\u3002\u5982\u679c\u62c5\u5fc3\u5bf9\u4e0b\u4e00\u80ce\u7684\u5f71\u54cd\uff0c\u5efa\u8bae\u54a8\u8be2\u4e34\u5e8a\u9057\u4f20\u4e13\u79d1\u533b\u751f\u6216\u8ba4\u8bc1\u9057\u4f20\u54a8\u8be2\u5e08\uff0c\u63a5\u53d7\u9057\u4f20\u54a8\u8be2\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"6_%E4%B8%8E%E4%BA%A7%E5%89%8D%E8%AF%8A%E6%96%AD%E3%83%BBNIPT%E7%9A%84%E5%85%B3%E7%B3%BB\"><\/span><strong>6. \u4e0e\u4ea7\u524d\u8bca\u65ad\u30fbNIPT\u7684\u5173\u7cfb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>13q14\u7f3a\u5931\u7efc\u5408\u5f81\u901a\u5e38\u4e0d\u5c5e\u4e8e\u57fa\u7840NIPT\u7684\u68c0\u6d4b\u8303\u56f4\uff0c\u53ea\u6709\u5728\u8986\u76d6\u5fae\u7f3a\u5931\u7684\u6269\u5c55\u68c0\u67e5\u4e2d\uff0c\u624d\u6709\u53ef\u80fd\u4f5c\u4e3a\u5019\u9009\u533a\u57df\u51fa\u73b0\uff0c\u4e14\u6982\u7387\u6781\u4f4e\u3002<\/strong><\/p>\n\n\n\n<p>\u4e00\u822c\u7684\u57fa\u7840NIPT\u4e3b\u8981\u68c0\u6d4b21\u300118\u300113\u4e09\u4f53\u8fd9\u7c7b\u67d3\u8272\u4f53\u300c\u6570\u76ee\u300d\u53d8\u5316\u3002\u8fd9\u91cc\u7684\u300c13\u300d\u6307\u7684\u662f13\u53f7\u67d3\u8272\u4f53\u53d8\u4e3a3\u6761\u768413\u4e09\u4f53\uff0c\u4e0e\u672c\u6587\u6240\u8ff013q14\u7684\u300c\u90e8\u5206\u7f3a\u5931\u300d\u5728\u53d8\u5316\u7c7b\u578b\u4e0a\u5b8c\u5168\u4e0d\u540c\u3002\u5373\u4f7f\u57fa\u7840NIPT\u663e\u793a13\u4e09\u4f53\u4e3a\u9634\u6027\uff0c\u4e5f\u4e0d\u80fd\u6392\u966413q14\u7f3a\u5931\u7efc\u5408\u5f81\u7684\u53ef\u80fd\u6027\u3002<\/p>\n\n\n\n<p>\u6211\u4eecHiro Clinic NIPT\u4e5f\u66fe\u6536\u5230\u300c\u5728\u8986\u76d6\u5fae\u7f3a\u5931\u7684\u68c0\u67e5\u4e2d\uff0c\u51fa\u73b0\u4e86\u4ece\u672a\u542c\u8bf4\u8fc7\u7684\u5019\u9009\u533a\u57df\uff0c\u8be5\u600e\u4e48\u529e\u300d\u8fd9\u6837\u7684\u54a8\u8be2\u3002\u9996\u5148\u9700\u8981\u4e86\u89e3\u7684\u662f\uff0c<strong>NIPT\u7ec8\u7a76\u53ea\u662f\u4e00\u79cd\u975e\u786e\u5b9a\u6027\u7684\u7b5b\u67e5\u68c0\u6d4b<\/strong>\u3002<\/p>\n\n\n\n<p>\u65e5\u672c\u4ea7\u79d1\u5987\u4eba\u79d1\u5b66\u4f1a\u5173\u4e8e<a href=\"https:\/\/www.jsog.or.jp\/news\/pdf\/NIPT_kaiteishishin.pdf\" target=\"_blank\" rel=\"noopener\">NIPT\u7684\u6307\u5357<\/a>\uff08\u65e5\u8bed\u8d44\u6599\uff09\u4e5f\u6307\u51fa\uff0cNIPT\u7684\u7ed3\u679c\u4ec5\u505c\u7559\u5728\u7b5b\u67e5\uff08\u975e\u786e\u5b9a\u6027\uff09\u68c0\u6d4b\u7684\u8303\u7574\uff0c\u5e76\u975e\u786e\u5b9a\u8bca\u65ad\u3002\u786e\u5b9a\u8bca\u65ad\u9700\u8981\u901a\u8fc7\u7f8a\u6c34\u7a7f\u523a\u8fdb\u884c\u67d3\u8272\u4f53\u5fae\u9635\u5217\u68c0\u6d4b\uff08CMA\uff09\u3002\u6b64\u5916\uff0c\u5fae\u7f3a\u5931\u68c0\u67e5\u8986\u76d6\u7684\u8303\u56f4\u8d8a\u5e7f\uff0c\u9633\u6027\u7ed3\u679c\u4e2d\u5b9e\u9645\u60a3\u75c5\u7684\u6bd4\u4f8b\uff08\u9633\u6027\u9884\u6d4b\u503c\uff09\u5f80\u5f80\u8d8a\u4f4e\uff0c\u8fd9\u4e00\u70b9\u4e5f\u662f\u5df2\u77e5\u7684\u3002<\/p>\n\n\n\n<p>\u5982\u679cNIPT\u663e\u793a\u5305\u542b13q14\u533a\u57df\u7684\u5fae\u7f3a\u5931\u9633\u6027\u7ed3\u679c\uff0c\u540e\u7eed\u6d41\u7a0b\u5927\u81f4\u5982\u4e0b\uff1a\u9996\u5148\u901a\u8fc7\u9057\u4f20\u54a8\u8be2\u786e\u8ba4\u7ed3\u679c\u7684\u542b\u4e49\uff0c\u7136\u540e\u592b\u59bb\u53cc\u65b9\u5171\u540c\u5546\u8bae\u662f\u5426\u63a5\u53d7\u7f8a\u6c34\u7a7f\u523a\u7684\u67d3\u8272\u4f53\u5fae\u9635\u5217\u68c0\u6d4b\uff08CMA\uff09\u4ee5\u83b7\u5f97\u786e\u5b9a\u8bca\u65ad\u3002\u82e5\u6000\u7591\u6d89\u53caRB1\u57fa\u56e0\uff0c\u4e5f\u5efa\u8bae\u63d0\u524d\u786e\u8ba4\u51fa\u751f\u540e\u773c\u79d1\u968f\u8bbf\u7684\u5b89\u6392\u3002\u8bf7\u4e0d\u8981\u6025\u4e8e\u4e0b\u7ed3\u8bba\uff0c\u52a1\u5fc5\u4e0e\u4e13\u79d1\u533b\u751f\u4e00\u8d77\u9010\u4e00\u68b3\u7406\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"7_%E7%A1%AE%E8%AF%8A%E7%9A%84%E6%B5%81%E7%A8%8B\"><\/span><strong>7. \u786e\u8bca\u7684\u6d41\u7a0b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u67d3\u8272\u4f53\u5fae\u9635\u5217\u68c0\u6d4b\uff08CMA\uff09\u5728\u786e\u5b9a\u8bca\u65ad\u4e2d\u53d1\u6325\u6838\u5fc3\u4f5c\u7528\uff0c\u51fa\u751f\u540e\u8fd8\u9700\u7ed3\u5408\u773c\u79d1\u8bc4\u4f30\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%B5%8B%EF%BC%88CMA%EF%BC%89\"><\/span><strong>\u67d3\u8272\u4f53\u5fae\u9635\u5217\u68c0\u6d4b\uff08CMA\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8fd9\u662f\u4e00\u79cd\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\u5fae\u5c0f\u7f3a\u5931\u7684\u68c0\u6d4b\u65b9\u6cd5\u3002\u901a\u8fc7\u8be5\u68c0\u6d4b\uff0c\u53ef\u4ee5\u8be6\u7ec6\u4e86\u89e3\u7f3a\u5931\u7684\u8303\u56f4\u4ee5\u53ca\u662f\u5426\u5305\u542bRB1\u57fa\u56e0\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"FISH%E6%B3%95%E4%B8%8E%E7%88%B6%E6%AF%8D%E6%A3%80%E6%B5%8B\"><\/span><strong>FISH\u6cd5\u4e0e\u7236\u6bcd\u68c0\u6d4b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6709\u65f6\u8fd8\u4f1a\u4f7f\u7528\u53ea\u4f7f\u7279\u5b9a\u533a\u57df\u53d1\u5149\u663e\u793a\u7684FISH\u6cd5\u4f5c\u4e3a\u8bca\u65ad\u7684\u4f50\u8bc1\u3002\u540c\u65f6\u68c0\u6d4b\u7236\u6bcd\u7684\u8840\u6db2\uff0c\u53ef\u4ee5\u5224\u65ad\u8be5\u53d8\u5316\u5c5e\u4e8e\u65b0\u53d1\u7a81\u53d8\uff0c\u8fd8\u662f\u6e90\u4e8e\u5e73\u8861\u6613\u4f4d\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%EF%BC%88%E5%90%AB%E7%9C%BC%E7%A7%91%E8%AF%84%E4%BC%B0%EF%BC%89\"><\/span><strong>\u51fa\u751f\u540e\u7684\u8bc4\u4f30\uff08\u542b\u773c\u79d1\u8bc4\u4f30\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u786e\u8bca\u540e\uff0c\u4f1a\u7ed3\u5408\u53d1\u80b2\u68c0\u67e5\u3001\u5fc3\u810f\u30fb\u80be\u810f\u7b49\u5185\u810f\u8bc4\u4f30\uff0c\u4ee5\u53ca\u5728\u6000\u7591\u6d89\u53caRB1\u57fa\u56e0\u65f6\u8fdb\u884c\u7684\u5c0f\u513f\u773c\u79d1\u773c\u5e95\u68c0\u67e5\uff0c\u7efc\u5408\u628a\u63e1\u5b69\u5b50\u7684\u6574\u4f53\u72b6\u6001\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%B2%BB%E7%96%97\"><\/span><strong>\u6cbb\u7597<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u76ee\u524d\u5c1a\u65e0\u6839\u672c\u6027\u6cbb\u7597\u65b9\u6cd5\u80fd\u591f\u6062\u590d\u7f3a\u5931\u7684\u67d3\u8272\u4f53\u7247\u6bb5\uff0c\u4f46\u901a\u8fc7\u7ed3\u5408\u53d1\u80b2\u652f\u6301\u4e0e\u89c6\u7f51\u819c\u6bcd\u7ec6\u80de\u7624\u7684\u5e94\u5bf9\u63aa\u65bd\uff0c\u53ef\u4ee5\u652f\u6301\u5b69\u5b50\u5065\u5eb7\u6210\u957f\u3002<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u53d1\u80b2\u652f\u6301\u4e0e\u5eb7\u590d\u8bad\u7ec3<\/strong>\uff1a\u901a\u8fc7\u7269\u7406\u6cbb\u7597\uff08PT\uff09\u3001\u4f5c\u4e1a\u6cbb\u7597\uff08OT\uff09\u3001\u8bed\u8a00\u8bad\u7ec3\uff08ST\uff09\u652f\u6301\u8fd0\u52a8\u3001\u8bed\u8a00\u53ca\u751f\u6d3b\u81ea\u7406\u80fd\u529b\u7684\u53d1\u80b2\u3002<\/li>\n\n\n\n<li><strong>\u89c6\u7f51\u819c\u6bcd\u7ec6\u80de\u7624\u7684\u6cbb\u7597<\/strong>\uff1a\u5728\u4fdd\u7559\u773c\u7403\u7684\u60c5\u51b5\u4e0b\uff0c\u53ef\u9009\u62e9\u5168\u8eab\u5316\u7597\u3001\u6fc0\u5149\u6cbb\u7597\u3001\u6e29\u70ed\u7597\u6cd5\u3001\u773c\u52a8\u8109\u5c40\u90e8\u5316\u7597\uff08\u5982\u7f8e\u6cd5\u4ed1\u7b49\uff09\u3001\u73bb\u7483\u4f53\u8154\u6ce8\u5c04\u7b49\u65b9\u6cd5\uff1b\u75c5\u60c5\u8fdb\u5c55\u8f83\u91cd\u65f6\uff0c\u4e5f\u53ef\u80fd\u9009\u62e9\u6458\u9664\u773c\u7403\u540e\u8fdb\u884c\u672f\u540e\u5316\u7597\u3002<\/li>\n\n\n\n<li><strong>\u5185\u810f\u7ba1\u7406<\/strong>\uff1a\u5982\u5b58\u5728\u5fc3\u810f\u6216\u80be\u810f\u5f02\u5e38\uff0c\u9700\u8981\u4e13\u79d1\u533b\u751f\u8fdb\u884c\u7ba1\u7406\u3002<\/li>\n\n\n\n<li><strong>\u7ec8\u751f\u968f\u8bbf<\/strong>\uff1a\u7531\u4e8e\u9057\u4f20\u6027\u89c6\u7f51\u819c\u6bcd\u7ec6\u80de\u7624\u60a3\u8005\u6210\u5e74\u540e\u7ee7\u53d1\u80bf\u7624\u7684\u98ce\u9669\u4ecd\u4f1a\u6301\u7eed\uff0c\u6210\u5e74\u540e\u4e5f\u9700\u575a\u6301\u5b9a\u671f\u590d\u8bca\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\/11\/24156031_s.jpg\" alt=\"\u62b1\u7740\u5a74\u513f\u7684\u4e00\u5bb6\u4eba\" class=\"wp-image-87708\"\/><\/figure><\/div>\n\n\n<p>\u7531\u4e8e\u6bcf\u4e2a\u5b69\u5b50\u7684\u75c7\u72b6\u7ec4\u5408\u4e0e\u4e25\u91cd\u7a0b\u5ea6\u5404\u4e0d\u76f8\u540c\uff0c\u8be5\u75c5\u5e76\u4e0d\u5b58\u5728\u300c\u4e00\u5b9a\u4f1a\u5982\u6b64\u300d\u7684\u56fa\u5b9a\u75c5\u7a0b\u3002\u901a\u5e38\u7531\u4e3b\u6cbb\u513f\u79d1\u533b\u751f\u3001\u5c0f\u513f\u773c\u79d1\u533b\u751f\u548c\u5eb7\u590d\u8bad\u7ec3\u4eba\u5458\u5171\u540c\u534f\u5546\uff0c\u4e3a\u5b69\u5b50\u9010\u6b65\u5236\u5b9a\u4e2a\u6027\u5316\u7684\u652f\u6301\u65b9\u6848\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%A2%84%E5%90%8E\"><\/span><strong>\u9884\u540e<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u9884\u540e\u5dee\u5f02\u8f83\u5927\uff0c\u4ece\u53d1\u80b2\u8fdf\u7f13\u4e0d\u660e\u663e\u5230\u9700\u8981\u957f\u671f\u652f\u6301\u7684\u60c5\u51b5\u90fd\u6709\uff0c\u65e9\u671f\u5eb7\u590d\u8bad\u7ec3\u4e0e\u89c6\u7f51\u819c\u6bcd\u7ec6\u80de\u7624\u7684\u65e9\u671f\u53d1\u73b0\u30fb\u6cbb\u7597\uff0c\u662f\u5f71\u54cd\u751f\u6d3b\u8d28\u91cf\u7684\u5173\u952e\u3002<\/strong><\/p>\n\n\n\n<p>\u901a\u8fc7\u9002\u5f53\u7684\u652f\u6301\u4e0e\u533b\u7597\u7ba1\u7406\uff0c\u901a\u5e38\u53ef\u4ee5\u671f\u5f85\u751f\u6d3b\u8d28\u91cf\u5f97\u5230\u6539\u5584\uff0c\u4f46\u9884\u540e\u56e0\u7f3a\u5931\u8303\u56f4\u3001RB1\u57fa\u56e0\u662f\u5426\u53d7\u7d2f\u4ee5\u53ca\u662f\u5426\u5408\u5e76\u5176\u4ed6\u5e76\u53d1\u75c7\u800c\u5b58\u5728\u4e2a\u4f53\u5dee\u5f02\u3002\u7531\u4e8e\u89c6\u7f51\u819c\u6bcd\u7ec6\u80de\u7624\u8d8a\u65e9\u53d1\u73b0\uff0c\u6cbb\u7597\u7684\u9009\u62e9\u5c31\u8d8a\u591a\uff0c\u56e0\u6b64\u65e9\u671f\u5eb7\u590d\u8bad\u7ec3\u4e0e\u5b9a\u671f\u773c\u79d1\u68c0\u67e5\u4e24\u8005\u90fd\u5341\u5206\u91cd\u8981\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%88%B6%E6%AF%8D%E7%9A%84%E8%B4%9F%E6%8B%85%E4%B8%8E%E5%AE%B6%E5%BA%AD%E6%94%AF%E6%8C%81\"><\/span><strong>\u7236\u6bcd\u7684\u8d1f\u62c5\u4e0e\u5bb6\u5ead\u652f\u6301<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u7531\u4e8e\u5f80\u5f80\u9700\u8981\u957f\u671f\u7684\u5eb7\u590d\u8bad\u7ec3\u548c\u533b\u7597\u7ba1\u7406\uff0c\u5bb6\u5ead\u5e38\u5e38\u9762\u4e34\u7ecf\u6d4e\u548c\u5fc3\u7406\u4e0a\u7684\u8d1f\u62c5\uff0c\u80fd\u591f\u4f9d\u9760\u7684\u4e13\u4e1a\u673a\u6784\u662f\u91cd\u8981\u7684\u652f\u6491\u3002<\/strong><\/p>\n\n\n\n<p>\u5728\u8eab\u8fb9\u53ef\u80fd\u5f88\u96be\u627e\u5230\u60a3\u6709\u540c\u6837\u75be\u75c5\u7684\u5b69\u5b50\u3002\u5373\u4fbf\u5982\u6b64\uff0c\u60a3\u6709\u67d3\u8272\u4f53\u76f8\u5173\u7f55\u89c1\u75c5\u7684\u5bb6\u5ead\u4e4b\u95f4\u7684\u8054\u7cfb\uff0c\u4ee5\u53ca\u9057\u4f20\u54a8\u8be2\u63d0\u4f9b\u7684\u4e13\u4e1a\u652f\u6301\uff0c\u4ecd\u7136\u53ef\u4ee5\u5584\u52a0\u5229\u7528\u3002\u533b\u7597\u7ba1\u7406\u53ef\u4ee5\u4ea4\u7ed9\u533b\u751f\u548c\u5eb7\u590d\u8bad\u7ec3\u4eba\u5458\uff0c\u800c\u5bb6\u5ead\u7684\u89d2\u8272\uff0c\u6211\u4eec\u8ba4\u4e3a\u662f\u966a\u4f34\u5b69\u5b50\uff0c\u5171\u540c\u4e3a\u773c\u524d\u6bcf\u4e00\u70b9\u5c0f\u5c0f\u7684\u6210\u957f\u611f\u5230\u6b23\u559c\u3002\u4e0e\u5f53\u5730\u652f\u6301\u673a\u6784\u53ca\u4e13\u4e1a\u533b\u7597\u673a\u6784\u5408\u4f5c\uff0c\u5b8c\u5584\u652f\u6301\u4f53\u7cfb\u5341\u5206\u91cd\u8981\u3002<\/p>\n\n\n\n<p>\u5982\u679c\u60a8\u8fd8\u5173\u5fc3\u5176\u4ed6\u5fae\u7f3a\u5931\u7efc\u5408\u5f81\uff0c\u4e5f\u53ef\u4ee5\u53c2\u8003\u4ee5\u4e0b\u6587\u7ae0\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/9p-deletion-syndrome\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">9p\u6b20\u5931\u75c7\u5019\u7fa4 <\/div>\n          <div class=\"blog-card-excerpt\">9p\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u539f\u56e0\u3001\u4e3b\u306a\u75c7\u72b6\u3001\u6cbb\u7642\u6cd5\u3001\u4e88\u5f8c\u3001\u305d\u3057\u3066\u5bb6\u65cf\u304c\u6d3b\u7528\u3067\u304d\u308b\u652f\u63f4\u7b56\u306b\u3064\u3044\u3066\u8a73\u3057\u304f\u89e3\u8aac\u3002\u9069\u5207\u306a\u533b\u7642\u3068\u7642\u80b2\u652f\u63f4\u3067\u751f\u6d3b\u306e\u8cea\u3092\u5411\u4e0a\u3055\u305b\u308b\u65b9\u6cd5...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n    <a href=\"\/nipt\/xp11-23-microdeletion-syndrome\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">Xp11.23 \u5fae\u5c0f\u6b20\u5931\u75c7\u5019\u7fa4 <\/div>\n          <div class=\"blog-card-excerpt\">Xp11.23\u5fae\u5c0f\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u3001X\u67d3\u8272\u4f53\u306ep11.23\u9818\u57df\u306e\u6b20\u5931\u306b\u3088\u308a\u767a\u75c7\u3057\u3001\u767a\u9054\u9045\u5ef6\u3001\u77e5\u7684\u969c\u5bb3\u3001\u884c\u52d5\u554f\u984c\u3001\u5185\u81d3\u306e\u7570\u5e38\u306a\u3069\u306e\u75c7\u72b6\u304c\u73fe\u308c\u307e\u3059\u3002...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n    <a href=\"\/nipt\/distal-chromosome-13q-deletion-syndrome-guide\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">13q\u672b\u7aef\u6b20\u5931\u75c7\u5019\u7fa4 <\/div>\n          <div class=\"blog-card-excerpt\">\u67d3\u8272\u4f5313q\u672b\u7aef\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u8a3a\u65ad\u3055\u308c\u305f\u3054\u5bb6\u65cf\u3078\u3002\u3053\u306e\u5e0c\u5c11\u75be\u60a3\u306e\u75c7\u72b6\uff08\u767a\u9054\u9045\u6ede\u3001\u5c0f\u982d\u75c7\u3001\u8133\u306e\u7279\u6027\u306a\u3069\uff09\u3001\u539f\u56e0\u3001\u691c\u67fb\u65b9\u6cd5\u3001\u305d\u3057\u3066\u65e5\u3005\u306e\u30b1\u30a2\u3084\u7642\u80b2...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<p>\u5982\u679c\u60a8\u62c5\u5fc3\u5fae\u7f3a\u5931\u95ee\u9898\uff0c\u4e5f\u53ef\u4ee5\u53c2\u8003<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-microdeletion-risks\/?lang=zh-hans\">\u5173\u4e8e\u67d3\u8272\u4f53\u5fae\u5c0f\u5f02\u5e38\u98ce\u9669\u7684\u6587\u7ae0<\/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>\u5982\u679c\u8003\u8651\u4e3a\u4e0b\u4e00\u80ce\u8fdb\u884cNIPT\u68c0\u6d4b\uff0c\u5fae\u7f3a\u5931\u7684\u68c0\u6d4b\u8303\u56f4\u4e0d\u540c\uff0c\u9002\u5408\u7684\u65b9\u6848\u4e5f\u4f1a\u6709\u6240\u4e0d\u540c\u3002\u5982\u679c\u4e0d\u786e\u5b9a\u9002\u5408\u81ea\u5df1\u7684\u65b9\u6848\uff0c\u6b22\u8fce\u8bd5\u7528<strong><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/plan-finder\/?lang=en\">\u65b9\u6848\u8bca\u65ad\u5de5\u5177<\/a><\/strong>\u3002\u6211\u4eec\u4e5f\u63a5\u53d7\u7535\u8bdd\u54a8\u8be2\uff0c\u6b22\u8fce\u968f\u65f6\u62e8\u6253<a href=\"tel:0120169629\">0120-169-629<\/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:\/\/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\u6d4b<\/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=\"13q14%E7%BC%BA%E5%A4%B1%E7%BB%BC%E5%90%88%E5%BE%81%E4%B8%8E%E3%80%8C13q%E6%9C%AB%E7%AB%AF%E7%BC%BA%E5%A4%B1%E7%BB%BC%E5%90%88%E5%BE%81%E3%80%8D%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>13q14\u7f3a\u5931\u7efc\u5408\u5f81\u4e0e\u300c13q\u672b\u7aef\u7f3a\u5931\u7efc\u5408\u5f81\u300d\u662f\u540c\u4e00\u79cd\u75be\u75c5\u5417\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u662f\u4e24\u79cd\u4e0d\u540c\u7684\u75be\u75c5\u3002\u4e24\u8005\u867d\u7136\u90fd\u662f13\u53f7\u67d3\u8272\u4f53\u957f\u81c2\u7f3a\u5931\uff0c\u4f46\u672c\u6587\u6240\u8ff0\u75be\u75c5\u4f4d\u4e8eq14\u9644\u8fd1\uff08\u591a\u5305\u542bRB1\u57fa\u56e0\uff09\uff0c\u800c13q\u672b\u7aef\u7f3a\u5931\u7efc\u5408\u5f81\u5219\u662fq31\u4ee5\u8fdc\u7684\u672b\u7aef\u533a\u57df\u7f3a\u5931\uff08\u5305\u542bZIC2\u3001EFNB2\u7b49\u57fa\u56e0\uff09\uff0c\u6d89\u53ca\u7684\u57fa\u56e0\u548c\u4e3b\u8981\u75c7\u72b6\u5747\u4e0d\u76f8\u540c\uff0c\u9700\u8981\u901a\u8fc7\u67d3\u8272\u4f53\u5fae\u9635\u5217\u68c0\u6d4b\u786e\u8ba4\u7f3a\u5931\u8303\u56f4\u52a0\u4ee5\u533a\u5206\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" 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