{"id":84452,"date":"2024-11-14T14:28:28","date_gmt":"2024-11-14T05:28:28","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/10q26-deletion-syndrome\/"},"modified":"2026-07-12T21:24:31","modified_gmt":"2026-07-12T12:24:31","slug":"10q26-deletion-syndrome","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/10q26-deletion-syndrome\/?lang=zh-hans","title":{"rendered":"10q26 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style=\"margin:0;padding-left:1.2em;\">\n<li>10q26\u7f3a\u5931\u7efc\u5408\u5f81\u662f\u600e\u6837\u7684\u67d3\u8272\u4f53\u53d8\u5316<\/li>\n<li>\u4e0e\u540d\u79f0\u76f8\u4f3c\u768410q22\u7f3a\u5931\u300112q14\u7f3a\u5931\u6709\u4f55\u4e0d\u540c<\/li>\n<li>\u4e3a\u4ec0\u4e48\u7f3a\u5931\u8303\u56f4\u4e0d\u540c\u4f1a\u5bfc\u81f4\u75c7\u72b6\u8f7b\u91cd\u4e0d\u540c<\/li>\n<li>\u9057\u4f20\u65b9\u5f0f\uff08\u65b0\u53d1\u7a81\u53d8\u4e0e\u5bb6\u65cf\u9057\u4f20\uff09\u53ca\u5bf9\u4e0b\u4e00\u80ce\u7684\u5f71\u54cd<\/li>\n<li>\u4ea7\u524d\u8bca\u65ad\u30fbNIPT\u662f\u5426\u80fd\u68c0\u6d4b\u51fa\u8fd9\u79cd\u75be\u75c5<\/li>\n<li>\u786e\u8bca\u540e\u7684\u6cbb\u7597\u65b9\u9488\u4e0e\u5bb6\u5ead\u652f\u63f4\u7684\u9009\u62e9<\/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\" height=\"10px\" viewBox=\"0 0 24 24\" version=\"1.2\" baseProfile=\"tiny\"><path d=\"M18.2 9.3l-6.2-6.3-6.2 6.3c-.2.2-.3.4-.3.7s.1.5.3.7c.2.2.4.3.7.3h11c.3 0 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ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/10q26-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%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\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-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/10q26-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%97%85%E4%BE%8B\" >\u65b0\u53d1\u7a81\u53d8\uff08\u5076\u53d1\u6027\u53d8\u5316\uff09\u75c5\u4f8b<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-6\" 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/10q26-deletion-syndrome\/?lang=zh-hans\/#7_%E6%B2%BB%E7%96%97%E4%B8%8E%E6%94%AF%E6%8F%B4\" >7. \u6cbb\u7597\u4e0e\u652f\u63f4<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-13\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/10q26-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-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/10q26-deletion-syndrome\/?lang=zh-hans\/#9_%E5%AE%B6%E5%BA%AD%E6%94%AF%E6%8F%B4%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\u63f4\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 class=\"ez-toc-link ez-toc-heading-15\" 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/10q26-deletion-syndrome\/?lang=zh-hans\/#%E4%B8%8E%E6%9C%AC%E7%AB%99%E7%9A%84%E2%80%9D10q22-3q23-2%E7%BC%BA%E5%A4%B1%E7%BB%BC%E5%90%88%E5%BE%81%E2%80%9D%E6%88%96%E2%80%9D12q14%E5%BE%AE%E7%BC%BA%E5%A4%B1%E7%BB%BC%E5%90%88%E5%BE%81%E2%80%9D%E6%96%87%E7%AB%A0%E4%BB%8B%E7%BB%8D%E7%9A%84%E6%98%AF%E5%90%8C%E4%B8%80%E7%A7%8D%E7%96%BE%E7%97%85%E5%90%97%EF%BC%9F\" >\u4e0e\u672c\u7ad9\u7684&#8221;10q22-3q23-2\u7f3a\u5931\u7efc\u5408\u5f81&#8221;\u6216&#8221;12q14\u5fae\u7f3a\u5931\u7efc\u5408\u5f81&#8221;\u6587\u7ae0\u4ecb\u7ecd\u7684\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-18\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/10q26-deletion-syndrome\/?lang=zh-hans\/#NIPT%E8%83%BD%E6%A3%80%E6%B5%8B%E5%87%BA10q26%E5%8C%BA%E5%9F%9F%E7%9A%84%E7%BC%BA%E5%A4%B1%E5%90%97%EF%BC%9F\" >NIPT\u80fd\u68c0\u6d4b\u51fa10q26\u533a\u57df\u7684\u7f3a\u5931\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\/10q26-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-20\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/10q26-deletion-syndrome\/?lang=zh-hans\/#%E7%94%9F%E6%AE%96%E5%99%A8%E5%BC%82%E5%B8%B8%E4%B8%80%E5%AE%9A%E4%BC%9A%E5%87%BA%E7%8E%B0%E5%90%97%EF%BC%9F\" >\u751f\u6b96\u5668\u5f02\u5e38\u4e00\u5b9a\u4f1a\u51fa\u73b0\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\/10q26-deletion-syndrome\/?lang=zh-hans\/#%E6%9C%89%E5%93%AA%E4%BA%9B%E6%B2%BB%E7%96%97%E6%96%B9%E6%B3%95%EF%BC%9F\" >\u6709\u54ea\u4e9b\u6cbb\u7597\u65b9\u6cd5\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%AF10q26%E7%BC%BA%E5%A4%B1%E7%BB%BC%E5%90%88%E5%BE%81%EF%BC%88%E5%BC%95%E8%B5%B7%E8%AF%A5%E7%97%85%E7%9A%84%E6%9F%93%E8%89%B2%E4%BD%93%E5%8F%98%E5%8C%96%EF%BC%89\"><\/span><strong>1. \u4ec0\u4e48\u662f10q26\u7f3a\u5931\u7efc\u5408\u5f81\uff08\u5f15\u8d77\u8be5\u75c5\u7684\u67d3\u8272\u4f53\u53d8\u5316\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u8be5\u75c5\u662f\u630710\u53f7\u67d3\u8272\u4f53\u957f\u81c2\uff08q\uff09\u672b\u7aef&#8221;26&#8243;\u533a\u57df\u5148\u5929\u6027\u7f3a\u5931\u7684\u72b6\u6001\u3002<\/strong>\u533b\u5b66\u4e0a\u4e5f\u79f0\u4e3a&#8221;\u8fdc\u7aef10q\u7f3a\u5931\u7efc\u5408\u5f81\uff08distal 10q deletion syndrome\uff09&#8221;\uff0c\u662f\u6307\u540c\u4e00\u79cd\u75be\u75c5\u7684\u522b\u79f0\u3002<\/p>\n\n\n\n<p>\u636e\u7f8e\u56fd\u56fd\u7acb\u536b\u751f\u7814\u7a76\u9662\uff08NIH\uff09\u8fd0\u8425\u7684\u7f55\u89c1\u75c5\u4fe1\u606f\u4e2d\u5fc3<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/3711\/distal-10q-deletion-syndrome\" target=\"_blank\" rel=\"noopener\">GARD\uff08Genetic and Rare Diseases Information Center\uff09<\/a>\u4ecb\u7ecd\uff0c\u7f3a\u5931\u8303\u56f4\u56e0\u75c5\u4f8b\u800c\u5f02\uff0c\u4e3a3.5\uff5e17\u5146\u78b1\u57fa\u5bf9\uff08Mb\uff09\uff0c\u5e76\u65e0\u56fa\u5b9a\u5927\u5c0f\uff0c\u4e2a\u4f53\u5dee\u5f02\u8f83\u5927\u3002\u7f8e\u56fd\u56fd\u7acb\u533b\u5b66\u56fe\u4e66\u9986\u8fd0\u8425\u7684<a href=\"https:\/\/medlineplus.gov\/genetics\/condition\/10q26-deletion-syndrome\/\" target=\"_blank\" rel=\"noopener\">MedlinePlus<\/a>\u5c06\u8be5\u75c5\u63cf\u8ff0\u4e3a&#8221;\u8fc4\u4eca\u4e3a\u6b62\u5b66\u672f\u8bba\u6587\u4e2d\u81f3\u5c11\u62a5\u544a\u4e86100\u4f8b&#8221;\u7684\u6781\u4e3a\u7f55\u89c1\u7684\u67d3\u8272\u4f53\u75be\u75c5\u3002\u6b27\u6d32\u7f55\u89c1\u75c5\u6570\u636e\u5e93<a href=\"https:\/\/www.orpha.net\/en\/disease\/detail\/96148\" target=\"_blank\" rel=\"noopener\">Orphanet\uff08\u8fdc\u7aef10q\u7f3a\u5931\u7efc\u5408\u5f81\uff09<\/a>\u4e5f\u5c06\u5176\u5217\u4e3a\u6781\u4e3a\u7f55\u89c1\u7684\u75be\u75c5\u3002<\/p>\n\n\n\n<p>2016\u5e74\u53d1\u8868\u7684<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC5355737\/\" target=\"_blank\" rel=\"noopener\">\u75c5\u4f8b\u62a5\u544a\u4e0e\u6587\u732e\u7efc\u8ff0<\/a>\u6c47\u603b\u4e86\u5168\u7403110\u4f59\u4f8b\u62a5\u544a\u75c5\u4f8b\uff0c\u5e76\u6307\u51fa\u4e0e\u75c7\u72b6\u5bc6\u5207\u76f8\u5173\u7684\u57fa\u56e0\u5305\u62ec<strong>FGFR2\u3001DOCK1\u3001CTBP2<\/strong>\u7b49\u3002\u7f3a\u5931\u8303\u56f4\u4e2d\u5305\u542b\u54ea\u4e9b\u57fa\u56e0\u56e0\u4eba\u800c\u5f02\uff0c\u8fd9\u4e5f\u662f\u6bcf\u4f4d\u60a3\u8005\u75c7\u72b6\u7ec4\u5408\u5404\u4e0d\u76f8\u540c\u7684\u539f\u56e0\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/10q22-3-q23-2-deletion-syndrome\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u5206\u88c2\u624b\u8db3\u5947\u5f623\u578b\uff08SHFM3\uff09- 10q24 <\/div>\n          <div class=\"blog-card-excerpt\">SHFM3\uff08\u5206\u88c2\u624b\u8db3\u5947\u5f623\u578b\uff09\u306f\u3001\u624b\u3084\u8db3\u306e\u767a\u9054\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u73cd\u3057\u3044\u907a\u4f1d\u6027\u306e\u75c5\u6c17\u3067\u3059\u3002\u907a\u4f1d\u5b50\u5909\u7570\u306b\u3088\u308b\u539f\u56e0\u3068\u8a3a\u65ad\u65b9\u6cd5\u3001\u6cbb\u7642\u6cd5\u3001\u4e88\u5f8c\u306b\u3064\u3044\u3066\u8a73\u3057...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E4%B8%8E%E7%9B%B8%E4%BC%BC%E7%97%85%E5%90%8D%E7%96%BE%E7%97%85%E7%9A%84%E5%8C%BA%E5%88%AB%EF%BC%8810%E5%8F%B7%E6%9F%93%E8%89%B2%E4%BD%93%E5%85%B6%E4%BB%96%E5%8C%BA%E5%9F%9F%E3%83%BB12%E5%8F%B7%E6%9F%93%E8%89%B2%E4%BD%93%E7%9A%84%E6%AF%94%E8%BE%83%EF%BC%89\"><\/span><strong>2. \u4e0e\u76f8\u4f3c\u75c5\u540d\u75be\u75c5\u7684\u533a\u522b\uff0810\u53f7\u67d3\u8272\u4f53\u5176\u4ed6\u533a\u57df\u30fb12\u53f7\u67d3\u8272\u4f53\u7684\u6bd4\u8f83\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u5373\u4f7f\u7edf\u79f0\u4e3a&#8221;10\u53f7\u67d3\u8272\u4f53\u5f02\u5e38&#8221;\uff0c\u7f3a\u5931\u4f4d\u7f6e\u4e0d\u540c\uff0c\u6d89\u53ca\u7684\u57fa\u56e0\u548c\u51fa\u73b0\u7684\u75c7\u72b6\u4e5f\u4f1a\u5b8c\u5168\u4e0d\u540c\u3002<\/strong>\u4e0b\u9762\u6574\u7406\u672c\u7ad9\u4ecb\u7ecd\u7684\u76f8\u4f3c\u75c5\u540d\u75be\u75c5\u4e4b\u95f4\u7684\u533a\u522b\u3002<\/p>\n\n\n\n<figure class=\"wp-table-block\"><table><thead><tr><th>\u75c5\u540d<\/th><th>\u67d3\u8272\u4f53\u4f4d\u7f6e<\/th><th>\u4e3b\u8981\u76f8\u5173\u57fa\u56e0<\/th><th>\u6838\u5fc3\u7279\u5f81<\/th><\/tr><\/thead><tbody><tr><td>10q26\u7f3a\u5931\u7efc\u5408\u5f81\uff08\u672c\u6587\uff09<\/td><td>10\u53f7\u67d3\u8272\u4f53\u30fb\u957f\u81c2\u672b\u7aef\uff08q26\uff09<\/td><td>FGFR2\u3001DOCK1\u3001CTBP2\u7b49<\/td><td>\u751f\u957f\u8fdf\u7f13\u30fb\u53d1\u80b2\u8fdf\u7f13\u30fb\u751f\u6b96\u5668\u5f02\u5e38\uff0c\u89c6\u7f3a\u5931\u8303\u56f4\u53ef\u4f34\u5fc3\u80be\u5e76\u53d1\u75c7<\/td><\/tr><tr><td>10q22-3q23-2\u7f3a\u5931\u7efc\u5408\u5f81<\/td><td>10\u53f7\u67d3\u8272\u4f53\u30fb\u957f\u81c2\u4e2d\u592e\u9644\u8fd1\uff08q22-q23\uff09<\/td><td>\u4e0e\u672c\u6587\u4e0d\u540c\u533a\u57df\u7684\u57fa\u56e0<\/td><td>\u75c7\u72b6\u7ec4\u5408\u4e0d\u540c\uff08\u8be6\u89c1\u76f8\u5173\u6587\u7ae0\uff09<\/td><\/tr><tr><td>12q14\u5fae\u7f3a\u5931\u7efc\u5408\u5f81<\/td><td>12\u53f7\u67d3\u8272\u4f53\uff08\u4e0d\u540c\u67d3\u8272\u4f53\uff09<\/td><td>HMGA2\u7b49<\/td><td>\u4ee5\u8eab\u6750\u77ee\u5c0f\u30fb\u9aa8\u9abc\u7279\u5f81\u4e3a\u4e3b\uff08\u8be6\u89c1\u76f8\u5173\u6587\u7ae0\uff09<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<p>\u5373\u4f7f\u540c\u6837\u662f&#8221;\u67d3\u8272\u4f53\u4e00\u90e8\u5206\u7f3a\u5931&#8221;\u8fd9\u4e00\u673a\u5236\uff0c\u4f4d\u7f6e\u4e0d\u540c\uff0c\u6d89\u53ca\u7684\u57fa\u56e0\u5c31\u4e0d\u540c\uff0c\u6838\u5fc3\u75c7\u72b6\u4e5f\u968f\u4e4b\u6539\u53d8\u3002\u5173\u4e8e\u5404\u75be\u75c5\u7684\u8be6\u7ec6\u4fe1\u606f\uff0c\u8bf7\u53c2\u9605<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/10q22-3-q23-2-deletion-syndrome\/?lang=zh-hans\">10q22-3q23-2\u7f3a\u5931\u7efc\u5408\u5f81\u89e3\u8bf4\u6587\u7ae0<\/a>\u548c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/12q14-microdeletion-syndrome\/?lang=zh-hans\">12q14\u5fae\u7f3a\u5931\u7efc\u5408\u5f81\u89e3\u8bf4\u6587\u7ae0<\/a>\u3002<\/p>\n\n\n\n<p>\u6b64\u5916\uff0c\u672c\u7ad9\u8fd8\u6709<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/15q26-qter-deletion-syndrome\/?lang=zh-hans\">15q26-qter\u7f3a\u5931\u7efc\u5408\u5f81<\/a>\u7684\u89e3\u8bf4\u6587\u7ae0\u3002\u867d\u7136\u6d89\u53ca\u7684\u67d3\u8272\u4f53\u4e0d\u540c\uff0c\u4f46\u540c\u6837\u5c5e\u4e8e&#8221;\u67d3\u8272\u4f53\u672b\u7aef\u7f3a\u5931&#8221;\u8fd9\u4e00\u673a\u5236\uff0c\u53ef\u4f5c\u4e3a\u7406\u89e3\u672b\u7aef\u7f3a\u5931\u6982\u5ff5\u7684\u53c2\u8003\u3002<\/p>\n\n\n\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%EF%BC%88%E7%97%87%E7%8A%B6%E5%9B%A0%E7%BC%BA%E5%A4%B1%E8%8C%83%E5%9B%B4%E8%80%8C%E5%BC%82%EF%BC%89\"><\/span><strong>3. \u4e3b\u8981\u75c7\u72b6\uff08\u75c7\u72b6\u56e0\u7f3a\u5931\u8303\u56f4\u800c\u5f02\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u7531\u4e8e\u7f3a\u5931\u8d77\u59cb\u4f4d\u7f6e\u4e0d\u540c\uff0c\u6d89\u53ca\u7684\u57fa\u56e0\u4e5f\u4f1a\u6539\u53d8\uff0c\u56e0\u6b64\u6bcf\u4f4d\u60a3\u8005\u75c7\u72b6\u7684\u7ec4\u5408\u4e0e\u4e25\u91cd\u7a0b\u5ea6\u90fd\u4e0d\u5c3d\u76f8\u540c\u3002<\/strong>2015\u5e74\u53d1\u8868\u7684<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/25655674\/\" target=\"_blank\" rel=\"noopener\">\u4e34\u5e8a\u6bd4\u8f83\u7814\u7a76<\/a>\u663e\u793a\uff0c\u7f3a\u5931\u8303\u56f4\u5927\u5c0f\u4e0d\u540c\uff0c\u75c7\u72b6\u503e\u5411\u4e5f\u4f1a\u6709\u6240\u5dee\u5f02\u3002<\/p>\n\n\n\n<figure class=\"wp-table-block\"><table><thead><tr><th>\u75c7\u72b6\u30fb\u7279\u5f81<\/th><th>\u62a5\u544a\u60c5\u51b5<\/th><\/tr><\/thead><tbody><tr><td>\u80ce\u513f\u671f\u30fb\u51fa\u751f\u540e\u751f\u957f\u8fdf\u7f13<\/td><td>\u4f5c\u4e3a\u6838\u5fc3\u75c7\u72b6\uff0c\u5e38\u8868\u73b0\u4e3a\u5bab\u5185\u53d1\u80b2\u8fdf\u7f13\uff08IUGR\uff09\u6216\u51fa\u751f\u540e\u4f53\u91cd\u589e\u957f\u4e0d\u826f<\/td><\/tr><tr><td>\u53d1\u80b2\u8fdf\u7f13\u30fb\u667a\u529b\u969c\u788d<\/td><td>\u4ee5\u8f7b\u5ea6\u81f3\u4e2d\u5ea6\u4e3a\u4e3b\uff0c\u591a\u8868\u73b0\u4e3a\u8bed\u8a00\u6216\u8fd0\u52a8\u53d1\u80b2\u8fdf\u7f13<\/td><\/tr><tr><td>\u7279\u5f81\u6027\u9762\u90e8\u7279\u5f81<\/td><td>\u9f3b\u6839\u5bbd\u9614\u3001\u9f3b\u5c16\u4e0a\u7fd8\u3001\u4e0b\u988c\u5c0f\uff08\u5c0f\u988c\u75c7\uff09\u3001\u8033\u4f4d\u4f4e\u3001\u5c0f\u5934\u7578\u5f62\u7b49<\/td><\/tr><tr><td>\u751f\u6b96\u5668\u5f02\u5e38\uff08\u7537\u6027\u591a\u89c1\uff09<\/td><td>\u5c3f\u9053\u4e0b\u88c2\u3001\u9690\u777e\u3001\u9634\u830e\u77ed\u5c0f\u7b49\uff0c\u591a\u89c1\u4e8e\u672b\u7aef\u4fa7\uff0810q26.2\uff09\u7f3a\u5931\u75c5\u4f8b<\/td><\/tr><tr><td>\u80be\u810f\u30fb\u5c3f\u8def\u5f02\u5e38<\/td><td>\u591a\u89c1\u4e8e\u7f3a\u5931\u8303\u56f4\u5ef6\u4f38\u81f3\u66f4\u5185\u4fa7\uff0810q26.12\uff5e10q26.13\uff09\u7684\u75c5\u4f8b<\/td><\/tr><tr><td>\u5148\u5929\u6027\u5fc3\u810f\u75c5<\/td><td>\u5df2\u6709\u623f\u95f4\u9694\u7f3a\u635f\u3001\u52a8\u8109\u5bfc\u7ba1\u672a\u95ed\u7b49\u62a5\u544a<\/td><\/tr><tr><td>\u542c\u529b\u969c\u788d<\/td><td>\u4e0eWDR11\u3001HMX2\u3001HMX3\u57fa\u56e0\u76f8\u5173<\/td><\/tr><tr><td>\u884c\u4e3a\u65b9\u9762\u7279\u5f81<\/td><td>\u6ce8\u610f\u7f3a\u9677\u591a\u52a8\u969c\u788d\uff08<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/adhd-genetics-symptoms-support\/\">ADHD<\/a>\uff09\u3001\u51b2\u52a8\u6027\u3001\u81ea\u95ed\u503e\u5411\u7b49<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<p>\u8fd9\u91cc\u9700\u8981\u6ce8\u610f\u7684\u662f\uff0c<strong>\u5e76\u975e\u6240\u6709\u75c7\u72b6\u90fd\u4f1a\u51fa\u73b0\u5728\u6bcf\u4e00\u4f4d\u60a3\u8005\u8eab\u4e0a<\/strong>\u3002\u524d\u8ff02015\u5e74\u7684\u7814\u7a76\u663e\u793a\uff0c\u4ec5\u9650\u4e8e\u672b\u7aef\u4fa7\u7684\u8f83\u5c0f\u7f3a\u5931\u5f80\u5f80\u4ee5\u751f\u6b96\u5668\u5f02\u5e38\u548c\u53d1\u80b2\u8fdf\u7f13\u4e3a\u4e3b\u8981\u75c7\u72b6\uff0c\u800c\u5ef6\u4f38\u81f3\u66f4\u5185\u4fa7\uff0810q26.12\uff5e13\uff09\u7684\u8f83\u5927\u7f3a\u5931\u5219\u66f4\u5bb9\u6613\u5408\u5e76\u80be\u810f\u30fb\u5c3f\u8def\u5f02\u5e38\u3002\u8bca\u65ad\u4e66\u4e0a\u8bb0\u8f7d\u7684\u7f3a\u5931\u8303\u56f4\uff0c\u8bf7\u4e0e\u4e3b\u6cbb\u533b\u751f\u4e00\u8d77\u786e\u8ba4\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%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\u9057\u4f20\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u591a\u6570\u4e3a\u5076\u53d1\u6027\u53d8\u5316\uff08\u65b0\u53d1\u7a81\u53d8\uff0cde novo\uff09\uff0c\u5bf9\u4e0b\u4e00\u80ce\u7684\u5f71\u54cd\u56e0\u5bb6\u65cf\u60c5\u51b5\u800c\u5f02\u3002<\/strong>\u8be5\u75c5\u9057\u4f20\u65b9\u5f0f\u4e3a\u663e\u6027\u9057\u4f20\uff0c\u4e00\u5bf9\u67d3\u8272\u4f53\u4e2d\u53ea\u8981\u6709\u4e00\u6761\u53d1\u751f\u7f3a\u5931\u5373\u53ef\u51fa\u73b0\u75c7\u72b6\u3002<\/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%97%85%E4%BE%8B\"><\/span><strong>\u65b0\u53d1\u7a81\u53d8\uff08\u5076\u53d1\u6027\u53d8\u5316\uff09\u75c5\u4f8b<\/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\u8fc7\u7a0b\u4e2d\uff0c\u53ef\u80fd\u5076\u7136\u53d1\u751f\u8fd9\u79cd\u7f3a\u5931\u3002\u524d\u8ff02016\u5e74\u7684\u75c5\u4f8b\u62a5\u544a\u4e2d\uff0c\u62a5\u544a\u7684\u4e24\u4f8b\u60a3\u8005\u53cc\u4eb2\u7684\u67d3\u8272\u4f53\u5747\u6b63\u5e38\uff0c\u8bc1\u5b9e\u5176\u4e3a\u65b0\u53d1\u7a81\u53d8\u3002<strong>\u8fd9\u5e76\u975e\u7531\u5b55\u671f\u996e\u98df\u6216\u751f\u6d3b\u4e60\u60ef\u6240\u81f4\u3002<\/strong>\u5728\u95e8\u8bca\u4e2d\uff0c\u6211\u603b\u662f\u544a\u8bc9\u5bb6\u957f\u4e0d\u5fc5\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%E9%81%97%E4%BC%A0%E7%97%85%E4%BE%8B\"><\/span><strong>\u5bb6\u65cf\u9057\u4f20\u75c5\u4f8b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6781\u5c11\u6570\u60c5\u51b5\u4e0b\uff0c\u7236\u6bcd\u4e00\u65b9\u65e0\u75c7\u72b6\u643a\u5e26\u5e73\u8861\u578b\u67d3\u8272\u4f53\u6613\u4f4d\uff08\u9057\u4f20\u4fe1\u606f\u603b\u91cf\u4e0d\u53d8\uff0c\u4f46\u6392\u5217\u987a\u5e8f\u53d1\u751f\u4e86\u4e92\u6362\uff09\uff0c\u8fd9\u79cd\u6392\u5217\u5728\u4e0b\u4e00\u4ee3\u4e2d\u53ef\u80fd\u53d8\u4e3a\u4e0d\u5e73\u8861\u72b6\u6001\uff0c\u4ece\u800c\u8868\u73b0\u4e3a\u7f3a\u5931\u3002\u8fd9\u79cd\u60c5\u51b5\u4e0b\uff0c\u7406\u8bba\u4e0a\u4f20\u7ed9\u4e0b\u4e00\u80ce\u7684\u6982\u7387\u7ea6\u4e3a50%\u3002\u8981\u51c6\u786e\u4e86\u89e3\u5bb6\u65cf\u7684\u9057\u4f20\u65b9\u5f0f\uff0c\u53cc\u4eb2\u7684\u67d3\u8272\u4f53\u68c0\u67e5\u4f1a\u5f88\u6709\u5e2e\u52a9\u3002<\/p>\n\n\n\n<p>\u5982\u679c\u62c5\u5fc3\u5bf9\u4e0b\u4e00\u80ce\u7684\u5f71\u54cd\uff0c\u5efa\u8bae\u8003\u8651\u63a5\u53d7\u4e34\u5e8a\u9057\u4f20\u4e13\u79d1\u533b\u751f\u6216\u8ba4\u8bc1\u9057\u4f20\u54a8\u8be2\u5e08\u7684\u9057\u4f20\u54a8\u8be2\u3002\u4ec5\u4e86\u89e3\u53cc\u4eb2\u7684\u68c0\u67e5\u7ed3\u679c\uff0c\u4e5f\u6709\u52a9\u4e8e\u4e3a\u4e0b\u4e00\u6b21\u598a\u5a20\u505a\u597d\u89c4\u5212\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/12q14-microdeletion-syndrome\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">12q14\u5fae\u5c0f\u6b20\u5931\u75c7\u5019\u7fa4 <\/div>\n          <div class=\"blog-card-excerpt\">12q14\u5fae\u5c0f\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u300112\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\u306e\u4e00\u90e8\u304c\u6b20\u5931\u3059\u308b\u3053\u3068\u3067\u767a\u751f\u3059\u308b\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002\u767a\u80b2\u4e0d\u5168\u3084\u9aa8\u306e\u7570\u5e38\u3001\u77e5\u7684\u969c\u5bb3\u304c\u7279\u5fb4\u3067\u3001\u6cbb\u7642\u6cd5\u3084\u5bb6...<\/div>\n      <\/div>\n    <\/a>\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%E8%AF%8A%E6%96%AD%E3%83%BBNIPT%E7%9A%84%E5%85%B3%E7%B3%BB\"><\/span><strong>5. \u4e0e\u4ea7\u524d\u8bca\u65ad\u30fbNIPT\u7684\u5173\u7cfb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>10q26\u533a\u57df\u7684\u672b\u7aef\u7f3a\u5931\u5e76\u4e0d\u5728\u6807\u51c6NIPT\u7684\u68c0\u6d4b\u8303\u56f4\u5185\uff0c\u5373\u4f7f\u662f\u5c06\u68c0\u6d4b\u8303\u56f4\u6269\u5927\u81f3\u5fae\u7f3a\u5931\u7684\u6269\u5c55\u68c0\u6d4b\uff0c\u660e\u786e\u5c06\u5176\u5217\u5165\u68c0\u6d4b\u5bf9\u8c61\u7684\u68c0\u6d4b\u673a\u6784\u4e5f\u5341\u5206\u6709\u9650\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&#8221;\u6570\u76ee&#8221;\u5f02\u5e38\u3002\u90e8\u5206\u6269\u5c55\u65b9\u6848\u4e5f\u5305\u542b\u76f8\u5bf9\u591a\u89c1\u7684\u5fae\u7f3a\u5931\uff08\u598222q11.2\u7f3a\u5931\u7efc\u5408\u5f81\u7b49\uff09\uff0c\u4f46\u5982\u524d\u6240\u8ff0\uff0c10q26\u533a\u57df\u5168\u7403\u62a5\u544a\u75c5\u4f8b\u4ec5\u7ea6100\u4f8b\uff0c\u5c5e\u4e8e\u6781\u4e3a\u7f55\u89c1\u7684\u533a\u57df\uff0c\u56e0\u6b64\u5c06\u5176\u7eb3\u5165\u6807\u51c6\u68c0\u6d4b\u8303\u56f4\u7684\u68c0\u6d4b\u673a\u6784\u5e76\u4e0d\u591a\u3002\u5404\u68c0\u6d4b\u673a\u6784\u7684\u68c0\u6d4b\u8303\u56f4\u5b58\u5728\u5dee\u5f02\uff0c\u5efa\u8bae\u63d0\u524d\u786e\u8ba4\u60a8\u6240\u8003\u8651\u65b9\u6848\u7684\u5177\u4f53\u68c0\u6d4b\u5bf9\u8c61\u8303\u56f4\u3002<\/p>\n\n\n\n<p>\u5728\u6211\u4eecHiro Clinic <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>\uff0c\u4e5f\u66fe\u63a5\u5230&#8221;\u80ce\u513f\u8d85\u58f0\u68c0\u67e5\u63d0\u793a\u53d1\u80b2\u8fdf\u7f13\u6216\u5fc3\u810f\u5f02\u5e38\uff0c\u62c5\u5fc3\u662f\u67d3\u8272\u4f53\u53d8\u5316&#8221;\u7684\u54a8\u8be2\u3002\u9996\u5148\u9700\u8981\u4e86\u89e3\u7684\u662f\uff0c<strong>NIPT\u7ec8\u7a76\u53ea\u662f\u4e00\u9879\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\uff08\u516c\u76ca\u793e\u56e2\u6cd5\u4eba\uff09\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>\u4e2d\u4e5f\u660e\u786e\u6307\u51fa\uff0cNIPT\u7684\u68c0\u6d4b\u7ed3\u679c\u4ecd\u5c5e\u4e8e\u7b5b\u67e5\uff08\u975e\u786e\u5b9a\u6027\uff09\u68c0\u6d4b\u7684\u8303\u7574\u3002\u786e\u8bca\u9700\u8981\u901a\u8fc7\u7f8a\u6c34\u68c0\u67e5\u7b49\u4fb5\u5165\u6027\u68c0\u67e5\u8fdb\u884c\u3002\u8d85\u58f0\u68c0\u67e5\u4e2d\u63d0\u793a\u7684\u80ce\u513f\u53d1\u80b2\u4e0d\u826f\u6216\u5fc3\u810f\u5f02\u5e38\uff0c\u5176\u539f\u56e0\u672a\u5fc5\u4ec5\u9650\u4e8e\u67d3\u8272\u4f53\u5f02\u5e38\uff0c\u4e5f\u53ef\u80fd\u5b58\u5728\u5176\u4ed6\u56e0\u7d20\u3002\u8bf7\u4e0d\u8981\u6025\u4e8e\u4e0b\u7ed3\u8bba\uff0c\u4e0e\u4e13\u4e1a\u533b\u751f\u4e00\u8d77\u9010\u9879\u786e\u8ba4\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"6_%E7%A1%AE%E8%AF%8A%E6%B5%81%E7%A8%8B\"><\/span><strong>6. \u786e\u8bca\u6d41\u7a0b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u786e\u8bca\u4e3b\u8981\u4f9d\u9760\u67d3\u8272\u4f53\u5fae\u9635\u5217\u68c0\u6d4b\uff08CMA\uff09\u8fd9\u4e00\u7cbe\u5bc6\u68c0\u67e5\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>\u8be5\u68c0\u6d4b\u80fd\u591f\u68c0\u51fa\u4f20\u7edf\u663e\u5fae\u955c\u67d3\u8272\u4f53\u68c0\u67e5\uff08G\u663e\u5e26\u6cd5\uff09\u65e0\u6cd5\u53d1\u73b0\u7684\u3001\u6570kb\u81f3\u6570Mb\u7ea7\u522b\u7684\u5fae\u5c0f\u7f3a\u5931\u3002\u901a\u8fc7\u8be5\u68c0\u6d4b\uff0c\u53ef\u4ee5\u8be6\u7ec6\u4e86\u89e3\u7f3a\u5931\u7684\u5177\u4f53\u8303\u56f4\uff0c\u4ee5\u53ca\u662f\u5426\u5305\u542bFGFR2\u3001DOCK1\u7b49\u57fa\u56e0\u3002\u5173\u4e8e\u7f8a\u6c34\u68c0\u67e5\u4e0e\u5fae\u9635\u5217\u68c0\u6d4b\u7684\u5173\u7cfb\uff0c\u8be6\u89c1<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/?lang=zh-hans\">\u7f8a\u6c34\u68c0\u67e5\u5fae\u9635\u5217\u6cd5\u89e3\u8bf4\u6587\u7ae0<\/a>\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%8F%8C%E4%BA%B2%E6%A3%80%E6%9F%A5\"><\/span><strong>\u53cc\u4eb2\u68c0\u67e5<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u901a\u8fc7\u68c0\u6d4b\u53cc\u4eb2\u7684\u8840\u6db2\uff0c\u53ef\u4ee5\u5224\u65ad\u8be5\u7f3a\u5931\u662f\u65b0\u53d1\u7a81\u53d8\uff0c\u8fd8\u662f\u901a\u8fc7\u5e73\u8861\u578b\u6613\u4f4d\u5728\u5bb6\u65cf\u5185\u9057\u4f20\u800c\u6765\u3002\u8fd9\u5bf9\u4e8e\u8003\u8651\u4e0b\u4e00\u80ce\u7684\u60c5\u51b5\u4e5f\u662f\u91cd\u8981\u7684\u68c0\u67e5\u4fe1\u606f\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%E8%AF%84%E4%BC%B0\"><\/span><strong>\u51fa\u751f\u540e\u8bc4\u4f30<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u786e\u8bca\u540e\uff0c\u533b\u751f\u4f1a\u7efc\u5408\u751f\u957f\u66f2\u7ebf\u8bb0\u5f55\u3001\u5fc3\u810f\u8d85\u58f0\u68c0\u67e5\uff08\u786e\u8ba4\u662f\u5426\u6709\u5fc3\u810f\u75be\u75c5\uff09\u3001\u80be\u810f\u8d85\u58f0\u68c0\u67e5\u3001\u542c\u529b\u68c0\u67e5\u3001\u53d1\u80b2\u68c0\u67e5\u7b49\u591a\u9879\u8bc4\u4f30\uff0c\u5168\u9762\u638c\u63e1\u5b69\u5b50\u7684\u5065\u5eb7\u72b6\u6001\u3002<\/p>\n\n\n\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%8F%B4\"><\/span><strong>7. \u6cbb\u7597\u4e0e\u652f\u63f4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u76ee\u524d\u5c1a\u65e0\u80fd\u591f\u6062\u590d\u67d3\u8272\u4f53\u7f3a\u5931\u90e8\u5206\u7684\u6839\u672c\u6027\u6cbb\u7597\u65b9\u6cd5\uff0c\u4f46\u901a\u8fc7\u591a\u5b66\u79d1\u534f\u4f5c\u652f\u63f4\uff0c\u53ef\u4ee5\u4fc3\u8fdb\u5b69\u5b50\u7684\u6210\u957f\u4e0e\u53d1\u80b2\u3002<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u53d1\u80b2\u652f\u63f4\uff08\u5eb7\u590d\u8bad\u7ec3\uff09<\/strong>\uff1a\u901a\u8fc7\u7269\u7406\u6cbb\u7597\uff08PT\uff09\u3001\u4f5c\u4e1a\u6cbb\u7597\uff08OT\uff09\u3001\u8a00\u8bed\u6cbb\u7597\uff08ST\uff09\u7b49\uff0c\u4fc3\u8fdb\u8fd0\u52a8\u30fb\u8bed\u8a00\u30fb\u65e5\u5e38\u751f\u6d3b\u52a8\u4f5c\u7684\u53d1\u80b2\u3002<\/li>\n\n\n\n<li><strong>\u5fc3\u810f\u75be\u75c5\u30fb\u80be\u810f\u75be\u75c5\u7ba1\u7406<\/strong>\uff1a\u4e0e\u5c0f\u513f\u5faa\u73af\u79d1\u3001\u5c0f\u513f\u80be\u810f\u79d1\u5408\u4f5c\uff0c\u6839\u636e\u4e25\u91cd\u7a0b\u5ea6\u51b3\u5b9a\u89c2\u5bdf\u968f\u8bbf\u6216\u79ef\u6781\u6cbb\u7597\u3002<\/li>\n\n\n\n<li><strong>\u542c\u529b\u30fb\u89c6\u529b\u62a4\u7406<\/strong>\uff1a\u9488\u5bf9\u542c\u529b\u969c\u788d\u3001\u659c\u89c6\u3001\u5c48\u5149\u4e0d\u6b63\u7b49\uff0c\u91c7\u7528\u52a9\u542c\u5668\u6216\u773c\u79d1\u77eb\u6b63\u7b49\u65b9\u5f0f\u5e94\u5bf9\u3002<\/li>\n\n\n\n<li><strong>\u884c\u4e3a\u65b9\u9762\u652f\u63f4<\/strong>\uff1a\u9488\u5bf9\u6ce8\u610f\u7f3a\u9677\u591a\u52a8\u969c\u788d\uff08<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/adhd-genetics-symptoms-support\/\">ADHD<\/a>\uff09\u3001\u51b2\u52a8\u6027\u7b49\uff0c\u63d0\u4f9b\u5fc3\u7406\u6cbb\u7597\u53ca\u5eb7\u590d\u8bad\u7ec3\u7b49\u652f\u63f4\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u7531\u4e8e\u6bcf\u4f4d\u60a3\u8005\u75c7\u72b6\u7684\u7ec4\u5408\u4e0e\u4e25\u91cd\u7a0b\u5ea6\u90fd\u4e0d\u5c3d\u76f8\u540c\uff0c\u8be5\u75c5\u5e76\u6ca1\u6709&#8221;\u4e00\u5b9a\u4f1a\u8fd9\u6837\u53d1\u5c55&#8221;\u7684\u56fa\u5b9a\u75c5\u7a0b\u3002\u9700\u8981\u4e0e\u4e3b\u6cbb\u5c0f\u513f\u79d1\u533b\u751f\u3001\u76f8\u5173\u4e13\u79d1\u53ca\u5eb7\u590d\u4eba\u5458\u5171\u540c\u534f\u5546\uff0c\u9010\u6b65\u4e3a\u5b69\u5b50\u5236\u5b9a\u91cf\u8eab\u5b9a\u5236\u7684\u652f\u63f4\u8ba1\u5212\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"426\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/4212020_s.jpg\" alt=\"\u5b88\u62a4\u5a74\u513f\u7684\u5973\u6027\" class=\"wp-image-87959\"\/><\/figure><\/div>\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>\u7531\u4e8e\u62a5\u544a\u75c5\u4f8b\u6570\u91cf\u6781\u5c11\uff0c\u96be\u4ee5\u65ad\u8a00\u957f\u671f\u9884\u540e\uff0c\u662f\u5426\u5408\u5e76\u5fc3\u810f\u75be\u75c5\u6216\u80be\u810f\u75be\u75c5\u88ab\u8ba4\u4e3a\u662f\u5f71\u54cd\u751f\u6d3b\u8d28\u91cf\u7684\u56e0\u7d20\u4e4b\u4e00\u3002<\/strong><\/p>\n\n\n\n<p>\u6709\u7684\u60a3\u8005\u4ec5\u8868\u73b0\u4e3a\u8f7b\u5ea6\u53d1\u80b2\u8fdf\u7f13\u548c\u751f\u957f\u7f13\u6162\uff0c\u4e5f\u6709\u60a3\u8005\u5408\u5e76\u5fc3\u810f\u6216\u80be\u810f\u5f02\u5e38\uff0c\u9700\u8981\u5728\u56f4\u4ea7\u671f\u53ca\u513f\u7ae5\u671f\u63a5\u53d7\u66f4\u4e3a\u8c28\u614e\u7684\u7ba1\u7406\u3002\u8fd9\u79cd\u5dee\u5f02\u88ab\u8ba4\u4e3a\u4e0e\u7f3a\u5931\u8303\u56f4\uff0c\u4ee5\u53ca\u9664FGFR2\u3001DOCK1\u4e4b\u5916\u8fd8\u5305\u542b\u54ea\u4e9b\u57fa\u56e0\u6709\u5173\u3002<\/p>\n\n\n\n<p>\u5728\u95e8\u8bca\u4e2d\uff0c\u6211\u672c\u4eba\u4e5f\u66fe\u88ab\u8fd9\u7c7b\u60a3\u6709\u7f55\u89c1\u67d3\u8272\u4f53\u75be\u75c5\u5b69\u5b50\u7684\u5bb6\u5c5e\u54a8\u8be2\u5173\u4e8e\u6210\u957f\u9884\u540e\u7684\u95ee\u9898\u3002\u7531\u4e8e\u5168\u7403\u8303\u56f4\u5185\u7684\u75c5\u4f8b\u79ef\u7d2f\u4ecd\u5728\u6301\u7eed\u8fdb\u884c\u4e2d\uff0c\u9700\u8981\u4e0e\u4e3b\u6cbb\u533b\u751f\u4e00\u8d77\u786e\u8ba4\u75c5\u60c5\u7ecf\u8fc7\uff0c\u4ece\u957f\u8fdc\u89d2\u5ea6\u9010\u6b65\u5efa\u7acb\u9884\u540e\u5c55\u671b\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/3q_13_31\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">3q13.31\u6b20\u5931\u75c7\u5019\u7fa4\u306b\u3064\u3044\u3066 <\/div>\n          <div class=\"blog-card-excerpt\">3q13.31\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u3001\u7b2c3\u67d3\u8272\u4f53\u306e\u9577\u8155\u306e\u4e00\u90e8\u304c\u6b20\u5931\u3059\u308b\u3053\u3068\u306b\u3088\u308b\u5e0c\u5c11\u75be\u60a3\u3067\u3001\u767a\u9054\u9045\u5ef6\u3084\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u3001\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u306a\u3069\u304c\u4e3b\u306a\u75c7\u72b6\u3067\u3059\u3002\u95a2\u9023...<\/div>\n      <\/div>\n    <\/a>\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%8F%B4%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\u63f4\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>\u7f55\u89c1\u75c5\u5e26\u6765\u7684\u5b64\u72ec\u611f\u5f80\u5f80\u8f83\u5927\uff0c\u4f46\u9057\u4f20\u54a8\u8be2\u3001\u60a3\u8005\u4e92\u52a9\u4f1a\u3001\u516c\u5171\u54a8\u8be2\u7a97\u53e3\u7b49\uff0c\u90fd\u662f\u53ef\u4ee5\u4f9d\u9760\u7684\u8d44\u6e90\u3002<\/strong><\/p>\n\n\n\n<p>\u5728\u8eab\u8fb9\u53ef\u80fd\u5f88\u96be\u627e\u5230\u60a3\u6709\u76f8\u540c\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\u63f4\uff0c\u90fd\u662f\u53ef\u4ee5\u5229\u7528\u7684\u8d44\u6e90\u3002\u533b\u7597\u65b9\u9762\u7684\u7ba1\u7406\u53ef\u4ee5\u4ea4\u7ed9\u533b\u751f\u548c\u5eb7\u590d\u4eba\u5458\uff0c\u800c\u5bb6\u4eba\u7684\u89d2\u8272\uff0c\u5c31\u662f\u548c\u5b69\u5b50\u4e00\u8d77\u4e3a\u773c\u524d\u7684\u6bcf\u4e00\u70b9\u5c0f\u5c0f\u6210\u957f\u800c\u6b23\u559c\u2014\u2014\u6211\u603b\u662f\u8fd9\u6837\u544a\u8bc9\u5bb6\u957f\u4eec\u3002<\/p>\n\n\n\n<p>\u5982\u679c\u60a8\u5173\u5fc3NIPT\u4e0e\u667a\u529b\u969c\u788d\u4e4b\u95f4\u7684\u5173\u7cfb\uff0c\u53ef\u4ee5\u53c2\u8003<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-beyond-down-syndrome-intellectual-disability\/?lang=zh-hans\">\u8fd9\u7bc7\u6587\u7ae0<\/a>\u3002\u5982\u679c\u60a8\u62c5\u5fc3\u5fae\u7f3a\u5931\u6574\u4f53\u7684\u98ce\u9669\uff0c\u4e5f\u53ef\u4ee5\u53c2\u8003<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\u98ce\u9669\u76f8\u5173\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\u60a8\u6b63\u5728\u8003\u8651\u4e3a\u4e0b\u4e00\u80ce\u8fdb\u884cNIPT\u68c0\u6d4b\uff0c\u65b9\u6848\u5bf9\u5fae\u7f3a\u5931\u7684\u68c0\u6d4b\u8303\u56f4\u4f1a\u5f71\u54cd\u9002\u5408\u60a8\u7684\u9009\u62e9\u3002\u5982\u679c\u4e0d\u6e05\u695a\u54ea\u79cd\u65b9\u6848\u9002\u5408\u81ea\u5df1\uff0c\u6b22\u8fce\u5c1d\u8bd5<strong><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/plan-finder\/?lang=en\">\u65b9\u6848\u8bca\u65ad<\/a><\/strong>\u5de5\u5177\u3002\u4e5f\u6b22\u8fce\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\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\" 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