{"id":84248,"date":"2024-11-15T15:58:15","date_gmt":"2024-11-15T06:58:15","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/17p12-duplication-syndrome\/"},"modified":"2026-07-12T21:24:03","modified_gmt":"2026-07-12T12:24:03","slug":"17p12-duplication-syndrome","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/17p12-duplication-syndrome\/?lang=zh-hans","title":{"rendered":"17p12 \u91cd\u590d\u7efc\u5408\u75c7"},"content":{"rendered":"\n<div style=\"border:solid #ffe6e6 0.8rem;background-color: #fff9f9;padding:3% 5%;margin:1rem 0 3rem;\">\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 .5-.1.7-.3.2-.2.3-.5.3-.7s-.1-.5-.3-.7zM5.8 14.7l6.2 6.3 6.2-6.3c.2-.2.3-.5.3-.7s-.1-.5-.3-.7c-.2-.2-.4-.3-.7-.3h-11c-.3 0-.5.1-.7.3-.2.2-.3.5-.3.7s.1.5.3.7z\"\/><\/svg><\/span><\/span><\/span><\/a><\/span><\/div>\n<nav><ul class='ez-toc-list ez-toc-list-level-1 ' ><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-1\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/17p12-duplication-syndrome\/?lang=zh-hans\/#%E6%9C%AC%E6%96%87%E6%91%98%E8%A6%81\" >\u672c\u6587\u6458\u8981<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/17p12-duplication-syndrome\/?lang=zh-hans\/#%E6%9C%AC%E6%96%87%E5%86%85%E5%AE%B9%E4%B8%80%E8%A7%88\" >\u672c\u6587\u5185\u5bb9\u4e00\u89c8<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/17p12-duplication-syndrome\/?lang=zh-hans\/#%E5%89%8D%E8%A8%80%EF%BC%9A%E4%B8%BA%E4%BB%80%E4%B9%88%E4%BC%9A%E5%87%BA%E7%8E%B0%E5%A4%9A%E4%B8%AA%E7%9B%B8%E4%BC%BC%E7%9A%84%E7%97%85%E5%90%8D\" >\u524d\u8a00\uff1a\u4e3a\u4ec0\u4e48\u4f1a\u51fa\u73b0\u591a\u4e2a\u76f8\u4f3c\u7684\u75c5\u540d<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/17p12-duplication-syndrome\/?lang=zh-hans\/#1_%E7%97%85%E5%9B%A0%EF%BC%9APMP22%E5%9F%BA%E5%9B%A0%E4%B8%8E%E9%87%8D%E5%A4%8D%E7%9A%84%E5%BD%A2%E6%88%90%E6%9C%BA%E5%88%B6\" >1. \u75c5\u56e0\uff1aPMP22\u57fa\u56e0\u4e0e\u91cd\u590d\u7684\u5f62\u6210\u673a\u5236<\/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\/17p12-duplication-syndrome\/?lang=zh-hans\/#PMP22%E5%9F%BA%E5%9B%A0%E4%B8%8E%E5%91%A8%E5%9B%B4%E7%A5%9E%E7%BB%8F%E9%AB%93%E9%9E%98\" >PMP22\u57fa\u56e0\u4e0e\u5468\u56f4\u795e\u7ecf\u9ad3\u9798<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/17p12-duplication-syndrome\/?lang=zh-hans\/#%E9%87%8D%E5%A4%8D%E4%B8%BA%E4%BD%95%E4%BC%9A%E5%8F%91%E7%94%9F\" >\u91cd\u590d\u4e3a\u4f55\u4f1a\u53d1\u751f<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/17p12-duplication-syndrome\/?lang=zh-hans\/#2_CMT1A%EF%BC%88%E9%87%8D%E5%A4%8D%EF%BC%89%E4%B8%8EHNPP%EF%BC%88%E7%BC%BA%E5%A4%B1%EF%BC%89%E4%BB%A5%E5%8F%8A%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\" >2. CMT1A\uff08\u91cd\u590d\uff09\u4e0eHNPP\uff08\u7f3a\u5931\uff09\u4ee5\u53ca\u540d\u79f0\u76f8\u4f3c\u75be\u75c5\u7684\u533a\u522b<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/17p12-duplication-syndrome\/?lang=zh-hans\/#3_%E4%B8%BB%E8%A6%81%E7%97%87%E7%8A%B6%EF%BC%9A%E7%BC%93%E6%85%A2%E8%BF%9B%E5%B1%95%E5%9E%8B%E5%91%A8%E5%9B%B4%E7%A5%9E%E7%BB%8F%E7%97%85%E5%8F%98\" >3. \u4e3b\u8981\u75c7\u72b6\uff1a\u7f13\u6162\u8fdb\u5c55\u578b\u5468\u56f4\u795e\u7ecf\u75c5\u53d8<\/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\/17p12-duplication-syndrome\/?lang=zh-hans\/#%E5%85%B8%E5%9E%8B%E7%97%87%E7%8A%B6\" >\u5178\u578b\u75c7\u72b6<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-10\" 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ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-27\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/17p12-duplication-syndrome\/?lang=zh-hans\/#%E5%AD%95%E6%9C%9FNIPT%E6%A3%80%E6%B5%8B%E8%83%BD%E6%9F%A5%E5%87%BA%E8%BF%99%E7%A7%8D%E7%96%BE%E7%97%85%E5%90%97%EF%BC%9F\" >\u5b55\u671fNIPT\u68c0\u6d4b\u80fd\u67e5\u51fa\u8fd9\u79cd\u75be\u75c5\u5417\uff1f<\/a><\/li><\/ul><\/li><\/ul><\/nav><\/div>\n<h2 style=\"margin-top:1rem;\"><span class=\"ez-toc-section\" id=\"%E6%9C%AC%E6%96%87%E6%91%98%E8%A6%81\"><\/span>\u672c\u6587\u6458\u8981<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p><strong>\u4f4d\u4e8e17p12\u533a\u57df\u7684PMP22\u57fa\u56e0\u5982\u679c\u591a\u51fa1\u4e2a\u62f7\u8d1d\uff08\u91cd\u590d\uff09\uff0c\u5c31\u4f1a\u5bfc\u81f4\u8153\u9aa8\u808c\u840e\u7f29\u75c71A\u578b\uff08CMT1A\uff09\u3002<\/strong>\u8fd9\u662fCMT\u4e2d\u6700\u5e38\u89c1\u7684\u7c7b\u578b\uff0c\u7ea6\u5360\u5168\u90e8CMT\u75c5\u4f8b\u768440%~50%\u3002\u82e5\u540c\u4e0017p12\u533a\u57df\u7684\u57fa\u56e0\u53d1\u751f&#8221;\u7f3a\u5931&#8221;\uff0c\u5219\u4f1a\u5bfc\u81f4\u53e6\u4e00\u79cd\u75be\u75c5\u2014\u2014\u9057\u4f20\u6027\u538b\u529b\u6613\u611f\u6027\u5468\u56f4\u795e\u7ecf\u75c5\uff08HNPP\uff09\u3002\u91cd\u590d\u4e0e\u7f3a\u5931\u662f\u65b9\u5411\u5b8c\u5168\u76f8\u53cd\u7684\u57fa\u56e0\u53d8\u5316\uff0c\u75c5\u7a0b\u4e5f\u5b8c\u5168\u4e0d\u540c\u3002CMT1A\u662f\u4e00\u79cd\u7f13\u6162\u8fdb\u5c55\u7684\u5468\u56f4\u795e\u7ecf\u75c5\u53d8\uff0c\u8868\u73b0\u4e3a\u53cc\u811a\u3001\u53cc\u624b\u529b\u91cf\u9010\u6e10\u4e0b\u964d\u3002\u75c5\u60c5\u8fdb\u5c55\u7f13\u6162\uff0c\u901a\u5e38\u4e0d\u4f1a\u5f71\u54cd\u5bff\u547d\u3002\u672c\u6587\u5c06\u8bf4\u660e\u91cd\u590d\uff08CMT1A\uff09\u4e0e\u7f3a\u5931\uff08HNPP\uff09\u7684\u533a\u522b\u3001\u75c5\u56e0\u3001\u75c7\u72b6\u3001\u8bca\u65ad\u65b9\u6cd5\u4ee5\u53ca\u65e5\u5e38\u751f\u6d3b\u4e2d\u7684\u6ce8\u610f\u4e8b\u9879\uff0c\u5e76\u6839\u636e\u516c\u5171\u673a\u6784\u4e0e\u5b66\u4f1a\u53d1\u5e03\u7684\u4fe1\u606f\uff0c\u6574\u7406\u8be5\u75be\u75c5\u4e0e\u5b55\u671fNIPT\u68c0\u6d4b\u4e4b\u95f4\u7684\u5173\u7cfb\u3002<\/p><\/div>\n\n\n\n<div style=\"border:solid #e6f0ff 0.6rem;background-color:#f7fbff;padding:3% 5%;margin:1rem 0 3rem;\">\n<h2 style=\"margin-top:1rem;\"><span class=\"ez-toc-section\" id=\"%E6%9C%AC%E6%96%87%E5%86%85%E5%AE%B9%E4%B8%80%E8%A7%88\"><\/span>\u672c\u6587\u5185\u5bb9\u4e00\u89c8<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<ul>\n<li>\u4e3a\u4ec0\u4e48&#8221;17p12\u91cd\u590d&#8221;\u4e0e&#8221;\u8153\u9aa8\u808c\u840e\u7f29\u75c71A\u578b&#8221;\u8fd9\u4e24\u4e2a\u75c5\u540d\u4f1a\u540c\u65f6\u51fa\u73b0\uff0c\u4e8c\u8005\u7684\u51c6\u786e\u5173\u7cfb\u662f\u4ec0\u4e48<\/li>\n<li>\u91cd\u590d\uff08CMT1A\uff09\u3001\u7f3a\u5931\uff08HNPP\uff09\uff0c\u4ee5\u53ca\u5bb9\u6613\u6df7\u6dc6\u768417p11.2\u91cd\u590d\uff08Potocki-Lupski\u7efc\u5408\u5f81\uff09\u4e4b\u95f4\u7684\u533a\u522b<\/li>\n<li>\u7528\u4e8e\u8bca\u65ad\u7684\u68c0\u67e5\u65b9\u6cd5\uff0c\u4ee5\u53ca\u65e5\u5e38\u751f\u6d3b\u4e2d\u9700\u8981\u6ce8\u610f\u7684\u59ff\u52bf\u548c\u52a8\u4f5c\u8981\u70b9<\/li>\n<li>\u5b55\u671fNIPT\u68c0\u6d4b\u5bf9\u8be5\u75be\u75c5\u7684\u68c0\u51fa\u8303\u56f4\uff0c\u4ee5\u53ca\u4e0e\u786e\u8bca\u68c0\u67e5\u4e4b\u95f4\u7684\u5173\u7cfb<\/li>\n<\/ul>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%89%8D%E8%A8%80%EF%BC%9A%E4%B8%BA%E4%BB%80%E4%B9%88%E4%BC%9A%E5%87%BA%E7%8E%B0%E5%A4%9A%E4%B8%AA%E7%9B%B8%E4%BC%BC%E7%9A%84%E7%97%85%E5%90%8D\"><\/span><strong>\u524d\u8a00\uff1a\u4e3a\u4ec0\u4e48\u4f1a\u51fa\u73b0\u591a\u4e2a\u76f8\u4f3c\u7684\u75c5\u540d<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u5728\u4f53\u68c0\u6216\u57fa\u56e0\u68c0\u6d4b\u7ed3\u679c\u4e2d\uff0c\u6709\u65f6\u4f1a\u540c\u65f6\u51fa\u73b0&#8221;17p12\u91cd\u590d&#8221;&#8221;\u8153\u9aa8\u808c\u840e\u7f29\u75c71A\u578b&#8221;\u8fd9\u6837\u7684\u5b57\u773c\u3002\u770b\u5230\u591a\u4e2a\u540d\u79f0\u76f8\u4f3c\u7684\u75be\u75c5\uff0c\u96be\u514d\u4f1a\u611f\u5230\u56f0\u60d1\u3002\u5b9e\u9645\u4e0a\uff0c\u57fa\u56e0\u53d8\u5316\u7684\u65b9\u5411\u4e0d\u540c\uff0c\u6240\u5bfc\u81f4\u7684\u75be\u75c5\u4e5f\u5b8c\u5168\u4e0d\u540c\u3002<\/p>\n\n\n\n<p>17\u53f7\u67d3\u8272\u4f53\u77ed\u81c212\u533a\u57df\uff0817p12\uff09\u4e0a\u6709\u4e00\u4e2a\u540d\u4e3aPMP22\u7684\u57fa\u56e0\uff0c\u8d1f\u8d23\u6784\u6210\u5468\u56f4\u795e\u7ecf\u7684\u9ad3\u9798\uff08\u4fdd\u62a4\u6027\u5916\u819c\uff09\u3002\u5f53\u8be5\u533a\u57df\u53d1\u751f<strong>\u91cd\u590d<\/strong>\u65f6\uff0c\u5c31\u4f1a\u5bfc\u81f4\u8153\u9aa8\u808c\u840e\u7f29\u75c71A\u578b\uff08CMT1A\uff09\uff1b\u76f8\u53cd\uff0c\u5f53\u8be5\u533a\u57df\u53d1\u751f<strong>\u7f3a\u5931<\/strong>\u65f6\uff0c\u5219\u4f1a\u5bfc\u81f4\u53e6\u4e00\u79cd\u75be\u75c5\u2014\u2014\u9057\u4f20\u6027\u538b\u529b\u6613\u611f\u6027\u5468\u56f4\u795e\u7ecf\u75c5\uff08HNPP\uff09\u3002<\/p>\n\n\n\n<p>\u672c\u6587\u4e3b\u8981\u9762\u5411\u641c\u7d22&#8221;17p12\u91cd\u590d&#8221;\u800c\u6765\u7684\u8bfb\u8005\u3002\u6211\u4eec\u5c06\u9996\u5148\u91cd\u70b9\u8bf4\u660eCMT1A\uff0c\u518d\u5398\u6e05\u5b83\u4e0e\u5bb9\u6613\u6df7\u6dc6\u7684HNPP\u300117p11.2\u91cd\u590d\u4e4b\u95f4\u7684\u533a\u522b\uff0c\u8bf7\u6309\u987a\u5e8f\u9605\u8bfb\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E7%97%85%E5%9B%A0%EF%BC%9APMP22%E5%9F%BA%E5%9B%A0%E4%B8%8E%E9%87%8D%E5%A4%8D%E7%9A%84%E5%BD%A2%E6%88%90%E6%9C%BA%E5%88%B6\"><\/span><strong>1. \u75c5\u56e0\uff1aPMP22\u57fa\u56e0\u4e0e\u91cd\u590d\u7684\u5f62\u6210\u673a\u5236<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u9996\u5148\uff0c\u6211\u4eec\u4ece\u57fa\u56e0\u5c42\u9762\u6765\u4e86\u89e3\u8fd9\u79cd\u75be\u75c5\u4e3a\u4f55\u4f1a\u53d1\u751f\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"PMP22%E5%9F%BA%E5%9B%A0%E4%B8%8E%E5%91%A8%E5%9B%B4%E7%A5%9E%E7%BB%8F%E9%AB%93%E9%9E%98\"><\/span><strong>PMP22\u57fa\u56e0\u4e0e\u5468\u56f4\u795e\u7ecf\u9ad3\u9798<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>PMP22\uff08\u5468\u56f4\u9ad3\u9798\u86cb\u767d22\uff09\u662f\u8d1f\u8d23\u5408\u6210\u5468\u56f4\u795e\u7ecf\u9ad3\u9798\u4e3b\u8981\u6210\u5206\u7684\u57fa\u56e0\u3002\u6b63\u5e38\u60c5\u51b5\u4e0b\uff0c\u6bcf\u4e2a\u4eba\u90fd\u62e5\u67092\u4e2a\u62f7\u8d1d\uff08\u5206\u522b\u9057\u4f20\u81ea\u7236\u6bcd\u53cc\u65b9\uff09\u3002<\/p>\n\n\n\n<p>\u795e\u7ecf\u8981\u6b63\u5e38\u4f20\u5bfc\u4fe1\u53f7\uff0c\u901a\u5e38\u9700\u8981\u8fd92\u4e2a\u62f7\u8d1d\u540c\u65f6\u5b58\u5728\u5e76\u4fdd\u6301\u5e73\u8861\u3002\u5982\u679c\u591a\u51fa1\u4e2a\u62f7\u8d1d\u53d8\u4e3a3\u4e2a\uff0c\u6216\u53cd\u8fc7\u6765\u51cf\u5c11\u4e3a1\u4e2a\uff0c\u9ad3\u9798\u7684\u529f\u80fd\u5c31\u4f1a\u51fa\u73b0\u5f02\u5e38\u6ce2\u52a8\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%87%8D%E5%A4%8D%E4%B8%BA%E4%BD%95%E4%BC%9A%E5%8F%91%E7%94%9F\"><\/span><strong>\u91cd\u590d\u4e3a\u4f55\u4f1a\u53d1\u751f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>CMT1A\u7684\u7edd\u5927\u591a\u6570\u75c5\u4f8b\uff0c\u90fd\u662f\u5728\u7cbe\u5b50\u6216\u5375\u5b50\u5f62\u6210\u8fc7\u7a0b\uff08\u51cf\u6570\u5206\u88c2\uff09\u4e2d\u53d1\u751f&#8221;\u4e0d\u7b49\u4ea4\u6362&#8221;\u6240\u81f4\u300217p12\u533a\u57df\u5185\u7684\u91cd\u590d\u5e8f\u5217\u53d1\u751f\u4e0d\u5747\u7b49\u91cd\u7ec4\uff0c\u5bfc\u81f4\u5305\u542bPMP22\u57fa\u56e0\u5728\u5185\u7684\u7ea61.5Mb\u533a\u57df\u6574\u4f53\u91cd\u590d\u3002\u4ec5\u6709\u6781\u5c11\u6570\u75c5\u4f8b\u662f\u7531PMP22\u57fa\u56e0\u672c\u8eab\u7684\u70b9\u7a81\u53d8\u7b49\u4e0d\u6d89\u53ca\u91cd\u590d\u7684\u57fa\u56e0\u5f02\u5e38\u5f15\u8d77\u7684\u3002<\/p>\n\n\n\n<p>\u8fd9\u79cd\u4e0d\u7b49\u4ea4\u6362\u662f\u5728\u751f\u6b96\u7ec6\u80de\u5f62\u6210\u8fc7\u7a0b\u4e2d\u5076\u7136\u53d1\u751f\u7684\u73b0\u8c61\uff0c<strong>\u5b55\u671f\u7684\u751f\u6d3b\u4e60\u60ef\u6216\u884c\u4e3a\u4e0d\u4f1a\u6210\u4e3a\u8bf1\u56e0\u3002<\/strong>\u8bf7\u52a1\u5fc5\u4e86\u89e3\u8fd9\u4e00\u70b9\uff1a\u60a8\u5b8c\u5168\u4e0d\u9700\u8981\u4e3a\u6b64\u81ea\u8d23\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_CMT1A%EF%BC%88%E9%87%8D%E5%A4%8D%EF%BC%89%E4%B8%8EHNPP%EF%BC%88%E7%BC%BA%E5%A4%B1%EF%BC%89%E4%BB%A5%E5%8F%8A%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\"><\/span><strong>2. CMT1A\uff08\u91cd\u590d\uff09\u4e0eHNPP\uff08\u7f3a\u5931\uff09\u4ee5\u53ca\u540d\u79f0\u76f8\u4f3c\u75be\u75c5\u7684\u533a\u522b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u5c3d\u7ba1\u6d89\u53ca\u7684\u662f\u540c\u4e00\u4e2aPMP22\u57fa\u56e0\u3001\u540c\u4e00\u4e2a17p12\u533a\u57df\uff0c\u4f46\u91cd\u590d\u4e0e\u7f3a\u5931\u6240\u5f15\u8d77\u7684\u75c7\u72b6\u8868\u73b0\u5374\u5927\u4e0d\u76f8\u540c\u3002\u4e0b\u8868\u8fdb\u884c\u4e86\u6574\u7406\u3002<\/p>\n\n\n\n<figure class=\"wp-table-block\"><table><thead><tr><th>\u6bd4\u8f83\u9879\u76ee<\/th><th>CMT1A\uff0817p12\u91cd\u590d\uff09<\/th><th>HNPP\uff0817p12\u7f3a\u5931\uff09<\/th><\/tr><\/thead><tbody><tr><td>\u57fa\u56e0\u53d8\u5316<\/td><td>\u542bPMP22\u57fa\u56e0\u7684\u533a\u57df\u591a\u51fa1\u4e2a\u62f7\u8d1d<\/td><td>\u542bPMP22\u57fa\u56e0\u7684\u533a\u57df\u7f3a\u59311\u4e2a\u62f7\u8d1d<\/td><\/tr><tr><td>\u75c5\u7a0b\u7279\u70b9<\/td><td>\u53cc\u811a\u3001\u53cc\u624b\u529b\u91cf\u7f13\u6162\u4e0b\u964d\uff0c\u5448\u6162\u6027\u8fdb\u5c55\u578b<\/td><td>\u591a\u56e0\u53d7\u538b\u800c\u7a81\u7136\u53d1\u4f5c\uff0c\u5927\u591a\u53ef\u81ea\u884c\u6062\u590d\uff0c\u5448\u53d1\u4f5c\u578b<\/td><\/tr><tr><td>\u5178\u578b\u75c7\u72b6<\/td><td>\u9ad8\u5f13\u8db3\u3001\u5782\u8db3\uff0c\u8fdc\u7aef\u808c\u65e0\u529b\u4e0e\u808c\u840e\u7f29\uff0c\u611f\u89c9\u969c\u788d<\/td><td>\u8153\u795e\u7ecf\u9ebb\u75f9\u6240\u81f4\u5782\u8db3\u3001\u8155\u7ba1\u7efc\u5408\u5f81\u3001\u5c3a\u795e\u7ecf\u9ebb\u75f9<\/td><\/tr><tr><td>\u53d1\u75c5\u5e74\u9f84\u53c2\u8003<\/td><td>5\u5c81\u81f325\u5c81<\/td><td>10\u591a\u5c81\u81f320\u591a\u5c81<\/td><\/tr><tr><td>\u795e\u7ecf\u4f20\u5bfc\u68c0\u67e5\u7279\u70b9<\/td><td>\u65e0\u8bba\u53d7\u538b\u90e8\u4f4d\uff0c\u4f20\u5bfc\u901f\u5ea6\u6574\u4f53\u51cf\u6162<\/td><td>\u4ec5\u5728\u5bb9\u6613\u53d7\u538b\u7684\u90e8\u4f4d\u4f20\u5bfc\u901f\u5ea6\u51cf\u6162<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<p>\u7b80\u5355\u6765\u8bf4\uff0cCMT1A\u662f\u4e00\u79cd<strong>&#8220;\u7f13\u6162\u8fdb\u5c55&#8221;<\/strong>\u7684\u75be\u75c5\uff0c\u800cHNPP\u5219\u662f\u4e00\u79cd<strong>&#8220;\u5bb9\u6613\u56e0\u53d7\u538b\u800c\u53d1\u4f5c&#8221;<\/strong>\u7684\u75be\u75c5\u3002\u8bca\u65ad\u4e66\u6216\u7f51\u7edc\u4fe1\u606f\u4e2d\uff0c\u8fd9\u4e24\u8005\u6709\u65f6\u4f1a\u88ab\u6df7\u5728\u4e00\u8d77\u8bf4\u660e\uff0c\u8bf7\u52a1\u5fc5\u786e\u8ba4\u68c0\u6d4b\u62a5\u544a\u4e2d\u5199\u7684\u7a76\u7adf\u662f&#8221;\u91cd\u590d&#8221;\u8fd8\u662f&#8221;\u7f3a\u5931&#8221;\u3002<\/p>\n\n\n\n<p>\u6781\u5c11\u6570\u60c5\u51b5\u4e0b\uff0cPMP22\u533a\u57df\u5e76\u975e\u7b80\u5355\u7684\u91cd\u590d\u6216\u7f3a\u5931\uff0c\u800c\u662f\u589e\u52a0\u5230<strong>3\u4e2a\u62f7\u8d1d\uff0c\u79f0\u4e3a&#8221;\u4e09\u91cd\u590d&#8221;<\/strong>\u3002\u8fd9\u79cd\u60c5\u51b5\u901a\u5e38\u6bd4CMT1A\u75c7\u72b6\u66f4\u4e25\u91cd\uff0c\u5c5e\u4e8e\u53e6\u4e00\u79cd\u75be\u75c5\uff0c\u79f0\u4e3a<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/yuan-harel-lupski-syndrome-yuhal-17p12\/?lang=zh-hans\">Yuan-Harel-Lupski\u7efc\u5408\u5f81\uff08YUHAL\uff09<\/a>\u3002\u5173\u4e8e\u7f3a\u5931\u4e00\u4fa7\u7684\u8be6\u7ec6\u5185\u5bb9\uff0c\u4e5f\u8bf7\u53c2\u9605<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/17p12-deletion-syndrome-charcot-marie-tooth-disease-type-1a\/?lang=zh-hans\">17p12\u7f3a\u5931\u7efc\u5408\u5f81\u7684\u89e3\u8bf4\u6587\u7ae0<\/a>\u3002<\/p>\n\n\n\n<p>\u8fd8\u6709\u4e00\u79cd\u56e0\u540d\u79f0\u76f8\u4f3c\u800c\u5bb9\u6613\u6df7\u6dc6\u7684\u75be\u75c5\uff0c\u5c31\u662f\u7531<strong>17p11.2\u533a\u57df\u91cd\u590d<\/strong>\u6240\u5f15\u8d77\u7684Potocki-Lupski\u7efc\u5408\u5f81\u300217p12\u4e0e17p11.2\u867d\u7136\u540c\u6837\u4f4d\u4e8e17\u53f7\u67d3\u8272\u4f53\u77ed\u81c2\uff0c\u4f46\u6d89\u53ca\u7684\u662f<strong>\u4f4d\u4e8e\u4e0d\u540c\u4f4d\u7f6e\u7684\u53e6\u4e00\u7ec4\u57fa\u56e0<\/strong>\u3002Potocki-Lupski\u7efc\u5408\u5f81\u7684\u6838\u5fc3\u75c7\u72b6\u662f\u53d1\u80b2\u8fdf\u7f13\u3001\u667a\u529b\u969c\u788d\uff0c\u4ee5\u53ca\u4f34\u968f\u5b64\u72ec\u75c7\u8c31\u7cfb\u969c\u788d\u7684\u884c\u4e3a\u7279\u5f81\uff0c\u5176\u75c5\u7a0b\u4e0eCMT1A\u7684\u5468\u56f4\u795e\u7ecf\u75c7\u72b6\u6709\u5f88\u5927\u4e0d\u540c\u3002\u8be6\u60c5\u8bf7\u53c2\u9605\u4ee5\u4e0b\u6587\u7ae0\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/duplication-17p11-2-in-a-child-with-developmental-delay\/?lang=zh-hans\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u767a\u9054\u9045\u6ede\u306e\u3042\u308b\u5c0f\u5150\u306b\u304a\u3051\u308b\u91cd\u890717p11.2(\u30dd\u30c8\u30c3\u30ad\u30fb\u30eb\u30d7\u30b9\u30ad\u30fc\u75c7\u5019\u7fa4) <\/div>\n          <div class=\"blog-card-excerpt\">\u767a\u9054\u9045\u6ede\u3084\u30dd\u30c8\u30c3\u30ad\u30fb\u30eb\u30d7\u30b9\u30ad\u30fc\u75c7\u5019\u7fa4\u306e\u5b50\u3069\u3082\u305f\u3061\u306b\u304a\u3051\u308b17p11.2\u53cd\u5fa9\u306e\u5f71\u97ff\u306b\u95a2\u3059\u308b\u60c5\u5831\u3092\u63a2\u308a\u3001\u30d2\u30ed\u30fb\u30af\u30ea\u30cb\u30c3\u30af\u304c\u3069\u306e\u3088\u3046\u306b\u304a\u5f79\u306b\u7acb\u3066\u308b...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<p>\u6b64\u5916\uff0c17\u53f7\u67d3\u8272\u4f53\u7684\u53e6\u4e00\u5904\u3001\u9760\u8fd1\u672b\u7aef\u7684<strong>17p13.3\u533a\u57df\u91cd\u590d<\/strong>\u4e5f\u4f1a\u5bfc\u81f4\u4e00\u79cd\u75be\u75c5\u3002\u8be5\u75be\u75c5\u540c\u6837\u4ee5\u53d1\u80b2\u65b9\u9762\u7684\u5f71\u54cd\u4e3a\u4e3b\uff0c\u4e0e17p12\u91cd\u590d\uff08CMT1A\uff09\u662f\u4e0d\u540c\u7684\u75be\u75c5\u3002\u8bf7\u4e00\u5e76\u786e\u8ba4\u4e0b\u65b9\u6587\u7ae0\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/17p13-3-duplication\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">17p13.3 \u30c6\u30ed\u30e1\u30ea\u30c3\u30af\u91cd\u8907\u75c7\u5019\u7fa4 <\/div>\n          <div class=\"blog-card-excerpt\">17p13.3\u30c6\u30ed\u30e1\u30ea\u30c3\u30af\u91cd\u8907\u75c7\u5019\u7fa4\u306f\u767a\u9054\u9045\u5ef6\u3084\u77e5\u7684\u969c\u5bb3\u3092\u5f15\u304d\u8d77\u3053\u3059\u907a\u4f1d\u75be\u60a3\u3067\u3001\u65e9\u671f\u8a3a\u65ad\u3068\u9069\u5207\u306a\u652f\u63f4\u306b\u3088\u308a\u751f\u6d3b\u306e\u8cea\u306e\u5411\u4e0a\u304c\u671f\u5f85\u3067\u304d\u307e\u3059\u3002\u9577\u671f...<\/div>\n      <\/div>\n    <\/a>\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%9A%E7%BC%93%E6%85%A2%E8%BF%9B%E5%B1%95%E5%9E%8B%E5%91%A8%E5%9B%B4%E7%A5%9E%E7%BB%8F%E7%97%85%E5%8F%98\"><\/span><strong>3. \u4e3b\u8981\u75c7\u72b6\uff1a\u7f13\u6162\u8fdb\u5c55\u578b\u5468\u56f4\u795e\u7ecf\u75c5\u53d8<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>CMT1A\u6700\u5927\u7684\u7279\u70b9\u662f\uff0c\u75c7\u72b6\u4ece\u811a\u8dbe\u7b49\u8eab\u4f53\u672b\u7aef\u5f00\u59cb\u51fa\u73b0\uff0c\u5e76\u9010\u6e10\u5411\u5468\u56f4\u6269\u6563\u3002\u75c5\u60c5\u7a81\u7136\u6076\u5316\u7684\u60c5\u51b5\u8f83\u5c11\u89c1\uff0c\u591a\u6570\u4ee5\u6570\u5e74\u4e3a\u5355\u4f4d\u7f13\u6162\u8fdb\u5c55\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%85%B8%E5%9E%8B%E7%97%87%E7%8A%B6\"><\/span><strong>\u5178\u578b\u75c7\u72b6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u75c7\u72b6\u7684\u8868\u73b0\u65b9\u5f0f\u56e0\u4eba\u800c\u5f02\uff0c\u4f46\u4e5f\u5b58\u5728\u4e00\u4e9b\u5171\u540c\u7279\u5f81\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5782\u8db3\u4e0e\u9ad8\u5f13\u8db3<\/strong>\uff1a\u811a\u8e1d\u4e0d\u6613\u4e0a\u62ac\u7684\u5782\u8db3\uff0c\u4ee5\u53ca\u8db3\u5f13\u53d8\u9ad8\u7684\u9ad8\u5f13\u8db3\uff0c\u90fd\u662f\u5e38\u89c1\u8868\u73b0\u3002<\/li>\n\n\n\n<li><strong>\u8fdc\u7aef\u808c\u65e0\u529b<\/strong>\uff1a\u811a\u8e1d\u3001\u624b\u6307\u7b49\u9760\u8fd1\u8eab\u4f53\u672b\u7aef\u7684\u808c\u8089\uff0c\u529b\u91cf\u4f1a\u8f83\u65e9\u5f00\u59cb\u4e0b\u964d\u3002<\/li>\n\n\n\n<li><strong>\u808c\u840e\u7f29<\/strong>\uff1a\u5c0f\u817f\u53d8\u7ec6\uff0c\u5e38\u88ab\u5f62\u5bb9\u4e3a&#8221;\u5012\u9999\u69df\u74f6&#8221;\u5f62\u72b6\u7684\u817f\u90e8\uff0c\u662f\u8f83\u6709\u7279\u5f81\u6027\u7684\u8868\u73b0\u3002<\/li>\n\n\n\n<li><strong>\u611f\u89c9\u969c\u788d\u4e0e\u8171\u53cd\u5c04\u51cf\u5f31<\/strong>\uff1a\u632f\u52a8\u89c9\u3001\u4f4d\u7f6e\u89c9\u53ef\u80fd\u53d8\u5f97\u8fdf\u949d\uff0c\u8171\u53cd\u5c04\u4e5f\u53ef\u80fd\u51cf\u5f31\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u867d\u7136\u5e38\u88ab\u63cf\u8ff0\u4e3a&#8221;\u4e0d\u4f34\u75bc\u75db&#8221;\uff0c\u4f46\u5b9e\u9645\u4e0a\u4e5f\u6709\u60a3\u8005\u4f1a\u51fa\u73b0\u795e\u7ecf\u75c5\u7406\u6027\u75bc\u75db\u3002\u9ebb\u6728\u7684\u7a0b\u5ea6\u548c\u8fdb\u5c55\u901f\u5ea6\uff0c\u5373\u4fbf\u5728\u540c\u4e00\u5bb6\u65cf\u5185\u4e5f\u53ef\u80fd\u5b58\u5728\u8f83\u5927\u5dee\u5f02\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%8F%91%E7%97%85%E5%B9%B4%E9%BE%84%E4%B8%8E%E8%BF%9B%E5%B1%95%E9%80%9F%E5%BA%A6\"><\/span><strong>\u53d1\u75c5\u5e74\u9f84\u4e0e\u8fdb\u5c55\u901f\u5ea6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u636e\u62a5\u544a\uff0c\u6700\u521d\u75c7\u72b6\u591a\u57285\u5c81\u81f325\u5c81\u4e4b\u95f4\u51fa\u73b0\uff0c\u4f46\u4e5f\u6709\u60a3\u8005\u76f4\u523060\u5c81\u4ee5\u540e\u624d\u9996\u6b21\u5bdf\u89c9\u3002\u5373\u4fbf\u5728\u540c\u4e00\u5bb6\u65cf\u5185\uff0c\u75c7\u72b6\u7684\u4e25\u91cd\u7a0b\u5ea6\u4e5f\u53ef\u80fd\u5b58\u5728\u8f83\u5927\u4e2a\u4f53\u5dee\u5f02\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"480\" src=\"\/nipt\/wp-content\/uploads\/2024\/12\/22606380_s.jpg\" alt=\"\u6b63\u5728\u4e3a\u8fce\u63a5\u5b9d\u5b9d\u505a\u51c6\u5907\u7684\u592b\u59bb\" class=\"wp-image-84992\"\/><\/figure><\/div>\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E9%81%97%E4%BC%A0%E6%96%B9%E5%BC%8F%EF%BC%9A%E5%AF%B9%E4%B8%8B%E4%B8%80%E8%83%8E%E7%9A%84%E5%BD%B1%E5%93%8D\"><\/span><strong>4. \u9057\u4f20\u65b9\u5f0f\uff1a\u5bf9\u4e0b\u4e00\u80ce\u7684\u5f71\u54cd<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>CMT1A\u4e3a\u5e38\u67d3\u8272\u4f53\u663e\u6027\u9057\u4f20\u3002\u82e5\u7236\u6bcd\u4e00\u65b9\u643a\u5e26PMP22\u91cd\u590d\uff0c\u5219\u65e0\u8bba\u5b50\u5973\u6027\u522b\uff0c\u9057\u4f20\u7ed9\u4e0b\u4e00\u4ee3\u7684\u6982\u7387\u7ea6\u4e3a\u4e8c\u5206\u4e4b\u4e00\u3002<\/p>\n\n\n\n<p>\u4e0d\u8fc7\uff0c\u5373\u4f7f\u5bb6\u65cf\u4e2d\u672a\u53d1\u73b0\u6709\u76f8\u540c\u75c7\u72b6\u7684\u6210\u5458\uff0c\u4e5f\u53ef\u80fd\u662f\u65b0\u53d1\u7a81\u53d8\u5bfc\u81f4\u7684\u91cd\u590d\u3002\u662f\u5426\u4f1a\u771f\u6b63\u9057\u4f20\u3001\u9057\u4f20\u7684\u6982\u7387\u5982\u4f55\uff0c\u56e0\u6bcf\u4e2a\u5bb6\u65cf\u7684\u5177\u4f53\u60c5\u51b5\u800c\u5f02\u3002\u5173\u4e8e\u4e0b\u4e00\u80ce\u7684\u9057\u4f20\u6982\u7387\uff0c\u8bf7\u901a\u8fc7\u4e34\u5e8a\u9057\u4f20\u5b66\u4e13\u79d1\u533b\u751f\u6216\u8ba4\u8bc1\u9057\u4f20\u54a8\u8be2\u5e08\u63d0\u4f9b\u7684<a href=\"https:\/\/www.jshg.jp\/about\/license\/\" target=\"_blank\" rel=\"noopener\">\u9057\u4f20\u54a8\u8be2<\/a>\uff08\u65e5\u8bed\u8d44\u6e90\uff09\u9010\u4e00\u786e\u8ba4\u3002<\/p>\n\n\n\n<p>\u5728\u6211\u4e3a\u8bb8\u591a\u5bb6\u5ead\u63d0\u4f9bNIPT\u54a8\u8be2\u7684\u8fc7\u7a0b\u4e2d\uff0c\u7ecf\u5e38\u542c\u5230&#8221;\u8fd9\u662f\u9057\u4f20\u81ea\u7236\u6bcd\uff0c\u8fd8\u662f\u5076\u7136\u53d1\u751f\u7684&#8221;\u8fd9\u7c7b\u6700\u60f3\u4f18\u5148\u4e86\u89e3\u7684\u95ee\u9898\u3002\u6211\u4e2a\u4eba\u7684\u611f\u53d7\u662f\uff0c\u4e0d\u4ec5\u8981\u770b\u68c0\u6d4b\u7ed3\u679c\u672c\u8eab\uff0c\u7ed3\u5408\u5bb6\u65cf\u8c31\u7cfb\u4e00\u8d77\u786e\u8ba4\u540c\u6837\u91cd\u8981\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"5_%E8%AF%8A%E6%96%AD%E6%96%B9%E6%B3%95\"><\/span><strong>5. \u8bca\u65ad\u65b9\u6cd5<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>CMT1A\u7684\u8bca\u65ad\uff0c\u9700\u8981\u5728\u786e\u8ba4\u75c7\u72b6\u53d1\u5c55\u8fc7\u7a0b\u7684\u57fa\u7840\u4e0a\uff0c\u7ed3\u5408\u795e\u7ecf\u529f\u80fd\u68c0\u67e5\u4e0e\u57fa\u56e0\u68c0\u6d4b\u7efc\u5408\u5224\u65ad\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%A5%9E%E7%BB%8F%E4%BC%A0%E5%AF%BC%E6%A3%80%E6%9F%A5%E3%83%BB%E8%82%8C%E7%94%B5%E5%9B%BE%E6%A3%80%E6%9F%A5\"><\/span><strong>\u795e\u7ecf\u4f20\u5bfc\u68c0\u67e5\u30fb\u808c\u7535\u56fe\u68c0\u67e5<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u795e\u7ecf\u4f20\u5bfc\u68c0\u67e5\uff08NCS\uff09\u662f\u901a\u8fc7\u5bf9\u795e\u7ecf\u65bd\u52a0\u7535\u523a\u6fc0\uff0c\u6d4b\u91cf\u4fe1\u53f7\u4f20\u5bfc\u901f\u5ea6\u7684\u68c0\u67e5\u65b9\u6cd5\uff1b\u808c\u7535\u56fe\u68c0\u67e5\uff08EMG\uff09\u5219\u662f\u68c0\u67e5\u808c\u8089\u7684\u7535\u6d3b\u52a8\u3002CMT1A\u7684\u7279\u70b9\u662f\uff0c\u65e0\u8bba\u53d7\u538b\u90e8\u4f4d\u5728\u54ea\u91cc\uff0c\u795e\u7ecf\u4f20\u5bfc\u901f\u5ea6\u90fd\u4f1a\u6574\u4f53\u51cf\u6162\uff08\u591a\u6570\u4f4e\u4e8e38m\/s\uff09\u3002\u8fd9\u4e00\u70b9\u4e5f\u662f\u4e0e\u4ec5\u5728\u53d7\u538b\u90e8\u4f4d\u4f20\u5bfc\u901f\u5ea6\u4e0b\u964d\u7684HNPP\u8fdb\u884c\u9274\u522b\u7684\u91cd\u8981\u7ebf\u7d22\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%9F%BA%E5%9B%A0%E6%A3%80%E6%B5%8B\"><\/span><strong>\u57fa\u56e0\u68c0\u6d4b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u786e\u8bca\u9700\u8981\u4f9d\u9760\u68c0\u6d4bPMP22\u57fa\u56e0\u62f7\u8d1d\u6570\u7684\u57fa\u56e0\u68c0\u6d4b\u624b\u6bb5\uff0c\u5e38\u7528\u65b9\u6cd5\u5305\u62ecMLPA\u6cd5\u3001FISH\u6cd5\u4ee5\u53ca\u67d3\u8272\u4f53\u5fae\u9635\u5217\u5206\u6790\uff08CMA\uff09\u3002\u8fd9\u4e9b\u68c0\u6d4b\u53ef\u5224\u65ad\u57fa\u56e0\u62f7\u8d1d\u6570\u662f\u7ef4\u6301\u57281\u4e2a\u3001\u6b63\u5e38\u76842\u4e2a\uff0c\u8fd8\u662f\u6709\u6240\u589e\u52a0\uff08\u91cd\u590d\u6216\u4e09\u91cd\u590d\uff09\u3002<\/p>\n\n\n\n<p>\u7531\u4e8e\u4ec5\u51ed\u75c7\u72b6\u6709\u65f6\u96be\u4ee5\u5224\u65ad\u7a76\u7adf\u662f\u91cd\u590d\u8fd8\u662f\u7f3a\u5931\uff0c\u901a\u8fc7\u57fa\u56e0\u68c0\u6d4b\u52a0\u4ee5\u786e\u8bca\uff0c\u4e5f\u6709\u52a9\u4e8e\u5236\u5b9a\u540e\u7eed\u7684\u6cbb\u7597\u65b9\u6848\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"6_%E6%B2%BB%E7%96%97%E4%B8%8E%E6%97%A5%E5%B8%B8%E7%94%9F%E6%B4%BB%E4%B8%AD%E7%9A%84%E5%BA%94%E5%AF%B9%E6%96%B9%E6%B3%95\"><\/span><strong>6. \u6cbb\u7597\u4e0e\u65e5\u5e38\u751f\u6d3b\u4e2d\u7684\u5e94\u5bf9\u65b9\u6cd5<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u76ee\u524d\u5c1a\u65e0\u80fd\u591f\u4ece\u6839\u672c\u4e0a\u6cbb\u6108PMP22\u57fa\u56e0\u91cd\u590d\u672c\u8eab\u7684\u6cbb\u7597\u65b9\u6cd5\uff0c\u56e0\u6b64\u6cbb\u7597\u4ee5\u5bc6\u5207\u89c2\u5bdf\u75c5\u60c5\u8fdb\u5c55\u3001\u8fdb\u884c\u652f\u6301\u6027\u6cbb\u7597\u4e3a\u4e3b\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%BA%B7%E5%A4%8D%E8%AE%AD%E7%BB%83%E4%B8%8E%E7%9F%AB%E5%BD%A2%E5%99%A8%E5%85%B7\"><\/span><strong>\u5eb7\u590d\u8bad\u7ec3\u4e0e\u77eb\u5f62\u5668\u5177<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5982\u679c\u5782\u8db3\u6301\u7eed\u5b58\u5728\uff0c\u6709\u65f6\u4f1a\u4f7f\u7528\u8e1d\u8db3\u77eb\u5f62\u5668\uff08AFO\uff09\u6765\u8f85\u52a9\u6b65\u884c\u3002\u4e3a\u4e86\u7ef4\u6301\u808c\u529b\u548c\u5173\u8282\u67d4\u97e7\u6027\uff0c\u540c\u65f6\u914d\u5408\u8fdb\u884c\u7269\u7406\u6cbb\u7597\u3001\u4f5c\u4e1a\u6cbb\u7597\u7684\u60c5\u51b5\u4e5f\u5f88\u5e38\u89c1\u3002\u4ec5\u5728\u9aa8\u9abc\u53d8\u5f62\u4e25\u91cd\u3001\u5df2\u7ecf\u5f71\u54cd\u65e5\u5e38\u751f\u6d3b\u65f6\uff0c\u624d\u4f1a\u8003\u8651\u8fdb\u884c\u5916\u79d1\u77eb\u6b63\u624b\u672f\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%97%A5%E5%B8%B8%E7%94%9F%E6%B4%BB%E4%B8%AD%E7%9A%84%E6%B3%A8%E6%84%8F%E4%BA%8B%E9%A1%B9\"><\/span><strong>\u65e5\u5e38\u751f\u6d3b\u4e2d\u7684\u6ce8\u610f\u4e8b\u9879<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u867d\u7136\u6ca1\u6709\u80fd\u591f\u786e\u5207\u5ef6\u7f13\u75c5\u60c5\u8fdb\u5c55\u7684\u65b9\u6cd5\uff0c\u4f46\u901a\u8fc7\u65e5\u5e38\u751f\u6d3b\u4e2d\u7684\u4e00\u4e9b\u8c03\u6574\uff0c\u53ef\u4ee5\u964d\u4f4e\u8dcc\u5012\u7b49\u98ce\u9669\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u63d0\u524d\u4e86\u89e3\u53f0\u9636\u843d\u5dee\u3001\u5730\u9762\u6e7f\u6ed1\u7b49\u5bb9\u6613\u5bfc\u81f4\u8dcc\u5012\u7684\u73af\u5883\u56e0\u7d20\u3002<\/li>\n\n\n\n<li>\u9009\u62e9\u5408\u811a\u7684\u978b\u5b50\u6216\u77eb\u5f62\u5668\u5177\uff0c\u5e76\u5b9a\u671f\u5230\u9aa8\u79d1\u6216\u795e\u7ecf\u5185\u79d1\u590d\u67e5\u8eab\u4f53\u72b6\u51b5\u3002<\/li>\n\n\n\n<li>\u5bf9\u4e8e\u5bb9\u6613\u52a0\u91cd\u5468\u56f4\u795e\u7ecf\u8d1f\u62c5\u7684\u5177\u6709\u795e\u7ecf\u6bd2\u6027\u7684\u836f\u7269\uff0c\u8bf7\u63d0\u524d\u4e0e\u4e3b\u6cbb\u533b\u751f\u5546\u8bae\u3002<\/li>\n<\/ul>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"7_%E9%A2%84%E5%90%8E%EF%BC%9A%E9%95%BF%E6%9C%9F%E7%97%85%E7%A8%8B%E4%B8%8E%E6%94%AF%E6%8C%81\"><\/span><strong>7. \u9884\u540e\uff1a\u957f\u671f\u75c5\u7a0b\u4e0e\u652f\u6301<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>CMT1A\u867d\u5c5e\u8fdb\u5c55\u6027\u75be\u75c5\uff0c\u4f46\u8fdb\u5c55\u901f\u5ea6\u7f13\u6162\uff0c\u901a\u5e38\u4e0d\u4f1a\u7f29\u77ed\u5bff\u547d\u3002\u8bb8\u591a\u60a3\u8005\u5728\u501f\u52a9\u77eb\u5f62\u5668\u7b49\u652f\u6301\u624b\u6bb5\u7684\u540c\u65f6\uff0c\u4ecd\u80fd\u7ef4\u6301\u6b63\u5e38\u7684\u65e5\u5e38\u751f\u6d3b\u548c\u5de5\u4f5c\u3002<\/p>\n\n\n\n<p>\u53e6\u4e00\u65b9\u9762\uff0c\u968f\u7740\u5e74\u9f84\u589e\u957f\uff0c\u808c\u529b\u4e0b\u964d\u4e5f\u53ef\u80fd\u52a0\u91cd\uff0c\u90e8\u5206\u60a3\u8005\u5728\u751f\u6d3b\u4e2d\u4f1a\u9010\u6e10\u9700\u8981\u4ed6\u4eba\u534f\u52a9\u3002\u5b9a\u671f\u5230\u795e\u7ecf\u5185\u79d1\u590d\u8bca\u3001\u6301\u7eed\u89c2\u5bdf\u75c5\u60c5\u53d8\u5316\u5341\u5206\u91cd\u8981\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"8_%E4%B8%8E%E5%AD%95%E6%9C%9FNIPT%E6%A3%80%E6%B5%8B%E7%9A%84%E5%85%B3%E7%B3%BB\"><\/span><strong>8. \u4e0e\u5b55\u671fNIPT\u68c0\u6d4b\u7684\u5173\u7cfb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>NIPT\u6240\u68c0\u6d4b\u768421\u4e09\u4f53\u300118\u4e09\u4f53\u300113\u4e09\u4f53\u7b49<strong>\u57fa\u7840\u68c0\u6d4b\u9879\u76ee\uff0c\u5e76\u4e0d\u6db5\u76d617p12\u8fd9\u7c7b\u67d3\u8272\u4f53\u5fae\u5c0f\u91cd\u590d\u6216\u7f3a\u5931\u3002<\/strong>\u90e8\u5206\u68c0\u6d4b\u65b9\u6848\u4e2d\u63d0\u4f9b\u4e86\u5c06\u68c0\u6d4b\u8303\u56f4\u6269\u5c55\u81f3\u5fae\u7f3a\u5931\u3001\u5fae\u91cd\u590d\u7684\u9009\u914d\u9879\u76ee\uff0c\u4f46\u5177\u4f53\u6db5\u76d6\u7684\u75be\u75c5\u8303\u56f4\u56e0\u68c0\u6d4b\u673a\u6784\u548c\u65b9\u6848\u800c\u5f02\u3002<\/p>\n\n\n\n<p>\u60a8\u6240\u8003\u8651\u7684\u68c0\u6d4b\u65b9\u6848\u662f\u5426\u6db5\u76d617p12\u533a\u57df\uff0c<strong>\u8bf7\u76f4\u63a5\u5411\u68c0\u6d4b\u673a\u6784\u54a8\u8be2\u786e\u8ba4\u3002<\/strong>\u6b64\u5916\uff0c\u4e5f\u53ef\u53c2\u8003<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-202407001\/\">\u5173\u4e8eNIPT\u68c0\u6d4b\u5fae\u7f3a\u5931\u7efc\u5408\u5f81\u7684\u89e3\u8bf4\u6587\u7ae0<\/a>\uff0c\u4ee5\u53ca<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/microdeletion-syndrome\/?lang=zh-hans\">\u5fae\u7f3a\u5931\u30fb\u91cd\u590d\u75be\u75c5\u4e00\u89c8\u6587\u7ae0<\/a>\uff08\u4ee5\u4e0a\u5747\u4e3a\u65e5\u8bed\u8d44\u6e90\uff09\u3002<\/p>\n\n\n\n<p>\u8fd8\u6709\u4e00\u70b9\u9700\u8981\u4e86\u89e3\uff1a<strong>NIPT\u7ec8\u7a76\u53ea\u662f\u4e00\u79cd\u975e\u786e\u5b9a\u6027\u7684\u7b5b\u67e5\u68c0\u6d4b\u3002<\/strong>\u5982\u679c\u51fa\u73b0\u9633\u6027\u7ed3\u679c\uff0c\u9700\u8981\u901a\u8fc7\u7f8a\u6c34\u7a7f\u523a\u7b49\u65b9\u5f0f\u8fdb\u884c\u786e\u8bca\u68c0\u67e5\u3002\u5177\u4f53\u65b9\u6cd5\u662f\u5229\u7528\u91c7\u96c6\u5230\u7684\u6837\u672c\uff0c\u901a\u8fc7MLPA\u6cd5\u6216\u67d3\u8272\u4f53\u5fae\u9635\u5217\u5206\u6790\uff08CMA\uff09\u7b49\u6280\u672f\u68c0\u6d4bPMP22\u57fa\u56e0\u7684\u62f7\u8d1d\u6570\u3002\u8bf7\u6ce8\u610f\uff0c\u4ec5\u4f9d\u9760\u5e38\u89c4\u663e\u5fae\u955c\u67d3\u8272\u4f53\u68c0\u67e5\uff08G\u663e\u5e26\u6cd5\uff09\uff0c\u662f\u65e0\u6cd5\u53d1\u73b0\u8fd9\u4e00\u533a\u57df\u53d8\u5316\u7684\u3002<\/p>\n\n\n\n<p>\u5728\u64b0\u5199\u672c\u6587\u8fc7\u7a0b\u4e2d\uff0c\u6211\u4eec\u66fe\u5728X\uff08\u539fTwitter\uff09\u4e0a\u641c\u7d22\u56fd\u5185\u60a3\u8005\u5173\u4e8e\u8be5\u75be\u75c5\u7684\u4eb2\u8eab\u7ecf\u5386\u5206\u4eab\uff0c\u4f46\u672a\u627e\u5230\u8fd1\u671f\u76f8\u5173\u5e16\u5b50\u3002\u7531\u4e8e\u8fd9\u662f\u4e00\u79cd\u7f55\u89c1\u75be\u75c5\uff0c\u7f3a\u4e4f\u7b2c\u4e00\u624b\u8d44\u6599\u4fe1\u606f\u5c5e\u4e8e\u6b63\u5e38\u73b0\u8c61\u3002\u56e0\u6b64\uff0c\u672c\u6587\u6539\u4e3a\u53c2\u8003MGenReviews\u3001GeneReviews 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class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u770b\u5230&#8221;\u8153\u9aa8\u808c\u840e\u7f29\u75c71A\u578b&#8221;\u8fd9\u4e2a\u75c5\u540d\uff0c\u6216\u8bb8\u6709\u4eba\u4f1a\u62c5\u5fc3\u8fd9\u662f\u4e00\u79cd\u5f88\u4e25\u91cd\u7684\u75be\u75c5\u800c\u611f\u5230\u4e0d\u5b89\u3002\u4f46\u5b9e\u9645\u4e0a\uff0c\u8be5\u75c5\u8fdb\u5c55\u7f13\u6162\uff0c\u8bb8\u591a\u60a3\u8005\u4e00\u8fb9\u575a\u6301\u4f69\u6234\u77eb\u5f62\u5668\u3001\u8fdb\u884c\u5eb7\u590d\u8bad\u7ec3\uff0c\u4e00\u8fb9\u7ee7\u7eed\u6b63\u5e38\u5de5\u4f5c\u548c\u80b2\u513f\u3002<\/p>\n\n\n\n<p>\u957f\u671f\u7684\u95e8\u8bca\u590d\u67e5\u548c\u77eb\u5f62\u5668\u5177\u7ba1\u7406\uff0c\u6709\u65f6\u4e5f\u4f1a\u7ed9\u5bb6\u5ead\u5e26\u6765\u8f83\u5927\u8d1f\u62c5\u3002\u5efa\u8bae\u4e0e\u533b\u7597\u56e2\u961f\u53ca\u652f\u6301\u673a\u6784\u4fdd\u6301\u6c9f\u901a\u534f\u4f5c\uff0c\u5efa\u7acb\u4e00\u5957\u4e0d\u52c9\u5f3a\u3001\u53ef\u6301\u7eed\u7684\u5e94\u5bf9\u65b9\u5f0f\u3002<\/p>\n\n\n\n<p>\u5728\u9057\u4f20\u54a8\u8be2\u73b0\u573a\uff0c\u6211\u4eec\u7ecf\u5e38\u542c\u5230&#8221;\u4e0b\u4e00\u80ce\u662f\u5426\u4e5f\u4f1a\u9057\u4f20&#8221;\u8fd9\u6837\u7684\u54a8\u8be2\u3002\u591a\u6570\u60c5\u51b5\u4e0b\uff0c\u901a\u8fc7\u51c6\u786e\u7684\u68c0\u6d4b\u7ed3\u679c\u7ed3\u5408\u5bb6\u65cf\u8c31\u7cfb\u7684\u786e\u8ba4\uff0c\u53ef\u4ee5\u8ba9\u672a\u6765\u7684\u60c5\u51b5\u53d8\u5f97\u66f4\u5bb9\u6613\u9884\u5224\u3002\u8bf7\u4e0d\u8981\u72ec\u81ea\u627f\u62c5\u538b\u529b\uff0c\u6b22\u8fce\u968f\u65f6\u5411\u4e13\u4e1a\u4eba\u58eb\u54a8\u8be2\u3002<\/p>\n\n\n\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\">\u70b9\u51fb\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\/line-registration\/?lang=zh-hans\" target=\"_blank\" rel=\"noopener\">\u901a\u8fc7LINE\u514d\u8d39\u54a8\u8be2<\/a><\/div>\n<\/div>\n\n\n\n<p>\u6211\u4eec\u4e5f\u63a5\u53d7\u7535\u8bdd\u54a8\u8be2\u3002\u6b22\u8fce\u62e8\u6253<a href=\"tel:0120169629\">0120-169-629<\/a>\uff08\u65e5\u672c\u5883\u5185\u53f7\u7801\uff09\u4e0e\u6211\u4eec\u8054\u7cfb\u3002<\/p>\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=\"17p12%E9%87%8D%E5%A4%8D%E7%BB%BC%E5%90%88%E5%BE%81%E4%B8%8E%E8%85%93%E9%AA%A8%E8%82%8C%E8%90%8E%E7%BC%A9%E7%97%871A%E5%9E%8B%EF%BC%88CMT1A%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>17p12\u91cd\u590d\u7efc\u5408\u5f81\u4e0e\u8153\u9aa8\u808c\u840e\u7f29\u75c71A\u578b\uff08CMT1A\uff09\u662f\u540c\u4e00\u79cd\u75be\u75c5\u5417\uff1f<span 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