{"id":84254,"date":"2024-11-15T15:57:49","date_gmt":"2024-11-15T06:57:49","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/17p12-deletion-syndrome-charcot-marie-tooth-disease-type-1a\/"},"modified":"2026-07-12T21:17:45","modified_gmt":"2026-07-12T12:17:45","slug":"17p12-deletion-syndrome-charcot-marie-tooth-disease-type-1a","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/17p12-deletion-syndrome-charcot-marie-tooth-disease-type-1a\/?lang=zh-hans","title":{"rendered":"17p12 \u7f3a\u5931\u7efc\u5408\u5f81\uff08\u8153\u9aa8\u808c\u840e\u7f29\u75c7 1A \u578b\uff09"},"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-deletion-syndrome-charcot-marie-tooth-disease-type-1a\/?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-deletion-syndrome-charcot-marie-tooth-disease-type-1a\/?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-deletion-syndrome-charcot-marie-tooth-disease-type-1a\/?lang=zh-hans\/#%E5%89%8D%E8%A8%80%EF%BC%9A%E4%B8%BA%E4%BD%95%E4%B8%A4%E4%B8%AA%E7%97%85%E5%90%8D%E4%BC%9A%E5%90%8C%E6%97%B6%E5%87%BA%E7%8E%B0\" >\u524d\u8a00\uff1a\u4e3a\u4f55\u4e24\u4e2a\u75c5\u540d\u4f1a\u540c\u65f6\u51fa\u73b0<\/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-deletion-syndrome-charcot-marie-tooth-disease-type-1a\/?lang=zh-hans\/#1_%E7%97%85%E5%9B%A0%EF%BC%9APMP22%E5%9F%BA%E5%9B%A0%E4%B8%8E%E7%BC%BA%E5%A4%B1%E7%9A%84%E5%BD%A2%E6%88%90%E6%9C%BA%E5%88%B6\" >1. \u75c5\u56e0\uff1aPMP22\u57fa\u56e0\u4e0e\u7f3a\u5931\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-deletion-syndrome-charcot-marie-tooth-disease-type-1a\/?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-deletion-syndrome-charcot-marie-tooth-disease-type-1a\/?lang=zh-hans\/#%E7%BC%BA%E5%A4%B1%E4%B8%BA%E4%BD%95%E4%BC%9A%E5%8F%91%E7%94%9F\" >\u7f3a\u5931\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-deletion-syndrome-charcot-marie-tooth-disease-type-1a\/?lang=zh-hans\/#2_HNPP%EF%BC%88%E7%BC%BA%E5%A4%B1%E5%9E%8B%EF%BC%89%E4%B8%8ECMT1A%EF%BC%88%E9%87%8D%E5%A4%8D%E5%9E%8B%EF%BC%89%E7%9A%84%E5%8C%BA%E5%88%AB\" >2. 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/17p12-deletion-syndrome-charcot-marie-tooth-disease-type-1a\/?lang=zh-hans\/#%E8%BF%99%E7%A7%8D%E7%96%BE%E7%97%85%E4%BC%9A%E9%81%97%E4%BC%A0%E7%BB%99%E5%AD%A9%E5%AD%90%E5%90%97%EF%BC%9F\" >\u8fd9\u79cd\u75be\u75c5\u4f1a\u9057\u4f20\u7ed9\u5b69\u5b50\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\/17p12-deletion-syndrome-charcot-marie-tooth-disease-type-1a\/?lang=zh-hans\/#%E5%AD%95%E6%9C%9FNIPT%E6%A3%80%E6%B5%8B%E8%83%BD%E5%8F%91%E7%8E%B0%E8%BF%99%E7%A7%8D%E7%96%BE%E7%97%85%E5%90%97%EF%BC%9F\" >\u5b55\u671fNIPT\u68c0\u6d4b\u80fd\u53d1\u73b0\u8fd9\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-26\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/17p12-deletion-syndrome-charcot-marie-tooth-disease-type-1a\/?lang=zh-hans\/#%E9%80%9A%E8%BF%87%E5%93%AA%E4%BA%9B%E6%A3%80%E6%9F%A5%E5%8F%AF%E4%BB%A5%E7%A1%AE%E8%AF%8A%EF%BC%9F\" >\u901a\u8fc7\u54ea\u4e9b\u68c0\u67e5\u53ef\u4ee5\u786e\u8bca\uff1f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-27\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/17p12-deletion-syndrome-charcot-marie-tooth-disease-type-1a\/?lang=zh-hans\/#%E8%85%93%E9%AA%A8%E8%82%8C%E8%90%8E%E7%BC%A9%E7%97%87%E5%B1%9E%E4%BA%8E%E6%97%A5%E6%9C%AC%E7%9A%84%E6%8C%87%E5%AE%9A%E9%9A%BE%E7%97%85%E5%90%97%EF%BC%9F\" >\u8153\u9aa8\u808c\u840e\u7f29\u75c7\u5c5e\u4e8e\u65e5\u672c\u7684\u6307\u5b9a\u96be\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\u7f3a\u5931\u4e00\u4e2a\u62f7\u8d1d\uff0c\u4f1a\u5f15\u53d1\u4e00\u79cd\u9057\u4f20\u6027\u5468\u56f4\u795e\u7ecf\u75be\u75c5\u3002<\/strong>\u5176\u6b63\u5f0f\u540d\u79f0\u4e3a\u9057\u4f20\u6027\u538b\u529b\u6613\u611f\u6027\u5468\u56f4\u795e\u7ecf\u75c5\uff08HNPP\uff09\u3002\u82e5\u540c\u4e0017p12\u533a\u57df\u7684\u57fa\u56e0\u53d1\u751f&#8221;\u91cd\u590d&#8221;\uff0c\u5219\u4f1a\u5f15\u53d1\u53e6\u4e00\u79cd\u75be\u75c5\u2014\u2014\u8153\u9aa8\u808c\u840e\u7f29\u75c71A\u578b\uff08CMT1A\uff09\u3002\u7f3a\u5931\u4e0e\u91cd\u590d\u662f\u65b9\u5411\u5b8c\u5168\u76f8\u53cd\u7684\u57fa\u56e0\u53d8\u5316\uff0c\u75c7\u72b6\u8868\u73b0\u4e5f\u4e0d\u540c\u3002HNPP\u662f\u4e00\u79cd\u56e0\u53d7\u538b\u800c\u8bf1\u53d1\u7684\u53d1\u4f5c\u6027\u795e\u7ecf\u969c\u788d\uff0c\u60a3\u8005\u53ef\u80fd\u51fa\u73b0\u624b\u811a\u9ebb\u6728\u6216\u6d3b\u52a8\u53d7\u9650\uff0c\u591a\u6570\u75c5\u60c5\u4e3a\u8f7b\u5ea6\u81f3\u4e2d\u5ea6\u3002\u672c\u6587\u5c06\u8bf4\u660e\u7f3a\u5931\u578b\uff08HNPP\uff09\u4e0e\u91cd\u590d\u578b\uff08CMT1A\uff09\u7684\u533a\u522b\u3001\u75c5\u56e0\u3001\u75c7\u72b6\u3001\u8bca\u65ad\u65b9\u6cd5\u53ca\u65e5\u5e38\u751f\u6d3b\u6ce8\u610f\u4e8b\u9879\uff0c\u5e76\u6839\u636e\u516c\u5171\u673a\u6784\u4e0e\u5b66\u4f1a\u7684\u8d44\u6599\uff0c\u68b3\u7406\u8be5\u75be\u75c5\u4e0e\u5b55\u671fNIPT\u68c0\u6d4b\u7684\u5173\u7cfb\u3002\n<\/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\u4f55&#8221;17p12\u7f3a\u5931&#8221;\u4e0e&#8221;\u8153\u9aa8\u808c\u840e\u7f29\u75c71A\u578b&#8221;\u4e24\u4e2a\u75c5\u540d\u4f1a\u540c\u65f6\u51fa\u73b0\uff0c\u4e24\u8005\u4e4b\u95f4\u7684\u51c6\u786e\u5173\u7cfb<\/li>\n<li>\u7f3a\u5931\u578b\uff08HNPP\uff09\u4e0e\u91cd\u590d\u578b\uff08CMT1A\uff09\u5728\u75c7\u72b6\u8868\u73b0\u4e0a\u7684\u5dee\u5f02<\/li>\n<li>\u7528\u4e8e\u8bca\u65ad\u7684\u68c0\u67e5\u65b9\u6cd5\uff0c\u4ee5\u53ca\u65e5\u5e38\u751f\u6d3b\u4e2d\u907f\u514d\u53d7\u538b\u7684\u8981\u70b9<\/li>\n<li>\u5b55\u671fNIPT\u68c0\u6d4b\u80fd\u5728\u591a\u5927\u7a0b\u5ea6\u4e0a\u53d1\u73b0\u8be5\u75be\u75c5\uff0c\u4ee5\u53ca\u4e0e\u786e\u8bca\u68c0\u6d4b\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%BD%95%E4%B8%A4%E4%B8%AA%E7%97%85%E5%90%8D%E4%BC%9A%E5%90%8C%E6%97%B6%E5%87%BA%E7%8E%B0\"><\/span><strong>\u524d\u8a00\uff1a\u4e3a\u4f55\u4e24\u4e2a\u75c5\u540d\u4f1a\u540c\u65f6\u51fa\u73b0<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u5728\u4f53\u68c0\u6216\u57fa\u56e0\u68c0\u6d4b\u62a5\u544a\u4e2d\uff0c\u6709\u65f6\u4f1a\u540c\u65f6\u51fa\u73b0&#8221;17p12\u7f3a\u5931&#8221;\u4e0e&#8221;\u8153\u9aa8\u808c\u840e\u7f29\u75c71A\u578b&#8221;\u8fd9\u4e24\u4e2a\u8bcd\u3002\u9762\u5bf9\u964c\u751f\u7684\u672f\u8bed\uff0c\u4e0d\u5c11\u4eba\u4f1a\u611f\u5230\u56f0\u60d1\u3002\u5b9e\u9645\u4e0a\uff0c\u8fd9\u662f\u4e24\u79cd\u4e0d\u540c\u7684\u75be\u75c5\uff0c\u867d\u7136\u6d89\u53ca\u540c\u4e00\u57fa\u56e0\u533a\u57df\uff0c\u4f46\u57fa\u56e0\u53d8\u5316\u7684\u65b9\u5411\u6b63\u597d\u76f8\u53cd\u3002<\/p>\n\n\n\n<p>17\u53f7\u67d3\u8272\u4f53\u77ed\u81c212\u533a\u57df\uff0817p12\uff09\u4e0a\u5b58\u5728PMP22\u57fa\u56e0\uff0c\u8d1f\u8d23\u6784\u6210\u5468\u56f4\u795e\u7ecf\u9ad3\u9798\uff08\u795e\u7ecf\u5916\u5c42\u7684\u4fdd\u62a4\u819c\uff09\u7684\u4e3b\u8981\u6210\u5206\u3002\u5f53\u8be5\u533a\u57df<strong>\u7f3a\u5931<\/strong>\u65f6\uff0c\u4f1a\u5f15\u53d1\u9057\u4f20\u6027\u538b\u529b\u6613\u611f\u6027\u5468\u56f4\u795e\u7ecf\u75c5\uff08HNPP\uff09\uff1b\u800c\u5f53\u8be5\u533a\u57df<strong>\u91cd\u590d<\/strong>\u65f6\uff0c\u5219\u4f1a\u5f15\u53d1\u8153\u9aa8\u808c\u840e\u7f29\u75c71A\u578b\uff08CMT1A\uff09\u3002<\/p>\n\n\n\n<p>\u672c\u6587\u4e3b\u8981\u9762\u5411\u901a\u8fc7&#8221;17p12\u7f3a\u5931&#8221;\u641c\u7d22\u800c\u6765\u7684\u8bfb\u8005\uff0c\u56e0\u6b64\u5c06\u4ee5\u7f3a\u5931\u578b\u75be\u75c5HNPP\u4e3a\u6838\u5fc3\u8fdb\u884c\u8bf4\u660e\uff0c\u5e76\u5398\u6e05\u5b83\u4e0e\u5bb9\u6613\u6df7\u6dc6\u7684CMT1A\u4e4b\u95f4\u7684\u533a\u522b\u3002\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%E7%BC%BA%E5%A4%B1%E7%9A%84%E5%BD%A2%E6%88%90%E6%9C%BA%E5%88%B6\"><\/span><strong>1. \u75c5\u56e0\uff1aPMP22\u57fa\u56e0\u4e0e\u7f3a\u5931\u7684\u5f62\u6210\u673a\u5236<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u9996\u5148\uff0c\u8ba9\u6211\u4eec\u4ece\u57fa\u56e0\u5c42\u9762\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\u5916\u5468\u9ad3\u78f7\u8102\u86cb\u767d22\uff09\u662f\u8d1f\u8d23\u5408\u6210\u5468\u56f4\u795e\u7ecf\u9ad3\u9798\u4e3b\u8981\u6210\u5206\u7684\u57fa\u56e0\u3002\u901a\u5e38\u60c5\u51b5\u4e0b\uff0c\u4eba\u4f53\u62e5\u67092\u4e2a\u62f7\u8d1d\u7684\u8be5\u57fa\u56e0\uff0c\u5206\u522b\u9057\u4f20\u81ea\u7236\u6bcd\u53cc\u65b9\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\u3002\u82e5\u5176\u4e2d1\u4e2a\u62f7\u8d1d\u7f3a\u5931\uff0c\u6216\u53cd\u4e4b\u589e\u52a0\u4e3a3\u4e2a\u62f7\u8d1d\uff0c\u90fd\u4f1a\u5bfc\u81f4\u9ad3\u9798\u529f\u80fd\u51fa\u73b0\u6ce2\u52a8\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%BC%BA%E5%A4%B1%E4%B8%BA%E4%BD%95%E4%BC%9A%E5%8F%91%E7%94%9F\"><\/span><strong>\u7f3a\u5931\u4e3a\u4f55\u4f1a\u53d1\u751f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u7ea680%\u7684HNPP\u75c5\u4f8b\u6e90\u4e8e\u7cbe\u5b50\u6216\u5375\u5b50\u5f62\u6210\u8fc7\u7a0b\uff08\u51cf\u6570\u5206\u88c2\uff09\u4e2d\u53d1\u751f\u7684&#8221;\u4e0d\u7b49\u4ea4\u6362&#8221;\uff1a17p12\u533a\u57df\u5185\u7684\u91cd\u590d\u5e8f\u5217\u53d1\u751f\u4e0d\u5747\u7b49\u91cd\u7ec4\uff0c\u5bfc\u81f4\u5305\u542bPMP22\u57fa\u56e0\u5728\u5185\u7ea61.5Mb\u7684\u533a\u57df\u6574\u4f53\u7f3a\u5931\u3002\u5176\u4f59\u7ea620%\u7684\u75c5\u4f8b\u5219\u7531\u4e0d\u4f34\u968f\u7f3a\u5931\u7684\u5176\u4ed6\u57fa\u56e0\u5f02\u5e38\u5f15\u8d77\uff0c\u4f8b\u5982PMP22\u57fa\u56e0\u672c\u8eab\u7684\u70b9\u7a81\u53d8\u3002<\/p>\n\n\n\n<p>\u8fd9\u79cd\u4e0d\u7b49\u4ea4\u6362\u662f\u751f\u6b96\u7ec6\u80de\u5f62\u6210\u8fc7\u7a0b\u4e2d\u5076\u7136\u53d1\u751f\u7684\u73b0\u8c61\uff0c<strong>\u4e0e\u5b55\u671f\u7684\u751f\u6d3b\u4e60\u60ef\u6216\u884c\u4e3a\u5b8c\u5168\u65e0\u5173\u3002<\/strong>\u8bf7\u9996\u5148\u4e86\u89e3\uff0c\u5b8c\u5168\u6ca1\u6709\u5fc5\u8981\u81ea\u8d23\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_HNPP%EF%BC%88%E7%BC%BA%E5%A4%B1%E5%9E%8B%EF%BC%89%E4%B8%8ECMT1A%EF%BC%88%E9%87%8D%E5%A4%8D%E5%9E%8B%EF%BC%89%E7%9A%84%E5%8C%BA%E5%88%AB\"><\/span><strong>2. HNPP\uff08\u7f3a\u5931\u578b\uff09\u4e0eCMT1A\uff08\u91cd\u590d\u578b\uff09\u7684\u533a\u522b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u867d\u7136\u6d89\u53ca\u540c\u4e00\u4e2aPMP22\u57fa\u56e0\u3001\u540c\u4e0017p12\u533a\u57df\uff0c\u4f46\u7f3a\u5931\u578b\u4e0e\u91cd\u590d\u578b\u7684\u75c7\u72b6\u8868\u73b0\u5374\u5927\u4e0d\u76f8\u540c\uff0c\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>HNPP\uff0817p12\u7f3a\u5931\uff09<\/th><th>CMT1A\uff0817p12\u91cd\u590d\uff09<\/th><\/tr><\/thead><tbody><tr><td>\u57fa\u56e0\u53d8\u5316<\/td><td>\u542bPMP22\u57fa\u56e0\u7684\u533a\u57df\u7f3a\u59311\u4e2a\u62f7\u8d1d<\/td><td>\u542bPMP22\u57fa\u56e0\u7684\u533a\u57df\u91cd\u590d\u51fa1\u4e2a\u62f7\u8d1d<\/td><\/tr><tr><td>\u75c5\u7a0b\u7279\u70b9<\/td><td>\u56e0\u53d7\u538b\u800c\u7a81\u7136\u53d1\u4f5c\uff0c\u591a\u6570\u53ef\u81ea\u7136\u6062\u590d\u7684\u53d1\u4f5c\u6027\u75c5\u7a0b<\/td><td>\u624b\u811a\u529b\u91cf\u9010\u6e10\u51cf\u5f31\u7684\u7f13\u6162\u8fdb\u5c55\u6027\u75c5\u7a0b<\/td><\/tr><tr><td>\u4ee3\u8868\u6027\u75c7\u72b6<\/td><td>\u8153\u603b\u795e\u7ecf\u9ebb\u75f9\u5bfc\u81f4\u7684\u4e0b\u5782\u8db3\u3001\u8155\u7ba1\u7efc\u5408\u5f81\u3001\u5c3a\u795e\u7ecf\u9ebb\u75f9<\/td><td>\u9ad8\u5f13\u8db3\u3001\u4e0b\u5782\u8db3\u3001\u8fdc\u7aef\u808c\u8089\u65e0\u529b\u4e0e\u840e\u7f29\u3001\u611f\u89c9\u969c\u788d<\/td><\/tr><tr><td>\u53d1\u75c5\u5e74\u9f84\u5927\u81f4\u8303\u56f4<\/td><td>10\u591a\u5c81\u81f320\u591a\u5c81<\/td><td>5\u5c81\u81f325\u5c81<\/td><\/tr><tr><td>\u5728CMT\u603b\u4f53\u4e2d\u7684\u5927\u81f4\u5360\u6bd4<\/td><td>\u6bcf10\u4e07\u4eba\u4e2d\u7ea62\u81f35\u4eba<\/td><td>\u7ea6\u5360CMT\u603b\u4f53\u768450%<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<p>\u7b80\u5355\u6765\u8bf4\uff0cHNPP\u662f\u4e00\u79cd<strong>&#8220;\u5bb9\u6613\u56e0\u53d7\u538b\u800c\u53d1\u75c5&#8221;<\/strong>\u7684\u75be\u75c5\uff0c\u800cCMT1A\u5219\u662f\u4e00\u79cd<strong>&#8220;\u7f13\u6162\u6301\u7eed\u8fdb\u5c55&#8221;<\/strong>\u7684\u75be\u75c5\u3002\u8bca\u65ad\u4e66\u6216\u7f51\u7edc\u4fe1\u606f\u4e2d\u6709\u65f6\u4f1a\u5c06\u4e24\u8005\u6df7\u5728\u4e00\u8d77\u63cf\u8ff0\uff0c\u8bf7\u52a1\u5fc5\u786e\u8ba4\u68c0\u6d4b\u7ed3\u679c\u4e2d\u6807\u6ce8\u7684\u662f&#8221;\u7f3a\u5931&#8221;\u8fd8\u662f&#8221;\u91cd\u590d&#8221;\u3002<\/p>\n\n\n\n<p>\u6781\u5c11\u6570\u60c5\u51b5\u4e0b\uff0c\u65e2\u975e\u7f3a\u5931\u4e5f\u975e\u91cd\u590d\uff0c\u800c\u662fPMP22\u533a\u57df\u589e\u52a0\u4e3a3\u4e2a\u62f7\u8d1d\uff0c\u79f0\u4e3a<strong>&#8220;\u4e09\u91cd\u590d&#8221;<\/strong>\u3002\u8fd9\u79cd\u60c5\u51b5\u75c7\u72b6\u901a\u5e38\u6bd4CMT1A\u66f4\u91cd\uff0c\u5c5e\u4e8e\u53e6\u4e00\u79cd\u75c5\u75c7\uff0c\u79f0\u4e3a<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/yuan-harel-lupski-syndrome-yuhal-17p12\/?lang=zh-hans\">\u5143-\u54c8\u96f7\u5c14-\u9c81\u666e\u65af\u57fa\u7efc\u5408\u5f81\uff08YUHAL\uff09<\/a>\u3002\u5173\u4e8e\u91cd\u590d\u578b\u7684\u8be6\u7ec6\u8bf4\u660e\uff0c\u4e5f\u8bf7\u53c2\u9605<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/17p12-duplication-syndrome\/?lang=zh-hans\">17p12\u91cd\u590d\u7efc\u5408\u5f81\u76f8\u5173\u6587\u7ae0<\/a>\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/17p13-3-deletion-syndrome-miller-dieker-syndrome-miller-dieker-lissencephaly-syndrome-mdls-loss\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">17p13.3 \u6b20\u5931\u75c7\u5019\u7fa4 (Miller-Dieker \u75c7\u5019\u7fa4) \/ Miller-Dieker \u6ed1\u8133\u75c7\u5019\u7fa4 (MDLS) <\/div>\n          <div class=\"blog-card-excerpt\">\u30df\u30e9\u30fc\u30fb\u30c7\u30a3\u30fc\u30ab\u30fc\u75c7\u5019\u7fa4\uff08MDS\uff09\u306f\u300117\u756a\u67d3\u8272\u4f53\u306e\u6b20\u5931\u304c\u539f\u56e0\u3067\u767a\u75c7\u3059\u308b\u7a00\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002\u672c\u8a18\u4e8b\u3067\u306f\u3001\u75be\u60a3\u306e\u7279\u5fb4\u3001\u8a3a\u65ad\u65b9\u6cd5\u3001\u7ba1\u7406\u30a2\u30d7\u30ed\u30fc\u30c1...<\/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%E5%9B%A0%E5%8F%97%E5%8E%8B%E5%BC%95%E8%B5%B7%E7%9A%84%E4%B8%80%E8%BF%87%E6%80%A7%E7%A5%9E%E7%BB%8F%E9%9A%9C%E7%A2%8D\"><\/span><strong>3. \u4e3b\u8981\u75c7\u72b6\uff1a\u56e0\u53d7\u538b\u5f15\u8d77\u7684\u4e00\u8fc7\u6027\u795e\u7ecf\u969c\u788d<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>HNPP\u6700\u5927\u7684\u7279\u70b9\u662f\uff0c\u65e5\u5e38\u751f\u6d3b\u4e2d\u7684\u8f7b\u5fae\u538b\u8feb\u5c31\u53ef\u80fd\u8bf1\u53d1\u75c7\u72b6\u3002\u957f\u65f6\u95f4\u76d8\u817f\u800c\u5750\u3001\u6795\u81c2\u800c\u7720\uff0c\u6216\u5c06\u91cd\u7269\u957f\u65f6\u95f4\u80cc\u5728\u5355\u4fa7\u80a9\u8180\u4e0a\uff0c\u90fd\u53ef\u80fd\u6210\u4e3a\u8bf1\u56e0\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%AE%B9%E6%98%93%E5%8F%97%E5%8E%8B%E7%9A%84%E7%A5%9E%E7%BB%8F%E4%B8%8E%E7%9B%B8%E5%BA%94%E7%97%87%E7%8A%B6\"><\/span><strong>\u5bb9\u6613\u53d7\u538b\u7684\u795e\u7ecf\u4e0e\u76f8\u5e94\u75c7\u72b6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8eab\u4f53\u4e2d\u7279\u522b\u5bb9\u6613\u53d7\u5230\u538b\u8feb\u7684\u90e8\u4f4d\uff0c\u5176\u795e\u7ecf\u4e5f\u66f4\u5bb9\u6613\u51fa\u73b0\u75c7\u72b6\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8153\u603b\u795e\u7ecf\u9ebb\u75f9<\/strong>\uff1a\u7fd8\u4e8c\u90ce\u817f\u7b49\u59ff\u52bf\u53ef\u80fd\u8bf1\u53d1&#8221;\u4e0b\u5782\u8db3&#8221;\uff0c\u5373\u811a\u8e1d\u65e0\u6cd5\u62ac\u8d77\u3002<\/li>\n\n\n\n<li><strong>\u8155\u7ba1\u7efc\u5408\u5f81<\/strong>\uff1a\u624b\u8155\u53d7\u538b\u53ef\u80fd\u5bfc\u81f4\u62c7\u6307\u5230\u65e0\u540d\u6307\u51fa\u73b0\u9ebb\u6728\u6216\u611f\u89c9\u51cf\u9000\u3002<\/li>\n\n\n\n<li><strong>\u5c3a\u795e\u7ecf\u9ebb\u75f9<\/strong>\uff1a\u957f\u65f6\u95f4\u5f2f\u66f2\u8098\u90e8\u53ef\u80fd\u5bfc\u81f4\u5c0f\u6307\u4e00\u4fa7\u51fa\u73b0\u9ebb\u6728\u6216\u65e0\u529b\u3002<\/li>\n\n\n\n<li><strong>\u81c2\u4e1b\u795e\u7ecf\u635f\u4f24<\/strong>\uff1a\u957f\u65f6\u95f4\u80cc\u8d1f\u8f83\u91cd\u7684\u53cc\u80a9\u5305\uff0c\u4e5f\u53ef\u80fd\u5bfc\u81f4\u6574\u6761\u624b\u81c2\u4f7f\u4e0d\u4e0a\u529b\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u75c7\u72b6\u6301\u7eed\u65f6\u95f4\u56e0\u4eba\u800c\u5f02\uff0c\u4ece\u6570\u5206\u949f\u5230\u6570\u6708\u4e0d\u7b49\u3002\u591a\u6570\u60c5\u51b5\u4e0b\uff0c\u53ea\u8981\u6d88\u9664\u538b\u8feb\u8bf1\u56e0\uff0c\u6570\u5468\u81f3\u6570\u6708\u5185\u5373\u53ef\u81ea\u7136\u6062\u590d\uff0c\u4f46\u82e5\u53cd\u590d\u53d7\u538b\uff0c\u6062\u590d\u6240\u9700\u65f6\u95f4\u4e5f\u53ef\u80fd\u5ef6\u957f\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%E4%B8%AA%E4%BD%93%E5%B7%AE%E5%BC%82\"><\/span><strong>\u53d1\u75c5\u5e74\u9f84\u4e0e\u4e2a\u4f53\u5dee\u5f02<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u9996\u6b21\u75c7\u72b6\u591a\u572810\u591a\u5c81\u81f320\u591a\u5c81\u4e4b\u95f4\u51fa\u73b0\u3002\u4e0d\u8fc7\uff0c\u5373\u4f7f\u643a\u5e26\u8be5\u57fa\u56e0\u53d8\u5316\uff0c\u4e5f\u6709\u4eba\u7ec8\u751f\u4e0d\u51fa\u73b0\u4efb\u4f55\u75c7\u72b6\u3002\u5373\u4fbf\u5728\u540c\u4e00\u5bb6\u65cf\u5185\uff0c\u75c7\u72b6\u7684\u4e25\u91cd\u7a0b\u5ea6\u4e5f\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=\"427\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/30444643_s.jpg\" alt=\"\u5728\u5e7c\u513f\u56ed\u73a9\u800d\u7684\u5b69\u5b50\" class=\"wp-image-87138\"\/><\/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>HNPP\u9075\u5faa\u5e38\u67d3\u8272\u4f53\u663e\u6027\u9057\u4f20\u65b9\u5f0f\u3002\u82e5\u7236\u6bcd\u4e00\u65b9\u643a\u5e26PMP22\u7f3a\u5931\uff0c\u65e0\u8bba\u5b50\u5973\u6027\u522b\uff0c\u9057\u4f20\u6982\u7387\u7ea6\u4e3a\u4e8c\u5206\u4e4b\u4e00\u3002<\/p>\n\n\n\n<p>\u4e0d\u8fc7\uff0c\u5373\u4f7f\u5bb6\u65cf\u4e2d\u672a\u89c1\u76f8\u540c\u75c7\u72b6\u7684\u6210\u5458\uff0c\u4e5f\u53ef\u80fd\u5c5e\u4e8e\u65b0\u53d1\u7684\u81ea\u53d1\u6027\u7f3a\u5931\u3002\u662f\u5426\u4f1a\u5b9e\u9645\u9057\u4f20\uff0c\u56e0\u5bb6\u65cf\u60c5\u51b5\u800c\u5f02\u3002\u5173\u4e8e\u4e0b\u4e00\u80ce\u7684\u5177\u4f53\u9057\u4f20\u6982\u7387\uff0c\u8bf7\u901a\u8fc7\u4e34\u5e8a\u9057\u4f20\u4e13\u79d1\u533b\u5e08\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\uff08\u65e5\u6587\u8d44\u6599\uff09<\/a>\u8fdb\u884c\u4e2a\u522b\u786e\u8ba4\u3002<\/p>\n\n\n\n<p>\u5728\u4e3aNIPT\u5ba2\u6237\u63d0\u4f9b\u54a8\u8be2\u7684\u8fc7\u7a0b\u4e2d\uff0c\u6211\u63a5\u89e6\u8fc7\u8bb8\u591a\u9762\u4e34\u7c7b\u4f3c\u60c5\u51b5\u7684\u5bb6\u5ead\u3002\u5f88\u591a\u4eba\u9996\u5148\u60f3\u77e5\u9053\u7684\u662f&#8221;\u8fd9\u662f\u9057\u4f20\u81ea\u7236\u6bcd\uff0c\u8fd8\u662f\u5076\u7136\u53d1\u751f\u7684&#8221;\u3002\u6211\u6df1\u5207\u611f\u53d7\u5230\uff0c\u4e0d\u80fd\u53ea\u770b\u68c0\u6d4b\u7ed3\u679c\u672c\u8eab\uff0c\u8fd8\u5e94\u7ed3\u5408\u5bb6\u65cf\u8c31\u7cfb\u4e00\u5e76\u786e\u8ba4\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>HNPP\u7684\u8bca\u65ad\u9700\u5148\u786e\u8ba4\u75c7\u72b6\u7684\u53d1\u5c55\u8fc7\u7a0b\uff0c\u518d\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%80%81%E8%82%8C%E7%94%B5%E5%9B%BE%E6%A3%80%E6%9F%A5\"><\/span><strong>\u795e\u7ecf\u4f20\u5bfc\u68c0\u67e5\u3001\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\u901a\u8fc7\u5bf9\u795e\u7ecf\u65bd\u52a0\u7535\u523a\u6fc0\uff0c\u6d4b\u91cf\u4fe1\u53f7\u7684\u4f20\u5bfc\u901f\u5ea6\uff1b\u808c\u7535\u56fe\u68c0\u67e5\uff08EMG\uff09\u5219\u7528\u4e8e\u68c0\u67e5\u808c\u8089\u7684\u7535\u6d3b\u52a8\u3002\u8fd9\u4e24\u9879\u68c0\u67e5\u662f\u8bca\u65ad\u7684\u91cd\u8981\u7ebf\u7d22\uff0c\u5bb9\u6613\u53d7\u538b\u90e8\u4f4d\u51fa\u73b0\u4f20\u5bfc\u901f\u5ea6\u4e0b\u964d\u662f\u5176\u7279\u5f81\u4e4b\u4e00\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\u8fdb\u884c\u57fa\u56e0\u68c0\u6d4b\uff0c\u4ee5\u786e\u5b9aPMP22\u57fa\u56e0\u7684\u62f7\u8d1d\u6570\u3002\u5e38\u7528\u65b9\u6cd5\u5305\u62ecMLPA\u6cd5\u3001FISH\u6cd5\u53ca\u67d3\u8272\u4f53\u5fae\u9635\u5217\u5206\u6790\uff08CMA\uff09\uff0c\u7528\u4e8e\u5224\u65ad\u8be5\u57fa\u56e0\u662f\u51cf\u5c11\u4e3a1\u4e2a\u62f7\u8d1d\uff08\u7f3a\u5931\uff09\u3001\u7ef4\u63012\u4e2a\u62f7\u8d1d\uff0c\u8fd8\u662f\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\u533a\u5206\u7f3a\u5931\u578b\u4e0e\u91cd\u590d\u578b\uff0c\u901a\u8fc7\u57fa\u56e0\u68c0\u6d4b\u660e\u786e\u8bca\u65ad\uff0c\u4e5f\u6709\u52a9\u4e8e\u786e\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\u7f3a\u5931\u672c\u8eab\u7684\u6cbb\u7597\u65b9\u6cd5\uff0c\u56e0\u6b64\u5e94\u5bf9\u91cd\u70b9\u5728\u4e8e\u907f\u514d\u53d7\u538b\uff0c\u4ee5\u53ca\u5728\u75c7\u72b6\u51fa\u73b0\u65f6\u8fdb\u884c\u5bf9\u75c7\u6cbb\u7597\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%BF%E5%85%8D%E5%8F%97%E5%8E%8B%E7%9A%84%E7%94%9F%E6%B4%BB%E6%96%B9%E5%BC%8F%E8%B0%83%E6%95%B4\"><\/span><strong>\u907f\u514d\u53d7\u538b\u7684\u751f\u6d3b\u65b9\u5f0f\u8c03\u6574<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u9884\u9632\u75c7\u72b6\u6700\u91cd\u8981\u7684\u4e00\u70b9\uff0c\u662f\u5c3d\u91cf\u907f\u514d\u4f1a\u538b\u8feb\u795e\u7ecf\u7684\u52a8\u4f5c\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u8bf7\u907f\u514d\u957f\u65f6\u95f4\u7fd8\u4e8c\u90ce\u817f\u6216\u8dea\u5750\u3002<\/li>\n\n\n\n<li>\u8bf7\u9009\u62e9\u80fd\u5c06\u91cd\u91cf\u5206\u6563\u5230\u4e24\u4fa7\u80a9\u8180\u7684\u53cc\u80a9\u5305\uff0c\u907f\u514d\u5c06\u8f83\u91cd\u7684\u5305\u957f\u65f6\u95f4\u80cc\u5728\u5355\u4fa7\u80a9\u8180\u4e0a\u3002<\/li>\n\n\n\n<li>\u8bf7\u907f\u514d\u7528\u624b\u8098\u957f\u65f6\u95f4\u652f\u6491\u8eab\u4f53\u6216\u6795\u81c2\u800c\u7720\u7684\u59ff\u52bf\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%89%A9%E7%90%86%E6%B2%BB%E7%96%97%E3%80%81%E7%9F%AB%E5%BD%A2%E5%99%A8%E5%8F%8A%E7%BD%95%E8%A7%81%E7%9A%84%E5%A4%96%E7%A7%91%E5%B9%B2%E9%A2%84\"><\/span><strong>\u7269\u7406\u6cbb\u7597\u3001\u77eb\u5f62\u5668\u53ca\u7f55\u89c1\u7684\u5916\u79d1\u5e72\u9884<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u82e5\u4e0b\u5782\u8db3\u6301\u7eed\u5b58\u5728\uff0c\u6709\u65f6\u4f1a\u4f7f\u7528\u8e1d\u8db3\u77eb\u5f62\u5668\uff08AFO\uff09\u8f85\u52a9\u884c\u8d70\u3002\u4e3a\u7ef4\u6301\u808c\u529b\u548c\u5173\u8282\u67d4\u97e7\u6027\uff0c\u901a\u5e38\u4e5f\u4f1a\u540c\u6b65\u8fdb\u884c\u7269\u7406\u6cbb\u7597\u3002\u4ec5\u5f53\u9aa8\u9abc\u53d8\u5f62\u4e25\u91cd\u3001\u5df2\u5f71\u54cd\u65e5\u5e38\u751f\u6d3b\u65f6\uff0c\u624d\u4f1a\u8003\u8651\u5916\u79d1\u77eb\u6b63\u624b\u672f\u3002<\/p>\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%E7%BB%B4%E6%8C%81%E7%94%9F%E6%B4%BB%E8%B4%A8%E9%87%8F\"><\/span><strong>7. \u9884\u540e\uff1a\u7ef4\u6301\u751f\u6d3b\u8d28\u91cf<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>HNPP\u5e76\u975e\u8fdb\u884c\u6027\u75be\u75c5\uff0c\u53ea\u8981\u907f\u5f00\u5f15\u53d1\u53d7\u538b\u7684\u8bf1\u56e0\uff0c\u591a\u6570\u60a3\u8005\u80fd\u591f\u957f\u671f\u7ef4\u6301\u7a33\u5b9a\u7684\u751f\u6d3b\u8d28\u91cf\u3002\u5b9e\u9645\u4e0a\uff0c\u8bb8\u591a\u60a3\u8005\u90fd\u80fd\u7ef4\u6301\u6b63\u5e38\u7684\u65e5\u5e38\u751f\u6d3b\u4e0e\u5de5\u4f5c\u3002<\/p>\n\n\n\n<p>\u4e0d\u8fc7\uff0c\u4e5f\u6709\u62a5\u544a\u6307\u51fa\uff0c\u82e5\u53cd\u590d\u53d7\u538b\uff0c\u6216\u5c5e\u4e8e\u70b9\u7a81\u53d8\u5f15\u8d77\u7684\u7c7b\u578b\uff0c\u75c7\u72b6\u53ef\u80fd\u66f4\u5bb9\u6613\u6b8b\u7559\u3002\u5efa\u8bae\u5b9a\u671f\u5230\u795e\u7ecf\u5185\u79d1\u590d\u8bca\uff0c\u6301\u7eed\u89c2\u5bdf\u75c5\u60c5\u53d8\u5316\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\u68c0\u6d4b\u768421\u4e09\u4f53\u300118\u4e09\u4f53\u300113\u4e09\u4f53\u7b49<strong>\u57fa\u7840\u68c0\u6d4b\u9879\u76ee\uff0c\u5e76\u4e0d\u5305\u542b17p12\u8fd9\u7c7b\u67d3\u8272\u4f53\u5fae\u5c0f\u7f3a\u5931\u6216\u91cd\u590d\u3002<\/strong>\u90e8\u5206\u68c0\u6d4b\u65b9\u6848\u63d0\u4f9b\u53ef\u9009\u7684\u6269\u5c55\u9879\u76ee\uff0c\u6db5\u76d6\u5fae\u5c0f\u7f3a\u5931\u3001\u5fae\u5c0f\u91cd\u590d\u7c7b\u75be\u75c5\uff0c\u4f46\u5177\u4f53\u8986\u76d6\u7684\u75be\u75c5\u8303\u56f4\u56e0\u68c0\u6d4b\u673a\u6784\u4e0e\u65b9\u6848\u800c\u5f02\u3002<\/p>\n\n\n\n<p>\u60a8\u6240\u8003\u8651\u7684\u68c0\u6d4b\u65b9\u6848\u662f\u5426\u8986\u76d617p12\u533a\u57df\uff0c<strong>\u8bf7\u76f4\u63a5\u5411\u6240\u9009\u68c0\u6d4b\u673a\u6784\u54a8\u8be2\u786e\u8ba4\u3002<\/strong>\u540c\u65f6\u4e5f\u5efa\u8bae\u53c2\u9605<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-202407001\/\">\u5173\u4e8eNIPT\u68c0\u6d4b\u5fae\u5c0f\u7f3a\u5931\u7efc\u5408\u5f81\u7684\u8bf4\u660e\u6587\u7ae0\uff08\u65e5\u6587\u8d44\u6599\uff09<\/a>\uff0c\u4ee5\u53ca<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/microdeletion-syndrome\/?lang=zh-hans\">\u5fae\u5c0f\u7f3a\u5931\u30fb\u91cd\u590d\u7c7b\u75be\u75c5\u4e00\u89c8<\/a>\u3002<\/p>\n\n\n\n<p>\u53e6\u5916\u8fd8\u6709\u4e00\u70b9\u5e0c\u671b\u60a8\u4e86\u89e3\uff1a<strong>NIPT\u7ec8\u7a76\u53ea\u662f\u4e00\u9879\u975e\u786e\u5b9a\u6027\u7684\u7b5b\u67e5\u68c0\u6d4b\u3002<\/strong>\u82e5\u7b5b\u67e5\u7ed3\u679c\u4e3a\u9633\u6027\uff0c\u9700\u901a\u8fc7\u7f8a\u6c34\u7a7f\u523a\u7b49\u65b9\u5f0f\u8fdb\u884c\u786e\u8bca\u3002\u786e\u8bca\u68c0\u6d4b\u4f1a\u4f7f\u7528\u53d6\u5f97\u7684\u6837\u672c\uff0c\u901a\u8fc7MLPA\u6cd5\u6216\u67d3\u8272\u4f53\u5fae\u9635\u5217\u5206\u6790\uff08CMA\uff09\u7b49\u65b9\u6cd5\u68c0\u6d4bPMP22\u57fa\u56e0\u7684\u62f7\u8d1d\u6570\u3002\u6b64\u5916\u8fd8\u8bf7\u4e86\u89e3\uff0c\u4ec5\u51ed\u5e38\u89c4\u663e\u5fae\u955c\u4e0b\u7684\u67d3\u8272\u4f53\u68c0\u67e5\uff08G\u663e\u5e26\u6cd5\uff09\uff0c\u5f80\u5f80\u65e0\u6cd5\u53d1\u73b0\u8be5\u533a\u57df\u7684\u8fd9\u7c7b\u53d8\u5316\u3002<\/p>\n\n\n\n<p>\u5728\u64b0\u5199\u672c\u6587\u65f6\uff0c\u6211\u4eec\u66fe\u5728X\uff08\u539fTwitter\uff09\u4e0a\u641c\u7d22\u56fd\u5185\u5173\u4e8e\u8be5\u75be\u75c5\u7684\u771f\u5b9e\u7ecf\u5386\u5206\u4eab\uff0c\u4f46\u8fd1\u671f\u672a\u627e\u5230\u76f8\u5173\u5e16\u5b50\u3002\u7531\u4e8e\u8fd9\u662f\u4e00\u79cd\u7f55\u89c1\u75be\u75c5\uff0c\u7b2c\u4e00\u624b\u4fe1\u606f\u7a00\u5c11\u4e5f\u5728\u60c5\u7406\u4e4b\u4e2d\u3002\u56e0\u6b64\uff0c\u672c\u6587\u6539\u4e3a\u53c2\u8003\u65e5\u672c\u96be\u75c5\u4fe1\u606f\u4e2d\u5fc3\u53caMGenReviews\u7b49\u516c\u5171\u673a\u6784\u4e0e\u5b66\u4f1a\u53d1\u5e03\u7684\u8d44\u6599\u4f5c\u4e3a\u4f9d\u636e\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\/plan-finder\/?lang=en\" target=\"_blank\" rel=\"noopener\">\u901a\u8fc7\u65b9\u6848\u8bca\u65ad\u67e5\u627e\u9002\u5408\u60a8\u7684\u68c0\u6d4b<\/a><\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"9_%E8%87%B4%E6%82%A3%E8%80%85%E5%AE%B6%E5%B1%9E%E7%9A%84%E8%AF%9D\"><\/span><strong>9. \u81f4\u60a3\u8005\u5bb6\u5c5e\u7684\u8bdd<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u770b\u5230&#8221;\u8153\u9aa8\u808c\u840e\u7f29\u75c71A\u578b&#8221;\u8fd9\u4e00\u75c5\u540d\uff0c\u6709\u4e9b\u4eba\u53ef\u80fd\u4f1a\u8bef\u4ee5\u4e3a\u81ea\u5df1\u9762\u5bf9\u7684\u662f\u4e00\u79cd\u8fdb\u884c\u6027\u75be\u75c5\u800c\u611f\u5230\u4e0d\u5b89\u3002\u4f46\u7f3a\u5931\u578bHNPP\u4e0e\u91cd\u590d\u578bCMT1A\u7684\u75c5\u7a0b\u5e76\u4e0d\u76f8\u540c\uff0c\u53ea\u8981\u6ce8\u610f\u907f\u514d\u53d7\u538b\u8bf1\u56e0\uff0c\u5c31\u80fd\u8f83\u4e3a\u5e73\u7a33\u5730\u4e0e\u4e4b\u5171\u5904\u3002<\/p>\n\n\n\n<p>\u82e5\u9700\u8981\u957f\u671f\u590d\u8bca\u53ca\u77eb\u5f62\u5668\u7ba1\u7406\uff0c\u5bb6\u5ead\u7684\u8d1f\u62c5\u6709\u65f6\u4f1a\u968f\u4e4b\u52a0\u91cd\u3002\u8bf7\u4e0e\u533b\u7597\u56e2\u961f\u53ca\u652f\u63f4\u7ec4\u7ec7\u4fdd\u6301\u5408\u4f5c\uff0c\u5728\u4e0d\u52c9\u5f3a\u81ea\u5df1\u7684\u8303\u56f4\u5185\uff0c\u9010\u6b65\u5efa\u7acb\u53ef\u6301\u7eed\u7684\u5e94\u5bf9\u65b9\u5f0f\u3002<\/p>\n\n\n\n<p>\u5728\u9057\u4f20\u54a8\u8be2\u73b0\u573a\uff0c&#8221;\u4e0b\u4e00\u4e2a\u5b69\u5b50\u662f\u5426\u4e5f\u4f1a\u9057\u4f20&#8221;\u662f\u6211\u4eec\u7ecf\u5e38\u542c\u5230\u7684\u95ee\u9898\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\u80fd\u591f\u8ba9\u9884\u671f\u53d8\u5f97\u66f4\u52a0\u6e05\u6670\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    <a href=\"\/nipt\/18q-deletion-syndrome\/?lang=zh-hans\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">18q\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u306f\uff5c\u539f\u56e0\u30fb\u75c7\u72b6\u30fbNIPT\u3068\u306e\u95a2\u4fc2\u3092\u89e3\u8aac <\/div>\n          <div class=\"blog-card-excerpt\">18q\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u300118\u756a\u67d3\u8272\u4f53\u306e\u6b20\u5931\u306b\u3088\u308a\u767a\u9054\u9045\u5ef6\u3084\u77e5\u7684\u969c\u5bb3\u3001\u8074\u529b\u4f4e\u4e0b\u306a\u3069\u306e\u75c7\u72b6\u3092\u5f15\u304d\u8d77\u3053\u3059\u907a\u4f1d\u7684\u75be\u60a3\u3067\u3059\u3002\u65e9\u671f\u306e\u652f\u63f4\u3068\u6cbb\u7642\u306b\u3088\u308a\u751f\u6d3b\u306e\u8cea...<\/div>\n      <\/div>\n    <\/a>\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\/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\uff0c\u6b22\u8fce\u62e8\u6253<a href=\"tel:0120169629\">0120-169-629<\/a>\uff08\u65e5\u672c\u56fd\u5185\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%E7%BC%BA%E5%A4%B1%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\u7f3a\u5931\u7efc\u5408\u5f81\u4e0e\u8153\u9aa8\u808c\u840e\u7f29\u75c71A\u578b\uff08CMT1A\uff09\u662f\u540c\u4e00\u79cd\u75be\u75c5\u5417\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u4e24\u8005\u6d89\u53ca\u540c\u4e00\u4e2aPMP22\u57fa\u56e0\u3001\u540c\u4e0017p12\u533a\u57df\uff0c\u4f46\u5c5e\u4e8e\u4e0d\u540c\u75be\u75c5\u3002\u7f3a\u5931\u5f15\u8d77\u7684\u662f\u9057\u4f20\u6027\u538b\u529b\u6613\u611f\u6027\u5468\u56f4\u795e\u7ecf\u75c5\uff08HNPP\uff09\uff0c\u91cd\u590d\u5f15\u8d77\u7684\u662fCMT1A\uff0c\u4e24\u8005\u7684\u75c5\u7a0b\u4e5f\u4e0d\u76f8\u540c\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"HNPP%E4%BC%9A%E5%87%BA%E7%8E%B0%E5%93%AA%E4%BA%9B%E7%97%87%E7%8A%B6%EF%BC%9F\"><\/span>HNPP\u4f1a\u51fa\u73b0\u54ea\u4e9b\u75c7\u72b6\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8dea\u5750\u3001\u6795\u81c2\u800c\u7720\u7b49\u538b\u8feb\u795e\u7ecf\u7684\u59ff\u52bf\uff0c\u53ef\u80fd\u8bf1\u53d1\u624b\u811a\u7a81\u53d1\u6027\u9ebb\u6728\u6216\u65e0\u529b\uff0c\u4e0b\u5782\u8db3\u4e0e\u8155\u7ba1\u7efc\u5408\u5f81\u662f\u8f83\u5177\u4ee3\u8868\u6027\u7684\u75c7\u72b6\u3002\u591a\u6570\u60c5\u51b5\u4e0b\u53ef\u5728\u6570\u5468\u81f3\u6570\u6708\u5185\u81ea\u7136\u6062\u590d\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%BF%99%E7%A7%8D%E7%96%BE%E7%97%85%E4%BC%9A%E9%81%97%E4%BC%A0%E7%BB%99%E5%AD%A9%E5%AD%90%E5%90%97%EF%BC%9F\"><\/span>\u8fd9\u79cd\u75be\u75c5\u4f1a\u9057\u4f20\u7ed9\u5b69\u5b50\u5417\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u7531\u4e8e\u5c5e\u4e8e\u5e38\u67d3\u8272\u4f53\u663e\u6027\u9057\u4f20\uff0c\u82e5\u7236\u6bcd\u4e00\u65b9\u643a\u5e26\u7f3a\u5931\uff0c\u65e0\u8bba\u5b50\u5973\u6027\u522b\uff0c\u9057\u4f20\u6982\u7387\u7ea6\u4e3a\u4e8c\u5206\u4e4b\u4e00\u3002\u5373\u4f7f\u5bb6\u65cf\u4e2d\u6ca1\u6709\u60a3\u8005\uff0c\u4e5f\u53ef\u80fd\u4f5c\u4e3a\u65b0\u53d1\u7684\u81ea\u53d1\u6027\u7a81\u53d8\u51fa\u73b0\u3002\u8be6\u7ec6\u60c5\u51b5\u8bf7\u901a\u8fc7\u9057\u4f20\u54a8\u8be2\u786e\u8ba4\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%AD%95%E6%9C%9FNIPT%E6%A3%80%E6%B5%8B%E8%83%BD%E5%8F%91%E7%8E%B0%E8%BF%99%E7%A7%8D%E7%96%BE%E7%97%85%E5%90%97%EF%BC%9F\"><\/span>\u5b55\u671fNIPT\u68c0\u6d4b\u80fd\u53d1\u73b0\u8fd9\u79cd\u75be\u75c5\u5417\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8be5\u75be\u75c5\u4e0d\u572821\u4e09\u4f53\u300118\u4e09\u4f53\u300113\u4e09\u4f53\u7b49\u57fa\u7840\u68c0\u6d4b\u9879\u76ee\u8303\u56f4\u5185\u3002\u90e8\u5206\u68c0\u6d4b\u65b9\u6848\u63d0\u4f9b\u8986\u76d6\u5fae\u5c0f\u7f3a\u5931\u3001\u5fae\u5c0f\u91cd\u590d\u7c7b\u75be\u75c5\u7684\u53ef\u9009\u9879\u76ee\uff0c\u4f46\u8986\u76d6\u8303\u56f4\u56e0\u68c0\u6d4b\u673a\u6784\u800c\u5f02\uff0c\u8bf7\u76f4\u63a5\u5411\u60a8\u6240\u8003\u8651\u7684\u68c0\u6d4b\u673a\u6784\u786e\u8ba4\u3002\u82e5\u7b5b\u67e5\u7ed3\u679c\u4e3a\u9633\u6027\uff0c\u5219\u9700\u8981\u901a\u8fc7\u7f8a\u6c34\u7a7f\u523a\u7b49\u65b9\u5f0f\u8fdb\u884c\u786e\u8bca\u68c0\u6d4b\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%80%9A%E8%BF%87%E5%93%AA%E4%BA%9B%E6%A3%80%E6%9F%A5%E5%8F%AF%E4%BB%A5%E7%A1%AE%E8%AF%8A%EF%BC%9F\"><\/span>\u901a\u8fc7\u54ea\u4e9b\u68c0\u67e5\u53ef\u4ee5\u786e\u8bca\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u786e\u8bca\u9700\u7ed3\u5408\u795e\u7ecf\u4f20\u5bfc\u68c0\u67e5\u3001\u808c\u7535\u56fe\u68c0\u67e5\u4e0e\u57fa\u56e0\u68c0\u6d4b\u3002\u57fa\u56e0\u68c0\u6d4b\u5e38\u91c7\u7528MLPA\u6cd5\u3001FISH\u6cd5\u53ca\u67d3\u8272\u4f53\u5fae\u9635\u5217\u5206\u6790\uff08CMA\uff09\u7b49\u65b9\u6cd5\uff0c\u68c0\u6d4bPMP22\u57fa\u56e0\u7684\u62f7\u8d1d\u6570\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%85%93%E9%AA%A8%E8%82%8C%E8%90%8E%E7%BC%A9%E7%97%87%E5%B1%9E%E4%BA%8E%E6%97%A5%E6%9C%AC%E7%9A%84%E6%8C%87%E5%AE%9A%E9%9A%BE%E7%97%85%E5%90%97%EF%BC%9F\"><\/span>\u8153\u9aa8\u808c\u840e\u7f29\u75c7\u5c5e\u4e8e\u65e5\u672c\u7684\u6307\u5b9a\u96be\u75c5\u5417\uff1f<span 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