{"id":85399,"date":"2024-11-14T14:25:03","date_gmt":"2024-11-14T05:25:03","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/9p-deletion-syndrome\/"},"modified":"2026-07-12T21:22:49","modified_gmt":"2026-07-12T12:22:49","slug":"9p-deletion-syndrome","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/9p-deletion-syndrome\/?lang=zh-hans","title":{"rendered":"9p\u7f3a\u5931\u7efc\u5408\u5f81"},"content":{"rendered":"\n<p><strong>\u5982\u679c\u60a8\u521a\u521a\u5f97\u77e5\u5b9d\u5b9d\u88ab\u8bca\u65ad\u4e3a&#8221;9p\u7f3a\u5931\u7efc\u5408\u5f81&#8221;\uff0c\u5e76\u542c\u5230&#8221;\u4e09\u89d2\u5934\u7578\u5f62&#8221;\u8fd9\u4e2a\u964c\u751f\u7684\u8bcd\uff0c\u611f\u5230\u4e0d\u77e5\u6240\u63aa\uff0c\u8fd9\u662f\u5f88\u6b63\u5e38\u7684\u3002<\/strong><\/p>\n\n\n\n<p><strong>\u5148\u8bf4\u7ed3\u8bba\u30029p\u7f3a\u5931\u7efc\u5408\u5f81\u662f\u4e00\u79cd\u6781\u4e3a\u7f55\u89c1\u7684\u67d3\u8272\u4f53\u75be\u75c5\uff0c\u75319\u53f7\u67d3\u8272\u4f53\u77ed\u81c2\uff08p\u81c2\uff09\u672b\u7aef\u9644\u8fd1\u7684\u9057\u4f20\u7269\u8d28\u5148\u5929\u6027\u7f3a\u5931\u5f15\u8d77\u3002<\/strong>\u8be5\u75c5\u4e8e1973\u5e74\u9996\u6b21\u62a5\u544a\uff0c\u5e76\u4ee5\u62a5\u544a\u8005\u7684\u540d\u5b57\u547d\u540d\u4e3a&#8221;\u963f\u5c14\u83f2\u7efc\u5408\u5f81\uff08Alfi syndrome\uff09&#8221;\u3002\u5176\u4e24\u5927\u7279\u5f81\u662f\uff1a\u5bb9\u6613\u6210\u4e3a\u8bca\u65ad\u5951\u673a\u7684&#8221;\u4e09\u89d2\u5934\u7578\u5f62&#8221;\uff08\u989d\u5934\u5448\u4e09\u89d2\u5f62\u5411\u524d\u7a81\u51fa\uff09\uff0c\u4ee5\u53ca\u6839\u636e\u7f3a\u5931\u8303\u56f4\u4e0d\u540c\uff0c\u53ef\u80fd\u5f71\u54cd\u6027\u5206\u5316\uff08\u5b9d\u5b9d\u8eab\u4f53\u6027\u522b\u7279\u5f81\u5f62\u6210\u7684\u8fc7\u7a0b\uff09\u3002<\/p>\n\n\n\n<p>\u672c\u6587\u5c06\u7cfb\u7edf\u4ecb\u7ecd\u5bfc\u81f4\u8be5\u75c5\u7684\u67d3\u8272\u4f53\u53d8\u5316\u3001\u4e3b\u8981\u75c7\u72b6\u3001\u5bf9\u6027\u5206\u5316\u7684\u5f71\u54cd\u3001\u4e0e\u540d\u79f0\u76f8\u4f3c\u75be\u75c5\u7684\u533a\u522b\u3001\u9057\u4f20\u65b9\u5f0f\u3001\u4e0e\u4ea7\u524d\u8bca\u65ad\u53caNIPT\u7684\u5173\u7cfb\uff0c\u4ee5\u53ca\u6cbb\u7597\u548c\u5bb6\u5ead\u652f\u6301\u65b9\u5f0f\u3002\u5185\u5bb9\u5747\u57fa\u4e8e\u516c\u5171\u673a\u6784\u548c\u5b66\u672f\u8bba\u6587\u7684\u4fe1\u606f\uff0c\u8bf7\u60a8\u8ddf\u968f\u672c\u6587\u9010\u4e00\u786e\u8ba4\uff0c\u4e0d\u5fc5\u88ab\u96f6\u6563\u7684\u4fe1\u606f\u6240\u56f0\u6270\u3002<\/p>\n\n\n\n<div 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style=\"margin:0;padding-left:1.2em;\">\n<li>9p\u7f3a\u5931\u7efc\u5408\u5f81\u662f\u600e\u6837\u7684\u67d3\u8272\u4f53\u53d8\u5316\uff0c\u4e0e\u4e09\u89d2\u5934\u7578\u5f62\u7684\u5173\u7cfb<\/li>\n<li>\u53d1\u80b2\u8fdf\u7f13\u3001\u7279\u5f81\u6027\u9762\u5bb9\u3001\u5fc3\u810f\u5e76\u53d1\u75c7\u7b49\u4e3b\u8981\u75c7\u72b6<\/li>\n<li>\u65e0\u8bba\u6027\u522b\u90fd\u53ef\u80fd\u51fa\u73b0\u7684\u6027\u5206\u5316\u5f71\u54cd\u53ca\u5176\u539f\u56e0\uff08DMRT1\u57fa\u56e0\uff09<\/li>\n<li>\u4e0e&#8221;9p13\u5fae\u5c0f\u7f3a\u5931\u7efc\u5408\u5f81&#8221;&#8221;9p24.3\u7f3a\u5931\u7efc\u5408\u5f81&#8221;&#8221;9p\u91cd\u590d\u7efc\u5408\u5f81&#8221;\u7684\u533a\u522b<\/li>\n<li>\u9057\u4f20\u65b9\u5f0f\uff08\u65b0\u53d1\u7a81\u53d8\u4e0e\u5e73\u8861\u6613\u4f4d\uff09\u53ca\u5bf9\u4e0b\u4e00\u80ce\u7684\u5f71\u54cd<\/li>\n<li>\u4ea7\u524d\u8bca\u65ad\u3001NIPT\u5728\u54ea\u4e9b\u60c5\u51b5\u4e0b\u53ef\u4ee5\u53ca\u4e0d\u53ef\u4ee5\u68c0\u51fa\u8be5\u75c5<\/li>\n<li>\u786e\u8bca\u540e\u7684\u6cbb\u7597\u65b9\u9488\u53ca\u5bb6\u5ead\u652f\u6301\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 .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\/9p-deletion-syndrome\/?lang=zh-hans\/#1_%E4%BB%80%E4%B9%88%E6%98%AF9p%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\" >1. \u4ec0\u4e48\u662f9p\u7f3a\u5931\u7efc\u5408\u5f81\uff08\u5f15\u8d77\u8be5\u75c5\u7684\u67d3\u8272\u4f53\u53d8\u5316\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link 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>\u7279\u5f81\u6027\u9762\u5bb9<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/9p-deletion-syndrome\/?lang=zh-hans\/#%E5%8F%91%E8%82%B2%E3%80%81%E6%99%BA%E5%8A%9B%E7%89%B9%E5%BE%81%E4%B8%8E%E5%BF%83%E8%84%8F%E5%B9%B6%E5%8F%91%E7%97%87\" >\u53d1\u80b2\u3001\u667a\u529b\u7279\u5f81\u4e0e\u5fc3\u810f\u5e76\u53d1\u75c7<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/9p-deletion-syndrome\/?lang=zh-hans\/#3_%E5%AF%B9%E6%80%A7%E5%88%86%E5%8C%96%E7%9A%84%E5%BD%B1%E5%93%8D%EF%BC%88DMRT1%E5%9F%BA%E5%9B%A0%E4%B8%8E46XY%E6%80%A7%E5%88%86%E5%8C%96%E5%BC%82%E5%B8%B8%EF%BC%89\" >3. \u5bf9\u6027\u5206\u5316\u7684\u5f71\u54cd\uff08DMRT1\u57fa\u56e0\u4e0e46,XY\u6027\u5206\u5316\u5f02\u5e38\uff09<\/a><\/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\/9p-deletion-syndrome\/?lang=zh-hans\/#4_%E4%B8%8E%E5%90%8D%E7%A7%B0%E7%9B%B8%E4%BC%BC%E7%96%BE%E7%97%85%E7%9A%84%E5%8C%BA%E5%88%AB\" >4. \u4e0e\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\/9p-deletion-syndrome\/?lang=zh-hans\/#5_%E7%97%85%E5%9B%A0%E4%B8%8E%E9%81%97%E4%BC%A0%E6%96%B9%E5%BC%8F%EF%BC%88%E6%96%B0%E5%8F%91%E7%AA%81%E5%8F%98%E4%B8%8E%E5%B9%B3%E8%A1%A1%E6%98%93%E4%BD%8D%EF%BC%89\" >5. \u75c5\u56e0\u4e0e\u9057\u4f20\u65b9\u5f0f\uff08\u65b0\u53d1\u7a81\u53d8\u4e0e\u5e73\u8861\u6613\u4f4d\uff09<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/9p-deletion-syndrome\/?lang=zh-hans\/#%E6%96%B0%E5%8F%91%E7%AA%81%E5%8F%98%EF%BC%88%E5%81%B6%E5%8F%91%E6%80%A7%E5%8F%98%E5%8C%96%EF%BC%89%E7%9A%84%E6%83%85%E5%86%B5\" >\u65b0\u53d1\u7a81\u53d8\uff08\u5076\u53d1\u6027\u53d8\u5316\uff09\u7684\u60c5\u51b5<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/9p-deletion-syndrome\/?lang=zh-hans\/#%E7%88%B6%E6%AF%8D%E5%B9%B3%E8%A1%A1%E6%98%93%E4%BD%8D%E4%B8%8E%E5%A4%8D%E5%8F%91%E9%A3%8E%E9%99%A9\" >\u7236\u6bcd\u5e73\u8861\u6613\u4f4d\u4e0e\u590d\u53d1\u98ce\u9669<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/9p-deletion-syndrome\/?lang=zh-hans\/#6_%E4%B8%8E%E4%BA%A7%E5%89%8D%E8%AF%8A%E6%96%AD%E3%80%81NIPT%E7%9A%84%E5%85%B3%E7%B3%BB\" >6. 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>\u7236\u6bcd\u67d3\u8272\u4f53\u68c0\u67e5<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-15\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/9p-deletion-syndrome\/?lang=zh-hans\/#%E5%87%BA%E7%94%9F%E5%90%8E%E7%9A%84%E8%AF%84%E4%BC%B0\" >\u51fa\u751f\u540e\u7684\u8bc4\u4f30<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/9p-deletion-syndrome\/?lang=zh-hans\/#%E6%B2%BB%E7%96%97\" >\u6cbb\u7597<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/9p-deletion-syndrome\/?lang=zh-hans\/#%E9%A2%84%E5%90%8E\" >\u9884\u540e<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-18\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/9p-deletion-syndrome\/?lang=zh-hans\/#%E7%88%B6%E6%AF%8D%E7%9A%84%E8%B4%9F%E6%8B%85%E4%B8%8E%E5%AE%B6%E5%BA%AD%E6%94%AF%E6%8C%81\" >\u7236\u6bcd\u7684\u8d1f\u62c5\u4e0e\u5bb6\u5ead\u652f\u6301<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-19\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/9p-deletion-syndrome\/?lang=zh-hans\/#%E5%B8%B8%E8%A7%81%E9%97%AE%E9%A2%98\" >\u5e38\u89c1\u95ee\u9898<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-20\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/9p-deletion-syndrome\/?lang=zh-hans\/#9p%E7%BC%BA%E5%A4%B1%E7%BB%BC%E5%90%88%E5%BE%81%E4%B8%8E%E2%80%9D9p13%E5%BE%AE%E5%B0%8F%E7%BC%BA%E5%A4%B1%E7%BB%BC%E5%90%88%E5%BE%81%E2%80%9D%E2%80%9D9p243%E7%BC%BA%E5%A4%B1%E7%BB%BC%E5%90%88%E5%BE%81%E2%80%9D%E6%98%AF%E5%90%8C%E4%B8%80%E7%A7%8D%E7%96%BE%E7%97%85%E5%90%97%EF%BC%9F\" >9p\u7f3a\u5931\u7efc\u5408\u5f81\u4e0e&#8221;9p13\u5fae\u5c0f\u7f3a\u5931\u7efc\u5408\u5f81&#8221;&#8221;9p24.3\u7f3a\u5931\u7efc\u5408\u5f81&#8221;\u662f\u540c\u4e00\u79cd\u75be\u75c5\u5417\uff1f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-21\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/9p-deletion-syndrome\/?lang=zh-hans\/#9p%E7%BC%BA%E5%A4%B1%E7%BB%BC%E5%90%88%E5%BE%81%E4%B8%8E%E2%80%9D9p%E9%87%8D%E5%A4%8D%E7%BB%BC%E5%90%88%E5%BE%81%EF%BC%889p%E4%B8%89%E4%BD%93%EF%BC%89%E2%80%9D%E6%98%AF%E5%90%8C%E4%B8%80%E7%A7%8D%E7%96%BE%E7%97%85%E5%90%97%EF%BC%9F\" >9p\u7f3a\u5931\u7efc\u5408\u5f81\u4e0e&#8221;9p\u91cd\u590d\u7efc\u5408\u5f81\uff089p\u4e09\u4f53\uff09&#8221;\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-22\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/9p-deletion-syndrome\/?lang=zh-hans\/#%E6%82%A3%E6%9C%89%E6%AD%A4%E7%97%85%E7%9A%84%E5%AD%A9%E5%AD%90%E4%B8%80%E5%AE%9A%E4%BC%9A%E5%87%BA%E7%8E%B0%E6%80%A7%E5%88%86%E5%8C%96%E6%96%B9%E9%9D%A2%E7%9A%84%E5%BD%B1%E5%93%8D%E5%90%97%EF%BC%9F\" >\u60a3\u6709\u6b64\u75c5\u7684\u5b69\u5b50\u4e00\u5b9a\u4f1a\u51fa\u73b0\u6027\u5206\u5316\u65b9\u9762\u7684\u5f71\u54cd\u5417\uff1f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-23\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/9p-deletion-syndrome\/?lang=zh-hans\/#NIPT%E8%83%BD%E6%A3%80%E6%B5%8B%E5%87%BA9p%E7%BC%BA%E5%A4%B1%E7%BB%BC%E5%90%88%E5%BE%81%E5%90%97%EF%BC%9F\" >NIPT\u80fd\u68c0\u6d4b\u51fa9p\u7f3a\u5931\u7efc\u5408\u5f81\u5417\uff1f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-24\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/9p-deletion-syndrome\/?lang=zh-hans\/#%E8%BF%99%E6%98%AF%E9%81%97%E4%BC%A0%E6%80%A7%E7%96%BE%E7%97%85%E5%90%97%EF%BC%9F%E4%BC%9A%E5%BD%B1%E5%93%8D%E4%B8%8B%E4%B8%80%E8%83%8E%E5%90%97%EF%BC%9F\" >\u8fd9\u662f\u9057\u4f20\u6027\u75be\u75c5\u5417\uff1f\u4f1a\u5f71\u54cd\u4e0b\u4e00\u80ce\u5417\uff1f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-25\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/9p-deletion-syndrome\/?lang=zh-hans\/#%E5%BF%83%E8%84%8F%E5%B9%B6%E5%8F%91%E7%97%87%E7%9A%84%E5%8F%91%E7%94%9F%E7%8E%87%E6%9C%89%E5%A4%9A%E9%AB%98%EF%BC%9F\" >\u5fc3\u810f\u5e76\u53d1\u75c7\u7684\u53d1\u751f\u7387\u6709\u591a\u9ad8\uff1f<\/a><\/li><\/ul><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E4%BB%80%E4%B9%88%E6%98%AF9p%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\u662f9p\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\u63079\u53f7\u67d3\u8272\u4f53\u77ed\u81c2\uff08p\u81c2\uff09\u672b\u7aef\u9644\u8fd1\u7684\u9057\u4f20\u4fe1\u606f\u5148\u5929\u6027\u7f3a\u5931\u7684\u72b6\u6001\u3002<\/strong>1973\u5e74\u7531\u963f\u5c14\u83f2\uff08Alfi\uff09\u533b\u751f\u56e2\u961f\u9996\u6b21\u62a5\u544a\uff0c\u56e0\u6b64\u4e5f\u88ab\u79f0\u4e3a&#8221;\u963f\u5c14\u83f2\u7efc\u5408\u5f81&#8221;\u6216&#8221;9p\u5355\u4f53\uff08monosomy 9p\uff09&#8221;\u3002<\/p>\n\n\n\n<p>\u7f3a\u5931\u8303\u56f4\u56e0\u4eba\u800c\u5f02\uff0c\u6709\u7684\u4ece\u672b\u7aef\u76849p24\u9644\u8fd1\u5ef6\u4f38\u5230\u63a5\u8fd1\u7740\u4e1d\u7c92\u76849p22\u9644\u8fd1\uff0c\u6bcf\u4f4d\u60a3\u8005\u7684\u65ad\u88c2\u70b9\uff08\u7f3a\u5931\u8d77\u6b62\u4f4d\u7f6e\uff09\u90fd\u4e0d\u5c3d\u76f8\u540c\u3002\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\/18732\/distal-monosomy-9p-syndrome\" target=\"_blank\" rel=\"noopener\">GARD\uff08Genetic and Rare Diseases Information Center\uff09<\/a>\u4ecb\u7ecd\uff0c9p\u7f3a\u5931\u7efc\u5408\u5f81\uff08distal monosomy 9p\uff09\u662f\u4e00\u79cd\u8868\u73b0\u578b\u8303\u56f4\u8f83\u5e7f\u7684\u75be\u75c5\uff0c\u53ef\u80fd\u4f34\u6709\u7cbe\u795e\u8fd0\u52a8\u53d1\u80b2\u8fdf\u7f13\u3001\u9885\u9762\u5f62\u6001\u5f02\u5e38\u3001\u6307\u9aa8\u9aa8\u9abc\u5f02\u5e38\u53ca\u6ccc\u5c3f\u751f\u6b96\u7cfb\u7edf\u5f02\u5e38\u3002\u8be5\u75c5\u4e5f\u88ab\u6b27\u6d32\u7f55\u89c1\u75c5\u6570\u636e\u5e93<a href=\"https:\/\/www.orpha.net\/en\/disease\/detail\/1642\" target=\"_blank\" rel=\"noopener\">Orphanet<\/a>\u6536\u5f55\u4e3a&#8221;ORPHA:1642&#8243;\uff0c\u8db3\u89c1\u5176\u6781\u4e3a\u7f55\u89c1\u3002<\/p>\n\n\n\n<p>\u81ea1973\u5e74\u9996\u6b21\u62a5\u544a\u4ee5\u6765\uff0c\u6709\u8bba\u6587\u79f0\u5168\u7403\u5df2\u62a5\u544a150\u4f8b\u4ee5\u4e0a\uff0c\u4f46\u786e\u5207\u7684\u53d1\u75c5\u7387\u5c1a\u672a\u786e\u7acb\u3002\u591a\u6570\u75c5\u4f8b\u4e3a\u5076\u53d1\u6027\uff0c\u4e5f\u6709\u62a5\u544a\u663e\u793a\u5973\u6027\u75c5\u4f8b\u7565\u591a\uff0c\u4f46\u8fd9\u79cd\u6027\u522b\u503e\u5411\u5c1a\u672a\u5f97\u5230\u660e\u786e\u8bc1\u5b9e\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E4%B8%BB%E8%A6%81%E7%97%87%E7%8A%B6%EF%BC%88%E4%B8%89%E8%A7%92%E5%A4%B4%E7%95%B8%E5%BD%A2%E3%80%81%E9%9D%A2%E5%AE%B9%E3%80%81%E5%8F%91%E8%82%B2%E3%80%81%E5%BF%83%E8%84%8F%E5%B9%B6%E5%8F%91%E7%97%87%EF%BC%89\"><\/span><strong>2. \u4e3b\u8981\u75c7\u72b6\uff08\u4e09\u89d2\u5934\u7578\u5f62\u3001\u9762\u5bb9\u3001\u53d1\u80b2\u3001\u5fc3\u810f\u5e76\u53d1\u75c7\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u6700\u5bb9\u6613\u6210\u4e3a\u8bca\u65ad\u5951\u673a\u7684\u662f&#8221;\u4e09\u89d2\u5934\u7578\u5f62&#8221;\uff0c\u540c\u65f6\u5e38\u4f34\u6709\u7279\u5f81\u6027\u9762\u5bb9\u3001\u53d1\u80b2\u8fdf\u7f13\u53ca\u5fc3\u810f\u5e76\u53d1\u75c7\u3002<\/strong><\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%B8%89%E8%A7%92%E5%A4%B4%E7%95%B8%E5%BD%A2\"><\/span><strong>\u4e09\u89d2\u5934\u7578\u5f62<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u989d\u90e8\u4e2d\u592e\u7684&#8221;\u989d\u7f1d&#8221;\uff08\u9885\u9aa8\u63a5\u7f1d\uff09\u8fc7\u65e9\u95ed\u5408\uff0c\u5bfc\u81f4\u989d\u5934\u5448\u4e09\u89d2\u5f62\u5411\u524d\u7a81\u51fa\uff0c\u8fd9\u662f9p\u7f3a\u5931\u7efc\u5408\u5f81\u6700\u5177\u7279\u5f81\u6027\u7684\u4f53\u5f81\uff0c\u540e\u8111\u52fa\u6709\u65f6\u4e5f\u4f1a\u663e\u5f97\u6241\u5e73\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%89%B9%E5%BE%81%E6%80%A7%E9%9D%A2%E5%AE%B9\"><\/span><strong>\u7279\u5f81\u6027\u9762\u5bb9<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6839\u636eGARD\u7684\u8bb0\u8f7d\uff0c\u62a5\u544a\u7684\u7279\u5f81\u5305\u62ec\u773c\u8ddd\u589e\u5bbd\u3001\u773c\u88c2\u4e0a\u659c\u3001\u5185\u7726\u8d58\u76ae\uff08\u8986\u76d6\u5185\u773c\u89d2\u7684\u76ae\u80a4\u8936\u76b1\uff09\u3001\u62f1\u5f62\u7709\u6bdb\u3001\u9f3b\u6881\u6241\u5e73\u3001\u9f3b\u5c16\u4e0a\u7fd8\u3001\u8033\u4f4d\u4f4e\u3001\u4eba\u4e2d\uff08\u9f3b\u4e0e\u53e3\u4e4b\u95f4\u7684\u6c9f\uff09\u8f83\u957f\u3001\u4e0b\u988c\u8f83\u5c0f\u7b49\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%8F%91%E8%82%B2%E3%80%81%E6%99%BA%E5%8A%9B%E7%89%B9%E5%BE%81%E4%B8%8E%E5%BF%83%E8%84%8F%E5%B9%B6%E5%8F%91%E7%97%87\"><\/span><strong>\u53d1\u80b2\u3001\u667a\u529b\u7279\u5f81\u4e0e\u5fc3\u810f\u5e76\u53d1\u75c7<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u7cbe\u795e\u8fd0\u52a8\u53d1\u80b2\u8fdf\u7f13\u53ca\u667a\u529b\u969c\u788d\u7684\u7a0b\u5ea6\u56e0\u7f3a\u5931\u8303\u56f4\u800c\u5f02\uff0c\u8f7b\u91cd\u4e0d\u4e00\u3002\u5148\u5929\u6027\u5fc3\u810f\u5e76\u53d1\u75c7\u4e5f\u8f83\u4e3a\u5e38\u89c1\uff0c\u4e00\u9879\u9488\u5bf99p\u7f3a\u5931\u7efc\u5408\u5f81\u7684<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC9859094\/\" target=\"_blank\" rel=\"noopener\">\u610f\u5927\u5229\u591a\u4e2d\u5fc3\u7814\u7a76<\/a>\u5728\u6c47\u603b\u65e2\u5f80\u6587\u732e\u540e\u6307\u51fa\uff0c\u5fc3\u810f\u75be\u75c5\u7684\u53d1\u751f\u7387\u7ea6\u4e3a35%\u301c50%\uff0c\u5176\u4e2d\u5ba4\u95f4\u9694\u7f3a\u635f\u3001\u623f\u95f4\u9694\u7f3a\u635f\u3001\u52a8\u8109\u5bfc\u7ba1\u672a\u95ed\u8f83\u4e3a\u5e38\u89c1\u3002\u8be5\u7814\u7a76\u4e2d10\u540d\u53d7\u8bd5\u8005\u4e2d\u67092\u540d\uff0820%\uff09\u60a3\u6709\u5fc3\u810f\u75be\u75c5\uff0c3\u540d\uff0830%\uff09\u51fa\u73b0\u8f7b\u5ea6\u74e3\u819c\u53cd\u6d41\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u9aa8\u9abc\u7279\u5f81\uff1a<\/strong>\u90e8\u5206\u60a3\u8005\u624b\u6307\u9aa8\u9abc\u6709\u7279\u5f81\u6027\u8868\u73b0\uff0c\u5982\u4e2d\u8282\u6307\u9aa8\u8f83\u957f\u3001\u672b\u8282\u6307\u9aa8\u8f83\u77ed\u3002<\/li>\n\n\n\n<li><strong>\u5176\u4ed6\u5e76\u53d1\u75c7\uff1a<\/strong>\u62a5\u544a\u4e2d\u8fd8\u5305\u62ec\u5355\u8110\u52a8\u8109\u3001\u8110\u759d\u6216\u8179\u80a1\u6c9f\u759d\u3001\u5148\u5929\u6027\u7532\u72b6\u817a\u529f\u80fd\u51cf\u9000\u3001\u808c\u5f20\u529b\u4f4e\u4e0b\u3001\u810a\u67f1\u4fa7\u5f2f\u7b49\u3002<\/li>\n\n\n\n<li><strong>\u884c\u4e3a\u7279\u5f81\uff1a<\/strong>\u90e8\u5206\u62a5\u544a\u63d0\u793a\u53ef\u80fd\u6709\u7c7b\u4f3c\u81ea\u95ed\u75c7\u8c31\u7cfb\u7684\u503e\u5411\uff0c\u4f46\u5e76\u975e\u6240\u6709\u75c5\u4f8b\u90fd\u4f1a\u51fa\u73b0\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u5173\u4e8e\u667a\u529b\u969c\u788d\u53ca\u53d1\u80b2\u7279\u5f81\u7684\u6574\u4f53\u8d8b\u52bf\uff0c\u53ef\u53c2\u8003<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-intellectual-disability-traits-development\/\">NIPT\u6240\u63ed\u793a\u7684\u667a\u529b\u969c\u788d\u771f\u5b9e\u60c5\u51b5<\/a>\u4e00\u6587\uff0c\u4e86\u89e3\u67d3\u8272\u4f53\u75be\u75c5\u7684\u5171\u901a\u503e\u5411\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E5%AF%B9%E6%80%A7%E5%88%86%E5%8C%96%E7%9A%84%E5%BD%B1%E5%93%8D%EF%BC%88DMRT1%E5%9F%BA%E5%9B%A0%E4%B8%8E46XY%E6%80%A7%E5%88%86%E5%8C%96%E5%BC%82%E5%B8%B8%EF%BC%89\"><\/span><strong>3. \u5bf9\u6027\u5206\u5316\u7684\u5f71\u54cd\uff08DMRT1\u57fa\u56e0\u4e0e46,XY\u6027\u5206\u5316\u5f02\u5e38\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>9p\u7f3a\u5931\u7efc\u5408\u5f81\u7684\u53e6\u4e00\u4e2a\u91cd\u8981\u7279\u5f81\u662f\uff0c\u5373\u4fbf\u67d3\u8272\u4f53\u6027\u522b\u4e3a\u7537\u6027\uff0846,XY\uff09\uff0c\u5916\u751f\u6b96\u5668\u53ca\u777e\u4e38\u7684\u53d1\u80b2\u4e5f\u53ef\u80fd\u53d7\u5230\u5f71\u54cd\u3002<\/strong><\/p>\n\n\n\n<p>9\u53f7\u67d3\u8272\u4f53\u77ed\u81c2\u672b\u7aef\u9644\u8fd1\u7684&#8221;9p24.3&#8243;\u533a\u57df\uff0c\u5b58\u5728\u63a8\u52a8\u777e\u4e38\u5206\u5316\u7684<strong>DMRT1\u3001DMRT2<\/strong>\u57fa\u56e0\u3002\u82e5\u8be5\u533a\u57df\u88ab\u5305\u542b\u5728\u7f3a\u5931\u8303\u56f4\u5185\uff0c\u539f\u672c\u5e94\u53d1\u80b2\u4e3a\u777e\u4e38\u7684\u8fc7\u7a0b\u4fbf\u65e0\u6cd5\u987a\u5229\u8fdb\u884c\uff0c\u53ef\u80fd\u5bfc\u81f4\u5916\u751f\u6b96\u5668\u5916\u89c2\u504f\u5973\u6027\u5316\uff0c\u6216\u777e\u4e38\u53d1\u80b2\u4e0d\u5168\uff0c\u5373\u6027\u5206\u5316\u5f02\u5e38\uff08DSD\uff09\u3002GARD\u4e5f\u5c06\u9690\u777e\u3001\u5c3f\u9053\u4e0b\u88c2\u3001\u5916\u751f\u6b96\u5668\u5206\u5316\u4e0d\u5168\uff08\u5916\u751f\u6b96\u5668\u6a21\u7cca\uff09\u300146,XY\u6027\u817a\u53d1\u80b2\u4e0d\u5168\u5217\u4e3a\u8be5\u75c5\u76f8\u5173\u7684\u6ccc\u5c3f\u751f\u6b96\u7cfb\u7edf\u5f02\u5e38\u3002<\/p>\n\n\n\n<p>\u5973\u6027\uff0846,XX\uff09\u60a3\u8005\u53d7\u5230\u7684\u5f71\u54cd\u76f8\u5bf9\u8f83\u8f7b\uff0c\u6709\u65f6\u4ec5\u8868\u73b0\u4e3a\u5927\u9634\u5507\u53d1\u80b2\u4e0d\u6210\u719f\uff0c\u7a0b\u5ea6\u901a\u5e38\u4e0d\u53ca\u7537\u6027\u660e\u663e\u3002\u5305\u62ec\u524d\u8ff0\u610f\u5927\u5229\u591a\u4e2d\u5fc3\u7814\u7a76\u5728\u5185\u7684\u4e00\u4e9b\u62a5\u544a\u663e\u793a\u751f\u6b96\u5668\u5f02\u5e38\u7684\u6bd4\u4f8b\u8f83\u9ad8\uff0c\u56e0\u6b64\u5bf9\u6027\u5206\u5316\u7684\u5f71\u54cd\u662f\u7406\u89e39p\u7f3a\u5931\u7efc\u5408\u5f81\u65f6\u4e0d\u53ef\u5ffd\u89c6\u7684\u8981\u70b9\u3002\u6b64\u5916\uff0c\u82e5\u8be5\u533a\u57df\u7f3a\u5931\u4f34\u6709\u777e\u4e38\u53d1\u80b2\u4e0d\u5168\uff0c\u672a\u6765\u7f79\u60a3\u6027\u817a\u80bf\u7624\uff08\u6027\u817a\u6bcd\u7ec6\u80de\u7624\uff09\u7684\u98ce\u9669\u4e5f\u9700\u8981\u5173\u6ce8\uff0c\u5efa\u8bae\u5728\u4e13\u4e1a\u533b\u7597\u673a\u6784\u8fdb\u884c\u957f\u671f\u968f\u8bbf\u3002<\/p>\n\n\n\n<p>\u6027\u5206\u5316\u7684\u72b6\u6001\u5e76\u4e0d\u603b\u80fd\u4ec5\u51ed\u51fa\u751f\u65f6\u5916\u751f\u6b96\u5668\u7684\u5916\u89c2\u6765\u5224\u65ad\u3002\u9664\u67d3\u8272\u4f53\u68c0\u6d4b\u5916\uff0c\u8fd8\u9700\u8981\u513f\u79d1\u5185\u5206\u6ccc\u79d1\u3001\u6ccc\u5c3f\u79d1\u3001\u4e34\u5e8a\u9057\u4f20\u4e13\u79d1\u533b\u751f\u5171\u540c\u534f\u4f5c\u8bc4\u4f30\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E4%B8%8E%E5%90%8D%E7%A7%B0%E7%9B%B8%E4%BC%BC%E7%96%BE%E7%97%85%E7%9A%84%E5%8C%BA%E5%88%AB\"><\/span><strong>4. \u4e0e\u540d\u79f0\u76f8\u4f3c\u75be\u75c5\u7684\u533a\u522b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u5373\u4fbf\u540c\u6837\u5e26\u6709&#8221;9p&#8221;\u5b57\u6837\uff0c\u6839\u636e\u7f3a\u5931\u8303\u56f4\u4ee5\u53ca\u662f\u7f3a\u5931\u8fd8\u662f\u91cd\u590d\uff0c\u75c7\u72b6\u548c\u9884\u540e\u53ef\u80fd\u5b8c\u5168\u4e0d\u540c\u3002<\/strong>\u4ee5\u4e0b\u6574\u7406\u4e86\u5bb9\u6613\u6df7\u6dc6\u7684\u4e09\u79cd\u75be\u75c5\u4e4b\u95f4\u7684\u533a\u522b\u3002<\/p>\n\n\n\n<figure class=\"wp-table-block\"><table><thead><tr><th>\u6bd4\u8f83\u9879\u76ee<\/th><th>9p\u7f3a\u5931\u7efc\u5408\u5f81\uff08\u672c\u6587\uff09<\/th><th>9p13\u5fae\u5c0f\u7f3a\u5931\u7efc\u5408\u5f81<\/th><th>9p24.3\u7f3a\u5931\u7efc\u5408\u5f81<\/th><th>9p\u91cd\u590d\u7efc\u5408\u5f81\uff089p\u4e09\u4f53\uff09<\/th><\/tr><\/thead><tbody><tr><td>\u53d8\u5316\u7c7b\u578b<\/td><td>9p\u672b\u7aef\u9644\u8fd1\u7f3a\u5931<\/td><td>9p13\u9644\u8fd1\u5c40\u90e8\u7f3a\u5931<\/td><td>\u4ec59p\u672b\u7aef\uff0824.3\uff09\u5c40\u90e8\u7f3a\u5931<\/td><td>9p\u77ed\u81c2\u6570\u91cf\u589e\u591a\uff08\u91cd\u590d\uff09<\/td><\/tr><tr><td>\u7279\u5f81\u6027\u8868\u73b0<\/td><td>\u4e09\u89d2\u5934\u7578\u5f62\u3001\u6027\u5206\u5316\u5f71\u54cd<\/td><td>\u6d89\u53ca\u4e0e\u672c\u6587\u4e0d\u540c\u7684\u57fa\u56e0\u7fa4<\/td><td>\u4ee5DMRT\u57fa\u56e0\u7fa4\u5bfc\u81f4\u7684\u6027\u5206\u5316\u5f02\u5e38\u4e3a\u4e3b<\/td><td>\u53d1\u80b2\u8fdf\u6ede\u3001\u7279\u5f81\u6027\u9762\u5bb9\uff08\u4e09\u89d2\u5934\u7578\u5f62\u4e0d\u660e\u663e\uff09<\/td><\/tr><tr><td>\u5173\u7cfb<\/td><td>\u5e7f\u4e49&#8221;9p\u7f3a\u5931&#8221;\u7684\u4ee3\u8868\u7c7b\u578b<\/td><td>\u7f3a\u5931\u90e8\u4f4d\u4e0d\u540c\u7684\u53e6\u4e00\u79cd\u75be\u75c5<\/td><td>\u672c\u6587\u7f3a\u5931\u533a\u57df\u4e2d\u4ec5\u9650\u672b\u7aef\u7684\u4e9a\u578b<\/td><td>\u5e76\u975e\u7f3a\u5931\u800c\u662f\u76f8\u53cd\u7684\u91cd\u590d\u53d8\u5316<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<p>\u672c\u6587\u4ecb\u7ecd\u76849p\u7f3a\u5931\u7efc\u5408\u5f81\uff0c\u7f3a\u5931\u8303\u56f4\u76f8\u5bf9\u8f83\u5e7f\uff0c\u5927\u81f4\u4ece9p24\u5ef6\u4f38\u81f39p22\u9644\u8fd1\uff0c\u56e0\u6b64\u4f1a\u51fa\u73b0\u5305\u62ec\u4e09\u89d2\u5934\u7578\u5f62\u5728\u5185\u7684\u4e00\u6574\u5957\u7279\u5f81\u6027\u75c7\u72b6\uff0c\u5c5e\u4e8e&#8221;\u7ecf\u5178\u578b9p\u7f3a\u5931\u7efc\u5408\u5f81&#8221;\u3002\u76f8\u6bd4\u4e4b\u4e0b\uff0c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-9p24-3-deletion-syndrome\/?lang=zh-hans\">9p24.3\u7f3a\u5931\u7efc\u5408\u5f81<\/a>\u4e00\u6587\u4ecb\u7ecd\u7684\u662f\u4ec5\u9650\u4e8e\u672b\u7aef9p24.3\u533a\u57df\u7684\u5c40\u90e8\u7f3a\u5931\uff0c\u7531DMRT1\u3001DMRT2\u5f15\u8d77\u7684\u6027\u5206\u5316\u5f71\u54cd\u5f80\u5f80\u66f4\u4e3a\u7a81\u51fa\uff0c\u90e8\u5206\u75c5\u4f8b\u751a\u81f3\u4e0d\u4f34\u6709\u4e09\u89d2\u5934\u7578\u5f62\u3002\u53ef\u4ee5\u7406\u89e3\u4e3a\uff1a\u5728&#8221;9p\u7f3a\u5931&#8221;\u8fd9\u4e00\u5927\u7c7b\u4e2d\uff0c\u7f3a\u5931\u8303\u56f4\u7684\u5927\u5c0f\u51b3\u5b9a\u4e86\u5177\u4f53\u8868\u73b0\u5f62\u5f0f\u3002<\/p>\n\n\n\n<p>\u53e6\u4e00\u65b9\u9762\uff0c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/9p13-microdeletion-syndrome\/?lang=zh-hans\">9p13\u5fae\u5c0f\u7f3a\u5931\u7efc\u5408\u5f81<\/a>\u662f9p13\u9644\u8fd1\u53e6\u4e00\u533a\u57df\u7684\u5c40\u90e8\u7f3a\u5931\uff0c\u6d89\u53ca\u7684\u57fa\u56e0\u548c\u4e3b\u8981\u75c7\u72b6\u5747\u4e0e\u672c\u75c5\u4e0d\u540c\u3002\u800c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-9p-duplication-syndrome\/\">9p\u91cd\u590d\u7efc\u5408\u5f81\uff089p\u4e09\u4f53\uff09<\/a>\u4e0e9p\u7f3a\u5931\u7efc\u5408\u5f81\u76f8\u53cd\uff0c\u662f\u67d3\u8272\u4f53\u7684\u4e00\u90e8\u5206&#8221;\u6570\u91cf\u589e\u591a&#8221;\u800c\u975e\u7f3a\u5931\uff0c\u867d\u7136\u540c\u6837\u53ef\u80fd\u51fa\u73b0\u53d1\u80b2\u8fdf\u6ede\u548c\u7279\u5f81\u6027\u9762\u5bb9\uff0c\u4f46\u4e09\u89d2\u5934\u7578\u5f62\u5e76\u4e0d\u660e\u663e\uff0c\u81f4\u75c5\u673a\u5236\u672c\u8eab\u6b63\u597d\u76f8\u53cd\u3002\u8bf7\u4e0d\u8981\u4ec5\u51ed\u8bca\u65ad\u540d\u79f0\u4e2d\u90fd\u542b\u6709&#8221;9p&#8221;\u5c31\u8ba4\u4e3a\u662f\u540c\u4e00\u79cd\u75be\u75c5\uff0c\u52a1\u5fc5\u5411\u4e3b\u6cbb\u533b\u751f\u786e\u8ba4\u7a76\u7adf\u662f\u7f3a\u5931\u8fd8\u662f\u91cd\u590d\u3001\u6d89\u53ca\u54ea\u4e2a\u8303\u56f4\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"5_%E7%97%85%E5%9B%A0%E4%B8%8E%E9%81%97%E4%BC%A0%E6%96%B9%E5%BC%8F%EF%BC%88%E6%96%B0%E5%8F%91%E7%AA%81%E5%8F%98%E4%B8%8E%E5%B9%B3%E8%A1%A1%E6%98%93%E4%BD%8D%EF%BC%89\"><\/span><strong>5. \u75c5\u56e0\u4e0e\u9057\u4f20\u65b9\u5f0f\uff08\u65b0\u53d1\u7a81\u53d8\u4e0e\u5e73\u8861\u6613\u4f4d\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u591a\u6570\u75c5\u4f8b\u4e3a\u5076\u53d1\u6027\u7a81\u53d8\uff08\u65b0\u53d1\u7a81\u53d8\uff09\uff0c\u4f46\u7ea6\u4e09\u5206\u4e4b\u4e00\u6e90\u4e8e\u7236\u6bcd\u4e00\u65b9\u643a\u5e26\u5e73\u8861\u6613\u4f4d\uff0c\u8fd9\u4f1a\u5f71\u54cd\u4e0b\u4e00\u80ce\u7684\u590d\u53d1\u98ce\u9669\u3002<\/strong><\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%96%B0%E5%8F%91%E7%AA%81%E5%8F%98%EF%BC%88%E5%81%B6%E5%8F%91%E6%80%A7%E5%8F%98%E5%8C%96%EF%BC%89%E7%9A%84%E6%83%85%E5%86%B5\"><\/span><strong>\u65b0\u53d1\u7a81\u53d8\uff08\u5076\u53d1\u6027\u53d8\u5316\uff09\u7684\u60c5\u51b5<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5728\u7cbe\u5b50\u6216\u5375\u5b50\u5f62\u6210\u8fc7\u7a0b\u4e2d\uff0c\u6216\u53d7\u7cbe\u540e\u4e0d\u4e45\u7684\u7ec6\u80de\u5206\u88c2\u9636\u6bb5\uff0c\u5076\u7136\u4f1a\u53d1\u751f\u7c7b\u4f3c\u590d\u5236\u9519\u8bef\u7684\u53d8\u5316\u3002<strong>\u8fd9\u5e76\u975e\u7531\u6bcd\u4eb2\u6000\u5b55\u671f\u95f4\u7684\u996e\u98df\u6216\u751f\u6d3b\u4e60\u60ef\u5f15\u8d77\u3002<\/strong>\u60a8\u4e0d\u9700\u8981\u81ea\u8d23\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%88%B6%E6%AF%8D%E5%B9%B3%E8%A1%A1%E6%98%93%E4%BD%8D%E4%B8%8E%E5%A4%8D%E5%8F%91%E9%A3%8E%E9%99%A9\"><\/span><strong>\u7236\u6bcd\u5e73\u8861\u6613\u4f4d\u4e0e\u590d\u53d1\u98ce\u9669<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u4e00\u7bc7\u6c47\u603b9p\u7f3a\u5931\u7efc\u5408\u5f81\u75c5\u4f8b\u7684<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC3741698\/\" target=\"_blank\" rel=\"noopener\">\u8bba\u6587<\/a>\u6307\u51fa\uff0c&#8221;\u7ea6\u4e09\u5206\u4e4b\u4e8c\u4e3a\u6563\u53d1\u6027\uff08\u65b0\u53d1\u7a81\u53d8\uff09\uff0c\u5176\u4f59\u7ea6\u4e09\u5206\u4e4b\u4e00\u6e90\u4e8e\u4e0d\u5e73\u8861\u578b\u67d3\u8272\u4f53\u91cd\u6392\u7684\u5bb6\u65cf\u6027\u75c5\u4f8b&#8221;\u3002\u4e5f\u5c31\u662f\u8bf4\uff0c\u7236\u6bcd\u4e00\u65b9\u6709\u53ef\u80fd\u643a\u5e26&#8221;\u5e73\u8861\u6613\u4f4d&#8221;\u2014\u2014\u672c\u4eba\u4e0d\u4f1a\u51fa\u73b0\u75c7\u72b6\u7684\u67d3\u8272\u4f53\u91cd\u7ec4\u3002\u8fd9\u79cd\u60c5\u51b5\u4e0b\uff0c\u5144\u5f1f\u59d0\u59b9\u7684\u590d\u53d1\u98ce\u9669\u4f1a\u9ad8\u4e8e\u4e00\u822c\u6c34\u5e73\uff0c\u5efa\u8bae\u8fdb\u884c\u7236\u6bcd\u53cc\u65b9\u7684\u67d3\u8272\u4f53\u68c0\u67e5\uff08\u6838\u578b\u5206\u6790\uff09\uff0c\u4ee5\u786e\u8ba4\u662f\u65b0\u53d1\u7a81\u53d8\u8fd8\u662f\u6e90\u4e8e\u6613\u4f4d\u3002<\/p>\n\n\n\n<p>\u4e86\u89e3\u7236\u6bcd\u53cc\u65b9\u7684\u68c0\u67e5\u7ed3\u679c\uff0c\u6709\u52a9\u4e8e\u4e3a\u4e0b\u4e00\u6b21\u598a\u5a20\u505a\u597d\u89c4\u5212\u3002\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\u63d0\u4f9b\u7684\u9057\u4f20\u54a8\u8be2\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"6_%E4%B8%8E%E4%BA%A7%E5%89%8D%E8%AF%8A%E6%96%AD%E3%80%81NIPT%E7%9A%84%E5%85%B3%E7%B3%BB\"><\/span><strong>6. \u4e0e\u4ea7\u524d\u8bca\u65ad\u3001NIPT\u7684\u5173\u7cfb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>9p\u7f3a\u5931\u7efc\u5408\u5f81\u901a\u5e38\u4e0d\u5728\u57fa\u7840NIPT\u7684\u68c0\u6d4b\u8303\u56f4\u5185\uff0c\u53ea\u6709\u5728\u5c06\u68c0\u6d4b\u8303\u56f4\u6269\u5927\u81f3\u5fae\u5c0f\u7f3a\u5931\u3001\u90e8\u5206\u7f3a\u5931\u7684\u6269\u5c55\u68c0\u67e5\u4e2d\uff0c\u624d\u53ef\u80fd\u4f5c\u4e3a\u5019\u9009\u9879\u51fa\u73b0\uff0c\u4e14\u5c5e\u4e8e\u6781\u4e3a\u7f55\u89c1\u7684\u60c5\u51b5\u3002<\/strong><\/p>\n\n\n\n<p>\u5e38\u89c4\u57fa\u7840NIPT\u4e3b\u8981\u68c0\u6d4b\u7684\u662f21\u300118\u300113\u4e09\u4f53\u7b49\u67d3\u8272\u4f53&#8221;\u6570\u91cf&#8221;\u4e0a\u7684\u53d8\u5316\u3002\u800c\u50cf9p\u7f3a\u5931\u7efc\u5408\u5f81\u8fd9\u6837\u67d3\u8272\u4f53\u90e8\u5206\u7f3a\u5931\u7684&#8221;\u7ed3\u6784&#8221;\u53d8\u5316\uff0c\u5e76\u4e0d\u5728\u57fa\u7840NIPT\u7684\u68c0\u6d4b\u8303\u56f4\u5185\u3002\u56e0\u6b64\uff0c\u5373\u4fbf\u57fa\u7840NIPT\u672a\u63d0\u793a\u5f02\u5e38\uff0c\u4e5f\u4e0d\u80fd\u6392\u96649p\u7f3a\u5931\u7efc\u5408\u5f81\u7684\u53ef\u80fd\u3002<\/p>\n\n\n\n<p>\u5728\u6211\u4eec\u5e0c\u7231\u529b\uff08Hiro Clinic\uff09<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>\uff0c\u6709\u65f6\u4e5f\u4f1a\u6536\u5230&#8221;\u6269\u5c55\u68c0\u67e5\u63d0\u793a\u4e86\u4e00\u4e2a\u4ece\u672a\u542c\u8bf4\u8fc7\u7684\u533a\u57df\uff0c\u8be5\u600e\u4e48\u529e&#8221;\u8fd9\u6837\u7684\u54a8\u8be2\u3002\u9996\u5148\u8bf7\u60a8\u4e86\u89e3\uff0c<strong>NIPT\u7ec8\u7a76\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\u7684NIPT\u76f8\u5173\u6307\u5357\u4e2d\u4e5f\u660e\u786e\u6307\u51fa\uff0cNIPT\u7684\u7ed3\u679c\u5c5e\u4e8e\u7b5b\u67e5\uff08\u975e\u786e\u5b9a\u6027\uff09\u68c0\u6d4b\u7684\u8303\u7574\u3002\u786e\u8bca\u9700\u8981\u901a\u8fc7\u7f8a\u6c34\u7a7f\u523a\u8fdb\u884c\u67d3\u8272\u4f53\u5fae\u9635\u5217\u5206\u6790\uff08CMA\uff09\u3002\u6b64\u5916\uff0c\u5fae\u5c0f\u7f3a\u5931\u3001\u90e8\u5206\u7f3a\u5931\u7684\u68c0\u6d4b\u8303\u56f4\u8d8a\u5e7f\uff0c\u9633\u6027\u7ed3\u679c\u5b9e\u9645\u60a3\u75c5\u7684\u6bd4\u4f8b\uff08\u9633\u6027\u9884\u6d4b\u503c\uff09\u5f80\u5f80\u8d8a\u4f4e\uff0c\u8fd9\u4e00\u70b9\u4e5f\u662f\u5df2\u77e5\u7684\u3002<\/p>\n\n\n\n<p>\u5982\u679cNIPT\u63d0\u793a9p\u7f3a\u5931\u5448\u9633\u6027\uff0c\u901a\u5e38\u7684\u540e\u7eed\u6d41\u7a0b\u5982\u4e0b\uff1a\u9996\u5148\u901a\u8fc7\u9057\u4f20\u54a8\u8be2\u786e\u8ba4\u7ed3\u679c\u7684\u542b\u4e49\uff0c\u968f\u540e\u4e0e\u533b\u751f\u5171\u540c\u5224\u65ad\u662f\u5426\u9700\u8981\u63a5\u53d7\u7f8a\u6c34\u7a7f\u523a\u8fdb\u884cCMA\u68c0\u67e5\u3002\u5982\u679c\u6d89\u53ca\u7684\u533a\u57df\u53ef\u80fd\u4e0e\u4e09\u89d2\u5934\u7578\u5f62\u6216\u6027\u5206\u5316\u5f71\u54cd\u6709\u5173\uff0c\u63d0\u524d\u786e\u8ba4\u51fa\u751f\u540e\u9885\u9aa8\u5f62\u6001\u3001\u5185\u5206\u6ccc\u3001\u6ccc\u5c3f\u7cfb\u7edf\u7684\u968f\u8bbf\u5b89\u6392\u4e5f\u4f1a\u8ba9\u4eba\u66f4\u5b89\u5fc3\u3002\u8bf7\u4e0d\u8981\u6025\u4e8e\u4e0b\u7ed3\u8bba\uff0c\u4e0e\u4e13\u4e1a\u4eba\u5458\u4e00\u8d77\u9010\u6b65\u7406\u6e05\u601d\u8def\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"7_%E7%A1%AE%E8%AF%8A%E6%B5%81%E7%A8%8B\"><\/span><strong>7. \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\u5206\u6790\uff08CMA\uff09\uff0c\u51fa\u751f\u540e\u8fd8\u9700\u7ed3\u5408\u9885\u9aa8\u5f62\u6001\u8bc4\u4f30\u4ee5\u53ca\u5185\u5206\u6ccc\u3001\u6ccc\u5c3f\u7cfb\u7edf\u7684\u8bc4\u4f30\u3002<\/strong><\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%9F%93%E8%89%B2%E4%BD%93%E5%88%86%E6%9E%90%E4%B8%8E%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\u5206\u6790\u4e0e\u5fae\u9635\u5217\u68c0\u6d4b\uff08CMA\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5f53\u4f20\u7edf\u7684\u663e\u5fae\u955c\u67d3\u8272\u4f53\u68c0\u67e5\uff08G\u663e\u5e26\u6cd5\uff09\u63d0\u793a\u672b\u7aef\u7f3a\u5931\uff08terminal deletion\uff09\u65f6\uff0c\u901a\u8fc7\u66f4\u7cbe\u5bc6\u7684CMA\u6216FISH\u6280\u672f\uff0c\u53ef\u4ee5\u8be6\u7ec6\u4e86\u89e3\u7f3a\u5931\u7684\u5177\u4f53\u8303\u56f4\uff0c\u4ee5\u53ca\u662f\u5426\u5305\u542bDMRT1\u7b49\u57fa\u56e0\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%88%B6%E6%AF%8D%E6%9F%93%E8%89%B2%E4%BD%93%E6%A3%80%E6%9F%A5\"><\/span><strong>\u7236\u6bcd\u67d3\u8272\u4f53\u68c0\u67e5<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u540c\u65f6\u68c0\u67e5\u7236\u6bcd\u53cc\u65b9\u7684\u8840\u6db2\uff0c\u53ef\u4ee5\u5224\u65ad\u7f3a\u5931\u662f\u65b0\u53d1\u7a81\u53d8\u8fd8\u662f\u6e90\u4e8e\u5e73\u8861\u6613\u4f4d\uff0c\u8fd9\u662f\u5224\u65ad\u4e0b\u4e00\u80ce\u590d\u53d1\u98ce\u9669\u7684\u91cd\u8981\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%E7%9A%84%E8%AF%84%E4%BC%B0\"><\/span><strong>\u51fa\u751f\u540e\u7684\u8bc4\u4f30<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u786e\u8bca\u540e\uff0c\u901a\u5e38\u4f1a\u7ed3\u5408\u9885\u9aa8\u5f62\u6001\u8bc4\u4f30\uff08\u4e09\u89d2\u5934\u7578\u5f62\u7684\u7a0b\u5ea6\uff09\u3001\u5fc3\u810f\u8d85\u58f0\u68c0\u67e5\u3001\u53d1\u80b2\u68c0\u67e5\uff0c\u82e5\u6000\u7591\u5b58\u5728\u6027\u5206\u5316\u5f71\u54cd\uff0c\u8fd8\u4f1a\u8054\u5408\u513f\u79d1\u5185\u5206\u6ccc\u79d1\u3001\u6ccc\u5c3f\u79d1\u8fdb\u884c\u8bc4\u4f30\uff0c\u7efc\u5408\u638c\u63e1\u5b9d\u5b9d\u7684\u6574\u4f53\u72b6\u51b5\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%B2%BB%E7%96%97\"><\/span><strong>\u6cbb\u7597<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u76ee\u524d\u5c1a\u65e0\u80fd\u591f\u6062\u590d\u7f3a\u5931\u67d3\u8272\u4f53\u7247\u6bb5\u7684\u6839\u672c\u6027\u6cbb\u7597\u65b9\u6cd5\uff0c\u4f46\u901a\u8fc7\u53d1\u80b2\u652f\u6301\u3001\u5fc3\u810f\u533b\u7597\u7ba1\u7406\u53ca\u6027\u5206\u5316\u76f8\u5173\u5e94\u5bf9\u76f8\u7ed3\u5408\uff0c\u53ef\u4ee5\u652f\u6301\u5b69\u5b50\u5065\u5eb7\u6210\u957f\u3002<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u53d1\u80b2\u652f\u6301\u4e0e\u5eb7\u590d\u8bad\u7ec3\uff1a<\/strong>\u901a\u8fc7\u7406\u5b66\u7597\u6cd5\uff08PT\uff09\u3001\u4f5c\u4e1a\u7597\u6cd5\uff08OT\uff09\u3001\u8bed\u8a00\u542c\u89c9\u7597\u6cd5\uff08ST\uff09\u7b49\u65b9\u5f0f\u652f\u6301\u53d1\u80b2\u3002<\/li>\n\n\n\n<li><strong>\u9885\u9aa8\u8bc4\u4f30\u4e0e\u5916\u79d1\u5e94\u5bf9\uff1a<\/strong>\u6839\u636e\u4e09\u89d2\u5934\u7578\u5f62\u7684\u7a0b\u5ea6\uff0c\u6709\u65f6\u4f1a\u8003\u8651\u8fdb\u884c\u9885\u9aa8\u6210\u5f62\u624b\u672f\uff0c\u4ee5\u786e\u4fdd\u5927\u8111\u53d1\u80b2\u6240\u9700\u7a7a\u95f4\u3002<\/li>\n\n\n\n<li><strong>\u5fc3\u810f\u533b\u7597\u7ba1\u7406\uff1a<\/strong>\u82e5\u5408\u5e76\u5ba4\u95f4\u9694\u7f3a\u635f\u7b49\u5148\u5929\u6027\u5fc3\u810f\u75be\u75c5\uff0c\u5c06\u7531\u5c0f\u513f\u5faa\u73af\u79d1\u4e13\u79d1\u533b\u751f\u8fdb\u884c\u968f\u8bbf\u89c2\u5bdf\u53ca\u5fc5\u8981\u7684\u6cbb\u7597\u3002<\/li>\n\n\n\n<li><strong>\u6027\u5206\u5316\u76f8\u5173\u5e94\u5bf9\uff1a<\/strong>\u82e5\u6000\u7591\u5b58\u5728\u6027\u5206\u5316\u5f02\u5e38\uff08DSD\uff09\uff0c\u5c06\u7531\u513f\u79d1\u5185\u5206\u6ccc\u79d1\u3001\u6ccc\u5c3f\u79d1\u3001\u4e34\u5e8a\u9057\u4f20\u4e13\u79d1\u533b\u751f\u7ec4\u6210\u7684\u56e2\u961f\uff0c\u5728\u5c0a\u91cd\u5b69\u5b50\u53ca\u5bb6\u4eba\u610f\u613f\u7684\u57fa\u7840\u4e0a\u5171\u540c\u5546\u8ba8\u65b9\u6848\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u7531\u4e8e\u6bcf\u4e2a\u4eba\u7684\u75c7\u72b6\u7ec4\u5408\u53ca\u4e25\u91cd\u7a0b\u5ea6\u90fd\u4e0d\u76f8\u540c\uff0c\u5e76\u4e0d\u5b58\u5728&#8221;\u60a3\u6b64\u75c5\u5fc5\u5b9a\u5982\u6b64&#8221;\u7684\u56fa\u5b9a\u75c5\u7a0b\u3002\u9700\u8981\u4e0e\u4e3b\u6cbb\u513f\u79d1\u533b\u751f\u3001\u5c0f\u513f\u5916\u79d1\u533b\u751f\u53ca\u5eb7\u590d\u56e2\u961f\u6c9f\u901a\u534f\u4f5c\uff0c\u4e3a\u5b69\u5b50\u9010\u6b65\u5236\u5b9a\u4e13\u5c5e\u7684\u652f\u6301\u65b9\u6848\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%A2%84%E5%90%8E\"><\/span><strong>\u9884\u540e<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u4ece\u53d1\u80b2\u8fdf\u7f13\u8f83\u8f7b\u5230\u9700\u8981\u957f\u671f\u652f\u6301\u7684\u60c5\u51b5\u90fd\u5b58\u5728\uff0c\u662f\u5426\u5408\u5e76\u5fc3\u810f\u75be\u75c5\u4ee5\u53ca\u80fd\u5426\u5c3d\u65e9\u5f00\u5c55\u5eb7\u590d\u8bad\u7ec3\uff0c\u4f1a\u5f71\u54cd\u751f\u6d3b\u8d28\u91cf\u3002<\/strong><\/p>\n\n\n\n<p>\u901a\u8fc7\u9002\u5f53\u7684\u652f\u6301\u4e0e\u533b\u7597\u7ba1\u7406\uff0c\u751f\u6d3b\u8d28\u91cf\u6709\u671b\u5f97\u5230\u63d0\u5347\uff0c\u4f46\u9884\u540e\u4f1a\u56e0\u7f3a\u5931\u8303\u56f4\u3001\u662f\u5426\u5408\u5e76\u5fc3\u810f\u6216\u6027\u5206\u5316\u65b9\u9762\u7684\u5f71\u54cd\u3001\u662f\u5426\u5b58\u5728\u5176\u4ed6\u5e76\u53d1\u75c7\u800c\u5b58\u5728\u4e2a\u4f53\u5dee\u5f02\u3002\u5c3d\u65e9\u5f00\u59cb\u53d1\u80b2\u652f\u6301\uff0c\u5e76\u5b9a\u671f\u786e\u8ba4\u5fc3\u810f\u53ca\u5185\u5206\u6ccc\u72b6\u51b5\uff0c\u6709\u52a9\u4e8e\u5b69\u5b50\u7684\u957f\u671f\u5065\u5eb7\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%88%B6%E6%AF%8D%E7%9A%84%E8%B4%9F%E6%8B%85%E4%B8%8E%E5%AE%B6%E5%BA%AD%E6%94%AF%E6%8C%81\"><\/span><strong>\u7236\u6bcd\u7684\u8d1f\u62c5\u4e0e\u5bb6\u5ead\u652f\u6301<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u7531\u4e8e\u5f80\u5f80\u9700\u8981\u957f\u671f\u7684\u5eb7\u590d\u8bad\u7ec3\u4e0e\u533b\u7597\u7ba1\u7406\uff0c\u5bb6\u5ead\u5728\u7ecf\u6d4e\u548c\u5fc3\u7406\u4e0a\u5e38\u9762\u4e34\u8f83\u5927\u8d1f\u62c5\uff0c\u80fd\u591f\u4f9d\u9760\u7684\u4e13\u4e1a\u673a\u6784\u4e0e\u652f\u6301\u7f51\u7edc\u4f1a\u6210\u4e3a\u91cd\u8981\u652f\u6491\u3002<\/strong><\/p>\n\n\n\n<p>\u5728\u8eab\u8fb9\u627e\u5230\u60a3\u6709\u540c\u79cd\u7f55\u89c1\u75c5\u7684\u5bb6\u5ead\u6216\u8bb8\u5e76\u4e0d\u5bb9\u6613\uff0c\u4f46\u67d3\u8272\u4f53\u7f55\u89c1\u75c5\u60a3\u513f\u5bb6\u5ead\u4e4b\u95f4\u7684\u8054\u7cfb\uff0c\u4ee5\u53ca\u9057\u4f20\u54a8\u8be2\u63d0\u4f9b\u7684\u4e13\u4e1a\u652f\u6301\uff0c\u90fd\u662f\u53ef\u4ee5\u5584\u7528\u7684\u8d44\u6e90\u3002\u5c24\u5176\u5728\u5b58\u5728\u6027\u5206\u5316\u5f71\u54cd\u7684\u60c5\u51b5\u4e0b\uff0c\u9664\u8eab\u4f53\u65b9\u9762\u7684\u62a4\u7406\u5916\uff0c\u957f\u671f\u7684\u5fc3\u7406\u966a\u4f34\u4e5f\u5341\u5206\u91cd\u8981\u3002\u533b\u7597\u65b9\u9762\u7684\u7ba1\u7406\u53ef\u4ee5\u4ea4\u7ed9\u533b\u751f\u548c\u5eb7\u590d\u56e2\u961f\uff0c\u800c\u5bb6\u4eba\u7684\u89d2\u8272\uff0c\u662f\u4e0e\u5b69\u5b50\u4e00\u8d77\u4e3a\u773c\u524d\u6bcf\u4e00\u70b9\u5c0f\u5c0f\u7684\u6210\u957f\u800c\u9ad8\u5174\u3002\u4e0e\u5730\u533a\u652f\u6301\u8d44\u6e90\u53ca\u4e13\u4e1a\u533b\u7597\u673a\u6784\u643a\u624b\uff0c\u5efa\u7acb\u652f\u6301\u4f53\u7cfb\u4e5f\u5341\u5206\u5173\u952e\u3002<\/p>\n\n\n\n<p>\u5982\u679c\u60a8\u4e5f\u5173\u5fc3\u5176\u4ed6\u5fae\u5c0f\u7f3a\u5931\u7efc\u5408\u5f81\uff0c\u6b22\u8fce\u53c2\u8003\u4ee5\u4e0b\u6587\u7ae0\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/13q14-deletion-syndrome\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">13q14\u6b20\u5931\u75c7\u5019\u7fa4 <\/div>\n          <div class=\"blog-card-excerpt\">13q14\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u300113\u756a\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u6b20\u5931\u3059\u308b\u3053\u3068\u3067\u767a\u751f\u3059\u308b\u7a00\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002\u767a\u9054\u9045\u5ef6\u3084\u77e5\u7684\u969c\u5bb3\u3001\u5185\u81d3\u7570\u5e38\u304c\u7279\u5fb4\u3067\u3001\u6cbb\u7642\u6cd5\u3084\u5bb6\u65cf\u652f\u63f4...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n    <a href=\"\/nipt\/xp22-31-microdeletion-syndrome\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">Xp22.31\u5fae\u5c0f\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u306f\uff5cSTS\u907a\u4f1d\u5b50\u6b20\u5931\u3068X\u9023\u9396\u6027\u9b5a\u9c57\u766c\u30fbNIPT\u3068\u306e\u95a2\u4fc2 <\/div>\n          <div class=\"blog-card-excerpt\">Xp22.31\u9818\u57df\u306b\u542b\u307e\u308c\u308bANOS1\u3084STS\u907a\u4f1d\u5b50\u306b\u95a2\u9023\u3059\u308b\u75be\u60a3\u306e\u6982\u8981\u3001\u7279\u306b\u30ab\u30fc\u30eb\u30de\u30f3\u75c7\u5019\u7fa4\u3084GnRH\u6b20\u640d\u75c7\uff08IGD\uff09\u306e\u75c7\u72b6\u3001\u8a3a\u65ad\u65b9\u6cd5\u3001\u6cbb...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n    <a href=\"\/nipt\/chromosome-9p24-3-deletion-syndrome\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">9p24.3 \u6b20\u5931\u75c7\u5019\u7fa4\uff089p24.3 Deletion Syndrome\uff09 <\/div>\n          <div class=\"blog-card-excerpt\">...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<p>\u5982\u679c\u60a8\u5bf9\u5fae\u5c0f\u7f3a\u5931\u6574\u4f53\u60c5\u51b5\u611f\u5230\u62c5\u5fc3\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\u9690\u533f\u6027\u969c\u788d\u98ce\u9669<\/a>\u4e00\u6587\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\u4e3a\u4e0b\u4e00\u80ce\u8003\u8651NIPT\u68c0\u6d4b\uff0c\u65b9\u6848\u5185\u5bb9\u4f1a\u56e0\u662f\u5426\u5c06\u5fae\u5c0f\u7f3a\u5931\u3001\u90e8\u5206\u7f3a\u5931\u7eb3\u5165\u68c0\u6d4b\u8303\u56f4\u800c\u6709\u6240\u4e0d\u540c\u3002\u5982\u679c\u4e0d\u6e05\u695a\u9002\u5408\u81ea\u5df1\u7684\u65b9\u6848\uff0c\u6b22\u8fce\u8bd5\u7528<strong><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/plan-finder\/?lang=en\">\u65b9\u6848\u8bca\u65ad\uff08\u30d7\u30e9\u30f3\u8a3a\u65ad\uff09<\/a><\/strong>\u3002\u4e5f\u53ef\u4ee5\u901a\u8fc7\u7535\u8bdd\u54a8\u8be2\uff0c\u6b22\u8fce\u62e8\u6253<a href=\"tel:0120169629\">0120-169-629<\/a>\u3002<\/p>\n\n\n\n<div class=\"wp-block-buttons is-content-justification-center is-layout-flex wp-container-core-buttons-is-layout-16018d1d wp-block-buttons-is-layout-flex\">\n<div class=\"wp-block-button\"><a class=\"wp-block-button__link wp-element-button\" href=\"https:\/\/mypage-nipt-reservation.hiro-clinic.or.jp\/registration\" target=\"_blank\" rel=\"noopener\">\u9884\u7ea6NIPT\u68c0\u6d4b<\/a><\/div>\n\n\n\n<div class=\"wp-block-button is-style-outline is-style-outline--1\"><a class=\"wp-block-button__link wp-element-button\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/plan-finder\/?lang=en\" target=\"_blank\" rel=\"noopener\">\u901a\u8fc7\u65b9\u6848\u8bca\u65ad\u5bfb\u627e\u9002\u5408\u81ea\u5df1\u7684\u68c0\u6d4b<\/a><\/div>\n<\/div>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%B8%B8%E8%A7%81%E9%97%AE%E9%A2%98\"><\/span><strong>\u5e38\u89c1\u95ee\u9898<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"9p%E7%BC%BA%E5%A4%B1%E7%BB%BC%E5%90%88%E5%BE%81%E4%B8%8E%E2%80%9D9p13%E5%BE%AE%E5%B0%8F%E7%BC%BA%E5%A4%B1%E7%BB%BC%E5%90%88%E5%BE%81%E2%80%9D%E2%80%9D9p243%E7%BC%BA%E5%A4%B1%E7%BB%BC%E5%90%88%E5%BE%81%E2%80%9D%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>9p\u7f3a\u5931\u7efc\u5408\u5f81\u4e0e&#8221;9p13\u5fae\u5c0f\u7f3a\u5931\u7efc\u5408\u5f81&#8221;&#8221;9p24.3\u7f3a\u5931\u7efc\u5408\u5f81&#8221;\u662f\u540c\u4e00\u79cd\u75be\u75c5\u5417\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5e76\u975e\u540c\u4e00\u79cd\u75be\u75c5\uff0c\u800c\u662f\u5206\u522b\u5f52\u7c7b\u4e3a\u4e0d\u540c\u75be\u75c5\uff0c\u6216\u7f3a\u5931\u8303\u56f4\u4e0d\u540c\u7684\u4e9a\u578b\u3002\u672c\u6587\u4ecb\u7ecd\u76849p\u7f3a\u5931\u7efc\u5408\u5f81\u662f\u7f3a\u5931\u8303\u56f4\u8f83\u5e7f\u3001\u4ee5\u4e09\u89d2\u5934\u7578\u5f62\u4e3a\u7279\u5f81\u7684&#8221;\u7ecf\u5178\u578b&#8221;\u30029p13\u5fae\u5c0f\u7f3a\u5931\u7efc\u5408\u5f81\u662f\u53e6\u4e00\u533a\u57df\u7684\u5c40\u90e8\u7f3a\u5931\uff0c9p24.3\u7f3a\u5931\u7efc\u5408\u5f81\u5219\u5c40\u9650\u4e8e\u672b\u7aef\u6781\u5c0f\u8303\u56f4\uff0c\u4ee5DMRT1\u5f15\u8d77\u7684\u6027\u5206\u5316\u5f71\u54cd\u4e3a\u4e3b\uff0c\u8fd9\u4e9b\u5747\u4e0e\u672c\u75c5\u4e0d\u540c\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"9p%E7%BC%BA%E5%A4%B1%E7%BB%BC%E5%90%88%E5%BE%81%E4%B8%8E%E2%80%9D9p%E9%87%8D%E5%A4%8D%E7%BB%BC%E5%90%88%E5%BE%81%EF%BC%889p%E4%B8%89%E4%BD%93%EF%BC%89%E2%80%9D%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>9p\u7f3a\u5931\u7efc\u5408\u5f81\u4e0e&#8221;9p\u91cd\u590d\u7efc\u5408\u5f81\uff089p\u4e09\u4f53\uff09&#8221;\u662f\u540c\u4e00\u79cd\u75be\u75c5\u5417\uff1f<span 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