{"id":84337,"date":"2024-11-15T15:52:39","date_gmt":"2024-11-15T06:52:39","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/15q26-qter-deletion-syndrome\/"},"modified":"2026-07-12T21:22:09","modified_gmt":"2026-07-12T12:22:09","slug":"15q26-qter-deletion-syndrome","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/15q26-qter-deletion-syndrome\/?lang=zh-hans","title":{"rendered":"15q26-qter 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>\uff08\u65e0\u521b\u4ea7\u524d\u68c0\u6d4b\uff09\u7684\u5173\u7cfb\u3001\u786e\u8bca\u6d41\u7a0b\uff0c\u76f4\u81f3\u6cbb\u7597\u524d\u666f\uff0c\u5185\u5bb9\u4f9d\u636eGARD\u3001Orphanet\u53ca\u5b66\u672f\u8bba\u6587\u7b49\u516c\u5171\u673a\u6784\u4e0e\u5b66\u672f\u8d44\u6599\u64b0\u5199\u3002\u8ba9\u6211\u4eec\u9010\u4e00\u51b7\u9759\u5730\u4e86\u89e3\u4e00\u4e0b\u3002<\/p>\n\n\n\n<div class=\"info-box\" style=\"margin:1.5em 0;padding:1.2em 1.4em;background:#f3f8ff;border-left:5px solid #5b9bd5;border-radius:8px;\">\n<p style=\"font-weight:bold;margin-bottom:0.6em;\">\ud83d\udca1 \u672c\u6587\u8981\u70b9<\/p>\n<ul style=\"margin:0;padding-left:1.2em;\">\n<li>15q26-qter\u7f3a\u5931\u7efc\u5408\u5f81\u662f\u600e\u6837\u7684\u67d3\u8272\u4f53\u53d8\u5316\uff08\u5305\u62ec&#8221;qter&#8221;\u7684\u542b\u4e49\uff09<\/li>\n<li>\u4e0e\u540c\u5c5e15q26\u533a\u57df\u7684&#8221;\u8fc7\u5ea6\u751f\u957f\u7efc\u5408\u5f81&#8221;\u53ca\u666e\u62c9\u5fb7-\u5a01\u5229\u7efc\u5408\u5f81\u7684\u533a\u522b<\/li>\n<li>\u4e3a\u4f55\u7f3a\u5931\u8303\u56f4\u4e0d\u540c\u4f1a\u5bfc\u81f4\u75c7\u72b6\u8f7b\u91cd\u4e0d\u540c<\/li>\n<li>\u9057\u4f20\u65b9\u5f0f\uff08\u65b0\u53d1\u7a81\u53d8\u4e0e\u5bb6\u65cf\u5185\u9057\u4f20\uff09\u53ca\u5bf9\u4e0b\u4e00\u80ce\u7684\u5f71\u54cd<\/li>\n<li>\u4ea7\u524d\u8bca\u65ad\u30fbNIPT\u662f\u5426\u80fd\u68c0\u51fa\u8be5\u75be\u75c5<\/li>\n<li>\u786e\u8bca\u540e\u7684\u6cbb\u7597\u65b9\u9488\u30fb\u8003\u8651\u751f\u957f\u6fc0\u7d20\u6cbb\u7597\u7684\u65f6\u673a\uff0c\u4ee5\u53ca\u65e5\u5e38\u751f\u6d3b\u4e2d\u7684\u5e94\u5bf9\u65b9\u6cd5<\/li>\n<\/ul>\n<\/div>\n\n\n\n\n\n\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_85 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">\u76ee\u6b21<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" 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ez-toc-heading-2\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/15q26-qter-deletion-syndrome\/?lang=zh-hans\/#2_%E4%B8%8E%E5%90%8D%E7%A7%B0%E7%9B%B8%E4%BC%BC%E7%96%BE%E7%97%85%E7%9A%84%E5%8C%BA%E5%88%AB%EF%BC%88%E5%AE%B9%E6%98%93%E6%B7%B7%E6%B7%86%E7%9A%843%E7%A7%8D%E7%97%85%E5%90%8D%EF%BC%89\" >2. \u4e0e\u540d\u79f0\u76f8\u4f3c\u75be\u75c5\u7684\u533a\u522b\uff08\u5bb9\u6613\u6df7\u6dc6\u76843\u79cd\u75c5\u540d\uff09<\/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\/15q26-qter-deletion-syndrome\/?lang=zh-hans\/#3_%E4%B8%BB%E8%A6%81%E7%97%87%E7%8A%B6%EF%BC%88%E8%BD%BB%E9%87%8D%E7%A8%8B%E5%BA%A6%E5%9B%A0%E7%BC%BA%E5%A4%B1%E8%8C%83%E5%9B%B4%E8%80%8C%E5%BC%82%EF%BC%89\" >3. \u4e3b\u8981\u75c7\u72b6\uff08\u8f7b\u91cd\u7a0b\u5ea6\u56e0\u7f3a\u5931\u8303\u56f4\u800c\u5f02\uff09<\/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\/15q26-qter-deletion-syndrome\/?lang=zh-hans\/#4_%E7%97%85%E5%9B%A0%E4%B8%8E%E9%81%97%E4%BC%A0%E6%96%B9%E5%BC%8F%EF%BC%88%E6%96%B0%E5%8F%91%E7%AA%81%E5%8F%98%E4%B8%8E%E5%AE%B6%E6%97%8F%E5%86%85%E9%81%97%E4%BC%A0%EF%BC%89\" >4. \u75c5\u56e0\u4e0e\u9057\u4f20\u65b9\u5f0f\uff08\u65b0\u53d1\u7a81\u53d8\u4e0e\u5bb6\u65cf\u5185\u9057\u4f20\uff09<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/15q26-qter-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-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/15q26-qter-deletion-syndrome\/?lang=zh-hans\/#%E5%AE%B6%E6%97%8F%E5%86%85%E9%81%97%E4%BC%A0%E7%9A%84%E6%83%85%E5%86%B5\" >\u5bb6\u65cf\u5185\u9057\u4f20\u7684\u60c5\u51b5<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/15q26-qter-deletion-syndrome\/?lang=zh-hans\/#%E7%8E%AF%E7%8A%B6%E6%9F%93%E8%89%B2%E4%BD%93%EF%BC%88Ring_15%EF%BC%89%E5%AF%BC%E8%87%B4%E7%9A%84%E6%83%85%E5%86%B5\" >\u73af\u72b6\u67d3\u8272\u4f53\uff08Ring 15\uff09\u5bfc\u81f4\u7684\u60c5\u51b5<\/a><\/li><\/ul><\/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\/15q26-qter-deletion-syndrome\/?lang=zh-hans\/#5_%E4%B8%8E%E4%BA%A7%E5%89%8D%E8%AF%8A%E6%96%AD%E3%83%BBNIPT%E7%9A%84%E5%85%B3%E7%B3%BB\" >5. \u4e0e\u4ea7\u524d\u8bca\u65ad\u30fbNIPT\u7684\u5173\u7cfb<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/15q26-qter-deletion-syndrome\/?lang=zh-hans\/#6_%E7%A1%AE%E8%AF%8A%E5%89%8D%E7%9A%84%E6%B5%81%E7%A8%8B\" >6. \u786e\u8bca\u524d\u7684\u6d41\u7a0b<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/15q26-qter-deletion-syndrome\/?lang=zh-hans\/#%E6%9F%93%E8%89%B2%E4%BD%93%E5%BE%AE%E9%98%B5%E5%88%97%E6%A3%80%E6%9F%A5%EF%BC%88CMA%EF%BC%89\" >\u67d3\u8272\u4f53\u5fae\u9635\u5217\u68c0\u67e5\uff08CMA\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/15q26-qter-deletion-syndrome\/?lang=zh-hans\/#%E7%88%B6%E6%AF%8D%E5%8F%8C%E6%96%B9%E7%9A%84%E6%A3%80%E6%9F%A5\" >\u7236\u6bcd\u53cc\u65b9\u7684\u68c0\u67e5<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-12\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/15q26-qter-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-13\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/15q26-qter-deletion-syndrome\/?lang=zh-hans\/#7_%E6%B2%BB%E7%96%97%E4%B8%8E%E6%94%AF%E6%8C%81\" >7. \u6cbb\u7597\u4e0e\u652f\u6301<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/15q26-qter-deletion-syndrome\/?lang=zh-hans\/#%E8%80%83%E8%99%91%E7%94%9F%E9%95%BF%E6%BF%80%E7%B4%A0%E6%B2%BB%E7%96%97%E7%9A%84%E6%97%B6%E6%9C%BA\" >\u8003\u8651\u751f\u957f\u6fc0\u7d20\u6cbb\u7597\u7684\u65f6\u673a<\/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\/15q26-qter-deletion-syndrome\/?lang=zh-hans\/#%E8%90%A5%E5%85%BB%E6%96%B9%E9%9D%A2%E7%9A%84%E5%BA%94%E5%AF%B9\" >\u8425\u517b\u65b9\u9762\u7684\u5e94\u5bf9<\/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\/15q26-qter-deletion-syndrome\/?lang=zh-hans\/#8_%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\" >8. \u65e5\u5e38\u751f\u6d3b\u4e2d\u7684\u5e94\u5bf9\u65b9\u6cd5<\/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\/15q26-qter-deletion-syndrome\/?lang=zh-hans\/#9_%E9%A2%84%E5%90%8E%E4%B8%8E%E5%B1%95%E6%9C%9B\" >9. \u9884\u540e\u4e0e\u5c55\u671b<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-18\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/15q26-qter-deletion-syndrome\/?lang=zh-hans\/#10_%E5%AF%B9%E5%AE%B6%E5%BA%AD%E7%9A%84%E6%94%AF%E6%8C%81%EF%BC%8C%E4%BB%A5%E5%8F%8A%E8%80%83%E8%99%91%E4%B8%8B%E4%B8%80%E8%83%8E%E6%97%B6\" >10. \u5bf9\u5bb6\u5ead\u7684\u652f\u6301\uff0c\u4ee5\u53ca\u8003\u8651\u4e0b\u4e00\u80ce\u65f6<\/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\/15q26-qter-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\/15q26-qter-deletion-syndrome\/?lang=zh-hans\/#%E2%80%9Cqter%E2%80%9D%E6%98%AF%E4%BB%80%E4%B9%88%E6%84%8F%E6%80%9D%EF%BC%9F\" >&#8220;qter&#8221;\u662f\u4ec0\u4e48\u610f\u601d\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\/15q26-qter-deletion-syndrome\/?lang=zh-hans\/#%E7%94%9F%E9%95%BF%E6%BF%80%E7%B4%A0%E6%B2%BB%E7%96%97%E4%BB%8E%E4%BB%80%E4%B9%88%E6%97%B6%E5%80%99%E5%8F%AF%E4%BB%A5%E5%BC%80%E5%A7%8B%EF%BC%9F\" >\u751f\u957f\u6fc0\u7d20\u6cbb\u7597\u4ece\u4ec0\u4e48\u65f6\u5019\u53ef\u4ee5\u5f00\u59cb\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\/15q26-qter-deletion-syndrome\/?lang=zh-hans\/#%E4%B8%8E%E2%80%9D15q26%E8%BF%87%E5%BA%A6%E7%94%9F%E9%95%BF%E7%BB%BC%E5%90%88%E5%BE%81%E2%80%9D%E6%9C%89%E5%85%B3%E7%B3%BB%E5%90%97%EF%BC%9F\" >\u4e0e&#8221;15q26\u8fc7\u5ea6\u751f\u957f\u7efc\u5408\u5f81&#8221;\u6709\u5173\u7cfb\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\/15q26-qter-deletion-syndrome\/?lang=zh-hans\/#NIPT%E8%83%BD%E6%A3%80%E5%87%BA15q26-qter%E5%8C%BA%E5%9F%9F%E7%9A%84%E7%BC%BA%E5%A4%B1%E5%90%97%EF%BC%9F\" >NIPT\u80fd\u68c0\u51fa15q26-qter\u533a\u57df\u7684\u7f3a\u5931\u5417\uff1f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-24\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/15q26-qter-deletion-syndrome\/?lang=zh-hans\/#%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\" >\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\/15q26-qter-deletion-syndrome\/?lang=zh-hans\/#%E7%94%9F%E9%95%BF%E6%BF%80%E7%B4%A0%E6%B2%BB%E7%96%97%E6%9C%89%E6%95%88%E6%9E%9C%E5%90%97%EF%BC%9F\" >\u751f\u957f\u6fc0\u7d20\u6cbb\u7597\u6709\u6548\u679c\u5417\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%AF15q26-qter%E7%BC%BA%E5%A4%B1%E7%BB%BC%E5%90%88%E5%BE%81%EF%BC%88%E8%87%B4%E7%97%85%E7%9A%84%E6%9F%93%E8%89%B2%E4%BD%93%E5%8F%98%E5%8C%96%EF%BC%89\"><\/span><strong>1. \u4ec0\u4e48\u662f15q26-qter\u7f3a\u5931\u7efc\u5408\u5f81\uff08\u81f4\u75c5\u7684\u67d3\u8272\u4f53\u53d8\u5316\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u8fd9\u79cd\u75be\u75c5\u662f\u630715\u53f7\u67d3\u8272\u4f53\u957f\u81c226\u533a\u57df\u5185\u67d0\u5904\u4e00\u76f4\u5230\u672b\u7aef\uff08\u7aef\u7c92\u4fa7\uff09\u7684\u533a\u57df\uff0c\u4ece\u51fa\u751f\u65f6\u5c31\u5df2\u7ecf\u7f3a\u5931\u7684\u72b6\u6001\u3002<\/strong>&#8220;qter&#8221;\u662f\u67d3\u8272\u4f53\u56fe\u8c31\u672f\u8bed\uff0c\u6307\u957f\u81c2\uff08q\uff09\u7684\u672b\u7aef\uff08terminus\uff09\u3002\u4e5f\u5c31\u662f\u8bf4\uff0c\u75c5\u540d&#8221;15q26-qter&#8221;\u8868\u793a&#8221;\u4ece15\u53f7\u67d3\u8272\u4f53\u957f\u81c226\u9644\u8fd1\u5230\u672b\u7aef\u8fde\u7eed\u7f3a\u5931&#8221;\u8fd9\u4e00\u72b6\u6001\u3002<\/p>\n\n\n\n<p>\u7f3a\u5931\u533a\u57df\u7684\u5927\u5c0f\u56e0\u75c5\u4f8b\u800c\u5f02\u3002\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\/16572\/chromosome-15q26-qter-deletion-syndrome\" target=\"_blank\" rel=\"noopener\">GARD\uff08Genetic and Rare Diseases Information Center\uff09<\/a>\u5c06\u5176\u63cf\u8ff0\u4e3a\u4ee5\u5b55\u671f\u53ca\u51fa\u751f\u540e\u751f\u957f\u969c\u788d\u3001\u53d1\u80b2\u8fdf\u7f13\u3001\u667a\u529b\u969c\u788d\u4e3a\u7279\u5f81\u7684\u7f55\u89c1\u67d3\u8272\u4f53\u5f02\u5e38\u7efc\u5408\u5f81\u3002\u6b27\u6d32\u7f55\u89c1\u75c5\u6570\u636e\u5e93<a href=\"https:\/\/www.orpha.net\/en\/disease\/detail\/1596\" target=\"_blank\" rel=\"noopener\">Orphanet\uff08ORPHA:1596\uff0cDistal deletion 15q\uff09<\/a>\u5c06\u5176\u60a3\u75c5\u7387\u5217\u4e3a&#8221;\u4e0d\u8db3\u767e\u4e07\u5206\u4e4b\u4e00&#8221;\uff0c\u53ef\u89c1\u8fd9\u662f\u4e00\u79cd\u6781\u5176\u7f55\u89c1\u7684\u75be\u75c5\u3002<\/p>\n\n\n\n<p>\u636e2021\u5e74\u53d1\u8868\u7684<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC8447573\/\" target=\"_blank\" rel=\"noopener\">\u75c5\u4f8b\u62a5\u544a<\/a>\uff0c\u8be5\u533a\u57df\u5305\u542b36\u4e2a\u57fa\u56e0\uff0c\u5176\u4e2d\u4e0e\u75c7\u72b6\u5173\u7cfb\u5bc6\u5207\u7684\u67094\u4e2a\uff1a<strong>IGF1R\u3001NR2F2\u3001CHD2\u3001MEF2A<\/strong>\u3002\u5176\u4e2d\u4e0e\u75c7\u72b6\u5173\u8054\u6700\u4e3a\u4e00\u81f4\u7684\u662f<strong>IGF1R\uff08\u80f0\u5c9b\u7d20\u6837\u751f\u957f\u56e0\u5b501\u53d7\u4f53\uff09\u57fa\u56e0<\/strong>\u3002\u8be5\u8bba\u6587\u7684\u6587\u732e\u7efc\u8ff0\u663e\u793a\uff0c\u622a\u81f3\u76ee\u524d\u5168\u7403\u62a5\u544a\u7684&#8221;\u5355\u7eaf\u7f3a\u5931&#8221;\u75c5\u4f8b\u7ea6\u4e3a58\u4f8b\uff0c\u7edd\u975e\u75c5\u4f8b\u6570\u4f17\u591a\u7684\u75be\u75c5\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E4%B8%8E%E5%90%8D%E7%A7%B0%E7%9B%B8%E4%BC%BC%E7%96%BE%E7%97%85%E7%9A%84%E5%8C%BA%E5%88%AB%EF%BC%88%E5%AE%B9%E6%98%93%E6%B7%B7%E6%B7%86%E7%9A%843%E7%A7%8D%E7%97%85%E5%90%8D%EF%BC%89\"><\/span><strong>2. \u4e0e\u540d\u79f0\u76f8\u4f3c\u75be\u75c5\u7684\u533a\u522b\uff08\u5bb9\u6613\u6df7\u6dc6\u76843\u79cd\u75c5\u540d\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u4e0e15\u53f7\u67d3\u8272\u4f53\u76f8\u5173\u7684\u75be\u75c5\u540d\u79f0\u6709\u591a\u79cd\uff0c\u5373\u4f7f\u540c\u5c5e&#8221;15\u53f7\u67d3\u8272\u4f53&#8221;\uff0c\u4f4d\u7f6e\u4e0e\u53d8\u5316\u65b9\u5411\uff08\u7f3a\u5931\u8fd8\u662f\u91cd\u590d\uff09\u4e0d\u540c\uff0c\u75c7\u72b6\u4e5f\u53ef\u80fd\u622a\u7136\u76f8\u53cd\u3002<\/strong>\u4e0b\u9762\u6574\u7406\u4e86\u5bb9\u6613\u6df7\u6dc6\u7684\u75c5\u540d\u3002<\/p>\n\n\n\n<figure class=\"wp-table-block\"><table><thead><tr><th>\u75c5\u540d<\/th><th>\u67d3\u8272\u4f53\u4e0a\u7684\u4f4d\u7f6e<\/th><th>\u53d8\u5316\u65b9\u5411<\/th><th>\u4e3b\u8981\u7279\u5f81<\/th><\/tr><\/thead><tbody><tr><td>15q26-qter\u7f3a\u5931\u7efc\u5408\u5f81\uff08\u672c\u6587\uff09<\/td><td>\u957f\u81c226\u9644\u8fd1~\u672b\u7aef<\/td><td>\u7f3a\u5931\uff08\u4e0d\u8db3\uff09<\/td><td>IGF1R\u4e0d\u8db3\u5bfc\u81f4\u7684\u751f\u957f\u969c\u788d\u30fb\u8eab\u6750\u77ee\u5c0f<\/td><\/tr><tr><td>15q26\u8fc7\u5ea6\u751f\u957f\u7efc\u5408\u5f81<\/td><td>\u957f\u81c226\u9644\u8fd1\uff08\u672b\u7aef\uff09<\/td><td>\u91cd\u590d\uff08\u8fc7\u591a\uff09<\/td><td>IGF1R\u8fc7\u5269\u5bfc\u81f4\u7684\u8fc7\u5ea6\u751f\u957f\u30fb\u8eab\u6750\u9ad8\u5927<\/td><\/tr><tr><td>\u666e\u62c9\u5fb7-\u5a01\u5229\u7efc\u5408\u5f81\uff0f\u5b89\u683c\u5c14\u66fc\u7efc\u5408\u5f81<\/td><td>\u957f\u81c211-13\uff08\u9760\u8fd1\u67d3\u8272\u4f53\u4e2d\u592e\uff09<\/td><td>\u7f3a\u5931\uff08\u75c7\u72b6\u56e0\u6765\u81ea\u7236\u65b9\u6216\u6bcd\u65b9\u800c\u5f02\uff09<\/td><td>\u66b4\u98df\u30fb\u80a5\u80d6\uff0c\u6216\u91cd\u5ea6\u53d1\u80b2\u969c\u788d\u3002\u4e0e15q26\u5b8c\u5168\u662f\u4e0d\u540c\u533a\u57df<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<p>\u80ce\u513f\u901a\u5e38\u4ece\u7236\u65b9\u548c\u6bcd\u65b9\u5404\u7ee7\u627f\u4e00\u4efd\u76f8\u540c\u4f4d\u7f6e\u7684\u9057\u4f20\u4fe1\u606f\uff0c\u5408\u8ba1\u5171\u4e24\u4efd\u3002\u82e515q26\u533a\u57df\u7f3a\u5931\u4e00\u4efd\uff0cIGF1R\u57fa\u56e0\u7684\u529f\u80fd\u5c31\u4f1a\u51cf\u534a\uff0c\u751f\u957f\u56e0\u6b64\u53d7\u5230\u6291\u5236\u3002\u53cd\u4e4b\uff0c\u82e5\u591a\u51fa\u4e00\u4efd\uff0cIGF1R\u57fa\u56e0\u7684\u529f\u80fd\u5c31\u4f1a\u8fc7\u5269\uff0c\u751f\u957f\u56e0\u6b64\u53d7\u5230\u4fc3\u8fdb\u3002\u6211\u4eec\u7f51\u7ad9\u8fd8\u6709\u53e6\u4e00\u7bc7\u6587\u7ae0\u8be6\u7ec6\u4ecb\u7ecd\u4e86\u8fd9\u4e00&#8221;\u955c\u50cf&#8221;\u5173\u7cfb\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-15q26-overgrowth-syndrome-guide\/\">15q26\u8fc7\u5ea6\u751f\u957f\u7efc\u5408\u5f81<\/a>\uff0c\u6b22\u8fce\u4e00\u5e76\u67e5\u9605\u3002<\/p>\n\n\n\n<p>\u672c\u6587\u9664\u4e86\u9057\u4f20\u5b66\u5c42\u9762\u7684\u533a\u522b\u4ee5\u53ca\u4e0e\u4ea7\u524d\u8bca\u65ad\u30fbNIPT\u7684\u5173\u7cfb\u5916\uff0c\u8fd8\u5c06\u8bf4\u660e\u4f55\u65f6\u53ef\u4ee5\u8003\u8651\u751f\u957f\u6fc0\u7d20\u6cbb\u7597\uff0c\u4ee5\u53ca\u65e5\u5e38\u751f\u6d3b\u4e2d\u7684\u5e94\u5bf9\u65b9\u6cd5\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E4%B8%BB%E8%A6%81%E7%97%87%E7%8A%B6%EF%BC%88%E8%BD%BB%E9%87%8D%E7%A8%8B%E5%BA%A6%E5%9B%A0%E7%BC%BA%E5%A4%B1%E8%8C%83%E5%9B%B4%E8%80%8C%E5%BC%82%EF%BC%89\"><\/span><strong>3. \u4e3b\u8981\u75c7\u72b6\uff08\u8f7b\u91cd\u7a0b\u5ea6\u56e0\u7f3a\u5931\u8303\u56f4\u800c\u5f02\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u7f3a\u5931\u8d77\u59cb\u7684\u4f4d\u7f6e\uff08\u65ad\u88c2\u70b9\uff09\u4e0d\u540c\uff0c\u6240\u6d89\u53ca\u7684\u57fa\u56e0\u4e5f\u4e0d\u540c\uff0c\u56e0\u6b64\u6bcf\u4e2a\u4eba\u7684\u75c7\u72b6\u7ec4\u5408\u4e0e\u8f7b\u91cd\u7a0b\u5ea6\u90fd\u5404\u4e0d\u76f8\u540c\u3002<\/strong>\u6839\u636e2021\u5e74\u7684\u75c5\u4f8b\u62a5\u544a\u4ee5\u53ca2008\u5e74\u7684<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC2248164\/\" target=\"_blank\" rel=\"noopener\">\u53e6\u4e00\u7bc7\u75c5\u4f8b\u62a5\u544a<\/a>\uff0c\u5df2\u77e5\u6709\u4ee5\u4e0b\u7279\u5f81\u3002<\/p>\n\n\n\n<figure class=\"wp-table-block\"><table><thead><tr><th>\u75c7\u72b6\u30fb\u7279\u5f81<\/th><th>\u62a5\u544a\u60c5\u51b5<\/th><\/tr><\/thead><tbody><tr><td>\u80ce\u513f\u671f\u5f00\u59cb\u7684\u53d1\u80b2\u8fdf\u7f13\uff08\u5bab\u5185\u53d1\u80b2\u4e0d\u826f\uff09<\/td><td>\u6838\u5fc3\u75c7\u72b6\u3002\u76f8\u5bf9\u5b55\u5468\u800c\u8a00\u4f53\u578b\u504f\u5c0f\uff08SGA\uff09\u51fa\u751f\u7684\u60c5\u51b5\u8f83\u591a<\/td><\/tr><tr><td>\u51fa\u751f\u540e\u8eab\u6750\u77ee\u5c0f\u30fb\u4f53\u91cd\u589e\u957f\u4e0d\u826f<\/td><td>IGF1R\u4e0d\u8db3\u5bfc\u81f4\u7684\u6838\u5fc3\u75c7\u72b6\u3002\u5373\u4f7f\u98df\u6b32\u6b63\u5e38\uff0c\u751f\u957f\u901f\u5ea6\u4e5f\u8f83\u7f13\u6162<\/td><\/tr><tr><td>\u53d1\u80b2\u8fdf\u7f13\u30fb\u667a\u529b\u969c\u788d<\/td><td>\u8f7b\u5ea6\u5230\u91cd\u5ea6\u4e0d\u7b49<\/td><\/tr><tr><td>\u5c0f\u5934\u7578\u5f62\u30fb\u7279\u5f81\u6027\u9762\u5bb9\uff08\u5012\u4e09\u89d2\u5f62\u8138\u3001\u9f3b\u6881\u5bbd\u7b49\uff09<\/td><td>\u591a\u7bc7\u62a5\u544a\u4e2d\u5747\u6709\u51fa\u73b0<\/td><\/tr><tr><td>\u80a2\u4f53\u7279\u5f81\uff08\u659c\u6307\u3001\u6307\u7532\u53d1\u80b2\u4e0d\u826f\u7b49\uff09<\/td><td>\u62a5\u544a\u75c5\u4f8b\u4e2d\u76f8\u5bf9\u591a\u89c1<\/td><\/tr><tr><td>\u5148\u5929\u6027\u5fc3\u810f\u75c5\uff08\u623f\u95f4\u9694\u7f3a\u635f\u7b49\uff09<\/td><td>\u7f3a\u5931\u8303\u56f4\u8f83\u5927\uff08\u5305\u542bNR2F2\uff09\u7684\u75c5\u4f8b\u4e2d\u8f83\u591a<\/td><\/tr><tr><td>\u5148\u5929\u6027\u8188\u759d<\/td><td>\u65ad\u88c2\u70b9\u4f4d\u4e8e15q26.1~15q26.2\u9644\u8fd1\u7684\u90e8\u5206\u75c5\u4f8b\u4e2d\u6709\u62a5\u544a<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<p>\u9700\u8981\u6ce8\u610f\u7684\u662f\uff0c\u8188\u759d\u5e76\u975e\u6240\u6709\u60a3\u8005\u90fd\u4f1a\u51fa\u73b0\u3002\u524d\u8ff0PMC2248164\u7684\u62a5\u544a\u6307\u51fa\uff0c\u4e0e\u8188\u759d\u76f8\u5173\u7684\u533a\u57df\u88ab\u9650\u5b9a\u5728&#8221;15q26.1\u672b\u7aef\u4fa7\u81f315q26.2\u8d77\u59cb\u9644\u8fd1&#8221;\u3002\u5982\u679c\u7f3a\u5931\u7684\u65ad\u88c2\u70b9\u4f4d\u4e8e\u6bd4\u8fd9\u66f4\u9760\u672b\u7aef\u7684\u4e00\u4fa7\uff08\u4ec5\u5305\u542bIGF1R\u7684\u533a\u57df\uff09\uff0c\u4e0d\u4f34\u6709\u8188\u759d\u7684\u60c5\u51b5\u4e5f\u5e76\u4e0d\u5c11\u89c1\u3002\u8bf7\u4e0e\u4e3b\u6cbb\u533b\u751f\u4e00\u8d77\u786e\u8ba4\u8bca\u65ad\u4e66\u4e0a\u8bb0\u8f7d\u7684\u7f3a\u5931\u8303\u56f4\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E7%97%85%E5%9B%A0%E4%B8%8E%E9%81%97%E4%BC%A0%E6%96%B9%E5%BC%8F%EF%BC%88%E6%96%B0%E5%8F%91%E7%AA%81%E5%8F%98%E4%B8%8E%E5%AE%B6%E6%97%8F%E5%86%85%E9%81%97%E4%BC%A0%EF%BC%89\"><\/span><strong>4. \u75c5\u56e0\u4e0e\u9057\u4f20\u65b9\u5f0f\uff08\u65b0\u53d1\u7a81\u53d8\u4e0e\u5bb6\u65cf\u5185\u9057\u4f20\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u591a\u6570\u60c5\u51b5\u4e0b\u662f\u5076\u53d1\u6027\u53d8\u5316\uff08\u65b0\u53d1\u7a81\u53d8\uff09\u6240\u81f4\uff0c\u5bf9\u4e0b\u4e00\u80ce\u7684\u5f71\u54cd\u56e0\u5bb6\u65cf\u60c5\u51b5\u800c\u5f02\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\u7684\u8fc7\u7a0b\u4e2d\uff0c\u6216\u53d7\u7cbe\u540e\u4e0d\u4e45\u7684\u7ec6\u80de\u5206\u88c2\u9636\u6bb5\uff0c\u8fd9\u79cd\u7f3a\u5931\u6709\u53ef\u80fd\u5076\u7136\u53d1\u751f\u3002\u524d\u8ff02021\u5e74\u7684\u75c5\u4f8b\u62a5\u544a\u4e5f\u786e\u8ba4\u4e86\u53cc\u4eb2\u7684\u67d3\u8272\u4f53\u5747\u6b63\u5e38\uff0c\u8bf4\u660e\u8fd9\u662f\u4e00\u79cd\u65b0\u53d1\u7a81\u53d8\u3002<strong>\u5e76\u975e\u5b55\u671f\u996e\u98df\u6216\u751f\u6d3b\u4e60\u60ef\u6240\u81f4\u3002<\/strong>\u6211\u5728\u95e8\u8bca\u4e2d\u603b\u662f\u544a\u8bc9\u60a3\u8005\uff0c\u5b8c\u5168\u6ca1\u6709\u5fc5\u8981\u81ea\u8d23\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%AE%B6%E6%97%8F%E5%86%85%E9%81%97%E4%BC%A0%E7%9A%84%E6%83%85%E5%86%B5\"><\/span><strong>\u5bb6\u65cf\u5185\u9057\u4f20\u7684\u60c5\u51b5<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6781\u5c11\u6570\u60c5\u51b5\u4e0b\uff0c\u7236\u6bcd\u4e00\u65b9\u5728\u65e0\u75c7\u72b6\u7684\u60c5\u51b5\u4e0b\u643a\u5e26\u5e73\u8861\u6613\u4f4d\uff08\u9057\u4f20\u4fe1\u606f\u603b\u91cf\u4e0d\u53d8\uff0c\u4f46\u6392\u5217\u987a\u5e8f\u53d1\u751f\u4e86\u4e92\u6362\u7684\u72b6\u6001\uff09\uff0c\u8fd9\u79cd\u6392\u5217\u5728\u4e0b\u4e00\u4ee3\u4e2d\u4ee5\u4e0d\u5e73\u8861\u7684\u5f62\u5f0f\u8868\u73b0\u51fa\u6765\uff0c\u5c31\u4f1a\u5448\u73b0\u4e3a\u7f3a\u5931\u3002\u8fd9\u79cd\u60c5\u51b5\u4e0b\uff0c\u7406\u8bba\u4e0a\u4e0b\u4e00\u80ce\u9057\u4f20\u8be5\u7f3a\u5931\u7684\u6982\u7387\u7ea6\u4e3a50%\uff08\u4e0e\u663e\u6027\u9057\u4f20\u7c7b\u4f3c\u7684\u6a21\u5f0f\uff09\u3002\u8981\u51c6\u786e\u4e86\u89e3\u5bb6\u65cf\u7684\u9057\u4f20\u65b9\u5f0f\uff0c\u5bf9\u7236\u6bcd\u53cc\u65b9\u8fdb\u884c\u67d3\u8272\u4f53\u68c0\u67e5\u4f1a\u6709\u5e2e\u52a9\u3002<\/p>\n\n\n\n<p>\u5982\u679c\u62c5\u5fc3\u5bf9\u4e0b\u4e00\u80ce\u7684\u5f71\u54cd\uff0c\u5efa\u8bae\u8003\u8651\u7531\u4e34\u5e8a\u9057\u4f20\u4e13\u79d1\u533b\u751f\u6216\u8ba4\u8bc1\u9057\u4f20\u54a8\u8be2\u5e08\u8fdb\u884c\u9057\u4f20\u54a8\u8be2\u3002\u4ec5\u4ec5\u4e86\u89e3\u7236\u6bcd\u53cc\u65b9\u7684\u68c0\u67e5\u7ed3\u679c\uff0c\u4e5f\u6709\u52a9\u4e8e\u4e3a\u4e0b\u4e00\u6b21\u598a\u5a20\u505a\u597d\u89c4\u5212\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%8E%AF%E7%8A%B6%E6%9F%93%E8%89%B2%E4%BD%93%EF%BC%88Ring_15%EF%BC%89%E5%AF%BC%E8%87%B4%E7%9A%84%E6%83%85%E5%86%B5\"><\/span><strong>\u73af\u72b6\u67d3\u8272\u4f53\uff08Ring 15\uff09\u5bfc\u81f4\u7684\u60c5\u51b5<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6781\u5c11\u6570\u60c5\u51b5\u4e0b\uff0c15\u53f7\u67d3\u8272\u4f53\u4e24\u7aef\u65ad\u88c2\u540e\u8fde\u63a5\uff0c\u5f62\u6210\u73af\u72b6\u7ed3\u6784\uff0c\u5373&#8221;\u73af\u72b615\u53f7\u67d3\u8272\u4f53\uff08Ring 15\uff09&#8221;\uff0c\u8fd9\u79cd\u53d8\u5316\u4e5f\u4f1a\u5bfc\u81f4\u957f\u81c2\u672b\u7aef\u7684\u57fa\u56e0\u4e22\u5931\u3002\u5373\u4f7f\u5fae\u9635\u5217\u68c0\u67e5\u5224\u5b9a\u4e3a\u7f3a\u5931\uff0c\u901a\u8fc7\u8ffd\u52a0\u663e\u5fae\u955c\u4e0b\u7684\u6838\u578b\u5206\u6790\uff08G\u663e\u5e26\u6cd5\uff09\uff0c\u4e5f\u53ef\u4ee5\u786e\u8ba4\u662f\u5426\u5b58\u5728\u73af\u72b6\u7ed3\u6784\u3002\u5982\u679c\u4e3b\u6cbb\u533b\u751f\u5efa\u8bae\u8ffd\u52a0\u68c0\u67e5\uff0c\u4e0d\u59a8\u786e\u8ba4\u4e00\u4e0b\u68c0\u67e5\u7684\u5177\u4f53\u76ee\u7684\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/10q26-deletion-syndrome\/?lang=zh-hans\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">10q26\u6b20\u5931\u75c7\u5019\u7fa4 <\/div>\n          <div class=\"blog-card-excerpt\">10q26\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u300110\u756a\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u6b20\u5931\u304c\u539f\u56e0\u3067\u767a\u751f\u3059\u308b\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002\u767a\u9054\u9045\u5ef6\u3084\u5185\u81d3\u7570\u5e38\u3001\u884c\u52d5\u554f\u984c\u304c\u7279\u5fb4\u3067\u3001\u6cbb\u7642\u6cd5\u3084\u5bb6\u65cf\u652f\u63f4\u306e\u30dd\u30a4\u30f3...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"5_%E4%B8%8E%E4%BA%A7%E5%89%8D%E8%AF%8A%E6%96%AD%E3%83%BBNIPT%E7%9A%84%E5%85%B3%E7%B3%BB\"><\/span><strong>5. \u4e0e\u4ea7\u524d\u8bca\u65ad\u30fbNIPT\u7684\u5173\u7cfb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>15q26-qter\u533a\u57df\u7684\u7f3a\u5931\u5e76\u4e0d\u5305\u542b\u5728\u6807\u51c6NIPT\u7684\u68c0\u6d4b\u8303\u56f4\u5185\uff0c\u5373\u4f7f\u662f\u5c06\u68c0\u6d4b\u8303\u56f4\u6269\u5927\u81f3\u5fae\u7f3a\u5931\u7684\u6269\u5c55\u68c0\u67e5\uff0c\u660e\u786e\u5c06\u5176\u7eb3\u5165\u68c0\u6d4b\u5bf9\u8c61\u7684\u673a\u6784\u4e5f\u975e\u5e38\u6709\u9650\u3002<\/strong><\/p>\n\n\n\n<p>\u4e00\u822c\u7684\u57fa\u7840NIPT\u4e3b\u8981\u68c0\u6d4b21\u300118\u300113\u4e09\u4f53\u8fd9\u7c7b\u67d3\u8272\u4f53&#8221;\u6570\u76ee&#8221;\u7684\u53d8\u5316\u3002\u90e8\u5206\u6269\u5c55\u65b9\u6848\u4e5f\u5305\u542b\u53d1\u751f\u9891\u7387\u76f8\u5bf9\u8f83\u9ad8\u7684\u5fae\u7f3a\u5931\uff08\u598222q11.2\u7f3a\u5931\u7efc\u5408\u5f81\u7b49\uff09\uff0c\u4f46\u7531\u4e8e15q26-qter\u533a\u57df\u6839\u636eOrphanet\u7684\u4f30\u8ba1\u53d1\u75c5\u7387\u4e0d\u8db3\u767e\u4e07\u5206\u4e4b\u4e00\uff0c\u56e0\u6b64\u5c06\u5176\u7eb3\u5165\u6807\u51c6\u68c0\u6d4b\u8303\u56f4\u7684\u68c0\u6d4b\u673a\u6784\u5e76\u4e0d\u591a\u3002\u5efa\u8bae\u63d0\u524d\u786e\u8ba4\u60a8\u6240\u8003\u8651\u65b9\u6848\u7684\u5177\u4f53\u68c0\u6d4b\u8303\u56f4\u3002<\/p>\n\n\n\n<p>\u6211\u4eecHiro Clinic NIPT\u4e5f\u4f1a\u6536\u5230&#8221;\u80ce\u513f\u8d85\u58f0\u63d0\u793a\u53d1\u80b2\u8fdf\u7f13\uff08SGA\uff09\uff0c\u62c5\u5fc3\u662f\u67d3\u8272\u4f53\u53d8\u5316&#8221;\u8fd9\u6837\u7684\u54a8\u8be2\u3002\u9996\u5148\u5e0c\u671b\u5927\u5bb6\u4e86\u89e3\u7684\u662f\uff0c<strong>NIPT\u7ec8\u7a76\u53ea\u662f\u4e00\u79cd\u975e\u786e\u5b9a\u6027\u7684\u7b5b\u67e5\u68c0\u6d4b<\/strong>\u3002<\/p>\n\n\n\n<p>\u516c\u76ca\u793e\u56e2\u6cd5\u4eba\u65e5\u672c\u4ea7\u79d1\u5987\u4eba\u79d1\u5b66\u4f1a\u7684<a href=\"https:\/\/www.jsog.or.jp\/news\/pdf\/NIPT_kaiteishishin.pdf\" target=\"_blank\" rel=\"noopener\">NIPT\u76f8\u5173\u6307\u5357<\/a>\u4e2d\u4e5f\u6307\u51fa\uff0cNIPT\u7684\u7ed3\u679c\u4ec5\u505c\u7559\u5728\u7b5b\u67e5\uff08\u975e\u786e\u5b9a\u6027\uff09\u68c0\u6d4b\u7684\u8303\u7574\u3002\u786e\u8bca\u9700\u8981\u8fdb\u884c\u7f8a\u6c34\u68c0\u67e5\u7b49\u6709\u521b\u68c0\u67e5\u3002\u8d85\u58f0\u63d0\u793a\u7684\u80ce\u513f\u53d1\u80b2\u4e0d\u826f\uff08FGR\/IUGR\uff09\uff0c\u5176\u539f\u56e0\u4e0d\u4ec5\u9650\u4e8e\u67d3\u8272\u4f53\u5f02\u5e38\uff0c\u80ce\u76d8\u529f\u80fd\u7b49\u5176\u4ed6\u56e0\u7d20\u4e5f\u53ef\u80fd\u76f8\u5173\u3002\u8bf7\u4e0d\u8981\u6025\u4e8e\u4e0b\u7ed3\u8bba\uff0c\u4e0e\u4e13\u79d1\u533b\u751f\u4e00\u8d77\u9010\u4e00\u68b3\u7406\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"6_%E7%A1%AE%E8%AF%8A%E5%89%8D%E7%9A%84%E6%B5%81%E7%A8%8B\"><\/span><strong>6. \u786e\u8bca\u524d\u7684\u6d41\u7a0b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u786e\u8bca\u4e3b\u8981\u4f9d\u9760\u67d3\u8272\u4f53\u5fae\u9635\u5217\u68c0\u67e5\uff08CMA\uff09\u8fd9\u4e00\u7cbe\u5bc6\u68c0\u67e5\u3002<\/strong><\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%9F%93%E8%89%B2%E4%BD%93%E5%BE%AE%E9%98%B5%E5%88%97%E6%A3%80%E6%9F%A5%EF%BC%88CMA%EF%BC%89\"><\/span><strong>\u67d3\u8272\u4f53\u5fae\u9635\u5217\u68c0\u67e5\uff08CMA\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8fd9\u662f\u4e00\u79cd\u53ef\u4ee5\u68c0\u51fa\u4f20\u7edf\u663e\u5fae\u955c\u67d3\u8272\u4f53\u68c0\u67e5\uff08G\u663e\u5e26\u6cd5\uff09\u65e0\u6cd5\u53d1\u73b0\u7684\u3001\u6570kb\u5230\u6570Mb\u5355\u4f4d\u7684\u5fae\u5c0f\u7f3a\u5931\u7684\u68c0\u67e5\u3002\u901a\u8fc7\u8be5\u68c0\u67e5\u53ef\u4ee5\u8be6\u7ec6\u4e86\u89e3\u7f3a\u5931\u7684\u5177\u4f53\u8303\u56f4\uff0c\u4ee5\u53ca\u662f\u5426\u5305\u542bIGF1R\u6216NR2F2\u3002\u5173\u4e8e\u7f8a\u6c34\u68c0\u67e5\u4e0e\u5fae\u9635\u5217\u68c0\u67e5\u7684\u5173\u7cfb\uff0c\u6211\u4eec\u5728<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/?lang=zh-hans\">\u7f8a\u6c34\u68c0\u67e5\u30fb\u5fae\u9635\u5217\u68c0\u6d4b\u76f8\u5173\u6587\u7ae0<\/a>\u4e2d\u6709\u8be6\u7ec6\u8bf4\u660e\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%88%B6%E6%AF%8D%E5%8F%8C%E6%96%B9%E7%9A%84%E6%A3%80%E6%9F%A5\"><\/span><strong>\u7236\u6bcd\u53cc\u65b9\u7684\u68c0\u67e5<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u901a\u8fc7\u68c0\u67e5\u7236\u6bcd\u53cc\u65b9\u7684\u8840\u6db2\uff0c\u53ef\u4ee5\u5224\u65ad\u662f\u65b0\u53d1\u7a81\u53d8\uff0c\u8fd8\u662f\u901a\u8fc7\u5e73\u8861\u6613\u4f4d\u5728\u5bb6\u65cf\u5185\u9057\u4f20\u800c\u6765\u3002\u8fd9\u5bf9\u4e8e\u8003\u8651\u4e0b\u4e00\u80ce\u7684\u60c5\u51b5\u6765\u8bf4\u4e5f\u662f\u91cd\u8981\u7684\u68c0\u67e5\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\u5c06\u901a\u8fc7\u751f\u957f\u66f2\u7ebf\u8bb0\u5f55\u3001\u5fc3\u810f\u8d85\u58f0\u786e\u8ba4\u662f\u5426\u5b58\u5728\u5fc3\u810f\u75be\u75c5\u3001\u8179\u90e8\u8d85\u58f0\u3001\u53d1\u80b2\u68c0\u67e5\u7b49\u591a\u65b9\u9762\u7efc\u5408\u8bc4\u4f30\u5b69\u5b50\u7684\u72b6\u6001\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"7_%E6%B2%BB%E7%96%97%E4%B8%8E%E6%94%AF%E6%8C%81\"><\/span><strong>7. \u6cbb\u7597\u4e0e\u652f\u6301<\/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\u53ef\u4ee5\u901a\u8fc7\u751f\u957f\u6fc0\u7d20\u6cbb\u7597\u3001\u5eb7\u590d\u8bad\u7ec3\u7b49\u9488\u5bf9\u75c7\u72b6\u7684\u652f\u6301\u6765\u4fc3\u8fdb\u751f\u957f\u3002<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8003\u8651\u751f\u957f\u6fc0\u7d20\u6cbb\u7597<\/strong>\uff1a\u5bf9\u4e8e\u8eab\u6750\u77ee\u5c0f\uff0c\u53ef\u4ee5\u8003\u8651\u57fa\u56e0\u91cd\u7ec4\u751f\u957f\u6fc0\u7d20\uff08rGH\uff09\u6cbb\u7597\u3002\u4f46\u5df2\u77e5\u5176\u6548\u679c\u5b58\u5728\u8f83\u5927\u7684\u4e2a\u4f53\u5dee\u5f02\u3002<\/li>\n\n\n\n<li><strong>\u5fc3\u810f\u75be\u75c5\u7684\u7ba1\u7406<\/strong>\uff1a\u4e0e\u5c0f\u513f\u5fc3\u810f\u5185\u79d1\u5408\u4f5c\uff0c\u6839\u636e\u623f\u95f4\u9694\u7f3a\u635f\u7b49\u7684\u4e25\u91cd\u7a0b\u5ea6\u8003\u8651\u89c2\u5bdf\u968f\u8bbf\u6216\u624b\u672f\u6cbb\u7597\u3002<\/li>\n\n\n\n<li><strong>\u53d1\u80b2\u652f\u6301\uff08\u5eb7\u590d\u8bad\u7ec3\uff09<\/strong>\uff1a\u901a\u8fc7\u7269\u7406\u6cbb\u7597\uff08PT\uff09\u3001\u4f5c\u4e1a\u6cbb\u7597\uff08OT\uff09\u3001\u8bed\u8a00\u8bad\u7ec3\uff08ST\uff09\uff0c\u652f\u6301\u8fd0\u52a8\u3001\u8bed\u8a00\u53ca\u65e5\u5e38\u751f\u6d3b\u80fd\u529b\u7684\u53d1\u80b2\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u4ece\u5b9e\u9645\u75c5\u4f8b\u62a5\u544a\u6765\u770b\uff0c\u751f\u957f\u6fc0\u7d20\u6cbb\u7597\u7684\u6548\u679c\u5b58\u5728\u5dee\u5f02\u3002<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC11729826\/\" target=\"_blank\" rel=\"noopener\">2025\u5e74\u7684\u4e00\u7bc7\u75c5\u4f8b\u62a5\u544a<\/a>\u663e\u793a\uff0c\u4e00\u540d\u56e015q26.3\u7f3a\u5931\u800c\u4e22\u5931IGF1R\u57fa\u56e0\u7684\u60a3\u8005\u63a5\u53d7\u4e869\u4e2a\u6708\u7684rGH\u6cbb\u7597\uff0c\u8840\u6db2\u4e2dIGF-1\u6d53\u5ea6\u6709\u6240\u4e0a\u5347\uff0c\u4f46\u8eab\u9ad8\u589e\u957f\u901f\u5ea6\uff08\u751f\u957f\u901f\u7387\uff09\u4e0d\u8db3\uff0c\u6cbb\u7597\u4e2d\u6b62\u3002\u8fd9\u5e76\u4e0d\u4ee3\u8868\u6548\u679c\u4e00\u5b9a\u4f1a\u51fa\u73b0\uff0c\u9700\u8981\u4e0e\u4e3b\u6cbb\u7684\u5c0f\u513f\u5185\u5206\u6ccc\u79d1\u533b\u751f\u5171\u540c\u89c2\u5bdf\u7ecf\u8fc7\u540e\u518d\u505a\u5224\u65ad\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"426\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/30158805_s.jpg\" alt=\"\u63a5\u53d7\u533b\u751f\u8bca\u5bdf\u7684\u513f\u7ae5\u793a\u610f\u56fe\" class=\"wp-image-84431\"\/><\/figure><\/div>\n\n\n<p>\u7531\u4e8e\u6bcf\u4e2a\u4eba\u7684\u75c7\u72b6\u7ec4\u5408\u4e0e\u8f7b\u91cd\u7a0b\u5ea6\u90fd\u4e0d\u5c3d\u76f8\u540c\uff0c\u56e0\u6b64\u5e76\u4e0d\u5b58\u5728&#8221;\u60a3\u6b64\u75c5\u5fc5\u5b9a\u5982\u6b64&#8221;\u7684\u56fa\u5b9a\u75c5\u7a0b\u3002\u9700\u8981\u4e0e\u4e3b\u6cbb\u7684\u5c0f\u513f\u79d1\u533b\u751f\u3001\u5c0f\u513f\u5185\u5206\u6ccc\u79d1\u533b\u751f\u3001\u5eb7\u590d\u8bad\u7ec3\u56e2\u961f\u5171\u540c\u5546\u8bae\uff0c\u9010\u6b65\u4e3a\u5b69\u5b50\u5236\u5b9a\u5408\u9002\u7684\u652f\u6301\u8ba1\u5212\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%80%83%E8%99%91%E7%94%9F%E9%95%BF%E6%BF%80%E7%B4%A0%E6%B2%BB%E7%96%97%E7%9A%84%E6%97%B6%E6%9C%BA\"><\/span><strong>\u8003\u8651\u751f\u957f\u6fc0\u7d20\u6cbb\u7597\u7684\u65f6\u673a<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u751f\u957f\u6fc0\u7d20\u6cbb\u7597\u4e00\u822c\u57283\u5c81\u4ee5\u540e\u3001\u7b26\u5408\u8eab\u6750\u77ee\u5c0f\u6807\u51c6\u65f6\u624d\u4f1a\u88ab\u5217\u5165\u8003\u8651\u8303\u56f4\u3002\u5728\u65e5\u672c\uff0c\u53ef\u80fd\u901a\u8fc7&#8221;SGA\u6027\u77ee\u5c0f\u75c7&#8221;\u7b49\u73b0\u6709\u9002\u5e94\u75c7\u63a5\u53d7\u6cbb\u7597\uff0c\u7531\u4e8e\u6cbb\u7597\u5f00\u59cb\u7684\u65f6\u673a\u5b58\u5728\u4e00\u5b9a\u6761\u4ef6\uff0c\u5efa\u8bae\u5c3d\u65e9\u4e0e\u5c0f\u513f\u5185\u5206\u6ccc\u79d1\u4e13\u79d1\u533b\u751f\u53d6\u5f97\u8054\u7cfb\uff0c\u4ee5\u4fbf\u987a\u5229\u6c9f\u901a\u3002\u6b64\u5916\uff0c\u5728\u968f\u8bbf\u89c2\u5bdf\u8fc7\u7a0b\u4e2d\uff0c\u6709\u65f6\u53ef\u80fd\u4f1a\u53d1\u73b0\u8840\u6db2\u4e2d\u7684IGF-1\uff08\u751f\u957f\u8c03\u8282\u7d20C\uff09\u6570\u503c\u504f\u9ad8\uff0c\u8fd9\u88ab\u8ba4\u4e3a\u662f\u7531\u4e8eIGF1R\u53d7\u4f53\u4e0d\u8db3\uff0c\u8eab\u4f53\u8bd5\u56fe\u589e\u52a0\u4fe1\u53f7\u6240\u81f4\u7684\u4e00\u79cd\u8868\u73b0\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%90%A5%E5%85%BB%E6%96%B9%E9%9D%A2%E7%9A%84%E5%BA%94%E5%AF%B9\"><\/span><strong>\u8425\u517b\u65b9\u9762\u7684\u5e94\u5bf9<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5a74\u513f\u671f\u7531\u4e8e\u5438\u542e\u529b\u8f83\u5f31\uff0c\u4f53\u91cd\u53ef\u80fd\u4e0d\u6613\u589e\u52a0\u3002\u53ef\u4ee5\u91c7\u7528\u9ad8\u70ed\u91cf\u914d\u65b9\u5976\u3001\u5c11\u91cf\u591a\u6b21\u5582\u517b\u3001\u5fc5\u8981\u65f6\u901a\u8fc7\u7ba1\u9972\u8865\u5145\u4f53\u529b\u7b49\u65b9\u6cd5\u5e94\u5bf9\u3002\u4e0d\u8981\u52c9\u5f3a\u589e\u52a0\u5582\u517b\u91cf\uff0c\u8bf7\u4e0e\u4e3b\u6cbb\u533b\u751f\u548c\u8425\u517b\u5e08\u5546\u91cf\uff0c\u627e\u5230\u9002\u5408\u5b69\u5b50\u7684\u8282\u594f\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"8_%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>8. \u65e5\u5e38\u751f\u6d3b\u4e2d\u7684\u5e94\u5bf9\u65b9\u6cd5<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u5373\u4f7f\u4f53\u91cd\u548c\u8eab\u9ad8\u7684\u589e\u957f\u6bd4\u8f83\u7f13\u6162\uff0c\u53ea\u8981\u5728\u65e5\u5e38\u5e94\u5bf9\u65b9\u5f0f\u4e0a\u7a0d\u4f5c\u8c03\u6574\uff0c\u5bb6\u5ead\u7684\u8d1f\u62c5\u548c\u4e0d\u5b89\u611f\u4e5f\u4f1a\u6709\u6240\u6539\u53d8\u3002<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4e0d\u8981\u628a&#8221;\u5403\u996d&#8221;\u53d8\u6210\u538b\u529b\uff1a<\/strong>\u4f53\u91cd\u4e0d\u6613\u589e\u52a0\u65f6\uff0c\u5f88\u5bb9\u6613\u4e0d\u81ea\u89c9\u5730\u60f3\u7740&#8221;\u5fc5\u987b\u8ba9\u5b69\u5b50\u591a\u5403\u4e00\u70b9&#8221;\u3002\u8bf7\u5c06\u98df\u91cf\u5c0f\u89c6\u4e3a\u8fd9\u79cd\u75be\u75c5\u7684\u7279\u5f81\u4e4b\u4e00\uff0c\u4e0d\u8981\u52c9\u5f3a\u5582\u98df\uff0c\u501f\u52a9\u533b\u7528\u914d\u65b9\u5976\u6216\u8425\u517b\u8865\u5145\u5242\u7684\u529b\u91cf\uff0c\u4f18\u5148\u8ba9\u7528\u9910\u65f6\u5149\u672c\u8eab\u53d8\u5f97\u6109\u5feb\u3002<\/li>\n\n\n\n<li><strong>\u9009\u62e9\u5408\u9002\u5c3a\u7801\u7684\u8863\u670d\uff1a<\/strong>\u7531\u4e8e\u4f53\u683c\u5f80\u5f80\u6bd4\u5b9e\u9645\u5e74\u9f84\u504f\u5c0f\uff0c\u9009\u62e9\u8170\u90e8\u53ef\u7528\u677e\u7d27\u5e26\u8c03\u8282\uff0c\u6216\u4fbf\u4e8e\u7a7f\u8131\u8bbe\u8ba1\u7684\u8863\u670d\uff0c\u80fd\u591f\u51cf\u8f7b\u65e5\u5e38\u62a4\u7406\u7684\u8d1f\u62c5\u3002<\/li>\n\n\n\n<li><strong>\u7528&#8221;\u4e13\u5c5e\u66f2\u7ebf&#8221;\u770b\u5f85\u5b69\u5b50\u7684\u751f\u957f\uff1a<\/strong>\u4e0e\u6bcd\u5b50\u5065\u5eb7\u624b\u518c\u4e0a\u7684\u5e73\u5747\u66f2\u7ebf\u6216\u540c\u9f84\u5b69\u5b50\u76f8\u6bd4\u8f83\uff0c\u6709\u65f6\u4f1a\u8ba9\u4eba\u611f\u5230\u96be\u53d7\u3002\u4e0d\u8981\u8fdb\u884c\u6bd4\u8f83\uff0c\u800c\u662f\u4e0e\u4e3b\u6cbb\u533b\u751f\u4e00\u8d77\u786e\u8ba4\u5b69\u5b50\u81ea\u8eab\u751f\u957f\u66f2\u7ebf\u7684\u53d8\u5316\u8d8b\u52bf\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u6211\u5728\u95e8\u8bca\u4e2d\u4e5f\u7ecf\u5e38\u6536\u5230\u5173\u4e8e\u4f53\u91cd\u589e\u957f\u7684\u54a8\u8be2\u3002\u8bf7\u4e0d\u8981\u4e00\u4e2a\u4eba\u627f\u62c5\uff0c\u968f\u65f6\u5411\u5c0f\u513f\u79d1\u533b\u751f\u3001\u5eb7\u590d\u8bad\u7ec3\u56e2\u961f\u3001\u5fc3\u7406\u5e08\u7b49\u503c\u5f97\u4fe1\u8d56\u7684\u4e13\u5bb6\u54a8\u8be2\u60a8\u7684\u56f0\u6270\u3002\u70b9\u6ef4\u7684\u7528\u5fc3\u79ef\u7d2f\u8d77\u6765\uff0c\u4e00\u5b9a\u80fd\u8ba9\u5b69\u5b50\u548c\u5bb6\u4eba\u7684\u65e5\u5e38\u751f\u6d3b\u90fd\u53d8\u5f97\u66f4\u8f7b\u677e\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"9_%E9%A2%84%E5%90%8E%E4%B8%8E%E5%B1%95%E6%9C%9B\"><\/span><strong>9. \u9884\u540e\u4e0e\u5c55\u671b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u7531\u4e8e\u62a5\u544a\u75c5\u4f8b\u6570\u6781\u5c11\uff0c\u5f88\u96be\u65ad\u8a00\u957f\u671f\u9884\u540e\uff0c\u662f\u5426\u5408\u5e76\u5fc3\u810f\u75be\u75c5\u6216\u8188\u808c\u65b9\u9762\u7684\u5e76\u53d1\u75c7\uff0c\u88ab\u8ba4\u4e3a\u662f\u5f71\u54cd\u751f\u6d3b\u8d28\u91cf\u7684\u56e0\u7d20\u4e4b\u4e00\u3002<\/strong><\/p>\n\n\n\n<p>\u6709\u7684\u60a3\u8005\u4ec5\u8868\u73b0\u4e3a\u8eab\u6750\u77ee\u5c0f\u548c\u8f7b\u5ea6\u53d1\u80b2\u8fdf\u7f13\uff0c\u4e5f\u6709\u62a5\u544a\u75c5\u4f8b\u5408\u5e76\u5fc3\u810f\u75be\u75c5\u6216\u8188\u759d\uff0c\u9700\u8981\u66f4\u52a0\u8c28\u614e\u7684\u56f4\u4ea7\u671f\u7ba1\u7406\u3002\u8fd9\u79cd\u5dee\u5f02\u88ab\u8ba4\u4e3a\u4e0e\u7f3a\u5931\u8303\u56f4\u4ee5\u53caIGF1R\u4ee5\u5916\u6240\u5305\u542b\u7684\u57fa\u56e0\u7ec4\u5408\u6709\u5173\u3002<\/p>\n\n\n\n<p>\u5728\u95e8\u8bca\u4e2d\uff0c\u6211\u4e5f\u66fe\u9047\u5230\u60a3\u6709\u6b64\u7c7b\u7f55\u89c1\u67d3\u8272\u4f53\u75be\u75c5\u5b69\u5b50\u7684\u5bb6\u5c5e\u5c31\u751f\u957f\u524d\u666f\u524d\u6765\u54a8\u8be2\u3002\u7531\u4e8e\u5168\u7403\u8303\u56f4\u5185\u7684\u75c5\u4f8b\u79ef\u7d2f\u4ecd\u5728\u6301\u7eed\uff0c\u9700\u8981\u4e0e\u4e3b\u6cbb\u533b\u751f\u4e00\u8d77\u786e\u8ba4\u75c5\u60c5\u53d8\u5316\uff0c\u4ece\u957f\u8fdc\u89d2\u5ea6\u9010\u6b65\u5efa\u7acb\u5c55\u671b\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/3q_13_31\/?lang=zh-hans\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">3q13.31\u6b20\u5931\u75c7\u5019\u7fa4\u306b\u3064\u3044\u3066 <\/div>\n          <div class=\"blog-card-excerpt\">3q13.31\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u3001\u7b2c3\u67d3\u8272\u4f53\u306e\u9577\u8155\u306e\u4e00\u90e8\u304c\u6b20\u5931\u3059\u308b\u3053\u3068\u306b\u3088\u308b\u5e0c\u5c11\u75be\u60a3\u3067\u3001\u767a\u9054\u9045\u5ef6\u3084\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u3001\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u306a\u3069\u304c\u4e3b\u306a\u75c7\u72b6\u3067\u3059\u3002\u95a2\u9023...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"10_%E5%AF%B9%E5%AE%B6%E5%BA%AD%E7%9A%84%E6%94%AF%E6%8C%81%EF%BC%8C%E4%BB%A5%E5%8F%8A%E8%80%83%E8%99%91%E4%B8%8B%E4%B8%80%E8%83%8E%E6%97%B6\"><\/span><strong>10. \u5bf9\u5bb6\u5ead\u7684\u652f\u6301\uff0c\u4ee5\u53ca\u8003\u8651\u4e0b\u4e00\u80ce\u65f6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u7f55\u89c1\u75be\u75c5\u5e26\u6765\u7684\u5b64\u72ec\u611f\u53ef\u80fd\u4f1a\u5f88\u6c89\u91cd\uff0c\u4f46\u9057\u4f20\u54a8\u8be2\u3001\u60a3\u8005\u4f1a\u4ee5\u53ca\u516c\u5171\u54a8\u8be2\u7a97\u53e3\u7b49\u591a\u79cd\u53ef\u4ee5\u4f9d\u9760\u7684\u8d44\u6e90\u90fd\u662f\u5b58\u5728\u7684\u3002<\/strong><\/p>\n\n\n\n<p>\u5728\u8eab\u8fb9\u627e\u5230\u60a3\u6709\u76f8\u540c\u75be\u75c5\u5b69\u5b50\u7684\u5bb6\u5ead\u6216\u8bb8\u5e76\u4e0d\u5bb9\u6613\u3002\u5373\u4fbf\u5982\u6b64\uff0c\u67d3\u8272\u4f53\u76f8\u5173\u7f55\u89c1\u75be\u75c5\u60a3\u513f\u5bb6\u5ead\u4e4b\u95f4\u7684\u8054\u7cfb\uff0c\u4ee5\u53ca\u9057\u4f20\u54a8\u8be2\u7684\u4e13\u4e1a\u652f\u6301\uff0c\u90fd\u662f\u53ef\u4ee5\u5229\u7528\u7684\u8d44\u6e90\u3002\u533b\u7597\u65b9\u9762\u7684\u7ba1\u7406\u53ef\u4ee5\u4ea4\u7ed9\u533b\u751f\u548c\u5eb7\u590d\u8bad\u7ec3\u56e2\u961f\uff0c\u5bb6\u4eba\u7684\u89d2\u8272\uff0c\u6211\u8ba4\u4e3a\u5c31\u662f\u4e00\u8d77\u4e3a\u773c\u524d\u5b69\u5b50\u6bcf\u4e00\u70b9\u5c0f\u5c0f\u7684\u6210\u957f\u800c\u9ad8\u5174\u3002<\/p>\n\n\n\n<p>\u5173\u5fc3NIPT\u4e0e\u667a\u529b\u969c\u788d\u4e4b\u95f4\u5173\u7cfb\u7684\u8bfb\u8005\uff0c\u53ef\u4ee5\u53c2\u8003<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-beyond-down-syndrome-intellectual-disability\/?lang=zh-hans\">\u8fd9\u7bc7\u6587\u7ae0<\/a>\u3002\u62c5\u5fc3\u5fae\u7f3a\u5931\u76f8\u5173\u98ce\u9669\u7684\u8bfb\u8005\uff0c\u4e5f\u53ef\u4ee5\u4e00\u5e76\u67e5\u9605<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-microdeletion-risks\/?lang=zh-hans\">\u5173\u4e8e\u67d3\u8272\u4f53\u5fae\u5c0f\u5f02\u5e38\u98ce\u9669\u7684\u6587\u7ae0<\/a>\u3002<\/p>\n\n\n\n<div class=\"wp-block-buttons is-content-justification-center is-layout-flex wp-container-core-buttons-is-layout-16018d1d wp-block-buttons-is-layout-flex\">\n<div class=\"wp-block-button\"><a class=\"wp-block-button__link wp-element-button\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/line-registration\/?lang=zh-hans\" target=\"_blank\" rel=\"noopener\">\u901a\u8fc7LINE\u514d\u8d39\u54a8\u8be2<\/a><\/div>\n<\/div>\n\n\n\n<p>\u82e5\u8003\u8651\u4e3a\u4e0b\u4e00\u80ce\u8fdb\u884cNIPT\u68c0\u6d4b\uff0c\u65b9\u6848\u5185\u5bb9\u4f1a\u56e0\u6db5\u76d6\u591a\u5c11\u5fae\u7f3a\u5931\u68c0\u6d4b\u8303\u56f4\u800c\u6709\u6240\u4e0d\u540c\u3002\u5982\u679c\u4e0d\u6e05\u695a\u54ea\u79cd\u65b9\u6848\u9002\u5408\u81ea\u5df1\uff0c\u6b22\u8fce\u8bd5\u7528<strong><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/plan-finder\/?lang=en\">\u65b9\u6848\u8bca\u65ad\u5de5\u5177<\/a><\/strong>\u3002\u4e5f\u6b22\u8fce\u901a\u8fc7\u7535\u8bdd\u54a8\u8be2\uff0c\u8bf7\u968f\u65f6\u62e8\u6253<a href=\"tel:0120169629\">0120-169-629<\/a>\u4e0e\u6211\u4eec\u8054\u7cfb\u3002<\/p>\n\n\n\n<div class=\"wp-block-buttons is-content-justification-center is-layout-flex wp-container-core-buttons-is-layout-16018d1d wp-block-buttons-is-layout-flex\">\n<div class=\"wp-block-button\"><a class=\"wp-block-button__link wp-element-button\" href=\"https:\/\/mypage-nipt-reservation.hiro-clinic.or.jp\/registration\" target=\"_blank\" rel=\"noopener\">NIPT\u68c0\u6d4b\u9884\u7ea6<\/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=\"%E2%80%9Cqter%E2%80%9D%E6%98%AF%E4%BB%80%E4%B9%88%E6%84%8F%E6%80%9D%EF%BC%9F\"><\/span>&#8220;qter&#8221;\u662f\u4ec0\u4e48\u610f\u601d\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8fd9\u662f\u67d3\u8272\u4f53\u56fe\u8c31\u672f\u8bed\uff0c\u6307\u957f\u81c2\uff08q\uff09\u7684\u672b\u7aef\uff08\u7aef\u7c92\u4fa7\uff09\u3002&#8221;15q26-qter&#8221;\u8868\u793a15\u53f7\u67d3\u8272\u4f53\u957f\u81c226\u9644\u8fd1\u5230\u672b\u7aef\u8fde\u7eed\u7f3a\u5931\u7684\u72b6\u6001\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%94%9F%E9%95%BF%E6%BF%80%E7%B4%A0%E6%B2%BB%E7%96%97%E4%BB%8E%E4%BB%80%E4%B9%88%E6%97%B6%E5%80%99%E5%8F%AF%E4%BB%A5%E5%BC%80%E5%A7%8B%EF%BC%9F\"><\/span>\u751f\u957f\u6fc0\u7d20\u6cbb\u7597\u4ece\u4ec0\u4e48\u65f6\u5019\u53ef\u4ee5\u5f00\u59cb\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u4e00\u822c\u57283\u5c81\u4ee5\u540e\u3001\u7b26\u5408\u8eab\u6750\u77ee\u5c0f\u6807\u51c6\u65f6\u624d\u4f1a\u88ab\u8003\u8651\u3002\u5728\u65e5\u672c\uff0c\u53ef\u80fd\u901a\u8fc7&#8221;SGA\u6027\u77ee\u5c0f\u75c7&#8221;\u7b49\u9002\u5e94\u75c7\u63a5\u53d7\u6cbb\u7597\uff0c\u7531\u4e8e\u5f00\u59cb\u6cbb\u7597\u7684\u65f6\u673a\u5b58\u5728\u4e00\u5b9a\u6761\u4ef6\uff0c\u5efa\u8bae\u5c3d\u65e9\u4e0e\u5c0f\u513f\u5185\u5206\u6ccc\u79d1\u4e13\u79d1\u533b\u751f\u53d6\u5f97\u8054\u7cfb\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%B8%8E%E2%80%9D15q26%E8%BF%87%E5%BA%A6%E7%94%9F%E9%95%BF%E7%BB%BC%E5%90%88%E5%BE%81%E2%80%9D%E6%9C%89%E5%85%B3%E7%B3%BB%E5%90%97%EF%BC%9F\"><\/span>\u4e0e&#8221;15q26\u8fc7\u5ea6\u751f\u957f\u7efc\u5408\u5f81&#8221;\u6709\u5173\u7cfb\u5417\uff1f<span 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