{"id":84414,"date":"2024-11-15T14:14:48","date_gmt":"2024-11-15T05:14:48","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/11q22-2-q22-3-microdeletion-syndrome\/"},"modified":"2026-07-12T21:25:26","modified_gmt":"2026-07-12T12:25:26","slug":"11q22-2-q22-3-microdeletion-syndrome","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/11q22-2-q22-3-microdeletion-syndrome\/?lang=zh-hans","title":{"rendered":"11q22.2-q22.3\u5fae\u7f3a\u5931\u7efc\u5408\u5f81"},"content":{"rendered":"\n<p><strong>\u5982\u679c\u5728\u4ea7\u524d\u68c0\u67e5\u6216\u51fa\u751f\u540e\u7684\u67d3\u8272\u4f53\u68c0\u67e5\u4e2d\u770b\u5230&#8221;11q22.2-q22.3\u5fae\u7f3a\u5931\u7efc\u5408\u5f81&#8221;\u8fd9\u4e2a\u964c\u751f\u7684\u8bca\u65ad\u540d\u79f0\uff0c\u611f\u5230\u56f0\u60d1\u662f\u5f88\u6b63\u5e38\u7684\u3002<\/strong><\/p>\n\n\n\n<p><strong>\u5148\u8bf4\u7ed3\u8bba\u3002\u8fd9\u662f\u4e00\u79cd\u6781\u4e3a\u7f55\u89c1\u7684\u67d3\u8272\u4f53\u75be\u75c5\uff0c\u753111\u53f7\u67d3\u8272\u4f53\u957f\u81c222.2\u81f322.3\u533a\u57df\u5148\u5929\u6027\u5fae\u5c0f\u7f3a\u5931\u6240\u5f15\u8d77\u3002<\/strong>\u9664\u4e86\u53d1\u80b2\u8fdf\u7f13\u548c\u7279\u5f81\u6027\u9762\u90e8\u7279\u5f81\u5916\uff0c\u6839\u636e\u7f3a\u5931\u8303\u56f4\u7684\u4e0d\u540c\uff0c\u8fd8\u9700\u8981\u9488\u5bf9\u672a\u6765\u80bf\u7624\u98ce\u9669\u8fdb\u884c\u957f\u671f\u968f\u8bbf\u7ba1\u7406\u3002<\/p>\n\n\n\n<p>\u672c\u6587\u5c06\u7cfb\u7edf\u68b3\u7406\u5f15\u8d77\u672c\u75c5\u7684\u67d3\u8272\u4f53\u53d8\u5316\u3001\u5bb9\u6613\u4e0e\u4e4b\u6df7\u6dc6\u7684&#8221;11q\u672b\u7aef\u7f3a\u5931\uff08\u96c5\u5404\u5e03\u68ee\u7efc\u5408\u5f81\uff09&#8221;\u7684\u533a\u522b\u3001\u4e3b\u8981\u75c7\u72b6\u3001\u9057\u4f20\u65b9\u5f0f\u3001\u4e0e\u4ea7\u524d\u8bca\u65ad\u53caNIPT\u7684\u5173\u7cfb\u3001\u786e\u8bca\u6d41\u7a0b\uff0c\u4ee5\u53ca\u6cbb\u7597\u4e0e\u672a\u6765\u7684\u80bf\u7624\u7b5b\u67e5\u3002\u5185\u5bb9\u53c2\u8003GARD\uff08\u7f8e\u56fd\u56fd\u7acb\u536b\u751f\u7814\u7a76\u9662\uff09\u3001Orphanet\u53ca\u5b66\u672f\u8bba\u6587\u7b49\u516c\u5f00\u3001\u6743\u5a01\u4fe1\u606f\u6765\u6e90\u3002\u7531\u4e8e\u8fd9\u662f\u4fe1\u606f\u7a00\u5c11\u7684\u7f55\u89c1\u75be\u75c5\uff0c\u6211\u4eec\u5c06\u9010\u4e00\u4e3a\u60a8\u68b3\u7406\u6e05\u695a\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\u5185\u5bb9\u4e00\u89c8<\/p>\n<ul style=\"margin:0;padding-left:1.2em;\">\n<li>11q22.2-q22.3\u5fae\u7f3a\u5931\u7efc\u5408\u5f81\u662f\u600e\u6837\u7684\u67d3\u8272\u4f53\u53d8\u5316\uff08ATM\u57fa\u56e0\u3001SDHD\u57fa\u56e0\u4e0e\u7f3a\u5931\u8303\u56f4\u7684\u5927\u81f4\u60c5\u51b5\uff09<\/li>\n<li>\u4e0e\u5bb9\u6613\u6df7\u6dc6\u7684&#8221;11q\u672b\u7aef\u7f3a\u5931\uff08\u96c5\u5404\u5e03\u68ee\u7efc\u5408\u5f81\uff09&#8221;\u6709\u4f55\u4e0d\u540c<\/li>\n<li>\u53d1\u80b2\u8fdf\u7f13\u3001\u7279\u5f81\u6027\u9762\u90e8\u7279\u5f81\u7b49\u5df2\u62a5\u544a\u7684\u4e3b\u8981\u75c7\u72b6<\/li>\n<li>\u9057\u4f20\u65b9\u5f0f\uff08\u65b0\u53d1\u7a81\u53d8\u4e0e\u5bb6\u65cf\u5185\u9057\u4f20\uff09\u4ee5\u53ca\u5bf9\u4e0b\u4e00\u80ce\u7684\u5f71\u54cd<\/li>\n<li>\u4ea7\u524d\u8bca\u65ad\u3001NIPT\u5728\u54ea\u4e9b\u60c5\u51b5\u4e0b\u6db5\u76d6\u672c\u75c5\u3001\u54ea\u4e9b\u60c5\u51b5\u4e0b\u4e0d\u6db5\u76d6<\/li>\n<li>\u6cbb\u7597\u7684\u57fa\u672c\u601d\u8def\uff0c\u4ee5\u53ca\u5305\u62ec\u672a\u6765\u80bf\u7624\u7b5b\u67e5\u5728\u5185\u7684\u957f\u671f\u968f\u8bbf\u5185\u5bb9<\/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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class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/11q22-2-q22-3-microdeletion-syndrome\/?lang=zh-hans\/#3_%E4%B8%BB%E8%A6%81%E7%97%87%E7%8A%B6\" >3. \u4e3b\u8981\u75c7\u72b6<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/11q22-2-q22-3-microdeletion-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%B8%B8%E6%9F%93%E8%89%B2%E4%BD%93%E6%98%BE%E6%80%A7%E9%81%97%E4%BC%A0%EF%BC%89\" >4. \u75c5\u56e0\u4e0e\u9057\u4f20\u65b9\u5f0f\uff08\u65b0\u53d1\u7a81\u53d8\u4e0e\u5e38\u67d3\u8272\u4f53\u663e\u6027\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-6\" 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/11q22-2-q22-3-microdeletion-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\/11q22-2-q22-3-microdeletion-syndrome\/?lang=zh-hans\/#6_%E7%A1%AE%E8%AF%8A%E5%89%8D%E7%9A%84%E6%A3%80%E6%9F%A5%E6%B5%81%E7%A8%8B\" >6. \u786e\u8bca\u524d\u7684\u68c0\u67e5\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\/11q22-2-q22-3-microdeletion-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\/11q22-2-q22-3-microdeletion-syndrome\/?lang=zh-hans\/#FISH%E6%B3%95%E4%B8%8E%E7%88%B6%E6%AF%8D%E6%A3%80%E6%9F%A5\" >FISH\u6cd5\u4e0e\u7236\u6bcd\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\/11q22-2-q22-3-microdeletion-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\/11q22-2-q22-3-microdeletion-syndrome\/?lang=zh-hans\/#7_%E6%B2%BB%E7%96%97%E4%B8%8E%E6%9C%AA%E6%9D%A5%E7%9A%84%E8%82%BF%E7%98%A4%E7%AD%9B%E6%9F%A5\" >7. \u6cbb\u7597\u4e0e\u672a\u6765\u7684\u80bf\u7624\u7b5b\u67e5<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/11q22-2-q22-3-microdeletion-syndrome\/?lang=zh-hans\/#8_%E9%A2%84%E5%90%8E%E4%B8%8E%E5%B1%95%E6%9C%9B\" >8. \u9884\u540e\u4e0e\u5c55\u671b<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-15\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/11q22-2-q22-3-microdeletion-syndrome\/?lang=zh-hans\/#9_%E7%BB%99%E5%AE%B6%E5%B1%9E%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%E7%9A%84%E5%BB%BA%E8%AE%AE\" >9. \u7ed9\u5bb6\u5c5e\u7684\u652f\u6301\uff0c\u4ee5\u53ca\u8003\u8651\u4e0b\u4e00\u80ce\u65f6\u7684\u5efa\u8bae<\/a><\/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\/11q22-2-q22-3-microdeletion-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-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/11q22-2-q22-3-microdeletion-syndrome\/?lang=zh-hans\/#11q222-q223%E5%BE%AE%E7%BC%BA%E5%A4%B1%E7%BB%BC%E5%90%88%E5%BE%81%E4%B8%8E11q%E6%9C%AB%E7%AB%AF%E7%BC%BA%E5%A4%B1%EF%BC%88%E9%9B%85%E5%90%84%E5%B8%83%E6%A3%AE%E7%BB%BC%E5%90%88%E5%BE%81%EF%BC%89%E6%98%AF%E5%90%8C%E4%B8%80%E7%A7%8D%E7%96%BE%E7%97%85%E5%90%97%EF%BC%9F\" >11q22.2-q22.3\u5fae\u7f3a\u5931\u7efc\u5408\u5f81\u4e0e11q\u672b\u7aef\u7f3a\u5931\uff08\u96c5\u5404\u5e03\u68ee\u7efc\u5408\u5f81\uff09\u662f\u540c\u4e00\u79cd\u75be\u75c5\u5417\uff1f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-18\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/11q22-2-q22-3-microdeletion-syndrome\/?lang=zh-hans\/#%E8%BF%99%E7%A7%8D%E7%96%BE%E7%97%85%E7%9A%84%E5%8F%91%E7%94%9F%E9%A2%91%E7%8E%87%E6%9C%89%E5%A4%9A%E9%AB%98%EF%BC%9F\" >\u8fd9\u79cd\u75be\u75c5\u7684\u53d1\u751f\u9891\u7387\u6709\u591a\u9ad8\uff1f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-19\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/11q22-2-q22-3-microdeletion-syndrome\/?lang=zh-hans\/#NIPT%E8%83%BD%E6%A3%80%E6%B5%8B%E5%87%BA%E8%BF%99%E7%A7%8D%E7%96%BE%E7%97%85%E5%90%97%EF%BC%9F\" >NIPT\u80fd\u68c0\u6d4b\u51fa\u8fd9\u79cd\u75be\u75c5\u5417\uff1f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-20\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/11q22-2-q22-3-microdeletion-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-21\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/11q22-2-q22-3-microdeletion-syndrome\/?lang=zh-hans\/#%E9%80%9A%E8%BF%87%E4%BB%80%E4%B9%88%E6%A3%80%E6%9F%A5%E5%8F%AF%E4%BB%A5%E7%A1%AE%E8%AF%8A%EF%BC%9F\" >\u901a\u8fc7\u4ec0\u4e48\u68c0\u67e5\u53ef\u4ee5\u786e\u8bca\uff1f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-22\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/11q22-2-q22-3-microdeletion-syndrome\/?lang=zh-hans\/#%E5%90%AC%E8%AF%B4%E6%9C%AA%E6%9D%A5%E5%8F%AF%E8%83%BD%E6%9C%89%E6%82%A3%E7%99%8C%E9%A3%8E%E9%99%A9%EF%BC%8C%E6%98%AF%E7%9C%9F%E7%9A%84%E5%90%97%EF%BC%9F\" >\u542c\u8bf4\u672a\u6765\u53ef\u80fd\u6709\u60a3\u764c\u98ce\u9669\uff0c\u662f\u771f\u7684\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%AF11q222-q223%E5%BE%AE%E7%BC%BA%E5%A4%B1%E7%BB%BC%E5%90%88%E5%BE%81%EF%BC%88%E5%BC%95%E8%B5%B7%E6%9C%AC%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\u662f11q22.2-q22.3\u5fae\u7f3a\u5931\u7efc\u5408\u5f81\uff08\u5f15\u8d77\u672c\u75c5\u7684\u67d3\u8272\u4f53\u53d8\u5316\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>11q22.2-q22.3\u5fae\u7f3a\u5931\u7efc\u5408\u5f81\u662f\u4e00\u79cd\u90bb\u8fd1\u57fa\u56e0\u7efc\u5408\u5f81\uff0c\u753111\u53f7\u67d3\u8272\u4f53\u957f\u81c222.2\u81f322.3\u533a\u57df\u5148\u5929\u6027\u7f3a\u5931\u6240\u5f15\u8d77\u3002<\/strong>\u4e5f\u53ef\u8868\u8bb0\u4e3a&#8221;11q22.2-q22.3\u7f3a\u5931\u7efc\u5408\u5f81&#8221;\u6216&#8221;del(11)(q22.2q22.3)&#8221;\u3002<\/p>\n\n\n\n<p>\u7f8e\u56fd\u5b66\u672f\u671f\u520a\u62a5\u544a\u76845\u4f8b\u75c5\u4f8b\u5206\u6790\u663e\u793a\uff0c\u7f3a\u5931\u8303\u56f4\u56e0\u75c5\u4f8b\u800c\u5f02\uff0c\u4ecb\u4e8e8.6Mb\uff08\u5146\u78b1\u57fa\uff09\u81f3\u7ea614Mb\u4e4b\u95f4\uff0c\u8fdc\u7aef\u65ad\u88c2\u70b9\u7684\u4f4d\u7f6e\u5927\u81f4\u76f8\u8fd1\u3002\u8be5\u533a\u57df\u901a\u5e38\u5305\u542b\u53c2\u4e0eDNA\u4fee\u590d\u7684ATM\u57fa\u56e0\uff08\u4f4d\u4e8e11q22.3\u9644\u8fd1\uff09\u4ee5\u53ca\u4e0e\u80bf\u7624\u53d1\u751f\u76f8\u5173\u7684SDHD\u57fa\u56e0\uff08\u4f4d\u4e8e11q23.1\u9644\u8fd1\uff09\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"ATM%E5%9F%BA%E5%9B%A0%E4%B8%8ESDHD%E5%9F%BA%E5%9B%A0%E7%9A%84%E4%BD%9C%E7%94%A8\"><\/span><strong>ATM\u57fa\u56e0\u4e0eSDHD\u57fa\u56e0\u7684\u4f5c\u7528<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>ATM\u57fa\u56e0\u901a\u5e38\u53ea\u6709\u5728\u4e24\u4e2a\u62f7\u8d1d\u540c\u65f6\u53d1\u751f\u53d8\u5f02\u65f6\uff0c\u624d\u4f1a\u5bfc\u81f4\u53e6\u4e00\u79cd\u75be\u75c5\u2014\u2014\u6bdb\u7ec6\u8840\u7ba1\u6269\u5f20\u6027\u5171\u6d4e\u5931\u8c03\u75c7\uff08A-T\uff09\u3002\u82e5\u4ec5\u56e0\u5fae\u7f3a\u5931\u4e22\u5931\u4e00\u4e2a\u62f7\u8d1d\uff0c\u5219\u4e0d\u4f1a\u53d1\u75c5\u4e3aA-T\u672c\u8eab\uff0c\u4f46\u5b66\u672f\u754c\u6b63\u5728\u8ba8\u8bba\u5176\u662f\u5426\u4f1a\u4f7f\u7f79\u60a3\u67d0\u4e9b\u764c\u75c7\u7684\u6613\u611f\u6027\u7565\u6709\u5347\u9ad8\u3002<\/p>\n\n\n\n<p>SDHD\u57fa\u56e0\u4e0e\u9057\u4f20\u6027\u526f\u795e\u7ecf\u8282\u7624\u30fb\u55dc\u94ec\u7ec6\u80de\u7624\u7efc\u5408\u5f81\u76f8\u5173\u3002<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/25735893\/\" target=\"_blank\" rel=\"noopener\">2015\u5e74\u53d1\u8868\u4e8e\u7f8e\u56fd\u533b\u5b66\u9057\u4f20\u5b66\u4e13\u4e1a\u671f\u520a\u7684\u75c5\u4f8b\u7cfb\u5217\u7814\u7a76<\/a>\u663e\u793a\uff0c\u7eb3\u5165\u7814\u7a76\u76845\u4f8b\u53d1\u80b2\u8fdf\u7f13\u60a3\u8005\u7684\u7f3a\u5931\u533a\u57df\u5747\u5305\u542bSDHD\u57fa\u56e0\uff0c\u7814\u7a76\u6307\u51fa\u6210\u5e74\u540e\u9700\u8981\u8fdb\u884c\u80bf\u7624\u7b5b\u67e5\u3002<\/p>\n\n\n\n<p>\u6c47\u603b\u7f55\u89c1\u75c5\u4fe1\u606f\u7684<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/21858\/11q222q223-microdeletion-syndrome\" target=\"_blank\" rel=\"noopener\">GARD\uff08\u7f8e\u56fd\u56fd\u7acb\u536b\u751f\u7814\u7a76\u9662\u7f55\u89c1\u75c5\u4fe1\u606f\u4e2d\u5fc3\uff09<\/a>\u5c06\u8f7b\u5ea6\u667a\u529b\u969c\u788d\u3001\u53d1\u80b2\u8fdf\u7f13\u3001\u8eab\u6750\u77ee\u5c0f\u3001\u808c\u5f20\u529b\u4f4e\u4e0b\u3001\u7279\u5f81\u6027\u9762\u90e8\u7279\u5f81\u5217\u4e3a\u672c\u75c5\u7684\u7279\u70b9\u3002\u6839\u636e\u6b27\u6d32\u7f55\u89c1\u75c5\u6570\u636e\u5e93<a href=\"https:\/\/www.orpha.net\/en\/disease\/detail\/444002\" target=\"_blank\" rel=\"noopener\">Orphanet\uff08ORPHA:444002\uff09<\/a>\u7684\u6570\u636e\uff0c\u5168\u7403\u60a3\u75c5\u7387\u4e0d\u8db3\u767e\u4e07\u5206\u4e4b\u4e00\uff0c\u662f\u6781\u4e3a\u7f55\u89c1\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%AE%B9%E6%98%93%E6%B7%B7%E6%B7%86%E7%9A%84%E2%80%9D11q%E6%9C%AB%E7%AB%AF%E7%BC%BA%E5%A4%B1%EF%BC%88%E9%9B%85%E5%90%84%E5%B8%83%E6%A3%AE%E7%BB%BC%E5%90%88%E5%BE%81%EF%BC%89%E2%80%9D%E6%9C%89%E4%BD%95%E4%B8%8D%E5%90%8C\"><\/span><strong>2. \u4e0e\u5bb9\u6613\u6df7\u6dc6\u7684&#8221;11q\u672b\u7aef\u7f3a\u5931\uff08\u96c5\u5404\u5e03\u68ee\u7efc\u5408\u5f81\uff09&#8221;\u6709\u4f55\u4e0d\u540c<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u5373\u4f7f\u540c\u6837\u662f11\u53f7\u67d3\u8272\u4f53\u957f\u81c2\u7684\u5f02\u5e38\uff0c\u7f3a\u5931\u7684\u4f4d\u7f6e\u548c\u8303\u56f4\u4e0d\u540c\uff0c\u75be\u75c5\u540d\u79f0\u548c\u8868\u73b0\u51fa\u7684\u75c7\u72b6\u4e5f\u4f1a\u5b8c\u5168\u4e0d\u540c\u3002<\/strong>\u5c24\u5176\u9700\u8981\u4e0e11\u53f7\u67d3\u8272\u4f53\u672b\u7aef\uff08\u7aef\u7c92\u4fa7\uff09\u6574\u4f53\u4e22\u5931\u7684&#8221;\u96c5\u5404\u5e03\u68ee\u7efc\u5408\u5f81&#8221;\u660e\u786e\u533a\u5206\u3002<\/p>\n\n\n\n<figure class=\"wp-table-block\"><table><thead><tr><th>\u6bd4\u8f83\u9879\u76ee<\/th><th>11q22.2-q22.3\u5fae\u7f3a\u5931\u7efc\u5408\u5f81\uff08\u672c\u6587\uff09<\/th><th>\u96c5\u5404\u5e03\u68ee\u7efc\u5408\u5f81\uff0811q\u672b\u7aef\u7f3a\u5931\uff09<\/th><\/tr><\/thead><tbody><tr><td>\u7f3a\u5931\u4f4d\u7f6e<\/td><td>\u957f\u81c2\u4e2d\u6bb5\uff0822.2\u301c22.3\uff09\u90e8\u5206\u7f3a\u5931\u7684&#8221;\u4e2d\u95f4\u7f3a\u5931&#8221;<\/td><td>\u957f\u81c2\u672b\u7aef\uff0823\u9644\u8fd1\u81f3\u7aef\u7c92\uff09\u6574\u4f53\u4e22\u5931\u7684&#8221;\u672b\u7aef\u7f3a\u5931&#8221;<\/td><\/tr><tr><td>\u76f8\u5173\u4e3b\u8981\u57fa\u56e0<\/td><td>ATM\u3001SDHD\u7b49<\/td><td>FLI1\u3001ETS1\u7b49\u66f4\u5e7f\u8303\u56f4\u7684\u591a\u4e2a\u57fa\u56e0<\/td><\/tr><tr><td>\u62a5\u544a\u75c5\u4f8b\u6570<\/td><td>\u5168\u7403\u62a5\u544a\u75c5\u4f8b\u6781\u5c11\u7684\u8d85\u7f55\u89c1\u75be\u75c5<\/td><td>\u8f83\u4e3a\u5e38\u89c1\u768411\u53f7\u67d3\u8272\u4f53\u7f3a\u5931\u7efc\u5408\u5f81\uff0c\u62a5\u544a\u75c5\u4f8b\u8f83\u591a<\/td><\/tr><tr><td>\u4ee3\u8868\u6027\u75c7\u72b6<\/td><td>\u8f7b\u81f3\u4e2d\u5ea6\u667a\u529b\u969c\u788d\u3001\u53d1\u80b2\u8fdf\u7f13\u3001\u7279\u5f81\u6027\u9762\u90e8\u7279\u5f81<\/td><td>\u8840\u5c0f\u677f\u51cf\u5c11\uff08\u5df4\u9ece-\u56fe\u5362\u5179\u7efc\u5408\u5f81\u578b\uff09\u3001\u5fc3\u810f\u75be\u75c5\u3001\u66f4\u4e25\u91cd\u7684\u53d1\u80b2\u8fdf\u7f13<\/td><\/tr><tr><td>\u672a\u6765\u80bf\u7624\u98ce\u9669<\/td><td>\u5408\u5e76SDHD\u7f3a\u5931\u65f6\u9700\u76d1\u6d4b\u526f\u795e\u7ecf\u8282\u7624\u7b49<\/td><td>\u4ee5\u8840\u6db2\u75be\u75c5\u3001\u5fc3\u810f\u75be\u75c5\u7684\u7ba1\u7406\u4e3a\u4e3b<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<p>\u7531\u4e8e\u4e24\u8005\u90fd\u4f7f\u7528&#8221;11q&#8221;\u8fd9\u4e00\u8868\u8bb0\u65b9\u5f0f\uff0c\u4ec5\u51ed\u68c0\u67e5\u7ed3\u679c\u5f88\u5bb9\u6613\u88ab\u8bef\u8ba4\u4e3a\u662f\u540c\u4e00\u79cd\u75be\u75c5\u3002\u901a\u8fc7\u67d3\u8272\u4f53\u5fae\u9635\u5217\u68c0\u67e5\uff08CMA\uff09\u786e\u8ba4\u7f3a\u5931\u7684\u7cbe\u786e\u4f4d\u7f6e\u548c\u8303\u56f4\uff0c\u624d\u80fd\u5224\u65ad\u7a76\u7adf\u5c5e\u4e8e\u54ea\u4e00\u79cd\u75be\u75c5\u3002\u8bf7\u52a1\u5fc5\u4e0e\u4e3b\u6cbb\u533b\u751f\u4e00\u540c\u786e\u8ba4\u68c0\u67e5\u62a5\u544a\u4e2d\u8bb0\u8f7d\u7684\u7cbe\u786e\u5750\u6807\u3002<\/p>\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\"><\/span><strong>3. \u4e3b\u8981\u75c7\u72b6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u4e3b\u8981\u8868\u73b0\u4e3a\u53d1\u80b2\u8fdf\u7f13\u3001\u8f7b\u81f3\u4e2d\u5ea6\u667a\u529b\u969c\u788d\u3001\u7279\u5f81\u6027\u9762\u90e8\u7279\u5f81\uff0c\u4e2a\u4f53\u5dee\u5f02\u8f83\u5927\u3002<\/strong>GARD\u6839\u636e\u65e2\u5f80\u75c5\u4f8b\u603b\u7ed3\u4e86\u4ee5\u4e0b\u7279\u70b9\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u53d1\u80b2\u8fdf\u7f13\u30fb\u667a\u529b\u969c\u788d\uff1a\u8bed\u8a00\u53d1\u80b2\u548c\u8fd0\u52a8\u529f\u80fd\u53d1\u80b2\u51fa\u73b0\u8fdf\u7f13\uff0c\u591a\u6570\u4f34\u6709\u8f7b\u81f3\u4e2d\u5ea6\u667a\u529b\u969c\u788d\u3002<\/li>\n\n\n\n<li>\u808c\u5f20\u529b\u4f4e\u4e0b\uff1a\u5a74\u513f\u671f\u8eab\u4f53\u53ef\u80fd\u663e\u5f97\u8f83\u4e3a\u677e\u8f6f\uff0c\u51fa\u73b0\u54fa\u4e73\u3001\u8fdb\u98df\u56f0\u96be\u7684\u60c5\u51b5\u3002<\/li>\n\n\n\n<li>\u7279\u5f81\u6027\u9762\u90e8\u7279\u5f81\uff1a\u9f3b\u6881\u4f4e\u5e73\u3001\u5185\u7726\u8d58\u76ae\u3001\u8033\u4f4d\u504f\u4f4e\u3001\u4e0b\u988c\u8f83\u5c0f\u3001\u4e0a\u5507\u8584\u3001\u773c\u7751\u4e0b\u5782\u3001\u659c\u89c6\u7b49\u5747\u6709\u62a5\u544a\u3002<\/li>\n\n\n\n<li>\u8eab\u6750\u77ee\u5c0f\uff1a\u6574\u4f53\u4f53\u683c\u504f\u5c0f\u7684\u60c5\u51b5\u6709\u6240\u62a5\u544a\u3002<\/li>\n\n\n\n<li>\u884c\u4e3a\u30fb\u7cbe\u795e\u65b9\u9762\u7684\u7279\u5f81\uff1a\u7126\u8651\u503e\u5411\u660e\u663e\u3001\u6ce8\u610f\u529b\u6301\u7eed\u65f6\u95f4\u77ed\u3001\u6ce8\u610f\u529b\u7f3a\u9677\u591a\u52a8\u969c\u788d\u3001\u766b\u75eb\u7b49\u4e5f\u5305\u542b\u5728\u65e2\u5f80\u75c5\u4f8b\u4e2d\u3002<\/li>\n\n\n\n<li>\u5176\u4ed6\uff1a\u624b\u6307\u77ed\u5c0f\uff08\u77ed\u6307\u75c7\uff09\u3001\u624b\u6307\u5f2f\u66f2\uff08\u659c\u6307\u75c7\uff09\u3001\u6d41\u6d8e\u8f83\u591a\u7b49\u4e5f\u6709\u62a5\u544a\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u7531\u4e8e\u75c5\u4f8b\u6570\u672c\u8eab\u5f88\u5c11\uff0c\u5e76\u975e\u6240\u6709\u60a3\u8005\u90fd\u4f1a\u51fa\u73b0\u4e0a\u8ff0\u5168\u90e8\u75c7\u72b6\u3002\u9700\u8981\u786e\u8ba4\u6bcf\u4f4d\u60a3\u513f\u5177\u4f53\u7684\u75c7\u72b6\u7ec4\u5408\uff0c\u5e76\u6839\u636e\u5176\u6210\u957f\u60c5\u51b5\u5224\u65ad\u6240\u9700\u7684\u652f\u6301\u3002\u5173\u4e8e\u53d1\u80b2\u65b9\u9762\u7684\u7279\u5f81\uff0c\u4e5f\u53ef\u53c2\u9605<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-autism-developmental-disorders-detection\/\">\u5173\u4e8eNIPT\u4e0e\u53d1\u80b2\u969c\u788d\u30fb\u81ea\u95ed\u75c7\u7684\u6587\u7ae0<\/a>\u53ca<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-intellectual-disability-traits-development\/\">\u5173\u4e8eNIPT\u6240\u80fd\u4e86\u89e3\u7684\u667a\u529b\u969c\u788d\u771f\u5b9e\u60c5\u51b5\u7684\u6587\u7ae0<\/a>\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%B8%B8%E6%9F%93%E8%89%B2%E4%BD%93%E6%98%BE%E6%80%A7%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\u5e38\u67d3\u8272\u4f53\u663e\u6027\u9057\u4f20\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u591a\u6570\u75c5\u4f8b\u4e3a\u5076\u53d1\u6027\u65b0\u53d1\u7a81\u53d8\uff08de novo\uff09\uff0c\u4f46\u4e5f\u6709\u4ece\u7236\u6bcd\u4e00\u65b9\u9057\u4f20\u7684\u5bb6\u65cf\u5185\u9057\u4f20\u75c5\u4f8b\u62a5\u544a\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\u8fc7\u7a0b\u4e2d\uff0c\u6709\u65f6\u4f1a\u5076\u7136\u53d1\u751f\u7c7b\u4f3c\u590d\u5236\u9519\u8bef\u7684\u53d8\u5316\u3002\u8fd9\u4e0e\u5b55\u671f\u7684\u996e\u98df\u3001\u751f\u6d3b\u4e60\u60ef\u6216\u5de5\u4f5c\u7b49\u56e0\u7d20\u65e0\u5173\u3002\u6211\u5728\u95e8\u8bca\u4e2d\u603b\u4f1a\u660e\u786e\u544a\u8bc9\u5bb6\u957f\uff0c\u5b8c\u5168\u4e0d\u5fc5\u81ea\u8d23\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%AE%B6%E6%97%8F%E5%86%85%E9%81%97%E4%BC%A0%E7%9A%84%E6%83%85%E5%86%B5%E4%B8%8E%E5%B8%B8%E6%9F%93%E8%89%B2%E4%BD%93%E6%98%BE%E6%80%A7%E9%81%97%E4%BC%A0\"><\/span><strong>\u5bb6\u65cf\u5185\u9057\u4f20\u7684\u60c5\u51b5\u4e0e\u5e38\u67d3\u8272\u4f53\u663e\u6027\u9057\u4f20<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u7531\u4e8e\u672c\u75c5\u5c5e\u4e8e\u67d3\u8272\u4f53\u7ed3\u6784\u5f02\u5e38\uff0cOrphanet\u7684\u5206\u7c7b\u4e2d\uff0c\u5bb6\u65cf\u5185\u9057\u4f20\u7684\u65b9\u5f0f\u4e5f\u88ab\u89c6\u4e3a\u7b26\u5408\u5e38\u67d3\u8272\u4f53\u663e\u6027\u9057\u4f20\u7684\u6a21\u5f0f\u3002\u82e5\u7236\u6bcd\u4e00\u65b9\u643a\u5e26\u76f8\u540c\u7684\u7f3a\u5931\uff0c\u5219\u4e0b\u4e00\u80ce\u9057\u4f20\u7684\u6982\u7387\u7ea6\u4e3a\u4e8c\u5206\u4e4b\u4e00\u3002<\/p>\n\n\n\n<p>\u90e8\u5206\u643a\u5e26\u8be5\u7f3a\u5931\u7684\u7236\u6bcd\u672c\u8eab\u75c7\u72b6\u6781\u8f7b\uff0c\u672a\u88ab\u8bca\u65ad\u51fa\u6765\u3002\u5f53\u5b69\u5b50\u7684\u8bca\u65ad\u786e\u5b9a\u540e\uff0c\u5bf9\u7236\u6bcd\u53cc\u65b9\u8fdb\u884c\u67d3\u8272\u4f53\u5fae\u9635\u5217\u68c0\u67e5\uff0c\u5373\u53ef\u5224\u65ad\u662f\u65b0\u53d1\u7a81\u53d8\u8fd8\u662f\u5bb6\u65cf\u5185\u9057\u4f20\uff0c\u8fd9\u662f\u51c6\u786e\u638c\u63e1\u5bf9\u4e0b\u4e00\u80ce\u5f71\u54cd\u7684\u91cd\u8981\u4e00\u6b65\u3002\u82e5\u5173\u5fc3\u4e0b\u4e00\u80ce\u7684\u60c5\u51b5\uff0c\u5efa\u8bae\u54a8\u8be2\u4e34\u5e8a\u9057\u4f20\u4e13\u79d1\u533b\u751f\u6216\u8ba4\u8bc1\u9057\u4f20\u54a8\u8be2\u5e08\uff0c\u63a5\u53d7\u9057\u4f20\u54a8\u8be2\u3002<\/p>\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>11q22.2-q22.3\u7684\u7f3a\u5931\u57fa\u672c\u4e0d\u5728\u5e38\u89c4NIPT\u7684\u68c0\u6d4b\u8303\u56f4\u4e4b\u5185\uff0c\u53ea\u6709\u5c06\u8303\u56f4\u6269\u5927\u5230\u5fae\u7f3a\u5931\u7684\u6269\u5c55\u68c0\u6d4b\u624d\u6709\u53ef\u80fd\u6db5\u76d6\u8be5\u533a\u57df\u3002<\/strong><\/p>\n\n\n\n<p>\u5e38\u89c4\u57fa\u7840NIPT\u4e3b\u8981\u68c0\u6d4b21\u300118\u300113\u4e09\u4f53\u8fd9\u7c7b\u67d3\u8272\u4f53&#8221;\u6570\u76ee&#8221;\u5f02\u5e38\u3002\u90e8\u5206\u5957\u9910\u4e5f\u6db5\u76d622q11.2\u7f3a\u5931\u7efc\u5408\u5f81\u7b49\u76f8\u5bf9\u9ad8\u53d1\u7684\u5fae\u7f3a\u5931\uff0c\u4f46\u50cf11q22.2-q22.3\u8fd9\u6837\u7684\u8d85\u7f55\u89c1\u4e2d\u95f4\u7f3a\u5931\uff0c\u5f80\u5f80\u4e0d\u5728\u68c0\u6d4b\u8303\u56f4\u4e4b\u5185\u3002Hiro Clinic NIPT\u63d0\u4f9b\u6db5\u76d6143\u79cd\u9879\u76ee\uff08\u5305\u62ec\u5fae\u7f3a\u5931\u30fb\u5fae\u91cd\u590d\uff09\u7684\u6269\u5c55\u68c0\u6d4b\uff0c\u8fd9\u7c7b\u7f55\u89c1\u7f3a\u5931\u4e5f\u6709\u53ef\u80fd\u88ab\u7eb3\u5165\u8be5\u6269\u5c55\u68c0\u6d4b\u7684\u8303\u56f4\u3002<\/p>\n\n\n\n<p>\u9700\u8981\u7279\u522b\u6ce8\u610f\u7684\u662f\uff0c<strong>NIPT\u7ec8\u7a76\u53ea\u662f\u4e00\u79cd\u975e\u786e\u5b9a\u6027\u7684\u7b5b\u67e5\u68c0\u6d4b<\/strong>\u3002\u65e5\u672c\u4ea7\u79d1\u5987\u4eba\u79d1\u5b66\u4f1a\u53d1\u5e03\u7684<a href=\"https:\/\/www.jsog.or.jp\/news\/pdf\/NIPT_kaiteishishin.pdf\" target=\"_blank\" rel=\"noopener\">NIPT\u76f8\u5173\u6307\u5357<\/a>\u4e2d\u4e5f\u660e\u786e\u6307\u51fa\uff0cNIPT\u7684\u7ed3\u679c\u4ec5\u5c5e\u4e8e\u7b5b\u67e5\u68c0\u6d4b\u8303\u7574\uff0c\u5e76\u975e\u786e\u5b9a\u8bca\u65ad\u3002\u65e5\u672c\u539a\u751f\u52b3\u52a8\u7701<a href=\"https:\/\/www.mhlw.go.jp\/content\/000783387.pdf\" target=\"_blank\" rel=\"noopener\">\u5173\u4e8eNIPT\u7b49\u4ea7\u524d\u68c0\u6d4b\u7684\u4e13\u95e8\u59d4\u5458\u4f1a\u62a5\u544a\u4e66<\/a>\u4e5f\u6307\u51fa\uff0c\u5305\u542b\u5fae\u7f3a\u5931\u7684\u6269\u5c55\u68c0\u6d4b\u5728\u5206\u6790\u6709\u6548\u6027\u548c\u4e34\u5e8a\u6709\u6548\u6027\u65b9\u9762\u5b58\u5728\u5c40\u9650\u3002<\/p>\n\n\n\n<p>\u82e5NIPT\u68c0\u6d4b\u51fa\u6d89\u53ca11q\u533a\u57df\u7684\u5fae\u7f3a\u5931\u9633\u6027\u7ed3\u679c\uff0c\u9996\u5148\u5e94\u901a\u8fc7\u9057\u4f20\u54a8\u8be2\u786e\u8ba4\u7ed3\u679c\u7684\u542b\u4e49\u3002\u4e4b\u540e\u518d\u4e0e\u914d\u5076\u5546\u8bae\uff0c\u5224\u65ad\u662f\u5426\u9700\u8981\u901a\u8fc7\u7f8a\u6c34\u7a7f\u523a\u8fdb\u884c\u67d3\u8272\u4f53\u5fae\u9635\u5217\u68c0\u67e5\uff08CMA\uff09\u52a0\u4ee5\u786e\u8bca\u3002\u7531\u4e8e\u672c\u75c5\u662f\u8d85\u7f55\u89c1\u75be\u75c5\uff0c\u51fa\u73b0\u9633\u6027\u7ed3\u679c\u65f6\u5207\u52ff\u8d38\u7136\u4e0b\u7ed3\u8bba\uff0c\u8bf7\u4e0e\u4e13\u79d1\u533b\u751f\u4e00\u540c\u9010\u6b65\u68b3\u7406\u786e\u8ba4\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/9q33-3q34-11-microdeletion-syndrome\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u65e9\u671f\u4e73\u5150\u3066\u3093\u304b\u3093\u6027\u8133\u75c74\u578b (EIEE4; Early Infantile Epileptic Encephalopathy 4) <\/div>\n          <div class=\"blog-card-excerpt\">STXBP1\u8133\u75c7\uff08\u3066\u3093\u304b\u3093\u3092\u4f34\u3046\uff09\u306f\u3001\u767a\u9054\u9045\u5ef6\u3001\u77e5\u7684\u969c\u5bb3\u3001\u7672\u7647\u3001\u904b\u52d5\u969c\u5bb3\u306a\u3069\u3001\u591a\u5c90\u306b\u308f\u305f\u308b\u75c7\u72b6\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002\u8a3a\u65ad\u3001\u6cbb\u7642\u6cd5\u3001\u907a\u4f1d\u7684\u80cc\u666f\u306b\u95a2...<\/div>\n      <\/div>\n    <\/a>\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%A3%80%E6%9F%A5%E6%B5%81%E7%A8%8B\"><\/span><strong>6. \u786e\u8bca\u524d\u7684\u68c0\u67e5\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\u624b\u6bb5\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>\u8be5\u68c0\u67e5\u53ef\u4ee5\u68c0\u6d4b\u51fa\u4f20\u7edf\u663e\u5fae\u955c\u67d3\u8272\u4f53\u68c0\u67e5\uff08G\u663e\u5e26\u6cd5\uff09\u65e0\u6cd5\u53d1\u73b0\u7684\u3001\u6570\u767ekb\u81f3\u6570Mb\u5355\u4f4d\u7684\u5fae\u5c0f\u7f3a\u5931\u3002\u4ea7\u524d\u901a\u8fc7\u7f8a\u6c34\u7a7f\u523a\u3001\u51fa\u751f\u540e\u901a\u8fc7\u8840\u6db2\u68c0\u67e5\u8fdb\u884c\uff0c\u80fd\u591f\u8be6\u7ec6\u786e\u8ba4\u7f3a\u5931\u7684\u8d77\u6b62\u8303\u56f4\u3002\u8fd9\u4e00\u8303\u56f4\u4fe1\u606f\u6b63\u662f\u4e0e\u524d\u8ff0\u96c5\u5404\u5e03\u68ee\u7efc\u5408\u5f81\u52a0\u4ee5\u533a\u5206\u7684\u5173\u952e\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"FISH%E6%B3%95%E4%B8%8E%E7%88%B6%E6%AF%8D%E6%A3%80%E6%9F%A5\"><\/span><strong>FISH\u6cd5\u4e0e\u7236\u6bcd\u68c0\u67e5<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6709\u65f6\u4e5f\u4f1a\u91c7\u7528\u4ec5\u4f7f\u7279\u5b9a\u533a\u57df\u53d1\u5149\u663e\u793a\u7684FISH\u6cd5\u6765\u8f85\u52a9\u786e\u8bca\u3002\u540c\u65f6\u68c0\u6d4b\u7236\u6bcd\u53cc\u65b9\u7684\u8840\u6db2\uff0c\u53ef\u4ee5\u5224\u65ad\u662f\u65b0\u53d1\u7a81\u53d8\u8fd8\u662f\u5bb6\u65cf\u5185\u9057\u4f20\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\u9700\u7ed3\u5408\u53d1\u80b2\u68c0\u67e5\u3001\u4f53\u683c\u68c0\u67e5\u4ee5\u53ca\u6839\u636eATM\u3001SDHD\u7f3a\u5931\u60c5\u51b5\u8fdb\u884c\u7684\u80bf\u7624\u98ce\u9669\u8bc4\u4f30\u7b49\uff0c\u7efc\u5408\u628a\u63e1\u60a3\u513f\u7684\u6574\u4f53\u72b6\u51b5\u3002\u5b9a\u671f\u968f\u8bbf\u89c2\u5bdf\u5728\u6b64\u8fc7\u7a0b\u4e2d\u4e0d\u53ef\u6216\u7f3a\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%9C%AA%E6%9D%A5%E7%9A%84%E8%82%BF%E7%98%A4%E7%AD%9B%E6%9F%A5\"><\/span><strong>7. \u6cbb\u7597\u4e0e\u672a\u6765\u7684\u80bf\u7624\u7b5b\u67e5<\/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\u4ee5\u53ca\u9488\u5bf9SDHD\u76f8\u5173\u80bf\u7624\u7684\u957f\u671f\u76d1\u6d4b\uff0c\u53ef\u4ee5\u5e2e\u52a9\u60a3\u513f\u5065\u5eb7\u6210\u957f\u3002<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u53d1\u80b2\u652f\u6301\uff08\u65e9\u671f\u5e72\u9884\uff09<\/strong>\uff1a\u901a\u8fc7\u7269\u7406\u6cbb\u7597\uff08PT\uff09\u3001\u4f5c\u4e1a\u6cbb\u7597\uff08OT\uff09\u3001\u8bed\u8a00\u6cbb\u7597\uff08ST\uff09\u7b49\uff0c\u5e2e\u52a9\u4fc3\u8fdb\u8fd0\u52a8\u3001\u8bed\u8a00\u53ca\u751f\u6d3b\u81ea\u7406\u80fd\u529b\u7684\u53d1\u5c55\u3002<\/li>\n\n\n\n<li><strong>\u884c\u4e3a\u65b9\u9762\u7684\u652f\u6301<\/strong>\uff1a\u82e5\u6ce8\u610f\u529b\u7f3a\u9677\u591a\u52a8\u969c\u788d\u6216\u7126\u8651\u503e\u5411\u8f83\u4e3a\u660e\u663e\uff0c\u53ef\u8003\u8651\u4e0e\u513f\u7ae5\u7cbe\u795e\u79d1\u6216\u53d1\u80b2\u95e8\u8bca\u8054\u5408\u652f\u6301\u3002<\/li>\n\n\n\n<li><strong>\u672a\u6765\u7684\u80bf\u7624\u7b5b\u67e5<\/strong>\uff1a\u82e5\u7f3a\u5931\u6d89\u53caSDHD\u57fa\u56e0\uff0c\u636e\u62a5\u544a\u6210\u5e74\u540e\u5efa\u8bae\u5b9a\u671f\u8fdb\u884c\u5f71\u50cf\u5b66\u68c0\u67e5\u3001\u8840\u6db2\u68c0\u67e5\uff0c\u4ee5\u4fbf\u53ca\u65e9\u53d1\u73b0\u526f\u795e\u7ecf\u8282\u7624\uff08\u55dc\u94ec\u7ec6\u80de\u7624\uff09\u3002<\/li>\n\n\n\n<li><strong>\u6559\u80b2\u73af\u5883\u7684\u9009\u62e9<\/strong>\uff1a\u53ef\u4e0e\u5f53\u5730\u6559\u80b2\u4e2d\u5fc3\u534f\u5546\uff0c\u6839\u636e\u60a3\u513f\u7684\u7279\u70b9\u9009\u62e9\u7279\u6b8a\u6559\u80b2\u5b66\u6821\u3001\u7279\u6b8a\u6559\u80b2\u73ed\u7ea7\u3001\u8d44\u6e90\u6559\u5ba4\u7b49\u9002\u5408\u7684\u5b66\u4e60\u573a\u6240\u3002<\/li>\n<\/ul>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2026\/01\/26422695_s-2.webp\" alt=\"\u5b55\u5987\u4e0e\u4f34\u4fa3\u5728\u9057\u4f20\u54a8\u8be2\u4e2d\u786e\u8ba4\u67d3\u8272\u4f53\u68c0\u67e5\u7ed3\u679c\u7684\u793a\u610f\u56fe\" class=\"wp-image-124429\"\/><\/figure><\/div>\n\n\n<p>\u7531\u4e8e\u6bcf\u4f4d\u60a3\u513f\u75c7\u72b6\u7684\u7ec4\u5408\u4e0e\u4e25\u91cd\u7a0b\u5ea6\u90fd\u4e0d\u5c3d\u76f8\u540c\uff0c\u672c\u75c5\u5e76\u6ca1\u6709\u56fa\u5b9a\u7684\u75c5\u7a0b\u8d70\u5411\u3002\u5c0f\u513f\u795e\u7ecf\u79d1\u3001\u9057\u4f20\u79d1\uff0c\u4ee5\u53ca\u5fc5\u8981\u65f6\u80bf\u7624\u5185\u79d1\u7b49\u591a\u4e2a\u79d1\u5ba4\u4f1a\u5171\u540c\u534f\u4f5c\uff0c\u9010\u6b65\u4e3a\u60a3\u513f\u5236\u5b9a\u91cf\u8eab\u5b9a\u5236\u7684\u652f\u6301\u65b9\u6848\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"8_%E9%A2%84%E5%90%8E%E4%B8%8E%E5%B1%95%E6%9C%9B\"><\/span><strong>8. \u9884\u540e\u4e0e\u5c55\u671b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u591a\u6570\u62a5\u544a\u663e\u793a\u667a\u529b\u969c\u788d\u7a0b\u5ea6\u7ef4\u6301\u5728\u8f7b\u81f3\u4e2d\u5ea6\uff0c\u65e9\u671f\u5f00\u5c55\u7684\u5eb7\u590d\u8bad\u7ec3\u4ee5\u53ca\u6210\u5e74\u540e\u6301\u7eed\u7684\u80bf\u7624\u7b5b\u67e5\uff0c\u5c06\u51b3\u5b9a\u60a3\u8005\u7684\u751f\u6d3b\u8d28\u91cf\u3002<\/strong><\/p>\n\n\n\n<p>\u636e\u65e2\u5f80\u75c5\u4f8b\u62a5\u544a\uff0c\u5373\u4fbf\u7f3a\u5931\u8303\u56f4\u8d85\u8fc78Mb\uff0c\u667a\u529b\u969c\u788d\u7684\u7a0b\u5ea6\u591a\u6570\u4ecd\u7ef4\u6301\u5728\u76f8\u5bf9\u8f83\u8f7b\u7684\u6c34\u5e73\u3002\u53e6\u4e00\u65b9\u9762\uff0c\u82e5\u5408\u5e76SDHD\u57fa\u56e0\u7f3a\u5931\uff0c\u6210\u5e74\u540e\u6301\u7eed\u8fdb\u884c\u80bf\u7624\u6709\u65e0\u7684\u68c0\u67e5\u540c\u6837\u4e0d\u53ef\u6216\u7f3a\u3002<\/p>\n\n\n\n<p>\u7531\u4e8e\u76ee\u524d\u75c5\u4f8b\u6570\u8f83\u5c11\uff0c\u5728\u73b0\u9636\u6bb5\u7684\u7814\u7a76\u4e2d\u5f88\u96be\u5bf9\u957f\u671f\u75c5\u7a0b\u505a\u51fa\u660e\u786e\u5224\u65ad\u3002\u5173\u952e\u5728\u4e8e\u5b9a\u671f\u7684\u53d1\u80b2\u8bc4\u4f30\u4e0e\u80bf\u7624\u7b5b\u67e5\u5e26\u6765\u7684\u65e9\u671f\u53d1\u73b0\uff0c\u4ee5\u53ca\u65e5\u5e38\u5e94\u5bf9\u7684\u6301\u7eed\u79ef\u7d2f\uff0c\u8fd9\u624d\u662f\u4fdd\u6301\u751f\u6d3b\u8d28\u91cf\u7684\u73b0\u5b9e\u9014\u5f84\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"9_%E7%BB%99%E5%AE%B6%E5%B1%9E%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%E7%9A%84%E5%BB%BA%E8%AE%AE\"><\/span><strong>9. \u7ed9\u5bb6\u5c5e\u7684\u652f\u6301\uff0c\u4ee5\u53ca\u8003\u8651\u4e0b\u4e00\u80ce\u65f6\u7684\u5efa\u8bae<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u8d85\u7f55\u89c1\u75be\u75c5\u6240\u5e26\u6765\u7684\u5b64\u72ec\u611f\u5f80\u5f80\u8f83\u4e3a\u5f3a\u70c8\uff0c\u4f46\u9057\u4f20\u54a8\u8be2\u3001\u60a3\u8005\u4e92\u52a9\u4f1a\u3001\u516c\u5171\u54a8\u8be2\u7a97\u53e3\u7b49\uff0c\u90fd\u662f\u53ef\u4ee5\u4f9d\u9760\u7684\u8d44\u6e90\u3002<\/strong><\/p>\n\n\n\n<p>\u5728\u8eab\u8fb9\u627e\u5230\u60a3\u6709\u76f8\u540c\u75be\u75c5\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\u8005\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\u52a0\u5229\u7528\u7684\u8d44\u6e90\u3002\u533b\u7597\u65b9\u9762\u7684\u7ba1\u7406\u53ef\u4ee5\u4ea4\u7531\u533b\u751f\u548c\u5eb7\u590d\u4eba\u5458\u8d1f\u8d23\uff0c\u5bb6\u4eba\u7684\u89d2\u8272\uff0c\u6211\u8ba4\u4e3a\u662f\u4e0e\u5b69\u5b50\u4e00\u8d77\u5206\u4eab\u773c\u524d\u6bcf\u4e00\u70b9\u5fae\u5c0f\u7684\u6210\u957f\u4e0e\u8fdb\u6b65\u3002<\/p>\n\n\n\n<p>\u5982\u679c\u60a8\u8fd8\u5173\u5fc3\u5176\u4ed6\u5fae\u7f3a\u5931\u7efc\u5408\u5f81\uff0c\u6216\u5bb9\u6613\u4e0e\u672c\u75c5\u6df7\u6dc6\u7684\u67d3\u8272\u4f53\u5f02\u5e38\uff0c\u4e5f\u8bf7\u4e00\u5e76\u53c2\u8003\u4ee5\u4e0b\u5185\u5bb9\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/xq28-deletion-syndrome\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u67d3\u8272\u4f53Xq28\u6b20\u5931\u75c7\u5019\u7fa4\uff5c\u539f\u56e0\u30fb\u75c7\u72b6\u3068NIPT\u306e\u95a2\u4fc2 <\/div>\n          <div class=\"blog-card-excerpt\">Xq28\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u3001X\u67d3\u8272\u4f53\u306e\u907a\u4f1d\u7684\u6b20\u5931\u306b\u3088\u3063\u3066\u767a\u751f\u3057\u3001\u767a\u9054\u9045\u5ef6\u3001\u77e5\u7684\u969c\u5bb3\u3001\u884c\u52d5\u7570\u5e38\u306a\u3069\u306e\u75c7\u72b6\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002\u9069\u5207\u306a\u7642\u80b2\u3068\u533b\u7642\u652f\u63f4\u306b\u3088\u308a...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n    <a href=\"\/nipt\/17q12-deletion-syndrome\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">17q12 \u6b20\u5931\u75c7\u5019\u7fa4 <\/div>\n          <div class=\"blog-card-excerpt\">17q12\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u814e\u7570\u5e38\u3084\u7cd6\u5c3f\u75c5\u3001\u767a\u9054\u9045\u5ef6\u306a\u3069\u3092\u5f15\u304d\u8d77\u3053\u3059\u907a\u4f1d\u75be\u60a3\u3067\u3001\u65e9\u671f\u8a3a\u65ad\u3068\u652f\u63f4\u304c\u751f\u6d3b\u306e\u8cea\u5411\u4e0a\u306b\u7e4b\u304c\u308a\u307e\u3059\u3002\u9069\u5207\u306a\u533b\u7642\u7ba1\u7406\u304c\u5fc5\u8981\u3067\u3001...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<p>\u82e5\u60a8\u5bf9\u5fae\u7f3a\u5931\u6574\u4f53\u5b58\u5728\u62c5\u5fe7\uff0c\u4e5f\u53ef\u53c2\u8003<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-microdeletion-risks\/?lang=zh-hans\">\u5173\u4e8e\u67d3\u8272\u4f53\u5fae\u5c0f\u5f02\u5e38\u6240\u5e26\u6765\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\u5957\u9910\u6240\u6db5\u76d6\u7684\u5fae\u7f3a\u5931\u8303\u56f4\u5c06\u76f4\u63a5\u5f71\u54cd\u65b9\u6848\u7684\u9009\u62e9\u3002\u82e5\u4e0d\u786e\u5b9a\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\u53ef\u901a\u8fc7\u7535\u8bdd\u54a8\u8be2\uff0c\u6b22\u8fce\u968f\u65f6\u62e8\u6253<a href=\"tel:0120169629\">0120-169-629<\/a>\u8054\u7cfb\u6211\u4eec\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\u5de5\u5177\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=\"11q222-q223%E5%BE%AE%E7%BC%BA%E5%A4%B1%E7%BB%BC%E5%90%88%E5%BE%81%E4%B8%8E11q%E6%9C%AB%E7%AB%AF%E7%BC%BA%E5%A4%B1%EF%BC%88%E9%9B%85%E5%90%84%E5%B8%83%E6%A3%AE%E7%BB%BC%E5%90%88%E5%BE%81%EF%BC%89%E6%98%AF%E5%90%8C%E4%B8%80%E7%A7%8D%E7%96%BE%E7%97%85%E5%90%97%EF%BC%9F\"><\/span>11q22.2-q22.3\u5fae\u7f3a\u5931\u7efc\u5408\u5f81\u4e0e11q\u672b\u7aef\u7f3a\u5931\uff08\u96c5\u5404\u5e03\u68ee\u7efc\u5408\u5f81\uff09\u662f\u540c\u4e00\u79cd\u75be\u75c5\u5417\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u4e24\u8005\u662f\u4e0d\u540c\u7684\u75be\u75c5\u3002\u672c\u6587\u6240\u8ff0\u75be\u75c5\u5c5e\u4e8e\u957f\u81c2\u4e2d\u6bb5\u90e8\u5206\u7f3a\u5931\u7684&#8221;\u4e2d\u95f4\u7f3a\u5931&#8221;\uff0c\u800c\u96c5\u5404\u5e03\u68ee\u7efc\u5408\u5f81\u5219\u662f\u67d3\u8272\u4f53\u672b\u7aef\u6574\u4f53\u4e22\u5931\u7684&#8221;\u672b\u7aef\u7f3a\u5931&#8221;\u3002\u76f8\u5173\u57fa\u56e0\u53ca\u6613\u51fa\u73b0\u7684\u75c7\u72b6\u5747\u4e0d\u76f8\u540c\uff0c\u9700\u8981\u901a\u8fc7\u67d3\u8272\u4f53\u5fae\u9635\u5217\u68c0\u67e5\u786e\u8ba4\u7f3a\u5931\u8303\u56f4\u6765\u52a0\u4ee5\u533a\u5206\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%BF%99%E7%A7%8D%E7%96%BE%E7%97%85%E7%9A%84%E5%8F%91%E7%94%9F%E9%A2%91%E7%8E%87%E6%9C%89%E5%A4%9A%E9%AB%98%EF%BC%9F\"><\/span>\u8fd9\u79cd\u75be\u75c5\u7684\u53d1\u751f\u9891\u7387\u6709\u591a\u9ad8\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6839\u636eOrphanet\u7684\u6570\u636e\uff0c\u672c\u75c5\u5c5e\u4e8e\u8d85\u7f55\u89c1\u75be\u75c5\uff0c\u5168\u7403\u60a3\u75c5\u7387\u4e0d\u8db3\u767e\u4e07\u5206\u4e4b\u4e00\u3002\u7531\u4e8e\u62a5\u544a\u75c5\u4f8b\u672c\u8eab\u8f83\u5c11\uff0c\u76ee\u524d\u5c1a\u672a\u786e\u7acb\u51c6\u786e\u7684\u53d1\u751f\u9891\u7387\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"NIPT%E8%83%BD%E6%A3%80%E6%B5%8B%E5%87%BA%E8%BF%99%E7%A7%8D%E7%96%BE%E7%97%85%E5%90%97%EF%BC%9F\"><\/span>NIPT\u80fd\u68c0\u6d4b\u51fa\u8fd9\u79cd\u75be\u75c5\u5417\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u901a\u5e38\u4e0d\u5728\u5e38\u89c4NIPT\u7684\u68c0\u6d4b\u8303\u56f4\u4e4b\u5185\uff0c\u4f46\u5728\u5c06\u8303\u56f4\u6269\u5927\u5230\u5fae\u7f3a\u5931\u7684\u6269\u5c55\u68c0\u6d4b\u4e2d\uff0c\u6709\u53ef\u80fd\u88ab\u7eb3\u5165\u5019\u9009\u8303\u56f4\u3002\u7531\u4e8eNIPT\u5c5e\u4e8e\u975e\u786e\u5b9a\u6027\u68c0\u6d4b\uff0c\u82e5\u51fa\u73b0\u9633\u6027\u7ed3\u679c\uff0c\u9700\u8981\u901a\u8fc7\u7f8a\u6c34\u7a7f\u523a\u7b49\u786e\u8bca\u68c0\u67e5\u6765\u5224\u65ad\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%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\"><\/span>\u8fd9\u662f\u9057\u4f20\u6027\u75be\u75c5\u5417\uff1f\u4f1a\u5f71\u54cd\u4e0b\u4e00\u80ce\u5417\uff1f<span 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