{"id":84032,"date":"2024-11-15T16:07:23","date_gmt":"2024-11-15T07:07:23","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/22q13-duplication-syndrome\/"},"modified":"2026-07-12T21:19:16","modified_gmt":"2026-07-12T12:19:16","slug":"22q13-duplication-syndrome","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/22q13-duplication-syndrome\/?lang=zh-hans","title":{"rendered":"22q13\u91cd\u590d\u7efc\u5408\u75c7"},"content":{"rendered":"\n<p><strong>\u5982\u679c\u60a8\u5728\u5b69\u5b50\u7684\u68c0\u67e5\u7ed3\u679c\u4e2d\u770b\u5230&#8221;22q13\u91cd\u590d\u7efc\u5408\u5f81&#8221;\u8fd9\u4e2a\u964c\u751f\u7684\u75c5\u540d\uff0c\u611f\u5230\u56f0\u60d1\u548c\u4e0d\u5b89\u662f\u5f88\u6b63\u5e38\u7684\u3002<\/strong><\/p>\n\n\n\n<p><strong>\u5148\u8bf4\u7ed3\u8bba\u3002\u8fd9\u662f\u4e00\u79cd\u753122\u53f7\u67d3\u8272\u4f53\u957f\u81c2\u4e0a\u768422q13\u533a\u57df\u591a\u51fa\u4e00\u4efd\u62f7\u8d1d\uff08\u91cd\u590d\uff09\u800c\u5f15\u8d77\u7684\u67d3\u8272\u4f53\u75be\u75c5\uff0c\u4e0e\u540d\u79f0\u76f8\u4f3c\u7684&#8221;22q13\u7f3a\u5931\u7efc\u5408\u5f81\uff08Phelan-McDermid\u7efc\u5408\u5f81\uff09&#8221;\u5728\u75c5\u56e0\u548c\u5178\u578b\u75c7\u72b6\u4e0a\u5747\u4e0d\u76f8\u540c\u3002<\/strong>\u6839\u636e\u91cd\u590d\u533a\u57df\u7684\u5927\u5c0f\u53ca\u6240\u6d89\u53ca\u7684\u57fa\u56e0\u4e0d\u540c\uff0c\u75c7\u72b6\u8303\u56f4\u975e\u5e38\u5e7f\u6cdb\u2014\u2014\u4ece\u8f7b\u5fae\u7684\u8bed\u8a00\u53d1\u80b2\u8fdf\u7f13\uff0c\u5230\u8f83\u4e3a\u660e\u663e\u7684\u53d1\u80b2\u8fdf\u7f13\u90fd\u6709\u53ef\u80fd\u3002<\/p>\n\n\n\n<p>\u672c\u6587\u5c06\u6574\u7406\u5bfc\u81f4\u8be5\u75c5\u7684\u67d3\u8272\u4f53\u53d8\u5316\u3001\u4e0e\u5bb9\u6613\u6df7\u6dc6\u7684&#8221;22q13\u7f3a\u5931\u7efc\u5408\u5f81&#8221;\u4e4b\u95f4\u7684\u533a\u522b\u3001\u75c7\u72b6\u8303\u56f4\u3001\u9057\u4f20\u65b9\u5f0f\u4e0e\u5065\u5eb7\u643a\u5e26\u8005\u7684\u53ef\u80fd\u6027\u3001\u4e0e\u4ea7\u524d\u8bca\u65ad\u53caNIPT\u7684\u5173\u7cfb\u3001\u786e\u8bca\u6d41\u7a0b\uff0c\u4ee5\u53ca\u6cbb\u7597\u4e0e\u5bb6\u5ead\u652f\u6301\u7b49\u5185\u5bb9\u3002\u5185\u5bb9\u53c2\u8003\u4e86\u7f8e\u56fdNIH\u57fa\u56e0\u68c0\u6d4b\u767b\u8bb0\u5904\uff08GTR\uff09\u3001\u53d1\u8868\u4e8eMolecular 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style=\"margin:0;padding-left:1.2em;\">\n<li>22q13\u91cd\u590d\u7efc\u5408\u5f81\u662f\u600e\u6837\u7684\u67d3\u8272\u4f53\u53d8\u5316<\/li>\n<li>\u4e0e\u5bb9\u6613\u6df7\u6dc6\u7684&#8221;22q13\u7f3a\u5931\u7efc\u5408\u5f81\uff08Phelan-McDermid\u7efc\u5408\u5f81\uff09&#8221;\u6709\u4f55\u4e0d\u540c<\/li>\n<li>\u4e3a\u4ec0\u4e48\u75c7\u72b6\u8303\u56f4\u5982\u6b64\u5e7f\u6cdb\uff0c\u4e3a\u4f55\u4f1a\u5b58\u5728\u65e0\u75c7\u72b6\u7684\u643a\u5e26\u8005<\/li>\n<li>\u9057\u4f20\u65b9\u5f0f\uff08\u65b0\u53d1\u7a81\u53d8\u4e0e\u5bb6\u65cf\u9057\u4f20\uff09\u53ca\u5bf9\u4e0b\u4e00\u80ce\u7684\u5f71\u54cd<\/li>\n<li>\u4ea7\u524d\u8bca\u65ad\u3001NIPT\u80fd\u5426\u68c0\u6d4b\u51fa\u8fd9\u79cd\u75be\u75c5<\/li>\n<li>\u786e\u8bca\u540e\u7684\u6cbb\u7597\u65b9\u9488\u53ca\u5bb6\u5ead\u652f\u6301\u7684\u53ef\u9009\u65b9\u6848<\/li>\n<\/ul>\n<\/div>\n\n\n\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/31279739_s.jpg\" alt=\"\u5750\u8f6e\u6905\u7684\u7956\u6bcd\u4e0e\u5c0f\u5973\u5b69\" class=\"wp-image-87062\"\/><\/figure><\/div>\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 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\u4e0e&#8221;22q13\u7f3a\u5931\u7efc\u5408\u5f81\uff08Phelan-McDermid\u7efc\u5408\u5f81\uff09&#8221;\u7684\u533a\u522b\uff08\u6613\u6df7\u6dc6\uff0c\u9700\u6ce8\u610f\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\/22q13-duplication-syndrome\/?lang=zh-hans\/#3_%E4%B8%BB%E8%A6%81%E7%97%87%E7%8A%B6%EF%BC%88%E4%B8%AA%E4%BD%93%E5%B7%AE%E5%BC%82%E8%BE%83%E5%A4%A7%EF%BC%89\" >3. \u4e3b\u8981\u75c7\u72b6\uff08\u4e2a\u4f53\u5dee\u5f02\u8f83\u5927\uff09<\/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\/22q13-duplication-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%E3%80%81%E5%AE%B6%E6%97%8F%E9%81%97%E4%BC%A0%E4%B8%8E%E5%81%A5%E5%BA%B7%E6%90%BA%E5%B8%A6%E8%80%85%EF%BC%89\" >4. \u75c5\u56e0\u4e0e\u9057\u4f20\u65b9\u5f0f\uff08\u65b0\u53d1\u7a81\u53d8\u3001\u5bb6\u65cf\u9057\u4f20\u4e0e\u5065\u5eb7\u643a\u5e26\u8005\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\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/22q13-duplication-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-7\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/22q13-duplication-syndrome\/?lang=zh-hans\/#%E6%9D%A5%E8%87%AA%E7%88%B6%E6%AF%8D%E4%B8%80%E6%96%B9%E7%9A%84%E5%B9%B3%E8%A1%A1%E5%9E%8B%E7%BB%93%E6%9E%84%E5%BC%82%E5%B8%B8%EF%BC%88%E6%98%93%E4%BD%8D%E3%80%81%E5%80%92%E4%BD%8D%EF%BC%89\" 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/22q13-duplication-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\/22q13-duplication-syndrome\/?lang=zh-hans\/#FISH%E6%B3%95%E3%80%81G%E6%98%BE%E5%B8%A6%E6%B3%95%E5%8F%8A%E7%88%B6%E6%AF%8D%E6%A3%80%E6%B5%8B\" >FISH\u6cd5\u3001G\u663e\u5e26\u6cd5\u53ca\u7236\u6bcd\u68c0\u6d4b<\/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\/22q13-duplication-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\/22q13-duplication-syndrome\/?lang=zh-hans\/#7_%E6%B2%BB%E7%96%97%E4%B8%8E%E6%94%AF%E6%8C%81%EF%BC%88%E6%97%A9%E6%9C%9F%E5%B9%B2%E9%A2%84%E4%B8%8E%E5%AF%B9%E7%97%87%E5%A4%84%E7%90%86%EF%BC%89\" >7. \u6cbb\u7597\u4e0e\u652f\u6301\uff08\u65e9\u671f\u5e72\u9884\u4e0e\u5bf9\u75c7\u5904\u7406\uff09<\/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\/22q13-duplication-syndrome\/?lang=zh-hans\/#%E6%97%A9%E6%9C%9F%E5%B9%B2%E9%A2%84%E4%B8%8E%E5%BA%B7%E5%A4%8D%E8%AE%AD%E7%BB%83\" >\u65e9\u671f\u5e72\u9884\u4e0e\u5eb7\u590d\u8bad\u7ec3<\/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\/22q13-duplication-syndrome\/?lang=zh-hans\/#%E7%97%87%E7%8A%B6%E8%BE%83%E8%BD%BB%E6%97%B6%E7%9A%84%E5%BA%94%E5%AF%B9%E6%96%B9%E5%BC%8F\" >\u75c7\u72b6\u8f83\u8f7b\u65f6\u7684\u5e94\u5bf9\u65b9\u5f0f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/22q13-duplication-syndrome\/?lang=zh-hans\/#%E6%97%A5%E5%B8%B8%E7%94%9F%E6%B4%BB%E4%B8%AD%E7%9A%84%E6%B3%A8%E6%84%8F%E4%BA%8B%E9%A1%B9\" >\u65e5\u5e38\u751f\u6d3b\u4e2d\u7684\u6ce8\u610f\u4e8b\u9879<\/a><\/li><\/ul><\/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\/22q13-duplication-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-18\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/22q13-duplication-syndrome\/?lang=zh-hans\/#9_%E5%AE%B6%E5%BA%AD%E6%94%AF%E6%8C%81%E4%B8%8E%E8%80%83%E8%99%91%E4%B8%8B%E4%B8%80%E8%83%8E%E6%97%B6\" >9. \u5bb6\u5ead\u652f\u6301\u4e0e\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\/22q13-duplication-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\/22q13-duplication-syndrome\/?lang=zh-hans\/#22q13%E9%87%8D%E5%A4%8D%E7%BB%BC%E5%90%88%E5%BE%81%E6%98%AF%E4%B8%80%E7%A7%8D%E6%80%8E%E6%A0%B7%E7%9A%84%E7%96%BE%E7%97%85%EF%BC%9F\" >22q13\u91cd\u590d\u7efc\u5408\u5f81\u662f\u4e00\u79cd\u600e\u6837\u7684\u75be\u75c5\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\/22q13-duplication-syndrome\/?lang=zh-hans\/#%E8%BF%99%E4%B8%8E22q13%E7%BC%BA%E5%A4%B1%E7%BB%BC%E5%90%88%E5%BE%81%EF%BC%88Phelan-McDermid%E7%BB%BC%E5%90%88%E5%BE%81%EF%BC%89%E6%98%AF%E4%B8%8D%E5%90%8C%E7%9A%84%E7%96%BE%E7%97%85%E5%90%97%EF%BC%9F\" >\u8fd9\u4e0e22q13\u7f3a\u5931\u7efc\u5408\u5f81\uff08Phelan-McDermid\u7efc\u5408\u5f81\uff09\u662f\u4e0d\u540c\u7684\u75be\u75c5\u5417\uff1f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-22\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/22q13-duplication-syndrome\/?lang=zh-hans\/#NIPT%E8%83%BD%E6%A3%80%E6%B5%8B%E5%87%BA22q13%E9%87%8D%E5%A4%8D%E7%BB%BC%E5%90%88%E5%BE%81%E5%90%97%EF%BC%9F\" >NIPT\u80fd\u68c0\u6d4b\u51fa22q13\u91cd\u590d\u7efc\u5408\u5f81\u5417\uff1f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-23\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/22q13-duplication-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%E6%98%AF%E5%90%A6%E5%AD%98%E5%9C%A8%E5%81%A5%E5%BA%B7%E6%90%BA%E5%B8%A6%E8%80%85%EF%BC%9F\" >\u8fd9\u662f\u9057\u4f20\u6027\u75be\u75c5\u5417\uff1f\u4f1a\u5f71\u54cd\u4e0b\u4e00\u80ce\u5417\uff1f\u662f\u5426\u5b58\u5728\u5065\u5eb7\u643a\u5e26\u8005\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\/22q13-duplication-syndrome\/?lang=zh-hans\/#%E9%80%9A%E8%BF%87%E5%93%AA%E4%BA%9B%E6%A3%80%E6%9F%A5%E5%8F%AF%E4%BB%A5%E7%A1%AE%E8%AF%8A%EF%BC%9F\" >\u901a\u8fc7\u54ea\u4e9b\u68c0\u67e5\u53ef\u4ee5\u786e\u8bca\uff1f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-25\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/22q13-duplication-syndrome\/?lang=zh-hans\/#%E7%97%87%E7%8A%B6%E6%9C%89%E5%A4%9A%E4%B8%A5%E9%87%8D%EF%BC%9F%E6%98%AF%E5%90%A6%E5%AD%98%E5%9C%A8%E6%8E%A5%E8%BF%91%E5%81%A5%E5%BA%B7%E5%8F%91%E8%82%B2%E7%9A%84%E7%97%85%E4%BE%8B%EF%BC%9F\" >\u75c7\u72b6\u6709\u591a\u4e25\u91cd\uff1f\u662f\u5426\u5b58\u5728\u63a5\u8fd1\u5065\u5eb7\u53d1\u80b2\u7684\u75c5\u4f8b\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%AF22q13%E9%87%8D%E5%A4%8D%E7%BB%BC%E5%90%88%E5%BE%81%EF%BC%88SHANK3%E5%8C%BA%E5%9F%9F%E9%87%8D%E5%A4%8D%EF%BC%89\"><\/span><strong>1. \u4ec0\u4e48\u662f22q13\u91cd\u590d\u7efc\u5408\u5f81\uff08SHANK3\u533a\u57df\u91cd\u590d\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>22\u53f7\u67d3\u8272\u4f53\u957f\u81c2\u4e0a\u768422q13\u533a\u57df\u591a\u51fa\u4e00\u4efd\u62f7\u8d1d\uff0c\u5bfc\u81f4\u4e0e\u795e\u7ecf\u7ec6\u80de\u53d1\u80b2\u76f8\u5173\u7684\u57fa\u56e0\u8fc7\u5ea6\u8868\u8fbe\uff0c\u4ece\u800c\u5bf9\u53d1\u80b2\u548c\u884c\u4e3a\u4ea7\u751f\u5404\u79cd\u5f71\u54cd\u7684\u67d3\u8272\u4f53\u75be\u75c5\u3002<\/strong><\/p>\n\n\n\n<p>\u4eba\u4f53\u7ec6\u80de\u4e2d\u901a\u5e38\u542b\u670946\u6761\uff0823\u5bf9\uff09\u67d3\u8272\u4f53\u3002\u4f4d\u4e8e22\u53f7\u67d3\u8272\u4f53\u957f\u81c2\u672b\u7aef\u7684SHANK3\u57fa\u56e0\uff0c\u662f\u795e\u7ecf\u7ec6\u80de\u4e4b\u95f4\u5f62\u6210&#8221;\u7a81\u89e6&#8221;\u8fde\u63a5\u6240\u9700\u7684\u8bbe\u8ba1\u56fe\u3002\u7f8e\u56fd\u56fd\u7acb\u536b\u751f\u7814\u7a76\u9662\uff08NIH\uff09\u7684<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/gtr\/conditions\/C3809844\/\" target=\"_blank\" rel=\"noopener\">\u57fa\u56e0\u68c0\u6d4b\u767b\u8bb0\u5904\uff08GTR\uff09<\/a>\u4e2d\uff0c\u5c06\u8be5\u533a\u57df\u91cd\u590d\u6240\u5f15\u53d1\u7684\u75be\u75c5\u6536\u5f55\u5728\u6848\u3002<\/p>\n\n\n\n<p>\u6839\u636e\u53d1\u8868\u4e8e\u4e13\u4e1a\u671f\u520aMolecular Syndromology\u7684\u75c5\u4f8b\u62a5\u544a\uff0c\u4ece22q13.3\u672b\u7aef\u81f3\u67d3\u8272\u4f53\u672b\u7aef\uff08qter\uff09\u7684\u91cd\u590d\uff0c\u8fc4\u4eca\u4e3a\u6b62<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC7445545\/\" target=\"_blank\" rel=\"noopener\">\u5168\u7403\u62a5\u544a\u75c5\u4f8b\u7ea624\u4f8b<\/a>\uff0c\u5c5e\u4e8e\u975e\u5e38\u7f55\u89c1\u7684\u75be\u75c5\u3002\u867d\u7136\u7f55\u89c1\uff0c\u4f46\u7edd\u975e\u6ca1\u6709\u5148\u4f8b\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%85%B3%E4%BA%8E%E7%97%85%E5%90%8D\"><\/span><strong>\u5173\u4e8e\u75c5\u540d<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5728\u4e0d\u540c\u6587\u732e\u4e2d\uff0c\u8be5\u75c5\u8fd8\u6709&#8221;22q13\u5fae\u91cd\u590d\u7efc\u5408\u5f81&#8221;&#8221;SHANK3\u91cd\u590d\u7efc\u5408\u5f81&#8221;&#8221;\u8fdc\u7aef22q\u91cd\u590d\u7efc\u5408\u5f81&#8221;\u7b49\u591a\u79cd\u79f0\u547c\u3002\u5177\u4f53\u540d\u79f0\u4f1a\u56e0\u6240\u6d89\u53ca\u533a\u57df\u5927\u5c0f\u53ca\u57fa\u56e0\u4e0d\u540c\u800c\u6709\u6240\u5dee\u5f02\uff0c\u672c\u6587\u7edf\u4e00\u4f7f\u7528&#8221;22q13\u91cd\u590d\u7efc\u5408\u5f81&#8221;\u8fd9\u4e00\u603b\u79f0\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E4%B8%8E%E2%80%9D22q13%E7%BC%BA%E5%A4%B1%E7%BB%BC%E5%90%88%E5%BE%81%EF%BC%88Phelan-McDermid%E7%BB%BC%E5%90%88%E5%BE%81%EF%BC%89%E2%80%9D%E7%9A%84%E5%8C%BA%E5%88%AB%EF%BC%88%E6%98%93%E6%B7%B7%E6%B7%86%EF%BC%8C%E9%9C%80%E6%B3%A8%E6%84%8F%EF%BC%89\"><\/span><strong>2. \u4e0e&#8221;22q13\u7f3a\u5931\u7efc\u5408\u5f81\uff08Phelan-McDermid\u7efc\u5408\u5f81\uff09&#8221;\u7684\u533a\u522b\uff08\u6613\u6df7\u6dc6\uff0c\u9700\u6ce8\u610f\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u540d\u79f0\u76f8\u4f3c\u7684&#8221;22q13\u7f3a\u5931\u7efc\u5408\u5f81\uff08Phelan-McDermid\u7efc\u5408\u5f81\uff09&#8221;\u662f22q13\u533a\u57df&#8221;\u7f3a\u5931&#8221;\u6240\u81f4\u7684\u75be\u75c5\uff0c\u4e0e\u672c\u6587\u4ecb\u7ecd\u7684&#8221;\u91cd\u590d\uff08\u589e\u591a\uff09&#8221;\u7efc\u5408\u5f81\u5728\u75c5\u56e0\u548c\u75c7\u72b6\u503e\u5411\u4e0a\u5747\u4e0d\u76f8\u540c\u3002<\/strong>\u5728\u6bd4\u5bf9\u68c0\u67e5\u7ed3\u679c\u6216\u6587\u7ae0\u6807\u9898\u65f6\uff0c\u8bf7\u9996\u5148\u786e\u8ba4\u662f&#8221;\u7f3a\u5931&#8221;\u8fd8\u662f&#8221;\u91cd\u590d&#8221;\u3002<\/p>\n\n\n\n<figure class=\"wp-table-block\"><table><thead><tr><th>\u6bd4\u8f83\u9879\u76ee<\/th><th>22q13\u91cd\u590d\u7efc\u5408\u5f81\uff08\u672c\u6587\uff09<\/th><th>22q13\u7f3a\u5931\u7efc\u5408\u5f81\uff08Phelan-McDermid\u7efc\u5408\u5f81\uff09<\/th><\/tr><\/thead><tbody><tr><td>\u67d3\u8272\u4f53\u53d8\u5316<\/td><td>22q13\u533a\u57df\u591a\u51fa\u4e00\u4efd\u62f7\u8d1d\uff08\u91cd\u590d\uff09<\/td><td>22q13\u533a\u57df\u7f3a\u5931<\/td><\/tr><tr><td>\u5bf9SHANK3\u7684\u5f71\u54cd<\/td><td>\u88ab\u8ba4\u4e3a\u4e0e\u8fc7\u5ea6\u8868\u8fbe\u6709\u5173<\/td><td>\u4ee5\u529f\u80fd\u4f4e\u4e0b\uff08\u5355\u500d\u5242\u91cf\u4e0d\u8db3\uff09\u4e3a\u4e3b<\/td><\/tr><tr><td>\u4ee3\u8868\u6027\u75c7\u72b6<\/td><td>\u75c7\u72b6\u8303\u56f4\u5e7f\uff0c\u4ece\u8f7b\u5ea6\u5230\u91cd\u5ea6\u4e2a\u4f53\u5dee\u5f02\u5927<\/td><td>\u808c\u5f20\u529b\u4f4e\u4e0b\u3001\u91cd\u5ea6\u8bed\u8a00\u53d1\u80b2\u8fdf\u7f13\u3001\u81ea\u95ed\u503e\u5411<\/td><\/tr><tr><td>\u5408\u5e76\u5b64\u72ec\u75c7\u8c31\u7cfb\u969c\u788d<\/td><td>\u4ec5\u89c1\u4e8e\u90e8\u5206\u62a5\u544a\u75c5\u4f8b\uff08\u8be6\u89c1\u4e0b\u6587\uff09<\/td><td>\u51e0\u4e4e\u6240\u6709\u75c5\u4f8b\u5747\u6709<\/td><\/tr><tr><td>\u62a5\u544a\u75c5\u4f8b\u6570<\/td><td>\u8f83\u7f3a\u5931\u578b\u62a5\u544a\u75c5\u4f8b\u66f4\u5c11<\/td><td>\u5168\u7403\u8d85\u8fc72200\u4f8b<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<p>\u4e24\u8005\u867d\u7136\u90fd\u6d89\u53ca22\u53f7\u67d3\u8272\u4f53\u7684\u540c\u4e00\u533a\u57df\uff0c\u4f46&#8221;\u589e\u591a&#8221;\u8fd8\u662f&#8221;\u7f3a\u5931&#8221;\u4f1a\u5bfc\u81f4\u75c7\u72b6\u8868\u73b0\u4e0d\u540c\u3002\u5982\u679c\u60a8\u60f3\u8fdb\u4e00\u6b65\u4e86\u89e3Phelan-McDermid\u7efc\u5408\u5f81\uff0822q13\u7f3a\u5931\u7efc\u5408\u5f81\uff09\uff0c\u8bf7\u53c2\u8003\u4e0b\u65b9\u76f8\u5173\u6587\u7ae0\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/22q13-deletion-syndrome\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">22q13\u6b20\u5931\u75c7\u5019\u7fa4\uff08\u30d5\u30a7\u30e9\u30f3\u30fb\u30de\u30af\u30c0\u30fc\u30df\u30c9\u75c7\u5019\u7fa4\uff09 <\/div>\n          <div class=\"blog-card-excerpt\">22q13\u6b20\u5931\u75c7\u5019\u7fa4\uff08\u30d5\u30a7\u30e9\u30f3\u30fb\u30de\u30af\u30c0\u30fc\u30df\u30c9\u75c7\u5019\u7fa4\/PMS\uff09\u306e\u75c7\u72b6\u3001\u539f\u56e0\u3001\u691c\u67fb\u3001\u7642\u80b2\u306b\u3064\u3044\u3066\u5206\u304b\u308a\u3084\u3059\u304f\u89e3\u8aac\u3057\u307e\u3059\u3002\u8a00\u8449\u306e\u9045\u308c\u3084\u75db\u307f\u3078\u306e\u920d\u611f...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E4%B8%BB%E8%A6%81%E7%97%87%E7%8A%B6%EF%BC%88%E4%B8%AA%E4%BD%93%E5%B7%AE%E5%BC%82%E8%BE%83%E5%A4%A7%EF%BC%89\"><\/span><strong>3. \u4e3b\u8981\u75c7\u72b6\uff08\u4e2a\u4f53\u5dee\u5f02\u8f83\u5927\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>22q13\u91cd\u590d\u7efc\u5408\u5f81\u7684\u75c7\u72b6\u4e2a\u4f53\u5dee\u5f02\u6781\u5927\uff0c\u4ec5\u51ed\u91cd\u590d\u533a\u57df\u7684\u5927\u5c0f\u65e0\u6cd5\u51c6\u786e\u9884\u6d4b\u75c7\u72b6\u7684\u4e25\u91cd\u7a0b\u5ea6\u3002<\/strong>\u4ee5\u4e0b\u6839\u636e\u4e13\u4e1a\u671f\u520a\u62a5\u544a\uff0c\u6574\u7406\u4e86\u8f83\u4e3a\u5e38\u89c1\u7684\u4ee3\u8868\u6027\u75c7\u72b6\u3002<\/p>\n\n\n\n<figure class=\"wp-table-block\"><table><thead><tr><th>\u5df2\u62a5\u544a\u7684\u4e3b\u8981\u75c7\u72b6<\/th><th>\u5927\u81f4\u5185\u5bb9<\/th><\/tr><\/thead><tbody><tr><td>\u53d1\u80b2\u8fdf\u7f13\u3001\u667a\u529b\u969c\u788d<\/td><td>\u8bed\u8a00\u3001\u8fd0\u52a8\u53d1\u80b2\u8fdf\u7f13\uff0c\u8f7b\u5ea6\u81f3\u4e2d\u5ea6\u667a\u529b\u969c\u788d<\/td><\/tr><tr><td>\u7279\u5f81\u6027\u9762\u90e8\u7279\u5f81<\/td><td>\u8eab\u6750\u77ee\u5c0f\u3001\u5c0f\u5934\u7578\u5f62\u3001\u773c\u8ddd\u8fc7\u5bbd\u3001\u5507\u816d\u88c2\u7b49<\/td><\/tr><tr><td>\u884c\u4e3a\u65b9\u9762\u7684\u7279\u70b9<\/td><td>\u5b64\u72ec\u75c7\u8c31\u7cfb\u6837\u884c\u4e3a\u3001\u591a\u52a8\u3001\u523b\u677f\u884c\u4e3a<\/td><\/tr><tr><td>\u4ec5\u6709\u8bed\u8a00\u3001\u53d1\u97f3\u65b9\u9762\u7684\u95ee\u9898<\/td><td>\u4e5f\u6709\u62a5\u544a\u75c5\u4f8b\u4ec5\u8868\u73b0\u4e3a\u6784\u97f3\u3001\u8bed\u8a00\u8fdf\u7f13\uff0c\u4e0d\u4f34\u667a\u529b\u969c\u788d<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<p>\u53d1\u8868\u4e8e\u4e13\u4e1a\u671f\u520aPsychiatric Genetics\u7684\u75c5\u4f8b\u62a5\u544a\u4e2d\uff0c\u4e00\u5bf9\u6bcd\u5b50\u5171\u540c\u643a\u5e26\u6d89\u53caSHANK3\u7684\u91cd\u590d\uff0c\u4f46<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/38084626\/\" target=\"_blank\" rel=\"noopener\">\u6bcd\u4eb2\u65e2\u65e0\u667a\u529b\u969c\u788d\u4e5f\u65e0\u5b64\u72ec\u75c7\u8c31\u7cfb\u969c\u788d\uff0c\u552f\u4e00\u7684\u75c7\u72b6\u662f\u6301\u7eed\u5b58\u5728\u7684\u6784\u97f3\u3001\u8bed\u8a00\u95ee\u9898<\/a>\u3002\u5373\u4fbf\u662f\u76f8\u540c\u7684\u91cd\u590d\uff0c\u75c7\u72b6\u7684\u4e25\u91cd\u7a0b\u5ea6\u4e5f\u53ef\u80fd\u5b58\u5728\u5982\u6b64\u5927\u7684\u5dee\u5f02\u3002<\/p>\n\n\n\n<p>\u53e6\u6709\u4e00\u9879\u56de\u987e28\u540d\u643a\u5e26\u6d89\u53caSHANK3\u768422q13.33\u91cd\u590d\u60a3\u8005\u7684\u4e13\u4e1a\u671f\u520a\u62a5\u544a<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC6827803\/\" target=\"_blank\" rel=\"noopener\">\u663e\u793a<\/a>\uff0c\u5176\u4e2d14\u4eba\u6709\u667a\u529b\u969c\u788d\uff0c15\u4eba\u6709\u8f7b\u5ea6\u7279\u5f81\u6027\u9762\u90e8\u8868\u73b0\uff0c7\u4eba\u6709\u884c\u4e3a\u95ee\u9898\uff0c5\u4eba\u6709\u5b64\u72ec\u75c7\u8c31\u7cfb\u969c\u788d\uff0c4\u4eba\u6709\u8bed\u8a00\u8fdf\u7f13\u3002\u4e0e\u7f3a\u5931\u7efc\u5408\u5f81\u51e0\u4e4e\u6240\u6709\u75c5\u4f8b\u90fd\u4f34\u6709\u5b64\u72ec\u75c7\u8c31\u7cfb\u6837\u7279\u5f81\u4e0d\u540c\uff0c\u91cd\u590d\u7efc\u5408\u5f81\u4ec5\u5728\u90e8\u5206\u75c5\u4f8b\u4e2d\u51fa\u73b0\uff0c\u8fd9\u4e00\u70b9\u5f62\u6210\u9c9c\u660e\u5bf9\u6bd4\u3002\u51b3\u5b9a\u75c7\u72b6\u7684\u5173\u952e\u5e76\u975e\u91cd\u590d\u672c\u8eab\u7684\u5927\u5c0f\uff0c\u800c\u662f\u6240\u6d89\u53ca\u57fa\u56e0\u7684\u79cd\u7c7b\u4e0e\u5242\u91cf\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/5p13_duplication_syndrome\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">5p13\u91cd\u8907\u75c7\u5019\u7fa4 <\/div>\n          <div class=\"blog-card-excerpt\">5p13\u91cd\u8907\u75c7\u5019\u7fa4\u306f5\u756a\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u91cd\u8907\u306b\u3088\u308b\u907a\u4f1d\u75be\u60a3\u3067\u3059\u3002\u767a\u9054\u9045\u5ef6\u3084\u77e5\u7684\u969c\u5bb3\u3001\u884c\u52d5\u554f\u984c\u304c\u7279\u5fb4\u3067\u3001\u65e9\u671f\u306e\u7642\u80b2\u3084\u500b\u5225\u652f\u63f4\u304c\u751f\u6d3b\u306e\u8cea\u5411\u4e0a\u306b\u5f79\u7acb\u3061...<\/div>\n      <\/div>\n    <\/a>\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%E3%80%81%E5%AE%B6%E6%97%8F%E9%81%97%E4%BC%A0%E4%B8%8E%E5%81%A5%E5%BA%B7%E6%90%BA%E5%B8%A6%E8%80%85%EF%BC%89\"><\/span><strong>4. \u75c5\u56e0\u4e0e\u9057\u4f20\u65b9\u5f0f\uff08\u65b0\u53d1\u7a81\u53d8\u3001\u5bb6\u65cf\u9057\u4f20\u4e0e\u5065\u5eb7\u643a\u5e26\u8005\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u9664\u4e86\u5076\u53d1\u6027\u53d8\u5316\uff08\u65b0\u53d1\u7a81\u53d8\uff09\u5bfc\u81f4\u7684\u75c5\u4f8b\u5916\uff0c\u4e5f\u6709\u76f8\u5f53\u4e00\u90e8\u5206\u75c5\u4f8b\u662f\u4ece\u7236\u6bcd\u4e00\u65b9\u9057\u4f20\u800c\u6765\uff0c\u5176\u4e2d\u751a\u81f3\u6709\u643a\u5e26\u91cd\u590d\u7684\u672c\u4eba\u6216\u5bb6\u65cf\u6210\u5458\u5e76\u672a\u8868\u73b0\u51fa\u660e\u663e\u75c7\u72b6\u7684\u4f8b\u5b50\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\u53ef\u80fd\u4f1a\u5076\u7136\u53d1\u751f\u91cd\u590d\u8fd9\u4e00\u9519\u8bef\u3002<strong>\u8fd9\u7edd\u4e0d\u662f\u7531\u4e8e\u5b55\u671f\u996e\u98df\u3001\u8fd0\u52a8\u3001\u538b\u529b\u6216\u670d\u836f\u7b49\u6bcd\u4eb2\u7684\u884c\u4e3a\u6240\u5f15\u8d77\u7684\u3002<\/strong>\u8fd9\u662f\u8c01\u90fd\u65e0\u6cd5\u9884\u9632\u3001\u81ea\u7136\u53d1\u751f\u7684\u73b0\u8c61\uff0c\u5e76\u975e\u4efb\u4f55\u4eba\u7684\u8fc7\u9519\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%9D%A5%E8%87%AA%E7%88%B6%E6%AF%8D%E4%B8%80%E6%96%B9%E7%9A%84%E5%B9%B3%E8%A1%A1%E5%9E%8B%E7%BB%93%E6%9E%84%E5%BC%82%E5%B8%B8%EF%BC%88%E6%98%93%E4%BD%8D%E3%80%81%E5%80%92%E4%BD%8D%EF%BC%89\"><\/span><strong>\u6765\u81ea\u7236\u6bcd\u4e00\u65b9\u7684\u5e73\u8861\u578b\u7ed3\u6784\u5f02\u5e38\uff08\u6613\u4f4d\u3001\u5012\u4f4d\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>Molecular Syndromology\u7684\u75c5\u4f8b\u62a5\u544a\u6307\u51fa\uff0c\u7236\u6bcd\u4e00\u65b9\u4e3a\u5e73\u8861\u578b\u6613\u4f4d\u6216\u5012\u4f4d\uff08\u67d3\u8272\u4f53\u90e8\u5206\u4e92\u6362\u6216\u65b9\u5411\u6539\u53d8\uff0c\u4f46\u603b\u91cf\u6ca1\u6709\u589e\u51cf\uff09\u643a\u5e26\u8005\u7684\u60c5\u51b5\uff0c<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC7445545\/\" target=\"_blank\" rel=\"noopener\">\u6bd4\u5076\u53d1\u6027\u53d8\u5316\u7684\u62a5\u544a\u66f4\u591a<\/a>\u3002\u8be5\u62a5\u544a\u4e2d\u63d0\u5230\uff0c\u6bcd\u4eb2\u4e3a\u5e73\u8861\u578b\u5012\u4f4d\u643a\u5e26\u8005\uff08\u672c\u4eba\u65e0\u91cd\u590d\u3001\u65e0\u75c7\u72b6\uff09\uff0c\u5176\u4e24\u4e2a\u5b69\u5b50\u5747\u51fa\u73b0\u4e86\u6d89\u53ca\u76f8\u540c\u91cd\u590d\u7684\u4e0d\u5e73\u8861\u67d3\u8272\u4f53\u7ed3\u6784\uff0c\u4e14\u75c7\u72b6\u90fd\u76f8\u5bf9\u8f83\u8f7b\u3002<\/p>\n\n\n\n<p>\u53e6\u4e00\u65b9\u9762\uff0c\u6b63\u5982\u524d\u6587\u63d0\u5230\u7684\u6bcd\u5b50\u75c5\u4f8b\uff0c<strong>\u4e5f\u5b58\u5728\u643a\u5e26\u91cd\u590d\u672c\u8eab\u3001\u75c7\u72b6\u8f83\u8f7b\u7684\u7236\u6bcd\u5c06\u5176\u9057\u4f20\u7ed9\u5b69\u5b50\u7684\u60c5\u51b5<\/strong>\u3002\u4e5f\u5c31\u662f\u8bf4\uff0c\u76ee\u524d\u5df2\u6709\u4e24\u79cd\u60c5\u51b5\u7684\u62a5\u544a\uff1a\u2460\u672c\u4eba\u65e0\u75c7\u72b6\u3001\u4ec5\u643a\u5e26\u5e73\u8861\u578b\u7ed3\u6784\u5f02\u5e38\u8005\u6240\u751f\u7684\u5b69\u5b50\u51fa\u73b0\u4e0d\u5e73\u8861\u91cd\u590d\uff1b\u2461\u643a\u5e26\u91cd\u590d\u672c\u8eab\u3001\u4f46\u75c7\u72b6\u8f83\u8f7b\u8005\u5c06\u91cd\u590d\u9057\u4f20\u7ed9\u5b69\u5b50\u3002<\/p>\n\n\n\n<p>\u5728\u95e8\u8bca\u4e2d\uff0c\u6211\u4e5f\u9047\u5230\u8fc7\u53d1\u73b0\u67d3\u8272\u4f53\u91cd\u590d\u540e\u8be2\u95ee&#8221;\u662f\u4e0d\u662f\u6211\u4eec\u7684\u539f\u56e0&#8221;\u3001&#8221;\u4e0b\u4e00\u80ce\u4f1a\u600e\u6837&#8221;\u7684\u5bb6\u5ead\u3002\u4ec5\u4ec5\u4e86\u89e3\u7236\u6bcd\u53cc\u65b9\u7684\u67d3\u8272\u4f53\u68c0\u67e5\u7ed3\u679c\uff0c\u5c31\u6709\u52a9\u4e8e\u4e3a\u4e0b\u4e00\u6b21\u598a\u5a20\u505a\u597d\u89c4\u5212\u3002\u5982\u679c\u60a8\u62c5\u5fc3\u5bf9\u4e0b\u4e00\u80ce\u7684\u5f71\u54cd\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\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%80%81NIPT%E7%9A%84%E5%85%B3%E7%B3%BB\"><\/span><strong>5. \u4e0e\u4ea7\u524d\u8bca\u65ad\u3001NIPT\u7684\u5173\u7cfb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u4e00\u822c\u57fa\u7840\u7248NIPT\u4e3b\u8981\u68c0\u6d4b21\u300118\u300113\u4e09\u4f53\u8fd9\u7c7b\u67d3\u8272\u4f53&#8221;\u6570\u76ee&#8221;\u5f02\u5e38\uff0c22q13\u91cd\u590d\u8fd9\u7c7b\u5fae\u91cd\u590d\u5e76\u4e0d\u5728\u68c0\u6d4b\u8303\u56f4\u5185\u3002<\/strong>\u5373\u4fbf\u662f\u5c06\u68c0\u6d4b\u8303\u56f4\u6269\u5927\u5230\u5fae\u7f3a\u5931\u3001\u5fae\u91cd\u590d\u7684\u6269\u5c55\u68c0\u67e5\uff0c\u662f\u5426\u660e\u786e\u5c06\u8be5\u533a\u57df\u7eb3\u5165\u68c0\u6d4b\u5bf9\u8c61\uff0c\u4e5f\u4f1a\u56e0\u68c0\u6d4b\u673a\u6784\u548c\u68c0\u6d4b\u65b9\u6848\u800c\u5f02\u3002<\/p>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/22q11-2-deletion-syndrome-distal-d-e-f\/?lang=zh-hans\">22q11.2\u7f3a\u5931\u7efc\u5408\u5f81<\/a>\u8fd9\u7c7b\u53d1\u751f\u9891\u7387\u76f8\u5bf9\u8f83\u9ad8\u3001\u77e5\u540d\u5ea6\u4e5f\u8f83\u9ad8\u7684\u5fae\u7f3a\u5931\uff0c\u5f80\u5f80\u88ab\u7eb3\u5165\u6269\u5c55\u68c0\u67e5\u65b9\u6848\uff0c\u800c\u5305\u62ec22q13\u91cd\u590d\u7efc\u5408\u5f81\u5728\u5185\u7684\u591a\u6570\u5fae\u91cd\u590d\uff0c\u5219\u9700\u8981\u9010\u4e00\u786e\u8ba4\u5404\u68c0\u6d4b\u673a\u6784\u7684\u68c0\u6d4b\u8303\u56f4\u6e05\u5355\u624d\u80fd\u5f97\u77e5\u3002\u8bf7\u63d0\u524d\u786e\u8ba4\u60a8\u6240\u8003\u8651\u7684\u65b9\u6848\u5177\u4f53\u68c0\u6d4b\u54ea\u4e9b\u533a\u57df\u3002<\/p>\n\n\n\n<p>\u6211\u4eecHiro\u8bca\u6240NIPT\u4e5f\u66fe\u6536\u5230\u8fc7\u8fd9\u6837\u7684\u54a8\u8be2\uff1a&#8221;\u5982\u679c\u6269\u5c55\u68c0\u67e5\u4e2d\u51fa\u73b0\u4e86\u4ece\u672a\u542c\u8bf4\u8fc7\u7684\u533a\u57df\u91cd\u590d\u7684\u53ef\u80fd\u6027\uff0c\u8be5\u600e\u4e48\u529e\uff1f&#8221;\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\u67e5<\/strong>\u3002<\/p>\n\n\n\n<p>\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\u68c0\u6d4b\u7ed3\u679c\u4ecd\u5c5e\u4e8e\u7b5b\u67e5\uff08\u975e\u786e\u5b9a\u6027\uff09\u68c0\u67e5\u7684\u8303\u7574\u3002\u5df2\u77e5\u7684\u662f\uff0c\u5fae\u7f3a\u5931\u3001\u5fae\u91cd\u590d\u7684\u68c0\u6d4b\u8303\u56f4\u8d8a\u5e7f\uff0c\u5373\u4fbf\u7ed3\u679c\u4e3a\u9633\u6027\uff0c\u5b9e\u9645\u60a3\u75c5\u7684\u6bd4\u4f8b\uff08\u9633\u6027\u9884\u6d4b\u503c\uff09\u5f80\u5f80\u8d8a\u4f4e\u3002\u67d3\u8272\u4f53\u53d8\u5316\u7684\u5177\u4f53\u7c7b\u578b\uff0c\u5305\u62ec\u7a76\u7adf\u662f&#8221;\u7f3a\u5931&#8221;\u8fd8\u662f&#8221;\u91cd\u590d&#8221;\uff0c\u4e5f\u5fc5\u987b\u7ecf\u8fc7\u786e\u5b9a\u6027\u68c0\u67e5\u624d\u80fd\u51c6\u786e\u5224\u65ad\u3002<\/p>\n\n\n\n<p>\u5982\u679cNIPT\u6269\u5c55\u68c0\u67e5\u4e2d\u51fa\u73b0\u5fae\u91cd\u590d\u7684\u9633\u6027\u7ed3\u679c\uff0c\u4e00\u822c\u6d41\u7a0b\u5982\u4e0b\uff1a\u9996\u5148\u901a\u8fc7\u9057\u4f20\u54a8\u8be2\u786e\u8ba4\u7ed3\u679c\u7684\u542b\u4e49\uff0c\u968f\u540e\u5224\u65ad\u662f\u5426\u63a5\u53d7\u901a\u8fc7\u7f8a\u6c34\u7a7f\u523a\u8fdb\u884c\u7684\u67d3\u8272\u4f53\u5fae\u9635\u5217\u68c0\u67e5\uff08CMA\uff09\u3002\u8bf7\u4e0d\u8981\u6025\u4e8e\u4e0b\u7ed3\u8bba\uff0c\u4e0e\u4e13\u4e1a\u4eba\u58eb\u4e00\u8d77\u9010\u6b65\u68b3\u7406\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/31279739_s.jpg\" alt=\"\u5750\u8f6e\u6905\u7684\u7956\u6bcd\u4e0e\u5c0f\u5973\u5b69\" class=\"wp-image-87062\"\/><\/figure><\/div>\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"6_%E7%A1%AE%E8%AF%8A%E6%B5%81%E7%A8%8B\"><\/span><strong>6. \u786e\u8bca\u6d41\u7a0b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u786e\u8bca\u4e3b\u8981\u4f9d\u9760\u67d3\u8272\u4f53\u5fae\u9635\u5217\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\u80fd\u591f\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\u7ea7\u522b\u5fae\u5c0f\u91cd\u590d\u7684\u68c0\u67e5\u65b9\u6cd5\u3002\u53ef\u4ee5\u8be6\u7ec6\u4e86\u89e3\u91cd\u590d\u533a\u57df\u7684\u5177\u4f53\u8303\u56f4\uff0c\u4ee5\u53ca\u662f\u5426\u5305\u542bSHANK3\u57fa\u56e0\u3002\u5173\u4e8e\u7f8a\u6c34\u68c0\u67e5\u4e0e\u5fae\u9635\u5217\u68c0\u67e5\u7684\u5173\u7cfb\uff0c\u8be6\u89c1<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/?lang=zh-hans\">\u7f8a\u6c34\u68c0\u67e5\u4e2d\u7684\u5fae\u9635\u5217\u68c0\u67e5\u89e3\u8bf4\u6587\u7ae0<\/a>\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"FISH%E6%B3%95%E3%80%81G%E6%98%BE%E5%B8%A6%E6%B3%95%E5%8F%8A%E7%88%B6%E6%AF%8D%E6%A3%80%E6%B5%8B\"><\/span><strong>FISH\u6cd5\u3001G\u663e\u5e26\u6cd5\u53ca\u7236\u6bcd\u68c0\u6d4b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u901a\u8fc7\u7279\u5b9a\u533a\u57df\u8367\u5149\u6807\u8bb0\u8fdb\u884c\u786e\u8ba4\u7684FISH\u6cd5\uff0c\u5e38\u7528\u4e8e\u7f29\u5c0f\u8303\u56f4\u3001\u786e\u8ba4\u662f\u5426\u5b58\u5728\u91cd\u590d\u3002G\u663e\u5e26\u6cd5\u4ec5\u5728\u91cd\u590d\u8fbe\u52302Mb\u4ee5\u4e0a\u4e14\u663e\u5e26\u5206\u8fa8\u7387\u8f83\u9ad8\u65f6\u624d\u80fd\u68c0\u51fa\u3002\u540c\u65f6\u5bf9\u7236\u6bcd\u8fdb\u884c\u8840\u6db2\u68c0\u6d4b\uff0c\u53ef\u4ee5\u5224\u65ad\u662f\u65b0\u53d1\u7a81\u53d8\uff0c\u8fd8\u662f\u4ece\u643a\u5e26\u5e73\u8861\u578b\u7ed3\u6784\u5f02\u5e38\u7684\u7236\u6bcd\u4e00\u65b9\u9057\u4f20\u800c\u6765\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\u4f1a\u7ed3\u5408\u53d1\u80b2\u8bc4\u4f30\u3001\u8bed\u8a00\u6784\u97f3\u8bc4\u4f30\u3001\u542c\u529b\u68c0\u67e5\uff0c\u4ee5\u53ca\u6839\u636e\u9700\u8981\u8fdb\u884c\u7684\u5fc3\u810f\u3001\u80be\u810f\u8d85\u58f0\u68c0\u67e5\u7b49\uff0c\u7efc\u5408\u628a\u63e1\u5b69\u5b50\u7684\u5177\u4f53\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%EF%BC%88%E6%97%A9%E6%9C%9F%E5%B9%B2%E9%A2%84%E4%B8%8E%E5%AF%B9%E7%97%87%E5%A4%84%E7%90%86%EF%BC%89\"><\/span><strong>7. \u6cbb\u7597\u4e0e\u652f\u6301\uff08\u65e9\u671f\u5e72\u9884\u4e0e\u5bf9\u75c7\u5904\u7406\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u76ee\u524d\u5c1a\u65e0\u80fd\u591f\u9006\u8f6c\u91cd\u590d\u672c\u8eab\u7684\u6839\u6cbb\u6027\u6cbb\u7597\u65b9\u6cd5\uff0c\u4f46\u901a\u8fc7\u65e9\u671f\u5e72\u9884\u53ca\u5bf9\u75c7\u5904\u7406\uff0c\u53ef\u4ee5\u5927\u5e45\u63d0\u5347\u5b69\u5b50\u7684\u751f\u6d3b\u8d28\u91cf\u3002<\/strong><\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%97%A9%E6%9C%9F%E5%B9%B2%E9%A2%84%E4%B8%8E%E5%BA%B7%E5%A4%8D%E8%AE%AD%E7%BB%83\"><\/span><strong>\u65e9\u671f\u5e72\u9884\u4e0e\u5eb7\u590d\u8bad\u7ec3<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u786e\u8bca\u540e\uff0c\u5efa\u8bae\u6839\u636e\u75c7\u72b6\u5c3d\u65e9\u5f00\u59cb\u65e9\u671f\u5e72\u9884\uff08\u53d1\u80b2\u652f\u6301\uff09\u3002\u7269\u7406\u6cbb\u7597\uff08PT\uff09\u9488\u5bf9\u8fd0\u52a8\u53d1\u80b2\u8fdf\u7f13\uff0c\u5e2e\u52a9\u6539\u5584\u59ff\u52bf\u4fdd\u6301\u4e0e\u6b65\u884c\u80fd\u529b\uff1b\u4f5c\u4e1a\u6cbb\u7597\uff08OT\uff09\u6709\u52a9\u4e8e\u624b\u90e8\u7cbe\u7ec6\u52a8\u4f5c\u4e0e\u611f\u89c9\u7edf\u5408\uff1b\u8a00\u8bed\u6cbb\u7597\uff08ST\uff09\u5219\u4f1a\u6839\u636e\u75c7\u72b6\u7a0b\u5ea6\u8fdb\u884c\u8c03\u6574\uff0c\u4ece\u4ec5\u6709\u8bed\u8a00\u8fdf\u7f13\u7684\u8f7b\u5ea6\u60a3\u513f\u5230\u53d1\u97f3\u56f0\u96be\u7684\u60a3\u513f\u5747\u53ef\u9002\u7528\u3002\u5173\u4e8e\u5982\u4f55\u5e94\u5bf9\u884c\u4e3a\u65b9\u9762\u7684\u7279\u70b9\uff0c\u4e5f\u8bf7\u53c2\u9605<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-autism-developmental-disorders-detection\/\">NIPT\u4e0e\u53d1\u80b2\u969c\u788d\u5173\u7cfb\u7684\u76f8\u5173\u6587\u7ae0<\/a>\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%97%87%E7%8A%B6%E8%BE%83%E8%BD%BB%E6%97%B6%E7%9A%84%E5%BA%94%E5%AF%B9%E6%96%B9%E5%BC%8F\"><\/span><strong>\u75c7\u72b6\u8f83\u8f7b\u65f6\u7684\u5e94\u5bf9\u65b9\u5f0f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4ec5\u6709\u8bed\u8a00\u3001\u53d1\u97f3\u65b9\u9762\u7684\u95ee\u9898\uff1a<\/strong>\u4ee5\u8a00\u8bed\u6cbb\u7597\u5e08\u7684\u6784\u97f3\u8bad\u7ec3\u4e3a\u4e3b\uff0c\u5165\u5b66\u540e\u7ee7\u7eed\u89c2\u5bdf\u968f\u8bbf\u3002<\/li>\n\n\n<li><strong>\u884c\u4e3a\u65b9\u9762\u7684\u7279\u70b9\uff1a<\/strong>\u9488\u5bf9\u523b\u677f\u884c\u4e3a\u6216\u591a\u52a8\uff0c\u4e0e\u65e9\u671f\u5e72\u9884\u673a\u6784\u3001\u5b66\u6821\u534f\u4f5c\u8fdb\u884c\u73af\u5883\u8c03\u6574\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u6b63\u56e0\u4e3a\u75c7\u72b6\u8303\u56f4\u5e7f\u6cdb\uff0c\u5b9a\u671f\u8fdb\u884c\u53d1\u80b2\u8bc4\u4f30\u3001\u5224\u65ad&#8221;\u5b69\u5b50\u76ee\u524d\u9700\u8981\u54ea\u4e9b\u652f\u6301&#8221;\u624d\u663e\u5f97\u5c24\u4e3a\u91cd\u8981\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%97%A5%E5%B8%B8%E7%94%9F%E6%B4%BB%E4%B8%AD%E7%9A%84%E6%B3%A8%E6%84%8F%E4%BA%8B%E9%A1%B9\"><\/span><strong>\u65e5\u5e38\u751f\u6d3b\u4e2d\u7684\u6ce8\u610f\u4e8b\u9879<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u7531\u4e8e\u6240\u9700\u652f\u6301\u56e0\u75c7\u72b6\u8f7b\u91cd\u800c\u5dee\u5f02\u8f83\u5927\uff0c\u4e0e\u5176\u5173\u6ce8&#8221;\u548c\u5176\u4ed6\u5b69\u5b50\u76f8\u6bd4\u5982\u4f55&#8221;\uff0c\u4e0d\u5982\u66f4\u5173\u6ce8&#8221;\u548c\u4e0a\u4e2a\u6708\u76f8\u6bd4\u5b69\u5b50\u6709\u54ea\u4e9b\u53d8\u5316&#8221;\u3002\u91cd\u8981\u7684\u4e0d\u662f\u4e0e\u4ed6\u4eba\u6bd4\u8f83\uff0c\u800c\u662f\u5b69\u5b50\u81ea\u8eab\u7684\u8fdb\u6b65\u3002\u4fdd\u7559\u5b9a\u671f\u53d1\u80b2\u68c0\u67e5\u7684\u8bb0\u5f55\uff0c\u4e5f\u6709\u52a9\u4e8e\u4e0e\u4e3b\u6cbb\u533b\u751f\u3001\u5e72\u9884\u4eba\u5458\u7684\u6c9f\u901a\u66f4\u52a0\u987a\u7545\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>\u7531\u4e8e\u75c7\u72b6\u7ec4\u5408\u4e0e\u4e25\u91cd\u7a0b\u5ea6\u4e2a\u4f53\u5dee\u5f02\u5f88\u5927\uff0c\u65e0\u6cd5\u4e00\u6982\u800c\u8bba\u5730\u65ad\u5b9a\u957f\u671f\u9884\u540e\u3002<\/strong>\u4ece\u4ec5\u6709\u8f7b\u5fae\u8bed\u8a00\u8fdf\u7f13\uff0c\u5230\u53d1\u80b2\u8fdf\u7f13\u8f83\u4e3a\u660e\u663e\uff0c\u60c5\u51b5\u56e0\u4eba\u800c\u5f02\u3002<\/p>\n\n\n\n<p>\u7406\u89e3\u8fd9\u79cd\u75be\u75c5\u7684\u8d77\u70b9\uff0c\u6b63\u662f\u8ba4\u8bc6\u5230\u4e2a\u4f53\u5dee\u5f02\u4e4b\u5927\u3002\u91cd\u590d\u672c\u8eab\u5e76\u975e\u8fdb\u884c\u6027\u75be\u75c5\uff0c\u8bb8\u591a\u60a3\u8005\u80fd\u591f\u987a\u5229\u6210\u5e74\uff0c\u5728\u5bb6\u4eba\u4e0e\u652f\u6301\u8005\u7684\u5e2e\u52a9\u4e0b\uff0c\u6301\u7eed\u79ef\u7d2f\u65e9\u671f\u5e72\u9884\u7684\u6210\u679c\uff0c\u6b63\u5e38\u751f\u6d3b\u3002\u5728\u7814\u7a76\u5c42\u9762\uff0c\u5173\u4e8eSHANK3\u91cd\u590d\u91cf\u5bf9\u795e\u7ecf\u53d1\u80b2\u7684\u5f71\u54cd\uff0c\u5168\u7403\u8303\u56f4\u5185\u7684\u7814\u7a76\u4ecd\u5728\u6301\u7eed\u63a8\u8fdb\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"9_%E5%AE%B6%E5%BA%AD%E6%94%AF%E6%8C%81%E4%B8%8E%E8%80%83%E8%99%91%E4%B8%8B%E4%B8%80%E8%83%8E%E6%97%B6\"><\/span><strong>9. \u5bb6\u5ead\u652f\u6301\u4e0e\u8003\u8651\u4e0b\u4e00\u80ce\u65f6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u4f5c\u4e3a\u7f55\u89c1\u75be\u75c5\uff0c\u5b64\u72ec\u611f\u5f80\u5f80\u8f83\u4e3a\u5f3a\u70c8\uff0c\u4f46\u9057\u4f20\u54a8\u8be2\u3001\u60a3\u8005\u5bb6\u5c5e\u4f1a\u7b49\u53ef\u4ee5\u4f9d\u9760\u7684\u8d44\u6e90\u5e76\u4e0d\u6b62\u4e00\u5904\u3002<\/strong><\/p>\n\n\n\n<p>\u5728\u8eab\u8fb9\u627e\u5230\u60a3\u6709\u76f8\u540c\u75be\u75c5\u7684\u5b69\u5b50\u6216\u8bb8\u5e76\u4e0d\u5bb9\u6613\uff0c\u4f46\u4ecd\u53ef\u4ee5\u901a\u8fc7\u56fd\u5185\u5916\u7684\u67d3\u8272\u4f53\u75be\u75c5\u5bb6\u5c5e\u4f1a\u6216\u793e\u4ea4\u7f51\u7edc\u8fdb\u884c\u4fe1\u606f\u4ea4\u6d41\u3002\u533b\u7597\u65b9\u9762\u7684\u7ba1\u7406\u53ef\u4ee5\u4ea4\u7ed9\u533b\u751f\u548c\u5e72\u9884\u4eba\u5458\uff0c\u800c\u5bb6\u4eba\u7684\u89d2\u8272\uff0c\u6211\u8ba4\u4e3a\u662f\u966a\u4f34\u5b69\u5b50\u4e00\u8d77\u4e3a\u773c\u524d\u7684\u6bcf\u4e00\u70b9\u5c0f\u5c0f\u6210\u957f\u800c\u9ad8\u5174\u3002<\/p>\n\n\n\n<p>\u8bca\u65ad\u5e76\u975e\u4e00\u79cd&#8221;\u6807\u7b7e&#8221;\uff0c\u800c\u662f\u5e2e\u52a9\u60a8\u66f4\u6df1\u5165\u7406\u89e3\u5b69\u5b50\u3001\u7ed9\u4e88\u6070\u5f53\u652f\u6301\u7684&#8221;\u5730\u56fe&#8221;\u3002\u6b63\u56e0\u4e3a\u8fd9\u662f\u4e00\u79cd\u75c7\u72b6\u8303\u56f4\u5e7f\u6cdb\u7684\u75be\u75c5\uff0c\u8ba4\u771f\u89c2\u5bdf\u773c\u524d\u5b69\u5b50\u7684\u5177\u4f53\u72b6\u6001\uff0c\u624d\u662f\u627e\u5230\u771f\u6b63\u80fd\u5e2e\u5230\u5b69\u5b50\u7684\u65b9\u6cd5\u7684\u6377\u5f84\u3002\u8bf7\u4e0d\u8981\u7740\u6025\uff0c\u6309\u7167\u5b69\u5b50\u81ea\u5df1\u7684\u8282\u594f\uff0c\u73cd\u60dc\u6bcf\u4e00\u5929\u3002<\/p>\n\n\n\n<p>\u5982\u679c\u60a8\u4e5f\u5173\u5fc3\u5bb9\u6613\u6df7\u6dc6\u7684Phelan-McDermid\u7efc\u5408\u5f81\uff0822q13\u7f3a\u5931\u7efc\u5408\u5f81\uff09\uff0c\u8bf7\u4e00\u5e76\u67e5\u770b\u4e0b\u65b9\u76f8\u5173\u6587\u7ae0\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/22q13-deletion-syndrome\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">22q13\u6b20\u5931\u75c7\u5019\u7fa4\uff08\u30d5\u30a7\u30e9\u30f3\u30fb\u30de\u30af\u30c0\u30fc\u30df\u30c9\u75c7\u5019\u7fa4\uff09 <\/div>\n          <div class=\"blog-card-excerpt\">22q13\u6b20\u5931\u75c7\u5019\u7fa4\uff08\u30d5\u30a7\u30e9\u30f3\u30fb\u30de\u30af\u30c0\u30fc\u30df\u30c9\u75c7\u5019\u7fa4\/PMS\uff09\u306e\u75c7\u72b6\u3001\u539f\u56e0\u3001\u691c\u67fb\u3001\u7642\u80b2\u306b\u3064\u3044\u3066\u5206\u304b\u308a\u3084\u3059\u304f\u89e3\u8aac\u3057\u307e\u3059\u3002\u8a00\u8449\u306e\u9045\u308c\u3084\u75db\u307f\u3078\u306e\u920d\u611f...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<p>\u5982\u679c\u60a8\u5bf9\u5fae\u7f3a\u5931\u3001\u5fae\u91cd\u590d\u6574\u4f53\u5b58\u5728\u62c5\u5fe7\uff0c<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>\u4e5f\u53ef\u4f9b\u53c2\u8003\u3002<\/p>\n\n\n\n<div class=\"wp-block-buttons is-content-justification-center is-layout-flex wp-container-core-buttons-is-layout-16018d1d wp-block-buttons-is-layout-flex\">\n<div class=\"wp-block-button\"><a class=\"wp-block-button__link wp-element-button\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/line-registration\/?lang=zh-hans\" target=\"_blank\" rel=\"noopener\">\u901a\u8fc7LINE\u514d\u8d39\u54a8\u8be2<\/a><\/div>\n<\/div>\n\n\n\n<p>\u5982\u679c\u60a8\u6b63\u5728\u4e3a\u4e0b\u4e00\u80ce\u8003\u8651NIPT\u68c0\u67e5\uff0c\u5fae\u7f3a\u5931\u3001\u5fae\u91cd\u590d\u7684\u68c0\u6d4b\u8303\u56f4\u4e0d\u540c\uff0c\u65b9\u6848\u5185\u5bb9\u4e5f\u4f1a\u6709\u6240\u5dee\u5f02\u3002\u5982\u679c\u4e0d\u6e05\u695a\u54ea\u79cd\u65b9\u6848\u9002\u5408\u81ea\u5df1\uff0c\u6b22\u8fce\u5c1d\u8bd5<strong><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/plan-finder\/?lang=en\">\u65b9\u6848\u8bca\u65ad<\/a><\/strong>\u3002\u4e5f\u53ef\u4ee5\u901a\u8fc7\u7535\u8bdd\u54a8\u8be2\uff0c\u6b22\u8fce\u968f\u65f6\u62e8\u6253<a href=\"tel:0120169629\">0120-169-629<\/a>\u3002<\/p>\n\n\n\n<div class=\"wp-block-buttons is-content-justification-center is-layout-flex wp-container-core-buttons-is-layout-16018d1d wp-block-buttons-is-layout-flex\">\n<div class=\"wp-block-button\"><a class=\"wp-block-button__link wp-element-button\" href=\"https:\/\/mypage-nipt-reservation.hiro-clinic.or.jp\/registration\" target=\"_blank\" rel=\"noopener\">\u5728\u6b64\u9884\u7ea6NIPT\u68c0\u67e5<\/a><\/div>\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\u67e5<\/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=\"22q13%E9%87%8D%E5%A4%8D%E7%BB%BC%E5%90%88%E5%BE%81%E6%98%AF%E4%B8%80%E7%A7%8D%E6%80%8E%E6%A0%B7%E7%9A%84%E7%96%BE%E7%97%85%EF%BC%9F\"><\/span>22q13\u91cd\u590d\u7efc\u5408\u5f81\u662f\u4e00\u79cd\u600e\u6837\u7684\u75be\u75c5\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8fd9\u662f\u4e00\u79cd\u753122\u53f7\u67d3\u8272\u4f53\u957f\u81c2\u4e0a\u768422q13\u533a\u57df\u591a\u51fa\u4e00\u4efd\u62f7\u8d1d\uff08\u91cd\u590d\uff09\u800c\u5f15\u8d77\u7684\u67d3\u8272\u4f53\u75be\u75c5\u3002\u6d89\u53caSHANK3\u57fa\u56e0\u7684\u91cd\u590d\u88ab\u8ba4\u4e3a\u662f\u4e3b\u8981\u539f\u56e0\uff0c\u53ef\u5bf9\u53d1\u80b2\u548c\u884c\u4e3a\u4ea7\u751f\u5404\u79cd\u5f71\u54cd\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%BF%99%E4%B8%8E22q13%E7%BC%BA%E5%A4%B1%E7%BB%BC%E5%90%88%E5%BE%81%EF%BC%88Phelan-McDermid%E7%BB%BC%E5%90%88%E5%BE%81%EF%BC%89%E6%98%AF%E4%B8%8D%E5%90%8C%E7%9A%84%E7%96%BE%E7%97%85%E5%90%97%EF%BC%9F\"><\/span>\u8fd9\u4e0e22q13\u7f3a\u5931\u7efc\u5408\u5f81\uff08Phelan-McDermid\u7efc\u5408\u5f81\uff09\u662f\u4e0d\u540c\u7684\u75be\u75c5\u5417\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u662f\u4e0d\u540c\u7684\u75be\u75c5\u3002\u672c\u6587\u4ecb\u7ecd\u7684\u91cd\u590d\u7efc\u5408\u5f81\u662f\u753122q13\u533a\u57df\u591a\u51fa\u4e00\u4efd\u62f7\u8d1d\u6240\u5f15\u8d77\uff0c\u800c\u7f3a\u5931\u7efc\u5408\u5f81\uff08Phelan-McDermid\u7efc\u5408\u5f81\uff09\u5219\u662f\u7531\u540c\u4e00\u533a\u57df\u7f3a\u5931\u6240\u5f15\u8d77\u3002\u7531\u4e8e\u75c5\u56e0\u548c\u75c7\u72b6\u503e\u5411\u5747\u4e0d\u76f8\u540c\uff0c\u8bf7\u786e\u8ba4\u68c0\u67e5\u7ed3\u679c\u6807\u6ce8\u7684\u662f&#8221;\u91cd\u590d&#8221;\u8fd8\u662f&#8221;\u7f3a\u5931&#8221;\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%BA22q13%E9%87%8D%E5%A4%8D%E7%BB%BC%E5%90%88%E5%BE%81%E5%90%97%EF%BC%9F\"><\/span>NIPT\u80fd\u68c0\u6d4b\u51fa22q13\u91cd\u590d\u7efc\u5408\u5f81\u5417\uff1f<span 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