{"id":85458,"date":"2024-11-14T14:21:05","date_gmt":"2024-11-14T05:21:05","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/williams-beuren-syndrome-wbs\/"},"modified":"2025-08-22T10:29:22","modified_gmt":"2025-08-22T01:29:22","slug":"currarino","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/currarino\/?lang=zh-hans","title":{"rendered":"\u30ab\u30e9\u30ea\u30fc\u30ce\u75c7\u5019\u7fa4\uff08Currarino Syndrome\uff09"},"content":{"rendered":"\n<div style=\"border:solid #ffe6e6 0.8rem;background-color: #fff9f9;padding:3% 5%;margin:1rem 0 3rem;\"><div id=\"ez-toc-container\" class=\"ez-toc-v2_0_84 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">\u76ee\u6b21<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" height=\"10px\" viewBox=\"0 0 24 24\" version=\"1.2\" baseProfile=\"tiny\"><path d=\"M18.2 9.3l-6.2-6.3-6.2 6.3c-.2.2-.3.4-.3.7s.1.5.3.7c.2.2.4.3.7.3h11c.3 0 .5-.1.7-.3.2-.2.3-.5.3-.7s-.1-.5-.3-.7zM5.8 14.7l6.2 6.3 6.2-6.3c.2-.2.3-.5.3-.7s-.1-.5-.3-.7c-.2-.2-.4-.3-.7-.3h-11c-.3 0-.5.1-.7.3-.2.2-.3.5-.3.7s.1.5.3.7z\"\/><\/svg><\/span><\/span><\/span><\/a><\/span><\/div>\n<nav><ul class='ez-toc-list ez-toc-list-level-1 ' ><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-1\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/currarino\/?lang=zh-hans\/#%E6%96%87%E7%AB%A0%E6%91%98%E8%A6%81\" >\u6587\u7ae0\u6458\u8981<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/currarino\/?lang=zh-hans\/#%E7%96%BE%E7%97%85%E5%88%AB%E7%A7%B0\" >\u75be\u75c5\u522b\u79f0<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/currarino\/?lang=zh-hans\/#%E7%96%BE%E7%97%85%E6%A6%82%E5%86%B5\" >\u75be\u75c5\u6982\u51b5<\/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\/currarino\/?lang=zh-hans\/#%E8%AF%8A%E6%96%AD%E4%B8%8E%E5%BD%B1%E5%83%8F%E5%AD%A6\" 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/currarino\/?lang=zh-hans\/#%E5%BC%95%E7%94%A8%E6%96%87%E7%8C%AE\" >\u5f15\u7528\u6587\u732e<\/a><\/li><\/ul><\/nav><\/div>\n<h2 style=\"margin-top:1rem;\"><span class=\"ez-toc-section\" id=\"%E6%96%87%E7%AB%A0%E6%91%98%E8%A6%81\"><\/span>\u6587\u7ae0\u6458\u8981<span class=\"ez-toc-section-end\"><\/span><\/h2><p>\u5361\u62c9\u91cc\u8bfa\u7efc\u5408\u75c7\u662f\u4e00\u79cd\u4ee5\u809b\u95e8\u76f4\u80a0\u7578\u5f62\u3001\u4ed9\u9aa8\u5f02\u5e38\u548c\u4ed9\u9aa8\u524d\u80bf\u7624\u4e3a\u7279\u5f81\u7684\u9057\u4f20\u75be\u75c5\uff0c\u53d1\u75c5\u7387\u7ea6\u4e3a\u6bcf1\u4e07\u81f39\u4e07\u4eba\u4e2d1\u4f8b\u3002\u5176\u75c7\u72b6\u4e25\u91cd\u7a0b\u5ea6\u56e0\u4eba\u800c\u5f02\u3002\u65e9\u671f\u8bca\u65ad\u4e0e\u9002\u5f53\u7ba1\u7406\u6709\u52a9\u4e8e\u63d0\u5347\u751f\u6d3b\u8d28\u91cf\u3002\u672c\u6587\u8be6\u7ec6\u4ecb\u7ecd\u4e86\u5305\u62ec\u975e\u4fb5\u5165\u6027\u4ea7\u524d\u7b5b\u67e5\uff08<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>\uff09\u5728\u5185\u7684\u8bca\u65ad\u65b9\u6cd5\u3001\u6cbb\u7597\u65b9\u6848\u53ca\u9884\u540e\u60c5\u51b5\u3002<\/p><\/div>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%96%BE%E7%97%85%E5%88%AB%E7%A7%B0\"><\/span><strong>\u75be\u75c5\u522b\u79f0<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Currarino\u4e09\u8054\u5f81<br><\/li>\n\n\n\n<li>Currarino\u7279\u53d1\u6027\u9aa8\u5173\u8282\u75c5<br><\/li>\n\n\n\n<li>Currarino\u75c5<br><\/li>\n\n\n\n<li>\u9885\u9aa8\u2011\u9aa8\u5173\u8282\u75c5<br><\/li>\n\n\n\n<li>Reginato\u2011Schiapachasse\u7efc\u5408\u5f81<br><\/li>\n\n\n\n<li><strong>\u75be\u75c5\u522b\u79f0<\/strong><\/li>\n\n\n\n<li>Currarino\u4e09\u8054\u5f81<br><\/li>\n\n\n\n<li>Currarino\u7279\u53d1\u6027\u9aa8\u5173\u8282\u75c5<br><\/li>\n\n\n\n<li>Currarino\u75c5<br><\/li>\n\n\n\n<li>\u9885\u9aa8\u2011\u9aa8\u5173\u8282\u75c5<br><\/li>\n\n\n\n<li>Reginato\u2011Schiapachasse\u7efc\u5408\u5f81<br><\/li>\n\n\n\n<li>Curras<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%96%BE%E7%97%85%E6%A6%82%E5%86%B5\"><\/span><strong>\u75be\u75c5\u6982\u51b5<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large is-resized\"><img decoding=\"async\" width=\"1024\" height=\"23\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/7q36.3-hgtIdeo_genome_37c8a_69040-1024x23.png\" alt=\"7q36.3\" class=\"wp-image-89462\" style=\"width:890px;height:auto\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u5361\u62c9\u91cc\u8bfa\u7efc\u5408\u75c7\u662f\u4e00\u79cd\u7f55\u89c1\u7684\u9057\u4f20\u6027\u75be\u75c5\uff0c\u53d1\u75c5\u7387\u7ea6\u4e3a\u6bcf10\u4e07\u4eba\u4e2d1\u81f39\u4eba\uff0c\u5973\u6027\u7565\u591a\u4e8e\u7537\u6027\uff08\u5973\u6027\u5bf9\u7537\u6027\u6bd4\u4f8b\u7ea6\u4e3a1.39\uff1a1\uff09\u3002\u4e3b\u8981\u7531\u4f4d\u4e8e7\u53f7\u67d3\u8272\u4f537q36.3\u4e0a\u7684MNX1\u57fa\u56e0\u7279\u5b9a\u7a81\u53d8\u5f15\u8d77\uff0c\u8fd9\u79cd\u7a81\u53d8\u4f1a\u5728\u598a\u5a20\u65e9\u671f\u5e72\u6270\u7279\u5b9a\u7ed3\u6784\u7684\u6b63\u5e38\u53d1\u80b2\u3002\uff08\u6ce8\uff1aMNX1\u4e5f\u79f0HB9\u3001HLXB9\u3001HOXHB9\u3001SCRA1\u3002\uff09<\/p>\n\n\n\n<p>\u201c\u5361\u62c9\u91cc\u8bfa\u4e09\u8054\u5f81\u201d\u5305\u542b\u4e09\u5927\u7279\u70b9\uff1a<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>\u9ab6\u9aa8\u5f02\u5e38<\/strong><strong><br><\/strong> \u9ab6\u9aa8\uff08\u810a\u67f1\u5e95\u90e8\u7684\u4e09\u89d2\u5f62\u9aa8\uff09\u53d1\u80b2\u5f02\u5e38\uff0c\u53ef\u80fd\u90e8\u5206\u7f3a\u5931\u6216\u7b2c\u4e00\u9ab6\u690e\u5f62\u6001\u5f02\u5e38\u3002<br><\/li>\n\n\n\n<li><strong>\u9ab6\u524d\u80bf\u5757<\/strong><strong><br><\/strong> \u9ab6\u9aa8\u524d\u51fa\u73b0\u80bf\u7269\uff08\u5e38\u4e3a\u80bf\u7624\u6216\u56ca\u80bf\uff09\uff0c\u5927\u5c0f\u7c7b\u578b\u56e0\u4eba\u800c\u5f02\u3002<br><\/li>\n\n\n\n<li><strong>\u809b\u95e8\u76f4\u80a0\u7578\u5f62<\/strong><br> \u809b\u95e8\u6216\u76f4\u80a0\u53d1\u80b2\u5f02\u5e38\uff0c\u53ef\u80fd\u5f15\u53d1\u6392\u4fbf\u56f0\u96be\u3002<\/li>\n<\/ol>\n\n\n\n<div style=\"height:32px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"426\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/28363717_s.jpg\" alt=\"\u809b\u9580\" class=\"wp-image-89491\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u60a3\u8005\u8fd8\u53ef\u80fd\u51fa\u73b0\u6162\u6027\u4fbf\u79d8\u3001\u65b0\u751f\u513f\u80a0\u6897\u963b\u3001\u809b\u5468\u611f\u67d3\u3001\u6ccc\u5c3f\u6216\u80be\u810f\u95ee\u9898\u3001\u5973\u6027\u751f\u6b96\u7cfb\u7edf\u5f02\u5e38\u3001\u810a\u9ad3\u56fa\u5b9a\u6216\u810a\u819c\u81a8\u51fa\u7b49\u3002<\/p>\n\n\n\n<p>\u7ea6\u4e09\u5206\u4e4b\u4e00\u60a3\u8005\u65e0\u75c7\u72b6\uff1b\u8f7b\u75c7\u53ef\u80fd\u672a\u88ab\u53d1\u73b0\u3002\u91cd\u75c7\u60a3\u8005\u5e38\u9700\u5e72\u9884\u6cbb\u7597\u3002<\/p>\n\n\n\n<p>\u8be5\u75c5\u901a\u5e38\u4e3a\u5e38\u67d3\u8272\u4f53\u663e\u6027\u9057\u4f20\uff0c\u5373\u7236\u6bcd\u4e00\u65b9\u643a\u5e26\u7a81\u53d8\u65f6\uff0c\u5b50\u4ee3\u670950%\u7684\u9057\u4f20\u98ce\u9669\uff0c\u4f46\u8868\u73b0\u548c\u4e25\u91cd\u6027\u5728\u540c\u4e00\u5bb6\u65cf\u4e2d\u4e5f\u53ef\u80fd\u5dee\u5f02\u5f88\u5927\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n    <a href=\"\/nipt\/greig-cephalopolysyndactyly-syndrome-gcps\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u30b0\u30ec\u30a4\u30b0\u982d\u84cb\u591a\u6307\u75c7\u5019\u7fa4\uff08GCPS; Greig cephalopolysyndactyly syndrome\uff09 <\/div>\n          <div class=\"blog-card-excerpt\">\u30b0\u30ea\u30fc\u30b0\u982d\u9854\u591a\u6307\u75c7\u5019\u7fa4\uff08GCPS\uff09\u306f\u3001\u5e83\u304f\u9593\u9694\u3092\u7a7a\u3051\u305f\u76ee\u3084\u7570\u5e38\u306b\u5927\u304d\u306a\u982d\u3001\u4f59\u5206\u306a\u6307\u306a\u3069\u306e\u75c7\u72b6\u3092\u7279\u5fb4\u3068\u3059\u308b\u7a00\u306a\u75be\u60a3\u3067\u3059\u3002\u672c\u8a18\u4e8b\u3067\u306f\u3001GCPS\u306e...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%AF%8A%E6%96%AD%E4%B8%8E%E5%BD%B1%E5%83%8F%E5%AD%A6\"><\/span><strong>\u8bca\u65ad\u4e0e\u5f71\u50cf\u5b66<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u51fa\u751f\u540e\u901a\u8fc7\u4e34\u5e8a\u8868\u73b0\u548c\u5f71\u50cf\u5b66\u68c0\u67e5\uff08X\u5149\u3001MRI\uff09\u8bca\u65ad\u9ab6\u9aa8\u5f02\u5e38\u548c\u9ab6\u524d\u80bf\u5757\u3002\u53ca\u65e9\u53d1\u73b0\u5e76\u6cbb\u7597\u80a0\u9053\u4e0e\u6ccc\u5c3f\u95ee\u9898\uff0c\u6709\u52a9\u4e8e\u63d0\u9ad8\u751f\u6d3b\u8d28\u91cf\u5e76\u9884\u9632\u6f5c\u5728\u5e76\u53d1\u75c7\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large is-resized\"><img decoding=\"async\" width=\"1024\" height=\"23\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/7q36.3-hgtIdeo_genome_37c8a_69040-1024x23.png\" alt=\"7q36.3\" class=\"wp-image-89462\" style=\"width:890px;height:auto\"\/><\/figure><\/div>\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"23\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/MNX1-hgtIdeo_genome_25ebca_84460-1024x23.png\" alt=\"MNX1\" class=\"wp-image-89502\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%97%85%E5%9B%A0%E4%B8%8E%E9%81%97%E4%BC%A0%E5%9F%BA%E7%A1%80\"><\/span><strong>\u75c5\u56e0\u4e0e\u9057\u4f20\u57fa\u7840<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u5361\u62c9\u91cc\u8bfa\u7efc\u5408\u75c7\u7531\u4f4d\u4e8e7\u53f7\u67d3\u8272\u4f537q36.3\u7684MNX1\u57fa\u56e0\u7a81\u53d8\u5f15\u8d77\u3002\u8be5\u57fa\u56e0\u7f16\u7801\u7684\u8f6c\u5f55\u56e0\u5b50\u5728\u80da\u80ce\u65e9\u671f\u795e\u7ecf\u7cfb\u7edf\u7279\u522b\u662f\u810a\u9ad3\u7b49\u7ed3\u6784\u7684\u53d1\u80b2\u4e2d\u53d1\u6325\u5173\u952e\u4f5c\u7528\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"652\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/structure-1024x652.png\" alt=\"MNX1 (Motor Neuron And Pancreas Homeobox 1)\" class=\"wp-image-89505\"\/><\/figure><\/div>\n\n\n<p><\/p>\n\n\n\n<div style=\"height:12px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"517\" height=\"500\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/chr7-MddSfJbXVScYYCJQYcAAAOcK.png\" alt=\"ch7\" class=\"wp-image-88880\"\/><\/figure><\/div>\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%96%BE%E7%97%85%E7%9A%84%E7%97%87%E7%8A%B6%E4%B8%8E%E7%AE%A1%E7%90%86%E6%96%B9%E6%B3%95\"><\/span><strong>\u75be\u75c5\u7684\u75c7\u72b6\u4e0e\u7ba1\u7406\u65b9\u6cd5<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u5361\u62c9\u91cc\u8bfa\u7efc\u5408\u75c7\uff08CS\uff09\u662f\u4e00\u79cd\u9057\u4f20\u6027\u75be\u75c5\uff0c\u901a\u5e38\u7531\u4e09\u5927\u5178\u578b\u7279\u5f81\u6784\u6210\uff0c\u7edf\u79f0\u4e3a\u201c\u5361\u62c9\u91cc\u8bfa\u4e09\u8054\u5f81\u201d\uff0c\u5305\u62ec\u809b\u95e8\u76f4\u80a0\u7578\u5f62\u3001\u9ab6\u9aa8\u5f02\u5e38\u4ee5\u53ca\u9ab6\u524d\u80bf\u7624\u3002\u5927\u7ea620%\u7684\u75c5\u4f8b\u8868\u73b0\u51fa\u5168\u90e8\u4e09\u9879\u7279\u5f81\uff0c\u4f46\u53d1\u75c5\u5f62\u5f0f\u5b58\u5728\u663e\u8457\u4e2a\u4f53\u5dee\u5f02\u3002\u6709\u4e9b\u60a3\u8005\u4ec5\u8868\u73b0\u51fa\u4e00\u9879\u6216\u4e24\u9879\u7279\u5f81\uff0c\u751a\u81f3\u5b8c\u5168\u65e0\u75c7\u72b6\u3002\u636e\u4f30\u8ba1\uff0c\u7ea6\u4e09\u5206\u4e4b\u4e00\u7684\u60a3\u8005\u4e3a\u65e0\u75c7\u72b6\uff0c\u901a\u8fc7\u5bb6\u5ead\u7b5b\u67e5\u6216\u5f71\u50cf\u5b66\u68c0\u67e5\u5076\u7136\u88ab\u53d1\u73b0\u3002<\/p>\n\n\n\n<p>\u5361\u62c9\u91cc\u8bfa\u7efc\u5408\u75c7\u7684\u4e34\u5e8a\u8868\u73b0\u4ece\u8f7b\u5ea6\u5230\u91cd\u5ea6\u4e0d\u7b49\u3002\u5e38\u89c1\u75c7\u72b6\u5305\u62ec\u6162\u6027\u4fbf\u79d8\u548c\u809b\u5468\u611f\u67d3\u3002\u5728\u67d0\u4e9b\u60c5\u51b5\u4e0b\uff0c\u9ab6\u524d\u80bf\u7624\uff08\u4f8b\u5982\u7578\u80ce\u7624\u3001\u810a\u819c\u81a8\u51fa\u3001\u80a0\u9053\u56ca\u80bf\uff09\u53ef\u5f15\u8d77\u5c40\u90e8\u538b\u8feb\uff0c\u5bfc\u81f4\u6392\u5c3f\u3001\u6392\u4fbf\u969c\u788d\uff0c\u751a\u81f3\u795e\u7ecf\u7cfb\u7edf\u635f\u4f24\u3002\u867d\u7136\u9ab6\u524d\u80bf\u7624\u6781\u5c11\u53d1\u751f\u6076\u53d8\uff08\u7ea61\u20132%\uff09\uff0c\u4f46\u7edd\u5927\u591a\u6570\u4e3a\u826f\u6027\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\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\/12\/4329106_s.jpg\" alt=\"\u5927\u4e08\u592b\u305d\u3046\u3067\u3059\" class=\"wp-image-86795\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u9ab6\u9aa8\u5f02\u5e38\u901a\u5e38\u8868\u73b0\u4e3a\u9ab6\u9aa8\u524d\u90e8\u7f3a\u5931\uff0c\u5f62\u6210\u6240\u8c13\u7684\u201c\u9570\u72b6\u9ab6\u9aa8\u201d\u3002\u5728\u8fd9\u79cd\u60c5\u51b5\u4e0b\uff0c\u7b2c\u4e00\u9ab6\u690e\u4ecd\u5b58\u5728\uff0c\u800c\u7b2c\u4e8c\u9ab6\u690e\u53ca\u4ee5\u4e0b\u53ef\u80fd\u7f3a\u5982\u3002\u5076\u5c14\u4e5f\u4f1a\u89c1\u5230\u4e8c\u88c2\u9ab6\u9aa8\u6216\u5448\u80e1\u6912\u7c92\u72b6\u7684\u9ab6\u9aa8\u3002\u6b64\u5916\u8fd8\u53ef\u4f34\u6709\u810a\u9ad3\u76f8\u5173\u5f02\u5e38\uff0c\u5982\u810a\u9ad3\u7c98\u8fde\u3001\u8102\u80aa\u7624\u3001\u56ca\u80bf\u7b49\u3002\u5982\u4e0d\u53ca\u65f6\u6cbb\u7597\uff0c\u810a\u9ad3\u7c98\u8fde\u53ef\u80fd\u4e25\u91cd\u5f71\u54cd\u6392\u5c3f\u6392\u4fbf\u529f\u80fd\u3002\u810a\u9ad3\u5f02\u5e38\u4e5f\u53ef\u80fd\u56e0\u80a0\u9053\u7ec6\u83cc\u611f\u67d3\u5bfc\u81f4\u4e25\u91cd\u75be\u75c5\u5982\u8111\u819c\u708e\u3002<\/p>\n\n\n\n<p>\u6b64\u5916\uff0c\u5361\u62c9\u91cc\u8bfa\u7efc\u5408\u75c7\u60a3\u8005\u8fd8\u53ef\u80fd\u51fa\u73b0\u6ccc\u5c3f\u751f\u6b96\u7cfb\u7edf\u7578\u5f62\u3002\u7ea615%\u7684\u75c5\u4f8b\u5b58\u5728\u53cc\u5b50\u5bab\u3001\u9634\u9053\u4e2d\u9694\u7b49\u5973\u6027\u751f\u6b96\u5668\u5f02\u5e38\u3002\u80be\u810f\u4e0e\u8180\u80f1\u5f02\u5e38\uff08\u5982\u9a6c\u8e44\u80be\u3001\u91cd\u590d\u80be\u3001\u8180\u80f1\u8f93\u5c3f\u7ba1\u53cd\u6d41\uff09\u4e5f\u8f83\u5e38\u89c1\uff0c\u5bb9\u6613\u5f15\u53d1\u5c3f\u5931\u7981\u548c\u53cd\u590d\u5c3f\u8def\u611f\u67d3\u3002<\/p>\n\n\n\n<p>\u5361\u62c9\u91cc\u8bfa\u7efc\u5408\u75c7\u7684\u6cbb\u7597\u65b9\u6848\u4f9d\u8d56\u4e8e\u75c7\u72b6\u7684\u4e25\u91cd\u7a0b\u5ea6\u548c\u5f02\u5e38\u7c7b\u578b\u3002\u591a\u6570\u809b\u95e8\u76f4\u80a0\u7578\u5f62\u9700\u8981\u624b\u672f\u4fee\u590d\u3002\u8f7b\u75c7\u60a3\u8005\u53ef\u91c7\u7528\u8f6f\u5316\u7caa\u4fbf\u836f\u7269\u6216\u4fdd\u5b88\u89c2\u5bdf\u6cbb\u7597\u3002\u9ab6\u524d\u80bf\u7624\u901a\u5e38\u5efa\u8bae\u89c2\u5bdf\u7ba1\u7406\uff0c\u5fc5\u8981\u65f6\u8fdb\u884c\u624b\u672f\u5e72\u9884\uff0c\u5f80\u5f80\u9700\u8981\u591a\u5b66\u79d1\u534f\u8c03\u6cbb\u7597\u3002\u82e5\u4f34\u6709\u9ab6\u9aa8\u6216\u810a\u9ad3\u5f02\u5e38\uff0c\u5219\u53ef\u80fd\u9700\u8981\u795e\u7ecf\u5916\u79d1\u624b\u672f\uff0c\u5c24\u5176\u5728\u810a\u9ad3\u7c98\u8fde\u7684\u60c5\u51b5\u4e0b\uff0c\u82e5\u4e0d\u53ca\u65f6\u624b\u672f\uff0c\u53ef\u80fd\u5bfc\u81f4\u4e25\u91cd\u5e76\u53d1\u75c7\u3002<\/p>\n\n\n\n<p>\u957f\u671f\u7ba1\u7406\u9700\u5b9a\u671f\u968f\u8bbf\u3002\u810a\u9ad3\u53ef\u80fd\u518d\u7c98\u8fde\uff0c\u90e8\u5206\u60a3\u8005\u9700\u591a\u6b21\u624b\u672f\u3002\u5361\u62c9\u91cc\u8bfa\u7efc\u5408\u75c7\u7684\u957f\u671f\u9884\u540e\u4e0d\u4e00\uff0c\u6709\u4e9b\u60a3\u8005\u6301\u7eed\u51fa\u73b0\u4fbf\u79d8\u3001\u5c3f\u5931\u7981\u6216\u795e\u7ecf\u7cfb\u7edf\u75c7\u72b6\u3002\u6076\u6027\u80bf\u7624\u867d\u7f55\u89c1\uff0c\u5c24\u5176\u5728\u513f\u7ae5\u671f\u4ecd\u9700\u5bc6\u5207\u89c2\u5bdf\u3002<\/p>\n\n\n\n<p>\u5361\u62c9\u91cc\u8bfa\u7efc\u5408\u75c7\u53ef\u901a\u8fc7\u4fb5\u5165\u6027\u4e0e\u975e\u4fb5\u5165\u6027\u51fa\u751f\u524d\u68c0\u6d4b\u65b9\u6cd5\u8fdb\u884c\u7b5b\u67e5\u3002FISH\u548c\u7f8a\u6c34\u7a7f\u523a\u7b49\u4fb5\u5165\u6027\u68c0\u67e5\u867d\u80fd\u63d0\u4f9b\u91cd\u8981\u4fe1\u606f\uff0c\u4f46\u5b58\u5728\u5bf9\u6bcd\u5a74\u7684\u98ce\u9669\u3002\u975e\u4fb5\u5165\u6027\u4ea7\u524d\u68c0\u6d4b\uff08<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>\uff09\u901a\u8fc7\u5206\u6790\u6bcd\u4f53\u8840\u6db2\u4e2d\u7684\u80ce\u513fDNA\uff0c\u65e2\u5b89\u5168\u53c8\u53ef\u9760\uff0c\u5df2\u6210\u4e3a\u8d8a\u6765\u8d8a\u591a\u5b55\u5987\u9009\u62e9\u7684\u7b5b\u67e5\u65b9\u5f0f\u3002\u8be5\u65b9\u6cd5\u53ef\u65e9\u671f\u68c0\u6d4b\u76f8\u5173\u57fa\u56e0\u7a81\u53d8\u3002\u5c3d\u7ba1\u5168\u5916\u663e\u5b50\u6216\u5168\u57fa\u56e0\u7ec4\u5206\u6790\u6709\u52a9\u4e8e\u786e\u8bca\uff0c\u4f46\u5728\u4e34\u5e8a\u7ba1\u7406\u4e2d\u5e76\u975e\u5fc5\u9700\u3002\u8003\u8651\u5230\u8868\u73b0\u578b\u5dee\u5f02\uff0c\u5efa\u8bae\u53ca\u65e9\u8bc4\u4f30\u80a0\u9053\u4e0e\u8180\u80f1\u529f\u80fd\uff0c\u4ee5\u9884\u6d4b\u957f\u671f\u9884\u540e\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%9C%AA%E6%9D%A5%E5%B1%95%E6%9C%9B\"><\/span><strong>\u672a\u6765\u5c55\u671b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u5927\u591a\u6570\u5361\u62c9\u91cc\u8bfa\u7efc\u5408\u75c7\u60a3\u8005\u7684\u957f\u671f\u9884\u540e\u603b\u4f53\u826f\u597d\uff0c\u4f46\u90e8\u5206\u60a3\u8005\u53ef\u80fd\u6301\u7eed\u5b58\u5728\u6ccc\u5c3f\u6216\u80a0\u9053\u529f\u80fd\u969c\u788d\uff0c\u5f71\u54cd\u751f\u6d3b\u8d28\u91cf\u3002\u9ab6\u524d\u80bf\u7624\u867d\u6781\u5c11\u53d1\u751f\u6076\u53d8\uff0c\u4f46\u4ecd\u5b58\u5728\u4e2a\u522b\u6848\u4f8b\u3002\u8bb8\u591a\u60a3\u8005\u5728\u6210\u5e74\u540e\u624d\u786e\u8bca\uff0c\u56e0\u6b64\u65e9\u671f\u8bc6\u522b\u5c24\u4e3a\u5173\u952e\uff0c\u53ef\u9884\u9632\u5371\u53ca\u751f\u547d\u7684\u5e76\u53d1\u75c7\uff0c\u5e76\u51cf\u5c11\u957f\u671f\u5065\u5eb7\u95ee\u9898\u3002\u8bc6\u522b\u8be5\u75be\u75c5\u9700\u4fdd\u6301\u9ad8\u5ea6\u8b66\u89c9\uff0c\u5e76\u7ed3\u5408\u591a\u5b66\u79d1\u7efc\u5408\u7ba1\u7406\u3002<\/p>\n\n\n\n<p>\u5c3d\u7ba1\u5361\u62c9\u91cc\u8bfa\u7efc\u5408\u75c7\u7684\u4ea7\u524d\u8bca\u65ad\u8f83\u4e3a\u5c11\u89c1\uff0c\u4f46\u5728\u6709\u5bb6\u65cf\u75c5\u53f2\u7684\u60c5\u51b5\u4e0b\u662f\u53ef\u80fd\u7684\u3002\u8bc6\u522b\u9ad8\u98ce\u9669\u4e2a\u4f53\u53ef\u5e2e\u52a9\u5236\u5b9a\u598a\u5a20\u8ba1\u5212\uff0c\u5e76\u4e3a\u51fa\u751f\u65f6\u53ef\u80fd\u53d7\u5f71\u54cd\u7684\u65b0\u751f\u513f\u63d0\u4f9b\u5145\u5206\u51c6\u5907\u3002NIPT\u662f\u4e00\u79cd\u5b89\u5168\u3001\u53ef\u9760\u7684\u7b5b\u67e5\u65b9\u5f0f\uff0c\u5e7f\u53d7\u5b55\u5987\u6b22\u8fce\u3002\u8ba1\u5212\u80b2\u513f\u7684\u5bb6\u5ead\u4e5f\u5e94\u8003\u8651\u8fdb\u884c\u643a\u5e26\u8005\u7b5b\u67e5\uff0c\u4ee5\u4fbf\u505a\u51fa\u77e5\u60c5\u51b3\u7b56\u5e76\u63d0\u524d\u51c6\u5907\u3002<\/p>\n\n\n\n<div style=\"height:21px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\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\/24156031_s.jpg\" alt=\"\u5b50\u3069\u3082\u3092\u611b\u3055\u306a\u3044\u3068\" class=\"wp-image-87708\"\/><\/figure><\/div>\n\n\n<div style=\"height:21px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p><\/p>\n\n\n\n<div style=\"height:21px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<div style=\"height:21px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p><\/p>\n\n\n\n    <a href=\"\/nipt\/chordoma\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u30b3\u30eb\u30c9\u30fc\u30de\u3063\u3066\u306a\u306b\uff1fNIPT\u3067\u691c\u67fb\u3067\u304d\u308b\uff1f\u3010\u533b\u5e2b\u76e3\u4fee\u3011 <\/div>\n          <div class=\"blog-card-excerpt\">\u30b3\u30eb\u30c9\u30fc\u30de\u306f\u3001\u810a\u7d22\u306e\u6b8b\u308a\u304b\u3089\u767a\u751f\u3059\u308b\u307e\u308c\u306a\u60aa\u6027\u816b\u760d\u3067\u3001\u4e88\u5f8c\u306f\u816b\u760d\u306e\u4f4d\u7f6e\u3084\u5207\u9664\u306e\u53ef\u5426\u306b\u5f71\u97ff\u3055\u308c\u307e\u3059\u3002\u672c\u8a18\u4e8b\u3067\u306f\u3001\u30b3\u30eb\u30c9\u30fc\u30de\u306e\u75c7\u72b6\u3001\u8a3a\u65ad\u65b9\u6cd5\u3001\u6cbb...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%BC%95%E7%94%A8%E6%96%87%E7%8C%AE\"><\/span>\u5f15\u7528\u6587\u732e<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/doi.org\/10.1080\/14767058.2021.1876021\">Ferreira, C., Santos, A. P., &amp; Fonseca, J. (2022). Currarino syndrome \u2013 a pre and post natal diagnosis correlation: Case report and literature review. <em>The Journal of Maternal-Fetal &amp; Neonatal Medicine<\/em>, <em>35<\/em>(25), 5224\u20135226. https:\/\/doi.org\/10.1080\/14767058.2021.1876021<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1007\/s00383-010-2615-4\">Yoshida, A., Maoate, K., Blakelock, R., Robertson, S., &amp; Beasley, S. (2010). Long-term functional outcomes in children with Currarino syndrome. <em>Pediatric Surgery International<\/em>, <em>26<\/em>(7), 677\u2013681. https:\/\/doi.org\/10.1007\/s00383-010-2615-4<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1038\/3828\">Ross, A. J., Ruiz-Perez, V., Wang, Y., Hagan, D.-M., Scherer, S., Lynch, S. A., Lindsay, S., Custard, E., Belloni, E., Wilson, D. I., Wadey, R., Goodman, F., Orstavik, K. H., Monclair, T., Robson, S., Reardon, W., Burn, J., Scambler, P., &amp; Strachan., T. (1998). A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis. <em>Nature Genetics<\/em>, <em>20<\/em>(4), 358\u2013361. https:\/\/doi.org\/10.1038\/3828<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1186\/1741-7007-5-47\">Holland, P. W., Booth, H. A. F., &amp; Bruford, E. A. (2007). Classification and nomenclature of all human homeobox genes. <em>BMC Biology<\/em>, <em>5<\/em>(1), 47. https:\/\/doi.org\/10.1186\/1741-7007-5-47<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1186\/s13023-021-01799-0\">Dworschak, G. C., Reutter, H. M., &amp; Ludwig, M. (2021). Currarino syndrome: A comprehensive genetic review of a rare congenital disorder. <em>Orphanet Journal of Rare Diseases<\/em>, <em>16<\/em>(1), 167. https:\/\/doi.org\/10.1186\/s13023-021-01799-0<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.orpha.net\/en\/disease\/detail\/1552\">Orphanet. (Last updated April 2023). <em>Currarino syndrome.<\/em> Reviewed by Dr John COLEMAN &amp; Prof. Sally Ann LYNCH. Retrieved from https:\/\/www.orpha.net\/en\/disease\/detail\/1552<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/omim.org\/entry\/176450\">Online Mendelian Inheritance in Man. (Last updated September 2007 by Cassandra L. Kniffin). Retreived from https:\/\/omim.org\/entry\/176450<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1093\/nar\/gkae974\">Perez, G., Barber, G. P., Benet-Pages, A., Casper, J., Clawson, H., Diekhans, M., Fischer, C., Gonzalez, J. N., Hinrichs, A. S., Lee, C. M., Nassar, L. R., Raney, B. J., Speir, M. L., van Baren, M. J., Vaske, C. J., Haussler, D., Kent, W. J., &amp; Haeussler, M. (2024). The UCSC Genome Browser database: 2025 update. Nucleic Acids Research, gkae974. https:\/\/doi.org\/10.1093\/nar\/gkae974<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1093\/nar\/gkad1049\">Harrison, P. W., Amode, M. R., Austine-Orimoloye, O., Azov, A. G., Barba, M., Barnes, I., Becker, A., Bennett, R., Berry, A., Bhai, J., Bhurji, S. K., Boddu, S., Branco Lins, P. R., Brooks, L., Budhanuru Ramaraju, S., Campbell, L. I., Carbajo Martinez, M., Charkhchi, M., Chougule, K., \u2026 Yates, A. D. (2024). Ensembl 2024. Nucleic Acids Research, 52(D1), D891\u2013D899. https:\/\/doi.org\/10.1093\/nar\/gkad1049<\/a><\/li>\n<\/ul>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n","protected":false},"excerpt":{"rendered":"\u6587\u7ae0\u6458\u8981\u5361\u62c9\u91cc\u8bfa\u7efc\u5408\u75c7\u662f\u4e00\u79cd\u4ee5\u809b\u95e8\u76f4\u80a0\u7578&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/currarino\/?lang=zh-hans\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":101,"featured_media":87921,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[14],"tags":[],"class_list":["post-85458","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-other-zh-hans"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/85458","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/users\/101"}],"replies":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/comments?post=85458"}],"version-history":[{"count":42,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/85458\/revisions"}],"predecessor-version":[{"id":111601,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/85458\/revisions\/111601"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/87921"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=85458"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=85458"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=85458"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}