{"id":121624,"date":"2026-01-07T14:24:44","date_gmt":"2026-01-07T05:24:44","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=121624"},"modified":"2026-01-07T14:24:45","modified_gmt":"2026-01-07T05:24:45","slug":"chromosome-6q24-q25-deletion-syndrome-guide","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-6q24-q25-deletion-syndrome-guide\/","title":{"rendered":"6q24-q25\u6b20\u5931\u75c7\u5019\u7fa4"},"content":{"rendered":"\n<p>\u304a\u5b50\u69d8\u304c\u300c6q24-q25\u6b20\u5931\u75c7\u5019\u7fa4\u300d\u3068\u3044\u3046\u8a3a\u65ad\u3092\u53d7\u3051\u305f\u3068\u304d\u3001\u982d\u306e\u4e2d\u304c\u771f\u3063\u767d\u306b\u306a\u308a\u3001\u30a4\u30f3\u30bf\u30fc\u30cd\u30c3\u30c8\u3067\u691c\u7d22\u3057\u3066\u3082\u96e3\u3057\u3044\u533b\u5b66\u8ad6\u6587\u3070\u304b\u308a\u3067\u3001\u4e0d\u5b89\u304c\u52df\u3063\u3066\u3057\u307e\u3063\u305f\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u300c\u306a\u305c\u3053\u306e\u75c5\u6c17\u306b\u306a\u3063\u305f\u306e\uff1f\u300d\u300c\u3053\u308c\u304b\u3089\u3069\u3046\u6210\u9577\u3057\u3066\u3044\u304f\u306e\uff1f\u300d<\/p>\n\n\n\n<p>\u305d\u3093\u306a\u5207\u5b9f\u306a\u7591\u554f\u306b\u5bfe\u3057\u3001\u3053\u306e\u8a18\u4e8b\u3067\u306f\u533b\u5b66\u7684\u306a\u6b63\u78ba\u3055\u3092\u4fdd\u3061\u3064\u3064\u3001\u3054\u5bb6\u65cf\u304c\u4e00\u756a\u77e5\u308a\u305f\u3044\u300c\u751f\u6d3b\u306e\u8996\u70b9\u300d\u3092\u4ea4\u3048\u3066\u89e3\u8aac\u3057\u307e\u3059\u3002\u307e\u305a\u306f\u3001\u3053\u306e\u75c5\u6c17\u306e\u6b63\u4f53\u3092\u77e5\u308b\u3053\u3068\u304b\u3089\u59cb\u3081\u307e\u3057\u3087\u3046\u3002<\/p>\n\n\n\n\n\n\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_82_2 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\/chromosome-6q24-q25-deletion-syndrome-guide\/#%E6%A6%82%E8%A6%81%EF%BC%9A%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E7%97%85%E6%B0%97%E3%81%8B\" >\u6982\u8981\uff1a\u3069\u306e\u3088\u3046\u306a\u75c5\u6c17\u304b<\/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\/chromosome-6q24-q25-deletion-syndrome-guide\/#%E6%9F%93%E8%89%B2%E4%BD%93%E3%81%AE%E3%80%8C%E4%BD%8F%E6%89%80%E3%80%8D%E3%82%92%E8%AA%AD%E3%81%BF%E8%A7%A3%E3%81%8F\" >\u67d3\u8272\u4f53\u306e\u300c\u4f4f\u6240\u300d\u3092\u8aad\u307f\u89e3\u304f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-6q24-q25-deletion-syndrome-guide\/#%E3%80%8C%E8%A8%AD%E8%A8%88%E5%9B%B3%E3%80%8D%E3%81%AE%E3%83%9A%E3%83%BC%E3%82%B8%E3%81%8C%E6%8A%9C%E3%81%91%E3%81%A6%E3%81%84%E3%82%8B%E7%8A%B6%E6%85%8B\" >\u300c\u8a2d\u8a08\u56f3\u300d\u306e\u30da\u30fc\u30b8\u304c\u629c\u3051\u3066\u3044\u308b\u72b6\u614b<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-6q24-q25-deletion-syndrome-guide\/#%E9%96%A2%E9%80%A3%E3%81%99%E3%82%8B%E9%87%8D%E8%A6%81%E3%81%AA%E7%96%BE%E6%82%A3%E6%A6%82%E5%BF%B5%EF%BC%9A%E3%82%B3%E3%83%95%E3%82%A3%E3%83%B3%E3%83%BB%E3%82%B7%E3%83%AA%E3%82%B9%E7%97%87%E5%80%99%E7%BE%A4\" >\u95a2\u9023\u3059\u308b\u91cd\u8981\u306a\u75be\u60a3\u6982\u5ff5\uff1a\u30b3\u30d5\u30a3\u30f3\u30fb\u30b7\u30ea\u30b9\u75c7\u5019\u7fa4<\/a><\/li><\/ul><\/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\/chromosome-6q24-q25-deletion-syndrome-guide\/#%E4%B8%BB%E3%81%AA%E7%97%87%E7%8A%B6\" >\u4e3b\u306a\u75c7\u72b6<\/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\/chromosome-6q24-q25-deletion-syndrome-guide\/#1_%E6%88%90%E9%95%B7%E3%81%A8%E7%99%BA%E9%81%94%E3%81%AE%E9%81%85%E3%82%8C\" >1. \u6210\u9577\u3068\u767a\u9054\u306e\u9045\u308c<\/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\/chromosome-6q24-q25-deletion-syndrome-guide\/#2_%E7%89%B9%E5%BE%B4%E7%9A%84%E3%81%AA%E3%81%8A%E9%A1%94%E7%AB%8B%E3%81%A1%E3%81%A8%E8%BA%AB%E4%BD%93%E7%9A%84%E7%89%B9%E5%BE%B4\" >2. \u7279\u5fb4\u7684\u306a\u304a\u9854\u7acb\u3061\u3068\u8eab\u4f53\u7684\u7279\u5fb4<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-6q24-q25-deletion-syndrome-guide\/#3_%E7%A5%9E%E7%B5%8C%E5%AD%A6%E7%9A%84%E7%97%87%E7%8A%B6\" >3. \u795e\u7d4c\u5b66\u7684\u75c7\u72b6<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-6q24-q25-deletion-syndrome-guide\/#4_%E3%81%9D%E3%81%AE%E4%BB%96%E3%81%AE%E5%90%88%E4%BD%B5%E7%97%87\" >4. \u305d\u306e\u4ed6\u306e\u5408\u4f75\u75c7<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-6q24-q25-deletion-syndrome-guide\/#%E5%8E%9F%E5%9B%A0\" >\u539f\u56e0<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-6q24-q25-deletion-syndrome-guide\/#1_%E7%AA%81%E7%84%B6%E5%A4%89%E7%95%B0%EF%BC%88de_novo%E5%A4%89%E7%95%B0%EF%BC%89\" >1. \u7a81\u7136\u5909\u7570\uff08de novo\u5909\u7570\uff09<\/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\/chromosome-6q24-q25-deletion-syndrome-guide\/#2_%E8%A6%AA%E3%81%AE%E6%9F%93%E8%89%B2%E4%BD%93%E8%BB%A2%E5%BA%A7%EF%BC%88%E3%81%BE%E3%82%8C%E3%81%AA%E3%82%B1%E3%83%BC%E3%82%B9%EF%BC%89\" >2. \u89aa\u306e\u67d3\u8272\u4f53\u8ee2\u5ea7\uff08\u307e\u308c\u306a\u30b1\u30fc\u30b9\uff09<\/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\/chromosome-6q24-q25-deletion-syndrome-guide\/#%E8%A8%BA%E6%96%AD%E3%81%A8%E6%A4%9C%E6%9F%BB\" >\u8a3a\u65ad\u3068\u691c\u67fb<\/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\/chromosome-6q24-q25-deletion-syndrome-guide\/#1_%E3%83%9E%E3%82%A4%E3%82%AF%E3%83%AD%E3%82%A2%E3%83%AC%E3%82%A4%E6%9F%93%E8%89%B2%E4%BD%93%E6%A4%9C%E6%9F%BB_CMA\" >1. \u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb (CMA)<\/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\/chromosome-6q24-q25-deletion-syndrome-guide\/#2_%E7%94%BB%E5%83%8F%E6%A4%9C%E6%9F%BB\" >2. \u753b\u50cf\u691c\u67fb<\/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\/chromosome-6q24-q25-deletion-syndrome-guide\/#3_%E7%9C%BC%E7%A7%91%E3%83%BB%E8%81%B4%E8%A6%9A%E6%A4%9C%E6%9F%BB\" >3. \u773c\u79d1\u30fb\u8074\u899a\u691c\u67fb<\/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\/chromosome-6q24-q25-deletion-syndrome-guide\/#%E6%B2%BB%E7%99%82%E3%81%A8%E7%AE%A1%E7%90%86%EF%BC%9A%E3%81%93%E3%82%8C%E3%81%8B%E3%82%89%E3%81%AE%E3%83%AD%E3%83%BC%E3%83%89%E3%83%9E%E3%83%83%E3%83%97\" >\u6cbb\u7642\u3068\u7ba1\u7406\uff1a\u3053\u308c\u304b\u3089\u306e\u30ed\u30fc\u30c9\u30de\u30c3\u30d7<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-18\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-6q24-q25-deletion-syndrome-guide\/#1_%E6%97%A9%E6%9C%9F%E7%99%82%E8%82%B2%EF%BC%88%E3%83%8F%E3%83%93%E3%83%AA%E3%83%86%E3%83%BC%E3%82%B7%E3%83%A7%E3%83%B3%EF%BC%89\" >1. \u65e9\u671f\u7642\u80b2\uff08\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\uff09<\/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\/chromosome-6q24-q25-deletion-syndrome-guide\/#2_%E5%8C%BB%E7%99%82%E7%9A%84%E3%82%B1%E3%82%A2%E3%81%A8%E5%AE%9A%E6%9C%9F%E6%A4%9C%E8%A8%BA\" >2. \u533b\u7642\u7684\u30b1\u30a2\u3068\u5b9a\u671f\u691c\u8a3a<\/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\/chromosome-6q24-q25-deletion-syndrome-guide\/#3_%E6%95%99%E8%82%B2%E3%83%BB%E7%94%9F%E6%B4%BB%E7%92%B0%E5%A2%83%E3%81%AE%E8%AA%BF%E6%95%B4\" >3. \u6559\u80b2\u30fb\u751f\u6d3b\u74b0\u5883\u306e\u8abf\u6574<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-21\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-6q24-q25-deletion-syndrome-guide\/#%E6%97%A5%E3%80%85%E3%81%AE%E7%94%9F%E6%B4%BB%E3%81%A7%E3%81%AE%E5%B7%A5%E5%A4%AB\" >\u65e5\u3005\u306e\u751f\u6d3b\u3067\u306e\u5de5\u592b<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-22\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-6q24-q25-deletion-syndrome-guide\/#%E3%81%BE%E3%81%A8%E3%82%81\" >\u307e\u3068\u3081<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-23\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-6q24-q25-deletion-syndrome-guide\/#%E5%AE%B6%E6%97%8F%E3%81%B8%E3%81%AE%E3%83%A1%E3%83%83%E3%82%BB%E3%83%BC%E3%82%B8%EF%BC%9A%E3%82%86%E3%81%A3%E3%81%8F%E3%82%8A%E3%81%A7%E3%82%82%E3%80%81%E7%A2%BA%E5%AE%9F%E3%81%AB%E6%9C%AA%E6%9D%A5%E3%81%B8\" >\u5bb6\u65cf\u3078\u306e\u30e1\u30c3\u30bb\u30fc\u30b8\uff1a\u3086\u3063\u304f\u308a\u3067\u3082\u3001\u78ba\u5b9f\u306b\u672a\u6765\u3078<\/a><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%A6%82%E8%A6%81%EF%BC%9A%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E7%97%85%E6%B0%97%E3%81%8B\"><\/span><strong>\u6982\u8981\uff1a\u3069\u306e\u3088\u3046\u306a\u75c5\u6c17\u304b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>6q24-q25\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u3001\u30d2\u30c8\u306e\u7d30\u80de\u306e\u6838\u306b\u3042\u308b46\u672c\u306e\u67d3\u8272\u4f53\u306e\u3046\u3061\u3001\u300c6\u756a\u67d3\u8272\u4f53\u300d\u306e\u4e00\u90e8\u304c\u5931\u308f\u308c\u3066\u3044\u308b\uff08\u6b20\u5931\u3057\u3066\u3044\u308b\uff09\u3053\u3068\u306b\u3088\u3063\u3066\u8d77\u3053\u308b\u751f\u307e\u308c\u3064\u304d\u306e\u75be\u60a3\u3067\u3059\u3002<\/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%E3%81%AE%E3%80%8C%E4%BD%8F%E6%89%80%E3%80%8D%E3%82%92%E8%AA%AD%E3%81%BF%E8%A7%A3%E3%81%8F\"><\/span><strong>\u67d3\u8272\u4f53\u306e\u300c\u4f4f\u6240\u300d\u3092\u8aad\u307f\u89e3\u304f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3053\u306e\u75c5\u540d\u306f\u3001\u67d3\u8272\u4f53\u306e\u3069\u306e\u5834\u6240\u304c\u5909\u5316\u3057\u3066\u3044\u308b\u304b\u3068\u3044\u3046\u300c\u4f4f\u6240\u300d\u3092\u8868\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Chromosome 6\uff086\u756a\u67d3\u8272\u4f53\uff09:<\/strong> \u30d2\u30c8\u306b\u306f\u5927\u304d\u3044\u9806\u306b\u756a\u53f7\u304c\u3064\u3044\u305f22\u5bfe\u306e\u5e38\u67d3\u8272\u4f53\u3068\u6027\u67d3\u8272\u4f53\u304c\u3042\u308a\u307e\u3059\u3002\u305d\u306e6\u756a\u76ee\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>q\uff08\u9577\u8155\uff09:<\/strong> \u67d3\u8272\u4f53\u306b\u306f\u304f\u3073\u308c\uff08\u52d5\u539f\u4f53\uff09\u304c\u3042\u308a\u3001\u77ed\u3044\u65b9\u3092\u77ed\u8155\uff08p\uff09\u3001\u9577\u3044\u65b9\u3092\u9577\u8155\uff08q\uff09\u3068\u547c\u3073\u307e\u3059\u3002\u4eca\u56de\u306f\u9577\u3044\u65b9\u306e\u8155\u306b\u5909\u5316\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>24-25\uff08\u9818\u57df\uff09:<\/strong> \u9577\u8155\u306e\u4e2d\u306e\u300c\u30d0\u30f3\u30c9\u300d\u3068\u547c\u3070\u308c\u308b\u533a\u753b\u306e\u756a\u53f7\u3067\u3059\u300224\u756a\u304b\u308925\u756a\u306e\u3042\u305f\u308a\u304c\u6b20\u3051\u3066\u3044\u308b\u3053\u3068\u3092\u610f\u5473\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>Deletion\uff08\u6b20\u5931\uff09:<\/strong> \u305d\u306e\u90e8\u5206\u306e\u907a\u4f1d\u60c5\u5831\u304c\u629c\u3051\u843d\u3061\u3066\u3044\u308b\u72b6\u614b\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%80%8C%E8%A8%AD%E8%A8%88%E5%9B%B3%E3%80%8D%E3%81%AE%E3%83%9A%E3%83%BC%E3%82%B8%E3%81%8C%E6%8A%9C%E3%81%91%E3%81%A6%E3%81%84%E3%82%8B%E7%8A%B6%E6%85%8B\"><\/span><strong>\u300c\u8a2d\u8a08\u56f3\u300d\u306e\u30da\u30fc\u30b8\u304c\u629c\u3051\u3066\u3044\u308b\u72b6\u614b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u67d3\u8272\u4f53\u3092\u4f53\u306e\u300c\u8a2d\u8a08\u56f3\u300d\u306b\u4f8b\u3048\u308b\u306a\u3089\u3001\u3053\u306e\u75c7\u5019\u7fa4\u306f\u3001\u5206\u539a\u3044\u8a2d\u8a08\u56f3\u306e6\u5dfb\u76ee\u306e\u3001\u7279\u5b9a\u306e\u6570\u30da\u30fc\u30b8\u304c\u629c\u3051\u843d\u3061\u3066\u3057\u307e\u3063\u3066\u3044\u308b\u72b6\u614b\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u5931\u308f\u308c\u305f\u30da\u30fc\u30b8\uff08\u9818\u57df\uff09\u306b\u306f\u3001\u8133\u306e\u767a\u9054\u3001\u4f53\u306e\u5f62\u6210\u3001\u9aa8\u306e\u6210\u9577\u306a\u3069\u306b\u95a2\u308f\u308b\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u307e\u3059\u3002\u305d\u306e\u305f\u3081\u3001\u8a2d\u8a08\u56f3\u306e\u6307\u793a\u304c\u4e00\u90e8\u8aad\u307f\u53d6\u308c\u305a\u3001\u767a\u9054\u306e\u9045\u308c\u3084\u8eab\u4f53\u7684\u306a\u7279\u5fb4\u306a\u3069\u3001\u3055\u307e\u3056\u307e\u306a\u75c7\u72b6\u304c\u73fe\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%96%A2%E9%80%A3%E3%81%99%E3%82%8B%E9%87%8D%E8%A6%81%E3%81%AA%E7%96%BE%E6%82%A3%E6%A6%82%E5%BF%B5%EF%BC%9A%E3%82%B3%E3%83%95%E3%82%A3%E3%83%B3%E3%83%BB%E3%82%B7%E3%83%AA%E3%82%B9%E7%97%87%E5%80%99%E7%BE%A4\"><\/span><strong>\u95a2\u9023\u3059\u308b\u91cd\u8981\u306a\u75be\u60a3\u6982\u5ff5\uff1a\u30b3\u30d5\u30a3\u30f3\u30fb\u30b7\u30ea\u30b9\u75c7\u5019\u7fa4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u7279\u306b\u300c6q25\u300d\u3068\u3044\u3046\u9818\u57df\u306b\u306f\u3001<strong>ARID1B<\/strong>\u3068\u3044\u3046\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u304c\u6b20\u5931\u306b\u542b\u307e\u308c\u308b\u5834\u5408\u3001\u300c\u30b3\u30d5\u30a3\u30f3\u30fb\u30b7\u30ea\u30b9\u75c7\u5019\u7fa4\uff08Coffin-Siris syndrome\uff09\u300d\u3068\u547c\u3070\u308c\u308b\u75be\u60a3\u3068\u975e\u5e38\u306b\u4f3c\u305f\u7279\u5fb4\uff08\u5c0f\u6307\u306e\u722a\u306e\u4f4e\u5f62\u6210\u3084\u591a\u6bdb\u306a\u3069\uff09\u3092\u793a\u3059\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u533b\u5e2b\u304b\u3089\u3053\u306e\u540d\u524d\u3092\u805e\u304f\u3053\u3068\u304c\u3042\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u304c\u3001\u3053\u308c\u306f6q24-q25\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u75c7\u72b6\u306e\u4e00\u90e8\u3068\u3057\u3066\u8aac\u660e\u3055\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%B8%BB%E3%81%AA%E7%97%87%E7%8A%B6\"><\/span><strong>\u4e3b\u306a\u75c7\u72b6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u75c7\u72b6\u306f\u3001\u6b20\u5931\u3057\u3066\u3044\u308b\u7bc4\u56f2\u306e\u5927\u304d\u3055\u3084\u3001\u3069\u306e\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u308b\u304b\u306b\u3088\u3063\u3066\u3001<strong>\u500b\u4eba\u5dee\u304c\u975e\u5e38\u306b\u5927\u304d\u3044<\/strong>\u306e\u304c\u7279\u5fb4\u3067\u3059\u3002\u300c\u3059\u3079\u3066\u306e\u5b50\u306b\u3059\u3079\u3066\u306e\u75c7\u72b6\u304c\u51fa\u308b\u300d\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u3053\u3053\u3067\u306f\u6bd4\u8f03\u7684\u591a\u304f\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u7279\u5fb4\u306b\u3064\u3044\u3066\u89e3\u8aac\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E6%88%90%E9%95%B7%E3%81%A8%E7%99%BA%E9%81%94%E3%81%AE%E9%81%85%E3%82%8C\"><\/span><strong>1. \u6210\u9577\u3068\u767a\u9054\u306e\u9045\u308c<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u307b\u3068\u3093\u3069\u306e\u60a3\u8005\u3055\u3093\u306b\u898b\u3089\u308c\u308b\u4e2d\u5fc3\u7684\u306a\u75c7\u72b6\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u80ce\u5185\u767a\u80b2\u4e0d\u5168:<\/strong> \u304a\u6bcd\u3055\u3093\u306e\u304a\u8179\u306e\u4e2d\u306b\u3044\u308b\u6642\u304b\u3089\u3001\u4f53\u304c\u5c0f\u3055\u3081\u3067\u3042\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4f4e\u8eab\u9577:<\/strong> \u751f\u307e\u308c\u305f\u5f8c\u3082\u8eab\u9577\u3084\u4f53\u91cd\u306e\u4f38\u3073\u304c\u7de9\u3084\u304b\u3067\u3001\u5c0f\u67c4\u306a\u4f53\u683c\u306b\u306a\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7cbe\u795e\u904b\u52d5\u767a\u9054\u9045\u6ede:<\/strong> \u9996\u306e\u3059\u308f\u308a\u3001\u304a\u5ea7\u308a\u3001\u6b69\u304d\u59cb\u3081\u306a\u3069\u306e\u904b\u52d5\u767a\u9054\u304c\u3086\u3063\u304f\u308a\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>:<\/strong> \u8efd\u5ea6\u304b\u3089\u91cd\u5ea6\u307e\u3067\u5e45\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u8a00\u8449\u306e\u7406\u89e3\u3084\u8868\u73fe\u3001\u5b66\u7fd2\u306b\u304a\u3044\u3066\u30b5\u30dd\u30fc\u30c8\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\u3059\u3002\u7279\u306b\u3001\u8a00\u8449\u304c\u51fa\u308b\u306e\u304c\u9045\u3044\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E7%89%B9%E5%BE%B4%E7%9A%84%E3%81%AA%E3%81%8A%E9%A1%94%E7%AB%8B%E3%81%A1%E3%81%A8%E8%BA%AB%E4%BD%93%E7%9A%84%E7%89%B9%E5%BE%B4\"><\/span><strong>2. \u7279\u5fb4\u7684\u306a\u304a\u9854\u7acb\u3061\u3068\u8eab\u4f53\u7684\u7279\u5fb4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8a3a\u65ad\u306e\u624b\u304c\u304b\u308a\u306b\u306a\u308b\u8eab\u4f53\u7684\u7279\u5fb4\u3067\u3059\u3002\u3053\u308c\u3089\u306f\u6210\u9577\u3068\u3068\u3082\u306b\u5909\u5316\u3057\u3001\u76ee\u7acb\u305f\u306a\u304f\u306a\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u304a\u9854:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u982d\u304c\u5c0f\u3055\u3044\uff08\u5c0f\u982d\u75c7\uff09<\/li>\n\n\n\n<li>\u9f3b\u306e\u4ed8\u3051\u6839\u304c\u5e73\u5766\u3001\u307e\u305f\u306f\u9f3b\u5148\u304c\u3075\u3063\u304f\u3089\u3057\u3066\u3044\u308b<\/li>\n\n\n\n<li>\u53e3\u304c\u5927\u304d\u3044\u3001\u307e\u305f\u306f\u5507\u304c\u8584\u3044\uff08\u7279\u306b\u4e0a\u5507\uff09<\/li>\n\n\n\n<li>\u8033\u306e\u4f4d\u7f6e\u304c\u4f4e\u3044\u3001\u8033\u306e\u5f62\u304c\u7279\u5fb4\u7684<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u624b\u8db3\u306e\u7279\u5fb4\uff08\u91cd\u8981\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u5c0f\u6307\u306e\u722a\u3084\u672b\u7bc0\u9aa8\uff08\u6307\u5148\u306e\u9aa8\uff09\u304c\u5c0f\u3055\u3044\u3001\u307e\u305f\u306f\u6b20\u640d\u3057\u3066\u3044\u308b:<\/strong> \u3053\u308c\u306f6q25\u9818\u57df\uff08ARID1B\u907a\u4f1d\u5b50\uff09\u304c\u95a2\u4e0e\u3057\u3066\u3044\u308b\u5834\u5408\u306e\u5927\u304d\u306a\u7279\u5fb4\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u624b\u306e\u6307\u304c\u77ed\u3044\uff08\u77ed\u6307\u75c7\uff09\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u591a\u6bdb:<\/strong> \u80cc\u4e2d\u3084\u8155\u306a\u3069\u306e\u4f53\u6bdb\u304c\u5c11\u3057\u6fc3\u3044\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E7%A5%9E%E7%B5%8C%E5%AD%A6%E7%9A%84%E7%97%87%E7%8A%B6\"><\/span><strong>3. \u795e\u7d4c\u5b66\u7684\u75c7\u72b6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08\u30cf\u30a4\u30dd\u30c8\u30cb\u30a2\uff09:<br>\u8d64\u3061\u3083\u3093\u306e\u9803\u3001\u300c\u4f53\u304c\u67d4\u3089\u304b\u3044\u300d\u300c\u62b1\u3063\u3053\u3057\u305f\u6642\u306b\u3075\u306b\u3083\u3063\u3068\u3057\u3066\u3044\u308b\u300d\u3068\u611f\u3058\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u306b\u3088\u308a\u3001\u54fa\u4e73\u529b\u304c\u5f31\u304b\u3063\u305f\u308a\u3001\u904b\u52d5\u767a\u9054\u304c\u9045\u308c\u305f\u308a\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3051\u3044\u308c\u3093\u30fb\u3066\u3093\u304b\u3093:<br>\u4e00\u90e8\u306e\u304a\u5b50\u69d8\u3067\u306f\u3001\u3066\u3093\u304b\u3093\u767a\u4f5c\u3092\u8d77\u3053\u3059\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u591a\u304f\u306e\u5834\u5408\u3001\u304a\u85ac\u3067\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u53ef\u80fd\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u8133\u6881\uff08\u306e\u3046\u308a\u3087\u3046\uff09\u306e\u7570\u5e38:<br>\u8133\u306e\u5de6\u53f3\u3092\u3064\u306a\u3050\u300c\u8133\u6881\u300d\u3068\u3044\u3046\u90e8\u5206\u304c\u8584\u3044\u3001\u3042\u308b\u3044\u306f\u5f62\u6210\u3055\u308c\u3066\u3044\u306a\u3044\u3053\u3068\u304cMRI\u691c\u67fb\u3067\u5206\u304b\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E3%81%9D%E3%81%AE%E4%BB%96%E3%81%AE%E5%90%88%E4%BD%B5%E7%97%87\"><\/span><strong>4. \u305d\u306e\u4ed6\u306e\u5408\u4f75\u75c7<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u773c\u306e\u75c7\u72b6:<\/strong> \u659c\u8996\u3001\u8996\u529b\u4f4e\u4e0b\u3001\u7db2\u819c\u306e\u7570\u5e38\u306a\u3069\u3002<\/li>\n\n\n\n<li><strong>\u96e3\u8074:<\/strong> \u4f1d\u97f3\u6027\u96e3\u8074\uff08\u4e2d\u8033\u306e\u554f\u984c\uff09\u3084\u611f\u97f3\u6027\u96e3\u8074\uff08\u795e\u7d4c\u306e\u554f\u984c\uff09\u3002<\/li>\n\n\n\n<li><strong>\u5fc3\u75be\u60a3:<\/strong> \u751f\u307e\u308c\u3064\u304d\u5fc3\u81d3\u306b\u7a74\u304c\u958b\u3044\u3066\u3044\u308b\u306a\u3069\uff08\u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d\u75c7\u306a\u3069\uff09\u3002<\/li>\n\n\n\n<li><strong>\u814e\u81d3\u3084\u6ccc\u5c3f\u5668\u306e\u7570\u5e38:<\/strong> \u814e\u81d3\u306e\u5f62\u3084\u4f4d\u7f6e\u306e\u7570\u5e38\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%8E%9F%E5%9B%A0\"><\/span><strong>\u539f\u56e0<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u3054\u5bb6\u65cf\u304c\u6700\u3082\u5fc3\u3092\u75db\u3081\u308b\u306e\u304c\u300c\u539f\u56e0\u300d\u306b\u3064\u3044\u3066\u3067\u3059\u304c\u3001\u3053\u3053\u3067\u5f37\u304f\u304a\u4f1d\u3048\u3057\u305f\u3044\u306e\u306f\u3001\u300c\u3054\u4e21\u89aa\u306e\u80b2\u3066\u65b9\u3084\u3001\u598a\u5a20\u4e2d\u306e\u904e\u3054\u3057\u65b9\u304c\u539f\u56e0\u3067\u306f\u306a\u3044\u300d\u3068\u3044\u3046\u3053\u3068\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E7%AA%81%E7%84%B6%E5%A4%89%E7%95%B0%EF%BC%88de_novo%E5%A4%89%E7%95%B0%EF%BC%89\"><\/span><strong>1. \u7a81\u7136\u5909\u7570\uff08de novo\u5909\u7570\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>6q24-q25\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u5927\u591a\u6570\u306f\u3001\u300cde novo\uff08\u30c7\u30fb\u30ce\u30dc\uff09\u300d\u3068\u547c\u3070\u308c\u308b\u7a81\u7136\u5909\u7570\u3067\u8d77\u3053\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7cbe\u5b50\u3084\u5375\u5b50\u304c\u4f5c\u3089\u308c\u308b\u904e\u7a0b\u3001\u3042\u308b\u3044\u306f\u53d7\u7cbe\u5f8c\u306e\u975e\u5e38\u306b\u65e9\u3044\u6bb5\u968e\u3067\u3001\u5076\u7136\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u5207\u308c\u3066\u306a\u304f\u306a\u3063\u3066\u3057\u307e\u3063\u305f\u3082\u306e\u3067\u3059\u3002\u3053\u308c\u306f\u8ab0\u306b\u3067\u3082\u8d77\u3053\u308a\u3046\u308b\u81ea\u7136\u306e\u78ba\u7387\u7684\u306a\u73fe\u8c61\u3067\u3042\u308a\u3001\u9632\u3050\u3053\u3068\u306f\u3067\u304d\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E8%A6%AA%E3%81%AE%E6%9F%93%E8%89%B2%E4%BD%93%E8%BB%A2%E5%BA%A7%EF%BC%88%E3%81%BE%E3%82%8C%E3%81%AA%E3%82%B1%E3%83%BC%E3%82%B9%EF%BC%89\"><\/span><strong>2. \u89aa\u306e\u67d3\u8272\u4f53\u8ee2\u5ea7\uff08\u307e\u308c\u306a\u30b1\u30fc\u30b9\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3054\u304f\u4e00\u90e8\u306e\u30b1\u30fc\u30b9\u3067\u306f\u3001\u3054\u4e21\u89aa\u306e\u3069\u3061\u3089\u304b\u304c\u300c\u5747\u8861\u578b\u8ee2\u5ea7\u300d\u3068\u3044\u3046\u67d3\u8272\u4f53\u306e\u30bf\u30a4\u30d7\u3092\u6301\u3063\u3066\u3044\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5747\u8861\u578b\u8ee2\u5ea7:<\/strong> \u67d3\u8272\u4f53\u306e\u5834\u6240\u304c\u5165\u308c\u66ff\u308f\u3063\u3066\u3044\u308b\u3060\u3051\u3067\u3001\u907a\u4f1d\u60c5\u5831\u306e\u904e\u4e0d\u8db3\u304c\u306a\u3044\u72b6\u614b\u3002\u3054\u672c\u4eba\u306b\u306f\u5168\u304f\u5065\u5eb7\u4e0a\u306e\u554f\u984c\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li>\u3057\u304b\u3057\u3001\u751f\u6b96\u7d30\u80de\uff08\u5375\u5b50\u3084\u7cbe\u5b50\uff09\u3092\u4f5c\u308b\u969b\u306b\u3001\u67d3\u8272\u4f53\u306e\u5206\u914d\u304c\u30a2\u30f3\u30d0\u30e9\u30f3\u30b9\u306b\u306a\u308a\u3001\u304a\u5b50\u69d8\u306b\u6b20\u5931\u304c\u751f\u3058\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u203b\u6b21\u306e\u598a\u5a20\u3092\u8003\u3048\u3066\u3044\u308b\u5834\u5408\u306a\u3069\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u78ba\u8a8d\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%A8%BA%E6%96%AD%E3%81%A8%E6%A4%9C%E6%9F%BB\"><\/span><strong>\u8a3a\u65ad\u3068\u691c\u67fb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u901a\u5e38\u306e\u767a\u9054\u5065\u8a3a\u3084\u7279\u5fb4\u7684\u306a\u75c7\u72b6\u304b\u3089\u533b\u5e2b\u304c\u7591\u3044\u3092\u6301\u3061\u3001\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u3092\u884c\u3046\u3053\u3068\u3067\u78ba\u5b9a\u8a3a\u65ad\u306b\u81f3\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E3%83%9E%E3%82%A4%E3%82%AF%E3%83%AD%E3%82%A2%E3%83%AC%E3%82%A4%E6%9F%93%E8%89%B2%E4%BD%93%E6%A4%9C%E6%9F%BB_CMA\"><\/span><strong>1. \u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb (CMA)<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u73fe\u5728\u3001\u3053\u306e\u75c7\u5019\u7fa4\u306e\u8a3a\u65ad\u306b\u304a\u3044\u3066\u6700\u3082\u91cd\u8981\u306a\u691c\u67fb\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u5f93\u6765\u306e\u9855\u5fae\u93e1\u3067\u898b\u308b\u691c\u67fb\uff08G\u5206\u67d3\u6cd5\uff09\u3067\u306f\u3001\u5c0f\u3055\u306a\u6b20\u5931\u306f\u898b\u9003\u3055\u308c\u3066\u3057\u307e\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3057\u305f\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u691c\u67fb\u306f\u3001DNA\u30ec\u30d9\u30eb\u3067\u67d3\u8272\u4f53\u3092\u8abf\u3079\u308b\u305f\u3081\u3001\u300c6\u756a\u67d3\u8272\u4f53\u306e24\u756a\u30d0\u30f3\u30c9\u304b\u308925\u756a\u30d0\u30f3\u30c9\u307e\u3067\u304c\u6b20\u3051\u3066\u3044\u308b\u300d\u3068\u3044\u3063\u305f\u5fae\u7d30\u306a\u5909\u5316\u3092\u6b63\u78ba\u306b\u691c\u51fa\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E7%94%BB%E5%83%8F%E6%A4%9C%E6%9F%BB\"><\/span><strong>2. \u753b\u50cf\u691c\u67fb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5408\u4f75\u75c7\u306e\u6709\u7121\u3092\u78ba\u8a8d\u3059\u308b\u305f\u3081\u306b\u884c\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u982d\u90e8MRI\/CT:<\/strong> \u8133\u306e\u69cb\u9020\uff08\u8133\u6881\u306e\u72b6\u614b\u306a\u3069\uff09\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5fc3\u81d3\u8d85\u97f3\u6ce2\u691c\u67fb:<\/strong> \u5fc3\u75be\u60a3\u304c\u306a\u3044\u304b\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8179\u90e8\u30a8\u30b3\u30fc:<\/strong> \u814e\u81d3\u306a\u3069\u306e\u5185\u81d3\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E7%9C%BC%E7%A7%91%E3%83%BB%E8%81%B4%E8%A6%9A%E6%A4%9C%E6%9F%BB\"><\/span><strong>3. \u773c\u79d1\u30fb\u8074\u899a\u691c\u67fb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u898b\u305f\u76ee\u3067\u306f\u5206\u304b\u308a\u306b\u304f\u3044\u8996\u529b\u3084\u8074\u529b\u306e\u554f\u984c\u3092\u65e9\u671f\u306b\u898b\u3064\u3051\u308b\u305f\u3081\u306b\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%B2%BB%E7%99%82%E3%81%A8%E7%AE%A1%E7%90%86%EF%BC%9A%E3%81%93%E3%82%8C%E3%81%8B%E3%82%89%E3%81%AE%E3%83%AD%E3%83%BC%E3%83%89%E3%83%9E%E3%83%83%E3%83%97\"><\/span><strong>\u6cbb\u7642\u3068\u7ba1\u7406\uff1a\u3053\u308c\u304b\u3089\u306e\u30ed\u30fc\u30c9\u30de\u30c3\u30d7<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u67d3\u8272\u4f53\u306e\u6b20\u5931\u305d\u306e\u3082\u306e\u3092\u85ac\u3084\u624b\u8853\u3067\u5143\u306b\u623b\u3059\u300c\u6839\u672c\u6cbb\u7642\u300d\u306f\u3001\u73fe\u5728\u306e\u533b\u7642\u3067\u306f\u307e\u3060\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u305d\u306e\u305f\u3081\u3001\u6cbb\u7642\u306e\u76ee\u7684\u306f\u300c\u75c7\u72b6\u3092\u548c\u3089\u3052\u3001\u304a\u5b50\u69d8\u306e\u6301\u3063\u3066\u3044\u308b\u80fd\u529b\u3092\u6700\u5927\u9650\u306b\u5f15\u304d\u51fa\u3059\u3053\u3068\u300d\uff08\u5bfe\u75c7\u7642\u6cd5\u3068\u7642\u80b2\uff09\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u65e9\u671f\u304b\u3089\u9069\u5207\u306a\u30b5\u30dd\u30fc\u30c8\u3092\u53d7\u3051\u308b\u3053\u3068\u3067\u3001\u304a\u5b50\u69d8\u306e\u751f\u6d3b\u306e\u8cea\uff08QOL\uff09\u306f\u5927\u304d\u304f\u5411\u4e0a\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E6%97%A9%E6%9C%9F%E7%99%82%E8%82%B2%EF%BC%88%E3%83%8F%E3%83%93%E3%83%AA%E3%83%86%E3%83%BC%E3%82%B7%E3%83%A7%E3%83%B3%EF%BC%89\"><\/span><strong>1. \u65e9\u671f\u7642\u80b2\uff08\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8133\u3084\u4f53\u306e\u767a\u9054\u304c\u8457\u3057\u3044\u4e73\u5e7c\u5150\u671f\u304b\u3089\u306e\u95a2\u308f\u308a\u304c\u975e\u5e38\u306b\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u7406\u5b66\u7642\u6cd5 (PT):<br>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u306b\u5bfe\u3057\u3066\u3001\u4f53\u306e\u4e2d\u5fc3\uff08\u4f53\u5e79\uff09\u3092\u935b\u3048\u3001\u5bdd\u8fd4\u308a\u30fb\u304a\u5ea7\u308a\u30fb\u6b69\u884c\u306a\u3069\u306e\u7c97\u5927\u904b\u52d5\u3092\u4fc3\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u4f5c\u696d\u7642\u6cd5 (OT):<br>\u624b\u5148\u306e\u4e0d\u5668\u7528\u3055\u3092\u6539\u5584\u3057\u3001\u304a\u3082\u3061\u3083\u3067\u904a\u3076\u3001\u30b9\u30d7\u30fc\u30f3\u3092\u6301\u3064\u3001\u7740\u66ff\u3048\u308b\u306a\u3069\u306e\u65e5\u5e38\u751f\u6d3b\u52d5\u4f5c\u3092\u7df4\u7fd2\u3057\u307e\u3059\u3002\u611f\u899a\u7d71\u5408\u7642\u6cd5\u306a\u3069\u3082\u53d6\u308a\u5165\u308c\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8a00\u8a9e\u8074\u899a\u7642\u6cd5 (ST):<br>\u8a00\u8449\u306e\u7406\u89e3\u3084\u8868\u51fa\u3092\u4fc3\u3057\u307e\u3059\u3002\u307e\u305f\u3001\u96e2\u4e73\u98df\u304c\u3046\u307e\u304f\u98df\u3079\u3089\u308c\u306a\u3044\uff08\u56a5\u4e0b\u969c\u5bb3\uff09\u5834\u5408\u306e\u30a2\u30c9\u30d0\u30a4\u30b9\u3082\u884c\u3044\u307e\u3059\u3002\u30b5\u30a4\u30f3\u3084\u7d75\u30ab\u30fc\u30c9\u306a\u3069\u3001\u8a00\u8449\u4ee5\u5916\u306e\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u624b\u6bb5\u3082\u691c\u8a0e\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E5%8C%BB%E7%99%82%E7%9A%84%E3%82%B1%E3%82%A2%E3%81%A8%E5%AE%9A%E6%9C%9F%E6%A4%9C%E8%A8%BA\"><\/span><strong>2. \u533b\u7642\u7684\u30b1\u30a2\u3068\u5b9a\u671f\u691c\u8a3a<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u3066\u3093\u304b\u3093\u306e\u7ba1\u7406:<br>\u767a\u4f5c\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u6297\u3066\u3093\u304b\u3093\u85ac\u3092\u670d\u7528\u3057\u3001\u8133\u6ce2\u691c\u67fb\u3067\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u72b6\u614b\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u773c\u79d1\u30fb\u8033\u9f3b\u79d1:<br>\u5b9a\u671f\u7684\u306b\u8996\u529b\u30fb\u8074\u529b\u3092\u30c1\u30a7\u30c3\u30af\u3057\u3001\u5fc5\u8981\u306a\u3089\u30e1\u30ac\u30cd\u3084\u88dc\u8074\u5668\u3067\u88dc\u6b63\u3057\u307e\u3059\u3002\u611f\u899a\u5165\u529b\uff08\u898b\u308b\u30fb\u805e\u304f\uff09\u3092\u6574\u3048\u308b\u3053\u3068\u306f\u3001\u767a\u9054\u306b\u3068\u3063\u3066\u975e\u5e38\u306b\u91cd\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u6804\u990a\u7ba1\u7406:<br>\u98df\u304c\u7d30\u3044\u3001\u4f53\u91cd\u304c\u5897\u3048\u306b\u304f\u3044\u5834\u5408\u306f\u3001\u6804\u990a\u58eb\u3068\u76f8\u8ac7\u3057\u3066\u9ad8\u30ab\u30ed\u30ea\u30fc\u306e\u98df\u4e8b\u5f62\u614b\u3092\u5de5\u592b\u3057\u305f\u308a\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u6804\u990a\u5264\u3092\u4f7f\u7528\u3057\u305f\u308a\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E6%95%99%E8%82%B2%E3%83%BB%E7%94%9F%E6%B4%BB%E7%92%B0%E5%A2%83%E3%81%AE%E8%AA%BF%E6%95%B4\"><\/span><strong>3. \u6559\u80b2\u30fb\u751f\u6d3b\u74b0\u5883\u306e\u8abf\u6574<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5c31\u5b66\u306b\u5411\u3051\u3066\u306f\u3001\u5730\u57df\u306e\u7642\u80b2\u30bb\u30f3\u30bf\u30fc\u3084\u6559\u80b2\u59d4\u54e1\u4f1a\u3068\u76f8\u8ac7\u3057\u3001\u304a\u5b50\u69d8\u306e\u7279\u6027\u306b\u5408\u3063\u305f\u74b0\u5883\u3092\u9078\u3073\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5c0f\u96c6\u56e3\u3067\u306e\u6307\u5c0e:<\/strong> \u7279\u5225\u652f\u63f4\u5b66\u7d1a\u3084\u7279\u5225\u652f\u63f4\u5b66\u6821\u306a\u3069\u3001\u500b\u5225\u306b\u76ee\u306e\u884c\u304d\u5c4a\u304f\u74b0\u5883\u304c\u9069\u3057\u3066\u3044\u308b\u5834\u5408\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8996\u899a\u7684\u652f\u63f4:<\/strong> \u8a00\u8449\u3067\u306e\u6307\u793a\u304c\u5165\u308a\u306b\u304f\u3044\u5834\u5408\u3001\u5199\u771f\u3084\u30b9\u30b1\u30b8\u30e5\u30fc\u30eb\u8868\u3092\u4f7f\u3046\u3068\u7406\u89e3\u3057\u3084\u3059\u304f\u306a\u308a\u307e\u3059\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\/2024\/11\/32943450_s.webp\" alt=\"\u8d64\u3061\u3083\u3093\" class=\"wp-image-117048\"\/><\/figure><\/div>\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%97%A5%E3%80%85%E3%81%AE%E7%94%9F%E6%B4%BB%E3%81%A7%E3%81%AE%E5%B7%A5%E5%A4%AB\"><\/span><strong>\u65e5\u3005\u306e\u751f\u6d3b\u3067\u306e\u5de5\u592b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>6q24-q25\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u304a\u5b50\u69d8\u3068\u306e\u751f\u6d3b\u3067\u3001\u30d2\u30f3\u30c8\u306b\u306a\u308b\u30dd\u30a4\u30f3\u30c8\u3092\u307e\u3068\u3081\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u300c\u30b9\u30e2\u30fc\u30eb\u30b9\u30c6\u30c3\u30d7\u300d\u3067\u8912\u3081\u308b:<br>\u4e00\u822c\u7684\u306a\u767a\u9054\u306e\u30de\u30a4\u30eb\u30b9\u30c8\u30fc\u30f3\uff08\u3007\u30f6\u6708\u3067\u3007\u3007\u304c\u3067\u304d\u308b\u7b49\uff09\u3068\u6bd4\u3079\u305a\u3001\u305d\u306e\u5b50\u81ea\u8eab\u306e\u300c\u5148\u6708\u300d\u3068\u300c\u4eca\u6708\u300d\u3092\u6bd4\u3079\u307e\u3057\u3087\u3046\u3002\u300c\u30b9\u30d7\u30fc\u30f3\u3092\u6301\u3066\u305f\u300d\u300c\u76ee\u304c\u5408\u3063\u3066\u7b11\u3063\u305f\u300d\u306a\u3069\u3001\u5c0f\u3055\u306a\u3067\u304d\u305f\uff01\u3092\u5bb6\u65cf\u3067\u559c\u3073\u5408\u3046\u3053\u3068\u304c\u3001\u89aa\u5b50\u306e\u81ea\u5df1\u80af\u5b9a\u611f\u3092\u9ad8\u3081\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u611f\u899a\u3078\u306e\u914d\u616e:<br>\u97f3\u306b\u654f\u611f\u3060\u3063\u305f\u308a\u3001\u9006\u306b\u75db\u307f\u3092\u611f\u3058\u306b\u304f\u304b\u3063\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u304a\u5b50\u69d8\u306e\u82e6\u624b\u306a\u523a\u6fc0\uff08\u30c9\u30e9\u30a4\u30e4\u30fc\u306e\u97f3\u3001\u7279\u5b9a\u306e\u670d\u306e\u808c\u89e6\u308a\u306a\u3069\uff09\u3092\u89b3\u5bdf\u3057\u3001\u5b89\u5fc3\u3067\u304d\u308b\u74b0\u5883\u3092\u4f5c\u3063\u3066\u3042\u3052\u307e\u3057\u3087\u3046\u3002<\/li>\n\n\n\n<li>\u611f\u67d3\u75c7\u5bfe\u7b56:<br>\u6c17\u9053\u304c\u5f31\u3044\u5834\u5408\u3084\u5fc3\u75be\u60a3\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u98a8\u90aa\u3092\u3053\u3058\u3089\u305b\u3084\u3059\u3044\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u624b\u6d17\u3044\u3084\u30ef\u30af\u30c1\u30f3\u63a5\u7a2e\u306a\u3069\u3001\u57fa\u672c\u7684\u306a\u4e88\u9632\u3092\u5927\u5207\u306b\u3057\u307e\u3057\u3087\u3046\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%BE%E3%81%A8%E3%82%81\"><\/span><strong>\u307e\u3068\u3081<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u3053\u3053\u307e\u3067\u306e\u91cd\u8981\u30dd\u30a4\u30f3\u30c8\u3092\u632f\u308a\u8fd4\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>6q24-q25\u6b20\u5931\u75c7\u5019\u7fa4<\/strong>\u306f\u30016\u756a\u67d3\u8272\u4f53\u9577\u8155\u306e\u4e00\u90e8\u6b20\u5931\u306b\u3088\u308b\u5e0c\u5c11\u75be\u60a3\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4e3b\u306a\u75c7\u72b6<\/strong>\u306f\u3001\u767a\u9054\u306e\u9045\u308c\u3001\u5c0f\u982d\u75c7\u3001\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3001\u624b\u8db3\uff08\u7279\u306b\u5c0f\u6307\uff09\u306e\u7279\u5fb4\u306a\u3069\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>ARID1B\u907a\u4f1d\u5b50<\/strong>\u304c\u542b\u307e\u308c\u308b\u5834\u5408\u3001<strong>\u30b3\u30d5\u30a3\u30f3\u30fb\u30b7\u30ea\u30b9\u75c7\u5019\u7fa4<\/strong>\u3068\u4f3c\u305f\u75c7\u72b6\u3092\u793a\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u539f\u56e0<\/strong>\u306e\u591a\u304f\u306f\u7a81\u7136\u5909\u7570\u3067\u3042\u308a\u3001\u89aa\u306e\u8cac\u4efb\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li><strong>\u6cbb\u7642<\/strong>\u306f\u3001\u5408\u4f75\u75c7\u306e\u7ba1\u7406\u3068\u3001\u65e9\u671f\u304b\u3089\u306e\u7642\u80b2\uff08PT, OT, ST\uff09\u304c\u6210\u9577\u306e\u30ab\u30ae\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%AE%B6%E6%97%8F%E3%81%B8%E3%81%AE%E3%83%A1%E3%83%83%E3%82%BB%E3%83%BC%E3%82%B8%EF%BC%9A%E3%82%86%E3%81%A3%E3%81%8F%E3%82%8A%E3%81%A7%E3%82%82%E3%80%81%E7%A2%BA%E5%AE%9F%E3%81%AB%E6%9C%AA%E6%9D%A5%E3%81%B8\"><\/span><strong>\u5bb6\u65cf\u3078\u306e\u30e1\u30c3\u30bb\u30fc\u30b8\uff1a\u3086\u3063\u304f\u308a\u3067\u3082\u3001\u78ba\u5b9f\u306b\u672a\u6765\u3078<\/strong><span 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