{"id":123237,"date":"2026-01-16T11:50:15","date_gmt":"2026-01-16T02:50:15","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=123237"},"modified":"2026-07-23T05:45:39","modified_gmt":"2026-07-22T20:45:39","slug":"developmental-epileptic-encephalopathy-17-gnao1-guide","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-17-gnao1-guide\/","title":{"rendered":"\u767a\u9054\u6027\u304a\u3088\u3073\u3066\u3093\u304b\u3093\u6027\u8133\u75c717\u578b\uff08Developmental and epileptic encephalopathy 17\uff09"},"content":{"rendered":"\n<div style=\"border:solid #ffe6e6 0.8rem;background-color: #fff9f9;padding:3% 5%;margin:1rem 0 3rem;\">\n<h2 style=\"margin-top:1rem;\">\u3053\u306e\u8a18\u4e8b\u306e\u307e\u3068\u3081<\/h2>\n<p><strong>\u767a\u9054\u6027\u304a\u3088\u3073\u3066\u3093\u304b\u3093\u6027\u8133\u75c717\u578b\uff08DEE17\uff09\u306f\u3001GNAO1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u4e73\u5150\u671f\u304b\u3089\u306e\u3066\u3093\u304b\u3093\u767a\u4f5c\u3068\u91cd\u5ea6\u306e\u767a\u9054\u306e\u9045\u308c\u304c\u751f\u3058\u308b\u3001\u4e16\u754c\u7684\u306b\u3082\u5831\u544a\u6570\u306e\u5c11\u306a\u3044\u5e0c\u5c11\u75be\u60a3\u3067\u3059\u3002<\/strong>\u307b\u3068\u3093\u3069\u304c\u4e21\u89aa\u7531\u6765\u3067\u306f\u306a\u3044\u7a81\u7136\u5909\u7570\uff08de novo\u5909\u7570\uff09\u3067\u767a\u75c7\u3057\u3001\u3054\u4e21\u89aa\u306e\u598a\u5a20\u4e2d\u306e\u751f\u6d3b\u304c\u539f\u56e0\u306b\u306a\u308b\u3053\u3068\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u672c\u8a18\u4e8b\u3067\u306f\u75c7\u72b6\u30fb\u539f\u56e0\u30fb\u8a3a\u65ad\u30fb\u6cbb\u7642\u306e\u6700\u65b0\u77e5\u898b\u306b\u52a0\u3048\u3001\u540c\u3058GNAO1\u907a\u4f1d\u5b50\u304b\u3089\u751f\u3058\u308b\u4e0d\u968f\u610f\u904b\u52d5\u512a\u4f4d\u578b\uff08GNAO1\u95a2\u9023\u969c\u5bb3\uff0fNEDIM\uff09\u3068\u306e\u9055\u3044\u3001\u6b21\u306e\u304a\u5b50\u69d8\u3078\u306e\u5f71\u97ff\u3001\u598a\u5a20\u4e2d\u306eNIPT\u3068\u306e\u95a2\u4fc2\u307e\u3067\u3092\u3001\u5b66\u8853\u6587\u732e\u306b\u3082\u3068\u3065\u3044\u3066\u6574\u7406\u3057\u307e\u3059\u3002<\/p><\/div>\n\n\n\n<div style=\"border:solid #e6f0ff 0.6rem;background-color:#f7fbff;padding:3% 5%;margin:1rem 0 3rem;\">\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_85 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">\u76ee\u6b21<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" height=\"10px\" viewBox=\"0 0 24 24\" version=\"1.2\" baseProfile=\"tiny\"><path d=\"M18.2 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-17-gnao1-guide\/#%E9%81%BA%E4%BC%9D%E5%AD%A6%E7%9A%84%E6%A4%9C%E6%9F%BB\" >\u907a\u4f1d\u5b66\u7684\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\/developmental-epileptic-encephalopathy-17-gnao1-guide\/#6_%E6%B2%BB%E7%99%82%E3%81%A8%E7%AE%A1%E7%90%86\" >6. \u6cbb\u7642\u3068\u7ba1\u7406<\/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\/developmental-epileptic-encephalopathy-17-gnao1-guide\/#%E3%81%A6%E3%82%93%E3%81%8B%E3%82%93%E3%81%AE%E6%B2%BB%E7%99%82\" >\u3066\u3093\u304b\u3093\u306e\u6cbb\u7642<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-19\" 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-17-gnao1-guide\/#%E6%97%A5%E5%B8%B8%E7%94%9F%E6%B4%BB%E3%81%AE%E3%82%B1%E3%82%A2\" >\u65e5\u5e38\u751f\u6d3b\u306e\u30b1\u30a2<\/a><\/li><\/ul><\/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\/developmental-epileptic-encephalopathy-17-gnao1-guide\/#7_%E3%81%A9%E3%82%8C%E3%81%8F%E3%82%89%E3%81%84%E3%81%AE%E6%82%A3%E8%80%85%E3%81%95%E3%82%93%E3%81%8C%E3%81%84%E3%82%8B%E3%81%AE%E3%81%8B\" >7. \u3069\u308c\u304f\u3089\u3044\u306e\u60a3\u8005\u3055\u3093\u304c\u3044\u308b\u306e\u304b<\/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\/developmental-epileptic-encephalopathy-17-gnao1-guide\/#8_%E4%BB%96%E3%81%AE%E9%81%BA%E4%BC%9D%E6%80%A7%E3%81%A6%E3%82%93%E3%81%8B%E3%82%93%E6%80%A7%E8%84%B3%E7%97%87%E3%81%A8%E3%81%AE%E9%96%A2%E4%BF%82\" >8. \u4ed6\u306e\u907a\u4f1d\u6027\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\u3068\u306e\u95a2\u4fc2<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-24\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-17-gnao1-guide\/#9_%E5%A6%8A%E5%A8%A0%E4%B8%AD%E3%81%AENIPT%E3%81%A8%E3%81%AE%E9%96%A2%E4%BF%82\" >9. \u598a\u5a20\u4e2d\u306eNIPT\u3068\u306e\u95a2\u4fc2<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-25\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-17-gnao1-guide\/#10_%E3%81%94%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\" >10. \u3054\u5bb6\u65cf\u3078\u306e\u30e1\u30c3\u30bb\u30fc\u30b8<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-26\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-17-gnao1-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-27\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-17-gnao1-guide\/#%E3%82%88%E3%81%8F%E3%81%82%E3%82%8B%E8%B3%AA%E5%95%8F\" >\u3088\u304f\u3042\u308b\u8cea\u554f<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-28\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-17-gnao1-guide\/#DEE17%E3%81%A8GNAO1%E9%96%A2%E9%80%A3%E9%9A%9C%E5%AE%B3%EF%BC%88NEDIM%EF%BC%89%E3%81%AF%E5%90%8C%E3%81%98%E7%97%85%E6%B0%97%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\" >DEE17\u3068GNAO1\u95a2\u9023\u969c\u5bb3\uff08NEDIM\uff09\u306f\u540c\u3058\u75c5\u6c17\u3067\u3059\u304b\u3002<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-29\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-17-gnao1-guide\/#%E4%B8%BB%E3%81%AA%E7%97%87%E7%8A%B6%E3%81%AF%E4%BD%95%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\" >\u4e3b\u306a\u75c7\u72b6\u306f\u4f55\u3067\u3059\u304b\u3002<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-30\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-17-gnao1-guide\/#%E8%A6%AA%E3%81%8B%E3%82%89%E9%81%BA%E4%BC%9D%E3%81%99%E3%82%8B%E3%81%AE%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\" >\u89aa\u304b\u3089\u907a\u4f1d\u3059\u308b\u306e\u3067\u3059\u304b\u3002<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-31\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-17-gnao1-guide\/#%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E6%B2%BB%E7%99%82%E6%B3%95%E3%81%8C%E3%81%82%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >\u3069\u306e\u3088\u3046\u306a\u6cbb\u7642\u6cd5\u304c\u3042\u308a\u307e\u3059\u304b\u3002<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-32\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-17-gnao1-guide\/#%E5%A6%8A%E5%A8%A0%E4%B8%AD%E3%81%AENIPT%E3%81%A7%E3%81%93%E3%81%AE%E7%97%85%E6%B0%97%E3%81%AF%E3%82%8F%E3%81%8B%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >\u598a\u5a20\u4e2d\u306eNIPT\u3067\u3053\u306e\u75c5\u6c17\u306f\u308f\u304b\u308a\u307e\u3059\u304b\u3002<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-33\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-17-gnao1-guide\/#DEE17%E3%81%AF%E6%8C%87%E5%AE%9A%E9%9B%A3%E7%97%85%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\" >DEE17\u306f\u6307\u5b9a\u96e3\u75c5\u3067\u3059\u304b\u3002<\/a><\/li><\/ul><\/li><\/ul><\/nav><\/div>\n<h2 style=\"margin-top:1rem;\"><span class=\"ez-toc-section\" id=\"%E3%81%93%E3%81%AE%E8%A8%98%E4%BA%8B%E3%81%A7%E3%82%8F%E3%81%8B%E3%82%8B%E3%81%93%E3%81%A8\"><\/span>\u3053\u306e\u8a18\u4e8b\u3067\u308f\u304b\u308b\u3053\u3068<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<ul>\n<li>DEE17\uff08GNAO1\u95a2\u9023\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\uff09\u306e\u75c7\u72b6\u3068\u3001\u3066\u3093\u304b\u3093\u767a\u4f5c\u30fb\u4e0d\u968f\u610f\u904b\u52d5\u305d\u308c\u305e\u308c\u306e\u7279\u5fb4<\/li>\n<li>\u539f\u56e0\u907a\u4f1d\u5b50GNAO1\u306e\u50cd\u304d\u3068\u3001\u306a\u305c\u3066\u3093\u304b\u3093\u578b\u3068\u904b\u52d5\u969c\u5bb3\u578b\u306b\u5206\u304b\u308c\u308b\u306e\u304b<\/li>\n<li>\u300c\u81ea\u5206\u306e\u305b\u3044\u3067\u306f\u306a\u3044\u304b\u300d\u3068\u3044\u3046\u4e0d\u5b89\u3078\u306e\u7b54\u3048\u3068\u3001\u6b21\u306e\u304a\u5b50\u69d8\u3078\u306e\u907a\u4f1d\u306e\u53ef\u80fd\u6027<\/li>\n<li>\u8a3a\u65ad\u30fb\u6cbb\u7642\uff08\u8133\u6df1\u90e8\u523a\u6fc0\u7642\u6cd5DBS\u306a\u3069\uff09\u306e\u73fe\u72b6\u3068\u3001\u598a\u5a20\u4e2d\u306eNIPT\u3068\u306e\u95a2\u4fc2<\/li>\n<\/ul>\n<\/div>\n\n\n\n<p>\u533b\u5e2b\u304b\u3089Developmental and epileptic encephalopathy 17\u3068\u3044\u3046\u975e\u5e38\u306b\u9577\u304f\u3001\u96e3\u89e3\u306a\u8a3a\u65ad\u540d\u3092\u544a\u3052\u3089\u308c\u3001\u60c5\u5831\u3092\u6c42\u3081\u3066\u3053\u306e\u30da\u30fc\u30b8\u306b\u305f\u3069\u308a\u7740\u3044\u305f\u3054\u5bb6\u65cf\u306e\u7686\u69d8\u3078\u3002<\/p>\n\n\n\n<p>\u307e\u3060\u5c0f\u3055\u306a\u304a\u5b50\u69d8\u306b\u3001\u65e5\u672c\u8a9e\u306e\u5b9a\u307e\u3063\u305f\u547c\u3073\u65b9\u3082\u307e\u3060\u6d78\u900f\u3057\u3066\u3044\u306a\u3044\u3088\u3046\u306a\u96e3\u75c5\u306e\u8a3a\u65ad\u304c\u4e0b\u308a\u3001\u8a08\u308a\u77e5\u308c\u306a\u3044\u30b7\u30e7\u30c3\u30af\u3068\u4e0d\u5b89\u306e\u4e2d\u306b\u3044\u3089\u3063\u3057\u3083\u308b\u3053\u3068\u3068\u601d\u3044\u307e\u3059\u3002\u7279\u306b\u3001\u3053\u306e\u75c5\u6c17\u306f\u4e16\u754c\u7684\u306b\u898b\u3066\u3082\u5e0c\u5c11\u75be\u60a3\u306e\u4e00\u3064\u306b\u6570\u3048\u3089\u308c\u308b\u305f\u3081\u3001\u65e5\u672c\u8a9e\u3067\u66f8\u304b\u308c\u305f\u8a73\u3057\u3044\u60c5\u5831\u306f\u30a4\u30f3\u30bf\u30fc\u30cd\u30c3\u30c8\u4e0a\u3067\u3082\u307b\u3068\u3093\u3069\u898b\u5f53\u305f\u308a\u307e\u305b\u3093\u3002\u533b\u5e2b\u3067\u3042\u3063\u3066\u3082\u3001\u3066\u3093\u304b\u3093\u3084\u907a\u4f1d\u3001\u795e\u7d4c\u5185\u79d1\u306e\u5c02\u9580\u5bb6\u3067\u306a\u3051\u308c\u3070\u8a73\u3057\u304f\u77e5\u3089\u306a\u3044\u3053\u3068\u3082\u73cd\u3057\u304f\u306a\u3044\u3001\u6bd4\u8f03\u7684\u65b0\u3057\u3044\u75be\u60a3\u6982\u5ff5\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u9577\u3044\u8a3a\u65ad\u540d\u3092\u65e5\u672c\u8a9e\u306b\u8a33\u3059\u3068\u3001\u767a\u9054\u6027\u304a\u3088\u3073\u3066\u3093\u304b\u3093\u6027\u8133\u75c717\u578b\u3068\u306a\u308a\u307e\u3059\u3002\u533b\u7642\u73fe\u5834\u3067\u306f\u3001\u982d\u6587\u5b57\u3092\u3068\u3063\u3066DEE17\uff08\u30c7\u30a3\u30fc\u30fb\u30a4\u30fc\u30fb\u30a4\u30fc\u30fb\u30b8\u30e5\u30a6\u30ca\u30ca\uff09\u3068\u547c\u3070\u308c\u308b\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u539f\u56e0\u3068\u306a\u308b\u907a\u4f1d\u5b50\u306e\u540d\u524d\u3092\u3068\u3063\u3066GNAO1\u95a2\u9023\u795e\u7d4c\u767a\u9054\u969c\u5bb3\u3084GNAO1\u95a2\u9023\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\u3068\u547c\u3070\u308c\u308b\u3053\u3068\u3082\u5897\u3048\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306f\u3001\u4e73\u5150\u671f\u306b\u3066\u3093\u304b\u3093\u767a\u4f5c\u304c\u59cb\u307e\u308a\u3001\u305d\u308c\u3068\u3068\u3082\u306b\u5168\u4f53\u7684\u306a\u767a\u9054\u306e\u9045\u308c\u3084\u3001\u81ea\u5206\u306e\u610f\u601d\u3068\u306f\u95a2\u4fc2\u306a\u304f\u4f53\u304c\u52d5\u3044\u3066\u3057\u307e\u3046\u4e0d\u968f\u610f\u904b\u52d5\u304c\u898b\u3089\u308c\u308b\u3068\u3044\u3046\u7279\u5fb4\u304c\u3042\u308a\u307e\u3059\u3002\u305d\u306e\u539f\u56e0\u3068\u3057\u3066\u3001GNAO1\u3068\u3044\u3046\u7279\u5b9a\u306e\u907a\u4f1d\u5b50\u306b\u5909\u5316\u304c\u8d77\u304d\u3066\u3044\u308b\u3053\u3068\u304c\u5206\u304b\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8133\u75c7\u3068\u3044\u3046\u8a00\u8449\u308417\u578b\u3068\u3044\u3046\u6570\u5b57\u306b\u5727\u5012\u3055\u308c\u3066\u3057\u307e\u3046\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u304c\u3001\u3053\u306e\u6570\u5b57\u306f\u767a\u898b\u3055\u308c\u305f\u9806\u756a\u3084\u907a\u4f1d\u5b50\u306e\u7a2e\u985e\u3092\u533a\u5225\u3059\u308b\u305f\u3081\u306e\u756a\u53f7\u3067\u3042\u308a\u3001\u91cd\u75c7\u5ea6\u3092\u8868\u3059\u6570\u5b57\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u539f\u56e0\u304c\u907a\u4f1d\u5b50\u306b\u3042\u308b\u3053\u3068\u304c\u5206\u304b\u3063\u305f\u3068\u3044\u3046\u3053\u3068\u306f\u3001\u3053\u308c\u304b\u3089\u8d77\u3053\u308a\u3046\u308b\u3053\u3068\u3078\u306e\u5bfe\u7b56\u304c\u7acb\u3066\u3084\u3059\u304f\u306a\u308a\u3001\u304a\u5b50\u3055\u3093\u306b\u5408\u3063\u305f\u7642\u80b2\u3084\u30b1\u30a2\u306e\u30d7\u30e9\u30f3\u3092\u8003\u3048\u308b\u305f\u3081\u306e\u5730\u56f3\u3092\u624b\u306b\u5165\u308c\u305f\u3068\u3044\u3046\u3053\u3068\u3067\u3082\u3042\u308a\u307e\u3059\u3002\u79c1\u81ea\u8eab\u3001NIPT\u306e\u3054\u76f8\u8ac7\u306e\u4e2d\u3067\u300c\u539f\u56e0\u304c\u308f\u304b\u3063\u3066\u3001\u304b\u3048\u3063\u3066\u843d\u3061\u7740\u3044\u305f\u300d\u3068\u3044\u3046\u58f0\u3092\u4f3a\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u3042\u307e\u308a\u6050\u308c\u3059\u304e\u305a\u3001\u4e00\u3064\u3072\u3068\u3064\u6574\u7406\u3057\u3066\u3044\u304d\u307e\u3057\u3087\u3046\u3002<\/p>\n\n\n<!--nipt_mono-->\r\n<div class=\"nipt-mono\">\r\n    <div class=\"nipt-mono-btn\">\r\n        <a href=\"\/nipt\/nipt-mono\/\">\r\n            <img decoding=\"async\" loading=\"lazy\" src=\"\/nipt\/wp-content\/uploads\/2026\/03\/NIPT-MONO.webp\" alt=\"NIPT-MONO\u3067\u8abf\u3079\u3089\u308c\u307e\u3059\">\r\n         <\/a>\r\n    <\/div>\r\n<\/div>\r\n\r\n<style>\r\n.nipt-mono {\r\n    text-align: center; \/* \u89aa\u8981\u7d20\u3067\u6a2a\u4e2d\u592e *\/\r\n}\r\n.nipt-mono a img {\r\n    display: inline-block; \/* \u753b\u50cf\u3092\u30a4\u30f3\u30e9\u30a4\u30f3\u30d6\u30ed\u30c3\u30af\u5316\u3057\u3066 text-align \u306b\u53cd\u6620 *\/\r\n    width: 333px;\r\n}\r\n<\/style>\r\n<!--\/nipt_mono-->\r\n\r\n\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%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>1. \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><strong>DEE17\u306f\u3001GNAO1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308a\u8133\u306e\u795e\u7d4c\u4f1d\u9054\u306b\u7570\u5e38\u304c\u751f\u3058\u3001\u3066\u3093\u304b\u3093\u767a\u4f5c\u3068\u767a\u9054\u306e\u9045\u308c\u304c\u540c\u6642\u306b\u9032\u884c\u3059\u308b\u5148\u5929\u6027\u306e\u75be\u60a3\u3067\u3059\u3002<\/strong>\u307e\u305a\u3001\u3053\u306e\u75c5\u540d\u30b0\u30eb\u30fc\u30d7\u306e\u610f\u5473\u3092\u7406\u89e3\u3059\u308b\u3053\u3068\u304b\u3089\u59cb\u3081\u307e\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<p>\u767a\u9054\u6027\u3068\u306f\u3001\u751f\u307e\u308c\u6301\u3063\u305f\u907a\u4f1d\u5b50\u306e\u5909\u5316\u305d\u306e\u3082\u306e\u304c\u3001\u8133\u306e\u767a\u9054\u3084\u6210\u9577\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u3066\u3044\u308b\u3053\u3068\u3092\u610f\u5473\u3057\u307e\u3059\u3002\u3064\u307e\u308a\u3001\u3066\u3093\u304b\u3093\u767a\u4f5c\u304c\u3042\u308b\u304b\u3089\u767a\u9054\u304c\u9045\u308c\u308b\u3060\u3051\u3067\u306a\u304f\u3001\u767a\u4f5c\u304c\u306a\u304f\u3066\u3082\u767a\u9054\u306b\u8ab2\u984c\u304c\u751f\u3058\u308b\u4f53\u8cea\u3067\u3042\u308b\u3053\u3068\u3092\u793a\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3066\u3093\u304b\u3093\u6027\u3068\u306f\u3001\u983b\u7e41\u306a\u3066\u3093\u304b\u3093\u767a\u4f5c\u3084\u3001\u8133\u6ce2\u306e\u6fc0\u3057\u3044\u4e71\u308c\u304c\u3001\u8133\u306e\u6a5f\u80fd\u3084\u767a\u9054\u306b\u3055\u3089\u306a\u308b\u60aa\u5f71\u97ff\u3092\u4e0e\u3048\u3066\u3044\u308b\u72b6\u614b\u3092\u6307\u3057\u307e\u3059\u3002\u8133\u75c7\u3068\u306f\u3001\u8133\u5168\u4f53\u306e\u50cd\u304d\u306b\u5e83\u7bc4\u306a\u5f71\u97ff\u304c\u51fa\u3066\u3044\u308b\u72b6\u614b\u3092\u6307\u3059\u533b\u5b66\u7528\u8a9e\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3064\u307e\u308a\u3001DEE17\u306f\u907a\u4f1d\u5b50\u306e\u5f71\u97ff\u306b\u3088\u308b\u767a\u9054\u306e\u9045\u308c\u3068\u3001\u3066\u3093\u304b\u3093\u767a\u4f5c\u306b\u3088\u308b\u8133\u3078\u306e\u8ca0\u62c5\u306e\u4e8c\u3064\u306e\u8981\u7d20\u304c\u5408\u308f\u3055\u3063\u3066\u3001\u767a\u9054\u3084\u795e\u7d4c\u306e\u75c7\u72b6\u304c\u73fe\u308c\u308b\u75c5\u6c17\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e17\u578b\u306f\u3001GNAO1\uff08\u30b8\u30fc\u30fb\u30a8\u30cc\u30fb\u30a8\u30fc\u30fb\u30aa\u30fc\u30fb\u30ef\u30f3\uff09\u3068\u3044\u3046\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u3053\u3068\u304c2013\u5e74\u306e\u7814\u7a76\u3067\u660e\u3089\u304b\u306b\u306a\u308a\u307e\u3057\u305f\u3002\u56fd\u5185\u3067\u306f\u6a2a\u6d5c\u5e02\u7acb\u5927\u5b66\u306e\u7814\u7a76\u30b0\u30eb\u30fc\u30d7\u304c\u3001\u6cbb\u7642\u85ac\u306e\u52b9\u304d\u306b\u304f\u3044\u96e3\u6cbb\u6027\u3066\u3093\u304b\u3093\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u3068\u3057\u3066GNAO1\u5909\u7570\u3092\u4e16\u754c\u306b\u5148\u99c6\u3051\u3066\u5831\u544a\u3057\u305f\u7d4c\u7def\u304c\u3042\u308a\u307e\u3059\u3002\u6bd4\u8f03\u7684\u65b0\u3057\u3044\u75be\u60a3\u6982\u5ff5\u3067\u3042\u308a\u306a\u304c\u3089\u3001\u65e5\u672c\u306e\u7814\u7a76\u304c\u8a3a\u65ad\u78ba\u7acb\u306e\u571f\u53f0\u3092\u7bc9\u3044\u3066\u304d\u305f\u9818\u57df\u3068\u3044\u3048\u307e\u3059\u3002<\/p>\n\n\n\n<p>GNAO1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306f\u3001\u75c7\u72b6\u306e\u51fa\u65b9\u306b\u3088\u3063\u3066\u5927\u304d\u304f\u4e8c\u3064\u306e\u30bf\u30a4\u30d7\u306b\u5206\u3051\u3089\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002\u4e00\u3064\u306f\u3066\u3093\u304b\u3093\u304c\u4e3b\u75c7\u72b6\u306e\u30bf\u30a4\u30d7\u3001\u3082\u3046\u4e00\u3064\u306f\u6fc0\u3057\u3044\u4e0d\u968f\u610f\u904b\u52d5\u304c\u4e3b\u75c7\u72b6\u306e\u30bf\u30a4\u30d7\u3067\u3059\u3002DEE17\u306f\u3001\u3053\u306e\u4e2d\u3067\u3082\u3066\u3093\u304b\u3093\u767a\u4f5c\u3092\u4f34\u3044\u3001\u767a\u9054\u306e\u9045\u308c\u304c\u898b\u3089\u308c\u308b\u30bf\u30a4\u30d7\u3092\u6307\u3057\u307e\u3059\u304c\u3001\u6210\u9577\u3068\u3068\u3082\u306b\u4e0d\u968f\u610f\u904b\u52d5\u304c\u73fe\u308c\u308b\u3053\u3068\u3082\u591a\u304f\u3001\u4e21\u65b9\u306e\u7279\u5fb4\u3092\u4f75\u305b\u6301\u3064\u304a\u5b50\u3055\u3093\u3082\u5c11\u306a\u304f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E4%B8%BB%E3%81%AA%E7%97%87%E7%8A%B6\"><\/span><strong>2. \u4e3b\u306a\u75c7\u72b6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>DEE17\u306e\u75c7\u72b6\u306f\u3001\u3066\u3093\u304b\u3093\u767a\u4f5c\u3001\u767a\u9054\u306e\u9045\u308c\u3001\u305d\u3057\u3066\u7279\u5fb4\u7684\u306a\u4e0d\u968f\u610f\u904b\u52d5\u306e\u4e09\u3064\u306b\u5927\u304d\u304f\u5206\u3051\u3089\u308c\u307e\u3059\u3002<\/strong>\u304a\u5b50\u3055\u3093\u306b\u3088\u3063\u3066\u75c7\u72b6\u306e\u91cd\u3055\u3084\u51fa\u65b9\u306f\u7570\u306a\u308a\u307e\u3059\u304c\u3001\u3053\u308c\u307e\u3067\u306b\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u4ee3\u8868\u7684\u306a\u7279\u5fb4\u306b\u3064\u3044\u3066\u8a73\u3057\u304f\u898b\u3066\u3044\u304d\u307e\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%A6%E3%82%93%E3%81%8B%E3%82%93%E7%99%BA%E4%BD%9C\"><\/span><strong>\u3066\u3093\u304b\u3093\u767a\u4f5c<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u591a\u304f\u306e\u60a3\u8005\u3055\u3093\u306b\u304a\u3044\u3066\u3001\u751f\u5f8c\u6570\u30f6\u6708\u4ee5\u5185\u306e\u4e73\u5150\u671f\u65e9\u671f\u306b\u3066\u3093\u304b\u3093\u767a\u4f5c\u304c\u59cb\u307e\u308a\u307e\u3059\u3002\u4e2d\u306b\u306f\u3001\u751f\u5f8c\u6570\u65e5\u4ee5\u5185\u306e\u65b0\u751f\u5150\u671f\u304b\u3089\u767a\u4f5c\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u767a\u4f5c\u306e\u5f62\u306f\u69d8\u3005\u3067\u3059\u304c\u3001\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u30bf\u30a4\u30d7\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<figure class=\"wp-table-block\"><table><thead><tr><th>\u767a\u4f5c\u306e\u30bf\u30a4\u30d7<\/th><th>\u7279\u5fb4<\/th><\/tr><\/thead><tbody><tr><td>\u3066\u3093\u304b\u3093\u6027\u30b9\u30d1\u30ba\u30e0<\/td><td>\u4e21\u624b\u3092\u5e83\u3052\u3066\u304a\u8f9e\u5100\u3092\u3059\u308b\u3088\u3046\u306a\u52d5\u4f5c\u3092\u3001\u6570\u79d2\u304a\u304d\u306b\u7e70\u308a\u8fd4\u3059\u767a\u4f5c\u3002\u30b7\u30ea\u30fc\u30ba\u5f62\u6210\u304c\u7279\u5fb4\u3067\u3001\u5927\u7530\u539f\u75c7\u5019\u7fa4\u3084\u30a6\u30a8\u30b9\u30c8\u75c7\u5019\u7fa4\u306e\u8a3a\u65ad\u57fa\u6e96\u3092\u6e80\u305f\u3059\u3053\u3068\u3082\u3042\u308b<\/td><\/tr><tr><td>\u7126\u70b9\u767a\u4f5c<\/td><td>\u4f53\u306e\u4e00\u90e8\u304c\u30d4\u30af\u30d4\u30af\u52d5\u3044\u305f\u308a\u3001\u8996\u7dda\u304c\u504f\u3063\u305f\u308a\u3059\u308b\u767a\u4f5c<\/td><\/tr><tr><td>\u5f37\u76f4\u767a\u4f5c<\/td><td>\u624b\u8db3\u304c\u7a81\u3063\u5f35\u3063\u3066\u786c\u304f\u306a\u308b\u767a\u4f5c<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<p>DEE17\u306e\u3066\u3093\u304b\u3093\u767a\u4f5c\u306f\u3001\u4e00\u822c\u7684\u306a\u6297\u3066\u3093\u304b\u3093\u85ac\u304c\u52b9\u304d\u306b\u304f\u3044\u96e3\u6cbb\u6027\u3067\u3042\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002\u8907\u6570\u306e\u85ac\u3092\u7d44\u307f\u5408\u308f\u305b\u3066\u3082\u767a\u4f5c\u3092\u5b8c\u5168\u306b\u6b62\u3081\u308b\u3053\u3068\u304c\u96e3\u3057\u3044\u5834\u5408\u304c\u3042\u308a\u3001\u767a\u4f5c\u306e\u56de\u6570\u3092\u6e1b\u3089\u3057\u3001\u751f\u6d3b\u306b\u652f\u969c\u304c\u51fa\u306a\u3044\u3088\u3046\u306b\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3057\u3066\u3044\u304f\u3053\u3068\u304c\u76ee\u6a19\u306b\u306a\u308a\u307e\u3059\u3002\u6210\u9577\u3068\u3068\u3082\u306b\u767a\u4f5c\u306e\u983b\u5ea6\u304c\u6e1b\u3063\u305f\u308a\u3001\u6d88\u5931\u3057\u305f\u308a\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%8B%E5%8B%95%E9%9A%9C%E5%AE%B3%EF%BC%88%E4%B8%8D%E9%9A%8F%E6%84%8F%E9%81%8B%E5%8B%95%EF%BC%89\"><\/span><strong>\u904b\u52d5\u969c\u5bb3\uff08\u4e0d\u968f\u610f\u904b\u52d5\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3053\u308c\u306fDEE17\u3001\u304a\u3088\u3073GNAO1\u907a\u4f1d\u5b50\u5909\u7570\u3092\u6301\u3064\u304a\u5b50\u3055\u3093\u306b\u3068\u3063\u3066\u3001\u975e\u5e38\u306b\u91cd\u8981\u304b\u3064\u6ce8\u610f\u304c\u5fc5\u8981\u306a\u75c7\u72b6\u3067\u3059\u3002\u3066\u3093\u304b\u3093\u767a\u4f5c\u3068\u306f\u5225\u306b\u3001\u81ea\u5206\u306e\u610f\u601d\u3068\u306f\u95a2\u4fc2\u306a\u304f\u4f53\u304c\u52dd\u624b\u306b\u52d5\u3044\u3066\u3057\u307e\u3046\u75c7\u72b6\u304c\u73fe\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u30b8\u30b9\u30ad\u30cd\u30b8\u30a2\u30fb\u30b3\u30ec\u30a2<\/strong>\u306f\u3001\u624b\u8db3\u3084\u9854\u3001\u53e3\u306a\u3069\u304c\u304f\u306d\u304f\u306d\u3068\u8e0a\u308b\u3088\u3046\u306b\u52d5\u3044\u305f\u308a\u3001\u6fc0\u3057\u304f\u30d0\u30bf\u30d0\u30bf\u3068\u52d5\u3044\u305f\u308a\u3059\u308b\u75c7\u72b6\u3067\u3059\u3002<strong>\u30b8\u30b9\u30c8\u30cb\u30a2<\/strong>\u306f\u3001\u7b4b\u8089\u304c\u52dd\u624b\u306b\u53ce\u7e2e\u3057\u3066\u3001\u4f53\u304c\u306d\u3058\u308c\u305f\u308a\u3001\u624b\u8db3\u304c\u7a81\u3063\u5f35\u3063\u3066\u5909\u306a\u59ff\u52e2\u3067\u56fa\u307e\u3063\u3066\u3057\u307e\u3063\u305f\u308a\u3059\u308b\u75c7\u72b6\u3092\u6307\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7279\u306b\u6ce8\u610f\u304c\u5fc5\u8981\u306a\u306e\u304c\u3001\u611f\u67d3\u75c7\u306b\u3088\u308b\u767a\u71b1\u3084\u30b9\u30c8\u30ec\u30b9\u306a\u3069\u3092\u304d\u3063\u304b\u3051\u306b\u3001\u3053\u306e\u4e0d\u968f\u610f\u904b\u52d5\u304c\u6fc0\u3057\u304f\u306a\u308a\u6b62\u307e\u3089\u306a\u304f\u306a\u3063\u3066\u3057\u307e\u3046\u30b8\u30b9\u30ad\u30cd\u30b8\u30a2\u91cd\u7a4d\u30fb\u30b8\u30b9\u30c8\u30cb\u30a2\u91cd\u7a4d\u3068\u547c\u3070\u308c\u308b\u72b6\u614b\u3067\u3059\u3002\u4f53\u304c\u6fc0\u3057\u304f\u52d5\u304d\u7d9a\u3051\u308b\u305f\u3081\u3001\u4f53\u529b\u3092\u6fc0\u3057\u304f\u6d88\u8017\u3057\u3001\u7b4b\u8089\u304c\u58ca\u308c\u3066\u3057\u307e\u3046\u6a2a\u7d0b\u7b4b\u878d\u89e3\u75c7\u3084\u3001\u8131\u6c34\u3001\u9ad8\u71b1\u306a\u3069\u3092\u5f15\u304d\u8d77\u3053\u3057\u3001\u547d\u306b\u95a2\u308f\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u3066\u3093\u304b\u3093\u767a\u4f5c\u3068\u898b\u5206\u3051\u304c\u3064\u304d\u306b\u304f\u3044\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u610f\u8b58\u304c\u3042\u308b\u3053\u3068\u304c\u591a\u3044\u306e\u304c\u7279\u5fb4\u3067\u3059\u3002\u3053\u306e\u3088\u3046\u306a\u72b6\u614b\u306b\u306a\u3063\u305f\u5834\u5408\u306f\u3001\u96c6\u4e2d\u6cbb\u7642\u5ba4\u3067\u306e\u7dca\u6025\u6cbb\u7642\u304c\u5fc5\u8981\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%99%BA%E9%81%94%E3%81%A8%E7%A5%9E%E7%B5%8C%E3%81%AE%E7%97%87%E7%8A%B6\"><\/span><strong>\u767a\u9054\u3068\u795e\u7d4c\u306e\u75c7\u72b6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u767a\u4f5c\u3068\u4e26\u3093\u3067\u3001\u91cd\u5ea6\u306e\u767a\u9054\u306e\u9045\u308c\u304c\u898b\u3089\u308c\u307e\u3059\u3002\u9996\u304c\u3059\u308f\u308b\u3001\u76ee\u3067\u3082\u306e\u3092\u8ffd\u3046\u3001\u304a\u5ea7\u308a\u3092\u3059\u308b\u3001\u30cf\u30a4\u30cf\u30a4\u3092\u3059\u308b\u3068\u3044\u3063\u305f\u904b\u52d5\u9762\u306e\u767a\u9054\u3068\u3001\u3042\u3084\u3059\u3068\u7b11\u3046\u3001\u8a00\u8449\u3092\u7406\u89e3\u3059\u308b\u3068\u3044\u3063\u305f\u7cbe\u795e\u9762\u306e\u767a\u9054\u306e\u4e21\u65b9\u304c\u3001\u4e00\u822c\u7684\u306a\u30da\u30fc\u30b9\u3088\u308a\u3082\u304b\u306a\u308a\u3086\u3063\u304f\u308a\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u591a\u304f\u306e\u5834\u5408\u3001\u91cd\u5ea6\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3092\u4f34\u3044\u307e\u3059\u3002\u8a00\u8449\u306b\u3088\u308b\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u304c\u96e3\u3057\u3044\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u30b8\u30a7\u30b9\u30c1\u30e3\u30fc\u3084\u8868\u60c5\u3067\u611f\u60c5\u3092\u4f1d\u3048\u305f\u308a\u3001\u3053\u3061\u3089\u306e\u8a00\u3063\u3066\u3044\u308b\u3053\u3068\u3092\u7406\u89e3\u3057\u3066\u3044\u305f\u308a\u3059\u308b\u304a\u5b50\u3055\u3093\u3082\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8d64\u3061\u3083\u3093\u306e\u9803\u306b\u3001\u4f53\u304c\u3075\u306b\u3083\u3075\u306b\u3083\u3068\u3057\u3066\u67d4\u3089\u304b\u3044\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u975e\u5e38\u306b\u591a\u3044\u3067\u3059\u3002\u62b1\u3063\u3053\u3057\u305f\u6642\u306b\u305a\u3063\u3057\u308a\u3068\u91cd\u304f\u611f\u3058\u305f\u308a\u3001\u95a2\u7bc0\u304c\u67d4\u3089\u304b\u3059\u304e\u305f\u308a\u3057\u307e\u3059\u3002\u3053\u306e\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u306b\u3088\u3063\u3066\u3001\u904b\u52d5\u767a\u9054\u304c\u3055\u3089\u306b\u3086\u3063\u304f\u308a\u306b\u306a\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%9D%E3%81%AE%E4%BB%96%E3%81%AE%E7%97%87%E7%8A%B6\"><\/span><strong>\u305d\u306e\u4ed6\u306e\u75c7\u72b6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u304a\u3063\u3071\u3044\u3084\u30df\u30eb\u30af\u3092\u98f2\u3080\u529b\u304c\u5f31\u3044\u54fa\u4e73\u969c\u5bb3\u3084\u3001\u98df\u3079\u7269\u3092\u98f2\u307f\u8fbc\u3080\u306e\u304c\u82e6\u624b\u306a\u56a5\u4e0b\u969c\u5bb3\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u307e\u305f\u3001\u8996\u7dda\u3092\u5408\u308f\u305b\u306b\u304f\u3044\u3068\u3044\u3063\u305f\u8996\u899a\u7684\u306a\u53cd\u5fdc\u306e\u4e4f\u3057\u3055\u3084\u3001\u7761\u7720\u969c\u5bb3\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E5%8E%9F%E5%9B%A0%EF%BC%9AGNAO1%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AE%E5%83%8D%E3%81%8D\"><\/span><strong>3. \u539f\u56e0\uff1aGNAO1\u907a\u4f1d\u5b50\u306e\u50cd\u304d<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>DEE17\u306e\u539f\u56e0\u306f\u3001\u7d30\u80de\u306e\u4e2d\u3067\u60c5\u5831\u3092\u4f1d\u3048\u308b\u30e1\u30c3\u30bb\u30f3\u30b8\u30e3\u30fc\u306e\u5f79\u5272\u3092\u3059\u308b\u30bf\u30f3\u30d1\u30af\u8cea\u3001GNAO1\u306e\u7570\u5e38\u3067\u3059\u3002<\/strong>\u306a\u305c\u3001\u3066\u3093\u304b\u3093\u304c\u8d77\u304d\u305f\u308a\u3001\u4f53\u304c\u52dd\u624b\u306b\u52d5\u3044\u305f\u308a\u3059\u308b\u306e\u304b\u3092\u898b\u3066\u3044\u304d\u307e\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"GNAO1%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AE%E5%BD%B9%E5%89%B2\"><\/span><strong>GNAO1\u907a\u4f1d\u5b50\u306e\u5f79\u5272<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>DEE17\u306e\u539f\u56e0\u306f\u3001\u7b2c16\u756a\u67d3\u8272\u4f53\u306b\u3042\u308bGNAO1\uff08\u30b8\u30fc\u30fb\u30a8\u30cc\u30fb\u30a8\u30fc\u30fb\u30aa\u30fc\u30fb\u30ef\u30f3\uff09\u3068\u3044\u3046\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3067\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306f\u3001G\u30bf\u30f3\u30d1\u30af\u8cea\u30a2\u30eb\u30d5\u30a1\u30b5\u30d6\u30e6\u30cb\u30c3\u30c8\uff08G\u03b1o\uff09\u3068\u3044\u3046\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u4f5c\u308b\u305f\u3081\u306e\u8a2d\u8a08\u56f3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u79c1\u305f\u3061\u306e\u4f53\u306e\u4e2d\u3067\u306f\u3001\u7d30\u80de\u306e\u5916\u304b\u3089\u306e\u523a\u6fc0\u3084\u60c5\u5831\u3092\u7d30\u80de\u306e\u4e2d\u306b\u4f1d\u3048\u308b\u305f\u3081\u306b\u3001\u69d8\u3005\u306a\u30b7\u30b0\u30ca\u30eb\u4f1d\u9054\u3068\u3044\u3046\u4ed5\u7d44\u307f\u304c\u50cd\u3044\u3066\u3044\u307e\u3059\u3002G\u30bf\u30f3\u30d1\u30af\u8cea\u306f\u3001\u3053\u306e\u60c5\u5831\u306e\u53d7\u3051\u6e21\u3057\u3092\u884c\u3046\u975e\u5e38\u306b\u91cd\u8981\u306a\u30e1\u30c3\u30bb\u30f3\u30b8\u30e3\u30fc\u3067\u3059\u3002\u7279\u306bGNAO1\u304c\u4f5c\u308b\u30bf\u30f3\u30d1\u30af\u8cea\u306f\u3001\u8133\u306e\u795e\u7d4c\u7d30\u80de\u306b\u975e\u5e38\u306b\u591a\u304f\u5b58\u5728\u3057\u3001\u795e\u7d4c\u7d30\u80de\u306e\u8208\u596e\u3092\u6291\u3048\u305f\u308a\u3001\u904b\u52d5\u3092\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3057\u305f\u308a\u3059\u308b\u4fe1\u53f7\u3092\u4f1d\u3048\u308b\u306e\u306b\u4e2d\u5fc3\u7684\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%A6%E3%82%93%E3%81%8B%E3%82%93%E5%9E%8B%E3%81%A8%E9%81%8B%E5%8B%95%E9%9A%9C%E5%AE%B3%E5%9E%8B%E3%82%92%E5%88%86%E3%81%91%E3%82%8B%E4%BB%95%E7%B5%84%E3%81%BF\"><\/span><strong>\u3066\u3093\u304b\u3093\u578b\u3068\u904b\u52d5\u969c\u5bb3\u578b\u3092\u5206\u3051\u308b\u4ed5\u7d44\u307f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>GNAO1\u907a\u4f1d\u5b50\u306b\u5909\u7570\u304c\u8d77\u304d\u308b\u3068\u3001\u3053\u306e\u30e1\u30c3\u30bb\u30f3\u30b8\u30e3\u30fc\u3067\u3042\u308b\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u5f62\u304c\u5909\u308f\u3063\u3066\u3057\u307e\u3063\u305f\u308a\u3001\u3046\u307e\u304f\u50cd\u304b\u306a\u304f\u306a\u3063\u305f\u308a\u3057\u307e\u3059\u3002\u6d77\u5916\u306e\u7814\u7a76\u30c1\u30fc\u30e0\u306b\u3088\u308b\u6a5f\u80fd\u89e3\u6790\u3067\u306f\u3001\u5909\u7570\u306e\u30bf\u30a4\u30d7\u3068\u75c7\u72b6\u306e\u51fa\u65b9\u306b\u4e00\u5b9a\u306e\u5bfe\u5fdc\u95a2\u4fc2\u304c\u3042\u308b\u3053\u3068\u304c\u793a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<figure class=\"wp-table-block\"><table><thead><tr><th>\u5909\u7570\u306e\u30bf\u30a4\u30d7<\/th><th>\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u5909\u5316<\/th><th>\u73fe\u308c\u3084\u3059\u3044\u75c7\u72b6<\/th><\/tr><\/thead><tbody><tr><td>\u6a5f\u80fd\u55aa\u5931\u578b\uff08Loss of Function\uff09<\/td><td>\u30e1\u30c3\u30bb\u30f3\u30b8\u30e3\u30fc\u304c\u50cd\u304b\u305a\u3001\u4fe1\u53f7\u304c\u4f1d\u308f\u3089\u306a\u3044<\/td><td>\u3066\u3093\u304b\u3093\u767a\u4f5c\u304c\u4e2d\u5fc3\u3002DEE17\u3067\u306f\u3053\u306e\u30bf\u30a4\u30d7\u304c\u591a\u3044\u50be\u5411<\/td><\/tr><tr><td>\u6a5f\u80fd\u7372\u5f97\u578b\uff08Gain of Function\uff09<\/td><td>\u30e1\u30c3\u30bb\u30f3\u30b8\u30e3\u30fc\u304c\u904e\u5270\u306b\u50cd\u304f\u3001\u307e\u305f\u306f\u8aa4\u3063\u305f\u4fe1\u53f7\u3092\u4f1d\u3048\u7d9a\u3051\u308b<\/td><td>\u6fc0\u3057\u3044\u4e0d\u968f\u610f\u904b\u52d5\u304c\u4e2d\u5fc3\uff08GNAO1\u95a2\u9023\u969c\u5bb3\uff0fNEDIM\uff09<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<p>\u5b9f\u969b\u306b\u306f\u3001\u3053\u308c\u3089\u306e\u6a5f\u80fd\u306e\u5909\u5316\u306f\u8907\u96d1\u3067\u3001\u4e00\u3064\u306e\u5909\u7570\u304c\u3066\u3093\u304b\u3093\u3068\u4e0d\u968f\u610f\u904b\u52d5\u306e\u4e21\u65b9\u3092\u5f15\u304d\u8d77\u3053\u3059\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u8133\u306e\u4e2d\u306e\u4fe1\u53f7\u4f1d\u9054\u304c\u3046\u307e\u304f\u3044\u304b\u306a\u3044\u3053\u3068\u3067\u3001\u795e\u7d4c\u56de\u8def\u306e\u5f62\u6210\u3084\u6a5f\u80fd\u306b\u652f\u969c\u304c\u51fa\u3066\u3001\u3066\u3093\u304b\u3093\u3001\u904b\u52d5\u969c\u5bb3\u3001\u767a\u9054\u306e\u9045\u308c\u3068\u3044\u3046\u4e09\u3064\u306e\u5927\u304d\u306a\u75c7\u72b6\u304c\u73fe\u308c\u308b\u306e\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u5bfe\u5fdc\u95a2\u4fc2\u306b\u3064\u3044\u3066\u306f\u3001\u5f8c\u8ff0\u3059\u308b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/gnao1-related-neurodevelopmental-disorder-guide\/\">\u4e0d\u968f\u610f\u904b\u52d5\u512a\u4f4d\u578b\uff08GNAO1\u95a2\u9023\u969c\u5bb3\uff09\u306e\u8a18\u4e8b<\/a>\u3068\u3042\u308f\u305b\u3066\u8aad\u3080\u3068\u3001GNAO1\u95a2\u9023\u75be\u60a3\u5168\u4f53\u306e\u898b\u53d6\u308a\u56f3\u304c\u3064\u304b\u307f\u3084\u3059\u304f\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/gnao1-related-neurodevelopmental-disorder-guide\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u4e0d\u968f\u610f\u904b\u52d5\u3092\u4f34\u3046\u795e\u7d4c\u767a\u9054\u969c\u5bb3\uff08GNAO1\u95a2\u9023\u969c\u5bb3\uff09 <\/div>\n          <div class=\"blog-card-excerpt\">\u4e0d\u968f\u610f\u904b\u52d5\u3092\u4f34\u3046\u795e\u7d4c\u767a\u9054\u969c\u5bb3\uff08NEDIM\uff0fGNAO1\u95a2\u9023\u969c\u5bb3\uff09\u3068\u8a3a\u65ad\u3055\u308c\u305f\u65b9\u3001\u3054\u5bb6\u65cf\u3078\u3002GNAO1\u907a\u4f1d\u5b50\u5909\u7570\u306b\u3088\u308b\u3053\u306e\u75c5\u6c17\u306e\u7279\u5fb4\u3001\u81ea\u5206\u306e\u610f\u601d...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%BA%E4%BC%9D%E3%81%AB%E3%81%A4%E3%81%84%E3%81%A6%EF%BC%9A%E3%81%94%E8%87%AA%E8%BA%AB%E3%82%92%E8%B2%AC%E3%82%81%E3%81%AA%E3%81%84%E3%81%A7%E3%81%8F%E3%81%A0%E3%81%95%E3%81%84\"><\/span><strong>\u907a\u4f1d\u306b\u3064\u3044\u3066\uff1a\u3054\u81ea\u8eab\u3092\u8cac\u3081\u306a\u3044\u3067\u304f\u3060\u3055\u3044<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u591a\u304f\u306e\u3054\u5bb6\u65cf\u304c\u3001\u89aa\u304b\u3089\u907a\u4f1d\u3057\u305f\u306e\u304b\u3001\u598a\u5a20\u4e2d\u306e\u751f\u6d3b\u306b\u554f\u984c\u304c\u3042\u3063\u305f\u306e\u304b\u3068\u3054\u81ea\u8eab\u3092\u8cac\u3081\u3066\u3057\u307e\u308f\u308c\u307e\u3059\u3002\u3057\u304b\u3057\u3001\u91cd\u75c7\u578b\u3067\u3042\u308bDEE17\u306e\u307b\u3068\u3093\u3069\u306e\u30b1\u30fc\u30b9\u306f\u3001\u65b0\u751f\u7a81\u7136\u5909\u7570\uff08de novo\u5909\u7570\uff09\u306b\u3088\u308b\u3082\u306e\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u308c\u306f\u3001\u3054\u4e21\u89aa\u306e\u907a\u4f1d\u5b50\u306b\u306f\u5168\u304f\u7570\u5e38\u304c\u306a\u304f\u3001\u7cbe\u5b50\u3084\u5375\u5b50\u304c\u4f5c\u3089\u308c\u308b\u904e\u7a0b\u3001\u3042\u308b\u3044\u306f\u53d7\u7cbe\u3057\u305f\u76f4\u5f8c\u306e\u7d30\u80de\u5206\u88c2\u306e\u6bb5\u968e\u3067\u3001\u5076\u7136\u306bGNAO1\u907a\u4f1d\u5b50\u306b\u5909\u5316\u304c\u8d77\u304d\u305f\u3053\u3068\u3092\u610f\u5473\u3057\u307e\u3059\u3002<strong>\u3064\u307e\u308a\u3001\u3054\u4e21\u89aa\u306e\u3069\u3061\u3089\u304b\u306e\u305b\u3044\u3067\u907a\u4f1d\u3057\u305f\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/strong>\u307e\u305f\u3001\u598a\u5a20\u4e2d\u306e\u304a\u6bcd\u3055\u3093\u306e\u98df\u4e8b\u3001\u304a\u85ac\u3001\u30b9\u30c8\u30ec\u30b9\u3001\u74b0\u5883\u306a\u3069\u304c\u539f\u56e0\u3067\u8d77\u304d\u308b\u3082\u306e\u3067\u3082\u6c7a\u3057\u3066\u3042\u308a\u307e\u305b\u3093\u3002\u8ab0\u306b\u3067\u3082\u8d77\u3053\u308a\u3046\u308b\u3001\u751f\u547d\u306e\u8a95\u751f\u306b\u304a\u3051\u308b\u5076\u7136\u306e\u73fe\u8c61\u306a\u306e\u3067\u3059\u3002<\/p>\n\n\n<!--nipt_mono-->\r\n<div class=\"nipt-mono\">\r\n    <div class=\"nipt-mono-btn\">\r\n        <a href=\"\/nipt\/nipt-mono\/\">\r\n            <img decoding=\"async\" loading=\"lazy\" src=\"\/nipt\/wp-content\/uploads\/2026\/03\/NIPT-MONO.webp\" alt=\"NIPT-MONO\u3067\u8abf\u3079\u3089\u308c\u307e\u3059\">\r\n         <\/a>\r\n    <\/div>\r\n<\/div>\r\n\r\n<style>\r\n.nipt-mono {\r\n    text-align: center; \/* \u89aa\u8981\u7d20\u3067\u6a2a\u4e2d\u592e *\/\r\n}\r\n.nipt-mono a img {\r\n    display: inline-block; \/* \u753b\u50cf\u3092\u30a4\u30f3\u30e9\u30a4\u30f3\u30d6\u30ed\u30c3\u30af\u5316\u3057\u3066 text-align \u306b\u53cd\u6620 *\/\r\n    width: 333px;\r\n}\r\n<\/style>\r\n<!--\/nipt_mono-->\r\n\r\n\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"479\" src=\"\/nipt\/wp-content\/uploads\/2025\/10\/22826504_s-1.webp\" alt=\"\u8d64\u3061\u3083\u3093\" class=\"wp-image-117054\"\/><\/figure><\/div>\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E6%AC%A1%E3%81%AE%E3%81%8A%E5%AD%90%E6%A7%98%E3%81%B8%E3%81%AE%E5%BD%B1%E9%9F%BF%EF%BC%9A%E9%81%BA%E4%BC%9D%E5%BD%A2%E5%BC%8F%E3%81%A8%E5%86%8D%E7%99%BA%E3%83%AA%E3%82%B9%E3%82%AF\"><\/span><strong>4. \u6b21\u306e\u304a\u5b50\u69d8\u3078\u306e\u5f71\u97ff\uff1a\u907a\u4f1d\u5f62\u5f0f\u3068\u518d\u767a\u30ea\u30b9\u30af<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>DEE17\u306f\u5e38\u67d3\u8272\u4f53\u9855\u6027\u907a\u4f1d\u306e\u5f62\u5f0f\u3092\u3068\u308a\u307e\u3059\u304c\u3001\u5b9f\u969b\u306e\u60a3\u8005\u3055\u3093\u306e\u307b\u3068\u3093\u3069\u306f\u5b64\u767a\u4f8b\uff08\u5bb6\u65cf\u5185\u3067\u4e00\u4eba\u3060\u3051\uff09\u3067\u3059\u3002<\/strong>\u300c\u6b21\u306e\u5b50\u306b\u3082\u540c\u3058\u3053\u3068\u304c\u8d77\u3053\u308b\u306e\u304b\u300d\u3068\u3044\u3046\u3054\u5fc3\u914d\u306f\u3001\u3054\u5bb6\u65cf\u304c\u6700\u3082\u77e5\u308a\u305f\u3044\u70b9\u306e\u4e00\u3064\u3067\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<p>\u6d77\u5916\u306e\u75c7\u4f8b\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u3092\u307e\u3068\u3081\u305f\u5831\u544a\u3067\u306f\u3001DEE17\u3092\u306f\u3058\u3081\u3068\u3059\u308b\u91cd\u75c7\u578b\u306eGNAO1\u95a2\u9023\u969c\u5bb3\u306f\u307b\u3068\u3093\u3069\u304cde novo\u5909\u7570\u306b\u3088\u308b\u5b64\u767a\u4f8b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u305f\u3060\u3057\u3001\u4e21\u89aa\u306e\u3069\u3061\u3089\u306b\u3082\u5909\u7570\u304c\u898b\u3089\u308c\u306a\u3044\u30b1\u30fc\u30b9\u3067\u3082\u3001\u3054\u304f\u307e\u308c\u306b<strong>\u751f\u6b96\u7d30\u80de<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mosaicism\/\">\u30e2\u30b6\u30a4\u30af<\/a><\/strong>\uff08\u89aa\u306e\u7cbe\u5b50\u3084\u5375\u5b50\u306e\u4e00\u90e8\u306b\u3060\u3051\u5909\u7570\u304c\u751f\u3058\u3066\u3044\u308b\u72b6\u614b\uff09\u306b\u3088\u308a\u3001\u304d\u3087\u3046\u3060\u3044\u306b\u518d\u767a\u3057\u305f\u4f8b\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u4e21\u89aa\u306e\u8840\u6db2\u691c\u67fb\u3067\u5909\u7570\u304c\u691c\u51fa\u3055\u308c\u306a\u3044\u5834\u5408\u3067\u3082\u3001\u3053\u306e\u53ef\u80fd\u6027\u304c\u3042\u308b\u5206\u3060\u3051\u3001\u4e00\u822c\u96c6\u56e3\u3088\u308a\u308f\u305a\u304b\u306b\u30ea\u30b9\u30af\u304c\u9ad8\u304f\u306a\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u304a\u5b50\u3055\u3093\u306eGNAO1\u5909\u7570\u304c\u7279\u5b9a\u3055\u308c\u3066\u3044\u308c\u3070\u3001\u6b21\u306e\u598a\u5a20\u3067\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chorionic-villus-test\/\">\u7d68\u6bdb\u691c\u67fb<\/a>\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u3067\u305d\u306e\u7279\u5b9a\u306e\u5909\u7570\u306e\u6709\u7121\u3092\u76f4\u63a5\u8abf\u3079\u308b\u78ba\u5b9a\u7684\u306a<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u3084\u3001\u4f53\u5916\u53d7\u7cbe\u3092\u884c\u3046\u5834\u5408\u306f\u7740\u5e8a\u524d\u907a\u4f1d\u5b66\u7684\u691c\u67fb\uff08PGT\uff09\u304c\u9078\u629e\u80a2\u306b\u306a\u308a\u307e\u3059\u3002\u6b21\u306e\u304a\u5b50\u69d8\u3078\u306e\u5f71\u97ff\u304c\u3069\u306e\u7a0b\u5ea6\u304b\u306f\u3001\u81e8\u5e8a\u907a\u4f1d\u5c02\u9580\u533b\u3084\u8a8d\u5b9a\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u306b\u3088\u308b<a href=\"https:\/\/www.jshg.jp\/about\/license\/\" target=\"_blank\" rel=\"noopener\">\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/a>\u3067\u500b\u5225\u306b\u78ba\u8a8d\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"5_%E8%A8%BA%E6%96%AD%E3%81%A8%E6%A4%9C%E6%9F%BB\"><\/span><strong>5. \u8a3a\u65ad\u3068\u691c\u67fb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u8a3a\u65ad\u306f\u3001\u75c7\u72b6\u306e\u89b3\u5bdf\u3001\u8133\u6ce2\u691c\u67fb\u3001\u753b\u50cf\u691c\u67fb\u3001\u305d\u3057\u3066\u907a\u4f1d\u5b50\u691c\u67fb\u3092\u7d44\u307f\u5408\u308f\u305b\u3066\u884c\u308f\u308c\u307e\u3059\u3002<\/strong>DEE17\u306f\u75c7\u72b6\u3060\u3051\u3067\u306f\u4ed6\u306e\u767a\u9054\u969c\u5bb3\u3084\u3066\u3093\u304b\u3093\u75c7\u5019\u7fa4\u3068\u533a\u5225\u304c\u3064\u304b\u306a\u3044\u3053\u3068\u304c\u591a\u3044\u305f\u3081\u3001\u6700\u7d42\u7684\u306b\u306f\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u304c\u78ba\u5b9a\u8a3a\u65ad\u306e\u6c7a\u3081\u624b\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%84%B3%E6%B3%A2%E6%A4%9C%E6%9F%BB\"><\/span><strong>\u8133\u6ce2\u691c\u67fb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3066\u3093\u304b\u3093\u767a\u4f5c\u306e\u8a3a\u65ad\u3084\u3001\u8133\u306e\u6d3b\u52d5\u72b6\u614b\u3092\u8abf\u3079\u308b\u305f\u3081\u306b\u4e0d\u53ef\u6b20\u306a\u691c\u67fb\u3067\u3059\u3002DEE17\u306e\u304a\u5b50\u3055\u3093\u306e\u8133\u6ce2\u3067\u306f\u3001\u30b5\u30d7\u30ec\u30c3\u30b7\u30e7\u30f3\u30fb\u30d0\u30fc\u30b9\u30c8\u3068\u547c\u3070\u308c\u308b\u7279\u5fb4\u7684\u306a\u30d1\u30bf\u30fc\u30f3\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u306f\u3001\u8133\u6ce2\u304c\u5e73\u5766\u306b\u306a\u308b\u6642\u671f\u3068\u6fc0\u3057\u3044\u6ce2\u304c\u51fa\u308b\u6642\u671f\u3092\u4ea4\u4e92\u306b\u7e70\u308a\u8fd4\u3059\u3082\u306e\u3067\u3001\u5927\u7530\u539f\u75c7\u5019\u7fa4\u306a\u3069\u306e\u91cd\u7be4\u306a\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\u3067\u898b\u3089\u308c\u308b\u6240\u898b\u3067\u3059\u3002\u307e\u305f\u3001\u6210\u9577\u3068\u3068\u3082\u306b\u30d2\u30d7\u30b9\u30a2\u30ea\u30b9\u30df\u30a2\u3068\u547c\u3070\u308c\u308b\u70b9\u982d\u3066\u3093\u304b\u3093\u306b\u7279\u5fb4\u7684\u306a\u4e71\u308c\u305f\u6ce2\u5f62\u3084\u3001\u591a\u7126\u70b9\u6027\u30b9\u30d1\u30a4\u30af\u3068\u3044\u3063\u3066\u8133\u306e\u3042\u3061\u3053\u3061\u304b\u3089\u3066\u3093\u304b\u3093\u6ce2\u304c\u51fa\u3066\u3044\u308b\u72b6\u614b\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%94%BB%E5%83%8F%E6%A4%9C%E6%9F%BB%EF%BC%88MRI%EF%BC%89\"><\/span><strong>\u753b\u50cf\u691c\u67fb\uff08MRI\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8133\u306e\u5f62\u3084\u69cb\u9020\u3092\u8a73\u3057\u304f\u8abf\u3079\u308b\u305f\u3081\u306bMRI\u691c\u67fb\u304c\u884c\u308f\u308c\u307e\u3059\u3002\u767a\u75c7\u521d\u671f\u306b\u306f\u3001\u8133\u306e\u5f62\u306b\u660e\u3089\u304b\u306a\u7570\u5e38\u306f\u898b\u3089\u308c\u306a\u3044\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002\u3057\u304b\u3057\u3001\u767a\u4f5c\u304c\u9577\u304f\u7d9a\u3044\u305f\u5f8c\u3084\u3001\u5e74\u9f62\u304c\u9032\u3093\u3067\u304f\u308b\u3068\u3001\u8133\u5168\u4f53\u304c\u5c11\u3057\u840e\u7e2e\u3057\u3066\u5c0f\u3055\u304f\u306a\u3063\u3066\u3044\u308b\u69d8\u5b50\u3084\u3001\u9ac4\u9798\u5316\uff08\u795e\u7d4c\u306e\u4f1d\u9054\u901f\u5ea6\u3092\u4e0a\u3052\u308b\u305f\u3081\u306e\u88ab\u8986\uff09\u304c\u9045\u308c\u3066\u3044\u308b\u69d8\u5b50\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%BA%E4%BC%9D%E5%AD%A6%E7%9A%84%E6%A4%9C%E6%9F%BB\"><\/span><strong>\u907a\u4f1d\u5b66\u7684\u691c\u67fb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u78ba\u5b9a\u8a3a\u65ad\u306e\u305f\u3081\u306b\u306f\u3001\u8840\u6db2\u3092\u63a1\u53d6\u3057\u3066DNA\u3092\u8abf\u3079\u308b\u691c\u67fb\u304c\u5fc5\u8981\u3067\u3059\u3002\u8fd1\u5e74\u6025\u901f\u306b\u666e\u53ca\u3057\u3066\u304d\u305f\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b5\u30fc\u3068\u3044\u3046\u6280\u8853\u3092\u7528\u3044\u305f\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\uff08WES\uff09\u3084\u3001\u3066\u3093\u304b\u3093\u95a2\u9023\u907a\u4f1d\u5b50\u30d1\u30cd\u30eb\u691c\u67fb\u304c\u884c\u308f\u308c\u308b\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\u3059\u3002\u3053\u308c\u306f\u3001\u907a\u4f1d\u5b50\u306e\u3046\u3061\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u4f5c\u308b\u91cd\u8981\u306a\u90e8\u5206\u3092\u7db2\u7f85\u7684\u306b\u3059\u3079\u3066\u89e3\u8aad\u3059\u308b\u691c\u67fb\u3067\u3059\u3002\u3053\u306e\u7db2\u7f85\u7684\u306a\u907a\u4f1d\u5b50\u691c\u67fb\u3092\u884c\u3063\u3066\u521d\u3081\u3066GNAO1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u304c\u898b\u3064\u304b\u308a\u3001\u8a3a\u65ad\u306b\u81f3\u308b\u30b1\u30fc\u30b9\u304c\u307b\u3068\u3093\u3069\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u56fd\u5185\u3067\u3082\u3001\u767a\u9054\u306e\u9045\u308c\u3084\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3092\u4e3b\u8a34\u306b\u3001\u521d\u671f\u306e\u8133MRI\u3084\u8133\u6ce2\u691c\u67fb\u3067\u306f\u539f\u56e0\u304c\u308f\u304b\u3089\u306a\u304b\u3063\u305f\u304a\u5b50\u3055\u3093\u304c\u3001\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u30b7\u30fc\u30b1\u30f3\u30b9\uff08WES\uff09\u306b\u3088\u3063\u3066GNAO1\u306e\u65b0\u898f\u5909\u7570\u304c\u540c\u5b9a\u3055\u308c\u3001\u78ba\u5b9a\u8a3a\u65ad\u306b\u81f3\u3063\u305f\u75c7\u4f8b\u304c\u5b66\u4f1a\u8a8c\u306b\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u672a\u8a3a\u65ad\u75be\u60a3\u306e\u89e3\u660e\u3092\u76ee\u7684\u3068\u3057\u305f\u7814\u7a76\u4e8b\u696d\uff08IRUD\uff09\u3078\u306e\u767b\u9332\u304c\u3001\u8a3a\u65ad\u78ba\u5b9a\u306e\u5f8c\u62bc\u3057\u306b\u306a\u3063\u305f\u30b1\u30fc\u30b9\u3082\u3042\u308a\u307e\u3059\u3002\u8a3a\u65ad\u304c\u3064\u304f\u307e\u3067\u306b\u8907\u6570\u306e\u533b\u7642\u6a5f\u95a2\u3092\u56de\u3063\u305f\u3001\u3068\u3044\u3046\u3054\u5bb6\u65cf\u306e\u7d4c\u9a13\u306f\u73cd\u3057\u304f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"6_%E6%B2%BB%E7%99%82%E3%81%A8%E7%AE%A1%E7%90%86\"><\/span><strong>6. \u6cbb\u7642\u3068\u7ba1\u7406<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u907a\u4f1d\u5b50\u306e\u5909\u5316\u305d\u306e\u3082\u306e\u3092\u4fee\u5fa9\u3057\u3066\u75c5\u6c17\u3092\u6839\u672c\u304b\u3089\u6cbb\u3059\u6cbb\u7642\u6cd5\u306f\u3001\u73fe\u6642\u70b9\u3067\u306f\u307e\u3060\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002<\/strong>\u3057\u304b\u3057\u3001\u305d\u308c\u305e\u308c\u306e\u75c7\u72b6\u306b\u5bfe\u3057\u3066\u9069\u5207\u306a\u6cbb\u7642\uff08\u5bfe\u75c7\u7642\u6cd5\uff09\u3068\u30b5\u30dd\u30fc\u30c8\uff08\u7642\u80b2\uff09\u3092\u884c\u3046\u3053\u3068\u3067\u3001\u304a\u5b50\u3055\u3093\u306e\u82e6\u75db\u3092\u548c\u3089\u3052\u3001\u6301\u3063\u3066\u3044\u308b\u529b\u3092\u6700\u5927\u9650\u306b\u5f15\u304d\u51fa\u3057\u3001\u751f\u6d3b\u306e\u8cea\uff08QOL\uff09\u3092\u9ad8\u3081\u308b\u3053\u3068\u306f\u5341\u5206\u306b\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%A6%E3%82%93%E3%81%8B%E3%82%93%E3%81%AE%E6%B2%BB%E7%99%82\"><\/span><strong>\u3066\u3093\u304b\u3093\u306e\u6cbb\u7642<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3066\u3093\u304b\u3093\u767a\u4f5c\u3092\u6e1b\u3089\u3059\u305f\u3081\u306b\u3001\u6297\u3066\u3093\u304b\u3093\u85ac\u306b\u3088\u308b\u6cbb\u7642\u3092\u884c\u3044\u307e\u3059\u3002GNAO1\u5909\u7570\u306b\u5bfe\u3059\u308b\u7279\u52b9\u85ac\u3068\u3044\u3046\u3082\u306e\u306f\u307e\u3060\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u304c\u3001\u767a\u4f5c\u306e\u30bf\u30a4\u30d7\u306b\u5408\u308f\u305b\u3066\u69d8\u3005\u306a\u304a\u85ac\u304c\u8a66\u3055\u308c\u307e\u3059\u3002\u30d5\u30a7\u30ce\u30d0\u30eb\u30d3\u30bf\u30fc\u30eb\u3001\u30ec\u30d9\u30c1\u30e9\u30bb\u30bf\u30e0\u3001\u30d0\u30eb\u30d7\u30ed\u9178\u3001\u30af\u30ed\u30d0\u30b6\u30e0\u3001\u30c8\u30d4\u30e9\u30de\u30fc\u30c8\u306a\u3069\u304c\u4f7f\u308f\u308c\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u6d77\u5916\u306e\u5831\u544a\u3067\u306f\u5e73\u5747\u3057\u30663\u5264\u524d\u5f8c\u3092\u7d44\u307f\u5408\u308f\u305b\u3066\u767a\u4f5c\u306e\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3092\u8a66\u307f\u308b\u30b1\u30fc\u30b9\u304c\u76ee\u7acb\u3061\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u70b9\u982d\u3066\u3093\u304b\u3093\uff08\u30a6\u30a8\u30b9\u30c8\u75c7\u5019\u7fa4\uff09\u306e\u30d1\u30bf\u30fc\u30f3\u3092\u793a\u3059\u5834\u5408\u306f\u3001\u526f\u814e\u76ae\u8cea\u523a\u6fc0\u30db\u30eb\u30e2\u30f3\uff08ACTH\uff09\u7642\u6cd5\u3068\u3044\u3046\u6ce8\u5c04\u306e\u6cbb\u7642\u304c\u691c\u8a0e\u3055\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u307e\u305f\u3001\u304a\u85ac\u3067\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u304c\u96e3\u3057\u3044\u5834\u5408\u306f\u3001\u30b1\u30c8\u30f3\u98df\u7642\u6cd5\uff08\u8102\u80aa\u5206\u3092\u591a\u304f\u3001\u7cd6\u8cea\u3092\u6975\u7aef\u306b\u5c11\u306a\u304f\u3057\u305f\u98df\u4e8b\u7642\u6cd5\uff09\u304c\u9078\u629e\u80a2\u306b\u5165\u308b\u3053\u3068\u304c\u3042\u308a\u3001GNAO1\u95a2\u9023\u75be\u60a3\u306e\u3066\u3093\u304b\u3093\u306b\u5bfe\u3057\u3066\u30b1\u30c8\u30f3\u98df\u7642\u6cd5\u304c\u6709\u52b9\u3060\u3063\u305f\u3068\u3059\u308b\u75c7\u4f8b\u5831\u544a\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%8B%E5%8B%95%E9%9A%9C%E5%AE%B3%EF%BC%88%E4%B8%8D%E9%9A%8F%E6%84%8F%E9%81%8B%E5%8B%95%EF%BC%89%E3%81%AE%E6%B2%BB%E7%99%82%E3%81%A8%E7%AE%A1%E7%90%86\"><\/span><strong>\u904b\u52d5\u969c\u5bb3\uff08\u4e0d\u968f\u610f\u904b\u52d5\uff09\u306e\u6cbb\u7642\u3068\u7ba1\u7406<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3053\u3053\u304cGNAO1\u95a2\u9023\u75be\u60a3\u306e\u30b1\u30a2\u306b\u304a\u3044\u3066\u975e\u5e38\u306b\u91cd\u8981\u306a\u30dd\u30a4\u30f3\u30c8\u3067\u3059\u3002\u30b8\u30b9\u30ad\u30cd\u30b8\u30a2\u3084\u30b8\u30b9\u30c8\u30cb\u30a2\u306a\u3069\u306e\u4e0d\u968f\u610f\u904b\u52d5\u306b\u5bfe\u3057\u3066\u306f\u3001\u6297\u3066\u3093\u304b\u3093\u85ac\u3068\u306f\u7570\u306a\u308b\u304a\u85ac\u3092\u4f7f\u3044\u307e\u3059\u3002\u30c6\u30c8\u30e9\u30d9\u30ca\u30b8\u30f3\u306a\u3069\u306e\u30c9\u30d1\u30df\u30f3\u3092\u8abf\u7bc0\u3059\u308b\u304a\u85ac\u3084\u3001\u30c8\u30ea\u30d8\u30ad\u30b7\u30d5\u30a7\u30cb\u30b8\u30eb\u3001\u30af\u30ed\u30cb\u30b8\u30f3\u3001\u7b4b\u7dca\u5f35\u3092\u548c\u3089\u3052\u308b\u30d0\u30af\u30ed\u30d5\u30a7\u30f3\u306a\u3069\u304c\u8a66\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4e0d\u968f\u610f\u904b\u52d5\u304c\u6b62\u307e\u3089\u306a\u304f\u306a\u308b\u91cd\u7a4d\u767a\u4f5c\u304c\u8d77\u304d\u305f\u5834\u5408\u306f\u3001\u5165\u9662\u3057\u3066\u70b9\u6ef4\u3067\u93ae\u9759\u5264\u3092\u5165\u308c\u308b\u306a\u3069\u306e\u96c6\u4e2d\u6cbb\u7642\u304c\u5fc5\u8981\u3067\u3059\u3002\u85ac\u7269\u7642\u6cd5\u3067\u3082\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u304c\u96e3\u3057\u3044\u91cd\u5ea6\u306e\u4e0d\u968f\u610f\u904b\u52d5\u306b\u5bfe\u3057\u3066\u306f\u3001<strong>\u8133\u6df1\u90e8\u523a\u6fc0\u7642\u6cd5\uff08DBS\uff09<\/strong>\u3068\u3044\u3046\u5916\u79d1\u7684\u306a\u6cbb\u7642\u304c\u884c\u308f\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u8133\u306e\u7279\u5b9a\u306e\u5834\u6240\uff08\u6de1\u84bc\u7403\u5185\u7bc0\uff09\u306b\u96fb\u6975\u3092\u57cb\u3081\u8fbc\u307f\u3001\u96fb\u6c17\u523a\u6fc0\u3092\u9001\u308b\u3053\u3068\u3067\u7570\u5e38\u306a\u52d5\u304d\u3092\u6291\u3048\u308b\u6cbb\u7642\u6cd5\u3067\u3001GNAO1\u95a2\u9023\u306e\u904b\u52d5\u969c\u5bb3\u306b\u5bfe\u3057\u3066\u5927\u304d\u306a\u75c7\u72b6\u6539\u5584\u3092\u793a\u3059\u30b1\u30fc\u30b9\u304c\u4e16\u754c\u5404\u5730\u304b\u3089\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%99%BA%E9%81%94%E6%94%AF%E6%8F%B4%E3%81%A8%E7%99%82%E8%82%B2%EF%BC%88%E3%83%AA%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>\u767a\u9054\u652f\u63f4\u3068\u7642\u80b2\uff08\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u65e9\u671f\u304b\u3089\u306e\u7642\u80b2\u304c\u3001\u304a\u5b50\u3055\u3093\u306e\u6210\u9577\u3068\u751f\u6d3b\u306e\u5b89\u5b9a\u306b\u3068\u3063\u3066\u975e\u5e38\u306b\u91cd\u8981\u3067\u3059\u3002\u7406\u5b66\u7642\u6cd5\uff08PT\uff09\u3067\u306f\u3001\u4f53\u306e\u67d4\u3089\u304b\u3055\uff08\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff09\u3084\u4e0d\u968f\u610f\u904b\u52d5\u306b\u5bfe\u3057\u3066\u30a2\u30d7\u30ed\u30fc\u30c1\u3057\u307e\u3059\u3002\u59ff\u52e2\u3092\u4fdd\u3064\u305f\u3081\u306e\u7df4\u7fd2\u3084\u3001\u95a2\u7bc0\u304c\u786c\u304f\u306a\u3089\u306a\u3044\u3088\u3046\u306a\u30b9\u30c8\u30ec\u30c3\u30c1\u3092\u884c\u3044\u307e\u3059\u3002\u4e0d\u968f\u610f\u904b\u52d5\u304c\u3042\u308b\u5834\u5408\u3001\u624b\u8db3\u304c\u30d9\u30c3\u30c9\u306e\u67f5\u306a\u3069\u306b\u5f53\u305f\u3063\u3066\u602a\u6211\u3092\u3057\u306a\u3044\u3088\u3046\u306b\u3001\u30af\u30c3\u30b7\u30e7\u30f3\u3067\u4fdd\u8b77\u3059\u308b\u306a\u3069\u306e\u74b0\u5883\u8abf\u6574\u3082\u6b20\u304b\u305b\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u5ea7\u4f4d\u4fdd\u6301\u88c5\u7f6e\uff08\u5ea7\u308b\u305f\u3081\u306e\u6905\u5b50\uff09\u3084\u8eca\u6905\u5b50\u3001\u30d0\u30ae\u30fc\u306a\u3069\u3092\u4f5c\u308b\u969b\u3082\u3001\u4e0d\u968f\u610f\u904b\u52d5\u304c\u3042\u3063\u3066\u3082\u5b89\u5168\u306b\u4e57\u308c\u308b\u3088\u3046\u306a\u5de5\u592b\u3092\u5c02\u9580\u5bb6\u3068\u76f8\u8ac7\u3057\u307e\u3059\u3002\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09\u3067\u306f\u3001\u624b\u5148\u306e\u611f\u899a\u3092\u990a\u3063\u305f\u308a\u3001\u904a\u3073\u3092\u901a\u3058\u3066\u5916\u754c\u3078\u306e\u8208\u5473\u3092\u5f15\u304d\u51fa\u3057\u305f\u308a\u3057\u307e\u3059\u3002\u98df\u4e8b\u3084\u7740\u66ff\u3048\u306e\u4ecb\u52a9\u65b9\u6cd5\u306a\u3069\u3001\u65e5\u5e38\u751f\u6d3b\u3092\u30b9\u30e0\u30fc\u30ba\u306b\u3059\u308b\u305f\u3081\u306e\u5de5\u592b\u3082\u5b66\u3073\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09\u3067\u306f\u3001\u8a00\u8449\u306e\u7406\u89e3\u3092\u4fc3\u3059\u3060\u3051\u3067\u306a\u304f\u3001\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u306e\u65b9\u6cd5\uff08\u7d75\u30ab\u30fc\u30c9\u3001\u30b8\u30a7\u30b9\u30c1\u30e3\u30fc\u3001\u30b9\u30a4\u30c3\u30c1\u306a\u3069\uff09\u3092\u63a2\u308a\u307e\u3059\u3002\u307e\u305f\u3001\u98df\u3079\u308b\u6a5f\u80fd\uff08\u6442\u98df\u56a5\u4e0b\uff09\u306e\u8a13\u7df4\u3082\u884c\u3044\u307e\u3059\u3002\u98f2\u307f\u8fbc\u307f\u304c\u96e3\u3057\u3044\u5834\u5408\u306f\u3001\u98df\u4e8b\u306e\u5f62\u614b\uff08\u3068\u308d\u307f\u306e\u8abf\u6574\u306a\u3069\uff09\u3084\u4ecb\u52a9\u306e\u59ff\u52e2\u306b\u3064\u3044\u3066\u6307\u5c0e\u3092\u53d7\u3051\u307e\u3059\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%E3%81%AE%E3%82%B1%E3%82%A2\"><\/span><strong>\u65e5\u5e38\u751f\u6d3b\u306e\u30b1\u30a2<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u98f2\u307f\u8fbc\u3080\u529b\u304c\u5f31\u304b\u3063\u305f\u308a\u3001\u4e0d\u968f\u610f\u904b\u52d5\u3067\u98df\u4e8b\u304c\u96e3\u3057\u304b\u3063\u305f\u308a\u3059\u308b\u5834\u5408\u306f\u3001\u9f3b\u304b\u3089\u30c1\u30e5\u30fc\u30d6\u3092\u5165\u308c\u305f\u308a\u3001\u304a\u8179\u306b\u5c0f\u3055\u306a\u7a74\u3092\u958b\u3051\u3066\u76f4\u63a5\u80c3\u306b\u6804\u990a\u3092\u5165\u308c\u308b\u80c3\u308d\u3046\u3092\u4f5c\u3063\u305f\u308a\u3057\u3066\u3001\u5341\u5206\u306a\u6804\u990a\u3092\u78ba\u4fdd\u3057\u307e\u3059\u3002\u80c3\u308d\u3046\u306f\u3001\u8aa4\u56a5\u306e\u30ea\u30b9\u30af\u3092\u6e1b\u3089\u3057\u3001\u5b89\u5b9a\u3057\u305f\u6804\u990a\u6442\u53d6\u3092\u53ef\u80fd\u306b\u3059\u308b\u6709\u52b9\u306a\u624b\u6bb5\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u767a\u71b1\u306f\u3066\u3093\u304b\u3093\u767a\u4f5c\u3084\u4e0d\u968f\u610f\u904b\u52d5\u306e\u5897\u60aa\uff08\u91cd\u7a4d\uff09\u306e\u5f15\u304d\u91d1\u306b\u306a\u308a\u3084\u3059\u3044\u305f\u3081\u3001\u611f\u67d3\u75c7\u5bfe\u7b56\u306f\u975e\u5e38\u306b\u91cd\u8981\u3067\u3059\u3002\u624b\u6d17\u3044\u306a\u3069\u306e\u57fa\u672c\u7684\u306a\u5bfe\u7b56\u306b\u52a0\u3048\u3001\u6d41\u884c\u671f\u306b\u306f\u4eba\u6df7\u307f\u3092\u907f\u3051\u308b\u3001\u30a4\u30f3\u30d5\u30eb\u30a8\u30f3\u30b6\u306a\u3069\u306e\u4e88\u9632\u63a5\u7a2e\u3092\u8a08\u753b\u7684\u306b\u53d7\u3051\u308b\u306a\u3069\u306e\u5bfe\u7b56\u3092\u5fc3\u304c\u3051\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"7_%E3%81%A9%E3%82%8C%E3%81%8F%E3%82%89%E3%81%84%E3%81%AE%E6%82%A3%E8%80%85%E3%81%95%E3%82%93%E3%81%8C%E3%81%84%E3%82%8B%E3%81%AE%E3%81%8B\"><\/span><strong>7. \u3069\u308c\u304f\u3089\u3044\u306e\u60a3\u8005\u3055\u3093\u304c\u3044\u308b\u306e\u304b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>DEE17\u3092\u542b\u3080GNAO1\u95a2\u9023\u969c\u5bb3\u306f\u3001\u4e16\u754c\u7684\u306b\u898b\u3066\u3082\u5831\u544a\u6570\u304c\u6570\u767e\u4eba\u898f\u6a21\u306b\u3068\u3069\u307e\u308b\u5e0c\u5c11\u75be\u60a3\u3067\u3059\u3002<\/strong>\u6b63\u78ba\u306a\u60a3\u8005\u6570\u306f\u307e\u3060\u308f\u304b\u3063\u3066\u3044\u307e\u305b\u3093\u304c\u3001\u3053\u308c\u307e\u3067\u300c\u539f\u56e0\u4e0d\u660e\u306e\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\u300d\u300c\u539f\u56e0\u4e0d\u660e\u306e\u8133\u6027\u9ebb\u75fa\u69d8\u75c7\u72b6\u300d\u3068\u3055\u308c\u3066\u304d\u305f\u304a\u5b50\u3055\u3093\u306e\u4e2d\u306b\u3001\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b5\u30fc\u306b\u3088\u308b\u7db2\u7f85\u7684\u306a\u907a\u4f1d\u5b50\u691c\u67fb\u306e\u666e\u53ca\u306b\u3088\u3063\u3066\u3001\u65b0\u305f\u306bGNAO1\u95a2\u9023\u969c\u5bb3\u3068\u8a3a\u65ad\u3055\u308c\u308b\u30b1\u30fc\u30b9\u304c\u4e16\u754c\u5404\u5730\u3067\u5897\u3048\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5831\u544a\u6570\u304c\u5c11\u306a\u3044\u3076\u3093\u3001\u9577\u671f\u7684\u306a\u7d4c\u904e\u306b\u95a2\u3059\u308b\u5927\u898f\u6a21\u306a\u30c7\u30fc\u30bf\u306f\u307e\u3060\u84c4\u7a4d\u306e\u9014\u4e0a\u3067\u3059\u3002\u5b9a\u671f\u7684\u306a\u901a\u9662\u3067\u3001\u305d\u306e\u6642\u3005\u306e\u72b6\u614b\u306b\u5408\u308f\u305b\u305f\u652f\u63f4\u3092\u7d9a\u3051\u308b\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"8_%E4%BB%96%E3%81%AE%E9%81%BA%E4%BC%9D%E6%80%A7%E3%81%A6%E3%82%93%E3%81%8B%E3%82%93%E6%80%A7%E8%84%B3%E7%97%87%E3%81%A8%E3%81%AE%E9%96%A2%E4%BF%82\"><\/span><strong>8. \u4ed6\u306e\u907a\u4f1d\u6027\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\u3068\u306e\u95a2\u4fc2<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u767a\u9054\u6027\u304a\u3088\u3073\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\uff08DEE\uff09\u306f\u3001GNAO1\u4ee5\u5916\u306b\u3082100\u7a2e\u985e\u3092\u8d85\u3048\u308b\u539f\u56e0\u907a\u4f1d\u5b50\u304c\u77e5\u3089\u308c\u3066\u3044\u308b\u3001\u5927\u304d\u306a\u75be\u60a3\u30b0\u30eb\u30fc\u30d7\u306e\u7dcf\u79f0\u3067\u3059\u3002<\/strong>\u300c17\u578b\u300d\u3068\u3044\u3046\u756a\u53f7\u306f\u3001\u3042\u304f\u307e\u3067\u539f\u56e0\u907a\u4f1d\u5b50\u3054\u3068\u306b\u5272\u308a\u632f\u3089\u308c\u305f\u5206\u985e\u756a\u53f7\u306b\u3059\u304e\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u6bd4\u8f03\u7684\u3088\u304f\u77e5\u3089\u308c\u3066\u3044\u308b\u539f\u56e0\u907a\u4f1d\u5b50\u306b\u306f\u3001\u4e73\u5150\u671f\u306e\u96e3\u6cbb\u3066\u3093\u304b\u3093\u306e\u539f\u56e0\u3068\u3057\u3066\u983b\u5ea6\u306e\u9ad8\u3044STXBP1\u3084\u3001\u65b0\u751f\u5150\u671f\u304b\u3089\u306e\u767a\u4f5c\u3067\u77e5\u3089\u308c\u308bKCNQ2\u306a\u3069\u304c\u3042\u308a\u307e\u3059\u3002\u539f\u56e0\u907a\u4f1d\u5b50\u304c\u7570\u306a\u308c\u3070\u3001\u767a\u4f5c\u306e\u30bf\u30a4\u30d7\u3084\u767a\u9054\u306e\u7d4c\u904e\u3001\u6709\u52b9\u306a\u85ac\u306e\u50be\u5411\u3082\u7570\u306a\u308a\u307e\u3059\u3002\u540c\u3058\u300c\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\u300d\u3068\u3044\u3046\u8a3a\u65ad\u540d\u3067\u3082\u3001\u539f\u56e0\u907a\u4f1d\u5b50\u306b\u3088\u3063\u3066\u898b\u901a\u3057\u304c\u5909\u308f\u3063\u3066\u304f\u308b\u3001\u3068\u3044\u3046\u70b9\u306f\u77e5\u3063\u3066\u304a\u3044\u3066\u3044\u305f\u3060\u304d\u305f\u3044\u30dd\u30a4\u30f3\u30c8\u3067\u3059\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/developmental-epileptic-encephalopathy-4-stxbp1-guide\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u767a\u9054\u6027\u304a\u3088\u3073\u3066\u3093\u304b\u3093\u6027\u8133\u75c74\u578b\uff08Developmental and epileptic encephalopathy 4\uff09 <\/div>\n          <div class=\"blog-card-excerpt\">\u767a\u9054\u6027\u304a\u3088\u3073\u3066\u3093\u304b\u3093\u6027\u8133\u75c74\u578b\uff08DEE4\uff09\u3068\u8a3a\u65ad\u3055\u308c\u305f\u3054\u5bb6\u65cf\u3078\u3002STXBP1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308b\u65b0\u751f\u5150\u671f\u306e\u3066\u3093\u304b\u3093\u767a\u4f5c\u3001\u91cd\u5ea6\u306e\u767a\u9054\u9045\u6ede\u3001\u904b\u52d5\u969c...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n    <a href=\"\/nipt\/developmental-epileptic-encephalopathy-7-kcnq2-guide\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u767a\u9054\u6027\u304a\u3088\u3073\u3066\u3093\u304b\u3093\u6027\u8133\u75c77\u578b\uff08Developmental and epileptic encephalopathy 7\uff09 <\/div>\n          <div class=\"blog-card-excerpt\">\u767a\u9054\u6027\u304a\u3088\u3073\u3066\u3093\u304b\u3093\u6027\u8133\u75c77\u578b\uff08DEE7\uff09\u3068\u8a3a\u65ad\u3055\u308c\u305f\u3054\u5bb6\u65cf\u3078\u3002KCNQ2\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308b\u65b0\u751f\u5150\u671f\u304b\u3089\u306e\u3066\u3093\u304b\u3093\u767a\u4f5c\u3001\u91cd\u5ea6\u306e\u767a\u9054\u9045\u6ede\u3001\u30ca\u30c8...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"9_%E5%A6%8A%E5%A8%A0%E4%B8%AD%E3%81%AENIPT%E3%81%A8%E3%81%AE%E9%96%A2%E4%BF%82\"><\/span><strong>9. \u598a\u5a20\u4e2d\u306eNIPT\u3068\u306e\u95a2\u4fc2<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>NIPT\u3067\u8abf\u3079\u308b21\u30fb18\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/patau-syndrome\/\">13\u30c8\u30ea\u30bd\u30df\u30fc<\/a>\u306a\u3069\u306e\u57fa\u672c\u691c\u67fb\u306f\u3001GNAO1\u306e\u3088\u3046\u306a\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u3092\u5bfe\u8c61\u3068\u3057\u3066\u3044\u307e\u305b\u3093\u3002<\/strong>\u4e00\u65b9\u3001\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u307e\u3067\u691c\u67fb\u5bfe\u8c61\u3092\u5e83\u3052\u305f\u30d7\u30e9\u30f3\u3067\u306f\u3001GNAO1\u3092\u542b\u3080200\u7a2e\u985e\u4ee5\u4e0a\u306e\u75be\u60a3\u3092\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u5bfe\u8c61\u306b\u7d44\u307f\u8fbc\u3093\u3067\u3044\u308b\u691c\u67fb\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5f53\u9662\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipty-mono\/\">\u300cNIPTy-MONO\uff08\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u691c\u67fb\uff09\u300d<\/a>\u3082\u3001GNAO1\u3092\u5bfe\u8c61\u75be\u60a3\u306b\u542b\u3080\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u30d1\u30cd\u30eb\u306e\u4e00\u3064\u3067\u3059\u3002\u305f\u3060\u3057\u3001\u3053\u308c\u306f\u3042\u304f\u307e\u3067\u975e\u78ba\u5b9a\u7684\u306a\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u691c\u67fb\u3067\u3042\u308a\u3001\u78ba\u5b9a\u8a3a\u65ad\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u967d\u6027\u306e\u6240\u898b\u304c\u51fa\u305f\u5834\u5408\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u306a\u3069\u306e\u78ba\u5b9a\u691c\u67fb\u3067\u78ba\u8a8d\u3059\u308b\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u3002\u3059\u3067\u306b\u304a\u5b50\u3055\u3093\u306eGNAO1\u5909\u7570\u304c\u7279\u5b9a\u3055\u308c\u3066\u3044\u308b\u3054\u5bb6\u65cf\u304c\u6b21\u306e\u598a\u5a20\u306b\u5099\u3048\u308b\u5834\u5408\u306f\u3001\u524d\u7ae0\u3067\u8ff0\u3079\u305f\u3068\u304a\u308a\u3001\u305d\u306e\u7279\u5b9a\u306e\u5909\u7570\u3092\u76f4\u63a5\u8abf\u3079\u308b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chorionic-villus-test\/\">\u7d68\u6bdb\u691c\u67fb<\/a>\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u306b\u3088\u308b\u78ba\u5b9a\u691c\u67fb\u304c\u57fa\u672c\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/nipty-mono\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">NIPTy-MONO(\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3) <\/div>\n          <div class=\"blog-card-excerpt\">...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<p>\u4eca\u56de\u3001\u3053\u306e\u75be\u60a3\u306b\u3064\u3044\u3066\u56fd\u5185\u306e\u5b9f\u4f53\u9a13\u306b\u57fa\u3065\u304f\u6295\u7a3f\u3092X\uff08\u65e7Twitter\uff09\u3067\u63a2\u3057\u307e\u3057\u305f\u304c\u3001\u76f4\u8fd1\u306e\u6295\u7a3f\u3067\u306f\u898b\u5f53\u305f\u308a\u307e\u305b\u3093\u3067\u3057\u305f\u3002\u4e16\u754c\u7684\u306b\u3082\u5831\u544a\u6570\u306e\u5c11\u306a\u3044\u5e0c\u5c11\u75be\u60a3\u3067\u3042\u308b\u305f\u3081\u3001\u4e00\u6b21\u60c5\u5831\u304c\u4e4f\u3057\u3044\u306e\u306f\u81ea\u7136\u306a\u3053\u3068\u3067\u3059\u3002\u672c\u8a18\u4e8b\u3067\u306f\u4ee3\u308f\u308a\u306b\u3001\u7c73\u56fd\u56fd\u7acb\u533b\u5b66\u56f3\u66f8\u9928\u306eGeneReviews\u30fbGARD\uff08\u5e0c\u5c11\u75be\u60a3\u60c5\u5831\u30bb\u30f3\u30bf\u30fc\uff09\u3001\u304a\u3088\u3073\u56fd\u5185\u5b66\u4f1a\u8a8c\u306e\u75c7\u4f8b\u5831\u544a\u3092\u6839\u62e0\u3068\u3057\u3066\u3044\u307e\u3059\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\/plan-finder\/\" target=\"_blank\" rel=\"noopener\">\u30d7\u30e9\u30f3\u8a3a\u65ad\u3067\u81ea\u5206\u306b\u5408\u3046\u691c\u67fb\u3092\u63a2\u3059<\/a><\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"10_%E3%81%94%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\"><\/span><strong>10. \u3054\u5bb6\u65cf\u3078\u306e\u30e1\u30c3\u30bb\u30fc\u30b8<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u300c\u8133\u75c7\u300d\u300c17\u578b\u300d\u3068\u3044\u3046\u8a00\u8449\u306e\u91cd\u3055\u306b\u3001\u5fc5\u8981\u4ee5\u4e0a\u306b\u62bc\u3057\u3064\u3076\u3055\u308c\u308b\u5fc5\u8981\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/strong>\u3053\u306e\u756a\u53f7\u306f\u91cd\u75c7\u5ea6\u3092\u793a\u3059\u3082\u306e\u3067\u306f\u306a\u304f\u3001\u539f\u56e0\u907a\u4f1d\u5b50\u3092\u533a\u5225\u3059\u308b\u305f\u3081\u306e\u6574\u7406\u756a\u53f7\u306b\u3059\u304e\u306a\u3044\u304b\u3089\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u9577\u671f\u306b\u308f\u305f\u308b\u7642\u80b2\u3084\u901a\u9662\u3001\u6642\u306b\u306f\u96c6\u4e2d\u6cbb\u7642\u304c\u5fc5\u8981\u306b\u306a\u308b\u5834\u9762\u3082\u3042\u308a\u3001\u3054\u5bb6\u65cf\u306e\u8ca0\u62c5\u304c\u5927\u304d\u304f\u306a\u308b\u3053\u3068\u3082\u3042\u308b\u3067\u3057\u3087\u3046\u3002\u533b\u7642\u30c1\u30fc\u30e0\u3084\u5730\u57df\u306e\u30b5\u30dd\u30fc\u30c8\u56e3\u4f53\u3001\u540c\u3058\u75be\u60a3\u306e\u3054\u5bb6\u65cf\u540c\u58eb\u306e\u3064\u306a\u304c\u308a\u3092\u983c\u308a\u306a\u304c\u3089\u3001\u7121\u7406\u306e\u306a\u3044\u7bc4\u56f2\u3067\u4ed8\u304d\u5408\u3063\u3066\u3044\u304f\u4f53\u5236\u3092\u6574\u3048\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<p>\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u73fe\u5834\u3067\u306f\u3001\u300c\u4e21\u89aa\u306e\u691c\u67fb\u304c\u6b63\u5e38\u3067\u3082\u5b50\u306b\u4f1d\u308f\u308b\u3053\u3068\u304c\u3042\u308b\u306e\u304b\u300d\u3068\u3044\u3046\u3054\u76f8\u8ac7\u3092\u6570\u591a\u304f\u304a\u805e\u304d\u3057\u307e\u3059\u3002\u751f\u6b96\u7d30\u80de<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mosaicism\/\">\u30e2\u30b6\u30a4\u30af<\/a>\u306e\u3088\u3046\u306b\u3001\u8840\u6db2\u691c\u67fb\u3060\u3051\u3067\u306f\u5206\u304b\u3089\u306a\u3044\u4e8b\u60c5\u3082\u3042\u308b\u3068\u3044\u3046\u306e\u304c\u5b9f\u611f\u3067\u3059\u3002\u3072\u3068\u308a\u3067\u62b1\u3048\u8fbc\u307e\u305a\u3001\u5c02\u9580\u5bb6\u306b\u76f8\u8ac7\u3057\u3066\u307f\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/nipt-intellectual-disability-statistics-probability\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u6570\u5b57\u3067\u898b\u308bNIPT\u3002\u77e5\u7684\u969c\u5bb3\u306e\u78ba\u7387\u30fb\u7684\u4e2d\u7387\u30fb\u9650\u754c <\/div>\n          <div class=\"blog-card-excerpt\">NIPT\u3067\u77e5\u7684\u969c\u5bb3\u304c\u5224\u660e\u3059\u308b\u78ba\u7387\u306f\u3069\u306e\u304f\u3089\u3044\u304b\uff1f35\u6b73\u300140\u6b73\u3068\u3044\u3063\u305f\u5e74\u9f62\u5225\u306e\u67d3\u8272\u4f53\u75be\u60a3\u767a\u751f\u7387\u3001\u691c\u67fb\u306e\u300c\u967d\u6027\u7684\u4e2d\u7387\u300d\u306e\u30ab\u30e9\u30af\u30ea\u3001\u305d\u3057\u3066\u77e5\u7684\u969c...<\/div>\n      <\/div>\n    <\/a>\n\n\n\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>\u767a\u9054\u6027\u304a\u3088\u3073\u3066\u3093\u304b\u3093\u6027\u8133\u75c717\u578b\uff08DEE17\uff09\u306b\u3064\u3044\u3066\u306e\u91cd\u8981\u306a\u30dd\u30a4\u30f3\u30c8\u3092\u632f\u308a\u8fd4\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u75c5\u6c17\u306e\u672c\u8cea\uff1aGNAO1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308a\u3001\u795e\u7d4c\u7d30\u80de\u306e\u4fe1\u53f7\u4f1d\u9054\u306b\u7570\u5e38\u304c\u751f\u3058\u3001\u8133\u306e\u6a5f\u80fd\u3084\u904b\u52d5\u5236\u5fa1\u306b\u5f71\u97ff\u304c\u51fa\u308b\u5148\u5929\u6027\u306e\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u4e3b\u306a\u7279\u5fb4\uff1a\u4e73\u5150\u671f\u306e\u96e3\u6cbb\u6027\u3066\u3093\u304b\u3093\u3001\u91cd\u5ea6\u306e\u767a\u9054\u9045\u6ede\u3001\u305d\u3057\u3066\u30b8\u30b9\u30ad\u30cd\u30b8\u30a2\u306a\u3069\u306e\u7279\u5fb4\u7684\u306a\u4e0d\u968f\u610f\u904b\u52d5\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6cbb\u7642\u306e\u9375\uff1a\u3066\u3093\u304b\u3093\u306e\u6cbb\u7642\u306b\u52a0\u3048\u3001\u4e0d\u968f\u610f\u904b\u52d5\u306e\u7ba1\u7406\u304c\u975e\u5e38\u306b\u91cd\u8981\u3067\u3059\u3002\u91cd\u75c7\u306e\u5834\u5408\u306f\u8133\u6df1\u90e8\u523a\u6fc0\u7642\u6cd5\uff08DBS\uff09\u306a\u3069\u306e\u9078\u629e\u80a2\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u539f\u56e0\uff1a\u591a\u304f\u306f\u7a81\u7136\u5909\u7570\uff08de novo\u5909\u7570\uff09\u306b\u3088\u308b\u3082\u306e\u3067\u3001\u89aa\u306e\u305b\u3044\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u3054\u304f\u307e\u308c\u306b\u751f\u6b96\u7d30\u80de<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mosaicism\/\">\u30e2\u30b6\u30a4\u30af<\/a>\u306b\u3088\u308b\u518d\u767a\u304c\u3042\u308b\u305f\u3081\u3001\u6b21\u306e\u304a\u5b50\u69d8\u306b\u3064\u3044\u3066\u306f\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u78ba\u8a8d\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<p>\u30b1\u30a2\u306e\u8981\u70b9\u3002\u767a\u4f5c\u306e\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3001\u4e0d\u968f\u610f\u904b\u52d5\u3078\u306e\u5bfe\u7b56\u3001\u6804\u990a\u7ba1\u7406\u3001\u611f\u67d3\u75c7\u4e88\u9632\u306a\u3069\u3001\u5168\u8eab\u3092\u30c8\u30fc\u30bf\u30eb\u3067\u30b1\u30a2\u3059\u308b\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n\n<div class=\"wp-block-buttons is-content-justification-center is-layout-flex wp-container-core-buttons-is-layout-16018d1d wp-block-buttons-is-layout-flex\">\n<div class=\"wp-block-button\"><a class=\"wp-block-button__link wp-element-button\" href=\"https:\/\/mypage-nipt-reservation.hiro-clinic.or.jp\/registration\" target=\"_blank\" rel=\"noopener\">NIPT\u306e\u4e88\u7d04\u306f\u3053\u3061\u3089<\/a><\/div>\n\n\n\n<div class=\"wp-block-button is-style-outline is-style-outline--1\"><a class=\"wp-block-button__link wp-element-button\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/line-registration\/\" target=\"_blank\" rel=\"noopener\">LINE\u3067\u7121\u6599\u76f8\u8ac7\u3059\u308b<\/a><\/div>\n<\/div>\n\n\n\n<p>\u304a\u96fb\u8a71\u3067\u306e\u3054\u76f8\u8ac7\u3082\u53d7\u3051\u4ed8\u3051\u3066\u3044\u307e\u3059\u3002<a href=\"tel:0120169629\">0120-169-629<\/a>\u307e\u3067\u304a\u6c17\u8efd\u306b\u304a\u554f\u3044\u5408\u308f\u305b\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%82%88%E3%81%8F%E3%81%82%E3%82%8B%E8%B3%AA%E5%95%8F\"><\/span><strong>\u3088\u304f\u3042\u308b\u8cea\u554f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"DEE17%E3%81%A8GNAO1%E9%96%A2%E9%80%A3%E9%9A%9C%E5%AE%B3%EF%BC%88NEDIM%EF%BC%89%E3%81%AF%E5%90%8C%E3%81%98%E7%97%85%E6%B0%97%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\"><\/span>DEE17\u3068GNAO1\u95a2\u9023\u969c\u5bb3\uff08NEDIM\uff09\u306f\u540c\u3058\u75c5\u6c17\u3067\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u540c\u3058GNAO1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u304b\u3089\u751f\u3058\u307e\u3059\u304c\u3001\u75c7\u72b6\u306e\u4e2d\u5fc3\u304c\u7570\u306a\u308a\u307e\u3059\u3002DEE17\u306f\u4e73\u5150\u671f\u304b\u3089\u306e\u3066\u3093\u304b\u3093\u767a\u4f5c\u3068\u767a\u9054\u306e\u9045\u308c\u304c\u4e3b\u4f53\u3067\u3001\u6a5f\u80fd\u55aa\u5931\u578b\u306e\u5909\u7570\u304c\u591a\u3044\u50be\u5411\u306b\u3042\u308a\u307e\u3059\u3002\u4e00\u65b9\u3001GNAO1\u95a2\u9023\u969c\u5bb3\uff08NEDIM\uff09\u306f\u4e0d\u968f\u610f\u904b\u52d5\u304c\u4e3b\u4f53\u3067\u3001\u3066\u3093\u304b\u3093\u304c\u8efd\u3044\u304b\u898b\u3089\u308c\u306a\u3044\u3053\u3068\u304c\u591a\u304f\u3001\u6a5f\u80fd\u7372\u5f97\u578b\u306e\u5909\u7570\u304c\u591a\u3044\u50be\u5411\u306b\u3042\u308a\u307e\u3059\u3002\u4e21\u65b9\u306e\u7279\u5fb4\u3092\u4f75\u305b\u6301\u3064\u304a\u5b50\u3055\u3093\u3082\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%B8%BB%E3%81%AA%E7%97%87%E7%8A%B6%E3%81%AF%E4%BD%95%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u4e3b\u306a\u75c7\u72b6\u306f\u4f55\u3067\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u4e73\u5150\u671f\u65e9\u671f\u304b\u3089\u59cb\u307e\u308b\u96e3\u6cbb\u6027\u306e\u3066\u3093\u304b\u3093\u767a\u4f5c\u3001\u91cd\u5ea6\u306e\u767a\u9054\u306e\u9045\u308c\u3001\u305d\u3057\u3066\u30b8\u30b9\u30ad\u30cd\u30b8\u30a2\u3084\u30b8\u30b9\u30c8\u30cb\u30a2\u3068\u3044\u3063\u305f\u4e0d\u968f\u610f\u904b\u52d5\u304c\u4ee3\u8868\u7684\u306a\u75c7\u72b6\u3067\u3059\u3002\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3084\u54fa\u4e73\u969c\u5bb3\u3092\u4f34\u3046\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%A6%AA%E3%81%8B%E3%82%89%E9%81%BA%E4%BC%9D%E3%81%99%E3%82%8B%E3%81%AE%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u89aa\u304b\u3089\u907a\u4f1d\u3059\u308b\u306e\u3067\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>DEE17\u306e\u307b\u3068\u3093\u3069\u306f\u3001\u3054\u4e21\u89aa\u306e\u3069\u3061\u3089\u306b\u3082\u539f\u56e0\u304c\u306a\u3044\u7a81\u7136\u5909\u7570\uff08de novo\u5909\u7570\uff09\u306b\u3088\u308b\u3082\u306e\u3067\u3059\u3002\u598a\u5a20\u4e2d\u306e\u751f\u6d3b\u304c\u539f\u56e0\u306b\u306a\u308b\u3053\u3068\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u3054\u304f\u307e\u308c\u306b\u3001\u4e21\u89aa\u306e\u8840\u6db2\u691c\u67fb\u3067\u5909\u7570\u304c\u691c\u51fa\u3055\u308c\u306a\u304f\u3066\u3082\u3001\u751f\u6b96\u7d30\u80de<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mosaicism\/\">\u30e2\u30b6\u30a4\u30af<\/a>\u306b\u3088\u308a\u304d\u3087\u3046\u3060\u3044\u306b\u518d\u767a\u3057\u305f\u4f8b\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u6b21\u306e\u304a\u5b50\u69d8\u3078\u306e\u5f71\u97ff\u306f\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u78ba\u8a8d\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E6%B2%BB%E7%99%82%E6%B3%95%E3%81%8C%E3%81%82%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u3069\u306e\u3088\u3046\u306a\u6cbb\u7642\u6cd5\u304c\u3042\u308a\u307e\u3059\u304b\u3002<span 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/patau-syndrome\/\">13\u30c8\u30ea\u30bd\u30df\u30fc<\/a>\u306a\u3069\u306e\u57fa\u672c\u691c\u67fb\u306e\u5bfe\u8c61\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u307e\u3067\u5bfe\u8c61\u3092\u5e83\u3052\u305fNIPTy-MONO\u306e\u3088\u3046\u306a\u30d7\u30e9\u30f3\u3067\u306f\u3001GNAO1\u3092\u542b\u3080200\u7a2e\u985e\u4ee5\u4e0a\u306e\u75be\u60a3\u3092\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u5bfe\u8c61\u3068\u3057\u3066\u3044\u307e\u3059\u304c\u3001\u975e\u78ba\u5b9a\u7684\u306a\u691c\u67fb\u3067\u3042\u308a\u3001\u967d\u6027\u6240\u898b\u304c\u51fa\u305f\u5834\u5408\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u306a\u3069\u306e\u78ba\u5b9a\u691c\u67fb\u304c\u5fc5\u8981\u3067\u3059\u3002\u3059\u3067\u306b\u5bb6\u65cf\u5185\u3067GNAO1\u5909\u7570\u304c\u5224\u660e\u3057\u3066\u3044\u308b\u5834\u5408\u306f\u3001\u305d\u306e\u5909\u7570\u3092\u76f4\u63a5\u8abf\u3079\u308b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chorionic-villus-test\/\">\u7d68\u6bdb\u691c\u67fb<\/a>\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u304c\u57fa\u672c\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"DEE17%E3%81%AF%E6%8C%87%E5%AE%9A%E9%9B%A3%E7%97%85%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\"><\/span>DEE17\u306f\u6307\u5b9a\u96e3\u75c5\u3067\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>2026\u5e74\u73fe\u5728\u3001DEE17\u3084GNAO1\u95a2\u9023\u969c\u5bb3\u306f\u3001\u5358\u72ec\u306e\u75c5\u540d\u3068\u3057\u3066\u56fd\u5185\u306e\u6307\u5b9a\u96e3\u75c5\u30ea\u30b9\u30c8\u306b\u306f\u542b\u307e\u308c\u3066\u3044\u307e\u305b\u3093\u3002\u533b\u7642\u8cbb\u52a9\u6210\u3084\u7642\u80b2\u652f\u63f4\u306e\u5236\u5ea6\u306b\u3064\u3044\u3066\u306f\u3001\u4e3b\u6cbb\u533b\u3084\u304a\u4f4f\u307e\u3044\u306e\u81ea\u6cbb\u4f53\u306e\u7a93\u53e3\u306b\u78ba\u8a8d\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<p style=\"font-size:0.9em;color:#555;\"><strong>\u76e3\u4fee\uff1a\u5ca1 \u535a\u53f2\uff08\u304a\u304b \u3072\u308d\u3057\uff09<\/strong>\uff0f\u533b\u7642\u6cd5\u4eba\u793e\u56e3\u798f\u7f8e\u4f1a \u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u7d71\u62ec\u9662\u9577\u30fbLabo 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rel=\"noopener\">Developmental and epileptic encephalopathy 17\uff5cGARD \u5e0c\u5c11\u75be\u60a3\u60c5\u5831\u30bb\u30f3\u30bf\u30fc\uff08\u7c73\u56fd\u56fd\u7acb\u885b\u751f\u7814\u7a76\u6240\uff09<\/a>\uff0f<a href=\"https:\/\/www.jstage.jst.go.jp\/article\/jtwmu\/92\/2\/92_62\/_article\/-char\/ja\" target=\"_blank\" rel=\"noopener\">\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u30b7\u30fc\u30b1\u30f3\u30b9\u306b\u3088\u308a\u78ba\u5b9a\u8a3a\u65ad\u306b\u81f3\u3063\u305fGNAO1\u7570\u5e38\u75c7\u306e1\u4f8b\uff5c\u6771\u4eac\u5973\u5b50\u533b\u79d1\u5927\u5b66\u96d1\u8a8c\uff08J-STAGE\uff09<\/a>\uff0f<a href=\"https:\/\/www.mhlw.go.jp\/stf\/newpage_53881.html\" target=\"_blank\" rel=\"noopener\">\u6307\u5b9a\u96e3\u75c5\u4e00\u89a7\uff5c\u539a\u751f\u52b4\u50cd\u7701<\/a><\/p>\n\n\n<!--nipt_mono-->\r\n<div class=\"nipt-mono\">\r\n    <div class=\"nipt-mono-btn\">\r\n        <a href=\"\/nipt\/nipt-mono\/\">\r\n            <img decoding=\"async\" loading=\"lazy\" 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-17-gnao1-guide\/\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":151,"featured_media":123238,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[1392],"tags":[],"class_list":["post-123237","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-1392"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/123237","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\/151"}],"replies":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/comments?post=123237"}],"version-history":[{"count":3,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/123237\/revisions"}],"predecessor-version":[{"id":134228,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/123237\/revisions\/134228"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/123238"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=123237"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=123237"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=123237"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}