{"id":123244,"date":"2026-01-16T11:55:33","date_gmt":"2026-01-16T02:55:33","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=123244"},"modified":"2026-07-27T06:21:25","modified_gmt":"2026-07-26T21:21:25","slug":"developmental-epileptic-encephalopathy-19-gabra1-guide","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-19-gabra1-guide\/","title":{"rendered":"\u767a\u9054\u6027\u304a\u3088\u3073\u3066\u3093\u304b\u3093\u6027\u8133\u75c719\u578b\uff08Developmental and epileptic encephalopathy 19\uff09"},"content":{"rendered":"\n<p><strong>\u767a\u9054\u6027\u304a\u3088\u3073\u3066\u3093\u304b\u3093\u6027\u8133\u75c719\u578b\uff08DEE19\uff09\u306f\u3001GABRA1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u4e73\u5150\u671f\u306b\u3066\u3093\u304b\u3093\u767a\u4f5c\u3068\u767a\u9054\u306e\u9045\u308c\u304c\u540c\u6642\u306b\u73fe\u308c\u308b\u3001\u975e\u5e38\u306b\u5e0c\u5c11\u306a\u5148\u5929\u6027\u75be\u60a3\u3067\u3059\u3002<\/strong>\u89aa\u304b\u3089\u907a\u4f1d\u3057\u305f\u308f\u3051\u3067\u306f\u306a\u304f\u3001\u591a\u304f\u306f\u5076\u7136\u306e\u7a81\u7136\u5909\u7570\u304c\u539f\u56e0\u3067\u3042\u308a\u3001\u65e9\u671f\u306e\u8a3a\u65ad\u304c\u304a\u5b50\u3055\u3093\u306b\u5408\u3063\u305f\u6cbb\u7642\u3068\u30b1\u30a2\u306e\u571f\u53f0\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u533b\u5e2b\u304b\u3089Developmental and epileptic encephalopathy 19\u3068\u3044\u3046\u3001\u9577\u304f\u805e\u304d\u6163\u308c\u306a\u3044\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\u3078\u306e\u5e0c\u5c11\u75be\u60a3\u306e\u8a3a\u65ad\u306f\u3001\u8a08\u308a\u77e5\u308c\u306a\u3044\u30b7\u30e7\u30c3\u30af\u3068\u4e0d\u5b89\u3092\u4f34\u3046\u3082\u306e\u3067\u3059\u3002\u3053\u306e\u75c5\u6c17\u306f\u4e16\u754c\u7684\u306b\u3082\u5831\u544a\u4f8b\u304c\u5c11\u306a\u304f\u3001\u65e5\u672c\u8a9e\u306e\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\u3066\u3093\u304b\u3093\u3084\u907a\u4f1d\u306e\u5c02\u9580\u5bb6\u3067\u306a\u3051\u308c\u3070\u3001\u8a73\u3057\u304f\u77e5\u3089\u306a\u3044\u3053\u3068\u3082\u73cd\u3057\u304f\u306a\u3044\u75be\u60a3\u6982\u5ff5\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>\u3053\u306e\u8a18\u4e8b\u3067\u308f\u304b\u308b\u3053\u3068<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>DEE19\u3068\u3044\u3046\u75c5\u540d\u3068<strong>GABRA1\u907a\u4f1d\u5b50<\/strong>\u306e\u95a2\u4fc2\u300119\u578b\u3068\u3044\u3046\u756a\u53f7\u306e\u610f\u5473<\/li>\n<li>\u3066\u3093\u304b\u3093\u767a\u4f5c\u30fb\u767a\u9054\u306e\u9045\u308c\u306a\u3069\u3001DEE19\u3067\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u4e3b\u306a\u75c7\u72b6<\/li>\n<li>GABRA5\uff08DEE79\uff09\u306a\u3069\u3001\u4f3c\u305f\u540d\u524d\u306e\u75be\u60a3\u3068\u306e\u9055\u3044<\/li>\n<li>\u8a3a\u65ad\u306e\u6d41\u308c\u3068\u3001\u73fe\u6642\u70b9\u3067\u306e\u6cbb\u7642\u30fb\u7642\u80b2\u306e\u8003\u3048\u65b9<\/li>\n<li>\u3054\u5bb6\u65cf\u304c\u76f8\u8ac7\u3067\u304d\u308b\u7a93\u53e3\u3068\u3001\u6b21\u306e\u598a\u5a20\u306bNIPT\u3092\u691c\u8a0e\u3059\u308b\u969b\u306e\u8003\u3048\u65b9<\/li>\n<\/ul>\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\u75c719\u578b\u3068\u306a\u308a\u307e\u3059\u3002\u533b\u7642\u73fe\u5834\u3067\u306f\u982d\u6587\u5b57\u3092\u3068\u3063\u3066DEE19\uff08\u30c7\u30a3\u30fc\u30fb\u30a4\u30fc\u30fb\u30a4\u30fc\u30fb\u30b8\u30e5\u30a6\u30ad\u30e5\u30a6\uff09\u3068\u547c\u3070\u308c\u308b\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\u3059\u3002\u539f\u56e0\u3068\u306a\u308b\u907a\u4f1d\u5b50\u306e\u540d\u524d\u304b\u3089\u3001<strong>GABRA1\u95a2\u9023\u795e\u7d4c\u767a\u9054\u969c\u5bb3<\/strong>\u3084GABRA1\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>19\u578b\u3068\u3044\u3046\u6570\u5b57\u306f\u3001\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\u3082\u306e\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u539f\u56e0\u304c\u907a\u4f1d\u5b50\u306b\u3042\u308b\u3068\u308f\u304b\u3063\u305f\u3053\u3068\u306f\u3001\u3053\u308c\u304b\u3089\u8d77\u3053\u308a\u3046\u308b\u3053\u3068\u3078\u306e\u5099\u3048\u3092\u7acb\u3066\u3084\u3059\u304f\u3057\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\u3053\u3068\u3067\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n<!--nipt_mono-->\r\n<div 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\u8133\u6ce2\u691c\u67fb<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-13\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-19-gabra1-guide\/#2_%E7%94%BB%E5%83%8F%E6%A4%9C%E6%9F%BB%EF%BC%88MRI%EF%BC%89\" >2. \u753b\u50cf\u691c\u67fb\uff08MRI\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-19-gabra1-guide\/#3_%E9%81%BA%E4%BC%9D%E5%AD%A6%E7%9A%84%E6%A4%9C%E6%9F%BB\" >3. \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-15\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-19-gabra1-guide\/#%E6%B2%BB%E7%99%82%E3%81%A8%E7%AE%A1%E7%90%86%EF%BC%9A%E7%99%BA%E4%BD%9C%E3%81%AE%E3%82%B3%E3%83%B3%E3%83%88%E3%83%AD%E3%83%BC%E3%83%AB%E3%81%A8%E7%99%82%E8%82%B2%E3%81%AE%E4%B8%A1%E7%AB%8B\" >\u6cbb\u7642\u3068\u7ba1\u7406\uff1a\u767a\u4f5c\u306e\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3068\u7642\u80b2\u306e\u4e21\u7acb<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-19-gabra1-guide\/#1_%E3%81%A6%E3%82%93%E3%81%8B%E3%82%93%E3%81%AE%E6%B2%BB%E7%99%82\" >1. \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-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-19-gabra1-guide\/#2_%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\" >2. \u767a\u9054\u652f\u63f4\u3068\u7642\u80b2\uff08\u30ea\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-18\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-19-gabra1-guide\/#3_%E6%97%A5%E5%B8%B8%E7%94%9F%E6%B4%BB%E3%81%AE%E3%82%B1%E3%82%A2\" >3. \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-19\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-19-gabra1-guide\/#%E3%81%94%E5%AE%B6%E6%97%8F%E3%81%B8%E2%80%94%E2%80%94%E7%9B%B8%E8%AB%87%E3%81%A7%E3%81%8D%E3%82%8B%E7%AA%93%E5%8F%A3%E3%81%A8%E6%AC%A1%E3%81%AE%E5%A6%8A%E5%A8%A0%E3%81%A7%E3%81%AENIPT\" >\u3054\u5bb6\u65cf\u3078\u2014\u2014\u76f8\u8ac7\u3067\u304d\u308b\u7a93\u53e3\u3068\u6b21\u306e\u598a\u5a20\u3067\u306eNIPT<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-20\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-19-gabra1-guide\/#%E3%82%88%E3%81%8F%E3%81%82%E3%82%8B%E8%B3%AA%E5%95%8F%EF%BC%88FAQ%EF%BC%89\" >\u3088\u304f\u3042\u308b\u8cea\u554f\uff08FAQ\uff09<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-21\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-19-gabra1-guide\/#Q1_GABRA1%E3%81%A8DEE19%E3%81%AF%E5%90%8C%E3%81%98%E7%97%85%E6%B0%97%E3%81%A7%E3%81%99%E3%81%8B%EF%BC%9F\" >Q1. GABRA1\u3068DEE19\u306f\u540c\u3058\u75c5\u6c17\u3067\u3059\u304b\uff1f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-22\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-19-gabra1-guide\/#Q2_DEE19%E3%81%A8GABRA5%EF%BC%88DEE79%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%EF%BC%9F\" >Q2. DEE19\u3068GABRA5\uff08DEE79\uff09\u306f\u540c\u3058\u75c5\u6c17\u3067\u3059\u304b\uff1f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-23\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-19-gabra1-guide\/#Q3_%E8%8B%A5%E5%B9%B4%E3%83%9F%E3%82%AA%E3%82%AF%E3%83%AD%E3%83%8B%E3%83%BC%E3%81%A6%E3%82%93%E3%81%8B%E3%82%93%E3%81%A8%E3%81%AE%E9%81%95%E3%81%84%E3%81%AF%E4%BD%95%E3%81%A7%E3%81%99%E3%81%8B%EF%BC%9F\" >Q3. \u82e5\u5e74\u30df\u30aa\u30af\u30ed\u30cb\u30fc\u3066\u3093\u304b\u3093\u3068\u306e\u9055\u3044\u306f\u4f55\u3067\u3059\u304b\uff1f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-24\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-19-gabra1-guide\/#Q4_%E6%B2%BB%E7%99%82%E6%B3%95%E3%81%AF%E3%81%82%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\" >Q4. \u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u3059\u304b\uff1f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-25\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-19-gabra1-guide\/#Q5_%E5%85%84%E5%BC%9F%E5%A7%89%E5%A6%B9%E3%81%AB%E5%90%8C%E3%81%98%E7%97%85%E6%B0%97%E3%81%8C%E5%87%BA%E3%82%8B%E5%8F%AF%E8%83%BD%E6%80%A7%E3%81%AF%E3%81%82%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\" >Q5. \u5144\u5f1f\u59c9\u59b9\u306b\u540c\u3058\u75c5\u6c17\u304c\u51fa\u308b\u53ef\u80fd\u6027\u306f\u3042\u308a\u307e\u3059\u304b\uff1f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-26\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-19-gabra1-guide\/#Q6_NIPT%E3%81%A7GABRA1%E3%81%AE%E5%A4%89%E7%95%B0%E3%81%AF%E3%82%8F%E3%81%8B%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\" >Q6. NIPT\u3067GABRA1\u306e\u5909\u7570\u306f\u308f\u304b\u308a\u307e\u3059\u304b\uff1f<\/a><\/li><\/ul><\/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-19-gabra1-guide\/#%E3%81%BE%E3%81%A8%E3%82%81\" >\u307e\u3068\u3081<\/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%9ADEE19%E3%81%A8%E3%81%AF%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\uff1aDEE19\u3068\u306f\u3069\u306e\u3088\u3046\u306a\u75c5\u6c17\u304b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>DEE19\u306f\u3001GABRA1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u8133\u306e\u8208\u596e\u3092\u6291\u3048\u308b\u30d6\u30ec\u30fc\u30ad\u304c\u5f31\u307e\u308a\u3001\u3066\u3093\u304b\u3093\u767a\u4f5c\u3068\u767a\u9054\u306e\u9045\u308c\u304c\u540c\u6642\u306b\u751f\u3058\u308b\u75be\u60a3\u3067\u3059\u3002\u307e\u305a\u3001\u767a\u9054\u6027\u304a\u3088\u3073\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\u3068\u3044\u3046\u75c5\u540d\u30b0\u30eb\u30fc\u30d7\u306e\u610f\u5473\u3092\u7406\u89e3\u3059\u308b\u3053\u3068\u304c\u3001\u75c7\u72b6\u3092\u6b63\u3057\u304f\u6349\u3048\u308b\u9375\u306b\u306a\u308a\u307e\u3059\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\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\u3066\u3093\u304b\u3093\u767a\u4f5c\u304c\u306a\u304f\u3066\u3082\u3001\u767a\u9054\u306b\u8ab2\u984c\u304c\u751f\u3058\u308b\u4f53\u8cea\u3067\u3042\u308b\u3053\u3068\u3092\u793a\u3059\u8a00\u8449\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3066\u3093\u304b\u3093\u6027\u3068\u306f\u3001\u983b\u7e41\u306a\u767a\u4f5c\u3084\u8133\u6ce2\u306e\u6fc0\u3057\u3044\u4e71\u308c\u304c\u3001\u8133\u306e\u6a5f\u80fd\u3084\u767a\u9054\u306b\u3055\u3089\u306a\u308b\u5f71\u97ff\u3092\u4e0e\u3048\u3066\u3044\u308b\u72b6\u614b\u3092\u6307\u3057\u307e\u3059\u3002\u8133\u75c7\u306f\u3001\u8133\u5168\u4f53\u306e\u50cd\u304d\u306b\u5e83\u7bc4\u306a\u5f71\u97ff\u304c\u51fa\u3066\u3044\u308b\u72b6\u614b\u3092\u8868\u3059\u533b\u5b66\u7528\u8a9e\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3064\u307e\u308aDEE19\u306f\u3001\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\u3068\u3044\u3046\u4e8c\u3064\u306e\u8981\u7d20\u304c\u91cd\u306a\u3063\u3066\u75c7\u72b6\u304c\u73fe\u308c\u308b\u75c5\u6c17\u3068\u3044\u3048\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e19\u578b\u306f\u3001GABRA1\uff08\u30ae\u30e3\u30d6\u30e9\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\u304c\u660e\u3089\u304b\u306b\u306a\u3063\u3066\u3044\u307e\u3059\u3002\u907a\u4f1d\u5b50\u3068\u75be\u60a3\u306e\u5bfe\u5fdc\u3092\u8a18\u9332\u3059\u308b\u56fd\u969b\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9OMIM\u3067\u3082\u3001DEE19\u306fGABRA1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308b\u75be\u60a3\u3068\u3057\u3066\u767b\u9332\u3055\u308c\u3066\u3044\u307e\u3059\uff08\u30a8\u30f3\u30c8\u30ea\u30fc\u756a\u53f7#615744\uff09\u3002<\/p>\n\n\n\n<p>GABRA1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306f\u3001DEE19\u306e\u3088\u3046\u306a\u91cd\u3044\u3066\u3093\u304b\u3093\u3060\u3051\u304c\u539f\u56e0\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<strong>\u82e5\u5e74\u30df\u30aa\u30af\u30ed\u30cb\u30fc\u3066\u3093\u304b\u3093<\/strong>\u3084\u5c0f\u5150\u6b20\u795e\u3066\u3093\u304b\u3093\u3068\u3044\u3063\u305f\u3001\u6bd4\u8f03\u7684\u8efd\u304f\u77e5\u7684\u306a\u9045\u308c\u3092\u4f34\u308f\u306a\u3044\u3066\u3093\u304b\u3093\u306e\u539f\u56e0\u306b\u306a\u308b\u3053\u3068\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002DEE19\u3068\u3044\u3046\u8a3a\u65ad\u304c\u3064\u3044\u305f\u5834\u5408\u306f\u3001\u3088\u308a\u65e9\u671f\u306b\u767a\u75c7\u3057\u3001\u767a\u9054\u306e\u9045\u308c\u3092\u4f34\u3046\u91cd\u3044\u578b\u3067\u3042\u308b\u3053\u3068\u3092\u610f\u5473\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<figure class=\"wp-table wp-block-table\">\n<table><thead><tr><th>GABRA1\u5909\u7570\u306b\u3088\u308b\u75be\u60a3<\/th><th>\u767a\u75c7\u6642\u671f\u306e\u76ee\u5b89<\/th><th>\u77e5\u7684\u306a\u9045\u308c<\/th><\/tr><\/thead>\n<tbody>\n<tr><td>DEE19\uff08\u4eca\u56de\u306e\u75be\u60a3\uff09<\/td><td>\u751f\u5f8c\u6570\u30f6\u6708\u301c2\u6b73\u9803<\/td><td>\u4e2d\u7b49\u5ea6\u301c\u91cd\u5ea6\u304c\u591a\u3044<\/td><\/tr>\n<tr><td>\u82e5\u5e74\u30df\u30aa\u30af\u30ed\u30cb\u30fc\u3066\u3093\u304b\u3093<\/td><td>\u601d\u6625\u671f\u524d\u5f8c<\/td><td>\u4f34\u308f\u306a\u3044\u3053\u3068\u304c\u591a\u3044<\/td><\/tr>\n<tr><td>\u5c0f\u5150\u6b20\u795e\u3066\u3093\u304b\u3093<\/td><td>\u5e7c\u5150\u671f\u301c\u5b66\u7ae5\u671f<\/td><td>\u4f34\u308f\u306a\u3044\u3053\u3068\u304c\u591a\u3044<\/td><\/tr>\n<\/tbody><\/table>\n<\/figure>\n\n\n\n<p>\u540c\u3058\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3067\u3082\u3001\u5909\u5316\u304c\u8d77\u304d\u308b\u5834\u6240\u3084\u30bf\u30f3\u30d1\u30af\u8cea\u3078\u306e\u5f71\u97ff\u306e\u5ea6\u5408\u3044\u306b\u3088\u3063\u3066\u3001\u73fe\u308c\u308b\u75c7\u72b6\u306e\u91cd\u3055\u304c\u5927\u304d\u304f\u5909\u308f\u308a\u307e\u3059\u3002\u3053\u306e\u70b9\u306f\u3001GABRA1\u5909\u7570\u3092\u5bfe\u8c61\u3068\u3057\u305f2024\u5e74\u306e\u5b66\u8853\u7814\u7a76\u3067\u3082\u3001\u5909\u7570\u306e\u7a2e\u985e\u3068\u91cd\u75c7\u5ea6\u306e\u95a2\u9023\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059<sup><a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC10806124\/\" target=\"_blank\" rel=\"noopener\">[1]<\/a><\/sup>\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%EF%BC%9A%E3%81%A6%E3%82%93%E3%81%8B%E3%82%93%E7%99%BA%E4%BD%9C%E3%83%BB%E7%99%BA%E9%81%94%E3%81%AE%E9%81%85%E3%82%8C%E3%83%BB%E3%81%9D%E3%81%AE%E4%BB%96%E3%81%AE%E7%89%B9%E5%BE%B4\"><\/span><strong>\u4e3b\u306a\u75c7\u72b6\uff1a\u3066\u3093\u304b\u3093\u767a\u4f5c\u30fb\u767a\u9054\u306e\u9045\u308c\u30fb\u305d\u306e\u4ed6\u306e\u7279\u5fb4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>DEE19\u306e\u75c7\u72b6\u306f\u3001\u3066\u3093\u304b\u3093\u767a\u4f5c\u30fb\u767a\u9054\u306e\u9045\u308c\u30fb\u795e\u7d4c\u5b66\u7684\u306a\u7279\u5fb4\u306e\u4e09\u3064\u306b\u5927\u304d\u304f\u5206\u3051\u3089\u308c\u307e\u3059\u3002\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\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u4ee3\u8868\u7684\u306a\u7279\u5fb4\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=\"1_%E3%81%A6%E3%82%93%E3%81%8B%E3%82%93%E7%99%BA%E4%BD%9C\"><\/span><strong>1. \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\u3067\u3001\u751f\u5f8c\u6570\u30f6\u6708\u304b\u3089\u9045\u304f\u3068\u30822\u6b73\u9803\u307e\u3067\u306b\u3066\u3093\u304b\u3093\u767a\u4f5c\u304c\u59cb\u307e\u308a\u307e\u3059\u3002\u767a\u4f5c\u306e\u5f62\u306f\u69d8\u3005\u3067\u3059\u304c\u3001DEE19\u3067\u306f\u5168\u8eab\u6027\u306e\u767a\u4f5c\u304c\u591a\u304f\u898b\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5168\u822c\u5f37\u76f4\u9593\u4ee3\u767a\u4f5c\u306f\u3001\u5168\u8eab\u304c\u786c\u76f4\u3057\u305f\u3042\u3068\u306b\u30ac\u30af\u30ac\u30af\u3068\u9707\u3048\u308b\u5927\u304d\u306a\u767a\u4f5c\u3067\u3059\u3002\u30df\u30aa\u30af\u30ed\u30cb\u30fc\u767a\u4f5c\u306f\u3001\u624b\u8db3\u3084\u4f53\u304c\u4e00\u77ac\u30d3\u30af\u30c3\u3068\u3059\u308b\u767a\u4f5c\u3092\u6307\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6b20\u795e\u767a\u4f5c\u3067\u306f\u3001\u610f\u8b58\u304c\u6570\u79d2\u9593\u9014\u5207\u308c\u52d5\u4f5c\u304c\u6b62\u307e\u308a\u307e\u3059\u3002\u5f37\u76f4\u767a\u4f5c\u3067\u306f\u3001\u624b\u8db3\u304c\u7a81\u3063\u5f35\u3063\u3066\u786c\u304f\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7279\u306b\u3001\u767a\u71b1\u3057\u305f\u6642\u306b\u767a\u4f5c\u304c\u8d77\u304d\u3084\u3059\u304f\u306a\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002\u6700\u521d\u306f\u71b1\u6027\u3051\u3044\u308c\u3093\u3068\u3057\u3066\u767a\u75c7\u3057\u3001\u305d\u306e\u5f8c\u306f\u767a\u71b1\u304c\u306a\u304f\u3066\u3082\u767a\u4f5c\u304c\u8d77\u304d\u308b\u3088\u3046\u306b\u306a\u308b\u7d4c\u904e\u3092\u305f\u3069\u308b\u304a\u5b50\u3055\u3093\u3082\u3044\u307e\u3059\u3002\u5149\u306e\u70b9\u6ec5\u3067\u767a\u4f5c\u304c\u8a98\u767a\u3055\u308c\u308b\u5149\u611f\u53d7\u6027\u3092\u6301\u3064\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>DEE19\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\u5c11\u306a\u304f\u3042\u308a\u307e\u305b\u3093\u3002\u8907\u6570\u306e\u85ac\u3092\u7d44\u307f\u5408\u308f\u305b\u3066\u3082\u767a\u4f5c\u3092\u5b8c\u5168\u306b\u6b62\u3081\u308b\u306e\u306f\u96e3\u3057\u304f\u3001\u767a\u4f5c\u306e\u983b\u5ea6\u3092\u6e1b\u3089\u3057\u3001\u751f\u6d3b\u306e\u8cea\u3092\u4fdd\u3064\u3053\u3068\u3092\u76ee\u6a19\u306b\u6cbb\u7642\u304c\u9032\u3081\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%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>2. \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\u767a\u9054\u306e\u9045\u308c\u304c\u898b\u3089\u308c\u307e\u3059\u3002\u3053\u308c\u306f\u767a\u4f5c\u306b\u3088\u308b\u30c0\u30e1\u30fc\u30b8\u3060\u3051\u3067\u306a\u304f\u3001GABRA1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u305d\u306e\u3082\u306e\u304c\u8133\u306e\u767a\u9054\u306b\u5f71\u97ff\u3057\u3066\u3044\u308b\u305f\u3081\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u9996\u304c\u3059\u308f\u308b\u3001\u76ee\u3067\u3082\u306e\u3092\u8ffd\u3046\u3001\u304a\u5ea7\u308a\u3092\u3059\u308b\u3001\u6b69\u304f\u3068\u3044\u3063\u305f\u904b\u52d5\u9762\u306e\u767a\u9054\u304c\u3086\u3063\u304f\u308a\u306b\u306a\u308a\u307e\u3059\u3002\u3042\u3084\u3059\u3068\u7b11\u3046\u3001\u8a00\u8449\u3092\u7406\u89e3\u3059\u308b\u3068\u3044\u3063\u305f\u7cbe\u795e\u9762\u306e\u767a\u9054\u3082\u3001\u4e00\u822c\u7684\u306a\u30da\u30fc\u30b9\u3088\u308a\u3086\u3063\u304f\u308a\u3067\u3059\u3002\u591a\u304f\u306e\u5834\u5408\u3001\u4e2d\u7b49\u5ea6\u304b\u3089\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<\/p>\n\n\n\n<p>\u8a00\u8449\u306b\u3088\u308b\u4f1a\u8a71\u306f\u96e3\u3057\u3044\u3053\u3068\u304c\u591a\u3044\u4e00\u65b9\u3001\u58f0\u306e\u30c8\u30fc\u30f3\u3084\u8868\u60c5\u3001\u5168\u8eab\u306e\u52d5\u304d\u3067\u5feb\u30fb\u4e0d\u5feb\u306e\u611f\u60c5\u3092\u4f1d\u3048\u3089\u308c\u308b\u304a\u5b50\u3055\u3093\u3082\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8d64\u3061\u3083\u3093\u306e\u9803\u306f\u3001\u4f53\u304c\u3075\u306b\u3083\u3075\u306b\u3083\u3068\u67d4\u3089\u304b\u3044<strong>\u7b4b\u7dca\u5f35\u4f4e\u4e0b<\/strong>\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u975e\u5e38\u306b\u591a\u304f\u3001\u904b\u52d5\u767a\u9054\u304c\u3086\u3063\u304f\u308a\u306b\u306a\u308b\u4e00\u56e0\u3068\u306a\u3063\u3066\u3044\u307e\u3059\u3002\u304a\u5ea7\u308a\u3084\u6b69\u884c\u304c\u3067\u304d\u308b\u3088\u3046\u306b\u306a\u3063\u3066\u3082\u3001\u4f53\u304c\u3075\u3089\u3064\u3044\u305f\u308a\u624b\u304c\u9707\u3048\u305f\u308a\u3059\u308b\u904b\u52d5\u5931\u8abf\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=\"3_%E3%81%9D%E3%81%AE%E4%BB%96%E3%81%AE%E8%BA%AB%E4%BD%93%E7%97%87%E7%8A%B6\"><\/span><strong>3. \u305d\u306e\u4ed6\u306e\u8eab\u4f53\u75c7\u72b6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u795e\u7d4c\u4ee5\u5916\u306e\u8eab\u4f53\u7684\u306a\u8ab2\u984c\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u307e\u305a\u751f\u6d3b\u306b\u95a2\u308f\u308b\u4e8c\u3064\u306e\u75c7\u72b6\u3092\u78ba\u8a8d\u3057\u307e\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<p>\u751f\u307e\u308c\u305f\u76f4\u5f8c\u304b\u3089\u3001\u304a\u3063\u3071\u3044\u3084\u30df\u30eb\u30af\u3092\u98f2\u3080\u529b\u304c\u5f31\u3044\u54fa\u4e73\u969c\u5bb3\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u96e2\u4e73\u98df\u304c\u59cb\u307e\u3063\u3066\u3082\u3001\u98df\u3079\u7269\u3092\u98f2\u307f\u8fbc\u3080\u306e\u304c\u82e6\u624b\u306a\u56a5\u4e0b\u969c\u5bb3\u304c\u898b\u3089\u308c\u308b\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8996\u7dda\u3092\u5408\u308f\u305b\u306b\u304f\u3044\u3001\u540c\u3058\u52d5\u4f5c\u3092\u7e70\u308a\u8fd4\u3059\u3001\u3053\u3060\u308f\u308a\u304c\u5f37\u3044\u3068\u3044\u3063\u305f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7<\/a>\u306b\u4f3c\u305f\u884c\u52d5\u306e\u7279\u5fb4\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u305f\u3060\u3057\u3001\u3053\u308c\u3089\u306e\u7279\u5fb4\u304c\u3042\u308b\u304b\u3089\u3068\u3044\u3063\u3066<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7<\/a>\u306e\u8a3a\u65ad\u304c\u78ba\u5b9a\u3059\u308b\u308f\u3051\u3067\u306f\u306a\u304f\u3001\u3042\u304f\u307e\u3067DEE19\u306b\u4f34\u3044\u3046\u308b\u7279\u5fb4\u306e\u4e00\u3064\u3068\u3057\u3066\u6349\u3048\u308b\u3053\u3068\u304c\u5927\u5207\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\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%8E%9F%E5%9B%A0%EF%BC%9AGABRA1%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%A8GABA%E5%8F%97%E5%AE%B9%E4%BD%93%E3%81%AE%E3%83%96%E3%83%AC%E3%83%BC%E3%82%AD%E6%A9%9F%E6%A7%8B\"><\/span><strong>\u539f\u56e0\uff1aGABRA1\u907a\u4f1d\u5b50\u3068GABA\u53d7\u5bb9\u4f53\u306e\u30d6\u30ec\u30fc\u30ad\u6a5f\u69cb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>DEE19\u306e\u539f\u56e0\u306f\u3001\u8133\u306e\u795e\u7d4c\u7d30\u80de\u306b\u3042\u308b\u8208\u596e\u3092\u6291\u3048\u308b\u30d6\u30ec\u30fc\u30ad\u30b7\u30b9\u30c6\u30e0\u306e\u6545\u969c\u306b\u3042\u308a\u307e\u3059\u3002\u306a\u305c\u3066\u3093\u304b\u3093\u3084\u767a\u9054\u306e\u9045\u308c\u304c\u8d77\u304d\u308b\u306e\u304b\u3001\u305d\u306e\u4ed5\u7d44\u307f\u3092\u898b\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"GABRA1%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AE%E5%BD%B9%E5%89%B2\"><\/span><strong>GABRA1\u907a\u4f1d\u5b50\u306e\u5f79\u5272<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>DEE19\u306e\u539f\u56e0\u306f\u3001<strong>\u7b2c5\u756a\u67d3\u8272\u4f53<\/strong>\u306b\u3042\u308bGABRA1\uff08\u30ae\u30e3\u30d6\u30e9\u30fb\u30ef\u30f3\uff09\u3068\u3044\u3046\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3067\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306f\u3001GABA\uff08\u30ae\u30e3\u30d0\uff09\u53d7\u5bb9\u4f53\u3068\u3044\u3046\u3001\u8133\u306e\u4e2d\u3067\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3059\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u90e8\u54c1\u3092\u4f5c\u308b\u305f\u3081\u306e\u8a2d\u8a08\u56f3\u306b\u3042\u305f\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>GABA\u3068\u3044\u3046\u7269\u8cea\u306e\u540d\u524d\u3092\u8033\u306b\u3057\u305f\u3053\u3068\u304c\u3042\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002\u4f53\u306e\u4e2d\u3067\u306f\u3001\u8133\u306e\u795e\u7d4c\u7d30\u80de\u306e\u8208\u596e\u3092\u6291\u3048\u308b\u3001\u3044\u308f\u3070\u30d6\u30ec\u30fc\u30ad\u5f79\u306e\u795e\u7d4c\u4f1d\u9054\u7269\u8cea\u3068\u3057\u3066\u50cd\u3044\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u795e\u7d4c\u7d30\u80de\u306e\u8868\u9762\u306b\u306f\u3001\u3053\u306eGABA\u3092\u53d7\u3051\u53d6\u308b\u53d7\u3051\u76bf\u3067\u3042\u308bGABA-A\u53d7\u5bb9\u4f53\u304c\u3042\u308a\u307e\u3059\u3002GABRA1\u907a\u4f1d\u5b50\u306f\u3001\u3053\u306e\u53d7\u5bb9\u4f53\u3092\u69cb\u6210\u3059\u308b\u4e3b\u8981\u306a\u90e8\u54c1\u306e\u4e00\u3064\u3001<strong>\u30a2\u30eb\u30d5\u30a11\u30b5\u30d6\u30e6\u30cb\u30c3\u30c8<\/strong>\u3092\u4f5c\u308b\u8a2d\u8a08\u56f3\u3067\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%90%E3%81%AE%E5%A4%89%E5%8C%96%E3%81%AB%E3%82%88%E3%82%8B%E5%BD%B1%E9%9F%BF\"><\/span><strong>\u907a\u4f1d\u5b50\u306e\u5909\u5316\u306b\u3088\u308b\u5f71\u97ff<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>GABRA1\u907a\u4f1d\u5b50\u306b\u5909\u7570\u304c\u8d77\u304d\u308b\u3068\u3001GABA-A\u53d7\u5bb9\u4f53\u306e\u5f62\u304c\u5909\u308f\u3063\u305f\u308a\u3001\u6570\u304c\u6e1b\u3063\u305f\u308a\u3057\u307e\u3059\u3002\u6700\u3082\u4e00\u822c\u7684\u306a\u306e\u306f\u3001\u53d7\u5bb9\u4f53\u304c\u3046\u307e\u304f\u50cd\u304b\u306a\u304f\u306a\u308b<strong>\u6a5f\u80fd\u55aa\u5931\u578b\u5909\u7570<\/strong>\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u30d6\u30ec\u30fc\u30ad\u3067\u3042\u308bGABA\u3092\u53d7\u3051\u53d6\u308b\u53d7\u5bb9\u4f53\u304c\u58ca\u308c\u308b\u3068\u3001\u795e\u7d4c\u7d30\u80de\u306e\u8208\u596e\u3092\u93ae\u3081\u3089\u308c\u306a\u304f\u306a\u308a\u307e\u3059\u3002\u30d6\u30ec\u30fc\u30ad\u304c\u58ca\u308c\u305f\u8eca\u304c\u66b4\u8d70\u3059\u308b\u3088\u3046\u306b\u3001\u8133\u306e\u795e\u7d4c\u304c\u904e\u5270\u306b\u8208\u596e\u3057\u3001\u6fc0\u3057\u3044\u3066\u3093\u304b\u3093\u767a\u4f5c\u304c\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u306e\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001GABA\u306b\u3088\u308b\u4fe1\u53f7\u4f1d\u9054\u306f\u3001\u8133\u304c\u4f5c\u3089\u308c\u308b\u6642\u671f\u306e\u795e\u7d4c\u7d30\u80de\u306e\u79fb\u52d5\u3084\u30cd\u30c3\u30c8\u30ef\u30fc\u30af\u5f62\u6210\u306b\u3082\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u4ed5\u7d44\u307f\u304c\u4e71\u308c\u308b\u3053\u3068\u3067\u3001\u8133\u306e\u767a\u9054\u305d\u306e\u3082\u306e\u306b\u3082\u9045\u308c\u304c\u751f\u3058\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\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%E3%81%AB%E3%81%A4%E3%81%84%E3%81%A6\"><\/span><strong>\u907a\u4f1d\u306b\u3064\u3044\u3066<\/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\u81e8\u5e8a\u306e\u73fe\u5834\u3067\u3082\u3001\u305d\u3046\u6253\u3061\u660e\u3051\u3066\u6d99\u3055\u308c\u308b\u304a\u6bcd\u69d8\u306b\u5e7e\u5ea6\u3068\u306a\u304f\u51fa\u4f1a\u3063\u3066\u304d\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u91cd\u75c7\u578b\u3067\u3042\u308bDEE19\u306e\u307b\u3068\u3093\u3069\u306e\u30b1\u30fc\u30b9\u306f<strong>\u65b0\u751f\u7a81\u7136\u5909\u7570\uff08de novo\u5909\u7570\uff09<\/strong>\u306b\u3088\u308b\u3082\u306e\u3067\u3059\u3002\u3054\u4e21\u89aa\u306e\u907a\u4f1d\u5b50\u306b\u306f\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\u76f4\u5f8c\u306e\u7d30\u80de\u5206\u88c2\u306e\u6bb5\u968e\u3067\u3001\u5076\u7136\u306bGABRA1\u907a\u4f1d\u5b50\u306b\u5909\u5316\u304c\u8d77\u304d\u305f\u3053\u3068\u3092\u610f\u5473\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u907a\u4f1d\u5f62\u5f0f\u3068\u3057\u3066\u306f<strong>\u5e38\u67d3\u8272\u4f53\u9855\u6027\u907a\u4f1d<\/strong>\u306b\u5206\u985e\u3055\u308c\u307e\u3059\u304c\u3001\u5b9f\u969b\u306b\u306f\u305d\u306e\u307b\u3068\u3093\u3069\u304c\u65b0\u751f\u7a81\u7136\u5909\u7570\u3067\u3042\u308b\u305f\u3081\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\u598a\u5a20\u4e2d\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\u306a\u304f\u3001\u8ab0\u306b\u3067\u3082\u8d77\u3053\u308a\u3046\u308b\u5076\u7136\u306e\u73fe\u8c61\u3067\u3059\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2026\/01\/33413796_s.webp\" alt=\"GABRA1\u907a\u4f1d\u5b50\u3068GABA-A\u53d7\u5bb9\u4f53\u306e\u50cd\u304d\u3092\u30a4\u30e1\u30fc\u30b8\u3057\u305f\u5199\u771f\" class=\"wp-image-123081\"\/><\/figure><\/div>\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"GABRA5%EF%BC%88DEE79%EF%BC%89%E3%81%AA%E3%81%A9%E4%BC%BC%E3%81%9F%E9%81%BA%E4%BC%9D%E5%AD%90%E3%83%BB%E7%97%85%E5%90%8D%E3%81%A8%E3%81%AE%E9%81%95%E3%81%84\"><\/span><strong>GABRA5\uff08DEE79\uff09\u306a\u3069\u4f3c\u305f\u907a\u4f1d\u5b50\u30fb\u75c5\u540d\u3068\u306e\u9055\u3044<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>DEE19\u306e\u539f\u56e0\u306fGABRA1\u907a\u4f1d\u5b50\u3067\u3042\u308a\u3001\u540d\u524d\u3084\u756a\u53f7\u304c\u4f3c\u3066\u3044\u308b\u4ed6\u306eGABA\u53d7\u5bb9\u4f53\u95a2\u9023\u75be\u60a3\u3068\u306f\u539f\u56e0\u907a\u4f1d\u5b50\u3082\u75c7\u72b6\u306e\u50be\u5411\u3082\u7570\u306a\u308a\u307e\u3059\u3002\u691c\u7d22\u3067\u4f3c\u305f\u75c5\u540d\u306b\u305f\u3069\u308a\u7740\u3044\u305f\u3054\u5bb6\u65cf\u306e\u305f\u3081\u306b\u3001\u4ee3\u8868\u7684\u306a\u9055\u3044\u3092\u6574\u7406\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>GABA-A\u53d7\u5bb9\u4f53\u306f\u3001GABRA1\u306e\u307b\u304b\u306b\u3082GABRA5\u306a\u3069\u3044\u304f\u3064\u3082\u306e\u30b5\u30d6\u30e6\u30cb\u30c3\u30c8\u306e\u7d44\u307f\u5408\u308f\u305b\u3067\u3067\u304d\u3066\u3044\u307e\u3059\u3002GABRA5\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306f\u3001<strong>DEE79\uff08\u767a\u9054\u6027\u304a\u3088\u3073\u3066\u3093\u304b\u3093\u6027\u8133\u75c779\u578b\uff09<\/strong>\u3068\u3044\u3046\u5225\u306e\u75be\u60a3\u306e\u539f\u56e0\u306b\u306a\u308b\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>GABRA1\u3068GABRA5\u306f\u540c\u3058GABA-A\u53d7\u5bb9\u4f53\u30d5\u30a1\u30df\u30ea\u30fc\u306e\u907a\u4f1d\u5b50\u3067\u3059\u3002\u305f\u3060\u3057\u4f5c\u308b\u30b5\u30d6\u30e6\u30cb\u30c3\u30c8\u306e\u7a2e\u985e\uff08\u30a2\u30eb\u30d5\u30a11\u304b\u30a2\u30eb\u30d5\u30a15\u304b\uff09\u304c\u7570\u306a\u308a\u3001\u8133\u5185\u3067\u306e\u5206\u5e03\u3084\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u75c7\u72b6\u306e\u50be\u5411\u3082\u7570\u306a\u308a\u307e\u3059\u3002GABRA5\u95a2\u9023\u306e\u75be\u60a3\u306b\u3064\u3044\u3066\u306f\u3001\u59c9\u59b9\u30b5\u30a4\u30c8\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-92-gabra5-guide\/\" target=\"_blank\" rel=\"noopener\">GABRA5\u907a\u4f1d\u5b50\u3068DEE79\u306e\u30ac\u30a4\u30c9\u8a18\u4e8b<\/a>\u3067\u8a73\u3057\u304f\u89e3\u8aac\u3057\u3066\u3044\u307e\u3059\u306e\u3067\u3001\u3042\u308f\u305b\u3066\u3054\u78ba\u8a8d\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u767a\u9054\u6027\u304a\u3088\u3073\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\u306e\u4e2d\u3067\u3082\u3063\u3068\u3082\u5831\u544a\u6570\u304c\u591a\u3044\u306e\u306f\u3001<strong>STXBP1<\/strong>\u907a\u4f1d\u5b50\u304c\u539f\u56e0\u306eDEE4\u3067\u3059\u3002GABRA1\u5909\u7570\u306b\u3088\u308bDEE19\u3068\u306f\u539f\u56e0\u907a\u4f1d\u5b50\u3082\u30e1\u30ab\u30cb\u30ba\u30e0\u3082\u7570\u306a\u308b\u75be\u60a3\u3067\u3059\u3002\u305f\u3060\u3057\u540c\u3058\u75c5\u540d\u30b0\u30eb\u30fc\u30d7\u3068\u3057\u3066\u6df7\u540c\u3055\u308c\u3084\u3059\u3044\u305f\u3081\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-4-stxbp1-guide\/\" target=\"_blank\" rel=\"noopener\">STXBP1\u95a2\u9023\u8133\u75c7\uff08DEE4\uff09\u306e\u30ac\u30a4\u30c9\u8a18\u4e8b<\/a>\u3067\u6bd4\u8f03\u3057\u3066\u304a\u304f\u3068\u7406\u89e3\u304c\u6df1\u307e\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8a3a\u65ad\u540d\u306b\u8a18\u8f09\u3055\u308c\u305f\u539f\u56e0\u907a\u4f1d\u5b50\u306e\u540d\u524d\u3092\u5fc5\u305a\u78ba\u8a8d\u3059\u308b\u3053\u3068\u304c\u3001\u6b63\u78ba\u306a\u60c5\u5831\u306b\u305f\u3069\u308a\u7740\u304f\u6700\u521d\u306e\u4e00\u6b69\u3067\u3059\u3002\u756a\u53f7\u3060\u3051\u3067\u691c\u7d22\u3059\u308b\u3068\u3001\u5225\u306e\u907a\u4f1d\u5b50\u304c\u539f\u56e0\u306e\u75be\u60a3\u306e\u60c5\u5831\u3068\u6df7\u540c\u3057\u3066\u3057\u307e\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\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%E3%81%AE%E6%B5%81%E3%82%8C\"><\/span><strong>\u8a3a\u65ad\u3068\u691c\u67fb\u306e\u6d41\u308c<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>DEE19\u306e\u8a3a\u65ad\u306f\u3001\u75c7\u72b6\u306e\u89b3\u5bdf\u30fb\u8133\u6ce2\u691c\u67fb\u30fb\u753b\u50cf\u691c\u67fb\u30fb\u907a\u4f1d\u5b50\u691c\u67fb\u3092\u7d44\u307f\u5408\u308f\u305b\u3066\u884c\u308f\u308c\u307e\u3059\u3002\u305d\u308c\u305e\u308c\u306e\u691c\u67fb\u304c\u62c5\u3046\u5f79\u5272\u3092\u78ba\u8a8d\u3057\u3066\u3044\u304d\u307e\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E8%84%B3%E6%B3%A2%E6%A4%9C%E6%9F%BB\"><\/span><strong>1. \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\u8133\u306e\u6d3b\u52d5\u72b6\u614b\u3092\u8abf\u3079\u308b\u305f\u3081\u306b\u4e0d\u53ef\u6b20\u306a\u691c\u67fb\u3067\u3059\u3002DEE19\u306e\u304a\u5b50\u3055\u3093\u306e\u8133\u6ce2\u3067\u306f\u3001\u8133\u5168\u4f53\u304b\u3089\u4e00\u6589\u306b\u3066\u3093\u304b\u3093\u6ce2\u304c\u51fa\u308b\u5168\u822c\u6027\u68d8\u5f90\u6ce2\u3068\u3044\u3046\u30d1\u30bf\u30fc\u30f3\u304c\u591a\u304f\u898b\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u767a\u4f5c\u304c\u306a\u3044\u6642\u306e\u80cc\u666f\u6d3b\u52d5\u304c\u3086\u3063\u304f\u308a\u306b\u306a\u308b\u5f90\u6ce2\u5316\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u3001\u3053\u308c\u306f\u8133\u6a5f\u80fd\u3078\u306e\u5f71\u97ff\u3092\u793a\u5506\u3059\u308b\u6240\u898b\u3067\u3059\u3002\u5149\u611f\u53d7\u6027\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u5149\u523a\u6fc0\u691c\u67fb\u3067\u7570\u5e38\u306a\u53cd\u5fdc\u304c\u78ba\u8a8d\u3055\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=\"2_%E7%94%BB%E5%83%8F%E6%A4%9C%E6%9F%BB%EF%BC%88MRI%EF%BC%89\"><\/span><strong>2. \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\u306f\u660e\u3089\u304b\u306a\u7570\u5e38\u304c\u898b\u3089\u308c\u306a\u3044\u3053\u3068\u304c\u591a\u3044\u3082\u306e\u306e\u3001\u767a\u4f5c\u304c\u9577\u304f\u7d9a\u3044\u305f\u5f8c\u306b\u306f\u8133\u5168\u4f53\u304c\u3084\u3084\u840e\u7e2e\u3059\u308b\u6240\u898b\u304c\u78ba\u8a8d\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u4ed6\u306e\u75c5\u6c17\u3092\u9664\u5916\u3059\u308b\u76ee\u7684\u3067\u3082\u91cd\u8981\u306a\u691c\u67fb\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E9%81%BA%E4%BC%9D%E5%AD%A6%E7%9A%84%E6%A4%9C%E6%9F%BB\"><\/span><strong>3. \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\u666e\u53ca\u3057\u3066\u304d\u305f\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b5\u30fc\u3092\u7528\u3044\u305f<strong>\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\uff08WES\uff09<\/strong>\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<\/p>\n\n\n\n<p>DEE19\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\u304f\u3001\u3053\u306e\u7db2\u7f85\u7684\u306a\u907a\u4f1d\u5b50\u691c\u67fb\u3092\u7d4c\u3066\u521d\u3081\u3066GABRA1\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\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u306e\u4ed5\u7d44\u307f\u306b\u3064\u3044\u3066\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/exome-sequencing-wes\/\" target=\"_blank\" rel=\"noopener\">\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\uff08WES\uff09\u3068\u306f\uff1f<\/a>\u306e\u30da\u30fc\u30b8\u3082\u53c2\u8003\u306b\u3057\u3066\u304f\u3060\u3055\u3044\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%E7%99%BA%E4%BD%9C%E3%81%AE%E3%82%B3%E3%83%B3%E3%83%88%E3%83%AD%E3%83%BC%E3%83%AB%E3%81%A8%E7%99%82%E8%82%B2%E3%81%AE%E4%B8%A1%E7%AB%8B\"><\/span><strong>\u6cbb\u7642\u3068\u7ba1\u7406\uff1a\u767a\u4f5c\u306e\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3068\u7642\u80b2\u306e\u4e21\u7acb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u907a\u4f1d\u5b50\u306e\u5909\u5316\u305d\u306e\u3082\u306e\u3092\u6cbb\u3059\u6cbb\u7642\u6cd5\u306f\u73fe\u6642\u70b9\u3067\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u304c\u3001\u75c7\u72b6\u3054\u3068\u306e\u5bfe\u75c7\u7642\u6cd5\u3068\u7642\u80b2\u306b\u3088\u3063\u3066\u751f\u6d3b\u306e\u8cea\u3092\u9ad8\u3081\u308b\u3053\u3068\u306f\u5341\u5206\u306b\u53ef\u80fd\u3067\u3059\u3002\u6cbb\u7642\u306e\u67f1\u3092\u4e00\u3064\u305a\u3064\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E3%81%A6%E3%82%93%E3%81%8B%E3%82%93%E3%81%AE%E6%B2%BB%E7%99%82\"><\/span><strong>1. \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\u3002GABRA1\u5909\u7570\u306b\u5bfe\u3059\u308b\u7279\u52b9\u85ac\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\u85ac\u304c\u8a66\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u30d0\u30eb\u30d7\u30ed\u9178\u3001\u30ec\u30d9\u30c1\u30e9\u30bb\u30bf\u30e0\u3001\u30af\u30ed\u30d0\u30b6\u30e0\u3001\u30c8\u30d4\u30e9\u30de\u30fc\u30c8\u3001\u30be\u30cb\u30b5\u30df\u30c9\u306a\u3069\u304c\u4f7f\u308f\u308c\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u5168\u822c\u767a\u4f5c\u306e\u30bf\u30a4\u30d7\u304c\u591a\u3044\u304a\u5b50\u3055\u3093\u306b\u306f\u5e83\u57df\u30b9\u30da\u30af\u30c8\u30eb\u306e\u85ac\u5264\u304c\u7b2c\u4e00\u9078\u629e\u3068\u306a\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002\u85ac\u3060\u3051\u3067\u767a\u4f5c\u304c\u6b62\u307e\u3089\u306a\u3044\u5834\u5408\u306f\u3001\u8102\u80aa\u5206\u3092\u591a\u304f\u3057\u7cd6\u8cea\u3092\u6975\u7aef\u306b\u6e1b\u3089\u3059<strong>\u30b1\u30c8\u30f3\u98df\u7642\u6cd5<\/strong>\u304c\u691c\u8a0e\u3055\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=\"2_%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>2. \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\u6b20\u304b\u305b\u307e\u305b\u3093\u3002\u5c02\u9580\u8077\u3054\u3068\u306e\u5f79\u5272\u3092\u898b\u3066\u3044\u304d\u307e\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<p><strong>\u7406\u5b66\u7642\u6cd5\uff08PT\uff09<\/strong>\u3067\u306f\u3001\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3084\u3075\u3089\u3064\u304d\u306b\u5bfe\u3057\u3066\u3001\u59ff\u52e2\u3092\u4fdd\u3064\u7df4\u7fd2\u3084\u30b9\u30c8\u30ec\u30c3\u30c1\u3092\u884c\u3044\u307e\u3059\u3002\u6b69\u884c\u304c\u96e3\u3057\u3044\u5834\u5408\u306f\u3001\u5ea7\u4f4d\u4fdd\u6301\u88c5\u7f6e\u3084\u8eca\u6905\u5b50\u3001\u8db3\u5e95\u677f\u306a\u3069\u798f\u7949\u7528\u5177\u306e\u9078\u5b9a\u306b\u3082\u5c02\u9580\u7684\u306a\u52a9\u8a00\u304c\u53d7\u3051\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09<\/strong>\u3067\u306f\u3001\u624b\u5148\u306e\u611f\u899a\u3092\u990a\u3044\u3001\u904a\u3073\u3092\u901a\u3058\u3066\u5916\u754c\u3078\u306e\u8208\u5473\u3092\u5f15\u304d\u51fa\u3057\u307e\u3059\u3002\u98df\u4e8b\u3084\u7740\u66ff\u3048\u306e\u4ecb\u52a9\u65b9\u6cd5\u306a\u3069\u3001\u65e5\u5e38\u751f\u6d3b\u3092\u6574\u3048\u308b\u5de5\u592b\u3082\u5b66\u3079\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09<\/strong>\u3067\u306f\u3001\u8a00\u8449\u306e\u7406\u89e3\u3092\u4fc3\u3059\u3060\u3051\u3067\u306a\u304f\u3001\u7d75\u30ab\u30fc\u30c9\u3084\u30b8\u30a7\u30b9\u30c1\u30e3\u30fc\u306a\u3069\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u306e\u624b\u6bb5\u3092\u63a2\u308a\u307e\u3059\u3002\u98f2\u307f\u8fbc\u307f\u304c\u96e3\u3057\u3044\u5834\u5408\u306f\u3001\u98df\u4e8b\u306e\u5f62\u614b\u3084\u4ecb\u52a9\u59ff\u52e2\u306b\u3064\u3044\u3066\u3082\u6307\u5c0e\u3092\u53d7\u3051\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E6%97%A5%E5%B8%B8%E7%94%9F%E6%B4%BB%E3%81%AE%E3%82%B1%E3%82%A2\"><\/span><strong>3. \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\u304f\u53e3\u304b\u3089\u5341\u5206\u306a\u6804\u990a\u304c\u6442\u308c\u306a\u3044\u5834\u5408\u306f\u3001\u9f3b\u304b\u3089\u306e\u30c1\u30e5\u30fc\u30d6\u3084\u3001\u304a\u8179\u306b\u5c0f\u3055\u306a\u7a74\u3092\u958b\u3051\u3066\u80c3\u306b\u76f4\u63a5\u6804\u990a\u3092\u5165\u308c\u308b\u80c3\u308d\u3046\u306b\u3088\u3063\u3066\u3001\u5fc5\u8981\u306a\u6804\u990a\u3092\u78ba\u4fdd\u3057\u307e\u3059\u3002\u80c3\u308d\u3046\u306f\u8aa4\u56a5\u306e\u30ea\u30b9\u30af\u3092\u6e1b\u3089\u3057\u3001\u98df\u4e8b\u6642\u9593\u306e\u3054\u5bb6\u65cf\u306e\u8ca0\u62c5\u3092\u8efd\u304f\u3059\u308b\u6709\u52b9\u306a\u624b\u6bb5\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u767a\u71b1\u304c\u767a\u4f5c\u306e\u5f15\u304d\u91d1\u306b\u306a\u308a\u3084\u3059\u3044\u305f\u3081\u3001\u611f\u67d3\u75c7\u306b\u304b\u304b\u3063\u305f\u969b\u306f\u65e9\u3081\u306e\u53d7\u8a3a\u3084\u89e3\u71b1\u5264\u306e\u4f7f\u7528\u3001\u767a\u4f5c\u4e88\u9632\u306e\u9813\u670d\u85ac\u306b\u3064\u3044\u3066\u4e3b\u6cbb\u533b\u3068\u3042\u3089\u304b\u3058\u3081\u76f8\u8ac7\u3057\u3066\u304a\u304d\u307e\u3057\u3087\u3046\u3002\u767a\u4f5c\u306b\u3088\u308b\u8ee2\u5012\u3084\u602a\u6211\u3092\u9632\u3050\u305f\u3081\u3001\u5bb6\u5177\u306e\u89d2\u306b\u30af\u30c3\u30b7\u30e7\u30f3\u3092\u4ed8\u3051\u305f\u308a\u3001\u5916\u51fa\u6642\u306b\u4fdd\u8b77\u5e3d\u3092\u7740\u7528\u3057\u305f\u308a\u3059\u308b\u5bfe\u7b56\u3082\u6709\u52b9\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%94%E5%AE%B6%E6%97%8F%E3%81%B8%E2%80%94%E2%80%94%E7%9B%B8%E8%AB%87%E3%81%A7%E3%81%8D%E3%82%8B%E7%AA%93%E5%8F%A3%E3%81%A8%E6%AC%A1%E3%81%AE%E5%A6%8A%E5%A8%A0%E3%81%A7%E3%81%AENIPT\"><\/span><strong>\u3054\u5bb6\u65cf\u3078\u2014\u2014\u76f8\u8ac7\u3067\u304d\u308b\u7a93\u53e3\u3068\u6b21\u306e\u598a\u5a20\u3067\u306eNIPT<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>DEE19\u306e\u3088\u3046\u306a\u5e0c\u5c11\u75be\u60a3\u3067\u306f\u3001\u533b\u7642\u6a5f\u95a2\u306e\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3084\u96e3\u75c5\u76f8\u8ac7\u652f\u63f4\u30bb\u30f3\u30bf\u30fc\u306a\u3069\u3001\u5c02\u9580\u7684\u306b\u76f8\u8ac7\u3067\u304d\u308b\u7a93\u53e3\u3092\u983c\u308b\u3053\u3068\u304c\u5b89\u5fc3\u306b\u3064\u306a\u304c\u308a\u307e\u3059\u3002\u6b21\u306e\u304a\u5b50\u3055\u3093\u3092\u8003\u3048\u308b\u969b\u306e\u691c\u67fb\u306b\u3064\u3044\u3066\u3082\u6574\u7406\u3057\u3066\u304a\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u7d4c\u9a13\u304b\u3089\u611f\u3058\u308b\u306e\u306f\u3001\u591a\u304f\u306e\u3054\u5bb6\u65cf\u304c\u77e5\u308a\u305f\u3044\u306e\u306f\u6570\u5b57\u3084\u5c02\u9580\u7528\u8a9e\u4ee5\u4e0a\u306b\u300c\u3053\u308c\u304b\u3089\u3069\u3046\u5411\u304d\u5408\u3048\u3070\u3088\u3044\u304b\u300d\u3060\u3068\u3044\u3046\u3053\u3068\u3067\u3059\u3002\u81e8\u5e8a\u907a\u4f1d\u5c02\u9580\u533b\u306b\u3088\u308b\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u306f\u3001\u907a\u4f1d\u306e\u4ed5\u7d44\u307f\u3060\u3051\u3067\u306a\u304f\u3001\u4eca\u5f8c\u306e\u751f\u6d3b\u8a2d\u8a08\u306b\u3064\u3044\u3066\u3082\u4e00\u7dd2\u306b\u6574\u7406\u3057\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u304a\u4f4f\u307e\u3044\u306e\u90fd\u9053\u5e9c\u770c\u304c\u8a2d\u7f6e\u3059\u308b<strong>\u96e3\u75c5\u76f8\u8ac7\u652f\u63f4\u30bb\u30f3\u30bf\u30fc<\/strong>\u3067\u306f\u3001\u533b\u7642\u8cbb\u52a9\u6210\u5236\u5ea6\u306e\u6848\u5185\u3084\u3001\u540c\u3058\u75be\u60a3\u3092\u6301\u3064\u3054\u5bb6\u65cf\u540c\u58eb\u306e\u3064\u306a\u304c\u308a\u306b\u3064\u3044\u3066\u76f8\u8ac7\u3067\u304d\u307e\u3059\u3002\u307e\u305a\u306f\u4e00\u4eba\u3067\u62b1\u3048\u8fbc\u307e\u305a\u3001\u5c02\u9580\u306e\u7a93\u53e3\u306b\u9023\u7d61\u3059\u308b\u3053\u3068\u304b\u3089\u59cb\u3081\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<p>\u6b21\u306e\u304a\u5b50\u3055\u3093\u306e\u598a\u5a20\u3092\u8003\u3048\u308b\u969b\u306e\u691c\u67fb\u306b\u3064\u3044\u3066\u3082\u89e6\u308c\u3066\u304a\u304d\u307e\u3059\u3002<strong><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>\uff08\u65b0\u578b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\uff09<\/strong>\u306f\u4e3b\u306b\u67d3\u8272\u4f53\u306e\u6570\u306e\u5909\u5316\u3092\u8abf\u3079\u308b\u691c\u67fb\u3067\u3059\u3002\u901a\u5e38\u306eNIPT\u3060\u3051\u3067GABRA1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3092\u8abf\u3079\u308b\u3053\u3068\u306f\u3067\u304d\u307e\u305b\u3093\u3002\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u3092\u5bfe\u8c61\u3068\u3057\u305fNIPTy-MONO\u306e\u3088\u3046\u306a\u691c\u67fb\u3067\u306f\u3001\u539f\u56e0\u907a\u4f1d\u5b50\u304c\u5224\u660e\u3057\u3066\u3044\u308b\u75be\u60a3\u306e\u4e00\u90e8\u3092\u8abf\u3079\u3089\u308c\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002\u305f\u3060\u3057\u5bfe\u8c61\u75be\u60a3\u306f\u691c\u67fb\u4f1a\u793e\u3084\u30d1\u30cd\u30eb\u306b\u3088\u308a\u7570\u306a\u308a\u307e\u3059\u3002\u5177\u4f53\u7684\u306b\u3069\u306e\u691c\u67fb\u304c\u8a72\u5f53\u3059\u308b\u304b\u306f\u3001\u6b21\u306e\u598a\u5a20\u3092\u8003\u3048\u308b\u30bf\u30a4\u30df\u30f3\u30b0\u3067\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3092\u901a\u3058\u3066\u78ba\u8a8d\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<p>\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u305d\u306e\u3082\u306e\u306e\u8003\u3048\u65b9\u306b\u3064\u3044\u3066\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mono\/\" target=\"_blank\" rel=\"noopener\">\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u3068\u306f\uff1fNIPTy-MONO\u3067200\u7a2e\u4ee5\u4e0a\u3092\u691c\u51fa<\/a>\u306e\u30da\u30fc\u30b8\u3067\u8a73\u3057\u304f\u89e3\u8aac\u3057\u3066\u3044\u307e\u3059\u3002\u307e\u305f\u3001NIPT\u3068<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u306e\u95a2\u4fc2\u3092\u6570\u5b57\u3067\u78ba\u8a8d\u3057\u305f\u3044\u65b9\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-intellectual-disability-statistics-probability\/\" target=\"_blank\" rel=\"noopener\">\u6570\u5b57\u3067\u898b\u308bNIPT\u3002\u77e5\u7684\u969c\u5bb3\u306e\u78ba\u7387\u30fb\u7684\u4e2d\u7387\u30fb\u9650\u754c<\/a>\u3082\u3042\u308f\u305b\u3066\u3054\u53c2\u7167\u304f\u3060\u3055\u3044\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<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%EF%BC%88FAQ%EF%BC%89\"><\/span><strong>\u3088\u304f\u3042\u308b\u8cea\u554f\uff08FAQ\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>DEE19\u3084GABRA1\u306b\u3064\u3044\u3066\u3001\u8a3a\u5bdf\u3084\u3054\u76f8\u8ac7\u3067\u3088\u304f\u5bc4\u305b\u3089\u308c\u308b\u8cea\u554f\u3092\u307e\u3068\u3081\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q1_GABRA1%E3%81%A8DEE19%E3%81%AF%E5%90%8C%E3%81%98%E7%97%85%E6%B0%97%E3%81%A7%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span><strong>Q1. GABRA1\u3068DEE19\u306f\u540c\u3058\u75c5\u6c17\u3067\u3059\u304b\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>GABRA1\u306f\u539f\u56e0\u907a\u4f1d\u5b50\u306e\u540d\u524d\u3001DEE19\u306f\u305d\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u8d77\u304d\u308b\u75be\u60a3\u306e\u8a3a\u65ad\u540d\u3067\u3059\u3002\u540c\u3058\u75c5\u6c17\u3092\u6307\u3059\u4e8c\u3064\u306e\u547c\u3073\u65b9\u3060\u3068\u7406\u89e3\u3057\u3066\u5dee\u3057\u652f\u3048\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q2_DEE19%E3%81%A8GABRA5%EF%BC%88DEE79%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%EF%BC%9F\"><\/span><strong>Q2. DEE19\u3068GABRA5\uff08DEE79\uff09\u306f\u540c\u3058\u75c5\u6c17\u3067\u3059\u304b\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u7570\u306a\u308b\u75c5\u6c17\u3067\u3059\u3002\u3069\u3061\u3089\u3082GABA-A\u53d7\u5bb9\u4f53\u3092\u69cb\u6210\u3059\u308b\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308b\u75be\u60a3\u3067\u3059\u304c\u3001\u539f\u56e0\u907a\u4f1d\u5b50\uff08GABRA1\u3068GABRA5\uff09\u304c\u7570\u306a\u308a\u3001\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u75c7\u72b6\u306e\u50be\u5411\u3082\u5225\u306e\u3082\u306e\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q3_%E8%8B%A5%E5%B9%B4%E3%83%9F%E3%82%AA%E3%82%AF%E3%83%AD%E3%83%8B%E3%83%BC%E3%81%A6%E3%82%93%E3%81%8B%E3%82%93%E3%81%A8%E3%81%AE%E9%81%95%E3%81%84%E3%81%AF%E4%BD%95%E3%81%A7%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span><strong>Q3. \u82e5\u5e74\u30df\u30aa\u30af\u30ed\u30cb\u30fc\u3066\u3093\u304b\u3093\u3068\u306e\u9055\u3044\u306f\u4f55\u3067\u3059\u304b\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u540c\u3058GABRA1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3067\u3082\u3001\u5909\u5316\u306e\u7a2e\u985e\u306b\u3088\u3063\u3066\u73fe\u308c\u308b\u75c5\u6c17\u306e\u91cd\u3055\u304c\u7570\u306a\u308a\u307e\u3059\u3002\u82e5\u5e74\u30df\u30aa\u30af\u30ed\u30cb\u30fc\u3066\u3093\u304b\u3093\u306f\u601d\u6625\u671f\u524d\u5f8c\u306b\u767a\u75c7\u3057\u77e5\u7684\u306a\u9045\u308c\u3092\u4f34\u308f\u306a\u3044\u3053\u3068\u304c\u591a\u3044\u306e\u306b\u5bfe\u3057\u3001DEE19\u306f\u4e73\u5e7c\u5150\u671f\u304b\u3089\u767a\u75c7\u3057\u767a\u9054\u306e\u9045\u308c\u3092\u4f34\u3046\u91cd\u3044\u578b\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q4_%E6%B2%BB%E7%99%82%E6%B3%95%E3%81%AF%E3%81%82%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span><strong>Q4. \u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u3059\u304b\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u907a\u4f1d\u5b50\u306e\u5909\u5316\u305d\u306e\u3082\u306e\u3092\u6cbb\u3059\u65b9\u6cd5\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002\u6297\u3066\u3093\u304b\u3093\u85ac\u3084\u30b1\u30c8\u30f3\u98df\u7642\u6cd5\u3067\u767a\u4f5c\u3092\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3057\u306a\u304c\u3089\u3001\u7642\u80b2\u3084\u30ea\u30cf\u30d3\u30ea\u3067\u767a\u9054\u3092\u652f\u3048\u3066\u3044\u304f\u6cbb\u7642\u304c\u4e2d\u5fc3\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q5_%E5%85%84%E5%BC%9F%E5%A7%89%E5%A6%B9%E3%81%AB%E5%90%8C%E3%81%98%E7%97%85%E6%B0%97%E3%81%8C%E5%87%BA%E3%82%8B%E5%8F%AF%E8%83%BD%E6%80%A7%E3%81%AF%E3%81%82%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span><strong>Q5. \u5144\u5f1f\u59c9\u59b9\u306b\u540c\u3058\u75c5\u6c17\u304c\u51fa\u308b\u53ef\u80fd\u6027\u306f\u3042\u308a\u307e\u3059\u304b\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>DEE19\u306e\u591a\u304f\u306f\u65b0\u751f\u7a81\u7136\u5909\u7570\u306e\u305f\u3081\u3001\u6b21\u306e\u304a\u5b50\u3055\u3093\u306b\u540c\u3058\u5909\u7570\u304c\u8d77\u3053\u308b\u53ef\u80fd\u6027\u306f\u4e00\u822c\u7684\u306a\u96c6\u56e3\u3068\u5927\u304d\u304f\u5909\u308f\u3089\u306a\u3044\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u305f\u3060\u3057\u3001\u307e\u308c\u306b\u3054\u4e21\u89aa\u306e\u3069\u3061\u3089\u304b\u304c\u5909\u7570\u3092<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mosaicism\/\">\u30e2\u30b6\u30a4\u30af<\/a>\u72b6\u306b\u6301\u3064\u5834\u5408\u3082\u3042\u308b\u305f\u3081\u3001\u6b63\u78ba\u306a\u53ef\u80fd\u6027\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=\"Q6_NIPT%E3%81%A7GABRA1%E3%81%AE%E5%A4%89%E7%95%B0%E3%81%AF%E3%82%8F%E3%81%8B%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span><strong>Q6. NIPT\u3067GABRA1\u306e\u5909\u7570\u306f\u308f\u304b\u308a\u307e\u3059\u304b\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u901a\u5e38\u306eNIPT\u306f\u67d3\u8272\u4f53\u306e\u6570\u306e\u5909\u5316\u3092\u8abf\u3079\u308b\u691c\u67fb\u306e\u305f\u3081\u3001GABRA1\u5909\u7570\u306e\u3088\u3046\u306a\u5358\u4e00\u907a\u4f1d\u5b50\u306e\u5909\u5316\u306f\u5bfe\u8c61\u5916\u3067\u3059\u3002\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u3092\u8abf\u3079\u308b\u30d1\u30cd\u30eb\u691c\u67fb\u3067\u5bfe\u5fdc\u3067\u304d\u308b\u5834\u5408\u3082\u3042\u308b\u305f\u3081\u3001\u6b21\u306e\u598a\u5a20\u3092\u691c\u8a0e\u3059\u308b\u969b\u306f\u691c\u67fb\u4f1a\u793e\u306e\u5bfe\u8c61\u75be\u60a3\u3092\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=\"%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>DEE19\u306f\u3001GABRA1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308aGABA-A\u53d7\u5bb9\u4f53\u3068\u3044\u3046\u30d6\u30ec\u30fc\u30ad\u6a5f\u69cb\u304c\u50cd\u304b\u306a\u304f\u306a\u308a\u3001\u3066\u3093\u304b\u3093\u767a\u4f5c\u3068\u767a\u9054\u306e\u9045\u308c\u304c\u540c\u6642\u306b\u751f\u3058\u308b\u5148\u5929\u6027\u75be\u60a3\u3067\u3059\u3002\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\u306f\u3001GABRA1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308b\u8133\u5185\u30d6\u30ec\u30fc\u30ad\u30b7\u30b9\u30c6\u30e0\u306e\u4e0d\u5177\u5408\u3067\u3042\u308a\u3001\u8133\u306e\u904e\u5270\u8208\u596e\u3068\u767a\u9054\u3078\u306e\u5f71\u97ff\u3068\u3044\u3046\u4e8c\u3064\u306e\u5f62\u3067\u73fe\u308c\u307e\u3059\u3002\u4e3b\u306a\u7279\u5fb4\u306f\u3001\u4e73\u5e7c\u5150\u671f\u306e\u3066\u3093\u304b\u3093\u3001\u91cd\u5ea6\u306e\u767a\u9054\u9045\u6ede\u3001\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3001\u904b\u52d5\u5931\u8abf\u3002<\/p>\n\n\n\n<p>\u3066\u3093\u304b\u3093\u306f\u96e3\u6cbb\u6027\u3067\u3042\u308b\u3053\u3068\u304c\u591a\u3044\u3082\u306e\u306e\u3001\u85ac\u306e\u8abf\u6574\u3084\u30b1\u30c8\u30f3\u98df\u7642\u6cd5\u3067\u306e\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3092\u76ee\u6307\u3057\u307e\u3059\u3002\u539f\u56e0\u306e\u591a\u304f\u306f\u65b0\u751f\u7a81\u7136\u5909\u7570\u3067\u3042\u308a\u3001\u89aa\u306e\u305b\u3044\u3067\u306f\u306a\u3044\u73fe\u8c61\u3002<\/p>\n\n\n\n<p>\u30b1\u30a2\u306e\u8981\u70b9\u306f\u3001\u767a\u4f5c\u306e\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3060\u3051\u3067\u306a\u304f\u3001\u30ea\u30cf\u30d3\u30ea\u30fb\u6804\u990a\u7ba1\u7406\u30fb\u5b89\u5168\u5bfe\u7b56\u307e\u3067\u542b\u3081\u305f\u5168\u8eab\u306e\u30c8\u30fc\u30bf\u30eb\u30b1\u30a2\u3002\u540c\u3058GABRA1\u95a2\u9023\u3067\u3082\u75c7\u72b6\u306e\u5e45\u304c\u5e83\u3044\u3053\u3068\u3001GABRA5\u306a\u3069\u4f3c\u305f\u540d\u524d\u306e\u75be\u60a3\u3068\u306f\u539f\u56e0\u907a\u4f1d\u5b50\u304c\u7570\u306a\u308b\u3053\u3068\u3092\u62bc\u3055\u3048\u3066\u304a\u304f\u3068\u3001\u60c5\u5831\u53ce\u96c6\u306e\u969b\u306e\u6df7\u4e71\u3092\u9632\u3052\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u304a\u5b50\u3055\u3093\u306e\u8a3a\u65ad\u3068\u5411\u304d\u5408\u3046\u9053\u306e\u308a\u306f\u9577\u304f\u611f\u3058\u3089\u308c\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u304c\u3001\u4e00\u4eba\u3067\u62b1\u3048\u8fbc\u3080\u5fc5\u8981\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u4e3b\u6cbb\u533b\u3084\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3001\u96e3\u75c5\u76f8\u8ac7\u652f\u63f4\u30bb\u30f3\u30bf\u30fc\u306a\u3069\u3001\u983c\u308c\u308b\u7a93\u53e3\u3092\u4e00\u3064\u305a\u3064\u78ba\u8a8d\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<hr\/>\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 Director\u3002\u6176\u61c9\u7fa9\u587e\u5927\u5b66\u533b\u5b66\u90e8\u5352\u696d\u3002\u65e5\u672c\u3068\u30a2\u30e1\u30ea\u30ab\u306e\u533b\u5e2b\u56fd\u5bb6\u8a66\u9a13\u306b\u5408\u683c\u3057\u3001\u533b\u5b66\u535a\u58eb\u3002\u56fd\u5185\u3067\u3082\u6570\u5c11\u306a\u3044\u30e9\u30dc\u30c7\u30a3\u30ec\u30af\u30bf\u30fc\u8cc7\u683c\u3092\u6301\u3064\u3002\u8457\u66f8\u300e\u598a\u5a20\u3057\u305f\u3089\u6700\u521d\u306b\u8aad\u3093\u3067\u6b32\u3057\u3044\u672c\u300f\u3002\u672c\u8a18\u4e8b\u306f\u533b\u7642\u5e83\u544a\u30ac\u30a4\u30c9\u30e9\u30a4\u30f3\u306b\u914d\u616e\u3057\u3001\u516c\u7684\u6a5f\u95a2\u30fb\u5b66\u8853\u6587\u732e\u306e\u60c5\u5831\u3092\u53c2\u7167\u3057\u3066\u4f5c\u6210\u3057\u3066\u3044\u307e\u3059\u3002\u8a18\u8f09\u306e\u5185\u5bb9\u306f\u6587\u732e\u306b\u3088\u308a\u8868\u73fe\u306b\u5e45\u304c\u3042\u308a\u3001\u8a3a\u65ad\u30fb\u6cbb\u7642\u306e\u6700\u7d42\u5224\u65ad\u306f\u62c5\u5f53\u533b\u306b\u3054\u76f8\u8ac7\u304f\u3060\u3055\u3044\u3002\u53c2\u8003\u60c5\u5831: <a href=\"https:\/\/www.ncbi.nlm.nih.gov\/gtr\/conditions\/C3810400\/\" target=\"_blank\" rel=\"noopener\">\u7c73\u56fd\u56fd\u7acb\u885b\u751f\u7814\u7a76\u6240 \u907a\u4f1d\u5b50\u691c\u67fb\u767b\u9332\uff08GABRA1\u95a2\u9023\u75be\u60a3\u306e\u907a\u4f1d\u5b50\u30fb\u75be\u60a3\u5bfe\u5fdc\u60c5\u5831\uff09<\/a>\uff0f<a href=\"https:\/\/medlineplus.gov\/genetics\/gene\/gabra1\/\" target=\"_blank\" rel=\"noopener\">\u7c73\u56fd\u56fd\u7acb\u533b\u5b66\u56f3\u66f8\u9928 MedlinePlus\uff08GABRA1\u907a\u4f1d\u5b50\u306e\u89e3\u8aac\uff09<\/a>\uff0f<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC10806124\/\" target=\"_blank\" rel=\"noopener\">GABRA1\u5909\u7570\u3068\u5c0f\u5150\u3066\u3093\u304b\u3093\u306b\u95a2\u3059\u308b\u5b66\u8853\u8ad6\u6587\uff08\u7c73\u56fd\u56fd\u7acb\u533b\u5b66\u56f3\u66f8\u9928PMC\u30fb2024\u5e74\uff09<\/a>\uff0f<a href=\"https:\/\/www.frontiersin.org\/journals\/genetics\/articles\/10.3389\/fgene.2026.1818471\/full\" target=\"_blank\" 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