{"id":123053,"date":"2026-01-16T09:25:48","date_gmt":"2026-01-16T00:25:48","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=123053"},"modified":"2026-07-24T05:21:11","modified_gmt":"2026-07-23T20:21:11","slug":"cortical-dysplasia-complex-brain-malformations-5-tubb2a-guide","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/cortical-dysplasia-complex-brain-malformations-5-tubb2a-guide\/","title":{"rendered":"\u8133\u76ae\u8cea\u7570\u5f62\u6210\u3068\u4ed6\u306e\u8133\u5947\u5f62\u3092\u4f34\u3046\u8907\u5408\u4f535\u578b\uff08CDCBM5\uff09"},"content":{"rendered":"\n<div style=\"border:solid #ffe6e6 0.8rem;background-color: #fff9f9;padding:3% 5%;margin:1rem 0 3rem;\"><h2 style=\"margin-top:1rem;\">\u3053\u306e\u8a18\u4e8b\u306e\u307e\u3068\u3081<\/h2><p><strong>\u8133\u76ae\u8cea\u7570\u5f62\u6210\u3068\u4ed6\u306e\u8133\u5947\u5f62\u3092\u4f34\u3046\u8907\u5408\u4f535\u578b\uff08CDCBM5\uff09\u306f\u3001TUBB2A\u907a\u4f1d\u5b50\u306e\u5909\u5316\u306b\u3088\u3063\u3066\u8133\u306e\u795e\u7d4c\u7d30\u80de\u306e\u79fb\u52d5\u304c\u3046\u307e\u304f\u3044\u304b\u305a\u3001\u5927\u8133\u76ae\u8cea\u3084\u5927\u8133\u57fa\u5e95\u6838\u306e\u5f62\u306b\u7279\u5fb4\u304c\u751f\u3058\u308b\u5148\u5929\u6027\u306e\u75be\u60a3\u3067\u3059\u3002<\/strong>\u4e3b\u306a\u75c7\u72b6\u306f\u3001MRI\u3067\u5206\u304b\u308b\u8133\u306e\u5f62\u306e\u7279\u5fb4\u3001\u3066\u3093\u304b\u3093\u767a\u4f5c\u3001\u7b4b\u7dca\u5f35\u306e\u7570\u5e38\u3001\u91cd\u5ea6\u306e\u767a\u9054\u9045\u6ede\u306a\u3069\u3067\u3001\u75c7\u72b6\u306e\u91cd\u3055\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059\u3002\u307b\u3068\u3093\u3069\u306e\u30b1\u30fc\u30b9\u306f\u65b0\u751f\u7a81\u7136\u5909\u7570\uff08de novo\uff09\u306b\u3088\u308b\u3082\u306e\u3067\u3001\u3054\u4e21\u89aa\u306e\u305b\u3044\u3067\u8d77\u304d\u305f\u3082\u306e\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u307e\u3060\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u3066\u3093\u304b\u3093\u306e\u85ac\u7269\u6cbb\u7642\u3068\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u306b\u3088\u3063\u3066\u3001\u304a\u5b50\u3055\u3093\u306e\u6301\u3063\u3066\u3044\u308b\u529b\u3092\u5f15\u304d\u51fa\u3057\u3001\u751f\u6d3b\u306e\u8cea\u3092\u9ad8\u3081\u308b\u3053\u3068\u306f\u5341\u5206\u306b\u53ef\u80fd\u3067\u3059\u3002\u8a3a\u65ad\u3084\u4eca\u5f8c\u306e\u898b\u901a\u3057\u306b\u3064\u3044\u3066\u306f\u3001\u5c0f\u5150\u795e\u7d4c\u79d1\u3084\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u5c02\u9580\u5bb6\u306b\u76f8\u8ac7\u3057\u306a\u304c\u3089\u9032\u3081\u3066\u3044\u304f\u3053\u3068\u3092\u304a\u52e7\u3081\u3057\u307e\u3059\u3002<\/p><\/div>\n\n\n\n<div style=\"border:1px solid #e8608a;border-radius:8px;background:#fff5f8;padding:4% 5%;margin:1rem 0 2.5rem;\">\n<p style=\"font-weight:bold;font-size:1.05em;margin-top:0;\">\u3053\u306e\u8a18\u4e8b\u3067\u308f\u304b\u308b\u3053\u3068<\/p>\n<ul style=\"margin-bottom:0;\">\n<li>CDCBM5\uff08TUBB2A\u95a2\u9023\u8133\u5f62\u6210\u7570\u5e38\uff09\u3068\u3044\u3046\u75c5\u540d\u306e\u610f\u5473\u3068\u3001\u8133\u3067\u4f55\u304c\u8d77\u304d\u3066\u3044\u308b\u306e\u304b<\/li>\n<li>\u8133\u306e\u69cb\u9020\u7684\u7279\u5fb4\u30fb\u795e\u7d4c\u5b66\u7684\u75c7\u72b6\u30fb\u767a\u9054\u306e\u7279\u5fb4\u3068\u3044\u30463\u3064\u306e\u5074\u9762\u304b\u3089\u898b\u305f\u4e3b\u306a\u75c7\u72b6<\/li>\n<li>TUBB2A\u907a\u4f1d\u5b50\u306e\u5f79\u5272\u3068\u3001\u591a\u304f\u304c\u65b0\u751f\u7a81\u7136\u5909\u7570\uff08de novo\uff09\u306b\u3088\u308b\u3053\u3068<\/li>\n<li>MRI\u30fb\u8133\u6ce2\u30fb\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u306b\u3088\u308b\u8a3a\u65ad\u306e\u6d41\u308c\u3068\u3001\u4ed6\u306e\u30c1\u30e5\u30fc\u30d6\u30ea\u30f3\u75c7\u3068\u306e\u9055\u3044<\/li>\n<li>\u3066\u3093\u304b\u3093\u6cbb\u7642\u3084\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u306a\u3069\u3001\u4eca\u3067\u304d\u308b\u30b5\u30dd\u30fc\u30c8\u3068\u76f8\u8ac7\u5148<\/li>\n<\/ul>\n<\/div>\n\n\n\n\n\n\n<p>\u533b\u5e2b\u304b\u3089Cortical Dysplasia, Complex, with Other Brain Malformations 5\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>\u751f\u307e\u308c\u305f\u3070\u304b\u308a\u306e\u8d64\u3061\u3083\u3093\u3001\u3042\u308b\u3044\u306f\u4e73\u5e7c\u5150\u671f\u306e\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\u5831\u544a\u6570\u304c\u5c11\u306a\u304f\u3001\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\u5c0f\u5150\u795e\u7d4c\u3084\u907a\u4f1d\u306e\u5c02\u9580\u5bb6\u3067\u306a\u3051\u308c\u3070\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>\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u73fe\u5834\u3067\u306f\u3001\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b5\u30fc\u306b\u3088\u308b\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u306e\u666e\u53ca\u306b\u3068\u3082\u306a\u3063\u3066\u3001\u3053\u3046\u3057\u305f\u6975\u3081\u3066\u5e0c\u5c11\u306a\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u306e\u8a3a\u65ad\u540d\u3092\u521d\u3081\u3066\u8033\u306b\u3059\u308b\u3054\u5bb6\u65cf\u304b\u3089\u306e\u3054\u76f8\u8ac7\u304c\u5897\u3048\u3066\u304d\u305f\u3068\u611f\u3058\u3066\u3044\u307e\u3059\u3002\u9577\u3044\u8a3a\u65ad\u540d\u3092\u524d\u306b\u7acb\u3061\u3059\u304f\u3093\u3067\u3057\u307e\u3046\u304a\u6c17\u6301\u3061\u306f\u3001\u3068\u3066\u3082\u81ea\u7136\u306a\u3053\u3068\u3067\u3059\u3002<\/p>\n\n\n\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_85 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">\u76ee\u6b21<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 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\" 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>\u307e\u305a\u7d50\u8ad6\u304b\u3089\uff5cCDCBM5\uff08TUBB2A\u95a2\u9023\u8133\u5f62\u6210\u7570\u5e38\uff09\u3068\u306f\u3069\u306e\u3088\u3046\u306a\u75c5\u6c17\u304b<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cortical-dysplasia-complex-brain-malformations-5-tubb2a-guide\/#%E7%97%85%E5%90%8D%E3%81%AE%E6%84%8F%E5%91%B3%E3%82%92%E5%88%86%E8%A7%A3%E3%81%97%E3%81%A6%E7%90%86%E8%A7%A3%E3%81%99%E3%82%8B%EF%BD%9C%E8%84%B3%E7%9A%AE%E8%B3%AA%E7%95%B0%E5%BD%A2%E6%88%90%E3%83%BB%E8%A4%87%E5%90%88%E4%BD%93%E3%83%BB5%E5%9E%8B%E3%81%A8%E3%81%AF\" >\u75c5\u540d\u306e\u610f\u5473\u3092\u5206\u89e3\u3057\u3066\u7406\u89e3\u3059\u308b\uff5c\u8133\u76ae\u8cea\u7570\u5f62\u6210\u30fb\u8907\u5408\u4f53\u30fb5\u578b\u3068\u306f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cortical-dysplasia-complex-brain-malformations-5-tubb2a-guide\/#%E4%B8%BB%E3%81%AA%E7%97%87%E7%8A%B6%EF%BD%9C%E8%84%B3%E3%81%AE%E6%A7%8B%E9%80%A0%E3%83%BB%E7%A5%9E%E7%B5%8C%E5%AD%A6%E7%9A%84%E6%89%80%E8%A6%8B%E3%83%BB%E7%99%BA%E9%81%94%E3%81%AE%E7%89%B9%E5%BE%B4\" >\u4e3b\u306a\u75c7\u72b6\uff5c\u8133\u306e\u69cb\u9020\u30fb\u795e\u7d4c\u5b66\u7684\u6240\u898b\u30fb\u767a\u9054\u306e\u7279\u5fb4<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cortical-dysplasia-complex-brain-malformations-5-tubb2a-guide\/#1_%E8%84%B3%E3%81%AE%E6%A7%8B%E9%80%A0%E7%9A%84%E3%81%AA%E7%89%B9%E5%BE%B4%EF%BC%88%E7%94%BB%E5%83%8F%E6%A4%9C%E6%9F%BB%E3%81%A7%E3%82%8F%E3%81%8B%E3%82%8B%E3%81%93%E3%81%A8%EF%BC%89\" >1. \u8133\u306e\u69cb\u9020\u7684\u306a\u7279\u5fb4\uff08\u753b\u50cf\u691c\u67fb\u3067\u308f\u304b\u308b\u3053\u3068\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cortical-dysplasia-complex-brain-malformations-5-tubb2a-guide\/#2_%E7%A5%9E%E7%B5%8C%E5%AD%A6%E7%9A%84%E3%81%AA%E7%97%87%E7%8A%B6\" >2. \u795e\u7d4c\u5b66\u7684\u306a\u75c7\u72b6<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cortical-dysplasia-complex-brain-malformations-5-tubb2a-guide\/#3_%E7%99%BA%E9%81%94%E3%81%A8%E7%9F%A5%E8%83%BD%E3%81%AE%E7%89%B9%E5%BE%B4\" >3. \u767a\u9054\u3068\u77e5\u80fd\u306e\u7279\u5fb4<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cortical-dysplasia-complex-brain-malformations-5-tubb2a-guide\/#4_%E3%81%9D%E3%81%AE%E4%BB%96%E3%81%AE%E8%BA%AB%E4%BD%93%E7%9A%84%E3%81%AA%E7%89%B9%E5%BE%B4\" >4. 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cortical-dysplasia-complex-brain-malformations-5-tubb2a-guide\/#%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AE%E5%A4%89%E5%8C%96%E3%81%8C%E3%82%82%E3%81%9F%E3%82%89%E3%81%99%E5%BD%B1%E9%9F%BF\" >\u907a\u4f1d\u5b50\u306e\u5909\u5316\u304c\u3082\u305f\u3089\u3059\u5f71\u97ff<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cortical-dysplasia-complex-brain-malformations-5-tubb2a-guide\/#%E9%81%BA%E4%BC%9D%E3%81%AB%E3%81%A4%E3%81%84%E3%81%A6%EF%BD%9C%E5%A4%9A%E3%81%8F%E3%81%AF%E6%96%B0%E7%94%9F%E7%AA%81%E7%84%B6%E5%A4%89%E7%95%B0%EF%BC%88de_novo%EF%BC%89\" >\u907a\u4f1d\u306b\u3064\u3044\u3066\uff5c\u591a\u304f\u306f\u65b0\u751f\u7a81\u7136\u5909\u7570\uff08de novo\uff09<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-12\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cortical-dysplasia-complex-brain-malformations-5-tubb2a-guide\/#%E8%A8%BA%E6%96%AD%E3%81%A8%E6%A4%9C%E6%9F%BB%E3%81%AE%E6%B5%81%E3%82%8C%EF%BD%9CMRI%E3%83%BB%E8%84%B3%E6%B3%A2%E3%83%BB%E9%81%BA%E4%BC%9D%E5%AD%A6%E7%9A%84%E6%A4%9C%E6%9F%BB\" >\u8a3a\u65ad\u3068\u691c\u67fb\u306e\u6d41\u308c\uff5cMRI\u30fb\u8133\u6ce2\u30fb\u907a\u4f1d\u5b66\u7684\u691c\u67fb<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-13\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cortical-dysplasia-complex-brain-malformations-5-tubb2a-guide\/#1_%E7%94%BB%E5%83%8F%E6%A4%9C%E6%9F%BB%EF%BC%88MRI%EF%BC%89\" >1. \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\/cortical-dysplasia-complex-brain-malformations-5-tubb2a-guide\/#2_%E8%84%B3%E6%B3%A2%E6%A4%9C%E6%9F%BB\" >2. 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class=\"ez-toc-link ez-toc-heading-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cortical-dysplasia-complex-brain-malformations-5-tubb2a-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-18\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cortical-dysplasia-complex-brain-malformations-5-tubb2a-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-19\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cortical-dysplasia-complex-brain-malformations-5-tubb2a-guide\/#3_%E6%A0%84%E9%A4%8A%E3%81%A8%E5%91%BC%E5%90%B8%E3%81%AE%E7%AE%A1%E7%90%86\" >3. \u6804\u990a\u3068\u547c\u5438\u306e\u7ba1\u7406<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-20\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cortical-dysplasia-complex-brain-malformations-5-tubb2a-guide\/#4_%E6%95%B4%E5%BD%A2%E5%A4%96%E7%A7%91%E7%9A%84%E3%82%B1%E3%82%A2\" >4. \u6574\u5f62\u5916\u79d1\u7684\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-21\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cortical-dysplasia-complex-brain-malformations-5-tubb2a-guide\/#%E4%BC%BC%E3%81%9F%E5%90%8D%E5%89%8D%E3%81%AE%E7%97%85%E6%B0%97%E3%81%A8%E3%81%AE%E9%81%95%E3%81%84%EF%BD%9CCDCBM6%E3%83%BB%E6%BB%91%E8%84%B3%E7%97%873%E5%9E%8B%E3%83%BBH-ABC%E7%97%87%E5%80%99%E7%BE%A4\" 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cortical-dysplasia-complex-brain-malformations-5-tubb2a-guide\/#Q_%E7%99%BA%E9%81%94%E3%81%AE%E8%A6%8B%E9%80%9A%E3%81%97%E3%81%AF%E3%81%A9%E3%81%AE%E7%A8%8B%E5%BA%A6%E3%81%A7%E3%81%99%E3%81%8B%EF%BC%9F\" >Q. \u767a\u9054\u306e\u898b\u901a\u3057\u306f\u3069\u306e\u7a0b\u5ea6\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-29\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cortical-dysplasia-complex-brain-malformations-5-tubb2a-guide\/#Q_%E5%90%8C%E3%81%98%E3%80%8C%E8%A4%87%E5%90%88%E4%BD%93%E3%80%8D%E3%81%A8%E5%90%8D%E3%81%AE%E3%81%A4%E3%81%8FCDCBM6%E3%81%A8%E3%81%AF%E3%81%A9%E3%81%86%E9%81%95%E3%81%84%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\" >Q. \u540c\u3058\u300c\u8907\u5408\u4f53\u300d\u3068\u540d\u306e\u3064\u304fCDCBM6\u3068\u306f\u3069\u3046\u9055\u3044\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-30\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cortical-dysplasia-complex-brain-malformations-5-tubb2a-guide\/#Q_%E5%AE%B6%E6%97%8F%E3%81%A8%E3%81%97%E3%81%A6%E3%81%BE%E3%81%9A%E4%BD%95%E3%82%92%E3%81%99%E3%82%8C%E3%81%B0%E3%82%88%E3%81%84%E3%81%A7%E3%81%99%E3%81%8B%EF%BC%9F\" >Q. \u5bb6\u65cf\u3068\u3057\u3066\u307e\u305a\u4f55\u3092\u3059\u308c\u3070\u3088\u3044\u3067\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-31\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cortical-dysplasia-complex-brain-malformations-5-tubb2a-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=\"%E3%81%BE%E3%81%9A%E7%B5%90%E8%AB%96%E3%81%8B%E3%82%89%EF%BD%9CCDCBM5%EF%BC%88TUBB2A%E9%96%A2%E9%80%A3%E8%84%B3%E5%BD%A2%E6%88%90%E7%95%B0%E5%B8%B8%EF%BC%89%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>\u307e\u305a\u7d50\u8ad6\u304b\u3089\uff5cCDCBM5\uff08TUBB2A\u95a2\u9023\u8133\u5f62\u6210\u7570\u5e38\uff09\u3068\u306f\u3069\u306e\u3088\u3046\u306a\u75c5\u6c17\u304b<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>CDCBM5\u306f\u3001TUBB2A\u907a\u4f1d\u5b50\u306e\u5909\u5316\u306b\u3088\u3063\u3066\u3001\u8133\u304c\u4f5c\u3089\u308c\u308b\u904e\u7a0b\u3067\u795e\u7d4c\u7d30\u80de\u304c\u3046\u307e\u304f\u79fb\u52d5\u3067\u304d\u305a\u3001\u5927\u8133\u76ae\u8cea\u3084\u5927\u8133\u57fa\u5e95\u6838\u306a\u3069\u306e\u69cb\u9020\u306b\u7279\u5fb4\u7684\u306a\u5909\u5316\u304c\u751f\u3058\u308b\u5148\u5929\u6027\u306e\u75be\u60a3\u3067\u3059\u3002<\/strong>\u9577\u3044\u8a3a\u65ad\u540d\u3092\u65e5\u672c\u8a9e\u306b\u8a33\u3059\u3068\u3001\u8133\u76ae\u8cea\u7570\u5f62\u6210\u3068\u4ed6\u306e\u8133\u5947\u5f62\u3092\u4f34\u3046\u8907\u5408\u4f535\u578b\u3068\u306a\u308a\u307e\u3059\u3002\u533b\u7642\u73fe\u5834\u3084\u533b\u5b66\u8ad6\u6587\u3067\u306f\u3001\u982d\u6587\u5b57\u3092\u3068\u3063\u3066CDCBM5\uff08\u30b7\u30fc\u30fb\u30c7\u30a3\u30fc\u30fb\u30b7\u30fc\u30fb\u30d3\u30fc\u30fb\u30a8\u30e0\u30fb\u30d5\u30a1\u30a4\u30d6\uff09\u3068\u547c\u3070\u308c\u308b\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306f\u3001\u304a\u6bcd\u3055\u3093\u306e\u304a\u8179\u306e\u4e2d\u3067\u8133\u304c\u4f5c\u3089\u308c\u308b\u904e\u7a0b\u306b\u304a\u3044\u3066\u3001\u795e\u7d4c\u7d30\u80de\u306e\u4e26\u3073\u65b9\u3084\u8133\u306e\u69cb\u9020\u306e\u5f62\u6210\u306b\u4f55\u3089\u304b\u306e\u5909\u5316\u304c\u751f\u3058\u305f\u72b6\u614b\u3067\u3059\u3002\u305d\u306e\u539f\u56e0\u3068\u3057\u3066\u3001TUBB2A\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\u5947\u5f62\u3068\u3044\u3046\u8a00\u8449\u30845\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\u5358\u306b\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<\/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=\"%E7%97%85%E5%90%8D%E3%81%AE%E6%84%8F%E5%91%B3%E3%82%92%E5%88%86%E8%A7%A3%E3%81%97%E3%81%A6%E7%90%86%E8%A7%A3%E3%81%99%E3%82%8B%EF%BD%9C%E8%84%B3%E7%9A%AE%E8%B3%AA%E7%95%B0%E5%BD%A2%E6%88%90%E3%83%BB%E8%A4%87%E5%90%88%E4%BD%93%E3%83%BB5%E5%9E%8B%E3%81%A8%E3%81%AF\"><\/span>\u75c5\u540d\u306e\u610f\u5473\u3092\u5206\u89e3\u3057\u3066\u7406\u89e3\u3059\u308b\uff5c\u8133\u76ae\u8cea\u7570\u5f62\u6210\u30fb\u8907\u5408\u4f53\u30fb5\u578b\u3068\u306f<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u9577\u3044\u8a3a\u65ad\u540d\u306f\u300c\u8133\u76ae\u8cea\u7570\u5f62\u6210\u300d\u300c\u4ed6\u306e\u8133\u5947\u5f62\u3092\u4f34\u3046\u300d\u300c\u8907\u5408\u4f53\u300d\u300c5\u578b\u300d\u3068\u3044\u30464\u3064\u306e\u8981\u7d20\u306b\u5206\u89e3\u3059\u308b\u3068\u7406\u89e3\u3057\u3084\u3059\u304f\u306a\u308a\u307e\u3059\u3002<\/strong>\u305d\u308c\u305e\u308c\u306e\u610f\u5473\u3092\u9806\u756a\u306b\u898b\u3066\u3044\u304d\u307e\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<p>\u8133\u76ae\u8cea\u7570\u5f62\u6210\u3068\u306f<br>\u8133\u306e\u8868\u9762\u306b\u306f\u3001\u795e\u7d4c\u7d30\u80de\u304c\u6574\u7136\u3068\u5c64\u3092\u306a\u3057\u3066\u4e26\u3093\u3067\u3044\u307e\u3059\u3002\u3053\u308c\u3092\u5927\u8133\u76ae\u8cea\u3068\u3044\u3044\u307e\u3059\u3002\u8133\u304c\u767a\u9054\u3059\u308b\u904e\u7a0b\u3067\u3001\u795e\u7d4c\u7d30\u80de\u306f\u8133\u306e\u6df1\u90e8\u3067\u751f\u307e\u308c\u3001\u8868\u9762\u306b\u5411\u304b\u3063\u3066\u79fb\u52d5\u3057\u3001\u6b63\u3057\u3044\u5834\u6240\u306b\u6574\u5217\u3057\u307e\u3059\u3002\u3053\u306e\u30d7\u30ed\u30bb\u30b9\u3092\u795e\u7d4c\u7d30\u80de\u79fb\u52d5\u3068\u3044\u3044\u307e\u3059\u3002<br>\u3053\u306e\u79fb\u52d5\u3084\u6574\u5217\u304c\u3046\u307e\u304f\u3044\u304b\u305a\u3001\u5c64\u69cb\u9020\u304c\u4e71\u308c\u305f\u308a\u3001\u8133\u306e\u3057\u308f\u304c\u539a\u304f\u306a\u3063\u305f\u308a\u3001\u3042\u308b\u3044\u306f\u3057\u308f\u304c\u306a\u304f\u306a\u3063\u3066\u3064\u308b\u3064\u308b\u306b\u306a\u3063\u305f\u308a\u3059\u308b\u72b6\u614b\u3092\u3001\u8133\u76ae\u8cea\u7570\u5f62\u6210\u3068\u3044\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4ed6\u306e\u8133\u5947\u5f62\u3092\u4f34\u3046\u3068\u306f<br>CDCBM5\u3067\u306f\u3001\u5927\u8133\u76ae\u8cea\u3060\u3051\u3067\u306a\u304f\u3001\u4ed6\u306e\u90e8\u5206\u306b\u3082\u69cb\u9020\u7684\u306a\u7279\u5fb4\u304c\u898b\u3089\u308c\u307e\u3059\u3002\u7279\u306b\u3088\u304f\u898b\u3089\u308c\u308b\u306e\u304c\u3001\u5927\u8133\u57fa\u5e95\u6838\u3068\u547c\u3070\u308c\u308b\u904b\u52d5\u306e\u8abf\u6574\u306b\u95a2\u308f\u308b\u90e8\u5206\u306e\u5f62\u6210\u7570\u5e38\u3084\u3001\u53f3\u8133\u3068\u5de6\u8133\u3092\u3064\u306a\u3050\u8133\u6881\u306e\u5f62\u6210\u4e0d\u5168\u3001\u5c0f\u8133\u306e\u4f4e\u5f62\u6210\u306a\u3069\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u8907\u5408\u4f53\u3068\u306f<br>\u3053\u308c\u3089\u306e\u75c7\u72b6\u304c\u7d44\u307f\u5408\u308f\u3055\u3063\u3066\u73fe\u308c\u308b\u75c7\u5019\u7fa4\u3067\u3042\u308b\u3053\u3068\u3092\u610f\u5473\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>5\u578b\u3068\u306f<br>CDCBM\u306b\u306f\u539f\u56e0\u3068\u306a\u308b\u907a\u4f1d\u5b50\u306b\u3088\u3063\u3066\u3044\u304f\u3064\u304b\u306e\u30bf\u30a4\u30d7\u304c\u3042\u308a\u3001TUBB2A\u3068\u3044\u3046\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308b\u3082\u306e\u304c5\u578b\u3068\u5206\u985e\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u306eTUBB2A\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308b\u75c5\u6c17\u306f\u3001\u30c1\u30e5\u30fc\u30d6\u30ea\u30f3\u75c7\uff08Tubulinopathy\uff09\u3068\u3044\u3046\u5927\u304d\u306a\u30b0\u30eb\u30fc\u30d7\u306b\u3082\u5c5e\u3057\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u306f\u3001\u7d30\u80de\u306e\u9aa8\u7d44\u307f\u3092\u4f5c\u308b\u30c1\u30e5\u30fc\u30d6\u30ea\u30f3\u3068\u3044\u3046\u30bf\u30f3\u30d1\u30af\u8cea\u306b\u95a2\u9023\u3059\u308b\u907a\u4f1d\u5b50\u306e\u75c5\u6c17\u306e\u7dcf\u79f0\u3067\u3059\u3002<\/p>\n\n\n\n<figure class=\"wp-block-image aligncenter\" style=\"margin:1.5rem auto;\">\n<svg role=\"img\" aria-label=\"\u30c1\u30e5\u30fc\u30d6\u30ea\u30f3\u75c7\uff08Tubulinopathy\uff09\u3068\u3044\u3046\u5927\u304d\u306a\u30b0\u30eb\u30fc\u30d7\u306e\u4e2d\u306b\u3001\u539f\u56e0\u907a\u4f1d\u5b50\u3054\u3068\u306bCDCBM5\uff08TUBB2A\uff09\u3001CDCBM6\u3001\u6ed1\u8133\u75c73\u578b\uff08TUBA1A\uff09\u3001H-ABC\u75c7\u5019\u7fa4\u306a\u3069\u306e\u30bf\u30a4\u30d7\u304c\u542b\u307e\u308c\u308b\u3053\u3068\u3092\u793a\u3059\u56f3\" viewBox=\"0 0 720 320\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" style=\"max-width:720px;width:100%;height:auto;font-family:sans-serif;\">\n  <rect x=\"0\" y=\"0\" width=\"720\" height=\"320\" fill=\"#fff9fb\"\/>\n  <text x=\"360\" y=\"35\" text-anchor=\"middle\" font-size=\"19\" fill=\"#5a2b3a\">\u30c1\u30e5\u30fc\u30d6\u30ea\u30f3\u75c7\uff08Tubulinopathy\uff09\u3068\u3044\u3046\u5927\u304d\u306a\u67a0\u7d44\u307f<\/text>\n  <rect x=\"30\" y=\"60\" width=\"660\" height=\"50\" 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fill=\"#5a2b3a\">\u5225\u306e\u539f\u56e0\u907a\u4f1d\u5b50<\/text>\n  <rect x=\"370\" y=\"140\" width=\"160\" height=\"90\" rx=\"10\" fill=\"#fbe1eb\"\/>\n  <text x=\"450\" y=\"175\" text-anchor=\"middle\" font-size=\"14\" fill=\"#5a2b3a\">\u6ed1\u8133\u75c73\u578b<\/text>\n  <text x=\"450\" y=\"195\" text-anchor=\"middle\" font-size=\"12\" fill=\"#5a2b3a\">TUBA1A\u5909\u7570<\/text>\n  <rect x=\"540\" y=\"140\" width=\"150\" height=\"90\" rx=\"10\" fill=\"#fbe1eb\"\/>\n  <text x=\"615\" y=\"175\" text-anchor=\"middle\" font-size=\"14\" fill=\"#5a2b3a\">H-ABC\u75c7\u5019\u7fa4<\/text>\n  <text x=\"615\" y=\"195\" text-anchor=\"middle\" font-size=\"12\" fill=\"#5a2b3a\">\u767d\u8cea\u306e\u5f62\u6210\u4e0d\u5168<\/text>\n  <text x=\"360\" y=\"270\" text-anchor=\"middle\" font-size=\"13\" fill=\"#9a6070\">\u539f\u56e0\u3068\u306a\u308b\u907a\u4f1d\u5b50\u306f\u7570\u306a\u308a\u307e\u3059\u304c\u3001\u3044\u305a\u308c\u3082\u8133\u306e\u795e\u7d4c\u7d30\u80de\u306e\u300c\u9aa8\u7d44\u307f\u300d\u3067\u3042\u308b\u30c1\u30e5\u30fc\u30d6\u30ea\u30f3\u306b\u95a2\u308f\u308b\u75c5\u6c17\u3067\u3059<\/text>\n<\/svg>\n<figcaption>\u30c1\u30e5\u30fc\u30d6\u30ea\u30f3\u75c7\u3068\u3044\u3046\u5927\u304d\u306a\u67a0\u7d44\u307f\u306e\u4e2d\u3067\u306eCDCBM5\u306e\u4f4d\u7f6e\u3065\u3051<\/figcaption>\n<\/figure>\n\n\n\n<p>\u3064\u307e\u308a\u3001CDCBM5\u306fTUBB2A\u907a\u4f1d\u5b50\u306e\u5909\u5316\u306b\u3088\u308a\u3001\u5927\u8133\u306e\u5f62\u3084\u69cb\u9020\u304c\u3046\u307e\u304f\u4f5c\u3089\u308c\u305a\u3001\u305d\u308c\u306b\u3088\u3063\u3066\u767a\u9054\u306e\u9045\u308c\u3084\u3066\u3093\u304b\u3093\u306a\u3069\u306e\u75c7\u72b6\u304c\u73fe\u308c\u308b\u75c5\u6c17\u3067\u3059\u3002\u4f3c\u305f\u540d\u524d\u306e\u75c5\u6c17\u3068\u306e\u9055\u3044\u306f\u3001\u8a18\u4e8b\u306e\u5f8c\u534a\u3067\u6539\u3081\u3066\u6574\u7406\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%B8%BB%E3%81%AA%E7%97%87%E7%8A%B6%EF%BD%9C%E8%84%B3%E3%81%AE%E6%A7%8B%E9%80%A0%E3%83%BB%E7%A5%9E%E7%B5%8C%E5%AD%A6%E7%9A%84%E6%89%80%E8%A6%8B%E3%83%BB%E7%99%BA%E9%81%94%E3%81%AE%E7%89%B9%E5%BE%B4\"><\/span>\u4e3b\u306a\u75c7\u72b6\uff5c\u8133\u306e\u69cb\u9020\u30fb\u795e\u7d4c\u5b66\u7684\u6240\u898b\u30fb\u767a\u9054\u306e\u7279\u5fb4<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>CDCBM5\u306e\u75c7\u72b6\u306f\u3001\u8133\u306e\u69cb\u9020\u7684\u306a\u7279\u5fb4\u3001\u795e\u7d4c\u5b66\u7684\u306a\u75c7\u72b6\u3001\u767a\u9054\u306e\u7279\u5fb4\u3068\u3044\u30463\u3064\u306e\u5074\u9762\u306b\u5927\u304d\u304f\u5206\u3051\u3089\u308c\u3001\u304a\u5b50\u3055\u3093\u306b\u3088\u3063\u3066\u91cd\u3055\u3084\u51fa\u65b9\u306f\u3055\u307e\u3056\u307e\u3067\u3059\u3002<\/strong>\u3053\u308c\u307e\u3067\u306b\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u4ee3\u8868\u7684\u306a\u7279\u5fb4\u306b\u3064\u3044\u3066\u3001\u9806\u756a\u306b\u898b\u3066\u3044\u304d\u307e\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<figure class=\"wp-block-table\"><table><thead><tr><th>\u75c7\u72b6\u306e\u30ab\u30c6\u30b4\u30ea<\/th><th>\u5177\u4f53\u7684\u306b\u307f\u3089\u308c\u308b\u7279\u5fb4<\/th><th>\u6c17\u3065\u304b\u308c\u3084\u3059\u3044\u6642\u671f<\/th><\/tr><\/thead><tbody><tr><td>\u8133\u306e\u69cb\u9020\uff08\u753b\u50cf\u6240\u898b\uff09<\/td><td>\u539a\u8133\u56de\u30fb\u591a\u5c0f\u8133\u56de\u3001\u5927\u8133\u57fa\u5e95\u6838\u306e\u7570\u5f62\u6210\u3001\u8133\u6881\u306e\u4f4e\u5f62\u6210\u3001\u5c0f\u8133\u3084\u8133\u5e79\u306e\u4f4e\u5f62\u6210<\/td><td>\u51fa\u751f\u524d\u5f8c\u306eMRI\u3067\u5224\u660e\u3059\u308b\u3053\u3068\u304c\u591a\u3044<\/td><\/tr><tr><td>\u795e\u7d4c\u5b66\u7684\u306a\u75c7\u72b6<\/td><td>\u3066\u3093\u304b\u3093\u767a\u4f5c\u3001\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u304b\u3089\u75d9\u7e2e\u3078\u306e\u5909\u5316\u3001\u5c0f\u982d\u75c7<\/td><td>\u4e73\u5150\u671f\u304b\u3089\u5e7c\u5150\u671f<\/td><\/tr><tr><td>\u767a\u9054\u30fb\u77e5\u80fd\u306e\u7279\u5fb4<\/td><td>\u904b\u52d5\u767a\u9054\u306e\u9045\u308c\u3001\u91cd\u5ea6\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3092\u4f34\u3046\u3053\u3068\u304c\u4e00\u822c\u7684<\/td><td>\u4e73\u5e7c\u5150\u5065\u8a3a\u3092\u901a\u3058\u3066\u7d4c\u904e\u3068\u3068\u3082\u306b\u660e\u3089\u304b\u306b\u306a\u308b<\/td><\/tr><tr><td>\u305d\u306e\u4ed6\u306e\u8eab\u4f53\u75c7\u72b6<\/td><td>\u659c\u8996\u30fb\u773c\u632f\u3001\u76ae\u8cea\u8996\u899a\u969c\u5bb3\u3001\u9854\u3064\u304d\u306e\u7279\u5fb4<\/td><td>\u4e73\u5150\u671f\u4ee5\u964d<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E8%84%B3%E3%81%AE%E6%A7%8B%E9%80%A0%E7%9A%84%E3%81%AA%E7%89%B9%E5%BE%B4%EF%BC%88%E7%94%BB%E5%83%8F%E6%A4%9C%E6%9F%BB%E3%81%A7%E3%82%8F%E3%81%8B%E3%82%8B%E3%81%93%E3%81%A8%EF%BC%89\"><\/span>1. \u8133\u306e\u69cb\u9020\u7684\u306a\u7279\u5fb4\uff08\u753b\u50cf\u691c\u67fb\u3067\u308f\u304b\u308b\u3053\u3068\uff09<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p><strong>MRI\u691c\u67fb\u3067\u5206\u304b\u308b\u8133\u306e\u5f62\u306e\u7279\u5fb4\u306f\u3001CDCBM5\u306e\u8a3a\u65ad\u306b\u304a\u3051\u308b\u6700\u3082\u91cd\u8981\u306a\u624b\u304c\u304b\u308a\u3067\u3059\u3002<\/strong>\u5177\u4f53\u7684\u306b\u3069\u306e\u3088\u3046\u306a\u6240\u898b\u304c\u898b\u3089\u308c\u308b\u306e\u304b\u3001\u4ee3\u8868\u7684\u306a\u3082\u306e\u3092\u78ba\u8a8d\u3057\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5358\u7d14\u5316\u3055\u308c\u305f\u8133\u56de\uff08\u3057\u308f\uff09<br>\u8133\u306e\u8868\u9762\u306e\u3057\u308f\u304c\u5c11\u306a\u304f\u3001\u5e45\u304c\u5e83\u304f\u306a\u3063\u3066\u3044\u308b\u72b6\u614b\u304c\u898b\u3089\u308c\u307e\u3059\u3002\u3053\u308c\u3092\u539a\u8133\u56de\uff08\u3053\u3046\u306e\u3046\u304b\u3044\uff09\u3084\u3001\u90e8\u5206\u7684\u306a\u6ed1\u8133\u75c7\uff08\u304b\u3064\u306e\u3046\u3057\u3087\u3046\uff09\u3068\u547c\u3076\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u307e\u305f\u3001\u9006\u306b\u975e\u5e38\u306b\u7d30\u304b\u3044\u305f\u304f\u3055\u3093\u306e\u5c0f\u3055\u306a\u3057\u308f\u304c\u3067\u304d\u308b\u591a\u5c0f\u8133\u56de\uff08\u305f\u3057\u3087\u3046\u306e\u3046\u304b\u3044\uff09\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u3089\u306f\u3001\u795e\u7d4c\u7d30\u80de\u304c\u6b63\u3057\u3044\u5834\u6240\u306b\u305f\u3069\u308a\u7740\u3051\u306a\u304b\u3063\u305f\u3053\u3068\u3092\u793a\u3059\u6240\u898b\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u5927\u8133\u57fa\u5e95\u6838\u306e\u7570\u5f62\u6210<br>\u8133\u306e\u5965\u6df1\u304f\u306b\u3042\u308b\u5927\u8133\u57fa\u5e95\u6838\u3068\u3044\u3046\u90e8\u5206\uff08\u5c3e\u72b6\u6838\u3001\u88ab\u6bbb\u3001\u6de1\u84bc\u7403\u306a\u3069\uff09\u304c\u878d\u5408\u3057\u3066\u3044\u305f\u308a\u3001\u5f62\u304c\u3044\u3073\u3064\u3060\u3063\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u306f\u30c1\u30e5\u30fc\u30d6\u30ea\u30f3\u75c7\u306b\u7279\u6709\u306e\u6240\u898b\u306e\u4e00\u3064\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8133\u6881\u306e\u4f4e\u5f62\u6210<br>\u53f3\u8133\u3068\u5de6\u8133\u3092\u3064\u306a\u3050\u8133\u6881\u304c\u8584\u3044\u3001\u3042\u308b\u3044\u306f\u77ed\u3044\u3068\u3044\u3063\u305f\u7279\u5fb4\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5c0f\u8133\u3084\u8133\u5e79\u306e\u4f4e\u5f62\u6210<br>\u30d0\u30e9\u30f3\u30b9\u3092\u53f8\u308b\u5c0f\u8133\u3084\u3001\u751f\u547d\u7dad\u6301\u306b\u95a2\u308f\u308b\u8133\u5e79\u304c\u5c0f\u3055\u3044\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E7%A5%9E%E7%B5%8C%E5%AD%A6%E7%9A%84%E3%81%AA%E7%97%87%E7%8A%B6\"><\/span>2. \u795e\u7d4c\u5b66\u7684\u306a\u75c7\u72b6<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p><strong>\u8133\u306e\u69cb\u9020\u306e\u5909\u5316\u306b\u3068\u3082\u306a\u3063\u3066\u3001\u3066\u3093\u304b\u3093\u767a\u4f5c\u3084\u7b4b\u7dca\u5f35\u306e\u7570\u5e38\u306a\u3069\u3001\u3055\u307e\u3056\u307e\u306a\u795e\u7d4c\u75c7\u72b6\u304c\u73fe\u308c\u307e\u3059\u3002<\/strong>\u9806\u3092\u8ffd\u3063\u3066\u898b\u3066\u3044\u304d\u307e\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<p>\u3066\u3093\u304b\u3093\u767a\u4f5c<br>\u591a\u304f\u306e\u60a3\u8005\u3055\u3093\u3067\u3066\u3093\u304b\u3093\u767a\u4f5c\u304c\u898b\u3089\u308c\u307e\u3059\u3002\u767a\u75c7\u6642\u671f\u306f\u4e73\u5150\u671f\u304b\u3089\u5e7c\u5150\u671f\u3068\u5e45\u5e83\u3044\u3067\u3059\u3002\u767a\u4f5c\u306e\u30bf\u30a4\u30d7\u3082\u69d8\u3005\u3067\u3001\u4f53\u306e\u4e00\u90e8\u304c\u30d4\u30af\u3064\u304f\u767a\u4f5c\u3001\u5168\u8eab\u304c\u786c\u76f4\u3059\u308b\u767a\u4f5c\u3001\u3066\u3093\u304b\u3093\u6027\u30b9\u30d1\u30ba\u30e0\uff08\u304a\u8f9e\u5100\u3092\u3059\u308b\u3088\u3046\u306a\u767a\u4f5c\uff09\u306a\u3069\u304c\u3042\u308a\u307e\u3059\u3002\u85ac\u3067\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3067\u304d\u308b\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u4e2d\u306b\u306f\u8907\u6570\u306e\u85ac\u3092\u4f7f\u3063\u3066\u3082\u767a\u4f5c\u304c\u6b62\u307e\u308a\u306b\u304f\u3044\u96e3\u6cbb\u6027\u3066\u3093\u304b\u3093\u3068\u306a\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7b4b\u7dca\u5f35\u306e\u7570\u5e38<br>\u8d64\u3061\u3083\u3093\u306e\u9803\u306f\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\u9996\u306e\u3059\u308f\u308a\u304c\u9045\u308c\u305f\u308a\u3057\u307e\u3059\u3002\u6210\u9577\u3068\u3068\u3082\u306b\u3001\u9006\u306b\u624b\u8db3\u306e\u7b4b\u8089\u304c\u7a81\u3063\u5f35\u3063\u3066\u786c\u304f\u306a\u308b\u75d9\u7e2e\uff08\u3051\u3044\u3057\u3085\u304f\uff09\u304c\u898b\u3089\u308c\u308b\u3088\u3046\u306b\u306a\u308a\u3001\u624b\u8db3\u306e\u81ea\u7531\u304c\u5229\u304d\u306b\u304f\u304f\u306a\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5c0f\u982d\u75c7<br>\u751f\u307e\u308c\u305f\u6642\u306e\u982d\u306e\u5927\u304d\u3055\u306f\u6b63\u5e38\u7bc4\u56f2\u5185\u3067\u3082\u3001\u6210\u9577\u3068\u3068\u3082\u306b\u982d\u56f2\uff08\u982d\u306e\u5927\u304d\u3055\uff09\u306e\u5897\u3048\u65b9\u304c\u7de9\u3084\u304b\u306b\u306a\u308a\u3001\u76f8\u5bfe\u7684\u306b\u982d\u304c\u5c0f\u3055\u304f\u306a\u308b\u5c0f\u982d\u75c7\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3088\u304f\u3042\u308a\u307e\u3059\u3002\u8133\u306e\u6210\u9577\u304c\u3086\u3063\u304f\u308a\u3067\u3042\u308b\u3053\u3068\u3092\u53cd\u6620\u3057\u305f\u6240\u898b\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E7%99%BA%E9%81%94%E3%81%A8%E7%9F%A5%E8%83%BD%E3%81%AE%E7%89%B9%E5%BE%B4\"><\/span>3. \u767a\u9054\u3068\u77e5\u80fd\u306e\u7279\u5fb4<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p><strong>\u8133\u5168\u4f53\u306e\u5f62\u6210\u306b\u95a2\u308f\u308b\u75c5\u6c17\u3067\u3042\u308b\u305f\u3081\u3001\u904b\u52d5\u9762\u30fb\u77e5\u7684\u306a\u767a\u9054\u3078\u306e\u5f71\u97ff\u306f\u907f\u3051\u3089\u308c\u307e\u305b\u3093\u304c\u3001\u305d\u306e\u7a0b\u5ea6\u306b\u306f\u5e45\u304c\u3042\u308a\u307e\u3059\u3002<\/strong><\/p>\n\n\n\n<p>\u91cd\u5ea6\u306e\u767a\u9054\u9045\u6ede<br>\u9996\u304c\u3059\u308f\u308b\u3001\u304a\u5ea7\u308a\u3092\u3059\u308b\u3001\u30cf\u30a4\u30cf\u30a4\u3092\u3059\u308b\u3001\u6b69\u304f\u3068\u3044\u3063\u305f\u904b\u52d5\u9762\u306e\u767a\u9054\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\u591a\u304f\u306e\u5834\u5408\u3001\u6b69\u884c\u306e\u7372\u5f97\u306b\u306f\u9577\u3044\u6642\u9593\u304c\u304b\u304b\u308b\u304b\u3001\u3042\u308b\u3044\u306f\u8eca\u6905\u5b50\u306a\u3069\u306e\u88dc\u52a9\u5177\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a><br>\u8a00\u8449\u306e\u7406\u89e3\u3084\u767a\u8a9e\u306a\u3069\u3001\u77e5\u7684\u306a\u767a\u9054\u306b\u3082\u9045\u308c\u304c\u898b\u3089\u308c\u307e\u3059\u3002\u91cd\u5ea6\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3092\u4f34\u3046\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\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\u8868\u60c5\u3084\u58f0\u306e\u30c8\u30fc\u30f3\u3001\u8eab\u632f\u308a\u306a\u3069\u3067\u611f\u60c5\u3092\u4f1d\u3048\u308b\u3053\u3068\u306f\u53ef\u80fd\u3067\u3059\u3002\u305f\u3060\u3057\u3001\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u75c7\u4f8b\u306b\u306f\u5e45\u304c\u3042\u308a\u3001\u3059\u3079\u3066\u306e\u304a\u5b50\u3055\u3093\u304c\u540c\u3058\u7d4c\u904e\u3092\u305f\u3069\u308b\u308f\u3051\u3067\u306f\u306a\u3044\u70b9\u306f\u3001\u6b63\u78ba\u306b\u304a\u4f1d\u3048\u3057\u3066\u304a\u304d\u305f\u3044\u3068\u601d\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E3%81%9D%E3%81%AE%E4%BB%96%E3%81%AE%E8%BA%AB%E4%BD%93%E7%9A%84%E3%81%AA%E7%89%B9%E5%BE%B4\"><\/span>4. \u305d\u306e\u4ed6\u306e\u8eab\u4f53\u7684\u306a\u7279\u5fb4<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8996\u899a\u7684\u306a\u554f\u984c<br>\u659c\u8996\uff08\u76ee\u306e\u4f4d\u7f6e\u304c\u305a\u308c\u308b\uff09\u3084\u773c\u632f\uff08\u9ed2\u76ee\u304c\u63fa\u308c\u308b\uff09\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u307e\u305f\u3001\u76ee\u305d\u306e\u3082\u306e\u306e\u69cb\u9020\u306b\u306f\u554f\u984c\u304c\u306a\u304f\u3066\u3082\u3001\u8133\u304c\u6620\u50cf\u3092\u51e6\u7406\u3059\u308b\u3053\u3068\u304c\u82e6\u624b\u306a\u305f\u3081\u306b\u3001\u3082\u306e\u3092\u898b\u308b\u3053\u3068\u304c\u96e3\u3057\u3044\u76ae\u8cea\u8996\u899a\u969c\u5bb3\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u9854\u3064\u304d\u306e\u7279\u5fb4<br>\u304a\u3067\u3053\u304c\u50be\u659c\u3057\u3066\u3044\u308b\u3001\u3042\u3054\u304c\u5c0f\u3055\u3044\u306a\u3069\u3001\u3044\u304f\u3064\u304b\u306e\u304a\u9854\u7acb\u3061\u306e\u7279\u5fb4\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u500b\u4eba\u5dee\u304c\u5927\u304d\u304f\u3001\u3054\u4e21\u89aa\u306b\u4f3c\u305f\u53ef\u611b\u3089\u3057\u3044\u304a\u9854\u3092\u3057\u3066\u3044\u308b\u304a\u5b50\u3055\u3093\u304c\u307b\u3068\u3093\u3069\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%BD%9CTUBB2A%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%A8%E7%A5%9E%E7%B5%8C%E7%B4%B0%E8%83%9E%E7%A7%BB%E5%8B%95%E3%81%AE%E4%BB%95%E7%B5%84%E3%81%BF\"><\/span>\u539f\u56e0\uff5cTUBB2A\u907a\u4f1d\u5b50\u3068\u795e\u7d4c\u7d30\u80de\u79fb\u52d5\u306e\u4ed5\u7d44\u307f<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>CDCBM5\u306e\u539f\u56e0\u306f\u3001\u8133\u3092\u4f5c\u308b\u305f\u3081\u306e\u7d30\u80de\u306e\u300c\u30ec\u30fc\u30eb\u300d\u3067\u3042\u308b\u30c1\u30e5\u30fc\u30d6\u30ea\u30f3\u3068\u3044\u3046\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u8a2d\u8a08\u56f3\u3001TUBB2A\u907a\u4f1d\u5b50\u306e\u5909\u5316\u306b\u3042\u308a\u307e\u3059\u3002<\/strong>\u306a\u305c\u8133\u306e\u5f62\u304c\u5909\u308f\u3063\u305f\u308a\u767a\u9054\u304c\u9045\u308c\u305f\u308a\u3059\u308b\u306e\u304b\u3001\u9806\u3092\u8ffd\u3063\u3066\u8aac\u660e\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"TUBB2A%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AE%E5%BD%B9%E5%89%B2\"><\/span>TUBB2A\u907a\u4f1d\u5b50\u306e\u5f79\u5272<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>CDCBM5\u306e\u539f\u56e0\u306f\u3001\u7b2c6\u756a\u67d3\u8272\u4f53\u306b\u3042\u308bTUBB2A\uff08\u30bf\u30d6\u30fb\u30d3\u30fc\u30fb\u30c4\u30fc\u30fb\u30a8\u30fc\uff09\u3068\u3044\u3046\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3067\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306f\u3001\u30d9\u30fc\u30bf\u30fb\u30c1\u30e5\u30fc\u30d6\u30ea\u30f3\u3068\u3044\u3046\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u4f5c\u308b\u305f\u3081\u306e\u8a2d\u8a08\u56f3\u3067\u3059\u3002\u30c1\u30e5\u30fc\u30d6\u30ea\u30f3\u306f\u3001\u7d30\u80de\u306e\u4e2d\u306b\u5fae\u5c0f\u7ba1\u3068\u3044\u3046\u975e\u5e38\u306b\u7d30\u3044\u7ba1\u3092\u4f5c\u308b\u6210\u5206\u3067\u3059\u3002\u3053\u306e\u5fae\u5c0f\u7ba1\u306f\u3001\u7d30\u80de\u306e\u9aa8\u7d44\u307f\u3068\u306a\u3063\u3066\u5f62\u3092\u4fdd\u3064\u5f79\u5272\u3060\u3051\u3067\u306a\u304f\u3001\u7d30\u80de\u306e\u4e2d\u3067\u7269\u8cea\u3092\u904b\u3093\u3060\u308a\u3001\u7d30\u80de\u81ea\u4f53\u304c\u52d5\u3044\u305f\u308a\u3059\u308b\u305f\u3081\u306e\u30ec\u30fc\u30eb\u306e\u3088\u3046\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8133\u304c\u4f5c\u3089\u308c\u308b\u6642\u671f\u306b\u306f\u3001\u795e\u7d4c\u7d30\u80de\u304c\u8133\u306e\u6df1\u90e8\u3067\u751f\u307e\u308c\u3001\u8868\u9762\u306b\u5411\u304b\u3063\u3066\u9577\u3044\u65c5\u3092\u3057\u307e\u3059\u3002\u3053\u306e\u6642\u3001\u795e\u7d4c\u7d30\u80de\u306f\u3053\u306e\u5fae\u5c0f\u7ba1\u3068\u3044\u3046\u30ec\u30fc\u30eb\u3092\u4f7f\u3063\u3066\u79fb\u52d5\u3059\u308b\u306e\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%8C%E3%82%82%E3%81%9F%E3%82%89%E3%81%99%E5%BD%B1%E9%9F%BF\"><\/span>\u907a\u4f1d\u5b50\u306e\u5909\u5316\u304c\u3082\u305f\u3089\u3059\u5f71\u97ff<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p><strong>TUBB2A\u907a\u4f1d\u5b50\u306b\u5909\u7570\u304c\u8d77\u304d\u308b\u3068\u3001\u30ec\u30fc\u30eb\u306e\u6210\u5206\u3067\u3042\u308b\u30c1\u30e5\u30fc\u30d6\u30ea\u30f3\u304c\u3046\u307e\u304f\u4f5c\u3089\u308c\u305a\u3001\u795e\u7d4c\u7d30\u80de\u304c\u6b63\u3057\u3044\u5834\u6240\u307e\u3067\u79fb\u52d5\u3067\u304d\u306a\u304f\u306a\u308a\u307e\u3059\u3002<\/strong><\/p>\n\n\n\n<p>\u5909\u7570\u306b\u3088\u3063\u3066\u30c1\u30e5\u30fc\u30d6\u30ea\u30f3\u306e\u5f62\u304c\u304a\u304b\u3057\u304f\u306a\u308b\u3068\u3001\u30ec\u30fc\u30eb\u304c\u9014\u4e2d\u3067\u66f2\u304c\u3063\u305f\u308a\u3001\u4e0d\u5b89\u5b9a\u306b\u306a\u3063\u305f\u308a\u3057\u307e\u3059\u3002\u305d\u306e\u7d50\u679c\u3001\u795e\u7d4c\u7d30\u80de\u304c\u6b63\u3057\u3044\u5834\u6240\u307e\u3067\u79fb\u52d5\u3067\u304d\u305a\u306b\u9014\u4e2d\u3067\u6b62\u307e\u3063\u3066\u3057\u307e\u3063\u305f\u308a\u3001\u9593\u9055\u3063\u305f\u5834\u6240\u306b\u914d\u7f6e\u3055\u308c\u305f\u308a\u3057\u307e\u3059\u3002\u8133\u306e\u8868\u9762\u306e\u3057\u308f\u304c\u7570\u5e38\u306b\u306a\u308b\u539a\u8133\u56de\u3084\u591a\u5c0f\u8133\u56de\u3001\u8133\u306e\u5965\u306e\u69cb\u9020\u3067\u3042\u308b\u57fa\u5e95\u6838\u304c\u3046\u307e\u304f\u5f62\u4f5c\u3089\u308c\u306a\u3044\u72b6\u614b\u306f\u3001\u3053\u3046\u3057\u305f\u795e\u7d4c\u7d30\u80de\u79fb\u52d5\u969c\u5bb3\u306e\u7d50\u679c\u3068\u3057\u3066\u8aac\u660e\u3055\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%EF%BD%9C%E5%A4%9A%E3%81%8F%E3%81%AF%E6%96%B0%E7%94%9F%E7%AA%81%E7%84%B6%E5%A4%89%E7%95%B0%EF%BC%88de_novo%EF%BC%89\"><\/span>\u907a\u4f1d\u306b\u3064\u3044\u3066\uff5c\u591a\u304f\u306f\u65b0\u751f\u7a81\u7136\u5909\u7570\uff08de novo\uff09<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p><strong>CDCBM5\u306e\u307b\u3068\u3093\u3069\u306e\u30b1\u30fc\u30b9\u306f\u3001\u3054\u4e21\u89aa\u306e\u907a\u4f1d\u5b50\u306b\u7570\u5e38\u304c\u306a\u304f\u3066\u3082\u8d77\u3053\u308b\u65b0\u751f\u7a81\u7136\u5909\u7570\uff08de novo\u5909\u7570\uff09\u306b\u3088\u308b\u3082\u306e\u3067\u3059\u3002<\/strong>\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\u304c\u3001\u305d\u306e\u5fc5\u8981\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u65b0\u751f\u7a81\u7136\u5909\u7570\u3068\u306f\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\u306bTUBB2A\u907a\u4f1d\u5b50\u306b\u5909\u5316\u304c\u8d77\u304d\u305f\u3053\u3068\u3092\u610f\u5473\u3057\u307e\u3059\u3002\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\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\n<p>\u30c1\u30e5\u30fc\u30d6\u30ea\u30f3\u95a2\u9023\u907a\u4f1d\u5b50\u306e\u5909\u5316\u306f\u3001\u591a\u304f\u304c\u5e38\u67d3\u8272\u4f53\u9855\u6027\u306e\u5f62\u5f0f\u3067\u6b21\u4e16\u4ee3\u306b\u4f1d\u308f\u308a\u3046\u308b\u6027\u8cea\u3092\u6301\u3064\u907a\u4f1d\u5b50\u3067\u3059\u304c\u3001CDCBM5\u306e\u5b9f\u969b\u306e\u75c7\u4f8b\u306e\u307b\u3068\u3093\u3069\u306f\u3054\u4e21\u89aa\u3069\u3061\u3089\u306b\u3082\u5909\u7570\u304c\u306a\u3044\u65b0\u751f\u7a81\u7136\u5909\u7570\u3067\u3059\u3002\u3054\u304f\u307e\u308c\u306b\u3001\u3054\u4e21\u89aa\u306e\u751f\u6b96\u7d30\u80de\u306e\u4e00\u90e8\u3060\u3051\u306b\u5909\u7570\u304c\u3042\u308b\u300c\u751f\u6b96\u7d30\u80de<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mosaicism\/\">\u30e2\u30b6\u30a4\u30af<\/a>\u300d\u3092\u80cc\u666f\u3068\u3057\u3066\u3001\u6b21\u306e\u304a\u5b50\u3055\u3093\u306b\u3082\u540c\u3058\u5909\u7570\u304c\u4f1d\u308f\u308b\u53ef\u80fd\u6027\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u6b21\u306e\u304a\u5b50\u3055\u3093\u3092\u8003\u3048\u308b\u969b\u306e\u5177\u4f53\u7684\u306a\u518d\u767a\u7387\u306f\u5bb6\u65cf\u3054\u3068\u306b\u7570\u306a\u308b\u305f\u3081\u3001\u81e8\u5e8a\u907a\u4f1d\u5c02\u9580\u533b\u306b\u3088\u308b\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>TUBB2A\u907a\u4f1d\u5b50\u3084\u95a2\u9023\u3059\u308b\u30c1\u30e5\u30fc\u30d6\u30ea\u30f3\u75c7\u5168\u4f53\u306e\u5206\u5b50\u30e1\u30ab\u30cb\u30ba\u30e0\u306b\u3064\u3044\u3066\u306f\u3001\u7c73\u56fd\u56fd\u7acb\u533b\u5b66\u56f3\u66f8\u9928\uff08NCBI\uff09\u304c\u516c\u958b\u3057\u3066\u3044\u308b\u5c02\u9580\u5bb6\u5411\u3051\u306e\u7dcf\u8aac\u300c<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK350554\/\" target=\"_blank\" rel=\"noopener\">Tubulinopathies Overview\uff08GeneReviews\uff09<\/a>\u300d\u306b\u8a73\u3057\u304f\u307e\u3068\u3081\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u307e\u305f\u3001TUBB2A\u907a\u4f1d\u5b50\u305d\u306e\u3082\u306e\u306e\u57fa\u790e\u60c5\u5831\u306f<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/gene\/7280\" target=\"_blank\" rel=\"noopener\">NCBI Gene\u306e\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9<\/a>\u3067\u78ba\u8a8d\u3067\u304d\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%EF%BD%9CMRI%E3%83%BB%E8%84%B3%E6%B3%A2%E3%83%BB%E9%81%BA%E4%BC%9D%E5%AD%A6%E7%9A%84%E6%A4%9C%E6%9F%BB\"><\/span>\u8a3a\u65ad\u3068\u691c\u67fb\u306e\u6d41\u308c\uff5cMRI\u30fb\u8133\u6ce2\u30fb\u907a\u4f1d\u5b66\u7684\u691c\u67fb<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>CDCBM5\u306e\u8a3a\u65ad\u306f\u3001\u75c7\u72b6\u306e\u89b3\u5bdf\u30fbMRI\u306a\u3069\u306e\u753b\u50cf\u691c\u67fb\u30fb\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u3092\u7d44\u307f\u5408\u308f\u305b\u3066\u884c\u308f\u308c\u3001\u6700\u7d42\u7684\u306a\u78ba\u5b9a\u8a3a\u65ad\u306b\u306f\u907a\u4f1d\u5b50\u691c\u67fb\u304c\u5fc5\u8981\u3067\u3059\u3002<\/strong>\u305d\u308c\u305e\u308c\u306e\u691c\u67fb\u3067\u4f55\u304c\u5206\u304b\u308b\u306e\u304b\u3092\u6574\u7406\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E7%94%BB%E5%83%8F%E6%A4%9C%E6%9F%BB%EF%BC%88MRI%EF%BC%89\"><\/span>1. \u753b\u50cf\u691c\u67fb\uff08MRI\uff09<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>CDCBM5\u3092\u7591\u3046\u4e0a\u3067\u3001MRI\u691c\u67fb\u306f\u6700\u3082\u91cd\u8981\u306a\u691c\u67fb\u3067\u3059\u3002\u8133\u306e\u65ad\u5c64\u5199\u771f\u3092\u64ae\u308b\u3053\u3068\u3067\u3001\u8133\u306e\u3057\u308f\u306e\u7570\u5e38\uff08\u539a\u8133\u56de\u3001\u591a\u5c0f\u8133\u56de\u3001\u6ed1\u8133\u75c7\u306a\u3069\uff09\u3001\u5927\u8133\u57fa\u5e95\u6838\u306e\u5f62\u306e\u7570\u5e38\uff08\u7279\u306b\u5c3e\u72b6\u6838\u3084\u88ab\u6bbb\u306e\u878d\u5408\u3084\u6b20\u640d\uff09\u3001\u8133\u6881\u306e\u4f4e\u5f62\u6210\u3001\u5c0f\u8133\u3084\u8133\u5e79\u306e\u4f4e\u5f62\u6210\u3068\u3044\u3063\u305f\u7279\u5fb4\u304c\u306a\u3044\u304b\u3092\u8a73\u3057\u304f\u8abf\u3079\u307e\u3059\u3002\u7279\u306b\u3001\u5927\u8133\u57fa\u5e95\u6838\u306e\u7570\u5e38\u3068\u76ae\u8cea\u306e\u7570\u5e38\u304c\u30bb\u30c3\u30c8\u3067\u898b\u3089\u308c\u308b\u5834\u5408\u3001TUBB2A\u3092\u542b\u3080\u30c1\u30e5\u30fc\u30d6\u30ea\u30f3\u907a\u4f1d\u5b50\u306e\u7570\u5e38\u304c\u5f37\u304f\u7591\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E8%84%B3%E6%B3%A2%E6%A4%9C%E6%9F%BB\"><\/span>2. \u8133\u6ce2\u691c\u67fb<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3066\u3093\u304b\u3093\u767a\u4f5c\u304c\u3042\u308b\u5834\u5408\u3084\u3001\u767a\u4f5c\u304c\u7591\u308f\u308c\u308b\u3088\u3046\u306a\u52d5\u4f5c\u304c\u898b\u3089\u308c\u308b\u5834\u5408\u306b\u884c\u308f\u308c\u307e\u3059\u3002\u8133\u306e\u96fb\u6c17\u6d3b\u52d5\u3092\u8a18\u9332\u3057\u3001\u3066\u3093\u304b\u3093\u6027\u306e\u6ce2\uff08\u30b9\u30d1\u30a4\u30af\uff09\u304c\u51fa\u3066\u3044\u306a\u3044\u304b\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002\u767a\u4f5c\u306e\u30bf\u30a4\u30d7\u3092\u7279\u5b9a\u3057\u3001\u6cbb\u7642\u85ac\u3092\u6c7a\u3081\u308b\u305f\u3081\u306b\u4e0d\u53ef\u6b20\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>3. \u907a\u4f1d\u5b66\u7684\u691c\u67fb<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\u3002MRI\u3067\u7279\u5fb4\u7684\u306a\u8133\u306e\u5f62\u304c\u898b\u3064\u304b\u3063\u3066\u3082\u3001\u305d\u308c\u3060\u3051\u3067CDCBM5\u3068\u65ad\u5b9a\u3059\u308b\u3053\u3068\u306f\u3067\u304d\u307e\u305b\u3093\u3002\u4ed6\u306e\u30c1\u30e5\u30fc\u30d6\u30ea\u30f3\u907a\u4f1d\u5b50\uff08TUBA1A\u3001TUBB2B\u3001TUBB3\u306a\u3069\uff09\u3067\u3082\u4f3c\u305f\u3088\u3046\u306a\u8133\u306e\u5f62\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308b\u304b\u3089\u3067\u3059\u3002<\/p>\n\n\n\n<p>\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\u8133\u5947\u5f62\u306b\u95a2\u9023\u3059\u308b\u907a\u4f1d\u5b50\u30d1\u30cd\u30eb\u691c\u67fb\u304c\u884c\u308f\u308c\u308b\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\u3059\u3002\u3053\u3046\u3057\u305f\u691c\u67fb\u3067\u7279\u5b9a\u3055\u308c\u305fTUBB2A\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3053\u305d\u304c\u3001CDCBM5\u3068\u3044\u3046\u539f\u56e0\u306e\u5b9f\u614b\u3092\u793a\u3059\u6839\u62e0\u3067\u3042\u308a\u3001\u78ba\u5b9a\u8a3a\u65ad\u306b\u81f3\u308b\u6c7a\u3081\u624b\u3068\u306a\u308a\u307e\u3059\u3002\u5b9f\u969b\u306bTUBB2A\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3068\u3053\u306e\u75be\u60a3\u50cf\u306e\u95a2\u9023\u3092\u5831\u544a\u3057\u305f\u4ee3\u8868\u7684\u306a\u7814\u7a76\u3068\u3057\u3066\u3001Cushion\u3089\u306b\u3088\u308b2014\u5e74\u306e\u8ad6\u6587\uff08<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/24702957\/\" target=\"_blank\" rel=\"noopener\">American Journal of Human Genetics\u63b2\u8f09<\/a>\uff09\u304c\u3042\u308a\u307e\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=\"%E6%B2%BB%E7%99%82%E3%81%A8%E7%AE%A1%E7%90%86%EF%BD%9C%E4%BB%8A%E3%81%A7%E3%81%8D%E3%82%8B%E3%82%B5%E3%83%9D%E3%83%BC%E3%83%88%E3%81%A8%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\"><\/span>\u6cbb\u7642\u3068\u7ba1\u7406\uff5c\u4eca\u3067\u304d\u308b\u30b5\u30dd\u30fc\u30c8\u3068\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3<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\u6cbb\u3059\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u73fe\u6642\u70b9\u3067\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u304c\u3001\u3066\u3093\u304b\u3093\u306e\u85ac\u7269\u6cbb\u7642\u3068\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u3092\u7d44\u307f\u5408\u308f\u305b\u308b\u3053\u3068\u3067\u3001\u304a\u5b50\u3055\u3093\u306e\u751f\u6d3b\u306e\u8cea\u3092\u9ad8\u3081\u308b\u3053\u3068\u306f\u5341\u5206\u306b\u53ef\u80fd\u3067\u3059\u3002<\/strong>\u305d\u308c\u305e\u308c\u306e\u652f\u63f4\u306e\u5185\u5bb9\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%E3%81%AE%E6%B2%BB%E7%99%82\"><\/span>1. \u3066\u3093\u304b\u3093\u306e\u6cbb\u7642<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3066\u3093\u304b\u3093\u767a\u4f5c\u3092\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3059\u308b\u3053\u3068\u306f\u3001\u8133\u306e\u767a\u9054\u3092\u5b88\u308b\u305f\u3081\u306b\u3082\u975e\u5e38\u306b\u91cd\u8981\u306a\u6cbb\u7642\u306e\u67f1\u3067\u3059\u3002\u6297\u3066\u3093\u304b\u3093\u85ac\u306b\u3088\u308b\u6cbb\u7642\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u3001\u767a\u4f5c\u306e\u30bf\u30a4\u30d7\u306b\u5408\u308f\u305b\u3066\u3001\u30d0\u30eb\u30d7\u30ed\u9178\u3001\u30ec\u30d9\u30c1\u30e9\u30bb\u30bf\u30e0\u3001\u30af\u30ed\u30d0\u30b6\u30e0\u3001\u30e9\u30e2\u30c8\u30ea\u30ae\u30f3\u3001\u30c8\u30d4\u30e9\u30de\u30fc\u30c8\u306a\u3069\u3001\u69d8\u3005\u306a\u304a\u85ac\u304c\u8a66\u3055\u308c\u307e\u3059\u3002\u4e00\u3064\u306e\u304a\u85ac\u3067\u6b62\u307e\u3089\u306a\u3044\u5834\u5408\u306f\u3001\u8907\u6570\u3092\u7d44\u307f\u5408\u308f\u305b\u305f\u308a\u3057\u307e\u3059\u3002\u96e3\u6cbb\u6027\u306e\u5834\u5408\u306f\u3001\u30b1\u30c8\u30f3\u98df\u7642\u6cd5\u306a\u3069\u306e\u98df\u4e8b\u7642\u6cd5\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>2. \u767a\u9054\u652f\u63f4\u3068\u7642\u80b2\uff08\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\uff09<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\u5927\u5207\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\u3001\u9006\u306b\u7b4b\u8089\u306e\u7a81\u3063\u5f35\u308a\uff08\u75d9\u7e2e\uff09\u306b\u30a2\u30d7\u30ed\u30fc\u30c1\u3057\u307e\u3059\u3002\u9996\u3059\u308f\u308a\u3084\u304a\u5ea7\u308a\u306e\u7df4\u7fd2\u3001\u95a2\u7bc0\u304c\u786c\u304f\u306a\u3089\u306a\u3044\u3088\u3046\u306a\u30de\u30c3\u30b5\u30fc\u30b8\u3084\u30b9\u30c8\u30ec\u30c3\u30c1\u3092\u884c\u3046\u307b\u304b\u3001\u6b69\u884c\u304c\u96e3\u3057\u3044\u5834\u5408\u306f\u5ea7\u4f4d\u4fdd\u6301\u88c5\u7f6e\u3084\u8eca\u6905\u5b50\u3001\u30d0\u30ae\u30fc\u3001\u7acb\u4f4d\u53f0\u306a\u3069\u3001\u304a\u5b50\u3055\u3093\u306e\u4f53\u306b\u5408\u3063\u305f\u798f\u7949\u7528\u5177\u3092\u4f5c\u308b\u969b\u306b\u3082\u5c02\u9580\u7684\u306a\u30a2\u30c9\u30d0\u30a4\u30b9\u3092\u53d7\u3051\u3089\u308c\u307e\u3059\u3002\u9069\u5207\u306a\u59ff\u52e2\u3092\u4fdd\u3064\u3053\u3068\u306f\u3001\u547c\u5438\u3084\u98df\u4e8b\u3092\u30b9\u30e0\u30fc\u30ba\u306b\u3059\u308b\u305f\u3081\u306b\u3082\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n\n<p>\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\u3079\u307e\u3059\u3002\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\u3092\u63a2\u308a\u307e\u3059\u3002\u8a00\u8449\u304c\u51fa\u306b\u304f\u3044\u5834\u5408\u3067\u3082\u3001\u7d75\u30ab\u30fc\u30c9\u3084\u30b9\u30a4\u30c3\u30c1\u3001\u8996\u7dda\u5165\u529b\u88c5\u7f6e\u306a\u3069\u3092\u4f7f\u3046\u3053\u3068\u3067\u610f\u601d\u758e\u901a\u304c\u3067\u304d\u308b\u3088\u3046\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u307e\u305f\u3001\u98df\u3079\u308b\u6a5f\u80fd\uff08\u6442\u98df\u56a5\u4e0b\uff09\u306e\u8a13\u7df4\u3082\u884c\u308f\u308c\u3001\u98f2\u307f\u8fbc\u307f\u304c\u96e3\u3057\u3044\u5834\u5408\u306f\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<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"426\" src=\"\/nipt\/wp-content\/uploads\/2026\/01\/4211939_s.webp\" alt=\"\u767a\u9054\u652f\u63f4\u3068\u7642\u80b2\u306e\u69d8\u5b50\u3092\u30a4\u30e1\u30fc\u30b8\u3057\u305f\u5199\u771f\" class=\"wp-image-123056\"\/><\/figure><\/div>\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E6%A0%84%E9%A4%8A%E3%81%A8%E5%91%BC%E5%90%B8%E3%81%AE%E7%AE%A1%E7%90%86\"><\/span>3. \u6804\u990a\u3068\u547c\u5438\u306e\u7ba1\u7406<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6442\u98df\u30fb\u56a5\u4e0b\u7ba1\u7406<br>\u98f2\u307f\u8fbc\u3080\u529b\u304c\u5f31\u304f\u3001\u53e3\u304b\u3089\u5341\u5206\u306b\u6804\u990a\u304c\u6442\u308c\u306a\u3044\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\u304a\u5b50\u3055\u3093\u3068\u3054\u5bb6\u65cf\u306e\u98df\u4e8b\u6642\u9593\u306e\u8ca0\u62c5\u3092\u8efd\u304f\u3059\u308b\u305f\u3081\u306e\u6709\u52b9\u306a\u624b\u6bb5\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u547c\u5438\u7ba1\u7406<br>\u7b4b\u7dca\u5f35\u304c\u5f31\u3044\u3068\u547c\u5438\u3092\u3059\u308b\u529b\u3082\u5f31\u304f\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u98a8\u90aa\u3092\u5f15\u3044\u305f\u3068\u304d\u306b\u75f0\u304c\u51fa\u3057\u306b\u304f\u304b\u3063\u305f\u308a\u3001\u7761\u7720\u4e2d\u306b\u547c\u5438\u304c\u6d45\u304f\u306a\u3063\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3042\u308b\u305f\u3081\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u5438\u5f15\u5668\u3092\u4f7f\u7528\u3057\u305f\u308a\u3001\u5728\u5b85\u9178\u7d20\u7642\u6cd5\u3092\u884c\u3063\u305f\u308a\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E6%95%B4%E5%BD%A2%E5%A4%96%E7%A7%91%E7%9A%84%E3%82%B1%E3%82%A2\"><\/span>4. \u6574\u5f62\u5916\u79d1\u7684\u30b1\u30a2<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6210\u9577\u3068\u3068\u3082\u306b\u3001\u80cc\u9aa8\u304c\u66f2\u304c\u308b\u5074\u5f2f\u75c7\u3084\u3001\u80a1\u95a2\u7bc0\u306e\u8131\u81fc\u306a\u3069\u304c\u8d77\u304d\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u5b9a\u671f\u7684\u306b\u6574\u5f62\u5916\u79d1\u3092\u53d7\u8a3a\u3057\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u88c5\u5177\u306e\u4f7f\u7528\u3084\u624b\u8853\u306a\u3069\u3092\u691c\u8a0e\u3057\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%BC%BC%E3%81%9F%E5%90%8D%E5%89%8D%E3%81%AE%E7%97%85%E6%B0%97%E3%81%A8%E3%81%AE%E9%81%95%E3%81%84%EF%BD%9CCDCBM6%E3%83%BB%E6%BB%91%E8%84%B3%E7%97%873%E5%9E%8B%E3%83%BBH-ABC%E7%97%87%E5%80%99%E7%BE%A4\"><\/span>\u4f3c\u305f\u540d\u524d\u306e\u75c5\u6c17\u3068\u306e\u9055\u3044\uff5cCDCBM6\u30fb\u6ed1\u8133\u75c73\u578b\u30fbH-ABC\u75c7\u5019\u7fa4<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>CDCBM5\u3068\u3088\u304f\u4f3c\u305f\u540d\u524d\u306e\u75c5\u6c17\u306f\u3001\u3044\u305a\u308c\u3082\u300c\u30c1\u30e5\u30fc\u30d6\u30ea\u30f3\u75c7\u300d\u3068\u3044\u3046\u540c\u3058\u5927\u304d\u306a\u67a0\u7d44\u307f\u306b\u5c5e\u3057\u3066\u3044\u307e\u3059\u304c\u3001\u539f\u56e0\u3068\u306a\u308b\u907a\u4f1d\u5b50\u3084\u8133\u306e\u7279\u5fb4\u306b\u306f\u9055\u3044\u304c\u3042\u308a\u307e\u3059\u3002<\/strong>\u6df7\u540c\u3057\u3084\u3059\u3044\u75c5\u540d\u3092\u6574\u7406\u3057\u3066\u304a\u304d\u307e\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<figure class=\"wp-block-table\"><table><thead><tr><th>\u75c5\u540d<\/th><th>\u4e3b\u306a\u539f\u56e0\u907a\u4f1d\u5b50<\/th><th>\u8133\u306e\u4e3b\u306a\u7279\u5fb4<\/th><\/tr><\/thead><tbody><tr><td>CDCBM5\uff08\u672c\u8a18\u4e8b\uff09<\/td><td>TUBB2A<\/td><td>\u539a\u8133\u56de\u30fb\u591a\u5c0f\u8133\u56de\u3001\u5927\u8133\u57fa\u5e95\u6838\u306e\u7570\u5f62\u6210<\/td><\/tr><tr><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cortical-dysplasia-complex-brain-malformations-6-zic1-guide\/\">CDCBM6<\/a><\/td><td>CDCBM5\u3068\u306f\u5225\u306e\u539f\u56e0\u907a\u4f1d\u5b50<\/td><td>\u8907\u5408\u4f53\u306e\u8133\u5f62\u6210\u7570\u5e38\uff08\u8a73\u7d30\u306f\u500b\u5225\u8a18\u4e8b\u3092\u53c2\u7167\uff09<\/td><\/tr><tr><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lissencephaly-type3-guide\/\">\u6ed1\u8133\u75c73\u578b\uff08LIS3\uff09<\/a><\/td><td>TUBA1A<\/td><td>\u3088\u308a\u5e83\u7bc4\u306a\u6ed1\u8133\u75c7\uff08\u8133\u56de\u306e\u6d88\u5931\uff09\u3092\u7279\u5fb4\u3068\u3059\u308b\u3053\u3068\u304c\u591a\u3044<\/td><\/tr><tr><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/hld6-h-abc-syndrome-guide\/\">H-ABC\u75c7\u5019\u7fa4<\/a><\/td><td>TUBB4A<\/td><td>\u5927\u8133\u57fa\u5e95\u6838\u3068\u5c0f\u8133\u306e\u840e\u7e2e\u306b\u52a0\u3048\u3001\u8133\u306e\u767d\u8cea\u5f62\u6210\u4e0d\u5168\u304c\u4e2d\u5fc3<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<p>\u75c5\u540d\u3060\u3051\u3092\u898b\u308b\u3068\u300c\u8907\u5408\u4f53\u300d\u300c\u75c7\u5019\u7fa4\u300d\u3068\u3044\u3063\u305f\u8a00\u8449\u304c\u5171\u901a\u3057\u3066\u3044\u308b\u305f\u3081\u6df7\u540c\u3057\u3084\u3059\u3044\u306e\u3067\u3059\u304c\u3001\u5b9f\u969b\u306b\u306f\u305d\u308c\u305e\u308c\u539f\u56e0\u907a\u4f1d\u5b50\u304c\u7570\u306a\u308b\u5225\u3005\u306e\u75be\u60a3\u3067\u3059\u3002MRI\u6240\u898b\u3060\u3051\u3067\u898b\u5206\u3051\u308b\u3053\u3068\u306f\u96e3\u3057\u304f\u3001\u524d\u8ff0\u306e\u3068\u304a\u308a\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u306b\u3088\u308b\u539f\u56e0\u907a\u4f1d\u5b50\u306e\u7279\u5b9a\u304c\u8a3a\u65ad\u306e\u6c7a\u3081\u624b\u306b\u306a\u308a\u307e\u3059\u3002\u304a\u5b50\u3055\u3093\u306e\u8a3a\u65ad\u540d\u304cCDCBM5\u3067\u9593\u9055\u3044\u306a\u3044\u304b\u4e0d\u5b89\u306a\u5834\u5408\u306f\u3001\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u306e\u7d50\u679c\u5831\u544a\u66f8\u306b\u8a18\u8f09\u3055\u308c\u305f\u539f\u56e0\u907a\u4f1d\u5b50\u540d\u3092\u3001\u4e3b\u6cbb\u533b\u3084\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u3068\u4e00\u7dd2\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%94%E5%AE%B6%E6%97%8F%E3%81%8C%E4%BB%8A%E3%81%A7%E3%81%8D%E3%82%8B%E3%81%93%E3%81%A8%EF%BD%9C%E7%9B%B8%E8%AB%87%E7%AA%93%E5%8F%A3%E3%81%A8%E6%AC%A1%E3%81%AE%E3%82%B9%E3%83%86%E3%83%83%E3%83%97\"><\/span>\u3054\u5bb6\u65cf\u304c\u4eca\u3067\u304d\u308b\u3053\u3068\uff5c\u76f8\u8ac7\u7a93\u53e3\u3068\u6b21\u306e\u30b9\u30c6\u30c3\u30d7<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u8a3a\u65ad\u3092\u53d7\u3051\u305f\u76f4\u5f8c\u306f\u3001\u307e\u305a\u4e3b\u6cbb\u533b\u3084\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u306b\u76f8\u8ac7\u3057\u306a\u304c\u3089\u3001\u7642\u80b2\u3084\u652f\u63f4\u5236\u5ea6\u306e\u7a93\u53e3\u306b\u3064\u306a\u304c\u3063\u3066\u3044\u304f\u3053\u3068\u304c\u6700\u521d\u306e\u4e00\u6b69\u306b\u306a\u308a\u307e\u3059\u3002<\/strong>\u5177\u4f53\u7684\u306b\u3069\u3053\u306b\u76f8\u8ac7\u3059\u308c\u3070\u3088\u3044\u306e\u304b\u3001\u9806\u756a\u306b\u6574\u7406\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\"><li>\u8a3a\u65ad\u304c\u3064\u3044\u305f\u75c5\u9662\u306e\u5c0f\u5150\u795e\u7d4c\u79d1\u30fb\u907a\u4f1d\u5b50\u8a3a\u7642\u79d1\u3067\u3001\u4eca\u5f8c\u306e\u7d4c\u904e\u89b3\u5bdf\u306e\u8a08\u753b\u3092\u78ba\u8a8d\u3059\u308b<\/li><li>\u81e8\u5e8a\u907a\u4f1d\u5c02\u9580\u533b\u306b\u3088\u308b\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u3001\u6b21\u306e\u304a\u5b50\u3055\u3093\u3092\u8003\u3048\u308b\u969b\u306e\u76f8\u8ac7\u3082\u542b\u3081\u3066\u8a71\u3092\u805e\u304f<\/li><li>\u5730\u57df\u306e\u7642\u80b2\u30bb\u30f3\u30bf\u30fc\u3084\u5150\u7ae5\u767a\u9054\u652f\u63f4\u4e8b\u696d\u6240\u306b\u3001\u65e9\u671f\u304b\u3089\u306e\u7642\u80b2\u306b\u3064\u3044\u3066\u76f8\u8ac7\u3059\u308b<\/li><li>\u540c\u3058\u5e0c\u5c11\u75be\u60a3\u306e\u5bb6\u65cf\u4f1a\u3084SNS\u306e\u30b3\u30df\u30e5\u30cb\u30c6\u30a3\u3067\u3001\u4ed6\u306e\u3054\u5bb6\u65cf\u306e\u4f53\u9a13\u306b\u89e6\u308c\u3066\u307f\u308b<\/li><\/ul>\n\n\n\n<p>\u7279\u306b\u3001\u7642\u80b2\u3084\u798f\u7949\u30b5\u30fc\u30d3\u30b9\u306e\u5236\u5ea6\u306f\u81ea\u6cbb\u4f53\u306b\u3088\u3063\u3066\u7a93\u53e3\u3084\u540d\u79f0\u304c\u7570\u306a\u308b\u305f\u3081\u3001\u307e\u305a\u306f\u51fa\u751f\u3057\u305f\u75c5\u9662\u306e\u30bd\u30fc\u30b7\u30e3\u30eb\u30ef\u30fc\u30ab\u30fc\u3084\u5730\u57df\u306e\u4fdd\u5065\u30bb\u30f3\u30bf\u30fc\u306b\u76f8\u8ac7\u3059\u308b\u3068\u30b9\u30e0\u30fc\u30ba\u3067\u3059\u3002\u969c\u5bb3\u5150\u652f\u63f4\u306e\u5236\u5ea6\u5168\u4f53\u306e\u6982\u8981\u306f\u3001\u3053\u3069\u3082\u5bb6\u5ead\u5e81\u306e<a href=\"https:\/\/www.cfa.go.jp\/policies\/shougaijishien\" target=\"_blank\" rel=\"noopener\">\u969c\u5bb3\u5150\u652f\u63f4\u306b\u95a2\u3059\u308b\u30da\u30fc\u30b8<\/a>\u306b\u307e\u3068\u3081\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u3072\u3068\u308a\u3067\u62b1\u3048\u8fbc\u307e\u305a\u3001\u533b\u7642\u8005\u3084\u652f\u63f4\u306e\u7a93\u53e3\u3092\u65e9\u3081\u306b\u983c\u3063\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3092\u4f34\u3046\u5148\u5929\u6027\u75be\u60a3\u5168\u822c\u306b\u3064\u3044\u3066\u5e45\u5e83\u304f\u77e5\u308a\u305f\u3044\u5834\u5408\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-intellectual-disability-can-detect\/\">\u77e5\u7684\u969c\u5bb3\u306fNIPT\u3067\u308f\u304b\u308b\u306e\uff1f\u691c\u67fb\u524d\u306b\u77e5\u3063\u3066\u304a\u304d\u305f\u3044\u3053\u3068<\/a>\u3082\u3042\u308f\u305b\u3066\u3054\u89a7\u304f\u3060\u3055\u3044\u3002\u598a\u5a20\u4e2d\u306e\u691c\u67fb\u3067\u5206\u304b\u308b\u3053\u3068\u3068\u5206\u304b\u3089\u306a\u3044\u3053\u3068\u306e\u9055\u3044\u3092\u6574\u7406\u3057\u3066\u3044\u307e\u3059\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%EF%BC%88FAQ%EF%BC%89\"><\/span>\u3088\u304f\u3042\u308b\u8cea\u554f\uff08FAQ\uff09<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_CDCBM5%E3%81%A8TUBB2A%E9%96%A2%E9%80%A3%E8%84%B3%E5%BD%A2%E6%88%90%E7%95%B0%E5%B8%B8%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>Q. CDCBM5\u3068TUBB2A\u95a2\u9023\u8133\u5f62\u6210\u7570\u5e38\u306f\u540c\u3058\u75c5\u6c17\u3067\u3059\u304b\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u306f\u3044\u3001\u540c\u3058\u75c5\u6c17\u3092\u6307\u3057\u3066\u3044\u307e\u3059\u3002CDCBM5\u306f\u6b63\u5f0f\u75c5\u540d\u300c\u8133\u76ae\u8cea\u7570\u5f62\u6210\u3068\u4ed6\u306e\u8133\u5947\u5f62\u3092\u4f34\u3046\u8907\u5408\u4f535\u578b\u300d\u306e\u7565\u79f0\u3067\u3001TUBB2A\u907a\u4f1d\u5b50\u306e\u5909\u7570\u304c\u539f\u56e0\u3067\u3042\u308b\u3053\u3068\u304b\u3089\u300cTUBB2A\u95a2\u9023\u8133\u5f62\u6210\u7570\u5e38\u300d\u3068\u3082\u547c\u3070\u308c\u307e\u3059\u3002\u3069\u3061\u3089\u306e\u547c\u3073\u65b9\u3082\u3001\u533b\u5b66\u8ad6\u6587\u3084\u8a3a\u7642\u306e\u73fe\u5834\u3067\u4f7f\u308f\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_%E8%A6%AA%E3%81%8B%E3%82%89%E9%81%BA%E4%BC%9D%E3%81%97%E3%81%9F%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%E6%AC%A1%E3%81%AE%E5%AD%90%E3%81%AB%E3%82%82%E8%B5%B7%E3%81%93%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span>Q. \u89aa\u304b\u3089\u907a\u4f1d\u3057\u305f\u53ef\u80fd\u6027\u306f\u3042\u308a\u307e\u3059\u304b\uff1f\u6b21\u306e\u5b50\u306b\u3082\u8d77\u3053\u308a\u307e\u3059\u304b\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>CDCBM5\u306e\u307b\u3068\u3093\u3069\u306e\u30b1\u30fc\u30b9\u306f\u3001\u3054\u4e21\u89aa\u306e\u3069\u3061\u3089\u306b\u3082\u5909\u7570\u304c\u306a\u3044\u65b0\u751f\u7a81\u7136\u5909\u7570\uff08de novo\uff09\u306b\u3088\u308b\u3082\u306e\u3067\u3059\u3002\u3054\u81ea\u8eab\u3092\u8cac\u3081\u308b\u5fc5\u8981\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u305f\u3060\u3057\u3001\u3054\u304f\u307e\u308c\u306b\u3054\u4e21\u89aa\u306e\u751f\u6b96\u7d30\u80de\u306e\u4e00\u90e8\u3060\u3051\u306b\u5909\u7570\u304c\u3042\u308b\u300c\u751f\u6b96\u7d30\u80de<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mosaicism\/\">\u30e2\u30b6\u30a4\u30af<\/a>\u300d\u3092\u80cc\u666f\u3068\u3057\u3066\u3001\u6b21\u306e\u304a\u5b50\u3055\u3093\u306b\u3082\u540c\u3058\u5909\u7570\u304c\u4f1d\u308f\u308b\u53ef\u80fd\u6027\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u6b21\u306e\u304a\u5b50\u3055\u3093\u3092\u8003\u3048\u308b\u969b\u306e\u5177\u4f53\u7684\u306a\u518d\u767a\u7387\u306f\u5bb6\u65cf\u3054\u3068\u306b\u7570\u306a\u308b\u305f\u3081\u3001\u81e8\u5e8a\u907a\u4f1d\u5c02\u9580\u533b\u306b\u3088\u308b\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=\"Q_MRI%E3%81%A7%E8%84%B3%E3%81%AE%E7%89%B9%E5%BE%B4%E3%81%8C%E8%A6%8B%E3%81%A4%E3%81%8B%E3%81%A3%E3%81%9F%E3%82%89%E3%80%81%E5%BF%85%E3%81%9ATUBB2A%E3%81%8C%E5%8E%9F%E5%9B%A0%E3%81%A7%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span>Q. MRI\u3067\u8133\u306e\u7279\u5fb4\u304c\u898b\u3064\u304b\u3063\u305f\u3089\u3001\u5fc5\u305aTUBB2A\u304c\u539f\u56e0\u3067\u3059\u304b\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3044\u3044\u3048\u3001\u65ad\u5b9a\u306f\u3067\u304d\u307e\u305b\u3093\u3002\u4ed6\u306e\u30c1\u30e5\u30fc\u30d6\u30ea\u30f3\u907a\u4f1d\u5b50\uff08TUBA1A\u3001TUBB2B\u3001TUBB3\u306a\u3069\uff09\u3067\u3082\u4f3c\u305f\u3088\u3046\u306a\u8133\u306e\u5f62\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308b\u305f\u3081\u3067\u3059\u3002\u78ba\u5b9a\u8a3a\u65ad\u306b\u306f\u3001\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u3084\u8133\u5947\u5f62\u306b\u95a2\u9023\u3059\u308b\u907a\u4f1d\u5b50\u30d1\u30cd\u30eb\u691c\u67fb\u306a\u3069\u3001\u8840\u6db2\u3092\u7528\u3044\u305f\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u3067TUBB2A\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3092\u78ba\u8a8d\u3059\u308b\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_%E3%81%A6%E3%82%93%E3%81%8B%E3%82%93%E3%81%AF%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AB%E6%B2%BB%E7%99%82%E3%81%97%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F%E5%AE%8C%E5%85%A8%E3%81%AB%E6%AD%A2%E3%81%BE%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span>Q. \u3066\u3093\u304b\u3093\u306f\u3069\u306e\u3088\u3046\u306b\u6cbb\u7642\u3057\u307e\u3059\u304b\uff1f\u5b8c\u5168\u306b\u6b62\u307e\u308a\u307e\u3059\u304b\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6297\u3066\u3093\u304b\u3093\u85ac\u306b\u3088\u308b\u6cbb\u7642\u304c\u4e2d\u5fc3\u3067\u3001\u767a\u4f5c\u306e\u30bf\u30a4\u30d7\u306b\u5408\u308f\u305b\u3066\u30d0\u30eb\u30d7\u30ed\u9178\u3084\u30ec\u30d9\u30c1\u30e9\u30bb\u30bf\u30e0\u306a\u3069\u8907\u6570\u306e\u85ac\u304c\u8a66\u3055\u308c\u307e\u3059\u3002\u591a\u304f\u306e\u304a\u5b50\u3055\u3093\u3067\u767a\u4f5c\u306e\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u304c\u5f97\u3089\u308c\u307e\u3059\u304c\u3001\u4e2d\u306b\u306f\u8907\u6570\u306e\u85ac\u3092\u4f7f\u3063\u3066\u3082\u767a\u4f5c\u304c\u6b62\u307e\u308a\u306b\u304f\u3044\u96e3\u6cbb\u6027\u3066\u3093\u304b\u3093\u3068\u306a\u308b\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002\u767a\u4f5c\u306e\u72b6\u6cc1\u306f\u4e3b\u6cbb\u533b\u3068\u5b9a\u671f\u7684\u306b\u78ba\u8a8d\u3057\u306a\u304c\u3089\u3001\u6cbb\u7642\u65b9\u91dd\u3092\u8abf\u6574\u3057\u3066\u3044\u304f\u3053\u3068\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_%E7%99%BA%E9%81%94%E3%81%AE%E8%A6%8B%E9%80%9A%E3%81%97%E3%81%AF%E3%81%A9%E3%81%AE%E7%A8%8B%E5%BA%A6%E3%81%A7%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span>Q. \u767a\u9054\u306e\u898b\u901a\u3057\u306f\u3069\u306e\u7a0b\u5ea6\u3067\u3059\u304b\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u75c7\u4f8b\u306b\u306f\u5e45\u304c\u3042\u308a\u3001\u91cd\u5ea6\u306e\u767a\u9054\u9045\u6ede\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3092\u4f34\u3046\u3053\u3068\u304c\u4e00\u822c\u7684\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u75c7\u72b6\u306e\u91cd\u3055\u3084\u767a\u9054\u306e\u30da\u30fc\u30b9\u306f\u304a\u5b50\u3055\u3093\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u307e\u3059\u3002\u751f\u307e\u308c\u3066\u3059\u3050\u306e\u6642\u70b9\u3067\u5c06\u6765\u306e\u898b\u901a\u3057\u3092\u3072\u3068\u3064\u306b\u65ad\u5b9a\u3059\u308b\u3053\u3068\u306f\u96e3\u3057\u304f\u3001\u6210\u9577\u306e\u7d4c\u904e\u3092\u898b\u306a\u304c\u3089\u3001\u305d\u306e\u6642\u3005\u306b\u5408\u3063\u305f\u7642\u80b2\u3084\u30b1\u30a2\u3092\u7d44\u307f\u7acb\u3066\u3066\u3044\u304f\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_%E5%90%8C%E3%81%98%E3%80%8C%E8%A4%87%E5%90%88%E4%BD%93%E3%80%8D%E3%81%A8%E5%90%8D%E3%81%AE%E3%81%A4%E3%81%8FCDCBM6%E3%81%A8%E3%81%AF%E3%81%A9%E3%81%86%E9%81%95%E3%81%84%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span>Q. \u540c\u3058\u300c\u8907\u5408\u4f53\u300d\u3068\u540d\u306e\u3064\u304fCDCBM6\u3068\u306f\u3069\u3046\u9055\u3044\u307e\u3059\u304b\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>CDCBM5\u3068CDCBM6\u306f\u3001\u540d\u524d\u306f\u4f3c\u3066\u3044\u307e\u3059\u304c\u539f\u56e0\u3068\u306a\u308b\u907a\u4f1d\u5b50\u304c\u7570\u306a\u308b\u5225\u306e\u75be\u60a3\u3067\u3059\u3002CDCBM5\u306fTUBB2A\u907a\u4f1d\u5b50\u3001CDCBM6\u306f\u5225\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u306b\u3088\u308b\u3082\u306e\u3067\u3001MRI\u6240\u898b\u3060\u3051\u3067\u898b\u5206\u3051\u308b\u3053\u3068\u306f\u96e3\u3057\u304f\u3001\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u306b\u3088\u308b\u539f\u56e0\u907a\u4f1d\u5b50\u306e\u7279\u5b9a\u304c\u8a3a\u65ad\u306e\u6c7a\u3081\u624b\u306b\u306a\u308a\u307e\u3059\u3002\u8a73\u3057\u304f\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cortical-dysplasia-complex-brain-malformations-6-zic1-guide\/\">CDCBM6\u306e\u89e3\u8aac\u8a18\u4e8b<\/a>\u3082\u3042\u308f\u305b\u3066\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_%E5%AE%B6%E6%97%8F%E3%81%A8%E3%81%97%E3%81%A6%E3%81%BE%E3%81%9A%E4%BD%95%E3%82%92%E3%81%99%E3%82%8C%E3%81%B0%E3%82%88%E3%81%84%E3%81%A7%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span>Q. \u5bb6\u65cf\u3068\u3057\u3066\u307e\u305a\u4f55\u3092\u3059\u308c\u3070\u3088\u3044\u3067\u3059\u304b\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u307e\u305a\u306f\u8a3a\u65ad\u304c\u3064\u3044\u305f\u75c5\u9662\u306e\u5c0f\u5150\u795e\u7d4c\u79d1\u3084\u907a\u4f1d\u5b50\u8a3a\u7642\u79d1\u3067\u3001\u4eca\u5f8c\u306e\u7d4c\u904e\u89b3\u5bdf\u306e\u8a08\u753b\u3092\u78ba\u8a8d\u3057\u307e\u3057\u3087\u3046\u3002\u3042\u308f\u305b\u3066\u3001\u81e8\u5e8a\u907a\u4f1d\u5c02\u9580\u533b\u306b\u3088\u308b\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3084\u3001\u5730\u57df\u306e\u7642\u80b2\u30bb\u30f3\u30bf\u30fc\u3078\u306e\u76f8\u8ac7\u3092\u65e9\u3081\u306b\u59cb\u3081\u308b\u3053\u3068\u3092\u304a\u52e7\u3081\u3057\u307e\u3059\u3002\u5236\u5ea6\u9762\u306e\u7a93\u53e3\u304c\u5206\u304b\u3089\u306a\u3044\u3068\u304d\u306f\u3001\u51fa\u751f\u3057\u305f\u75c5\u9662\u306e\u30bd\u30fc\u30b7\u30e3\u30eb\u30ef\u30fc\u30ab\u30fc\u3084\u5730\u57df\u306e\u4fdd\u5065\u30bb\u30f3\u30bf\u30fc\u306b\u805e\u3044\u3066\u307f\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<div style=\"border:1px solid #f0d0dc;border-radius:12px;padding:1.2em 1.4em;margin:2.5rem 0 1rem;background:#fffafc;\">\n<p style=\"margin:0 0 0.4em;font-weight:bold;\">\u8457\u8005\u30fb\u76e3\u4fee<\/p>\n<p style=\"margin:0;\">\u5ca1 \u535a\u53f2\uff08\u304a\u304b \u3072\u308d\u3057\uff09\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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{\"@type\":\"Question\",\"name\":\"\u767a\u9054\u306e\u898b\u901a\u3057\u306f\u3069\u306e\u7a0b\u5ea6\u3067\u3059\u304b\uff1f\",\"acceptedAnswer\":{\"@type\":\"Answer\",\"text\":\"\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u75c7\u4f8b\u306b\u306f\u5e45\u304c\u3042\u308a\u3001\u91cd\u5ea6\u306e\u767a\u9054\u9045\u6ede\u3084\u77e5\u7684\u969c\u5bb3\u3092\u4f34\u3046\u3053\u3068\u304c\u4e00\u822c\u7684\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u75c7\u72b6\u306e\u91cd\u3055\u3084\u767a\u9054\u306e\u30da\u30fc\u30b9\u306f\u304a\u5b50\u3055\u3093\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u307e\u3059\u3002\u751f\u307e\u308c\u3066\u3059\u3050\u306e\u6642\u70b9\u3067\u5c06\u6765\u306e\u898b\u901a\u3057\u3092\u3072\u3068\u3064\u306b\u65ad\u5b9a\u3059\u308b\u3053\u3068\u306f\u96e3\u3057\u304f\u3001\u6210\u9577\u306e\u7d4c\u904e\u3092\u898b\u306a\u304c\u3089\u3001\u305d\u306e\u6642\u3005\u306b\u5408\u3063\u305f\u7642\u80b2\u3084\u30b1\u30a2\u3092\u7d44\u307f\u7acb\u3066\u3066\u3044\u304f\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002\"}},\n 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{\"@type\":\"Question\",\"name\":\"\u5bb6\u65cf\u3068\u3057\u3066\u307e\u305a\u4f55\u3092\u3059\u308c\u3070\u3088\u3044\u3067\u3059\u304b\uff1f\",\"acceptedAnswer\":{\"@type\":\"Answer\",\"text\":\"\u307e\u305a\u306f\u8a3a\u65ad\u304c\u3064\u3044\u305f\u75c5\u9662\u306e\u5c0f\u5150\u795e\u7d4c\u79d1\u3084\u907a\u4f1d\u5b50\u8a3a\u7642\u79d1\u3067\u3001\u4eca\u5f8c\u306e\u7d4c\u904e\u89b3\u5bdf\u306e\u8a08\u753b\u3092\u78ba\u8a8d\u3057\u307e\u3057\u3087\u3046\u3002\u3042\u308f\u305b\u3066\u3001\u81e8\u5e8a\u907a\u4f1d\u5c02\u9580\u533b\u306b\u3088\u308b\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3084\u3001\u5730\u57df\u306e\u7642\u80b2\u30bb\u30f3\u30bf\u30fc\u3078\u306e\u76f8\u8ac7\u3092\u65e9\u3081\u306b\u59cb\u3081\u308b\u3053\u3068\u3092\u304a\u52e7\u3081\u3057\u307e\u3059\u3002\u5236\u5ea6\u9762\u306e\u7a93\u53e3\u304c\u5206\u304b\u3089\u306a\u3044\u3068\u304d\u306f\u3001\u51fa\u751f\u3057\u305f\u75c5\u9662\u306e\u30bd\u30fc\u30b7\u30e3\u30eb\u30ef\u30fc\u30ab\u30fc\u3084\u5730\u57df\u306e\u4fdd\u5065\u30bb\u30f3\u30bf\u30fc\u306b\u805e\u3044\u3066\u307f\u3066\u304f\u3060\u3055\u3044\u3002\"}}\n 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