{"id":123060,"date":"2026-01-16T09:39:48","date_gmt":"2026-01-16T00:39:48","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=123060"},"modified":"2026-07-26T05:45:45","modified_gmt":"2026-07-25T20:45:45","slug":"cortical-dysplasia-complex-brain-malformations-6-zic1-guide","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/cortical-dysplasia-complex-brain-malformations-6-zic1-guide\/","title":{"rendered":"\u8133\u76ae\u8cea\u7570\u5f62\u6210\u3068\u4ed6\u306e\u8133\u5947\u5f62\u3092\u4f34\u3046\u8907\u5408\u4f536\u578b\uff08CDCBM6\uff09"},"content":{"rendered":"<p>\u533b\u5e2b\u304b\u3089Cortical Dysplasia, Complex, with Other Brain Malformations 6\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<p><strong>\u3053\u306e\u75c5\u6c17\u306f\u3001ZIC1\u3068\u3044\u3046\u907a\u4f1d\u5b50\u306e\u5909\u5316\u306b\u3088\u3063\u3066\u3001\u5927\u8133\u3084\u5c0f\u8133\u306e\u5f62\u304c\u3046\u307e\u304f\u4f5c\u3089\u308c\u305a\u3001\u767a\u9054\u306e\u9045\u308c\u3084\u3066\u3093\u304b\u3093\u306a\u3069\u306e\u75c7\u72b6\u304c\u73fe\u308c\u308b\u5148\u5929\u6027\u306e\u75be\u60a3\u3067\u3059\u3002<\/strong>\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\u8a3a\u65ad\u304c\u4e0b\u3063\u305f\u306e\u3067\u3057\u3087\u3046\u3002\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<\/p>\n<p>\u4e16\u754c\u7684\u306b\u898b\u3066\u3082\u5831\u544a\u6570\u304c\u5c11\u306a\u3044\u75be\u60a3\u3067\u3042\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<\/p>\n<p>\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u3054\u76f8\u8ac7\u3092\u4f3a\u3046\u73fe\u5834\u3067\u306f\u3001\u8033\u6163\u308c\u306a\u3044\u75c5\u540d\u3092\u544a\u3052\u3089\u308c\u3066\u8a00\u8449\u3092\u5931\u3046\u3054\u5bb6\u65cf\u306b\u3001\u3053\u308c\u307e\u3067\u4f55\u5ea6\u3082\u51fa\u4f1a\u3063\u3066\u304d\u307e\u3057\u305f\u3002\u533b\u5e2b\u3067\u3042\u3063\u3066\u3082\u3001\u5c0f\u5150\u795e\u7d4c\u3084\u81e8\u5e8a\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<p>\u3053\u306e\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\u4f536\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\u3066CDCBM6\uff08\u30b7\u30fc\u30fb\u30c7\u30a3\u30fc\u30fb\u30b7\u30fc\u30fb\u30d3\u30fc\u30fb\u30a8\u30e0\u30fb\u30b7\u30c3\u30af\u30b9\uff09\u3068\u547c\u3070\u308c\u308b\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\u3059\u3002<\/p>\n<p>\u8133\u5947\u5f62\u3068\u3044\u3046\u8a00\u8449\u30846\u578b\u3068\u3044\u3046\u6570\u5b57\u306b\u5727\u5012\u3055\u308c\u3066\u3057\u307e\u3046\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002\u305f\u3060\u3001\u3053\u306e\u6570\u5b57\u306f\u767a\u898b\u3055\u308c\u305f\u9806\u756a\u3084\u907a\u4f1d\u5b50\u306e\u7a2e\u985e\u3092\u533a\u5225\u3059\u308b\u305f\u3081\u306e\u756a\u53f7\u3067\u3042\u308a\u3001\u91cd\u75c7\u5ea6\u3092\u8868\u3059\u3082\u306e\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u539f\u56e0\u304c\u907a\u4f1d\u5b50\u306b\u3042\u308b\u3068\u5206\u304b\u3063\u305f\u3053\u3068\u306f\u3001\u3053\u308c\u304b\u3089\u306e\u30b1\u30a2\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<div 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1.2em;\">\n<li>CDCBM6\uff08ZIC1\u907a\u4f1d\u5b50\u5909\u7570\uff09\u304c\u3069\u306e\u3088\u3046\u306a\u75c5\u6c17\u304b\u3001\u75c5\u540d\u306e\u610f\u5473<\/li>\n<li>\u8133\u306e\u69cb\u9020\u7684\u7279\u5fb4\u30fb\u795e\u7d4c\u75c7\u72b6\u30fb\u767a\u9054\u9762\u3067\u307f\u3089\u308c\u308b\u4e3b\u306a\u75c7\u72b6<\/li>\n<li>ZIC1\u907a\u4f1d\u5b50\u306e\u5f79\u5272\u3068\u3001\u75c7\u72b6\u304c\u73fe\u308c\u308b\u4ed5\u7d44\u307f<\/li>\n<li>\u8a3a\u65ad\u306b\u5fc5\u8981\u306a\u691c\u67fb\u3068\u3001\u4f3c\u305f\u75c5\u6c17\u3068\u306e\u898b\u5206\u3051\u65b9<\/li>\n<li>\u3066\u3093\u304b\u3093\u30fb\u6c34\u982d\u75c7\u3078\u306e\u5bfe\u5fdc\u3084\u7642\u80b2\u306a\u3069\u6cbb\u7642\u306e\u9078\u629e\u80a2<\/li>\n<li>\u6b21\u306e\u3054\u598a\u5a20\u3092\u8003\u3048\u308b\u3068\u304d\u306b\u77e5\u3063\u3066\u304a\u304d\u305f\u3044\u76f8\u8ac7\u5148<\/li>\n<\/ul>\n<\/div>\n\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_85 counter-hierarchy ez-toc-counter ez-toc-grey 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\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-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cortical-dysplasia-complex-brain-malformations-6-zic1-guide\/#3_%E7%99%BA%E9%81%94%E3%81%A8%E7%9F%A5%E8%83%BD%E3%81%AE%E7%97%87%E7%8A%B6\" >3. \u767a\u9054\u3068\u77e5\u80fd\u306e\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-6-zic1-guide\/#4_%E3%81%9D%E3%81%AE%E4%BB%96%E3%81%AE%E8%BA%AB%E4%BD%93%E7%97%87%E7%8A%B6\" >4. \u305d\u306e\u4ed6\u306e\u8eab\u4f53\u75c7\u72b6<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cortical-dysplasia-complex-brain-malformations-6-zic1-guide\/#%E5%8E%9F%E5%9B%A0\" >\u539f\u56e0<\/a><ul 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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-6-zic1-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\/cortical-dysplasia-complex-brain-malformations-6-zic1-guide\/#%E6%AC%A1%E3%81%AE%E3%81%94%E5%A6%8A%E5%A8%A0%E3%81%AB%E5%90%91%E3%81%91%E3%81%A6%E3%80%81%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\" >\u6b21\u306e\u3054\u598a\u5a20\u306b\u5411\u3051\u3066\u3001\u5bb6\u65cf\u304c\u4eca\u3067\u304d\u308b\u3053\u3068<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cortical-dysplasia-complex-brain-malformations-6-zic1-guide\/#%E6%B2%BB%E7%99%82%E3%81%A8%E7%AE%A1%E7%90%86\" >\u6cbb\u7642\u3068\u7ba1\u7406<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cortical-dysplasia-complex-brain-malformations-6-zic1-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-6-zic1-guide\/#2_%E6%B0%B4%E9%A0%AD%E7%97%87%E3%81%AE%E6%B2%BB%E7%99%82\" >2. \u6c34\u982d\u75c7\u306e\u6cbb\u7642<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-19\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cortical-dysplasia-complex-brain-malformations-6-zic1-guide\/#3_%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\" >3. \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-20\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cortical-dysplasia-complex-brain-malformations-6-zic1-guide\/#4_%E6%A0%84%E9%A4%8A%E3%81%A8%E5%91%BC%E5%90%B8%E3%81%AE%E7%AE%A1%E7%90%86\" >4. \u6804\u990a\u3068\u547c\u5438\u306e\u7ba1\u7406<\/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-6-zic1-guide\/#%E3%82%88%E3%81%8F%E3%81%82%E3%82%8B%E8%B3%AA%E5%95%8F\" >\u3088\u304f\u3042\u308b\u8cea\u554f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-22\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cortical-dysplasia-complex-brain-malformations-6-zic1-guide\/#%E3%81%BE%E3%81%A8%E3%82%81\" >\u307e\u3068\u3081<\/a><\/li><\/ul><\/nav><\/div>\n<h2><span class=\"ez-toc-section\" id=\"%E6%A6%82%E8%A6%81%EF%BC%9A%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E7%97%85%E6%B0%97%E3%81%8B%E3%80%90%E7%B5%90%E8%AB%96%E3%80%91\"><\/span>\u6982\u8981\uff1a\u3069\u306e\u3088\u3046\u306a\u75c5\u6c17\u304b\u3010\u7d50\u8ad6\u3011<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p><strong>\u8133\u76ae\u8cea\u7570\u5f62\u6210\u3068\u4ed6\u306e\u8133\u5947\u5f62\u3092\u4f34\u3046\u8907\u5408\u4f536\u578b\uff08CDCBM6\uff09\u306f\u3001ZIC1\u907a\u4f1d\u5b50\u306e\u5909\u5316\u306b\u3088\u308a\u3001\u5927\u8133\u76ae\u8cea\uff08\u8133\u306e\u8868\u9762\uff09\u3068\u5c0f\u8133\uff08\u30d0\u30e9\u30f3\u30b9\u3092\u53f8\u308b\u90e8\u5206\uff09\u306e\u5f62\u6210\u306b\u5f71\u97ff\u304c\u51fa\u308b\u3001\u751f\u307e\u308c\u3064\u304d\u306e\u75be\u60a3\u3067\u3059\u3002<\/strong>\u307e\u305a\u3001\u3053\u306e\u9577\u3044\u75c5\u540d\u3092\u5206\u89e3\u3057\u3066\u7406\u89e3\u3057\u3066\u3044\u304d\u307e\u3057\u3087\u3046\u3002<\/p>\n<table>\n<thead>\n<tr><th>\u7528\u8a9e<\/th><th>\u610f\u5473<\/th><\/tr>\n<\/thead>\n<tbody>\n<tr><td>\u8133\u76ae\u8cea\u7570\u5f62\u6210<\/td><td>\u795e\u7d4c\u7d30\u80de\u304c\u8133\u8868\u9762\u306b\u6b63\u3057\u304f\u79fb\u52d5\u30fb\u6574\u5217\u3067\u304d\u305a\u3001\u3057\u308f\u306e\u539a\u3055\u3084\u5f62\u304c\u4e71\u308c\u305f\u72b6\u614b<\/td><\/tr>\n<tr><td>\u4ed6\u306e\u8133\u5947\u5f62\u3092\u4f34\u3046<\/td><td>\u5927\u8133\u76ae\u8cea\u3060\u3051\u3067\u306a\u304f\u3001\u5c0f\u8133\u3084\u8133\u6881\uff08\u5de6\u53f3\u306e\u8133\u3092\u3064\u306a\u3050\u90e8\u5206\uff09\u306b\u3082\u69cb\u9020\u7684\u7279\u5fb4\u304c\u307f\u3089\u308c\u308b\u3053\u3068<\/td><\/tr>\n<tr><td>\u8907\u5408\u4f53<\/td><td>\u8907\u6570\u306e\u75c7\u72b6\u304c\u7d44\u307f\u5408\u308f\u3055\u3063\u3066\u73fe\u308c\u308b\u75c7\u5019\u7fa4\u3067\u3042\u308b\u3053\u3068<\/td><\/tr>\n<tr><td>6\u578b<\/td><td>\u539f\u56e0\u907a\u4f1d\u5b50\u3054\u3068\u306b\u5272\u308a\u632f\u3089\u308c\u305f\u5206\u985e\u756a\u53f7\uff08ZIC1\u907a\u4f1d\u5b50\u5909\u7570\u306b\u3088\u308b\u3082\u306e\u3092\u6307\u3059\uff09<\/td><\/tr>\n<\/tbody>\n<\/table>\n<p>\u3064\u307e\u308aCDCBM6\u306f\u3001ZIC1\u907a\u4f1d\u5b50\u306e\u5909\u5316\u306b\u3088\u308a\u5927\u8133\u3084\u5c0f\u8133\u306e\u69cb\u9020\u304c\u3046\u307e\u304f\u4f5c\u3089\u308c\u305a\u3001\u767a\u9054\u306e\u9045\u308c\u3084\u3066\u3093\u304b\u3093\u306a\u3069\u306e\u75c7\u72b6\u304c\u73fe\u308c\u308b\u75c5\u6c17\u3067\u3059\u3002\u6b63\u78ba\u306a\u767a\u75c7\u983b\u5ea6\u306f\u660e\u3089\u304b\u306b\u306a\u3063\u3066\u304a\u3089\u305a\u3001\u4e16\u754c\u3067\u3082\u5831\u544a\u4f8b\u306f\u9650\u3089\u308c\u305f\u5e0c\u5c11\u75be\u60a3\u3067\u3059\u3002<\/p>\n<p>\u306a\u304a\u3001\u300cCDCBM6\u300d\u3068\u3044\u3046\u547c\u3073\u65b9\u306f\u672c\u8a18\u4e8b\u306e\u30bf\u30a4\u30c8\u30eb\u306b\u3082\u7528\u3044\u3066\u3044\u307e\u3059\u3002\u305f\u3060\u3001\u907a\u4f1d\u5b50\u8a3a\u7642\u306e\u73fe\u5834\u3067\u3053\u306e\u75be\u60a3\u3092\u8abf\u3079\u308b\u969b\u306f\u3001ZIC1\u907a\u4f1d\u5b50\u3068OMIM\u767b\u9332\u756a\u53f7#618736\u304c\u624b\u304c\u304b\u308a\u3067\u3059\u3002<\/p>\n<p>\u56fd\u969b\u7684\u306a\u533b\u5b66\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\uff08OMIM\uff09\u3067\u306f\u3001ZIC1\u907a\u4f1d\u5b50\u5909\u7570\u306b\u3088\u308b\u8133\u69cb\u9020\u7570\u5e38\u306f<a href=\"https:\/\/omim.org\/entry\/618736\" target=\"_blank\" rel=\"noopener\">Structural Brain Anomalies with Impaired Intellectual Development and Craniosynostosis\uff08BAIDCS\u3001OMIM #618736\uff09<\/a>\u3068\u3057\u3066\u767b\u9332\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n<p>\u4e00\u65b9\u3001\u540c\u3058\u300cCDCBM6\u300d\u3068\u3044\u3046\u5206\u985e\u756a\u53f7\u3092\u7528\u3044\u305f\u5225\u306e\u75be\u60a3\u5358\u4f4d\uff08<a href=\"https:\/\/omim.org\/entry\/615771\" target=\"_blank\" rel=\"noopener\">OMIM #615771<\/a>\uff09\u306fTUBB\u907a\u4f1d\u5b50\u306e\u5909\u7570\u304c\u539f\u56e0\u3067\u3001\u75c7\u72b6\u306e\u4e00\u90e8\u306f\u4f3c\u3066\u3044\u3066\u3082\u539f\u56e0\u907a\u4f1d\u5b50\u306f\u7570\u306a\u308a\u307e\u3059\u3002\u547c\u3073\u65b9\u306e\u63fa\u308c\u306b\u3088\u308b\u6df7\u540c\u3092\u907f\u3051\u308b\u305f\u3081\u306b\u3082\u3001\u78ba\u5b9a\u8a3a\u65ad\u3092\u53d7\u3051\u305f\u969b\u306f\u3069\u3061\u3089\u306e\u907a\u4f1d\u5b50\u304c\u539f\u56e0\u306a\u306e\u304b\u3001\u4e3b\u6cbb\u533b\u306b\u76f4\u63a5\u78ba\u8a8d\u3057\u3066\u304a\u304f\u3068\u5b89\u5fc3\u3067\u3059\u3002<\/p>\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<h2><span class=\"ez-toc-section\" id=\"%E4%B8%BB%E3%81%AA%E7%97%87%E7%8A%B6\"><\/span>\u4e3b\u306a\u75c7\u72b6<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p><strong>CDCBM6\u306e\u75c7\u72b6\u306f\u3001\u8133\u306e\u69cb\u9020\u7684\u7279\u5fb4\u30fb\u795e\u7d4c\u5b66\u7684\u75c7\u72b6\u30fb\u767a\u9054\u306e\u9045\u308c\u3068\u3044\u30463\u3064\u306e\u5074\u9762\u306b\u5927\u304d\u304f\u5206\u3051\u3089\u308c\u307e\u3059\u3002<\/strong>\u304a\u5b50\u3055\u3093\u306b\u3088\u3063\u3066\u75c7\u72b6\u306e\u91cd\u3055\u3084\u51fa\u65b9\u306f\u7570\u306a\u308a\u307e\u3059\u304c\u3001\u3053\u308c\u307e\u3067\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<figure class=\"wp-block-image aligncenter\" style=\"margin:1.8em 0;\">\n<svg role=\"img\" aria-label=\"CDCBM6\u3067\u69cb\u9020\u7684\u306a\u5909\u5316\u304c\u307f\u3089\u308c\u308b\u4e3b\u306a\u8133\u306e\u90e8\u4f4d\u3092\u793a\u3059\u6a21\u5f0f\u56f3\u3002\u5927\u8133\u76ae\u8cea\u30fb\u8133\u6881\u30fb\u5c0f\u8133\u306e3\u304b\u6240\u3092\u8272\u5206\u3051\u3057\u3066\u8868\u793a\u3002\" viewBox=\"0 0 640 320\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" style=\"width:100%;max-width:640px;height:auto;display:block;margin:0 auto;background:#fafcff;border-radius:12px;\">\n<style>\n  .cdz-label{font-family:'Hiragino Sans','Noto Sans JP',sans-serif;font-size:16px;fill:#333;}\n  .cdz-sub{font-family:'Hiragino Sans','Noto Sans JP',sans-serif;font-size:12.5px;fill:#555;}\n  .cdz-title{font-family:'Hiragino Sans','Noto Sans JP',sans-serif;font-size:15px;fill:#2b4a6f;font-weight:bold;}\n<\/style>\n<text x=\"320\" y=\"28\" text-anchor=\"middle\" class=\"cdz-title\">CDCBM6\u3067\u69cb\u9020\u7684\u306a\u5909\u5316\u304c\u307f\u3089\u308c\u308b\u4e3b\u306a\u90e8\u4f4d\uff08\u6a21\u5f0f\u56f3\uff09<\/text>\n<ellipse cx=\"260\" cy=\"150\" rx=\"150\" ry=\"105\" fill=\"#eaf2ff\" stroke=\"#5b9bd5\" stroke-width=\"3\"\/>\n<path d=\"M 150 130 Q 200 95 260 120 Q 320 95 370 130\" fill=\"none\" stroke=\"#5b9bd5\" stroke-width=\"4\" stroke-linecap=\"round\"\/>\n<ellipse cx=\"255\" cy=\"235\" rx=\"60\" ry=\"30\" fill=\"#ffe3ee\" stroke=\"#e8608a\" stroke-width=\"3\"\/>\n<rect x=\"215\" y=\"150\" width=\"90\" height=\"26\" rx=\"8\" fill=\"#fff3d6\" stroke=\"#e0a638\" stroke-width=\"2.5\"\/>\n<line x1=\"150\" y1=\"120\" x2=\"60\" y2=\"70\" stroke=\"#5b9bd5\" stroke-width=\"2\"\/>\n<circle cx=\"150\" cy=\"120\" r=\"5\" fill=\"#5b9bd5\"\/>\n<text x=\"55\" y=\"55\" text-anchor=\"start\" class=\"cdz-label\">\u2460 \u5927\u8133\u76ae\u8cea<\/text>\n<text x=\"55\" y=\"75\" text-anchor=\"start\" class=\"cdz-sub\">\u3057\u308f\u306e\u539a\u3055\u30fb\u5f62\u306e\u4e71\u308c<\/text>\n<line x1=\"255\" y1=\"150\" x2=\"460\" y2=\"95\" stroke=\"#e0a638\" stroke-width=\"2\"\/>\n<circle cx=\"260\" cy=\"163\" r=\"5\" fill=\"#e0a638\"\/>\n<text x=\"465\" y=\"80\" text-anchor=\"start\" class=\"cdz-label\">\u2461 \u8133\u6881<\/text>\n<text x=\"465\" y=\"100\" text-anchor=\"start\" class=\"cdz-sub\">\u5de6\u53f3\u306e\u8133\u3092\u3064\u306a\u3050\u90e8\u5206\u306e\u6b20\u640d\u30fb\u4f4e\u5f62\u6210<\/text>\n<line x1=\"290\" y1=\"240\" x2=\"460\" y2=\"255\" stroke=\"#e8608a\" stroke-width=\"2\"\/>\n<circle cx=\"285\" cy=\"238\" r=\"5\" fill=\"#e8608a\"\/>\n<text x=\"465\" y=\"250\" text-anchor=\"start\" class=\"cdz-label\">\u2462 \u5c0f\u8133<\/text>\n<text x=\"465\" y=\"270\" text-anchor=\"start\" class=\"cdz-sub\">\u30c0\u30f3\u30c7\u30a3\u30fc\u30fb\u30a6\u30a9\u30fc\u30ab\u30fc\u5947\u5f62\u306a\u3069<\/text>\n<text x=\"320\" y=\"305\" text-anchor=\"middle\" class=\"cdz-sub\">\u203b \u5b9f\u969b\u306e\u75c7\u72b6\u306e\u73fe\u308c\u65b9\u30fb\u7a0b\u5ea6\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059<\/text>\n<\/svg>\n<figcaption style=\"text-align:center;font-size:0.85em;color:#666;margin-top:0.5em;\">CDCBM6\u3067\u5909\u5316\u304c\u307f\u3089\u308c\u308b\u4e3b\u306a\u8133\u306e\u90e8\u4f4d\uff08\u6a21\u5f0f\u56f3\uff09<\/figcaption>\n<\/figure>\n\n<h3><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%E8%A6%8B%E3%81%A4%E3%81%8B%E3%82%8B%E3%82%82%E3%81%AE%EF%BC%89\"><\/span>1. \u8133\u306e\u69cb\u9020\u7684\u306a\u7279\u5fb4\uff08\u753b\u50cf\u691c\u67fb\u3067\u898b\u3064\u304b\u308b\u3082\u306e\uff09<span class=\"ez-toc-section-end\"><\/span><\/h3>\n<p>MRI\u691c\u67fb\u3067\u5206\u304b\u308b\u8133\u306e\u5f62\u306e\u7279\u5fb4\u306f\u3001\u3053\u306e\u75c5\u6c17\u3092\u7591\u3046\u6c7a\u3081\u624b\u3068\u306a\u308b\u8981\u7d20\u3067\u3059\u3002<\/p>\n<ul>\n<li>\u30c0\u30f3\u30c7\u30a3\u30fc\u30fb\u30a6\u30a9\u30fc\u30ab\u30fc\u5947\u5f62\uff1a\u5c0f\u8133\u866b\u90e8\uff08\u5c0f\u8133\u306e\u4e2d\u592e\u90e8\u5206\uff09\u304c\u5c0f\u3055\u3044\u3001\u307e\u305f\u306f\u6b20\u3051\u3066\u304a\u308a\u3001\u5468\u56f2\u306b\u8133\u810a\u9ac4\u6db2\u304c\u305f\u307e\u308b\u56a2\u80de\u304c\u3067\u304d\u308b\u72b6\u614b\u3002\u904b\u52d5\u306e\u30d0\u30e9\u30f3\u30b9\u3084\u5354\u8abf\u904b\u52d5\u306b\u5f71\u97ff\u304c\u51fa\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u6c34\u982d\u75c7\u3092\u5408\u4f75\u3057\u3084\u3059\u304f\u306a\u308a\u307e\u3059\u3002<\/li>\n<li>\u8133\u6881\u306e\u6b20\u640d\u30fb\u4f4e\u5f62\u6210\uff1a\u5de6\u53f3\u306e\u8133\u3092\u3064\u306a\u3050\u67b6\u3051\u6a4b\u3067\u3042\u308b\u8133\u6881\u304c\u3001\u8584\u3044\u30fb\u90e8\u5206\u7684\u306b\u6b20\u3051\u3066\u3044\u308b\u30fb\u5b8c\u5168\u306b\u306a\u3044\u306a\u3069\u3001\u7a0b\u5ea6\u306f\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<li>\u5927\u8133\u76ae\u8cea\u306e\u5f62\u6210\u7570\u5e38\uff1a\u3057\u308f\u304c\u5c11\u306a\u304f\u5e73\u5766\u306b\u8fd1\u3044\u6ed1\u8133\u75c7\u306e\u3088\u3046\u306a\u72b6\u614b\u3084\u3001\u3057\u308f\u304c\u539a\u304f\u306a\u308b\u591a\u5c0f\u8133\u56de\u30fb\u539a\u8133\u56de\u304c\u307f\u3089\u308c\u307e\u3059\u3002<\/li>\n<li>\u8133\u5ba4\u62e1\u5927\uff1a\u8133\u306e\u4e2d\u306b\u3042\u308b\u8133\u5ba4\u3068\u3044\u3046\u90e8\u5c4b\u304c\u5927\u304d\u304f\u306a\u3063\u3066\u3044\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<p>\u3053\u308c\u3089\u306e\u6240\u898b\u304c\u8907\u6570\u7d44\u307f\u5408\u308f\u3055\u3063\u3066\u78ba\u8a8d\u3055\u308c\u305f\u6bb5\u968e\u3067\u3001\u907a\u4f1d\u5b50\u75be\u60a3\u304c\u7591\u308f\u308c\u308b\u6d41\u308c\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n<h3><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<p>\u8133\u306e\u69cb\u9020\u306e\u5909\u5316\u306b\u4f34\u3044\u3001\u69d8\u3005\u306a\u795e\u7d4c\u75c7\u72b6\u304c\u73fe\u308c\u307e\u3059\u3002\u4e73\u5150\u671f\u306f\u4f53\u304c\u3075\u306b\u3083\u3075\u306b\u3083\u3068\u3057\u3066\u67d4\u3089\u304b\u3044\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u304c\u975e\u5e38\u306b\u591a\u304f\u307f\u3089\u308c\u3001\u62b1\u3063\u3053\u3057\u305f\u969b\u306b\u305a\u3063\u3057\u308a\u3068\u91cd\u304f\u611f\u3058\u305f\u308a\u3001\u9996\u3059\u308f\u308a\u304c\u9045\u308c\u305f\u308a\u3059\u308b\u539f\u56e0\u306b\u306a\u308a\u307e\u3059\u3002\u6210\u9577\u3068\u3068\u3082\u306b\u3001\u9006\u306b\u624b\u8db3\u304c\u7a81\u3063\u5f35\u3063\u3066\u786c\u304f\u306a\u308b\u75d9\u7e2e\u304c\u307f\u3089\u308c\u308b\u3088\u3046\u306b\u306a\u308b\u30b1\u30fc\u30b9\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n<p><strong>\u3066\u3093\u304b\u3093\u767a\u4f5c<\/strong>\u306f\u591a\u304f\u306e\u60a3\u8005\u3055\u3093\u3067\u8a8d\u3081\u3089\u308c\u3001\u767a\u75c7\u6642\u671f\u306f\u4e73\u5150\u671f\u304b\u3089\u5e7c\u5150\u671f\u3068\u5e45\u5e83\u3044\u3067\u3059\u3002\u4f53\u306e\u4e00\u90e8\u304c\u30d4\u30af\u3064\u304f\u767a\u4f5c\u3001\u610f\u8b58\u304c\u307c\u3093\u3084\u308a\u3059\u308b\u767a\u4f5c\u3001\u5168\u8eab\u304c\u30ac\u30af\u30ac\u30af\u3059\u308b\u767a\u4f5c\u306a\u3069\u3001\u30bf\u30a4\u30d7\u306f\u69d8\u3005\u3067\u3059\u3002\u4e00\u3064\u306e\u85ac\u3067\u767a\u4f5c\u304c\u6b62\u307e\u3089\u305a\u3001\u8907\u6570\u306e\u85ac\u3092\u4f75\u7528\u3057\u3066\u3082\u96e3\u6cbb\u6027\u3066\u3093\u304b\u3093\u3068\u306a\u308b\u3053\u3068\u3082\u73cd\u3057\u304f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n<p>\u982d\u306e\u5927\u304d\u3055\u304c\u5e74\u9f62\u5e73\u5747\u3088\u308a\u6975\u7aef\u306b\u5c0f\u3055\u3044\u5c0f\u982d\u75c7\u304c\u307f\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308b\u4e00\u65b9\u3001\u6c34\u982d\u75c7\u3092\u5408\u4f75\u3057\u3066\u3044\u308b\u5834\u5408\u306f\u9006\u306b\u5927\u982d\u75c7\u3068\u306a\u308b\u3053\u3068\u3082\u3042\u308a\u3001\u500b\u4eba\u5dee\u306e\u5927\u304d\u3044\u75c5\u6c17\u3060\u3068\u3044\u3048\u308b\u3067\u3057\u3087\u3046\u3002<\/p>\n\n<h3><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%97%87%E7%8A%B6\"><\/span>3. \u767a\u9054\u3068\u77e5\u80fd\u306e\u75c7\u72b6<span class=\"ez-toc-section-end\"><\/span><\/h3>\n<p>\u8133\u5168\u4f53\u306e\u5f62\u6210\u306b\u95a2\u308f\u308b\u75c5\u6c17\u3067\u3042\u308b\u305f\u3081\u3001\u767a\u9054\u3078\u306e\u5f71\u97ff\u306f\u907f\u3051\u3089\u308c\u307e\u305b\u3093\u3002\u9996\u3059\u308f\u308a\u30fb\u304a\u5ea7\u308a\u30fb\u30cf\u30a4\u30cf\u30a4\u30fb\u6b69\u884c\u3068\u3044\u3063\u305f\u904b\u52d5\u767a\u9054\u306f\u4e00\u822c\u7684\u306a\u30da\u30fc\u30b9\u3088\u308a\u3086\u3063\u304f\u308a\u3067\u3001\u6b69\u884c\u306e\u7372\u5f97\u306b\u9577\u3044\u6642\u9593\u3092\u8981\u3059\u308b\u304b\u3001\u8eca\u6905\u5b50\u306a\u3069\u306e\u88dc\u52a9\u5177\u304c\u5fc5\u8981\u306b\u306a\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n<p>\u8a00\u8449\u306e\u7406\u89e3\u3084\u767a\u8a9e\u306b\u3082\u9045\u308c\u304c\u307f\u3089\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\u3067\u3059\u3002\u8a00\u8449\u306b\u3088\u308b\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u304c\u96e3\u3057\u304f\u3066\u3082\u3001\u8868\u60c5\u3084\u58f0\u306e\u30c8\u30fc\u30f3\u3001\u8eab\u632f\u308a\u3067\u611f\u60c5\u3092\u4f1d\u3048\u308b\u3053\u3068\u306f\u5341\u5206\u306b\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n<h3><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%97%87%E7%8A%B6\"><\/span>4. \u305d\u306e\u4ed6\u306e\u8eab\u4f53\u75c7\u72b6<span class=\"ez-toc-section-end\"><\/span><\/h3>\n<p>\u304a\u3067\u3053\u304c\u5e83\u3044\u3001\u8033\u306e\u4f4d\u7f6e\u304c\u4f4e\u3044\u3001\u9f3b\u304c\u77ed\u3044\u306a\u3069\u3001\u3044\u304f\u3064\u304b\u306e\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\u4e00\u76ee\u3067CDCBM6\u7279\u6709\u3068\u5206\u304b\u308b\u307b\u3069\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n<p>\u8fd1\u5e74\u306e\u56fd\u969b\u5171\u540c\u7814\u7a76\u3067\u306f\u3001ZIC1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308a\u982d\u84cb\u9aa8\u306e\u7e2b\u5408\u90e8\u5206\u304c\u901a\u5e38\u3088\u308a\u65e9\u304f\u7652\u5408\u3059\u308b\u982d\u84cb\u9aa8\u7e2b\u5408\u65e9\u671f\u7652\u5408\u75c7\uff08\u982d\u84cb\u9aa8\u65e9\u671f\u7652\u5408\uff09\u3092\u4f34\u3046\u30b1\u30fc\u30b9\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n<p>\u305f\u3060\u30572026\u5e74\u306b\u767a\u8868\u3055\u308c\u305f<a href=\"https:\/\/www.gimjournal.org\/article\/S1098-3600(26)00903-2\/fulltext\" target=\"_blank\" rel=\"noopener\">Genetics in Medicine\u306e\u7814\u7a76<\/a>\u3067\u306f\u300130\u540d\u306e\u75c7\u4f8b\u306e\u3046\u3061\u7e2b\u5408\u306e\u7652\u5408\u3092\u4f34\u308f\u306a\u3044\u30b1\u30fc\u30b9\u3082\u76f8\u5f53\u6570\u542b\u307e\u308c\u3066\u304a\u308a\u3001\u5fc5\u305a\u3057\u3082\u5168\u54e1\u306b\u5171\u901a\u3059\u308b\u7279\u5fb4\u3067\u306f\u306a\u3044\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u982d\u306e\u5f62\u306b\u3064\u3044\u3066\u6c17\u306b\u306a\u308b\u70b9\u304c\u3042\u308c\u3070\u3001\u8133\u795e\u7d4c\u5916\u79d1\u3084\u5f62\u6210\u5916\u79d1\u3067\u306e\u8a55\u4fa1\u3082\u9078\u629e\u80a2\u306e\u4e00\u3064\u3067\u3059\u3002<\/p>\n<p>\u8133\u306e\u6a5f\u80fd\u306b\u95a2\u9023\u3057\u3066\u3001\u898b\u3066\u3044\u308b\u3082\u306e\u3092\u3046\u307e\u304f\u51e6\u7406\u3067\u304d\u306a\u3044\u76ae\u8cea\u8996\u899a\u969c\u5bb3\u3084\u3001\u96e3\u8074\u304c\u307f\u3089\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2><span class=\"ez-toc-section\" id=\"%E5%8E%9F%E5%9B%A0\"><\/span>\u539f\u56e0<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p><strong>CDCBM6\u306e\u539f\u56e0\u306f\u3001\u7b2c3\u756a\u67d3\u8272\u4f53\uff083q24\uff09\u306b\u3042\u308bZIC1\u3068\u3044\u3046\u907a\u4f1d\u5b50\u306e\u5909\u5316\u3067\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\u305d\u306e\u7406\u7531\u306f\u8133\u306e\u8a2d\u8a08\u56f3\u3067\u3042\u308b\u907a\u4f1d\u5b50\u306e\u50cd\u304d\u306b\u3042\u308a\u307e\u3059\u3002<\/p>\n\n<h3><span class=\"ez-toc-section\" id=\"ZIC1%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AE%E5%BD%B9%E5%89%B2\"><\/span>ZIC1\u907a\u4f1d\u5b50\u306e\u5f79\u5272<span class=\"ez-toc-section-end\"><\/span><\/h3>\n<p>ZIC1\uff08\u30b8\u30c3\u30af\u30fb\u30ef\u30f3\uff09\u306f\u3001\u30b8\u30f3\u30af\u30d5\u30a3\u30f3\u30ac\u30fc\u30bf\u30f3\u30d1\u30af\u8cea\u3068\u3044\u3046\u7a2e\u985e\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u4f5c\u308b\u305f\u3081\u306e\u8a2d\u8a08\u56f3\u3067\u3059\u3002<a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=ZIC1\" target=\"_blank\" rel=\"noopener\">GeneCards\u306e\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9<\/a>\u306b\u3088\u308b\u3068\u3001ZIC1\u306f\u8d64\u3061\u3083\u3093\u304c\u80ce\u5185\u3067\u80b2\u3064\u521d\u671f\u6bb5\u968e\u306b\u304a\u3044\u3066\u3001\u8133\u3068\u9aa8\u683c\u306e\u767a\u9054\u3092\u7d71\u62ec\u3059\u308b\u53f8\u4ee4\u5854\u306e\u3088\u3046\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n<p>\u5177\u4f53\u7684\u306a\u5f79\u5272\u306f\u6b21\u306e3\u3064\u306b\u6574\u7406\u3067\u304d\u307e\u3059\u3002<\/p>\n<table>\n<thead>\n<tr><th>\u50cd\u304d<\/th><th>\u5185\u5bb9<\/th><\/tr>\n<\/thead>\n<tbody>\n<tr><td>\u5c0f\u8133\u306e\u5f62\u6210<\/td><td>\u5c0f\u8133\u304c\u6b63\u3057\u3044\u5f62\u306b\u4f5c\u3089\u308c\u308b\u3088\u3046\u6307\u4ee4\u3092\u51fa\u3059<\/td><\/tr>\n<tr><td>\u795e\u7d4c\u7d30\u80de\u306e\u79fb\u52d5\u3068\u914d\u7f6e<\/td><td>\u5927\u8133\u76ae\u8cea\u306e\u795e\u7d4c\u7d30\u80de\u304c\u6b63\u3057\u3044\u5834\u6240\u306b\u79fb\u52d5\u3057\u3001\u6574\u5217\u3059\u308b\u3088\u3046\u8abf\u6574\u3059\u308b<\/td><\/tr>\n<tr><td>\u9aa8\u683c\u306e\u5f62\u6210<\/td><td>\u982d\u84cb\u9aa8\u3084\u80cc\u9aa8\u306e\u5f62\u6210\u306b\u95a2\u308f\u308b<\/td><\/tr>\n<\/tbody>\n<\/table>\n\n<h3><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>\u907a\u4f1d\u5b50\u306e\u5909\u5316\u306b\u3088\u308b\u5f71\u97ff<span class=\"ez-toc-section-end\"><\/span><\/h3>\n<p>ZIC1\u907a\u4f1d\u5b50\u306b\u5909\u7570\u304c\u8d77\u304d\u308b\u3068\u3001\u53f8\u4ee4\u5854\u3068\u3057\u3066\u306e\u6a5f\u80fd\u304c\u5931\u308f\u308c\u305f\u308a\u3001\u8aa4\u3063\u305f\u6307\u4ee4\u304c\u51fa\u305f\u308a\u3057\u307e\u3059\u3002\u3059\u308b\u3068\u5c0f\u8133\u304c\u5341\u5206\u306b\u80b2\u305f\u305a\u30c0\u30f3\u30c7\u30a3\u30fc\u30fb\u30a6\u30a9\u30fc\u30ab\u30fc\u5947\u5f62\u306b\u306a\u3063\u305f\u308a\u3001\u795e\u7d4c\u7d30\u80de\u304c\u9014\u4e2d\u3067\u8ff7\u5b50\u306b\u306a\u3063\u3066\u8133\u306e\u3057\u308f\u304c\u3046\u307e\u304f\u4f5c\u308c\u306a\u304b\u3063\u305f\u308a\u3057\u307e\u3059\u3002<\/p>\n<p>\u5bb6\u3092\u5efa\u3066\u308b\u3053\u3068\u306b\u4f8b\u3048\u308b\u306a\u3089\u3001\u8a2d\u8a08\u56f3\u306e\u91cd\u8981\u306a\u30da\u30fc\u30b8\u304c\u66f8\u304d\u63db\u308f\u308a\u3001\u67f1\u306e\u4f4d\u7f6e\u304c\u305a\u308c\u305f\u308a\u58c1\u304c\u4f5c\u3089\u308c\u306a\u304b\u3063\u305f\u308a\u3059\u308b\u3088\u3046\u306a\u72b6\u614b\u3067\u3059\u3002\u305d\u306e\u7d50\u679c\u3001\u8133\u306e\u69cb\u9020\u304c\u5909\u5316\u3057\u3001\u69d8\u3005\u306a\u75c7\u72b6\u304c\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002<\/p>\n<p>\u306a\u304a\u3001ZIC1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308b\u8133\u30fb\u9aa8\u683c\u3078\u306e\u5f71\u97ff\u306f\u4e00\u69d8\u3067\u306f\u306a\u304f\u3001\u5909\u7570\u306e\u4f4d\u7f6e\u3084\u7a2e\u985e\u306b\u3088\u3063\u3066\u73fe\u308c\u65b9\u306b\u5e45\u304c\u3042\u308b\u3053\u3068\u304c\u5206\u304b\u3063\u3066\u3044\u307e\u3059\u3002<a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=ZIC1\" target=\"_blank\" rel=\"noopener\">ZIC1\u907a\u4f1d\u5b50<\/a>\u306e\u5909\u5316\u306b\u306f\u3001\u8133\u306e\u69cb\u9020\u7570\u5e38\u304c\u4e2d\u5fc3\u3068\u306a\u308b\u30bf\u30a4\u30d7\uff08BAIDCS\uff09\u3001\u982d\u84cb\u9aa8\u306e\u7e2b\u5408\u7570\u5e38\u304c\u524d\u9762\u306b\u51fa\u308b\u30bf\u30a4\u30d7\uff08<a href=\"https:\/\/omim.org\/entry\/616602\" target=\"_blank\" rel=\"noopener\">Craniosynostosis 6\u30fbOMIM #616602<\/a>\uff09\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n<p>\u3055\u3089\u306b\u3001ZIC1\u30fbZIC4\u3068\u3044\u3046\u96a3\u63a5\u3059\u308b2\u3064\u306e\u907a\u4f1d\u5b50\u304c\u307e\u3068\u3081\u3066\u6b20\u5931\u3059\u308b\u3053\u3068\u3067\u751f\u3058\u308b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/dandy-walker-syndrome-guide\/\">\u30c0\u30f3\u30c7\u30a3\u30fc\u30fb\u30a6\u30a9\u30fc\u30ab\u30fc\u75c7\u5019\u7fa4<\/a>\u3082\u95a2\u9023\u75be\u60a3\u306e\u4e00\u3064\u3067\u3059\u3002\u540c\u3058\u907a\u4f1d\u5b50\u304c\u539f\u56e0\u3067\u3082\u3001\u5909\u7570\u306e\u8d77\u304d\u65b9\u306b\u3088\u3063\u3066\u75c7\u72b6\u306e\u4e2d\u5fc3\u304c\u5909\u308f\u308b\u70b9\u306f\u3001\u907a\u4f1d\u6027\u75be\u60a3\u3092\u7406\u89e3\u3059\u308b\u3046\u3048\u3067\u6b20\u304b\u305b\u306a\u3044\u8996\u70b9\u3067\u3057\u3087\u3046\u3002<\/p>\n\n<h3><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>\u907a\u4f1d\u306b\u3064\u3044\u3066<span class=\"ez-toc-section-end\"><\/span><\/h3>\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\u300c\u306a\u305c\u3046\u3061\u306e\u5b50\u3060\u3051\u3053\u306e\u3088\u3046\u306a\u75c5\u6c17\u306b\u306a\u3063\u305f\u306e\u304b\u300d\u3068\u6d99\u306a\u304c\u3089\u306b\u5c0b\u306d\u3089\u308c\u308b\u5834\u9762\u306b\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u73fe\u5834\u3067\u4f55\u5ea6\u3082\u5411\u304d\u5408\u3063\u3066\u304d\u307e\u3057\u305f\u3002<\/p>\n<p>\u3057\u304b\u3057CDCBM6\u306e\u307b\u3068\u3093\u3069\u306e\u30b1\u30fc\u30b9\u306f\u3001\u65b0\u751f\u7a81\u7136\u5909\u7570\uff08de novo\u5909\u7570\uff09\u306b\u3088\u308b\u3082\u306e\u3067\u3059\u3002\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\u7136ZIC1\u907a\u4f1d\u5b50\u306b\u5909\u5316\u304c\u8d77\u304d\u305f\u3053\u3068\u3092\u610f\u5473\u3057\u307e\u3059\u3002<\/p>\n<figure class=\"wp-block-image aligncenter\" style=\"margin:1.8em 0;\">\n<svg role=\"img\" aria-label=\"de novo\u5909\u7570\u306e\u4ed5\u7d44\u307f\u3092\u793a\u3059\u30d5\u30ed\u30fc\u56f3\u3002\u3054\u4e21\u89aa\u306b\u306f\u907a\u4f1d\u5b50\u306e\u5909\u5316\u304c\u306a\u304f\u3001\u7cbe\u5b50\u3084\u5375\u5b50\u304c\u4f5c\u3089\u308c\u308b\u904e\u7a0b\u307e\u305f\u306f\u53d7\u7cbe\u5f8c\u306e\u7d30\u80de\u5206\u88c2\u306e\u969b\u306b\u5076\u7136ZIC1\u907a\u4f1d\u5b50\u306b\u5909\u5316\u304c\u8d77\u304d\u3001\u304a\u5b50\u3055\u3093\u306b\u306e\u307f\u5909\u5316\u304c\u307f\u3089\u308c\u308b\u3053\u3068\u3092\u8868\u3059\u3002\" viewBox=\"0 0 640 200\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" style=\"width:100%;max-width:640px;height:auto;display:block;margin:0 auto;background:#fafcff;border-radius:12px;\">\n<style>\n  .dnv-box{fill:#eaf2ff;stroke:#5b9bd5;stroke-width:2.5;}\n  .dnv-box2{fill:#fff3d6;stroke:#e0a638;stroke-width:2.5;}\n  .dnv-box3{fill:#ffe3ee;stroke:#e8608a;stroke-width:2.5;}\n  .dnv-text{font-family:'Hiragino Sans','Noto Sans JP',sans-serif;font-size:14.5px;fill:#333;}\n  .dnv-sub{font-family:'Hiragino Sans','Noto Sans JP',sans-serif;font-size:11.5px;fill:#555;}\n  .dnv-arrow{stroke:#888;stroke-width:2.5;fill:none;marker-end:url(#dnvArrow);}\n<\/style>\n<defs>\n<marker id=\"dnvArrow\" markerWidth=\"10\" markerHeight=\"10\" refX=\"8\" refY=\"5\" orient=\"auto\">\n<path d=\"M0,0 L10,5 L0,10 Z\" fill=\"#888\"\/>\n<\/marker>\n<\/defs>\n<rect x=\"20\" y=\"55\" width=\"160\" height=\"90\" rx=\"14\" class=\"dnv-box\"\/>\n<text x=\"100\" y=\"90\" text-anchor=\"middle\" class=\"dnv-text\">\u3054\u4e21\u89aa<\/text>\n<text x=\"100\" y=\"110\" text-anchor=\"middle\" class=\"dnv-sub\">\u907a\u4f1d\u5b50\u306e\u5909\u5316\u306a\u3057<\/text>\n<path d=\"M185 100 L245 100\" class=\"dnv-arrow\"\/>\n<rect x=\"250\" y=\"45\" width=\"180\" height=\"110\" rx=\"14\" class=\"dnv-box2\"\/>\n<text x=\"340\" y=\"80\" text-anchor=\"middle\" class=\"dnv-sub\">\u7cbe\u5b50\u30fb\u5375\u5b50\u306e\u5f62\u6210\u904e\u7a0b<\/text>\n<text x=\"340\" y=\"100\" text-anchor=\"middle\" class=\"dnv-sub\">\u307e\u305f\u306f\u53d7\u7cbe\u5f8c\u306e<\/text>\n<text x=\"340\" y=\"120\" text-anchor=\"middle\" class=\"dnv-sub\">\u7d30\u80de\u5206\u88c2\u306e\u6bb5\u968e\u3067<\/text>\n<text x=\"340\" y=\"140\" text-anchor=\"middle\" class=\"dnv-text\">\u5076\u7136\u3001\u5909\u5316\u304c\u767a\u751f<\/text>\n<path d=\"M435 100 L495 100\" class=\"dnv-arrow\"\/>\n<rect x=\"500\" y=\"55\" width=\"130\" height=\"90\" rx=\"14\" class=\"dnv-box3\"\/>\n<text x=\"565\" y=\"90\" text-anchor=\"middle\" class=\"dnv-text\">\u304a\u5b50\u3055\u3093<\/text>\n<text x=\"565\" y=\"110\" text-anchor=\"middle\" class=\"dnv-sub\">ZIC1\u907a\u4f1d\u5b50\u306b\u306e\u307f<\/text>\n<text x=\"565\" y=\"127\" text-anchor=\"middle\" class=\"dnv-sub\">\u5909\u5316\u304c\u307f\u3089\u308c\u308b<\/text>\n<text x=\"320\" y=\"180\" text-anchor=\"middle\" class=\"dnv-sub\">\u203b \u3054\u4e21\u89aa\u306e\u884c\u52d5\u3084\u4f53\u8cea\u304c\u539f\u56e0\u3067\u306f\u3042\u308a\u307e\u305b\u3093\uff08de novo\u5909\u7570\uff09<\/text>\n<\/svg>\n<figcaption style=\"text-align:center;font-size:0.85em;color:#666;margin-top:0.5em;\">de novo\u5909\u7570\uff08\u65b0\u751f\u7a81\u7136\u5909\u7570\uff09\u306e\u4ed5\u7d44\u307f\uff08\u6a21\u5f0f\u56f3\uff09<\/figcaption>\n<\/figure>\n\n<p>\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\u598a\u5a20\u4e2d\u306e\u98df\u4e8b\u3001\u304a\u85ac\u3001\u30b9\u30c8\u30ec\u30b9\u3001\u74b0\u5883\u304c\u539f\u56e0\u3067\u8d77\u304d\u308b\u3082\u306e\u3067\u3082\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\u3067\u3059\u3002<\/p>\n<p>de novo\u5909\u7570\u304c\u539f\u56e0\u3067\u3042\u308b\u5834\u5408\u3001\u6b21\u306e\u3054\u598a\u5a20\u3067\u3053\u306e\u75c5\u6c17\u304c\u518d\u767a\u3059\u308b\u53ef\u80fd\u6027\u306f\u4e00\u822c\u7684\u306b\u4f4e\u3044\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u305f\u3060\u3057\u3001\u3054\u304f\u7a00\u306b\u7247\u65b9\u306e\u89aa\u306e\u751f\u6b96\u7d30\u80de\u306b\u5909\u7570\u304c\u9650\u5c40\u3059\u308b\u300c\u751f\u6b96\u7d30\u80de<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mosaicism\/\">\u30e2\u30b6\u30a4\u30af<\/a>\u300d\u3068\u3044\u3046\u30b1\u30fc\u30b9\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n<p>\u6b21\u306e\u3054\u598a\u5a20\u3092\u8003\u3048\u308b\u969b\u306b\u518d\u767a\u30ea\u30b9\u30af\u3092\u6b63\u78ba\u306b\u77e5\u308a\u305f\u3044\u5834\u5408\u306f\u3001\u81e8\u5e8a\u907a\u4f1d\u5c02\u9580\u533b\u306b\u3088\u308b\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u3001\u3054\u5bb6\u65cf\u306e\u72b6\u6cc1\u306b\u5fdc\u3058\u305f\u78ba\u7387\u3092\u78ba\u8a8d\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n<figure class=\"wp-block-image aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2026\/01\/3642548_s.webp\" alt=\"\u6bcd\u89aa\u306b\u62b1\u3063\u3053\u3055\u308c\u3066\u7720\u308b\u65b0\u751f\u5150\u306e\u8d64\u3061\u3083\u3093\" class=\"wp-image-123061\"\/><\/figure>\n\n<h2><span class=\"ez-toc-section\" id=\"%E8%A8%BA%E6%96%AD%E3%81%A8%E6%A4%9C%E6%9F%BB\"><\/span>\u8a3a\u65ad\u3068\u691c\u67fb<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p><strong>\u8a3a\u65ad\u306f\u3001\u75c7\u72b6\u306e\u89b3\u5bdf\u30fb\u753b\u50cf\u691c\u67fb\u30fb\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u3092\u7d44\u307f\u5408\u308f\u305b\u3066\u884c\u308f\u308c\u307e\u3059\u3002<\/strong>MRI\u306e\u6240\u898b\u3060\u3051\u3067\u78ba\u5b9a\u3055\u305b\u308b\u3053\u3068\u306f\u3067\u304d\u305a\u3001\u6700\u7d42\u7684\u306b\u306f\u907a\u4f1d\u5b50\u691c\u67fb\u304c\u5fc5\u8981\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n<h3><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<p>CDCBM6\u3092\u7591\u3046\u3046\u3048\u3067\u3001MRI\u691c\u67fb\u306f\u6700\u3082\u91cd\u8981\u306a\u624b\u304c\u304b\u308a\u3067\u3059\u3002\u8133\u306e\u65ad\u5c64\u5199\u771f\u304b\u3089\u3001\u6b21\u306e\u7279\u5fb4\u304c\u306a\u3044\u304b\u3092\u8a73\u3057\u304f\u8abf\u3079\u307e\u3059\u3002<\/p>\n<table>\n<thead>\n<tr><th>\u78ba\u8a8d\u9805\u76ee<\/th><th>\u30c1\u30a7\u30c3\u30af\u3059\u308b\u5185\u5bb9<\/th><\/tr>\n<\/thead>\n<tbody>\n<tr><td>\u5c0f\u8133\u306e\u5f62<\/td><td>\u30c0\u30f3\u30c7\u30a3\u30fc\u30fb\u30a6\u30a9\u30fc\u30ab\u30fc\u5947\u5f62\u3084\u5c0f\u8133\u866b\u90e8\u4f4e\u5f62\u6210\u306e\u6709\u7121<\/td><\/tr>\n<tr><td>\u8133\u6881\u306e\u6709\u7121\u3084\u5f62<\/td><td>\u6b20\u640d\u30fb\u4f4e\u5f62\u6210\u306e\u7a0b\u5ea6<\/td><\/tr>\n<tr><td>\u5927\u8133\u76ae\u8cea\u306e\u3057\u308f<\/td><td>\u539a\u8133\u56de\u30fb\u591a\u5c0f\u8133\u56de\u306a\u3069\u306e\u6709\u7121<\/td><\/tr>\n<tr><td>\u8133\u5ba4\u306e\u5927\u304d\u3055<\/td><td>\u62e1\u5927\u306e\u7a0b\u5ea6<\/td><\/tr>\n<\/tbody>\n<\/table>\n\n<h3><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<p>\u3066\u3093\u304b\u3093\u767a\u4f5c\u304c\u3042\u308b\u5834\u5408\u3084\u3001\u767a\u4f5c\u304c\u7591\u308f\u308c\u308b\u52d5\u4f5c\u304c\u307f\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\u3059\u308b\u3001\u767a\u4f5c\u306e\u30bf\u30a4\u30d7\u7279\u5b9a\u3068\u6cbb\u7642\u85ac\u6c7a\u5b9a\u306b\u6b20\u304b\u305b\u306a\u3044\u691c\u67fb\u3067\u3059\u3002<\/p>\n\n<h3><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<p>\u78ba\u5b9a\u8a3a\u65ad\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\u3067CDCBM6\u3068\u65ad\u5b9a\u3059\u308b\u3053\u3068\u306f\u3067\u304d\u307e\u305b\u3093\u3002<strong>TUBA1A\u30fbTUBB\u30fbTUBB2A\u306a\u3069\u4ed6\u306e\u907a\u4f1d\u5b50\u3067\u3082\u4f3c\u305f\u8133\u306e\u5f62\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308b<\/strong>\u305f\u3081\u3001\u907a\u4f1d\u5b50\u3054\u3068\u306e\u9055\u3044\u3092\u898b\u6975\u3081\u308b\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n<p>TUBA1A\u95a2\u9023\u306e\u75be\u60a3\u306b\u3064\u3044\u3066\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lissencephaly-type3-guide\/\">\u6ed1\u8133\u75c73\u578b\uff08LIS3\uff0fTUBA1A\u95a2\u9023\u6ed1\u8133\u75c7\uff09<\/a>\u3067\u3001TUBB2A\u95a2\u9023\u306e\u75be\u60a3\u306b\u3064\u3044\u3066\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cortical-dysplasia-complex-brain-malformations-5-tubb2a-guide\/\">\u8133\u76ae\u8cea\u7570\u5f62\u6210\u3068\u4ed6\u306e\u8133\u5947\u5f62\u3092\u4f34\u3046\u8907\u5408\u4f535\u578b\uff08CDCBM5\uff09<\/a>\u3067\u8a73\u3057\u304f\u89e3\u8aac\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n<p>\u8fd1\u5e74\u6025\u901f\u306b\u666e\u53ca\u3057\u3066\u304d\u305f\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b5\u30fc\u3092\u7528\u3044\u305f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/exome-sequencing-wes\/\">\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\uff08WES\uff09<\/a>\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\u3002ZIC1\u907a\u4f1d\u5b50\u306b\u5909\u7570\u304c\u3042\u308b\u3053\u3068\u304c\u78ba\u8a8d\u3055\u308c\u308c\u3070\u3001\u78ba\u5b9a\u8a3a\u65ad\u306b\u81f3\u308a\u307e\u3059\u3002<\/p>\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<h2><span class=\"ez-toc-section\" id=\"%E6%AC%A1%E3%81%AE%E3%81%94%E5%A6%8A%E5%A8%A0%E3%81%AB%E5%90%91%E3%81%91%E3%81%A6%E3%80%81%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\"><\/span>\u6b21\u306e\u3054\u598a\u5a20\u306b\u5411\u3051\u3066\u3001\u5bb6\u65cf\u304c\u4eca\u3067\u304d\u308b\u3053\u3068<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p><strong>\u4eca\u56de\u306e\u304a\u5b50\u3055\u3093\u306e\u8a3a\u65ad\u305d\u306e\u3082\u306e\u306fNIPT\u3067\u8abf\u3079\u3089\u308c\u308b\u5bfe\u8c61\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u6b21\u306e\u3054\u598a\u5a20\u306b\u5411\u3051\u305f\u4e0d\u5b89\u306b\u306f\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3068\u3044\u3046\u76f8\u8ac7\u5148\u304c\u3042\u308a\u307e\u3059\u3002<\/strong>de novo\u5909\u7570\u306b\u3088\u308b\u75be\u60a3\u3060\u3068\u5206\u304b\u3063\u3066\u3082\u3001\u3053\u308c\u304b\u3089\u5148\u3069\u3046\u5411\u304d\u5408\u3048\u3070\u3088\u3044\u306e\u304b\u5206\u304b\u3089\u305a\u3001\u7acb\u3061\u5c3d\u304f\u3057\u3066\u3057\u307e\u3046\u3054\u5bb6\u65cf\u306f\u5c11\u306a\u304f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n<p>\u307e\u305a\u62bc\u3055\u3048\u3066\u304a\u304d\u305f\u3044\u306e\u306f\u3001\u6b21\u306e3\u70b9\u3067\u3059\u3002<\/p>\n<table>\n<thead>\n<tr><th>\u72b6\u6cc1<\/th><th>\u8003\u3048\u65b9<\/th><\/tr>\n<\/thead>\n<tbody>\n<tr><td>\u518d\u767a\u30ea\u30b9\u30af\u3092\u5177\u4f53\u7684\u306b\u77e5\u308a\u305f\u3044<\/td><td>\u81e8\u5e8a\u907a\u4f1d\u5c02\u9580\u533b\u306b\u3088\u308b\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u3001\u3054\u5bb6\u65cf\u306e\u5909\u7570\u30bf\u30a4\u30d7\u306b\u5fdc\u3058\u305f\u78ba\u7387\u3092\u78ba\u8a8d\u3059\u308b<\/td><\/tr>\n<tr><td>\u6b21\u306e\u598a\u5a20\u3067\u67d3\u8272\u4f53\u306e\u6570\u7684\u7570\u5e38\u304c\u5fc3\u914d<\/td><td>21\u30fb18\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/patau-syndrome\/\">13\u30c8\u30ea\u30bd\u30df\u30fc<\/a>\u306a\u3069\u67d3\u8272\u4f53\u6570\u7684\u7570\u5e38\u306fNIPT\u3067\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u53ef\u80fd\uff08ZIC1\u306e\u5909\u7570\u81ea\u4f53\u306f\u5bfe\u8c61\u5916\uff09<\/td><\/tr>\n<tr><td>\u540c\u3058\u60a9\u307f\u3092\u62b1\u3048\u308b\u5bb6\u65cf\u3068\u3064\u306a\u304c\u308a\u305f\u3044<\/td><td>\u96e3\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc\u3084\u60a3\u8005\u4f1a\u306a\u3069\u306e\u76f8\u8ac7\u7a93\u53e3\u3092\u6d3b\u7528\u3059\u308b<\/td><\/tr>\n<\/tbody>\n<\/table>\n<p>\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30afNIPT\u3067\u306f\u3001\u5e74\u9f62\u5236\u9650\u3084\u7d39\u4ecb\u72b6\u306a\u3057\u3067NIPT\u3092\u53d7\u3051\u3089\u308c\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/obgyn\/\">\u7523\u5a66\u4eba\u79d1<\/a>\u5c02\u9580\u533b\u30fb\u5c0f\u5150\u79d1\u5c02\u9580\u533b\u30fb\u81e8\u5e8a\u907a\u4f1d\u5c02\u9580\u533b\u304c\u9023\u643a\u3057\u3066\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3092\u884c\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n<p>\u4eca\u56de\u306eZIC1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u305d\u306e\u3082\u306e\u3092\u6b21\u56de\u598a\u5a20\u6642\u306eNIPT\u3067\u691c\u51fa\u3059\u308b\u3053\u3068\u306f\u3067\u304d\u307e\u305b\u3093\u304c\u3001\u67d3\u8272\u4f53\u6570\u7684\u7570\u5e38\u3078\u306e\u4e0d\u5b89\u3084\u3001\u6b21\u306e\u4e00\u6b69\u3092\u3069\u3046\u8e0f\u307f\u51fa\u305b\u3070\u3088\u3044\u304b\u3068\u3044\u3046\u76f8\u8ac7\u306b\u306f\u5bfe\u5fdc\u3067\u304d\u307e\u3059\u3002\u4e00\u4eba\u3067\u62b1\u3048\u8fbc\u307e\u305a\u3001\u6c17\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308c\u3070\u304a\u554f\u3044\u5408\u308f\u305b\u304f\u3060\u3055\u3044\u3002<\/p>\n\n<div class=\"cta-box\" style=\"text-align: center; margin: 2em 0; padding: 1.2em; background: #fff5f7; border-radius: 12px;\">\n<p style=\"font-weight: bold; margin-bottom: 0.8em;\">\u25bc \u6b21\u306e\u3054\u598a\u5a20\u3084\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306b\u3064\u3044\u3066\u76f8\u8ac7\u3059\u308b<\/p>\n<p style=\"margin: 0.4em 0;\"><a style=\"display: inline-block; padding: 0.7em 1.6em; background: #e8608a; color: #fff; border-radius: 30px; text-decoration: none; font-weight: bold;\" href=\"https:\/\/mypage-nipt-reservation.hiro-clinic.or.jp\/registration\" target=\"_blank\" rel=\"noopener\">\ud83d\udd39 NIPT\u306e\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/a><\/p>\n<p style=\"margin: 0.4em 0;\"><a style=\"display: inline-block; padding: 0.7em 1.6em; background: #e8608a; color: #fff; border-radius: 30px; text-decoration: none; font-weight: bold;\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/line-registration\/\" target=\"_blank\" rel=\"noopener\">\ud83d\udcac LINE\u3067\u7121\u6599\u76f8\u8ac7\u3059\u308b<\/a><\/p>\n<p style=\"margin: 0.4em 0;\"><a style=\"display: inline-block; padding: 0.7em 1.6em; background: #e8608a; color: #fff; border-radius: 30px; text-decoration: none; font-weight: bold;\" href=\"tel:0120169629\">\ud83d\udcde \u96fb\u8a71\u3067\u76f8\u8ac7\u3059\u308b\uff080120-169-629\uff09<\/a><\/p>\n<\/div>\n\n<h2><span class=\"ez-toc-section\" id=\"%E6%B2%BB%E7%99%82%E3%81%A8%E7%AE%A1%E7%90%86\"><\/span>\u6cbb\u7642\u3068\u7ba1\u7406<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p><strong>\u907a\u4f1d\u5b50\u306e\u5909\u5316\u305d\u306e\u3082\u306e\u3092\u4fee\u5fa9\u3057\u8133\u306e\u5f62\u3092\u5143\u306b\u623b\u3059\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u3001\u73fe\u6642\u70b9\u3067\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002<\/strong>\u305f\u3060\u3057\u3001\u305d\u308c\u305e\u308c\u306e\u75c7\u72b6\u3078\u306e\u5bfe\u75c7\u7642\u6cd5\u3068\u30b5\u30dd\u30fc\u30c8\uff08\u7642\u80b2\uff09\u306b\u3088\u308a\u3001\u304a\u5b50\u3055\u3093\u306e\u82e6\u75db\u3092\u548c\u3089\u3052\u3001\u751f\u6d3b\u306e\u8cea\uff08QOL\uff09\u3092\u9ad8\u3081\u308b\u3053\u3068\u306f\u5341\u5206\u306b\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n<h3><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<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\u3046\u3048\u3067\u3082\u6b20\u304b\u305b\u307e\u305b\u3093\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\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\u306a\u3069\u69d8\u3005\u306a\u85ac\u304c\u8a66\u3055\u308c\u307e\u3059\u3002<\/p>\n<p>\u4e00\u3064\u306e\u85ac\u3067\u6b62\u307e\u3089\u306a\u3044\u5834\u5408\u306f\u8907\u6570\u3092\u7d44\u307f\u5408\u308f\u305b\u3001\u96e3\u6cbb\u6027\u306e\u5834\u5408\u306f\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<h3><span class=\"ez-toc-section\" id=\"2_%E6%B0%B4%E9%A0%AD%E7%97%87%E3%81%AE%E6%B2%BB%E7%99%82\"><\/span>2. \u6c34\u982d\u75c7\u306e\u6cbb\u7642<span class=\"ez-toc-section-end\"><\/span><\/h3>\n<p>\u30c0\u30f3\u30c7\u30a3\u30fc\u30fb\u30a6\u30a9\u30fc\u30ab\u30fc\u5947\u5f62\u306b\u4f34\u3063\u3066\u6c34\u982d\u75c7\uff08\u8133\u5ba4\u306b\u6c34\u304c\u305f\u307e\u308a\u3059\u304e\u3066\u8133\u3092\u5727\u8feb\u3059\u308b\u72b6\u614b\uff09\u304c\u9032\u884c\u3057\u305f\u5834\u5408\u306f\u3001\u8133\u795e\u7d4c\u5916\u79d1\u7684\u306a\u624b\u8853\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u4f59\u5206\u306a\u8133\u810a\u9ac4\u6db2\u3092\u304a\u8179\u306e\u4e2d\u306b\u6d41\u3059\u30b7\u30e3\u30f3\u30c8\u624b\u8853\u306a\u3069\u306b\u3088\u308a\u3001\u8133\u3078\u306e\u5727\u8feb\u304c\u548c\u3089\u304e\u3001\u982d\u75db\u3084\u5410\u304d\u6c17\u306a\u3069\u306e\u75c7\u72b6\u6539\u5584\u306b\u3064\u306a\u304c\u308a\u307e\u3059\u3002<\/p>\n\n<h3><span class=\"ez-toc-section\" id=\"3_%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>3. \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<p>\u65e9\u671f\u304b\u3089\u306e\u7642\u80b2\u306f\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<\/p>\n<ul>\n<li>\u7406\u5b66\u7642\u6cd5\uff08PT\uff09\uff1a\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3084\u75d9\u7e2e\u3078\u306e\u30a2\u30d7\u30ed\u30fc\u30c1\u3001\u9996\u3059\u308f\u308a\u30fb\u304a\u5ea7\u308a\u306e\u7df4\u7fd2\u3001\u95a2\u7bc0\u304c\u786c\u304f\u306a\u3089\u306a\u3044\u30de\u30c3\u30b5\u30fc\u30b8\u3084\u30b9\u30c8\u30ec\u30c3\u30c1\u3092\u884c\u3044\u307e\u3059\u3002\u5ea7\u4f4d\u4fdd\u6301\u88c5\u7f6e\u3084\u8eca\u6905\u5b50\u306a\u3069\u798f\u7949\u7528\u5177\u306e\u9078\u5b9a\u3067\u3082\u5c02\u9580\u7684\u306a\u52a9\u8a00\u304c\u53d7\u3051\u3089\u308c\u307e\u3059\u3002<\/li>\n<li>\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09\uff1a\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\u3073\u307e\u3059\u3002<\/li>\n<li>\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09\uff1a\u8a00\u8449\u306e\u7406\u89e3\u3084\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u65b9\u6cd5\u3092\u63a2\u308a\u307e\u3059\u3002\u7d75\u30ab\u30fc\u30c9\u3084\u30b9\u30a4\u30c3\u30c1\u3001\u8996\u7dda\u5165\u529b\u88c5\u7f6e\u3067\u610f\u601d\u758e\u901a\u304c\u3067\u304d\u308b\u3088\u3046\u306b\u306a\u308b\u4f8b\u3082\u3042\u308a\u3001\u6442\u98df\u56a5\u4e0b\u306e\u8a13\u7df4\u3082\u3042\u308f\u305b\u3066\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<p>3\u3064\u306e\u7642\u6cd5\u306f\u5f79\u5272\u304c\u7570\u306a\u308b\u304b\u3089\u3053\u305d\u3001\u7d44\u307f\u5408\u308f\u305b\u308b\u3053\u3068\u3067\u304a\u5b50\u3055\u3093\u306e\u300c\u3067\u304d\u308b\u3053\u3068\u300d\u3092\u5e83\u3052\u3084\u3059\u304f\u306a\u308a\u307e\u3059\u3002<\/p>\n\n<h3><span class=\"ez-toc-section\" id=\"4_%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>4. \u6804\u990a\u3068\u547c\u5438\u306e\u7ba1\u7406<span class=\"ez-toc-section-end\"><\/span><\/h3>\n<p>\u98f2\u307f\u8fbc\u3080\u529b\u304c\u5f31\u304f\u53e3\u304b\u3089\u5341\u5206\u306b\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\u3067\u3001\u5341\u5206\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\u30b9\u30c8\u30ec\u30b9\u8efd\u6e1b\u306b\u3082\u5f79\u7acb\u3064\u624b\u6bb5\u3067\u3059\u3002<\/p>\n<p>\u7b4b\u7dca\u5f35\u304c\u5f31\u3044\u3068\u547c\u5438\u306e\u529b\u3082\u5f31\u304f\u306a\u308a\u304c\u3061\u3067\u3059\u3002\u98a8\u90aa\u3092\u3072\u3044\u305f\u3068\u304d\u306b\u75f0\u304c\u51fa\u3057\u306b\u304f\u3044\u3001\u7761\u7720\u4e2d\u306b\u547c\u5438\u304c\u6d45\u304f\u306a\u308b\u3068\u3044\u3063\u305f\u72b6\u614b\u304c\u307f\u3089\u308c\u308b\u5834\u5408\u3001\u5438\u5f15\u5668\u306e\u4f7f\u7528\u3084\u5728\u5b85\u9178\u7d20\u7642\u6cd5\u3067\u5bfe\u5fdc\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h2><span class=\"ez-toc-section\" id=\"%E3%82%88%E3%81%8F%E3%81%82%E3%82%8B%E8%B3%AA%E5%95%8F\"><\/span>\u3088\u304f\u3042\u308b\u8cea\u554f<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p><strong>CDCBM6\u30fbZIC1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3064\u3044\u3066\u3001\u3054\u5bb6\u65cf\u304b\u3089\u5bc4\u305b\u3089\u308c\u308b\u3053\u3068\u306e\u591a\u3044\u8cea\u554f\u306b\u304a\u7b54\u3048\u3057\u307e\u3059\u3002<\/strong><\/p>\n<p><strong>Q1. CDCBM6\u306f\u6cbb\u308a\u307e\u3059\u304b\uff1f<\/strong><br>\n\u907a\u4f1d\u5b50\u306e\u5909\u5316\u305d\u306e\u3082\u306e\u3092\u4fee\u5fa9\u3059\u308b\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u3001\u73fe\u6642\u70b9\u3067\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002\u305f\u3060\u3057\u3001\u3066\u3093\u304b\u3093\u3084\u6c34\u982d\u75c7\u3078\u306e\u5bfe\u75c7\u7642\u6cd5\u3001\u7642\u80b2\u306b\u3088\u3063\u3066\u3001\u751f\u6d3b\u306e\u8cea\u3092\u9ad8\u3081\u308b\u3053\u3068\u306f\u53ef\u80fd\u3067\u3059\u3002<\/p>\n<p><strong>Q2. \u6b21\u306e\u5b50\u3069\u3082\u306b\u3082\u540c\u3058\u75c5\u6c17\u304c\u8d77\u3053\u308a\u307e\u3059\u304b\uff1f<\/strong><br>\n\u307b\u3068\u3093\u3069\u306e\u30b1\u30fc\u30b9\u306fde novo\u5909\u7570\uff08\u65b0\u751f\u7a81\u7136\u5909\u7570\uff09\u306b\u3088\u308b\u3082\u306e\u3067\u3001\u518d\u767a\u306e\u53ef\u80fd\u6027\u306f\u4e00\u822c\u7684\u306b\u4f4e\u3044\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u6b63\u78ba\u306a\u78ba\u7387\u306f\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<p><strong>Q3. CDCBM6\u3068CDCBM5\u306f\u3069\u3046\u9055\u3044\u307e\u3059\u304b\uff1f<\/strong><br>\n\u3069\u3061\u3089\u3082\u8907\u6570\u306e\u8133\u5947\u5f62\u3092\u4f34\u3046\u75c7\u5019\u7fa4\u3067\u3059\u304c\u3001\u539f\u56e0\u907a\u4f1d\u5b50\u304c\u7570\u306a\u308a\u307e\u3059\u3002CDCBM6\u306fZIC1\u907a\u4f1d\u5b50\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cortical-dysplasia-complex-brain-malformations-5-tubb2a-guide\/\">CDCBM5<\/a>\u306fTUBB2A\u907a\u4f1d\u5b50\u306e\u5909\u7570\u304c\u539f\u56e0\u3067\u3059\u3002<\/p>\n<p><strong>Q4. \u598a\u5a20\u4e2d\u306e\u79c1\u306e\u884c\u52d5\u304c\u539f\u56e0\u3067\u306f\u306a\u3044\u304b\u3068\u4e0d\u5b89\u3067\u3059\u3002<\/strong><br>\n\u598a\u5a20\u4e2d\u306e\u98df\u4e8b\u3001\u85ac\u3001\u30b9\u30c8\u30ec\u30b9\u3001\u751f\u6d3b\u74b0\u5883\u304c\u539f\u56e0\u306b\u306a\u308b\u3053\u3068\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u307b\u3068\u3093\u3069\u304c\u53d7\u7cbe\u524d\u5f8c\u306e\u5076\u7136\u306e\u5909\u5316\u306b\u3088\u308b\u3082\u306e\u3067\u3001\u3054\u81ea\u8eab\u3092\u8cac\u3081\u308b\u5fc5\u8981\u306f\u307e\u3063\u305f\u304f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n<p><strong>Q5. MRI\u3067\u4f3c\u305f\u6240\u898b\u304c\u898b\u3064\u304b\u308a\u307e\u3057\u305f\u304c\u3001\u907a\u4f1d\u5b50\u691c\u67fb\u306f\u5fc5\u9808\u3067\u3059\u304b\uff1f<\/strong><br>\n\u5fc5\u9808\u3067\u3059\u3002TUBA1A\u3084TUBB\u306a\u3069\u4ed6\u306e\u907a\u4f1d\u5b50\u3067\u3082\u4f3c\u305f\u8133\u306e\u5f62\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308b\u305f\u3081\u3001\u78ba\u5b9a\u8a3a\u65ad\u3068\u4eca\u5f8c\u306e\u898b\u901a\u3057\u306e\u5224\u65ad\u306b\u306f\u907a\u4f1d\u5b50\u691c\u67fb\u304c\u6b20\u304b\u305b\u307e\u305b\u3093\u3002<\/p>\n<p><strong>Q6. \u3069\u306e\u8a3a\u7642\u79d1\u306b\u76f8\u8ac7\u3059\u308c\u3070\u3088\u3044\u3067\u3059\u304b\uff1f<\/strong><br>\n\u5c0f\u5150\u795e\u7d4c\u79d1\u3092\u8ef8\u306b\u3001\u8133\u795e\u7d4c\u5916\u79d1\u30fb\u907a\u4f1d\u8a3a\u7642\u79d1\u3068\u9023\u643a\u3059\u308b\u4f53\u5236\u304c\u4e00\u822c\u7684\u3067\u3059\u3002\u6b21\u306e\u3054\u598a\u5a20\u306b\u3064\u3044\u3066\u306e\u76f8\u8ac7\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/obgyn\/\">\u7523\u5a66\u4eba\u79d1<\/a>\u3084\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u5916\u6765\u304c\u7a93\u53e3\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n<div class=\"cta-box\" style=\"text-align: center; margin: 2em 0; padding: 1.2em; background: #fff5f7; border-radius: 12px;\">\n<p style=\"font-weight: bold; margin-bottom: 0.8em;\">\u25bc \u598a\u5a20\u30fb\u51fa\u751f\u524d\u691c\u67fb\u306b\u3064\u3044\u3066\u76f8\u8ac7\u3059\u308b<\/p>\n<p style=\"margin: 0.4em 0;\"><a style=\"display: inline-block; padding: 0.7em 1.6em; background: #e8608a; color: #fff; border-radius: 30px; text-decoration: none; font-weight: bold;\" href=\"https:\/\/mypage-nipt-reservation.hiro-clinic.or.jp\/registration\" target=\"_blank\" rel=\"noopener\">\ud83d\udd39 NIPT\u306e\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/a><\/p>\n<p style=\"margin: 0.4em 0;\"><a style=\"display: inline-block; padding: 0.7em 1.6em; background: #e8608a; color: #fff; border-radius: 30px; text-decoration: none; font-weight: bold;\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/line-registration\/\" target=\"_blank\" rel=\"noopener\">\ud83d\udcac LINE\u3067\u7121\u6599\u76f8\u8ac7\u3059\u308b<\/a><\/p>\n<\/div>\n\n<h2><span class=\"ez-toc-section\" id=\"%E3%81%BE%E3%81%A8%E3%82%81\"><\/span>\u307e\u3068\u3081<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p><strong>\u8133\u76ae\u8cea\u7570\u5f62\u6210\u3068\u4ed6\u306e\u8133\u5947\u5f62\u3092\u4f34\u3046\u8907\u5408\u4f536\u578b\uff08CDCBM6\uff09\u306f\u3001ZIC1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308a\u5927\u8133\u30fb\u5c0f\u8133\u306e\u69cb\u9020\u306b\u5909\u5316\u304c\u751f\u3058\u308b\u5148\u5929\u6027\u306e\u75be\u60a3\u3067\u3059\u3002<\/strong>\u91cd\u8981\u306a\u30dd\u30a4\u30f3\u30c8\u3092\u632f\u308a\u8fd4\u308a\u307e\u3059\u3002<\/p>\n<ul>\n<li>\u75c5\u6c17\u306e\u672c\u8cea\uff1aZIC1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308a\u3001\u8133\u306e\u5f62\u6210\u6bb5\u968e\u3067\u8abf\u6574\u304c\u3046\u307e\u304f\u3044\u304b\u305a\u3001\u5927\u8133\u3084\u5c0f\u8133\u306e\u69cb\u9020\u306b\u5909\u5316\u304c\u751f\u3058\u308b\u75be\u60a3\u3002<\/li>\n<li>\u4e3b\u306a\u7279\u5fb4\uff1a\u30c0\u30f3\u30c7\u30a3\u30fc\u30fb\u30a6\u30a9\u30fc\u30ab\u30fc\u5947\u5f62\u3001\u8133\u6881\u6b20\u640d\u3001\u5927\u8133\u76ae\u8cea\u306e\u5f62\u6210\u7570\u5e38\u306a\u3069\u306e\u753b\u50cf\u6240\u898b\u3068\u3001\u91cd\u5ea6\u306e\u767a\u9054\u9045\u6ede\u30fb\u3066\u3093\u304b\u3093\u30fb\u7b4b\u7dca\u5f35\u7570\u5e38\u3002<\/li>\n<li>\u6cbb\u7642\u306e\u65b9\u91dd\uff1a\u3066\u3093\u304b\u3093\u767a\u4f5c\u306e\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3001\u6c34\u982d\u75c7\u3078\u306e\u5bfe\u5fdc\u3001\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u306b\u3088\u308b\u767a\u9054\u652f\u63f4\u304c\u4e2d\u5fc3\u3002<\/li>\n<li>\u539f\u56e0\uff1a\u591a\u304f\u306f\u7a81\u7136\u5909\u7570\u306b\u3088\u308b\u3082\u306e\u3067\u3001\u89aa\u306e\u305b\u3044\u3067\u306f\u306a\u3044\u3002<\/li>\n<\/ul>\n<p>\u533b\u7642\u7684\u306a\u30b1\u30a2\u3060\u3051\u3067\u306a\u304f\u3001\u304a\u5b50\u3055\u3093\u306e\u300c\u3067\u304d\u308b\u3053\u3068\u300d\u3084\u300c\u597d\u304d\u306a\u3053\u3068\u300d\u306b\u76ee\u3092\u5411\u3051\u3001\u5fc3\u5730\u3088\u3044\u751f\u6d3b\u74b0\u5883\u3092\u6574\u3048\u308b\u3053\u3068\u304c\u3001\u5bb6\u65cf\u306b\u3068\u3063\u3066\u306e\u6b21\u306e\u4e00\u6b69\u306b\u306a\u308b\u306f\u305a\u3067\u3059\u3002\u6b21\u306e\u3054\u598a\u5a20\u306b\u95a2\u3059\u308b\u4e0d\u5b89\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosomal-abnormality\/\">\u67d3\u8272\u4f53\u7570\u5e38<\/a>\u306e\u5fc3\u914d\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u4e00\u4eba\u3067\u62b1\u3048\u8fbc\u307e\u305a\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u7a93\u53e3\u3092\u983c\u3063\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\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<hr \/>\n<p><strong>\u76e3\u4fee\u8005<\/strong><br>\n\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\u30fb\u30e9\u30dc\u30c7\u30a3\u30ec\u30af\u30bf\u30fc<br>\n\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\u81e8\u5e8a\u7814\u4fee\u5f8c2\u5e74\u3067\u533b\u5b66\u535a\u58eb\u3092\u53d6\u5f97\u3002\u56fd\u5185\u306b\u7d0420\u4eba\u3068\u3055\u308c\u308b\u30e9\u30dc\u30c7\u30a3\u30ec\u30af\u30bf\u30fc\u8cc7\u683c\u3092\u4fdd\u6709\u3057\u3066\u3044\u307e\u3059\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/obgyn\/\">\u7523\u5a66\u4eba\u79d1<\/a>\u30fb\u5c0f\u5150\u79d1\u30fb\u81e8\u5e8a\u907a\u4f1d\u306e\u5c02\u9580\u533b\u3068\u9023\u643a\u3057\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3092\u884c\u3046\u3002\u8457\u66f8\u300e\u598a\u5a20\u3057\u305f\u3089\u6700\u521d\u306b\u8aad\u3093\u3067\u6b32\u3057\u3044\u672c\u300f\u3002<\/p>\n\n<p style=\"font-size: 0.85em; color: #666;\">\u53c2\u8003\u6587\u732e\uff1a<a href=\"https:\/\/omim.org\/entry\/618736\" target=\"_blank\" rel=\"noopener\">OMIM #618736 Structural Brain Anomalies with Impaired Intellectual Development and Craniosynostosis<\/a>\uff0f<a href=\"https:\/\/omim.org\/entry\/615771\" target=\"_blank\" rel=\"noopener\">OMIM #615771 Cortical Dysplasia, Complex, with Other Brain Malformations 6<\/a>\uff0f<a href=\"https:\/\/www.genecards.org\/cgi-bin\/carddisp.pl?gene=ZIC1\" target=\"_blank\" rel=\"noopener\">GeneCards: ZIC1 Gene<\/a>\uff0f<a href=\"https:\/\/www.shouman.jp\/disease\/details\/11_04_010\/\" target=\"_blank\" rel=\"noopener\">\u5c0f\u5150\u6162\u6027\u7279\u5b9a\u75be\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc\uff1a\u30c0\u30f3\u30c7\u30a3\u30fc\u30fb\u30a6\u30a9\u30fc\u30ab\u30fc\u75c7\u5019\u7fa4<\/a>\uff0f<a href=\"https:\/\/www.gimjournal.org\/article\/S1098-3600(26)00903-2\/fulltext\" target=\"_blank\" rel=\"noopener\">Genetics in Medicine: Expanding the phenotypic spectrum associated with ZIC1 variants<\/a><\/p>\n\n<script type=\"application\/ld+json\">\n{\n  \"@context\": \"https:\/\/schema.org\",\n  \"@type\": \"FAQPage\",\n  \"mainEntity\": [\n    {\n      \"@type\": \"Question\",\n      \"name\": \"CDCBM6\u306f\u6cbb\u308a\u307e\u3059\u304b\uff1f\",\n      \"acceptedAnswer\": {\n        \"@type\": \"Answer\",\n        \"text\": 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novo\u5909\u7570\uff08\u65b0\u751f\u7a81\u7136\u5909\u7570\uff09\u306b\u3088\u308b\u3082\u306e\u3067\u3001\u518d\u767a\u306e\u53ef\u80fd\u6027\u306f\u4e00\u822c\u7684\u306b\u4f4e\u3044\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u6b63\u78ba\u306a\u78ba\u7387\u306f\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\"\n      }\n    },\n    {\n      \"@type\": \"Question\",\n      \"name\": \"CDCBM6\u3068CDCBM5\u306f\u3069\u3046\u9055\u3044\u307e\u3059\u304b\uff1f\",\n      \"acceptedAnswer\": {\n        \"@type\": \"Answer\",\n        \"text\": \"\u3069\u3061\u3089\u3082\u8907\u6570\u306e\u8133\u5947\u5f62\u3092\u4f34\u3046\u75c7\u5019\u7fa4\u3067\u3059\u304c\u3001\u539f\u56e0\u907a\u4f1d\u5b50\u304c\u7570\u306a\u308a\u307e\u3059\u3002CDCBM6\u306fZIC1\u907a\u4f1d\u5b50\u3001CDCBM5\u306fTUBB2A\u907a\u4f1d\u5b50\u306e\u5909\u7570\u304c\u539f\u56e0\u3067\u3059\u3002\"\n      }\n    },\n    {\n      \"@type\": \"Question\",\n      \"name\": \"\u598a\u5a20\u4e2d\u306e\u79c1\u306e\u884c\u52d5\u304c\u539f\u56e0\u3067\u306f\u306a\u3044\u304b\u3068\u4e0d\u5b89\u3067\u3059\u3002\",\n      \"acceptedAnswer\": {\n        \"@type\": \"Answer\",\n        \"text\": 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