{"id":123316,"date":"2026-01-16T12:50:34","date_gmt":"2026-01-16T03:50:34","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=123316"},"modified":"2026-07-27T05:42:42","modified_gmt":"2026-07-26T20:42:42","slug":"developmental-epileptic-encephalopathy-54-hnrnpu-guide","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-54-hnrnpu-guide\/","title":{"rendered":"\u767a\u9054\u6027\u304a\u3088\u3073\u3066\u3093\u304b\u3093\u6027\u8133\u75c754\u578b\uff08Developmental and epileptic encephalopathy 54\uff09"},"content":{"rendered":"\n<div style=\"border:solid #ffe6e6 0.8rem;background-color: #fff9f9;padding:3% 5%;margin:1rem 0 3rem;\">\n<h2 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\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-24\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-54-hnrnpu-guide\/#2_%E8%84%B3%E6%B3%A2%E6%A4%9C%E6%9F%BB\" >2. \u8133\u6ce2\u691c\u67fb<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-25\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-54-hnrnpu-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-26\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-54-hnrnpu-guide\/#6_%E6%B2%BB%E7%99%82%E3%81%A8%E7%AE%A1%E7%90%86\" >6. \u6cbb\u7642\u3068\u7ba1\u7406<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-27\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-54-hnrnpu-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-28\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-54-hnrnpu-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><ul class='ez-toc-list-level-4' ><li class='ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-29\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-54-hnrnpu-guide\/#%E7%90%86%E5%AD%A6%E7%99%82%E6%B3%95%EF%BC%88PT%EF%BC%89\" >\u7406\u5b66\u7642\u6cd5\uff08PT\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-30\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-54-hnrnpu-guide\/#%E4%BD%9C%E6%A5%AD%E7%99%82%E6%B3%95%EF%BC%88OT%EF%BC%89%E3%83%BB%E8%A8%80%E8%AA%9E%E8%81%B4%E8%A6%9A%E7%99%82%E6%B3%95%EF%BC%88ST%EF%BC%89\" >\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09\u30fb\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-31\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-54-hnrnpu-guide\/#3_%E6%A0%84%E9%A4%8A%E3%81%A8%E7%94%9F%E6%B4%BB%E9%9D%A2%E3%81%AE%E7%AE%A1%E7%90%86\" >3. \u6804\u990a\u3068\u751f\u6d3b\u9762\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-32\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-54-hnrnpu-guide\/#7_%E7%99%BA%E9%81%94%E6%94%AF%E6%8F%B4%E3%81%A8%E3%81%94%E5%AE%B6%E6%97%8F%E3%81%B8%E3%81%AE%E3%82%B5%E3%83%9D%E3%83%BC%E3%83%88\" >7. \u767a\u9054\u652f\u63f4\u3068\u3054\u5bb6\u65cf\u3078\u306e\u30b5\u30dd\u30fc\u30c8<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-33\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-54-hnrnpu-guide\/#8_%E3%81%BE%E3%81%A8%E3%82%81\" >8. \u307e\u3068\u3081<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-34\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-54-hnrnpu-guide\/#%E7%97%85%E6%B0%97%E3%81%AE%E6%9C%AC%E8%B3%AA\" >\u75c5\u6c17\u306e\u672c\u8cea<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-35\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-54-hnrnpu-guide\/#%E4%B8%BB%E3%81%AA%E7%89%B9%E5%BE%B4\" >\u4e3b\u306a\u7279\u5fb4<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-36\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-54-hnrnpu-guide\/#%E3%81%A6%E3%82%93%E3%81%8B%E3%82%93%E3%81%A8%E5%8E%9F%E5%9B%A0%E9%81%BA%E4%BC%9D%E5%AD%90\" >\u3066\u3093\u304b\u3093\u3068\u539f\u56e0\u907a\u4f1d\u5b50<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-37\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-54-hnrnpu-guide\/#%E5%8E%9F%E5%9B%A0%E3%81%A8NIPT%E3%81%A8%E3%81%AE%E9%96%A2%E4%BF%82\" >\u539f\u56e0\u3068NIPT\u3068\u306e\u95a2\u4fc2<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-38\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-54-hnrnpu-guide\/#%E3%82%B1%E3%82%A2%E3%81%AE%E8%A6%81%E7%82%B9\" >\u30b1\u30a2\u306e\u8981\u70b9<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-39\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-54-hnrnpu-guide\/#%E3%82%88%E3%81%8F%E3%81%82%E3%82%8B%E8%B3%AA%E5%95%8F\" >\u3088\u304f\u3042\u308b\u8cea\u554f<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-40\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-54-hnrnpu-guide\/#DEE54%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%A7%E3%81%99%E3%81%8B%E3%80%82\" >DEE54\u3068\u306f\u3069\u306e\u3088\u3046\u306a\u75c5\u6c17\u3067\u3059\u304b\u3002<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-41\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-54-hnrnpu-guide\/#%E3%81%A9%E3%81%AE%E3%81%8F%E3%82%89%E3%81%84%E3%81%AE%E9%A0%BB%E5%BA%A6%E3%81%A7%E8%A6%8B%E3%82%89%E3%82%8C%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >\u3069\u306e\u304f\u3089\u3044\u306e\u983b\u5ea6\u3067\u898b\u3089\u308c\u307e\u3059\u304b\u3002<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-42\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-54-hnrnpu-guide\/#%E3%81%A6%E3%82%93%E3%81%8B%E3%82%93%E7%99%BA%E4%BD%9C%E3%81%AB%E3%81%AF%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E6%B2%BB%E7%99%82%E3%81%8C%E3%81%82%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >\u3066\u3093\u304b\u3093\u767a\u4f5c\u306b\u306f\u3069\u306e\u3088\u3046\u306a\u6cbb\u7642\u304c\u3042\u308a\u307e\u3059\u304b\u3002<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-43\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-54-hnrnpu-guide\/#%E8%84%B3%E6%A2%81%E3%81%AE%E7%95%B0%E5%B8%B8%E3%81%AF%E5%BF%85%E3%81%9A%E8%A6%8B%E3%82%89%E3%82%8C%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >\u8133\u6881\u306e\u7570\u5e38\u306f\u5fc5\u305a\u898b\u3089\u308c\u307e\u3059\u304b\u3002<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-44\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-54-hnrnpu-guide\/#%E8%A6%AA%E3%81%8B%E3%82%89%E9%81%BA%E4%BC%9D%E3%81%97%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82%E6%AC%A1%E3%81%AE%E5%AD%90%E3%81%A9%E3%82%82%E3%81%AB%E3%82%82%E5%BD%B1%E9%9F%BF%E3%81%97%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >\u89aa\u304b\u3089\u907a\u4f1d\u3057\u307e\u3059\u304b\u3002\u6b21\u306e\u5b50\u3069\u3082\u306b\u3082\u5f71\u97ff\u3057\u307e\u3059\u304b\u3002<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-45\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-54-hnrnpu-guide\/#%E5%A6%8A%E5%A8%A0%E4%B8%AD%E3%81%AENIPT%E3%81%A7%E3%81%93%E3%81%AE%E7%97%85%E6%B0%97%E3%81%AF%E3%82%8F%E3%81%8B%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >\u598a\u5a20\u4e2d\u306eNIPT\u3067\u3053\u306e\u75c5\u6c17\u306f\u308f\u304b\u308a\u307e\u3059\u304b\u3002<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-46\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-54-hnrnpu-guide\/#%E4%BB%96%E3%81%AE%E7%99%BA%E9%81%94%E6%80%A7%E3%81%8A%E3%82%88%E3%81%B3%E3%81%A6%E3%82%93%E3%81%8B%E3%82%93%E6%80%A7%E8%84%B3%E7%97%87%E3%81%A8%E3%81%AF%E3%81%A9%E3%81%86%E9%81%95%E3%81%84%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >\u4ed6\u306e\u767a\u9054\u6027\u304a\u3088\u3073\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\u3068\u306f\u3069\u3046\u9055\u3044\u307e\u3059\u304b\u3002<\/a><\/li><\/ul><\/li><\/ul><\/nav><\/div>\n<h2 style=\"margin-top:1rem;\"><span class=\"ez-toc-section\" id=\"%E3%81%93%E3%81%AE%E8%A8%98%E4%BA%8B%E3%81%A7%E3%82%8F%E3%81%8B%E3%82%8B%E3%81%93%E3%81%A8\"><\/span>\u3053\u306e\u8a18\u4e8b\u3067\u308f\u304b\u308b\u3053\u3068<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<ul>\n<li>DEE54\uff08HNRNPU\u95a2\u9023\u795e\u7d4c\u767a\u9054\u75c7\uff09\u306e\u9577\u3044\u8a3a\u65ad\u540d\u306e\u610f\u5473\u3068\u5168\u4f53\u50cf<\/li>\n<li>\u3066\u3093\u304b\u3093\u767a\u4f5c\u30fb\u767a\u9054\u306e\u9045\u308c\u30fb\u8eab\u4f53\u7684\u7279\u5fb4\u306a\u3069\u3001\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u75c7\u72b6\u3068\u983b\u5ea6<\/li>\n<li>HNRNPU\u907a\u4f1d\u5b50\u306e\u50cd\u304d\u3068\u3001\u907a\u4f1d\u306e\u4ed5\u7d44\u307f\uff08\u5e38\u67d3\u8272\u4f53\u9855\u6027\u30fb\u65b0\u751f\u7a81\u7136\u5909\u7570\uff09<\/li>\n<li>\u598a\u5a20\u4e2d\u306eNIPT\uff08\u65b0\u578b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\uff09\u3067DEE54\u304c\u308f\u304b\u308b\u306e\u304b\u3001\u78ba\u5b9a\u8a3a\u65ad\u306e\u65b9\u6cd5<\/li>\n<li>\u539f\u56e0\u907a\u4f1d\u5b50\u304c\u7570\u306a\u308b\u4ed6\u306e\u767a\u9054\u6027\u304a\u3088\u3073\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\uff08DEE85\u30fbDEE27\u30fbDEE17\u30fbDEE4\uff09\u3068\u306e\u9055\u3044<\/li>\n<li>\u6cbb\u7642\u30fb\u7642\u80b2\u306e\u9078\u629e\u80a2\u3068\u3001\u3054\u5bb6\u65cf\u304c\u5229\u7528\u3067\u304d\u308b\u652f\u63f4\u5236\u5ea6<\/li>\n<\/ul>\n<\/div>\n\n\n\n<p>\u533b\u5e2b\u304b\u3089Developmental and epileptic encephalopathy 54\u3068\u3044\u3046\u975e\u5e38\u306b\u9577\u304f\u3001\u805e\u304d\u6163\u308c\u306a\u3044\u8a3a\u65ad\u540d\u3092\u544a\u3052\u3089\u308c\u3001\u60c5\u5831\u3092\u6c42\u3081\u3066\u3053\u306e\u30da\u30fc\u30b8\u306b\u305f\u3069\u308a\u7740\u3044\u305f\u3054\u5bb6\u65cf\u306e\u7686\u69d8\u3078\u3002<\/p>\n\n\n\n<p>\u307e\u3060\u5c0f\u3055\u306a\u304a\u5b50\u69d8\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\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\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\u3067\u3059\u3002\u65e5\u672c\u8a9e\u3067\u66f8\u304b\u308c\u305f\u8a73\u3057\u3044\u60c5\u5831\u306f\u3001\u30a4\u30f3\u30bf\u30fc\u30cd\u30c3\u30c8\u4e0a\u3067\u3082\u307b\u3068\u3093\u3069\u898b\u5f53\u305f\u308a\u307e\u305b\u3093\u3002\u79c1\u81ea\u8eab\u3001\u5916\u6765\u3067\u3053\u3046\u3057\u305f\u8a3a\u65ad\u540d\u3092\u544a\u3052\u3089\u308c\u305f\u3054\u5bb6\u65cf\u304b\u3089\u300c\u8abf\u3079\u3066\u3082\u4f55\u3082\u51fa\u3066\u3053\u306a\u3044\u300d\u3068\u3044\u3046\u304a\u58f0\u3092\u4f3a\u3046\u3053\u3068\u304c\u5c11\u306a\u304f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u9577\u3044\u8a3a\u65ad\u540d\u3092\u65e5\u672c\u8a9e\u306b\u8a33\u3059\u3068\u3001\u767a\u9054\u6027\u304a\u3088\u3073\u3066\u3093\u304b\u3093\u6027\u8133\u75c754\u578b\u3068\u306a\u308a\u307e\u3059\u3002\u533b\u7642\u73fe\u5834\u3067\u306f\u3001\u982d\u6587\u5b57\u3092\u3068\u3063\u3066DEE54\uff08\u30c7\u30a3\u30fc\u30fb\u30a4\u30fc\u30fb\u30a4\u30fc\u30fb\u30b4\u30b8\u30e5\u30a6\u30e8\u30f3\uff09\u3068\u547c\u3070\u308c\u308b\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\u3059\u3002\u539f\u56e0\u3068\u306a\u308b\u907a\u4f1d\u5b50\u306e\u540d\u524d\u3092\u3068\u3063\u3066\u3001HNRNPU\u95a2\u9023\u795e\u7d4c\u767a\u9054\u75c7\u3068\u547c\u3070\u308c\u308b\u3053\u3068\u3082\u5897\u3048\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306f\u3001\u4e73\u5150\u671f\u306b\u3066\u3093\u304b\u3093\u767a\u4f5c\u304c\u59cb\u307e\u308a\u3001\u305d\u308c\u3068\u3068\u3082\u306b\u767a\u9054\u306e\u9045\u308c\u3084\u3001\u4f53\u306e\u67d4\u3089\u304b\u3055\uff08\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff09\u304c\u898b\u3089\u308c\u308b\u3068\u3044\u3046\u7279\u5fb4\u304c\u3042\u308a\u307e\u3059\u3002\u539f\u56e0\u306f\u3001HNRNPU\u3068\u3044\u3046\u7279\u5b9a\u306e\u907a\u4f1d\u5b50\u306e\u5909\u5316\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u8133\u75c7\u3068\u3044\u3046\u8a00\u8449\u308454\u578b\u3068\u3044\u3046\u6570\u5b57\u306b\u5727\u5012\u3055\u308c\u3066\u3057\u307e\u3046\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002\u3067\u3059\u304c\u3001\u3053\u306e\u6570\u5b57\u306f\u767a\u898b\u3055\u308c\u305f\u9806\u756a\u3084\u907a\u4f1d\u5b50\u306e\u7a2e\u985e\u3092\u533a\u5225\u3059\u308b\u305f\u3081\u306e\u756a\u53f7\u3067\u3042\u308a\u3001\u91cd\u75c7\u5ea6\u3092\u8868\u3059\u6570\u5b57\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u539f\u56e0\u304c\u907a\u4f1d\u5b50\u306b\u3042\u308b\u3068\u5206\u304b\u3063\u305f\u3053\u3068\u306f\u3001\u304a\u5b50\u3055\u3093\u306b\u5408\u3063\u305f\u7642\u80b2\u3084\u30b1\u30a2\u306e\u30d7\u30e9\u30f3\u3092\u8003\u3048\u308b\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=\"1_%E6%A6%82%E8%A6%81%EF%BC%9ADEE54%E3%81%A8%E3%81%AF%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E7%97%85%E6%B0%97%E3%81%8B\"><\/span><strong>1. \u6982\u8981\uff1aDEE54\u3068\u306f\u3069\u306e\u3088\u3046\u306a\u75c5\u6c17\u304b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u767a\u9054\u6027\u304a\u3088\u3073\u3066\u3093\u304b\u3093\u6027\u8133\u75c754\u578b\uff08DEE54\uff09\u306f\u3001\u751f\u307e\u308c\u3064\u304d\u306eHNRNPU\u907a\u4f1d\u5b50\u306e\u5909\u5316\u306b\u3088\u3063\u3066\u3001\u8133\u306e\u795e\u7d4c\u7d30\u80de\u306e\u50cd\u304d\u306b\u5f71\u97ff\u304c\u51fa\u308b\u75be\u60a3\u3067\u3059\u3002<\/strong>\u307e\u305a\u3001\u3053\u306e\u9577\u3044\u75c5\u540d\u306e\u610f\u5473\u3092\u6574\u7406\u3057\u307e\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%99%BA%E9%81%94%E6%80%A7%E3%83%BB%E3%81%A6%E3%82%93%E3%81%8B%E3%82%93%E6%80%A7%E3%83%BB%E8%84%B3%E7%97%87%E3%80%81%E3%81%9D%E3%82%8C%E3%81%9E%E3%82%8C%E3%81%AE%E6%84%8F%E5%91%B3\"><\/span><strong>\u767a\u9054\u6027\u30fb\u3066\u3093\u304b\u3093\u6027\u30fb\u8133\u75c7\u3001\u305d\u308c\u305e\u308c\u306e\u610f\u5473<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u767a\u9054\u6027\u3068\u306f\u3001\u751f\u307e\u308c\u6301\u3063\u305f\u907a\u4f1d\u5b50\u306e\u5909\u5316\u305d\u306e\u3082\u306e\u304c\u3001\u8133\u306e\u767a\u9054\u3084\u6210\u9577\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u3066\u3044\u308b\u3053\u3068\u3092\u610f\u5473\u3057\u307e\u3059\u3002\u3066\u3093\u304b\u3093\u767a\u4f5c\u304c\u306a\u304f\u3066\u3082\u767a\u9054\u306b\u8ab2\u984c\u304c\u751f\u3058\u308b\u4f53\u8cea\u3067\u3042\u308b\u3001\u3068\u3044\u3046\u70b9\u304c\u30dd\u30a4\u30f3\u30c8\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3066\u3093\u304b\u3093\u6027\u3068\u306f\u3001\u983b\u7e41\u306a\u767a\u4f5c\u3084\u8133\u6ce2\u306e\u6fc0\u3057\u3044\u4e71\u308c\u304c\u3001\u8133\u306e\u6a5f\u80fd\u3084\u767a\u9054\u306b\u3055\u3089\u306a\u308b\u5f71\u97ff\u3092\u4e0e\u3048\u3066\u3044\u308b\u72b6\u614b\u3092\u6307\u3057\u307e\u3059\u3002\u8133\u75c7\u3068\u306f\u3001\u8133\u5168\u4f53\u306e\u50cd\u304d\u306b\u5e83\u7bc4\u306a\u5f71\u97ff\u304c\u51fa\u3066\u3044\u308b\u72b6\u614b\u3092\u6307\u3059\u533b\u5b66\u7528\u8a9e\u3067\u3059\u3002\u3064\u307e\u308aDEE54\u306f\u3001\u907a\u4f1d\u5b50\u306e\u5f71\u97ff\u306b\u3088\u308b\u767a\u9054\u306e\u9045\u308c\u3068\u3001\u3066\u3093\u304b\u3093\u767a\u4f5c\u306b\u3088\u308b\u8133\u3078\u306e\u8ca0\u62c5\u304c\u5408\u308f\u3055\u3063\u3066\u75c7\u72b6\u304c\u73fe\u308c\u308b\u75c5\u6c17\u3068\u3044\u3048\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e54\u578b\u306f\u3001HNRNPU\uff08\u30a8\u30a4\u30c1\u30fb\u30a8\u30cc\u30fb\u30a2\u30fc\u30eb\u30fb\u30a8\u30cc\u30fb\u30d4\u30fc\u30fb\u30e6\u30fc\uff09\u3068\u3044\u3046\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u3053\u3068\u304c\u30012010\u5e74\u4ee3\u306e\u4e00\u9023\u306e\u7814\u7a76\u3067\u660e\u3089\u304b\u306b\u306a\u308a\u307e\u3057\u305f\u3002\u4ee5\u524d\u306f\u539f\u56e0\u4e0d\u660e\u306e\u767a\u9054\u9045\u6ede\u3084\u3066\u3093\u304b\u3093\u3068\u3055\u308c\u3066\u3044\u305f\u304a\u5b50\u3055\u3093\u306e\u4e2d\u306b\u3001\u3053\u306e\u907a\u4f1d\u5b50\u5909\u7570\u3092\u6301\u3064\u65b9\u304c\u4e00\u5b9a\u6570\u3044\u308b\u3053\u3068\u304c\u5206\u304b\u3063\u3066\u304d\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%90%8C%E3%81%98%E7%99%BA%E9%81%94%E6%80%A7%E3%81%8A%E3%82%88%E3%81%B3%E3%81%A6%E3%82%93%E3%81%8B%E3%82%93%E6%80%A7%E8%84%B3%E7%97%87%E3%81%A7%E3%82%82%E3%80%81%E5%8E%9F%E5%9B%A0%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%A7%E7%97%87%E7%8A%B6%E3%81%AE%E5%87%BA%E6%96%B9%E3%81%8C%E7%95%B0%E3%81%AA%E3%82%8A%E3%81%BE%E3%81%99\"><\/span><strong>\u540c\u3058\u767a\u9054\u6027\u304a\u3088\u3073\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\u3067\u3082\u3001\u539f\u56e0\u907a\u4f1d\u5b50\u3067\u75c7\u72b6\u306e\u51fa\u65b9\u304c\u7570\u306a\u308a\u307e\u3059<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30afNIPT\u3067\u306f\u3001\u767a\u9054\u6027\u304a\u3088\u3073\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\u306e\u4ed6\u306e\u578b\u306b\u3064\u3044\u3066\u3082\u5225\u8a18\u4e8b\u3067\u89e3\u8aac\u3057\u3066\u3044\u307e\u3059\u3002\u756a\u53f7\u304c\u8fd1\u3044\u3001\u3042\u308b\u3044\u306f\u4f3c\u305f\u540d\u524d\u3060\u304b\u3089\u3068\u3044\u3063\u3066\u3001\u75c7\u72b6\u3084\u7d4c\u904e\u304c\u540c\u3058\u3068\u306f\u9650\u308a\u307e\u305b\u3093\u3002\u539f\u56e0\u907a\u4f1d\u5b50\u3054\u3068\u306b\u3001\u7d30\u80de\u306e\u4e2d\u3067\u306e\u5f79\u5272\u304c\u307e\u3063\u305f\u304f\u7570\u306a\u308b\u305f\u3081\u3067\u3059\u3002<\/p>\n\n\n\n<figure class=\"wp-table-block\"><table><thead><tr><th>\u578b<\/th><th>\u539f\u56e0\u907a\u4f1d\u5b50<\/th><th>\u907a\u4f1d\u5b50\u306e\u4e3b\u306a\u50cd\u304d<\/th><th>\u75c7\u72b6\u306e\u50be\u5411<\/th><\/tr><\/thead><tbody><tr><td>DEE54\uff08\u672c\u8a18\u4e8b\uff09<\/td><td>HNRNPU<\/td><td>RNA\u30b9\u30d7\u30e9\u30a4\u30b7\u30f3\u30b0\u306e\u8abf\u6574\u30fb\u67d3\u8272\u4f53\u69cb\u9020\u306e\u7dad\u6301<\/td><td>\u4e73\u5150\u671f\u767a\u75c7\u306e\u3066\u3093\u304b\u3093\u3001\u4e2d\u7b49\u5ea6\u301c\u91cd\u5ea6\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3001\u8133\u6881\u306e\u83f2\u8584\u5316\u3092\u4f34\u3046\u3053\u3068\u304c\u3042\u308b<\/td><\/tr><tr><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/dee85-smc1a-midline-brain-defects-guide\/\">DEE85<\/a><\/td><td>SMC1A\uff08X\u67d3\u8272\u4f53\uff09<\/td><td>\u30b3\u30d2\u30fc\u30b7\u30f3\u8907\u5408\u4f53\uff08\u67d3\u8272\u4f53\u5206\u914d\u30fb\u8ee2\u5199\u8abf\u7bc0\uff09<\/td><td>\u5168\u524d\u8133\u80de\u75c7\u306a\u3069\u6b63\u4e2d\u7dda\u306e\u5f62\u6210\u7570\u5e38\u3092\u4f34\u3046\u3053\u3068\u304c\u3042\u308b\u304c\u5fc5\u767a\u3067\u306f\u306a\u3044<\/td><\/tr><tr><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-27-grin2b-guide\/\">DEE27<\/a><\/td><td>GRIN2B<\/td><td>NMDA\u578b\u30b0\u30eb\u30bf\u30df\u30f3\u9178\u53d7\u5bb9\u4f53\uff08\u8208\u596e\u6027\u30b7\u30ca\u30d7\u30b9\u4f1d\u9054\uff09<\/td><td>\u3066\u3093\u304b\u3093\u306b\u52a0\u3048\u3001\u7b4b\u7dca\u5f35\u306e\u7570\u5e38\u304c\u76ee\u7acb\u3061\u3084\u3059\u3044<\/td><\/tr><tr><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-17-gnao1-guide\/\">DEE17<\/a><\/td><td>GNAO1<\/td><td>G\u30bf\u30f3\u30d1\u30af\u8cea\uff08\u795e\u7d4c\u5185\u306e\u30b7\u30b0\u30ca\u30eb\u4f1d\u9054\uff09<\/td><td>\u3066\u3093\u304b\u3093\u306b\u52a0\u3048\u3001\u7a81\u7136\u306e\u7570\u5e38\u904b\u52d5\uff08\u30b8\u30b9\u30ad\u30cd\u30b8\u30a2\uff09\u3092\u4f34\u3044\u3084\u3059\u3044<\/td><\/tr><tr><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-4-stxbp1-guide\/\">DEE4<\/a><\/td><td>STXBP1<\/td><td>\u30b7\u30ca\u30d7\u30b9\u5c0f\u80de\u306e\u653e\u51fa\u5236\u5fa1\uff08\u795e\u7d4c\u4f1d\u9054\u7269\u8cea\u306e\u653e\u51fa\uff09<\/td><td>\u65e9\u671f\u304b\u3089\u306e\u591a\u5f69\u306a\u767a\u4f5c\u578b\u3001\u30a6\u30a8\u30b9\u30c8\u75c7\u5019\u7fa4\u3078\u306e\u79fb\u884c\u304c\u77e5\u3089\u308c\u308b<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<p>\u3053\u306e\u3088\u3046\u306b\u3001\u540c\u3058\u300c\u767a\u9054\u6027\u304a\u3088\u3073\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\u300d\u3068\u3044\u3046\u75c5\u540d\u30b0\u30eb\u30fc\u30d7\u3067\u3082\u3001\u907a\u4f1d\u5b50\u3054\u3068\u306b\u7d30\u80de\u5185\u3067\u306e\u5f79\u5272\u304c\u9055\u3046\u305f\u3081\u3001\u7d4c\u904e\u3084\u5408\u4f75\u75c7\u306e\u51fa\u65b9\u306b\u9055\u3044\u304c\u751f\u307e\u308c\u307e\u3059\u3002\u304a\u5b50\u3055\u3093\u306e\u8a3a\u65ad\u66f8\u306b\u8a18\u8f09\u3055\u308c\u305f\u907a\u4f1d\u5b50\u540d\u3092\u78ba\u8a8d\u3057\u3001\u8a72\u5f53\u3059\u308b\u8a18\u4e8b\u3082\u3042\u308f\u305b\u3066\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u907a\u4f1d\u5b50\u306f\u3001\u8133\u306e\u5f62\u3092\u4f5c\u308b\u4e0a\u3067\u3082\u5f79\u5272\u3092\u679c\u305f\u3057\u3066\u304a\u308a\u3001MRI\u691c\u67fb\u3067\u8133\u306e\u69cb\u9020\u7684\u306a\u7279\u5fb4\u304c\u898b\u3064\u304b\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u6b21\u306e\u7ae0\u304b\u3089\u3001\u75c7\u72b6\u3092\u4e00\u3064\u305a\u3064\u8a73\u3057\u304f\u898b\u3066\u3044\u304d\u307e\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E4%B8%BB%E3%81%AA%E7%97%87%E7%8A%B6\"><\/span><strong>2. \u4e3b\u306a\u75c7\u72b6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>DEE54\u306e\u75c7\u72b6\u306f\u3001\u767a\u9054\u306e\u9045\u308c\u30fb\u3066\u3093\u304b\u3093\u767a\u4f5c\u30fb\u305d\u306e\u4ed6\u306e\u8eab\u4f53\u7684\u306a\u7279\u5fb4\u306e\u4e09\u3064\u306b\u5927\u304d\u304f\u5206\u3051\u3089\u308c\u307e\u3059\u3002<\/strong>\u75c7\u72b6\u306e\u91cd\u3055\u3084\u51fa\u65b9\u306f\u304a\u5b50\u3055\u3093\u306b\u3088\u3063\u3066\u5e45\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u5b66\u8853\u6587\u732e\u306b\u307e\u3068\u3081\u3089\u308c\u305f\u983b\u5ea6\u306f\u6b21\u306e\u901a\u308a\u3067\u3059\u3002<\/p>\n\n\n\n<figure class=\"wp-table-block\"><table><thead><tr><th>\u7279\u5fb4<\/th><th>\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u983b\u5ea6<\/th><th>\u5099\u8003<\/th><\/tr><\/thead><tbody><tr><td>\u767a\u9054\u306e\u9045\u308c<\/td><td>100%<\/td><td>\u5831\u544a\u3055\u308c\u305f\u5168\u4f8b\u306b\u898b\u3089\u308c\u308b\u4e2d\u6838\u75c7\u72b6<\/td><\/tr><tr><td>\u7279\u5fb4\u7684\u306a\u9854\u3064\u304d<\/td><td>97%<\/td><td>\u975e\u5e38\u306b\u30de\u30a4\u30eb\u30c9\u306a\u3082\u306e\u304c\u591a\u3044<\/td><\/tr><tr><td>\u3066\u3093\u304b\u3093\u767a\u4f5c<\/td><td>95%<\/td><td>\u7d0490%\u304c\u751f\u5f8c24\u304b\u6708\u672a\u6e80\u3067\u521d\u767a\u3002\u5168\u822c\u5f37\u76f4\u9593\u4ee3\u767a\u4f5c\u304c\u7d0460%\u3001\u6b20\u795e\u767a\u4f5c\u304c\u7d0444%<\/td><\/tr><tr><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a><\/td><td>84%<\/td><td>\u4e2d\u7b49\u5ea6\u301c\u91cd\u5ea6\u304c\u591a\u3044<\/td><\/tr><tr><td>\u8a00\u8449\u306e\u9045\u308c<\/td><td>80%<\/td><td>\u767a\u8a9e\u304c\u4e4f\u3057\u3044\u3001\u307e\u305f\u306f\u898b\u3089\u308c\u306a\u3044\u3053\u3068\u304c\u591a\u3044<\/td><\/tr><tr><td>\u7b4b\u7dca\u5f35\u4f4e\u4e0b<\/td><td>79%<\/td><td>\u5148\u5929\u6027\u306e\u3082\u306e\u306f\u534a\u6570\u5f31<\/td><\/tr><tr><td>\u54fa\u4e73\u30fb\u6442\u98df\u306e\u56f0\u96e3<\/td><td>57%<\/td><td>\u7d4c\u7ba1\u6804\u990a\u3084\u80c3\u308d\u3046\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308b<\/td><\/tr><tr><td>\u884c\u52d5\u9762\u306e\u7279\u5fb4<\/td><td>50%<\/td><td>\u3046\u3061\u7d043\u5272\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7<\/a>\u306e\u8a3a\u65ad\u57fa\u6e96\u3092\u6e80\u305f\u3059<\/td><\/tr><tr><td>\u773c\u306e\u7570\u5e38\uff08\u659c\u8996\u306a\u3069\uff09<\/td><td>36%<\/td><td>\u659c\u8996\u304c\u6700\u3082\u591a\u3044<\/td><\/tr><tr><td>\u5fc3\u81d3\u306e\u69cb\u9020\u7570\u5e38<\/td><td>30%<\/td><td>\u5fc3\u623f\u4e2d\u9694\u6b20\u640d\u30fb\u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d\u304c\u591a\u3044<\/td><\/tr><tr><td>\u4f4e\u8eab\u9577<\/td><td>\u7d0450%<\/td><td>\u539f\u56e0\u306f\u307e\u3060\u7814\u7a76\u6bb5\u968e<\/td><\/tr><tr><td>\u814e\u81d3\u306e\u7570\u5e38<\/td><td>\u7d048%<\/td><td>\u814e\u4f4e\u5f62\u6210\u30fb\u814e\u76c2\u62e1\u5f35\u306a\u3069\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u308b<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<p>\u3053\u306e\u8868\u306e\u6570\u5b57\u306f\u3001GeneReviews\u306b\u96c6\u7a4d\u3055\u308c\u305f\u5831\u544a\u4f8b\u306b\u3082\u3068\u3065\u304f\u53c2\u8003\u5024\u3002\u4e16\u754c\u3067\u306e\u5831\u544a\u4f8b\u304c\u307e\u3060100\u4f8b\u306b\u6e80\u305f\u306a\u3044\u305f\u3081\u3001\u4eca\u5f8c\u306e\u7814\u7a76\u3067\u6570\u5b57\u304c\u5909\u308f\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u70b9\u306b\u3054\u7559\u610f\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E3%81%A6%E3%82%93%E3%81%8B%E3%82%93%E7%99%BA%E4%BD%9C\"><\/span><strong>1. \u3066\u3093\u304b\u3093\u767a\u4f5c<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u591a\u304f\u306e\u60a3\u8005\u3055\u3093\u3067\u3001\u751f\u5f8c24\u304b\u6708\u672a\u6e80\u306e\u4e73\u5e7c\u5150\u671f\u306b\u3066\u3093\u304b\u3093\u767a\u4f5c\u304c\u59cb\u307e\u308a\u307e\u3059\u3002\u767a\u4f5c\u304c\u306a\u3044\u60a3\u8005\u3055\u3093\u3082\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001\u75c7\u72b6\u306e\u5e45\u306f\u5e83\u3044\u75c5\u6c17\u3067\u3059\u3002<\/p>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%99%BA%E4%BD%9C%E3%81%AE%E3%82%BF%E3%82%A4%E3%83%97\"><\/span>\u767a\u4f5c\u306e\u30bf\u30a4\u30d7<span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>\u767a\u4f5c\u306e\u5f62\u306f\u69d8\u3005\u3067\u3059\u304c\u3001\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u30bf\u30a4\u30d7\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5168\u822c\u5f37\u76f4\u9593\u4ee3\u767a\u4f5c\uff1a\u5168\u8eab\u304c\u786c\u76f4\u3057\u305f\u3042\u3068\u306b\u30ac\u30af\u30ac\u30af\u3068\u9707\u3048\u308b\u3001\u7d0460%\u306b\u898b\u3089\u308c\u308b\u4ee3\u8868\u7684\u306a\u767a\u4f5c\u578b\u3002<\/p>\n\n\n\n<p>\u6b20\u795e\u767a\u4f5c\uff1a\u610f\u8b58\u304c\u6570\u79d2\u9593\u9014\u5207\u308c\u3001\u52d5\u4f5c\u304c\u6b62\u307e\u308b\u3001\u7d0444%\u306b\u5831\u544a\u3055\u308c\u308b\u767a\u4f5c\u578b\u3002<\/p>\n\n\n\n<p>\u307e\u308c\u306a\u767a\u4f5c\u578b\u3068\u3057\u3066\u3001\u30a6\u30a8\u30b9\u30c8\u75c7\u5019\u7fa4\uff08\u70b9\u982d\u3066\u3093\u304b\u3093\uff09\u3001\u30ec\u30ce\u30c3\u30af\u30b9\u30fb\u30ac\u30b9\u30c8\u30fc\u75c7\u5019\u7fa4\u3001\u30c9\u30a5\u30fc\u30bc\u75c7\u5019\u7fa4\u3078\u306e\u9032\u5c55\u3082\u3001\u305d\u308c\u305e\u308c\u6570\u4f8b\u305a\u3064\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%B2%BB%E7%99%82%E3%81%B8%E3%81%AE%E5%8F%8D%E5%BF%9C\"><\/span>\u6cbb\u7642\u3078\u306e\u53cd\u5fdc<span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>\u591a\u304f\u306e\u304a\u5b50\u3055\u3093\u3067\u3001\u6a19\u6e96\u7684\u306a\u6297\u3066\u3093\u304b\u3093\u85ac\u306b\u767a\u4f5c\u304c\u53cd\u5fdc\u3057\u307e\u3059\u3002\u305f\u3060\u3057\u3001\u8907\u6570\u306e\u85ac\u3092\u7d44\u307f\u5408\u308f\u305b\u305f\u308a\u3001\u30b1\u30c8\u30f3\u98df\u7642\u6cd5\uff08\u8102\u80aa\u5206\u3092\u591a\u304f\u3057\u305f\u98df\u4e8b\u7642\u6cd5\uff09\u3092\u691c\u8a0e\u3057\u305f\u308a\u3059\u308b\u4f8b\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%E3%81%A8%E7%A5%9E%E7%B5%8C%E3%81%AE%E7%97%87%E7%8A%B6\"><\/span><strong>2. \u767a\u9054\u3068\u795e\u7d4c\u306e\u75c7\u72b6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u767a\u4f5c\u3068\u4e26\u3093\u3067\u3001\u767a\u9054\u306e\u3086\u3063\u304f\u308a\u3055\u304c\u76ee\u7acb\u3064\u3088\u3046\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%99%BA%E9%81%94%E3%81%AE%E9%81%85%E3%82%8C%E3%81%A8%E7%9F%A5%E7%9A%84%E9%9A%9C%E5%AE%B3\"><\/span>\u767a\u9054\u306e\u9045\u308c\u3068\u77e5\u7684\u969c\u5bb3<span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>\u9996\u304c\u3059\u308f\u308b\u3001\u304a\u5ea7\u308a\u3092\u3059\u308b\u3001\u30cf\u30a4\u30cf\u30a4\u3092\u3059\u308b\u3068\u3044\u3063\u305f\u904b\u52d5\u9762\u306e\u767a\u9054\u304c\u3001\u4e00\u822c\u7684\u306a\u30da\u30fc\u30b9\u3088\u308a\u3086\u3063\u304f\u308a\u306b\u306a\u308a\u307e\u3059\u3002\u8a00\u8449\u306b\u3088\u308b\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u304c\u96e3\u3057\u304f\u3001\u767a\u8a9e\u304c\u4e4f\u3057\u3044\u304b\u898b\u3089\u308c\u306a\u3044\u304a\u5b50\u3055\u3093\u304c\u5927\u534a\u3067\u3059\u3002\u591a\u304f\u306e\u304a\u5b50\u3055\u3093\u304c\u7279\u5225\u652f\u63f4\u6559\u80b2\u3092\u5fc5\u8981\u3068\u3057\u307e\u3059\u304c\u3001\u652f\u63f4\u4f53\u5236\u306e\u3082\u3068\u3067\u901a\u5e38\u7d1a\u306b\u901a\u3046\u304a\u5b50\u3055\u3093\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u6210\u4eba\u3057\u305f\u5f8c\u3082\u3001\u4e00\u5b9a\u306e\u652f\u63f4\u3092\u53d7\u3051\u306a\u304c\u3089\u751f\u6d3b\u3059\u308b\u65b9\u304c\u307b\u3068\u3093\u3069\u3067\u3059\u3002<\/p>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%AD%8B%E7%B7%8A%E5%BC%B5%E4%BD%8E%E4%B8%8B\"><\/span>\u7b4b\u7dca\u5f35\u4f4e\u4e0b<span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>\u8d64\u3061\u3083\u3093\u306e\u9803\u3001\u4f53\u304c\u3075\u306b\u3083\u3075\u306b\u3083\u3068\u3057\u3066\u67d4\u3089\u304b\u3044\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u304c\u9ad8\u3044\u983b\u5ea6\u3067\u898b\u3089\u308c\u307e\u3059\u3002\u62b1\u3063\u3053\u3057\u305f\u6642\u306b\u305a\u3063\u3057\u308a\u3068\u91cd\u304f\u611f\u3058\u305f\u308a\u3001\u95a2\u7bc0\u304c\u67d4\u3089\u304b\u3059\u304e\u305f\u308a\u3057\u307e\u3059\u3002\u5e74\u9f62\u3092\u91cd\u306d\u308b\u3068\u3001\u4e00\u90e8\u306e\u304a\u5b50\u3055\u3093\u3067\u306f\u9006\u306b\u4f53\u304c\u786c\u304f\u306a\u308b\u75d9\u7e2e\u306b\u79fb\u884c\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%A1%8C%E5%8B%95%E9%9D%A2%E3%81%AE%E7%89%B9%E5%BE%B4\"><\/span>\u884c\u52d5\u9762\u306e\u7279\u5fb4<span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>\u534a\u6570\u7a0b\u5ea6\u306e\u304a\u5b50\u3055\u3093\u3067\u3001\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u3084\u793e\u4f1a\u6027\u306e\u9762\u3067\u306e\u56f0\u96e3\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u305d\u306e\u3046\u3061\u7d043\u5272\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7<\/a>\u306e\u8a3a\u65ad\u57fa\u6e96\u3092\u6e80\u305f\u3057\u3001\u305d\u308c\u4ee5\u5916\u306e\u304a\u5b50\u3055\u3093\u306b\u3082\u81ea\u9589\u7684\u306a\u7279\u5fb4\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u4e00\u65b9\u3067\u3001\u4eba\u61d0\u3063\u3053\u304f\u7a4f\u3084\u304b\u306a\u6027\u683c\u306e\u304a\u5b50\u3055\u3093\u3082\u591a\u3044\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u7761\u7720\u969c\u5bb3\uff08\u5bdd\u4ed8\u304d\u304c\u60aa\u3044\u3001\u591c\u4e2d\u306b\u4f55\u5ea6\u3082\u8d77\u304d\u308b\u3001\u7761\u7720\u6642\u7121\u547c\u5438\uff09\u306b\u60a9\u307e\u3055\u308c\u308b\u3054\u5bb6\u65cf\u3082\u5c11\u306a\u304f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E8%BA%AB%E4%BD%93%E7%9A%84%E3%81%AA%E7%89%B9%E5%BE%B4\"><\/span><strong>3. \u8eab\u4f53\u7684\u306a\u7279\u5fb4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>DEE54\u306e\u304a\u5b50\u3055\u3093\u306b\u306f\u3001\u795e\u7d4c\u4ee5\u5916\u306e\u8eab\u4f53\u7684\u306a\u8ab2\u984c\u3082\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%84%B3%E3%81%AE%E6%A7%8B%E9%80%A0%E3%81%AE%E7%89%B9%E5%BE%B4\"><\/span>\u8133\u306e\u69cb\u9020\u306e\u7279\u5fb4<span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>MRI\u691c\u67fb\u3092\u884c\u3063\u305f\u5831\u544a\u4f8b\u306e\u3046\u3061\u3001\u7d046\u5272\u306b\u4f55\u3089\u304b\u306e\u6240\u898b\u304c\u898b\u3064\u304b\u3063\u3066\u3044\u307e\u3059\u3002\u6700\u3082\u591a\u3044\u306e\u306f\u8133\u5ba4\uff08\u8133\u306e\u4e2d\u306e\u7a7a\u9593\uff09\u304c\u3084\u3084\u5e83\u304c\u308b\u8133\u5ba4\u62e1\u5927\u3067\u3001\u6b21\u3044\u3067\u53f3\u8133\u3068\u5de6\u8133\u3092\u3064\u306a\u3050\u8133\u6881\uff08\u306e\u3046\u308a\u3087\u3046\uff09\u304c\u8584\u3044\u8133\u6881\u83f2\u8584\u5316\u3067\u3059\u3002\u305f\u3060\u3057\u3001MRI\u3067\u660e\u3089\u304b\u306a\u7570\u5e38\u304c\u898b\u3064\u304b\u3089\u306a\u3044\u304a\u5b50\u3055\u3093\u3082\u4e00\u5b9a\u6570\u3044\u308b\u305f\u3081\u3001\u6b63\u5e38\u306a\u753b\u50cf\u6240\u898b\u3067\u3042\u3063\u3066\u3082\u3053\u306e\u75c5\u6c17\u304c\u5426\u5b9a\u3055\u308c\u308b\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%A1%94%E3%81%A4%E3%81%8D%E3%81%AE%E7%89%B9%E5%BE%B4\"><\/span>\u9854\u3064\u304d\u306e\u7279\u5fb4<span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>\u984d\u304c\u524d\u306b\u5f35\u308a\u51fa\u3057\u3066\u3044\u308b\u3001\u7709\u6bdb\u304c\u7d30\u304f\u30a2\u30fc\u30c1\u72b6\u306b\u4e0a\u304c\u3063\u3066\u3044\u308b\u3001\u4e0a\u307e\u3076\u305f\u3084\u4e0b\u307e\u3076\u305f\u306e\u5f62\u306b\u7279\u5fb4\u304c\u3042\u308b\u3001\u4e0a\u5507\u304c\u8584\u3044\u3001\u6b6f\u306e\u9593\u9694\u304c\u5e83\u3044\u306a\u3069\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u305f\u3060\u3057\u3001\u3053\u308c\u3089\u306fDEE54\u306b\u7279\u6709\u306e\u3082\u306e\u3067\u306f\u306a\u304f\u3001\u975e\u5e38\u306b\u30de\u30a4\u30eb\u30c9\u3067\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\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%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>\u305d\u306e\u4ed6\u306e\u8eab\u4f53\u75c7\u72b6<span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>\u304a\u3063\u3071\u3044\u3084\u30df\u30eb\u30af\u3092\u98f2\u3080\u529b\u304c\u5f31\u3044\u54fa\u4e73\u969c\u5bb3\uff08\u7d0457%\uff09\u3001\u5fc3\u81d3\u306e\u69cb\u9020\u7684\u306a\u554f\u984c\uff08\u7d0430%\uff09\u3001\u814e\u81d3\u306e\u554f\u984c\uff08\u7d048%\uff09\u3001\u7537\u5150\u3067\u306e\u505c\u7559\u7cbe\u5de3\uff08\u7d042\u5272\uff09\u306a\u3069\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u95a2\u7bc0\u306e\u67d4\u3089\u304b\u3055\u3084\u3001\u307e\u308c\u306b\u624b\u8db3\u306e\u6307\u306e\u6570\u30fb\u5f62\u306e\u9055\u3044\u304c\u5831\u544a\u3055\u308c\u305f\u4f8b\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=\"3_%E5%8E%9F%E5%9B%A0%EF%BC%9AHNRNPU%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AE%E5%83%8D%E3%81%8D\"><\/span><strong>3. \u539f\u56e0\uff1aHNRNPU\u907a\u4f1d\u5b50\u306e\u50cd\u304d<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>DEE54\u306e\u539f\u56e0\u306f\u3001\u7b2c1\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\u672b\u7aef\uff081q44\uff09\u306b\u3042\u308bHNRNPU\uff08\u30a8\u30a4\u30c1\u30fb\u30a8\u30cc\u30fb\u30a2\u30fc\u30eb\u30fb\u30a8\u30cc\u30fb\u30d4\u30fc\u30fb\u30e6\u30fc\uff09\u3068\u3044\u3046\u907a\u4f1d\u5b50\u306e\u5909\u5316\u3067\u3059\u3002<\/strong>\u306a\u305c\u3001\u3066\u3093\u304b\u3093\u304c\u8d77\u304d\u305f\u308a\u767a\u9054\u304c\u9045\u308c\u305f\u308a\u3059\u308b\u306e\u304b\u3001\u305d\u306e\u4ed5\u7d44\u307f\u3092\u9806\u306b\u898b\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"HNRNPU%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AE%E5%BD%B9%E5%89%B2\"><\/span><strong>HNRNPU\u907a\u4f1d\u5b50\u306e\u5f79\u5272<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3053\u306e\u907a\u4f1d\u5b50\u306f\u3001\u30d8\u30c6\u30ed\u6838\u30ea\u30dc\u30cc\u30af\u30ec\u30aa\u30bf\u30f3\u30d1\u30af\u8ceaU\u3068\u3044\u3046\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u4f5c\u308b\u305f\u3081\u306e\u8a2d\u8a08\u56f3\u3067\u3059\u3002\u5c11\u3057\u96e3\u3057\u3044\u540d\u524d\u3067\u3059\u304c\u3001\u3053\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u306f\u7d30\u80de\u306e\u4e2d\u3067\u3001DNA\u3084RNA\u306b\u7d50\u5408\u3059\u308b\u7de8\u96c6\u9577\u306e\u3088\u3046\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u79c1\u305f\u3061\u306e\u4f53\u3092\u4f5c\u308b\u907a\u4f1d\u5b50\u60c5\u5831\u306f\u3001DNA\u304b\u3089RNA\u3068\u3044\u3046\u30b3\u30d4\u30fc\u306b\u5199\u3057\u53d6\u3089\u308c\u3001\u305d\u3053\u304b\u3089\u30bf\u30f3\u30d1\u30af\u8cea\u304c\u4f5c\u3089\u308c\u307e\u3059\u3002\u3053\u306eRNA\u304c\u3067\u304d\u308b\u904e\u7a0b\u3067\u3001\u4e0d\u8981\u306a\u90e8\u5206\u3092\u5207\u308a\u53d6\u3063\u3066\u3064\u306a\u304e\u5408\u308f\u305b\u308b\u30b9\u30d7\u30e9\u30a4\u30b7\u30f3\u30b0\u3068\u3044\u3046\u7de8\u96c6\u4f5c\u696d\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p>HNRNPU\u30bf\u30f3\u30d1\u30af\u8cea\u306f\u3001\u3053\u306e\u7de8\u96c6\u4f5c\u696d\u306b\u52a0\u3048\u3001<strong>\u67d3\u8272\u4f53\u306e\u7acb\u4f53\u69cb\u9020\u306e\u7dad\u6301\u3001\u30c6\u30ed\u30e1\u30a2\u306e\u9577\u3055\u306e\u8abf\u7bc0\u3001\u7d30\u80de\u5206\u88c2\u306e\u5236\u5fa1<\/strong>\u306a\u3069\u3001\u8907\u6570\u306e\u5f79\u5272\u3092\u540c\u6642\u306b\u62c5\u3063\u3066\u3044\u307e\u3059\u3002\u8133\u30fb\u5fc3\u81d3\u30fb\u814e\u81d3\u30fb\u809d\u81d3\u30fb\u5c0f\u8133\u306a\u3069\u8907\u6570\u306e\u81d3\u5668\u3067\u50cd\u3044\u3066\u304a\u308a\u3001\u306a\u304b\u3067\u3082\u5c0f\u8133\u3067\u306e\u767a\u73fe\u304c\u5f37\u3044\u3053\u3068\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AE%E5%A4%89%E5%8C%96%E3%81%AB%E3%82%88%E3%82%8B%E5%BD%B1%E9%9F%BF\"><\/span><strong>\u907a\u4f1d\u5b50\u306e\u5909\u5316\u306b\u3088\u308b\u5f71\u97ff<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>HNRNPU\u907a\u4f1d\u5b50\u306b\u5909\u5316\u304c\u8d77\u304d\u308b\u3068\u3001\u3053\u306e\u7de8\u96c6\u9577\u30bf\u30f3\u30d1\u30af\u8cea\u304c\u3046\u307e\u304f\u4f5c\u3089\u308c\u306a\u304b\u3063\u305f\u308a\u3001\u91cf\u304c\u8db3\u308a\u306a\u304f\u306a\u3063\u305f\u308a\u3057\u307e\u3059\u3002\u3053\u308c\u3092\u30cf\u30d7\u30ed\u4e0d\u5168\u3068\u3044\u3044\u307e\u3059\u3002\u901a\u5e38\u3001\u907a\u4f1d\u5b50\u306f\u4e21\u89aa\u304b\u3089\u4e00\u3064\u305a\u3064\u53d7\u3051\u7d99\u3044\u30672\u3064\u6301\u3063\u3066\u3044\u307e\u3059\u304c\u3001\u7247\u65b9\u304c\u3046\u307e\u304f\u50cd\u304b\u306a\u304f\u306a\u308a\u3001\u6b8b\u308a\u306e\u4e00\u3064\u3060\u3051\u3067\u306f\u4ed5\u4e8b\u91cf\u304c\u8ffd\u3044\u3064\u304b\u306a\u3044\u72b6\u614b\u3067\u3059\u3002<strong>\u5b66\u8853\u7814\u7a76\u3067\u306f\u3001\u3053\u306e\u91cf\u4e0d\u8db3\u3053\u305d\u304c\u767a\u75c7\u306e\u4e3b\u306a\u30e1\u30ab\u30cb\u30ba\u30e0\u3060\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/strong><\/p>\n\n\n\n<p>\u7de8\u96c6\u9577\u304c\u4e0d\u5728\u3042\u308b\u3044\u306f\u904e\u52b4\u72b6\u614b\u306b\u306a\u308b\u3068\u3001\u8133\u306e\u767a\u9054\u306b\u5fc5\u8981\u306a\u4ed6\u306e\u907a\u4f1d\u5b50\u306e\u60c5\u5831\u304c\u6b63\u3057\u304f\u51e6\u7406\u3055\u308c\u305a\u3001\u795e\u7d4c\u7d30\u80de\u306e\u50cd\u304d\u306b\u4e71\u308c\u304c\u751f\u3058\u307e\u3059\u3002\u305d\u306e\u7d50\u679c\u3068\u3057\u3066\u3001\u3066\u3093\u304b\u3093\u767a\u4f5c\u304c\u8d77\u304d\u305f\u308a\u3001\u767a\u9054\u5168\u4f53\u306b\u9045\u308c\u304c\u751f\u3058\u305f\u308a\u3059\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%BA%E4%BC%9D%E3%81%AB%E3%81%A4%E3%81%84%E3%81%A6\"><\/span><strong>\u907a\u4f1d\u306b\u3064\u3044\u3066<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u591a\u304f\u306e\u3054\u5bb6\u65cf\u304c\u3001\u89aa\u304b\u3089\u907a\u4f1d\u3057\u305f\u306e\u304b\u3001\u598a\u5a20\u4e2d\u306e\u751f\u6d3b\u306b\u554f\u984c\u304c\u3042\u3063\u305f\u306e\u304b\u3068\u3054\u81ea\u8eab\u3092\u8cac\u3081\u3066\u3057\u307e\u308f\u308c\u307e\u3059\u3002HNRNPU\u95a2\u9023\u795e\u7d4c\u767a\u9054\u75c7\u306f\u3001\u5e38\u67d3\u8272\u4f53\u9855\u6027\u907a\u4f1d\u3068\u3044\u3046\u5f62\u5f0f\u306b\u5206\u985e\u3055\u308c\u307e\u3059\u3002\u7247\u65b9\u306e\u907a\u4f1d\u5b50\u306e\u5909\u5316\u3060\u3051\u3067\u767a\u75c7\u3057\u3046\u308b\u3001\u3068\u3044\u3046\u610f\u5473\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>\u3057\u304b\u3057\u3001\u5831\u544a\u3055\u308c\u3066\u3044\u308b\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<\/strong>\u3053\u308c\u306f\u3001\u3054\u4e21\u89aa\u306e\u907a\u4f1d\u5b50\u306b\u306f\u7570\u5e38\u304c\u306a\u304f\u3001\u7cbe\u5b50\u3084\u5375\u5b50\u304c\u4f5c\u3089\u308c\u308b\u904e\u7a0b\u3001\u3042\u308b\u3044\u306f\u53d7\u7cbe\u76f4\u5f8c\u306e\u7d30\u80de\u5206\u88c2\u306e\u6bb5\u968e\u3067\u3001\u5076\u7136\u306bHNRNPU\u907a\u4f1d\u5b50\u306b\u5909\u5316\u304c\u8d77\u304d\u305f\u3053\u3068\u3092\u610f\u5473\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\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\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\u306a\u304f\u3001\u8ab0\u306b\u3067\u3082\u8d77\u3053\u308a\u3046\u308b\u5076\u7136\u306e\u73fe\u8c61\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3054\u304d\u3087\u3046\u3060\u3044\u3078\u306e\u5f71\u97ff\u306b\u3064\u3044\u3066\u306f\u3001\u3054\u4e21\u89aa\u306e\u8840\u6db2\u691c\u67fb\u3067\u5909\u7570\u304c\u898b\u3064\u304b\u3089\u306a\u3044\u5834\u5408\u3067\u3082\u3001\u751f\u6b96\u7d30\u80de\u306b\u306e\u307f\u5909\u5316\u3092\u6301\u3064<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mosaicism\/\">\u30e2\u30b6\u30a4\u30af<\/a>\u3068\u3044\u3046\u72b6\u614b\u304c\u307e\u308c\u306b\u3042\u308b\u305f\u3081\u3001\u518d\u767a\u30ea\u30b9\u30af\u306f\u4e00\u822c\u96c6\u56e3\u3088\u308a\u308f\u305a\u304b\u306b\u9ad8\u3044\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u5168\u4f53\u3068\u3057\u3066\u306f\u4f4e\u3044\u6c34\u6e96\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u304a\u5b50\u3055\u3093\u3054\u672c\u4eba\u304c\u5c06\u6765\u304a\u5b50\u3055\u3093\u3092\u6301\u305f\u308c\u308b\u5834\u5408\u306b\u306f\u3001<strong>50%\u306e\u78ba\u7387\u3067\u540c\u3058\u907a\u4f1d\u5b50\u5909\u5316\u3092\u53d7\u3051\u7d99\u3050\u53ef\u80fd\u6027\u304c\u3042\u308b<\/strong>\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u3053\u308c\u307e\u3067\u306b\u751f\u6b96\u306b\u81f3\u3063\u305f\u5831\u544a\u4f8b\u306f\u307e\u3060\u3042\u308a\u307e\u305b\u3093\u3002\u5c06\u6765\u7684\u306a\u5bb6\u65cf\u8a08\u753b\u306b\u3064\u3044\u3066\u306f\u3001\u81e8\u5e8a\u907a\u4f1d\u5c02\u9580\u533b\u306b\u3088\u308b\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u500b\u5225\u306b\u3054\u76f8\u8ac7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E5%A6%8A%E5%A8%A0%E4%B8%AD%E3%81%AENIPT%EF%BC%88%E6%96%B0%E5%9E%8B%E5%87%BA%E7%94%9F%E5%89%8D%E8%A8%BA%E6%96%AD%EF%BC%89%E3%81%A8%E3%81%AE%E9%96%A2%E4%BF%82\"><\/span><strong>4. \u598a\u5a20\u4e2d\u306eNIPT\uff08\u65b0\u578b\u51fa\u751f\u524d\u8a3a\u65ad\uff09\u3068\u306e\u95a2\u4fc2<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>NIPT\u306e\u57fa\u672c\u691c\u67fb\u3067DEE54\u304c\u76f4\u63a5\u308f\u304b\u308b\u3053\u3068\u306f\u3001\u901a\u5e38\u3042\u308a\u307e\u305b\u3093\u3002<\/strong>\u300c\u598a\u5a20\u4e2d\u306eNIPT\u3067\u7570\u5e38\u304c\u306a\u304b\u3063\u305f\u306e\u306b\u3001\u306a\u305c\u751f\u307e\u308c\u3066\u304b\u3089\u8a3a\u65ad\u3055\u308c\u305f\u306e\u304b\u300d\u3068\u7591\u554f\u3092\u6301\u3064\u65b9\u3082\u591a\u3044\u305f\u3081\u3001\u3053\u3053\u3067\u691c\u67fb\u306e\u5bfe\u8c61\u7bc4\u56f2\u3092\u6574\u7406\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>NIPT\u306e\u57fa\u672c\u691c\u67fb\u306f\u300121\u30fb18\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/patau-syndrome\/\">13\u30c8\u30ea\u30bd\u30df\u30fc<\/a>\u306a\u3069\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/principles-of-nipt\/\">\u67d3\u8272\u4f53\u306e\u6570\u306e\u5909\u5316\u3092\u8abf\u3079\u308b\u691c\u67fb<\/a>\u3067\u3059\u3002HNRNPU\u907a\u4f1d\u5b50\u306e\u5909\u5316\u306f\u3001\u67d3\u8272\u4f53\u305d\u306e\u3082\u306e\u306e\u6570\u3084\u5927\u304d\u306a\u6b20\u5931\u30fb\u91cd\u8907\u3067\u306f\u306a\u304f\u3001\u907a\u4f1d\u5b50\u306e\u4e2d\u306e\u4e00\u90e8\u5206\u3060\u3051\u304c\u5909\u308f\u308b\u70b9\u5909\u7570\u3084\u3001\u5c0f\u3055\u306a\u633f\u5165\u30fb\u6b20\u5931\u3001\u30b9\u30d7\u30e9\u30a4\u30b9\u90e8\u4f4d\u306e\u5909\u7570\u304c\u4e2d\u5fc3\u3067\u3059\u3002\u305d\u306e\u305f\u3081\u3001<strong>\u901a\u5e38\u306eNIPT\u306e\u691c\u67fb\u5bfe\u8c61\u306b\u306f\u542b\u307e\u308c\u3066\u3044\u307e\u305b\u3093\u3002<\/strong><\/p>\n\n\n\n<p>\u8fd1\u5e74\u306f\u3001\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u3092\u5bfe\u8c61\u306b\u542b\u3080\u62e1\u5f35\u578b\u306e\u51fa\u751f\u524d\u691c\u67fb\u3082\u767b\u5834\u3057\u3066\u3044\u307e\u3059\u304c\u3001\u5bfe\u8c61\u3068\u306a\u308b\u75be\u60a3\u306e\u7bc4\u56f2\u306f\u691c\u67fb\u4f1a\u793e\u3084\u5546\u54c1\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u307e\u3059\u3002DEE54\u306f\u4e16\u754c\u3067\u306e\u5831\u544a\u4f8b\u304c\u307e\u3060100\u4f8b\u306b\u6e80\u305f\u306a\u3044\u3054\u304f\u5e0c\u5c11\u306a\u75be\u60a3\u6982\u5ff5\u306e\u305f\u3081\u3001\u73fe\u6642\u70b9\u3067\u4e00\u822c\u7684\u306a\u51fa\u751f\u524d\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u691c\u67fb\u306e\u5bfe\u8c61\u306b\u542b\u307e\u308c\u3066\u3044\u308b\u3053\u3068\u306f\u591a\u304f\u3042\u308a\u307e\u305b\u3093\u3002\u3054\u81ea\u8eab\u304c\u691c\u8a0e\u3055\u308c\u3066\u3044\u308b\u691c\u67fb\u30d7\u30e9\u30f3\u306e\u5bfe\u8c61\u75be\u60a3\u306f\u3001\u691c\u67fb\u3092\u53d7\u3051\u308b\u65bd\u8a2d\u306b\u76f4\u63a5\u304a\u554f\u3044\u5408\u308f\u305b\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<p>\u78ba\u5b9a\u8a3a\u65ad\u306f\u3001\u751f\u307e\u308c\u305f\u304a\u5b50\u3055\u3093\u306e\u8840\u6db2\u3092\u7528\u3044\u305f\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u306b\u3088\u3063\u3066\u884c\u308f\u308c\u308b\u306e\u304c\u4e00\u822c\u7684\u3067\u3059\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-intellectual-disability-statistics-probability\/\">NIPT\u3067\u5206\u304b\u308b\u77e5\u7684\u969c\u5bb3\u95a2\u9023\u306e\u78ba\u7387\u3084\u9650\u754c\u306b\u3064\u3044\u3066<\/a>\u3082\u3042\u308f\u305b\u3066\u3054\u78ba\u8a8d\u304f\u3060\u3055\u3044\u3002\u3059\u3067\u306b\u3054\u5bb6\u65cf\u306bHNRNPU\u95a2\u9023\u795e\u7d4c\u767a\u9054\u75c7\u306e\u767a\u75c7\u8005\u304c\u3044\u308b\u5834\u5408\u306e\u6b21\u306e\u598a\u5a20\u306b\u5411\u3051\u305f\u691c\u67fb\u306e\u9078\u629e\u80a2\u306f\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u500b\u5225\u306b\u3054\u76f8\u8ac7\u3044\u305f\u3060\u304f\u5185\u5bb9\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"5_%E8%A8%BA%E6%96%AD%E3%81%A8%E6%A4%9C%E6%9F%BB\"><\/span><strong>5. \u8a3a\u65ad\u3068\u691c\u67fb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u8a3a\u65ad\u306f\u3001\u75c7\u72b6\u306e\u89b3\u5bdf\u3001\u8133\u6ce2\u691c\u67fb\u3001\u753b\u50cf\u691c\u67fb\u3001\u305d\u3057\u3066\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u3092\u7d44\u307f\u5408\u308f\u305b\u3066\u884c\u308f\u308c\u307e\u3059\u3002<\/strong>\u305d\u308c\u305e\u308c\u306e\u691c\u67fb\u3067\u78ba\u8a8d\u3059\u308b\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_%E7%94%BB%E5%83%8F%E6%A4%9C%E6%9F%BB%EF%BC%88MRI%EF%BC%89\"><\/span><strong>1. \u753b\u50cf\u691c\u67fb\uff08MRI\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8133\u306e\u5f62\u3084\u69cb\u9020\u3092\u8a73\u3057\u304f\u8abf\u3079\u308b\u305f\u3081\u306bMRI\u691c\u67fb\u304c\u884c\u308f\u308c\u307e\u3059\u3002DEE54\u3067\u306f\u3001\u8133\u5ba4\u62e1\u5927\u3084\u8133\u6881\u306e\u83f2\u8584\u5316\u304c\u898b\u3064\u304b\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u8a3a\u65ad\u306e\u624b\u304c\u304b\u308a\u306e\u4e00\u3064\u306b\u306a\u308a\u307e\u3059\u3002\u305f\u3060\u3057\u524d\u8ff0\u306e\u901a\u308a\u3001\u753b\u50cf\u306b\u7570\u5e38\u304c\u898b\u3064\u304b\u3089\u306a\u3044\u60a3\u8005\u3055\u3093\u3082\u4e00\u5b9a\u6570\u3044\u308b\u70b9\u306b\u306f\u6ce8\u610f\u304c\u5fc5\u8981\u3067\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><strong>2. \u8133\u6ce2\u691c\u67fb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3066\u3093\u304b\u3093\u767a\u4f5c\u306e\u8a3a\u65ad\u3084\u3001\u8133\u306e\u6d3b\u52d5\u72b6\u614b\u3092\u8abf\u3079\u308b\u305f\u3081\u306b\u6b20\u304b\u305b\u306a\u3044\u691c\u67fb\u3067\u3059\u3002DEE54\u306e\u304a\u5b50\u3055\u3093\u306e\u8133\u6ce2\u3067\u306f\u3001\u3066\u3093\u304b\u3093\u6027\u306e\u7a81\u767a\u6ce2\uff08\u30b9\u30d1\u30a4\u30af\uff09\u304c\u898b\u3089\u308c\u308b\u307b\u304b\u3001\u8133\u5168\u4f53\u306e\u96fb\u6c17\u6d3b\u52d5\u304c\u3086\u3063\u304f\u308a\u306b\u306a\u308b\u5f90\u6ce2\u5316\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u767a\u4f5c\u306e\u30bf\u30a4\u30d7\u3092\u7279\u5b9a\u3057\u3001\u85ac\u3092\u9078\u3076\u305f\u3081\u306b\u3082\u5b9a\u671f\u7684\u306b\u884c\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E9%81%BA%E4%BC%9D%E5%AD%A6%E7%9A%84%E6%A4%9C%E6%9F%BB\"><\/span><strong>3. \u907a\u4f1d\u5b66\u7684\u691c\u67fb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u78ba\u5b9a\u8a3a\u65ad\u306e\u305f\u3081\u306b\u306f\u3001\u8840\u6db2\u3092\u63a1\u53d6\u3057\u3066DNA\u3092\u8abf\u3079\u308b\u691c\u67fb\u304c\u5fc5\u8981\u3067\u3059\u3002\u8fd1\u5e74\u666e\u53ca\u3057\u3066\u304d\u305f\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b5\u30fc\u3092\u7528\u3044\u305f\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\uff08WES\uff09\u3084\u3001\u3066\u3093\u304b\u3093\u95a2\u9023\u907a\u4f1d\u5b50\u30d1\u30cd\u30eb\u691c\u67fb\u304c\u884c\u308f\u308c\u308b\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\u3059\u3002\u3053\u308c\u306f\u3001\u907a\u4f1d\u5b50\u306e\u3046\u3061\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u4f5c\u308b\u90e8\u5206\u3092\u7db2\u7f85\u7684\u306b\u89e3\u8aad\u3059\u308b\u691c\u67fb\u3067\u3059\u3002DEE54\u306f\u75c7\u72b6\u3060\u3051\u3067\u306f\u4ed6\u306e\u767a\u9054\u6027\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\u3068\u533a\u5225\u304c\u3064\u304b\u306a\u3044\u3053\u3068\u304c\u591a\u304f\u3001\u3053\u306e\u7db2\u7f85\u7684\u306a\u907a\u4f1d\u5b50\u691c\u67fb\u3092\u884c\u3063\u3066\u521d\u3081\u3066HNRNPU\u907a\u4f1d\u5b50\u306e\u5909\u7570\u304c\u898b\u3064\u304b\u308a\u3001\u8a3a\u65ad\u306b\u81f3\u308b\u30b1\u30fc\u30b9\u304c\u307b\u3068\u3093\u3069\u3067\u3059\u3002\u307e\u308c\u306b\u3001\u907a\u4f1d\u5b50\u306e\u4e00\u90e8\u304c\u6b20\u3051\u3066\u3044\u308b\u5909\u5316\u3068\u3057\u3066\u898b\u3064\u304b\u308b\u4f8b\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"6_%E6%B2%BB%E7%99%82%E3%81%A8%E7%AE%A1%E7%90%86\"><\/span><strong>6. \u6cbb\u7642\u3068\u7ba1\u7406<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u73fe\u5728\u306e\u533b\u5b66\u3067\u306f\u3001\u907a\u4f1d\u5b50\u306e\u5909\u5316\u305d\u306e\u3082\u306e\u3092\u4fee\u5fa9\u3057\u3066\u75c5\u6c17\u3092\u6839\u672c\u304b\u3089\u6cbb\u3059\u6cbb\u7642\u6cd5\u306f\u307e\u3060\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002<\/strong>\u305d\u308c\u305e\u308c\u306e\u75c7\u72b6\u306b\u5bfe\u3059\u308b\u5bfe\u75c7\u7642\u6cd5\u3068\u30b5\u30dd\u30fc\u30c8\uff08\u7642\u80b2\uff09\u3092\u7a4d\u307f\u91cd\u306d\u308b\u3053\u3068\u3067\u3001\u304a\u5b50\u3055\u3093\u306e\u8ca0\u62c5\u3092\u548c\u3089\u3052\u3001\u751f\u6d3b\u306e\u8cea\uff08QOL\uff09\u3092\u4fdd\u3064\u3053\u3068\u306f\u5341\u5206\u306b\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n<figure class=\"wp-block-image size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2026\/01\/28046312_s.webp\" alt=\"\u767a\u9054\u6027\u304a\u3088\u3073\u3066\u3093\u304b\u3093\u6027\u8133\u75c754\u578b\uff08DEE54\uff09\u306e\u304a\u5b50\u3055\u3093\u3092\u898b\u5b88\u308b\u3054\u5bb6\u65cf\u306e\u30a4\u30e1\u30fc\u30b8\" class=\"wp-image-123194\"\/><\/figure>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E3%81%A6%E3%82%93%E3%81%8B%E3%82%93%E3%81%AE%E6%B2%BB%E7%99%82\"><\/span><strong>1. \u3066\u3093\u304b\u3093\u306e\u6cbb\u7642<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3066\u3093\u304b\u3093\u767a\u4f5c\u3092\u6e1b\u3089\u3059\u305f\u3081\u306b\u3001\u6297\u3066\u3093\u304b\u3093\u85ac\u306b\u3088\u308b\u6cbb\u7642\u3092\u884c\u3044\u307e\u3059\u3002\u5b66\u8853\u6587\u732e\u3067\u306f\u3001\u30d0\u30eb\u30d7\u30ed\u9178\u304c\u6700\u3082\u4f7f\u7528\u983b\u5ea6\u306e\u9ad8\u3044\u3001\u52b9\u679c\u7684\u306a\u85ac\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u305d\u306e\u307b\u304b\u3001\u30ec\u30d9\u30c1\u30e9\u30bb\u30bf\u30e0\u3001\u30af\u30ed\u30d0\u30b6\u30e0\u3001\u30c8\u30d4\u30e9\u30de\u30fc\u30c8\u3001\u30e9\u30e2\u30c8\u30ea\u30ae\u30f3\u306a\u3069\u3001\u767a\u4f5c\u306e\u30bf\u30a4\u30d7\u306b\u5408\u308f\u305b\u3066\u69d8\u3005\u306a\u304a\u85ac\u304c\u8a66\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\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\u3001\u96e3\u6cbb\u6027\u306e\u5834\u5408\u306f\u30b1\u30c8\u30f3\u98df\u7642\u6cd5\uff08\u8102\u80aa\u5206\u3092\u591a\u304f\u3001\u7cd6\u8cea\u3092\u5c11\u306a\u304f\u3057\u305f\u98df\u4e8b\u7642\u6cd5\uff09\u3084\u65b0\u3057\u3044\u6297\u3066\u3093\u304b\u3093\u85ac\u304c\u691c\u8a0e\u3055\u308c\u305f\u308a\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u30d0\u30eb\u30d7\u30ed\u9178\u3092\u4f7f\u3046\u5834\u5408\u306f\u3001\u809d\u6a5f\u80fd\u3084\u884c\u52d5\u9762\u306e\u5909\u5316\u3092\u5b9a\u671f\u7684\u306b\u78ba\u8a8d\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n<!--nipt_mono-->\r\n<div class=\"nipt-mono\">\r\n    <div class=\"nipt-mono-btn\">\r\n        <a href=\"\/nipt\/nipt-mono\/\">\r\n            <img decoding=\"async\" loading=\"lazy\" src=\"\/nipt\/wp-content\/uploads\/2026\/03\/NIPT-MONO.webp\" alt=\"NIPT-MONO\u3067\u8abf\u3079\u3089\u308c\u307e\u3059\">\r\n         <\/a>\r\n    <\/div>\r\n<\/div>\r\n\r\n<style>\r\n.nipt-mono {\r\n    text-align: center; \/* \u89aa\u8981\u7d20\u3067\u6a2a\u4e2d\u592e *\/\r\n}\r\n.nipt-mono a img {\r\n    display: inline-block; \/* \u753b\u50cf\u3092\u30a4\u30f3\u30e9\u30a4\u30f3\u30d6\u30ed\u30c3\u30af\u5316\u3057\u3066 text-align \u306b\u53cd\u6620 *\/\r\n    width: 333px;\r\n}\r\n<\/style>\r\n<!--\/nipt_mono-->\r\n\r\n\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E7%99%BA%E9%81%94%E6%94%AF%E6%8F%B4%E3%81%A8%E7%99%82%E8%82%B2%EF%BC%88%E3%83%AA%E3%83%8F%E3%83%93%E3%83%AA%E3%83%86%E3%83%BC%E3%82%B7%E3%83%A7%E3%83%B3%EF%BC%89\"><\/span><strong>2. \u767a\u9054\u652f\u63f4\u3068\u7642\u80b2\uff08\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u65e9\u671f\u304b\u3089\u306e\u7642\u80b2\u304c\u3001\u304a\u5b50\u3055\u3093\u306e\u6210\u9577\u3068\u751f\u6d3b\u306e\u5b89\u5b9a\u306b\u3064\u306a\u304c\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%90%86%E5%AD%A6%E7%99%82%E6%B3%95%EF%BC%88PT%EF%BC%89\"><\/span>\u7406\u5b66\u7642\u6cd5\uff08PT\uff09<span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>\u4f53\u306e\u67d4\u3089\u304b\u3055\uff08\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff09\u3084\u3001\u6210\u9577\u5f8c\u306e\u4f53\u306e\u786c\u3055\uff08\u75d9\u7e2e\uff09\u306b\u5bfe\u3057\u3066\u3001\u59ff\u52e2\u3092\u4fdd\u3064\u7df4\u7fd2\u3001\u7b4b\u8089\u3092\u3064\u3051\u308b\u904b\u52d5\u3001\u95a2\u7bc0\u304c\u786c\u304f\u306a\u3089\u306a\u3044\u30b9\u30c8\u30ec\u30c3\u30c1\u3092\u884c\u3044\u307e\u3059\u3002\u5ea7\u4f4d\u4fdd\u6301\u88c5\u7f6e\u3084\u8eca\u6905\u5b50\u3001\u30d0\u30ae\u30fc\u3001\u8db3\u5e95\u677f\uff08\u30a4\u30f3\u30bd\u30fc\u30eb\uff09\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\u307e\u3059\u3002<\/p>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%BD%9C%E6%A5%AD%E7%99%82%E6%B3%95%EF%BC%88OT%EF%BC%89%E3%83%BB%E8%A8%80%E8%AA%9E%E8%81%B4%E8%A6%9A%E7%99%82%E6%B3%95%EF%BC%88ST%EF%BC%89\"><\/span>\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09\u30fb\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09<span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>\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\u8a00\u8449\u306e\u7406\u89e3\u3092\u4fc3\u3059\u3060\u3051\u3067\u306a\u304f\u3001\u7d75\u30ab\u30fc\u30c9\u30fb\u30b8\u30a7\u30b9\u30c1\u30e3\u30fc\u30fb\u30b9\u30a4\u30c3\u30c1\u306a\u3069\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u306e\u65b9\u6cd5\u3092\u63a2\u308a\u307e\u3059\u3002\u98f2\u307f\u8fbc\u3080\u529b\uff08\u6442\u98df\u56a5\u4e0b\uff09\u306e\u8a13\u7df4\u3082\u884c\u3044\u3001\u98df\u4e8b\u306e\u5f62\u614b\u3084\u4ecb\u52a9\u306e\u59ff\u52e2\u306b\u3064\u3044\u3066\u6307\u5c0e\u3092\u53d7\u3051\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E6%A0%84%E9%A4%8A%E3%81%A8%E7%94%9F%E6%B4%BB%E9%9D%A2%E3%81%AE%E7%AE%A1%E7%90%86\"><\/span><strong>3. \u6804\u990a\u3068\u751f\u6d3b\u9762\u306e\u7ba1\u7406<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\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\u80c3\u308d\u3046\u3092\u4f5c\u3063\u305f\u308a\u3057\u3066\u6804\u990a\u3092\u78ba\u4fdd\u3057\u307e\u3059\u3002\u3053\u308c\u306f\u304a\u5b50\u3055\u3093\u306e\u6210\u9577\u3092\u4fc3\u3057\u3001\u4f53\u529b\u3092\u3064\u3051\u308b\u571f\u53f0\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7761\u7720\u969c\u5bb3\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u671d\u306b\u65e5\u5149\u3092\u6d74\u3073\u308b\u306a\u3069\u751f\u6d3b\u30ea\u30ba\u30e0\u3092\u6574\u3048\u308b\u5de5\u592b\u306b\u52a0\u3048\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u30e1\u30e9\u30c8\u30cb\u30f3\u306a\u3069\u306e\u7761\u7720\u5c0e\u5165\u5264\u3092\u4f7f\u7528\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u5fc3\u81d3\u3084\u814e\u81d3\u306b\u5408\u4f75\u75c7\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u5b9a\u671f\u7684\u306a\u8d85\u97f3\u6ce2\u691c\u67fb\u306a\u3069\u3001\u5c02\u9580\u533b\u306b\u3088\u308b\u7ba1\u7406\u3092\u53d7\u3051\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"7_%E7%99%BA%E9%81%94%E6%94%AF%E6%8F%B4%E3%81%A8%E3%81%94%E5%AE%B6%E6%97%8F%E3%81%B8%E3%81%AE%E3%82%B5%E3%83%9D%E3%83%BC%E3%83%88\"><\/span><strong>7. \u767a\u9054\u652f\u63f4\u3068\u3054\u5bb6\u65cf\u3078\u306e\u30b5\u30dd\u30fc\u30c8<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>DEE54\u306e\u3088\u3046\u306a\u5e0c\u5c11\u75be\u60a3\u306e\u304a\u5b50\u3055\u3093\u3092\u80b2\u3066\u308b\u4e2d\u3067\u306f\u3001\u533b\u7642\u9762\u306e\u30b1\u30a2\u306b\u52a0\u3048\u3066\u3001\u3054\u5bb6\u65cf\u306e\u751f\u6d3b\u5168\u4f53\u3092\u652f\u3048\u308b\u5236\u5ea6\u306e\u6d3b\u7528\u3082\u5927\u5207\u306a\u8996\u70b9\u3067\u3059\u3002<\/strong>\u79c1\u81ea\u8eab\u3001\u5916\u6765\u3067\u96e3\u6cbb\u6027\u306e\u3066\u3093\u304b\u3093\u3092\u6301\u3064\u304a\u5b50\u3055\u3093\u306e\u3054\u5bb6\u65cf\u304b\u3089\u3001\u901a\u9662\u306e\u8ca0\u62c5\u3084\u5c06\u6765\u3078\u306e\u4e0d\u5b89\u306b\u3064\u3044\u3066\u3054\u76f8\u8ac7\u3092\u53d7\u3051\u308b\u3053\u3068\u304c\u5c11\u306a\u304f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u5e0c\u5c11\u75be\u60a3\u306e\u60a3\u8005\u3055\u3093\u3068\u3054\u5bb6\u65cf\u5411\u3051\u306e\u60c5\u5831\u3084\u76f8\u8ac7\u7a93\u53e3\u3068\u3057\u3066\u306f\u3001\u96e3\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc\u304c\u75be\u60a3\u60c5\u5831\u3084\u533b\u7642\u8cbb\u52a9\u6210\u5236\u5ea6\u3092\u307e\u3068\u3081\u3066\u3044\u307e\u3059\u3002\u767a\u9054\u306e\u9045\u308c\u3084\u3066\u3093\u304b\u3093\u306b\u95a2\u3059\u308b\u7642\u80b2\u30fb\u652f\u63f4\u306e\u76f8\u8ac7\u5148\u3068\u3057\u3066\u306f\u3001\u56fd\u7acb\u969c\u5bb3\u8005\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u30bb\u30f3\u30bf\u30fc\u306e\u767a\u9054\u969c\u5bb3\u60c5\u5831\u30fb\u652f\u63f4\u30bb\u30f3\u30bf\u30fc\u304c\u5730\u57df\u306e\u7a93\u53e3\u3092\u7d39\u4ecb\u3057\u3066\u3044\u307e\u3059\u3002\u969c\u5bb3\u5150\u306e\u901a\u6240\u652f\u63f4\u3084\u76f8\u8ac7\u652f\u63f4\u306a\u3069\u516c\u7684\u306a\u798f\u7949\u30b5\u30fc\u30d3\u30b9\u306e\u67a0\u7d44\u307f\u306f\u3001\u3053\u3069\u3082\u5bb6\u5ead\u5e81\u304c\u65bd\u7b56\u3068\u3057\u3066\u6574\u7406\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u304d\u3087\u3046\u3060\u3044\u304c\u3044\u308b\u3054\u5bb6\u5ead\u3067\u306f\u3001\u304d\u3087\u3046\u3060\u3044\u5150\u306e\u30b1\u30a2\u3082\u898b\u904e\u3054\u305b\u306a\u3044\u30c6\u30fc\u30de\u3067\u3059\u3002\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u73fe\u5834\u3067\u306f\u3001\u300c\u306a\u305c\u81ea\u5206\u306e\u5b50\u3069\u3082\u306b\u300d\u3068\u3044\u3046\u554f\u3044\u3092\u6570\u591a\u304f\u304a\u805e\u304d\u3057\u307e\u3059\u3002\u307b\u3068\u3093\u3069\u304c\u65b0\u751f\u7a81\u7136\u5909\u7570\u3068\u3044\u3046\u907a\u4f1d\u5b66\u7684\u306a\u7279\u5fb4\u304c\u80cc\u666f\u306b\u3042\u308b\u3068\u304a\u4f1d\u3048\u3059\u308b\u3068\u3001\u5c11\u3057\u5b89\u5fc3\u3055\u308c\u308b\u65b9\u304c\u591a\u3044\u3068\u3044\u3046\u306e\u304c\u5b9f\u611f\u3067\u3059\u3002\u904e\u5ea6\u306a\u671f\u5f85\u3092\u6301\u3061\u3059\u304e\u305a\u3001\u5c02\u9580\u8077\u3068\u4e00\u7dd2\u306b\u300c\u4eca\u3067\u304d\u308b\u3053\u3068\u300d\u3092\u7a4d\u307f\u91cd\u306d\u3066\u3044\u304f\u59ff\u52e2\u304c\u3001\u9577\u304f\u4ed8\u304d\u5408\u3063\u3066\u3044\u304f\u3046\u3048\u3067\u306e\u652f\u3048\u306b\u306a\u308b\u3068\u611f\u3058\u3066\u3044\u307e\u3059\u3002\u3072\u3068\u308a\u3067\u62b1\u3048\u8fbc\u307e\u305a\u3001\u5c02\u9580\u5bb6\u306b\u76f8\u8ac7\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<div class=\"wp-block-buttons is-content-justification-center is-layout-flex wp-container-core-buttons-is-layout-16018d1d wp-block-buttons-is-layout-flex\">\n<div class=\"wp-block-button\"><a class=\"wp-block-button__link wp-element-button\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/line-registration\/\" target=\"_blank\" rel=\"noopener\">LINE\u3067\u7121\u6599\u76f8\u8ac7\u3059\u308b<\/a><\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"8_%E3%81%BE%E3%81%A8%E3%82%81\"><\/span><strong>8. \u307e\u3068\u3081<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u767a\u9054\u6027\u304a\u3088\u3073\u3066\u3093\u304b\u3093\u6027\u8133\u75c754\u578b\uff08DEE54\uff09\u306b\u3064\u3044\u3066\u306e\u91cd\u8981\u306a\u30dd\u30a4\u30f3\u30c8\u3092\u632f\u308a\u8fd4\u308a\u307e\u3059\u3002<\/strong><\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%97%85%E6%B0%97%E3%81%AE%E6%9C%AC%E8%B3%AA\"><\/span>\u75c5\u6c17\u306e\u672c\u8cea<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>HNRNPU\u907a\u4f1d\u5b50\u306e\u5909\u5316\u306b\u3088\u308a\u3001RNA\u306e\u7de8\u96c6\u3084\u67d3\u8272\u4f53\u69cb\u9020\u306e\u7dad\u6301\u304c\u3046\u307e\u304f\u3044\u304b\u305a\u3001\u795e\u7d4c\u306e\u50cd\u304d\u3084\u8133\u306e\u4e00\u90e8\u69cb\u9020\u306b\u5f71\u97ff\u304c\u51fa\u308b\u5148\u5929\u6027\u306e\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%B8%BB%E3%81%AA%E7%89%B9%E5%BE%B4\"><\/span>\u4e3b\u306a\u7279\u5fb4<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u4e73\u5e7c\u5150\u671f\u306e\u3066\u3093\u304b\u3093\u3001\u767a\u9054\u306e\u9045\u308c\u3001\u8457\u3057\u3044\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3001\u8133\u5ba4\u62e1\u5927\u3084\u8133\u6881\u306e\u83f2\u8584\u5316\u306a\u3069\u304c\u7279\u5fb4\u3067\u3059\u3002\u305f\u3060\u3057\u8133\u753b\u50cf\u306f\u6b63\u5e38\u306a\u304a\u5b50\u3055\u3093\u3082\u4e00\u5b9a\u6570\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%A6%E3%82%93%E3%81%8B%E3%82%93%E3%81%A8%E5%8E%9F%E5%9B%A0%E9%81%BA%E4%BC%9D%E5%AD%90\"><\/span>\u3066\u3093\u304b\u3093\u3068\u539f\u56e0\u907a\u4f1d\u5b50<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u30d0\u30eb\u30d7\u30ed\u9178\u3092\u4e2d\u5fc3\u3068\u3057\u305f\u85ac\u306e\u8abf\u6574\u3067\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3092\u76ee\u6307\u3057\u307e\u3059\u3002\u539f\u56e0\u306fHNRNPU\u907a\u4f1d\u5b50\u3067\u3001SMC1A\u3084GRIN2B\u306a\u3069\u4ed6\u306e\u578b\u3068\u306f\u7d30\u80de\u5185\u3067\u306e\u5f79\u5272\u304c\u7570\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%8E%9F%E5%9B%A0%E3%81%A8NIPT%E3%81%A8%E3%81%AE%E9%96%A2%E4%BF%82\"><\/span>\u539f\u56e0\u3068NIPT\u3068\u306e\u95a2\u4fc2<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u591a\u304f\u306f\u65b0\u751f\u7a81\u7136\u5909\u7570\u306b\u3088\u308b\u3082\u306e\u3067\u3001\u89aa\u306e\u305b\u3044\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u67d3\u8272\u4f53\u306e\u6570\u306e\u5909\u5316\u3092\u8abf\u3079\u308b\u901a\u5e38\u306eNIPT\u3067\u306f\u3001\u691c\u51fa\u5bfe\u8c61\u306b\u306a\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%82%B1%E3%82%A2%E3%81%AE%E8%A6%81%E7%82%B9\"><\/span>\u30b1\u30a2\u306e\u8981\u70b9<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u767a\u4f5c\u306e\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3060\u3051\u3067\u306a\u304f\u3001\u30ea\u30cf\u30d3\u30ea\u3001\u6804\u990a\u7ba1\u7406\u3001\u7761\u7720\u7ba1\u7406\u306a\u3069\u5168\u8eab\u3092\u30c8\u30fc\u30bf\u30eb\u3067\u30b1\u30a2\u3059\u308b\u8996\u70b9\u304c\u6b20\u304b\u305b\u307e\u305b\u3093\u3002\u3042\u308f\u305b\u3066\u3001\u3054\u5bb6\u65cf\u5411\u3051\u306e\u76f8\u8ac7\u7a93\u53e3\u3084\u652f\u63f4\u5236\u5ea6\u3082\u6d3b\u7528\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<p>\u4eca\u56de\u3001DEE54\u306b\u3064\u3044\u3066\u56fd\u5185\u3067\u306e\u5b9f\u4f53\u9a13\u306b\u57fa\u3065\u304f\u6295\u7a3f\u3092X\uff08\u65e7Twitter\uff09\u3067\u63a2\u3057\u307e\u3057\u305f\u304c\u3001\u76f4\u8fd1\u306e\u6295\u7a3f\u3067\u306f\u898b\u5f53\u305f\u308a\u307e\u305b\u3093\u3067\u3057\u305f\u3002\u4e16\u754c\u3067\u306e\u5831\u544a\u4f8b\u304c\u307e\u3060100\u4f8b\u306b\u6e80\u305f\u306a\u3044\u3054\u304f\u5e0c\u5c11\u306a\u75be\u60a3\u3067\u3042\u308b\u305f\u3081\u3001\u4e00\u6b21\u60c5\u5831\u304c\u4e4f\u3057\u3044\u306e\u306f\u81ea\u7136\u306a\u3053\u3068\u3067\u3059\u3002\u672c\u8a18\u4e8b\u3067\u306f\u4ee3\u308f\u308a\u306b\u3001GeneReviews\u306b\u63b2\u8f09\u3055\u308c\u305f\u56fd\u969b\u7684\u306a\u75c7\u4f8b\u96c6\u7a4d\u8ad6\u6587\u3084\u3001PubMed\u53ce\u8f09\u306e\u5b66\u8853\u8ad6\u6587\u306a\u3069\u3001\u56fd\u5185\u5916\u306e\u5b66\u8853\u30fb\u516c\u7684\u60c5\u5831\u3092\u6839\u62e0\u3068\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<div class=\"wp-block-buttons is-content-justification-center is-layout-flex wp-container-core-buttons-is-layout-16018d1d wp-block-buttons-is-layout-flex\">\n<div class=\"wp-block-button\"><a class=\"wp-block-button__link wp-element-button\" href=\"https:\/\/mypage-nipt-reservation.hiro-clinic.or.jp\/registration\" target=\"_blank\" rel=\"noopener\">NIPT\u306e\u4e88\u7d04\u306f\u3053\u3061\u3089<\/a><\/div>\n\n\n\n<div class=\"wp-block-button is-style-outline is-style-outline--1\"><a class=\"wp-block-button__link wp-element-button\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/plan-finder\/\" target=\"_blank\" rel=\"noopener\">\u30d7\u30e9\u30f3\u8a3a\u65ad\u3067\u691c\u67fb\u9805\u76ee\u3092\u78ba\u8a8d\u3059\u308b<\/a><\/div>\n<\/div>\n\n\n\n<p>\u304a\u96fb\u8a71\u3067\u306e\u3054\u76f8\u8ac7\u3082\u53d7\u3051\u4ed8\u3051\u3066\u3044\u307e\u3059\u3002<a href=\"tel:0120169629\">0120-169-629<\/a>\u307e\u3067\u304a\u6c17\u8efd\u306b\u304a\u554f\u3044\u5408\u308f\u305b\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%82%88%E3%81%8F%E3%81%82%E3%82%8B%E8%B3%AA%E5%95%8F\"><\/span><strong>\u3088\u304f\u3042\u308b\u8cea\u554f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"DEE54%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%A7%E3%81%99%E3%81%8B%E3%80%82\"><\/span>DEE54\u3068\u306f\u3069\u306e\u3088\u3046\u306a\u75c5\u6c17\u3067\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6b63\u5f0f\u306b\u306f\u300c\u767a\u9054\u6027\u304a\u3088\u3073\u3066\u3093\u304b\u3093\u6027\u8133\u75c754\u578b\u300d\u3068\u3044\u3044\u3001\u7b2c1\u756a\u67d3\u8272\u4f53\u9577\u8155\u672b\u7aef\uff081q44\uff09\u306b\u3042\u308bHNRNPU\u907a\u4f1d\u5b50\u306e\u5909\u5316\u306b\u3088\u3063\u3066\u3001\u4e73\u5150\u671f\u304b\u3089\u306e\u3066\u3093\u304b\u3093\u767a\u4f5c\u3068\u767a\u9054\u306e\u9045\u308c\u304c\u751f\u3058\u308b\u5e0c\u5c11\u75be\u60a3\u3067\u3059\u3002\u8133\u5ba4\u62e1\u5927\u3084\u8133\u6881\u306e\u83f2\u8584\u5316\u3092\u4f34\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u5fc5\u767a\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%A9%E3%81%AE%E3%81%8F%E3%82%89%E3%81%84%E3%81%AE%E9%A0%BB%E5%BA%A6%E3%81%A7%E8%A6%8B%E3%82%89%E3%82%8C%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u3069\u306e\u304f\u3089\u3044\u306e\u983b\u5ea6\u3067\u898b\u3089\u308c\u307e\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u4eba\u53e3\u5185\u3067\u306e\u767a\u751f\u983b\u5ea6\u306f\u307e\u3060\u7b97\u51fa\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002GeneReviews\u306b\u96c6\u7a4d\u3055\u308c\u305f\u5b66\u8853\u5831\u544a\u3067\u306f\u3001\u3053\u308c\u307e\u3067\u306b83\u4f8b\u304c\u78ba\u8a8d\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u907a\u4f1d\u5b50\u89e3\u6790\u6280\u8853\u306e\u666e\u53ca\u3068\u3068\u3082\u306b\u5831\u544a\u304c\u5897\u3048\u3066\u304d\u305f\u3001\u6bd4\u8f03\u7684\u65b0\u3057\u3044\u75be\u60a3\u6982\u5ff5\u306e\u305f\u3081\u3001\u4eca\u5f8c\u3055\u3089\u306b\u75c7\u4f8b\u304c\u660e\u3089\u304b\u306b\u306a\u3063\u3066\u3044\u304f\u3068\u8003\u3048\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%A6%E3%82%93%E3%81%8B%E3%82%93%E7%99%BA%E4%BD%9C%E3%81%AB%E3%81%AF%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E6%B2%BB%E7%99%82%E3%81%8C%E3%81%82%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u3066\u3093\u304b\u3093\u767a\u4f5c\u306b\u306f\u3069\u306e\u3088\u3046\u306a\u6cbb\u7642\u304c\u3042\u308a\u307e\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u30d0\u30eb\u30d7\u30ed\u9178\u3092\u4e2d\u5fc3\u3068\u3057\u305f\u6297\u3066\u3093\u304b\u3093\u85ac\u306b\u3088\u308b\u6cbb\u7642\u304c\u57fa\u672c\u3067\u3059\u3002\u767a\u4f5c\u306e\u30bf\u30a4\u30d7\u306b\u5fdc\u3058\u3066\u8907\u6570\u306e\u85ac\u3092\u7d44\u307f\u5408\u308f\u305b\u308b\u3053\u3068\u3082\u3042\u308a\u3001\u96e3\u6cbb\u6027\u306e\u5834\u5408\u306f\u30b1\u30c8\u30f3\u98df\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=\"%E8%84%B3%E6%A2%81%E3%81%AE%E7%95%B0%E5%B8%B8%E3%81%AF%E5%BF%85%E3%81%9A%E8%A6%8B%E3%82%89%E3%82%8C%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u8133\u6881\u306e\u7570\u5e38\u306f\u5fc5\u305a\u898b\u3089\u308c\u307e\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5fc5\u767a\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002MRI\u691c\u67fb\u3092\u884c\u3063\u305f\u5831\u544a\u4f8b\u306e\u7d046\u5272\u306b\u4f55\u3089\u304b\u306e\u6240\u898b\u304c\u3042\u308a\u3001\u305d\u306e\u3046\u3061\u6700\u3082\u591a\u3044\u306e\u306f\u8133\u5ba4\u62e1\u5927\u3067\u3001\u8133\u6881\u306e\u83f2\u8584\u5316\u306f\u305d\u308c\u306b\u6b21\u3050\u983b\u5ea6\u3067\u3059\u3002\u753b\u50cf\u306b\u7570\u5e38\u304c\u306a\u304f\u3066\u3082\u3001\u3053\u306e\u75c5\u6c17\u304c\u5426\u5b9a\u3055\u308c\u308b\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%A6%AA%E3%81%8B%E3%82%89%E9%81%BA%E4%BC%9D%E3%81%97%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82%E6%AC%A1%E3%81%AE%E5%AD%90%E3%81%A9%E3%82%82%E3%81%AB%E3%82%82%E5%BD%B1%E9%9F%BF%E3%81%97%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u89aa\u304b\u3089\u907a\u4f1d\u3057\u307e\u3059\u304b\u3002\u6b21\u306e\u5b50\u3069\u3082\u306b\u3082\u5f71\u97ff\u3057\u307e\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u75c7\u4f8b\u306e\u307b\u3068\u3093\u3069\u306f\u3001\u304a\u5b50\u3055\u3093\u306e\u4ee3\u3067\u521d\u3081\u3066\u751f\u3058\u305f\u65b0\u751f\u7a81\u7136\u5909\u7570\uff08de 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mosaicism\/\">\u30e2\u30b6\u30a4\u30af<\/a>\u306e\u53ef\u80fd\u6027\u304b\u3089\u3054\u304f\u4e00\u822c\u3088\u308a\u308f\u305a\u304b\u306b\u9ad8\u3044\u3068\u3055\u308c\u307e\u3059\u304c\u3001\u5168\u4f53\u3068\u3057\u3066\u306f\u4f4e\u3044\u6c34\u6e96\u3067\u3059\u3002\u6b21\u306e\u304a\u5b50\u3055\u3093\u3078\u306e\u5f71\u97ff\u306b\u3064\u3044\u3066\u306f\u3001\u81e8\u5e8a\u907a\u4f1d\u5c02\u9580\u533b\u306b\u3088\u308b\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u500b\u5225\u306b\u3054\u78ba\u8a8d\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%A6%8A%E5%A8%A0%E4%B8%AD%E3%81%AENIPT%E3%81%A7%E3%81%93%E3%81%AE%E7%97%85%E6%B0%97%E3%81%AF%E3%82%8F%E3%81%8B%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u598a\u5a20\u4e2d\u306eNIPT\u3067\u3053\u306e\u75c5\u6c17\u306f\u308f\u304b\u308a\u307e\u3059\u304b\u3002<span 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    \"text\": \"\u540c\u3058\u75c5\u540d\u30b0\u30eb\u30fc\u30d7\u3067\u3082\u3001\u539f\u56e0\u907a\u4f1d\u5b50\u304c\u7570\u306a\u308c\u3070\u7d30\u80de\u5185\u3067\u306e\u5f79\u5272\u3082\u7570\u306a\u308a\u307e\u3059\u3002DEE54\u306fRNA\u30b9\u30d7\u30e9\u30a4\u30b7\u30f3\u30b0\u3084\u67d3\u8272\u4f53\u69cb\u9020\u306b\u95a2\u308f\u308bHNRNPU\u304c\u539f\u56e0\u3067\u3059\u304c\u3001DEE85\u306f\u30b3\u30d2\u30fc\u30b7\u30f3\u8907\u5408\u4f53\u306eSMC1A\u3001DEE27\u306fNMDA\u53d7\u5bb9\u4f53\u306eGRIN2B\u3001DEE17\u306fG\u30bf\u30f3\u30d1\u30af\u8cea\u306eGNAO1\u304c\u539f\u56e0\u3067\u3059\u3002\"\n      }\n    }\n  ]\n}\n<\/script>\n\n\n<p style=\"font-size:0.85em;color:#777;\">\u53c2\u8003\u60c5\u5831\uff1a<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK578573\/\" target=\"_blank\" rel=\"noopener\">HNRNPU-Related Neurodevelopmental Disorder\uff5cGeneReviews\uff08NCBI Bookshelf\u30fb\u7c73\u56fd\u56fd\u7acb\u533b\u5b66\u56f3\u66f8\u9928\uff09<\/a>\uff0f<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/28815871\/\" target=\"_blank\" rel=\"noopener\">Clinical and molecular characterization of de novo loss of function variants in HNRNPU\uff5cAmerican Journal of Medical Genetics Part A\uff08PubMed\u30fb\u7c73\u56fd\u56fd\u7acb\u533b\u5b66\u56f3\u66f8\u9928\uff09<\/a>\uff0f<a href=\"https:\/\/www.nanbyou.or.jp\/\" target=\"_blank\" rel=\"noopener\">\u96e3\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/a>\uff0f<a href=\"https:\/\/www.rehab.go.jp\/ddis\/\" target=\"_blank\" rel=\"noopener\">\u767a\u9054\u969c\u5bb3\u60c5\u5831\u30fb\u652f\u63f4\u30bb\u30f3\u30bf\u30fc\uff08\u56fd\u7acb\u969c\u5bb3\u8005\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u30bb\u30f3\u30bf\u30fc\uff09<\/a>\uff0f<a href=\"https:\/\/www.cfa.go.jp\/policies\/shougaijishien\/\" target=\"_blank\" rel=\"noopener\">\u969c\u5bb3\u5150\u652f\u63f4\u65bd\u7b56\uff5c\u3053\u3069\u3082\u5bb6\u5ead\u5e81<\/a><\/p>\n\n","protected":false},"excerpt":{"rendered":"\u767a\u9054\u6027\u304a\u3088\u3073\u3066\u3093\u304b\u3093\u6027\u8133\u75c754\u578b\uff08DEE54\uff09\u306fHNRNPU\u907a\u4f1d\u5b50\u304c\u539f\u56e0\u306e\u3054\u304f\u5e0c\u5c11\u306a\u75be\u60a3\u3067\u3059\u3002\u75c7\u72b6\u30fb\u539f\u56e0\u30fbNIPT\u3068\u306e\u95a2\u4fc2\u30fb\u6cbb\u7642\u3068\u3054\u5bb6\u65cf\u3078\u306e\u30b5\u30dd\u30fc\u30c8\u3092\u533b\u5e2b\u76e3\u4fee\u3067\u89e3\u8aac\u3057\u307e\u3059\u3002","protected":false},"author":129,"featured_media":121578,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[1392],"tags":[],"class_list":["post-123316","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-1392"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/123316","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/users\/129"}],"replies":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/comments?post=123316"}],"version-history":[{"count":3,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/123316\/revisions"}],"predecessor-version":[{"id":134433,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/123316\/revisions\/134433"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/121578"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=123316"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=123316"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=123316"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}