{"id":123267,"date":"2026-01-16T12:19:28","date_gmt":"2026-01-16T03:19:28","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=123267"},"modified":"2026-07-08T08:54:37","modified_gmt":"2026-07-07T23:54:37","slug":"developmental-epileptic-encephalopathy-26-kcnb1-guide","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-26-kcnb1-guide\/","title":{"rendered":"\u767a\u9054\u6027\u304a\u3088\u3073\u3066\u3093\u304b\u3093\u6027\u8133\u75c726\u578b\uff08Developmental and epileptic encephalopathy 26\uff09"},"content":{"rendered":"\n<div style=\"border:solid #ffe6e6 0.8rem;background-color: #fff9f9;padding:3% 5%;margin:1rem 0 3rem;\"><h2 style=\"margin-top:1rem;\">\u3053\u306e\u8a18\u4e8b\u306e\u307e\u3068\u3081<\/h2><p><strong>\u767a\u9054\u6027\u3066\u3093\u304b\u3093\u6027\u8133\u75c726\u578b\u306f\u3001KCNB1\u3068\u3044\u3046\u4e00\u3064\u306e\u907a\u4f1d\u5b50\u306e\u5909\u5316\u306b\u95a2\u9023\u3057\u3001\u4e73\u5e7c\u5150\u671f\u304b\u3089\u3066\u3093\u304b\u3093\u767a\u4f5c\u3068\u767a\u9054\u306e\u9045\u308c\u304c\u91cd\u306a\u3063\u3066\u73fe\u308c\u308b\u3001\u3068\u3066\u3082\u6570\u306e\u5c11\u306a\u3044\u75c5\u6c17\u3067\u3059\u3002<\/strong>\u591a\u304f\u306f\u89aa\u304b\u3089\u53d7\u3051\u7d99\u3044\u3060\u3082\u306e\u3067\u306f\u306a\u304f\u3001\u65b0\u305f\u306b\u751f\u3058\u305f\u5909\u5316\uff08de novo\uff09\u3067\u8d77\u3053\u308a\u3001\u75c7\u72b6\u306e\u91cd\u3055\u306b\u306f\u5e45\u304c\u3042\u308a\u307e\u3059\u3002\u8a3a\u65ad\u306f\u8133\u6ce2\u30fb\u753b\u50cf\u30fb\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u3092\u7d44\u307f\u5408\u308f\u305b\u3066\u884c\u3044\u3001\u6cbb\u7642\u306f\u767a\u4f5c\u306e\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3068\u767a\u9054\u652f\u63f4\u304c\u67f1\u306b\u306a\u308a\u307e\u3059\u3002\u598a\u5a66\u3055\u3093\u304c\u53d7\u3051\u308bNIPT\u306f\u3001\u4e3b\u306b21\u30fb18\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/patau-syndrome\/\">13\u30c8\u30ea\u30bd\u30df\u30fc<\/a>\u306a\u3069\u7279\u5b9a\u306e\u67d3\u8272\u4f53\u3092\u8abf\u3079\u308b\u975e\u78ba\u5b9a\u7684\u306a\u691c\u67fb\u3002KCNB1\u306e\u3088\u3046\u306a\u5358\u4e00\u306e\u907a\u4f1d\u5b50\u304c\u95a2\u308f\u308b\u3053\u306e\u75c5\u6c17\u306f\u3001\u4e00\u822c\u7684\u306aNIPT\u306e\u5bfe\u8c61\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u8a3a\u65ad\u3084\u898b\u901a\u3057\u306e\u76f8\u8ac7\u306f\u3001\u4e3b\u6cbb\u533b\u3084\u907a\u4f1d\u306e\u5c02\u9580\u5916\u6765\u3078\u3064\u306a\u3044\u3067\u304f\u3060\u3055\u3044\u3002<\/p><\/div>\n\n\n\n<div style=\"border:1px solid #e8608a;border-radius:8px;background:#fff5f8;padding:4% 5%;margin:1rem 0 2.5rem;\">\n<p style=\"font-weight:bold;font-size:1.05em;margin-top:0;\">\u3053\u306e\u8a18\u4e8b\u3067\u308f\u304b\u308b\u3053\u3068<\/p>\n<ul style=\"margin-bottom:0;\">\n<li>\u767a\u9054\u6027\u3066\u3093\u304b\u3093\u6027\u8133\u75c726\u578b\u3068\u306f\u3069\u3093\u306a\u75c5\u6c17\u3067\u3001KCNB1\u907a\u4f1d\u5b50\u3068\u3069\u3046\u95a2\u308f\u308b\u306e\u304b<\/li>\n<li>\u4e73\u5e7c\u5150\u671f\u306e\u3066\u3093\u304b\u3093\u767a\u4f5c\u30fb\u767a\u9054\u306e\u9045\u308c\u30fb\u884c\u52d5\u9762\u306a\u3069\u3001\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u4e3b\u306a\u75c7\u72b6<\/li>\n<li>\u8a3a\u65ad\u306e\u9032\u3081\u65b9\uff08\u8133\u6ce2\u30fb\u753b\u50cf\u30fb\u907a\u4f1d\u5b66\u7684\u691c\u67fb\uff09\u3068\u3001\u6cbb\u7642\u30fb\u7642\u80b2\u30fb\u5bb6\u65cf\u652f\u63f4\u306e\u8003\u3048\u65b9<\/li>\n<li>NIPT\u3067\u8abf\u3079\u3089\u308c\u308b\u7bc4\u56f2\u306e\u9650\u754c\u3068\u3001\u51fa\u751f\u524d\u306e\u691c\u67fb\u3068\u3069\u3046\u5411\u304d\u5408\u3046\u304b\u306e\u30d2\u30f3\u30c8<\/li>\n<\/ul>\n<\/div>\n\n\n\n\n\n\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_85 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">\u76ee\u6b21<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" height=\"10px\" viewBox=\"0 0 24 24\" version=\"1.2\" baseProfile=\"tiny\"><path d=\"M18.2 9.3l-6.2-6.3-6.2 6.3c-.2.2-.3.4-.3.7s.1.5.3.7c.2.2.4.3.7.3h11c.3 0 .5-.1.7-.3.2-.2.3-.5.3-.7s-.1-.5-.3-.7zM5.8 14.7l6.2 6.3 6.2-6.3c.2-.2.3-.5.3-.7s-.1-.5-.3-.7c-.2-.2-.4-.3-.7-.3h-11c-.3 0-.5.1-.7.3-.2.2-.3.5-.3.7s.1.5.3.7z\"\/><\/svg><\/span><\/span><\/span><\/a><\/span><\/div>\n<nav><ul class='ez-toc-list ez-toc-list-level-1 ' ><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-1\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-26-kcnb1-guide\/#%E7%99%BA%E9%81%94%E6%80%A7%E3%81%A6%E3%82%93%E3%81%8B%E3%82%93%E6%80%A7%E8%84%B3%E7%97%8726%E5%9E%8B%E3%81%A8%E3%81%AF%EF%BD%9CKCNB1%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%A8%E3%81%AE%E9%96%A2%E3%82%8F%E3%82%8A\" >\u767a\u9054\u6027\u3066\u3093\u304b\u3093\u6027\u8133\u75c726\u578b\u3068\u306f\uff5cKCNB1\u907a\u4f1d\u5b50\u3068\u306e\u95a2\u308f\u308a<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-26-kcnb1-guide\/#KCNB1%E9%96%A2%E9%80%A3%E3%81%AE%E7%97%85%E6%B0%97%E3%81%A8%E3%81%84%E3%81%86%E5%BA%83%E3%81%8C%E3%82%8A\" >KCNB1\u95a2\u9023\u306e\u75c5\u6c17\u3068\u3044\u3046\u5e83\u304c\u308a<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-26-kcnb1-guide\/#%E4%B8%BB%E3%81%AA%E7%97%87%E7%8A%B6%EF%BD%9C%E4%B9%B3%E5%B9%BC%E5%85%90%E6%9C%9F%E3%81%AE%E7%99%BA%E4%BD%9C%E3%81%A8%E7%99%BA%E9%81%94%E3%81%AE%E9%81%85%E3%82%8C\" >\u4e3b\u306a\u75c7\u72b6\uff5c\u4e73\u5e7c\u5150\u671f\u306e\u767a\u4f5c\u3068\u767a\u9054\u306e\u9045\u308c<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-26-kcnb1-guide\/#%E3%81%A6%E3%82%93%E3%81%8B%E3%82%93%E7%99%BA%E4%BD%9C\" >\u3066\u3093\u304b\u3093\u767a\u4f5c<\/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\/developmental-epileptic-encephalopathy-26-kcnb1-guide\/#%E7%99%BA%E9%81%94%E3%81%A8%E9%81%8B%E5%8B%95%E3%81%AE%E9%81%85%E3%82%8C\" >\u767a\u9054\u3068\u904b\u52d5\u306e\u9045\u308c<\/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\/developmental-epileptic-encephalopathy-26-kcnb1-guide\/#%E8%A1%8C%E5%8B%95%E9%9D%A2%E3%81%AE%E7%89%B9%E5%BE%B4\" >\u884c\u52d5\u9762\u306e\u7279\u5fb4<\/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\/developmental-epileptic-encephalopathy-26-kcnb1-guide\/#%E5%8E%9F%E5%9B%A0%EF%BD%9CKCNB1%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%A8%E7%A5%9E%E7%B5%8C%E3%81%AE%E9%9B%BB%E6%B0%97%E4%BF%A1%E5%8F%B7\" >\u539f\u56e0\uff5cKCNB1\u907a\u4f1d\u5b50\u3068\u795e\u7d4c\u306e\u96fb\u6c17\u4fe1\u53f7<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-26-kcnb1-guide\/#%E5%A4%9A%E3%81%8F%E3%81%AF%E6%96%B0%E3%81%9F%E3%81%AB%E7%94%9F%E3%81%98%E3%81%9F%E5%A4%89%E5%8C%96%EF%BC%88de_novo%EF%BC%89\" >\u591a\u304f\u306f\u65b0\u305f\u306b\u751f\u3058\u305f\u5909\u5316\uff08de novo\uff09<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-26-kcnb1-guide\/#%E8%A8%BA%E6%96%AD%E3%81%A8%E6%A4%9C%E6%9F%BB%EF%BD%9C%E7%A2%BA%E5%AE%9A%E3%81%AB%E3%81%AF%E9%81%BA%E4%BC%9D%E5%AD%A6%E7%9A%84%E6%A4%9C%E6%9F%BB%E3%81%8C%E5%BF%85%E8%A6%81\" >\u8a3a\u65ad\u3068\u691c\u67fb\uff5c\u78ba\u5b9a\u306b\u306f\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u304c\u5fc5\u8981<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-26-kcnb1-guide\/#%E6%B2%BB%E7%99%82%E3%81%A8%E7%AE%A1%E7%90%86%EF%BD%9C%E7%99%BA%E4%BD%9C%E3%81%AE%E3%82%B3%E3%83%B3%E3%83%88%E3%83%AD%E3%83%BC%E3%83%AB%E3%81%A8%E7%99%BA%E9%81%94%E6%94%AF%E6%8F%B4\" >\u6cbb\u7642\u3068\u7ba1\u7406\uff5c\u767a\u4f5c\u306e\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3068\u767a\u9054\u652f\u63f4<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-26-kcnb1-guide\/#NIPT%E3%81%A7%E5%88%86%E3%81%8B%E3%82%8B%E3%81%93%E3%81%A8%E3%83%BB%E5%88%86%E3%81%8B%E3%82%89%E3%81%AA%E3%81%84%E3%81%93%E3%81%A8\" >NIPT\u3067\u5206\u304b\u308b\u3053\u3068\u30fb\u5206\u304b\u3089\u306a\u3044\u3053\u3068<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-12\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-26-kcnb1-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-13\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-26-kcnb1-guide\/#Q_%E7%99%BA%E9%81%94%E6%80%A7%E3%81%A6%E3%82%93%E3%81%8B%E3%82%93%E6%80%A7%E8%84%B3%E7%97%8726%E5%9E%8B%E3%81%AF%E9%81%BA%E4%BC%9D%E3%81%97%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\" >Q. \u767a\u9054\u6027\u3066\u3093\u304b\u3093\u6027\u8133\u75c726\u578b\u306f\u907a\u4f1d\u3057\u307e\u3059\u304b\uff1f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-26-kcnb1-guide\/#Q_NIPT%E3%81%A7%E3%81%93%E3%81%AE%E7%97%85%E6%B0%97%E3%81%AF%E5%88%86%E3%81%8B%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\" >Q. NIPT\u3067\u3053\u306e\u75c5\u6c17\u306f\u5206\u304b\u308a\u307e\u3059\u304b\uff1f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-15\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-26-kcnb1-guide\/#Q_%E7%99%BA%E4%BD%9C%E3%81%AF%E8%96%AC%E3%81%A7%E3%81%8A%E3%81%95%E3%81%BE%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\" >Q. \u767a\u4f5c\u306f\u85ac\u3067\u304a\u3055\u307e\u308a\u307e\u3059\u304b\uff1f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-26-kcnb1-guide\/#Q_26%E5%9E%8B%E3%81%AE%E3%80%8C26%E3%80%8D%E3%81%AF%E9%87%8D%E7%97%87%E5%BA%A6%E3%82%92%E8%A1%A8%E3%81%97%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\" >Q. 26\u578b\u306e\u300c26\u300d\u306f\u91cd\u75c7\u5ea6\u3092\u8868\u3057\u307e\u3059\u304b\uff1f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-26-kcnb1-guide\/#Q_%E6%97%A9%E6%9C%9F%E3%81%AE%E7%99%82%E8%82%B2%E3%81%AB%E3%81%AF%E3%81%A9%E3%82%93%E3%81%AA%E6%84%8F%E5%91%B3%E3%81%8C%E3%81%82%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\" >Q. \u65e9\u671f\u306e\u7642\u80b2\u306b\u306f\u3069\u3093\u306a\u610f\u5473\u304c\u3042\u308a\u307e\u3059\u304b\uff1f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-18\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-26-kcnb1-guide\/#Q_%E5%87%BA%E7%94%9F%E5%89%8D%E3%81%AB%E6%A4%9C%E6%9F%BB%E3%82%92%E5%8F%97%E3%81%91%E3%82%8B%E3%81%8B%E8%BF%B7%E3%81%A3%E3%81%A6%E3%81%84%E3%81%BE%E3%81%99%E3%80%82%E3%81%A9%E3%81%86%E8%80%83%E3%81%88%E3%82%8C%E3%81%B0%E3%82%88%E3%81%84%E3%81%A7%E3%81%99%E3%81%8B%EF%BC%9F\" >Q. \u51fa\u751f\u524d\u306b\u691c\u67fb\u3092\u53d7\u3051\u308b\u304b\u8ff7\u3063\u3066\u3044\u307e\u3059\u3002\u3069\u3046\u8003\u3048\u308c\u3070\u3088\u3044\u3067\u3059\u304b\uff1f<\/a><\/li><\/ul><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%99%BA%E9%81%94%E6%80%A7%E3%81%A6%E3%82%93%E3%81%8B%E3%82%93%E6%80%A7%E8%84%B3%E7%97%8726%E5%9E%8B%E3%81%A8%E3%81%AF%EF%BD%9CKCNB1%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%A8%E3%81%AE%E9%96%A2%E3%82%8F%E3%82%8A\"><\/span>\u767a\u9054\u6027\u3066\u3093\u304b\u3093\u6027\u8133\u75c726\u578b\u3068\u306f\uff5cKCNB1\u907a\u4f1d\u5b50\u3068\u306e\u95a2\u308f\u308a<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u767a\u9054\u6027\u3066\u3093\u304b\u3093\u6027\u8133\u75c726\u578b\u306f\u3001KCNB1\u3068\u3044\u3046\u4e00\u3064\u306e\u907a\u4f1d\u5b50\u306e\u5909\u5316\u306b\u95a2\u9023\u3057\u3001\u4e73\u5e7c\u5150\u671f\u304b\u3089\u3066\u3093\u304b\u3093\u767a\u4f5c\u3068\u767a\u9054\u306e\u9045\u308c\u304c\u91cd\u306a\u3063\u3066\u73fe\u308c\u308b\u3001\u6570\u306e\u5c11\u306a\u3044\u75c5\u6c17\u3067\u3059\u3002<\/strong>\u533b\u7642\u73fe\u5834\u3067\u306f\u75c5\u540d\u3092\u6570\u5b57\u306e\u578b\u3067\u533a\u5225\u3057\u307e\u3059\u304c\u3001\u3053\u306e26\u3068\u3044\u3046\u756a\u53f7\u306f\u898b\u3064\u304b\u3063\u305f\u9806\u756a\u3092\u8868\u3059\u3082\u306e\u3002\u91cd\u75c7\u5ea6\u306e\u9806\u4f4d\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u307e\u305a\u306f\u3001\u75c5\u540d\u304c\u793a\u3059\u610f\u5473\u3092\u3072\u3068\u3064\u305a\u3064\u898b\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u767a\u9054\u6027\u300d\u3068\u306f\u3001\u751f\u307e\u308c\u6301\u3063\u305f\u907a\u4f1d\u5b50\u306e\u5909\u5316\u305d\u306e\u3082\u306e\u304c\u8133\u306e\u767a\u9054\u306b\u5f71\u97ff\u3059\u308b\u3053\u3068\u3092\u6307\u3057\u307e\u3059\u3002\u767a\u4f5c\u306e\u6709\u7121\u306b\u304b\u304b\u308f\u3089\u305a\u3001\u767a\u9054\u306b\u8ab2\u984c\u304c\u751f\u3058\u3084\u3059\u3044\u4f53\u8cea\u3068\u3044\u3046\u610f\u5473\u3067\u3059\u3002\u300c\u3066\u3093\u304b\u3093\u6027\u300d\u306f\u3001\u304f\u308a\u8fd4\u3059\u767a\u4f5c\u3084\u8133\u6ce2\u306e\u4e71\u308c\u304c\u3001\u8133\u306e\u50cd\u304d\u306b\u3055\u3089\u306b\u8ca0\u62c5\u3092\u304b\u3051\u308b\u72b6\u614b\u3092\u8868\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u8133\u75c7\u300d\u306f\u3001\u8133\u5168\u4f53\u306e\u50cd\u304d\u306b\u5e45\u5e83\u304f\u5f71\u97ff\u304c\u53ca\u3093\u3067\u3044\u308b\u72b6\u614b\u3092\u793a\u3059\u533b\u5b66\u306e\u8a00\u8449\u3067\u3059\u3002\u3064\u307e\u308a\u3053\u306e\u75c5\u6c17\u306f\u3001\u907a\u4f1d\u5b50\u306b\u3088\u308b\u767a\u9054\u3078\u306e\u5f71\u97ff\u3068\u3001\u767a\u4f5c\u306b\u3088\u308b\u8133\u3078\u306e\u8ca0\u62c5\u3068\u3044\u3046\u4e8c\u3064\u306e\u8981\u7d20\u304c\u91cd\u306a\u3063\u3066\u75c7\u72b6\u304c\u73fe\u308c\u307e\u3059\u3002\u539f\u56e0\u3068\u306a\u308b\u907a\u4f1d\u5b50\u304c2014\u5e74\u3054\u308d\u306e\u7814\u7a76\u3067KCNB1\u3068\u7279\u5b9a\u3055\u308c\u3001\u5c11\u3057\u305a\u3064\u7406\u89e3\u304c\u9032\u3093\u3067\u304d\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<p>\u983b\u5ea6\u306f\u3068\u3066\u3082\u4f4e\u304f\u3001\u6b63\u78ba\u306a\u7d71\u8a08\u306f\u307e\u3060\u3042\u308a\u307e\u305b\u3093\u300210\u4e07\u4eba\u306b1\u4eba\u3088\u308a\u3082\u5c11\u306a\u3044\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u305f\u3060\u3001\u907a\u4f1d\u5b50\u3092\u8abf\u3079\u308b\u6280\u8853\u304c\u9032\u3093\u3060\u3053\u3068\u3067\u3001\u539f\u56e0\u4e0d\u660e\u3068\u3055\u308c\u3066\u3044\u305f\u3066\u3093\u304b\u3093\u3084\u767a\u9054\u306e\u9045\u308c\u306e\u4e2d\u304b\u3089KCNB1\u306e\u5909\u5316\u304c\u898b\u3064\u304b\u308b\u4f8b\u304c\u3001\u5c11\u3057\u305a\u3064\u5897\u3048\u3066\u304d\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<figure class=\"wp-block-image aligncenter\" style=\"margin:1.5rem auto;\">\n<svg role=\"img\" aria-label=\"\u767a\u9054\u6027\u3066\u3093\u304b\u3093\u6027\u8133\u75c726\u578b\u3067\u898b\u3089\u308c\u308b\u4e09\u3064\u306e\u67f1\u3092\u793a\u3057\u305f\u56f3\u3002\u3066\u3093\u304b\u3093\u767a\u4f5c\u3001\u767a\u9054\u306e\u9045\u308c\u3001\u884c\u52d5\u9762\u306e\u7279\u5fb4\" viewBox=\"0 0 720 260\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" style=\"max-width:720px;width:100%;height:auto;font-family:sans-serif;\">\n  <rect x=\"0\" y=\"0\" width=\"720\" height=\"260\" fill=\"#fff9fb\"\/>\n  <text x=\"360\" y=\"40\" text-anchor=\"middle\" font-size=\"20\" fill=\"#5a2b3a\">\u3053\u306e\u75c5\u6c17\u3067\u898b\u3089\u308c\u308b\u4e09\u3064\u306e\u67f1<\/text>\n  <rect x=\"30\" y=\"70\" width=\"200\" height=\"140\" rx=\"12\" fill=\"#f6b8cd\"\/>\n  <text x=\"130\" y=\"115\" text-anchor=\"middle\" font-size=\"18\" fill=\"#5a2b3a\">\u3066\u3093\u304b\u3093\u767a\u4f5c<\/text>\n  <text x=\"130\" y=\"150\" text-anchor=\"middle\" font-size=\"14\" fill=\"#5a2b3a\">\u4e73\u5e7c\u5150\u671f\u304b\u3089<\/text>\n  <text x=\"130\" y=\"172\" text-anchor=\"middle\" font-size=\"14\" fill=\"#5a2b3a\">\u591a\u5f69\u306a\u30bf\u30a4\u30d7<\/text>\n  <rect x=\"260\" y=\"70\" width=\"200\" height=\"140\" rx=\"12\" fill=\"#fbe1eb\"\/>\n  <text x=\"360\" y=\"115\" text-anchor=\"middle\" font-size=\"18\" fill=\"#5a2b3a\">\u767a\u9054\u306e\u9045\u308c<\/text>\n  <text x=\"360\" y=\"150\" text-anchor=\"middle\" font-size=\"14\" fill=\"#5a2b3a\">\u8a00\u8449\u30fb\u904b\u52d5\u30fb\u77e5\u7684<\/text>\n  <text x=\"360\" y=\"172\" text-anchor=\"middle\" font-size=\"14\" fill=\"#5a2b3a\">\u91cd\u3055\u306b\u5e45\u304c\u3042\u308b<\/text>\n  <rect x=\"490\" y=\"70\" width=\"200\" height=\"140\" rx=\"12\" fill=\"#f6b8cd\"\/>\n  <text x=\"590\" y=\"115\" text-anchor=\"middle\" font-size=\"18\" fill=\"#5a2b3a\">\u884c\u52d5\u9762\u306e\u7279\u5fb4<\/text>\n  <text x=\"590\" y=\"150\" text-anchor=\"middle\" font-size=\"14\" fill=\"#5a2b3a\">\u3053\u3060\u308f\u308a\u30fb\u591a\u52d5<\/text>\n  <text x=\"590\" y=\"172\" text-anchor=\"middle\" font-size=\"14\" fill=\"#5a2b3a\">\u611f\u899a\u306e\u904e\u654f\u3055<\/text>\n  <text x=\"360\" y=\"240\" text-anchor=\"middle\" font-size=\"14\" fill=\"#9a6070\">\u75c7\u72b6\u306e\u51fa\u65b9\u3084\u91cd\u3055\u306f\u3001\u304a\u5b50\u3055\u3093\u306b\u3088\u3063\u3066\u5927\u304d\u304f\u7570\u306a\u308a\u307e\u3059<\/text>\n<\/svg>\n<figcaption>\u767a\u9054\u6027\u3066\u3093\u304b\u3093\u6027\u8133\u75c726\u578b\u3067\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u4e3b\u306a\u75c7\u72b6\u306e\u5168\u4f53\u50cf<\/figcaption>\n<\/figure>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"KCNB1%E9%96%A2%E9%80%A3%E3%81%AE%E7%97%85%E6%B0%97%E3%81%A8%E3%81%84%E3%81%86%E5%BA%83%E3%81%8C%E3%82%8A\"><\/span><strong>KCNB1\u95a2\u9023\u306e\u75c5\u6c17\u3068\u3044\u3046\u5e83\u304c\u308a<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>KCNB1\u306e\u5909\u5316\u304c\u95a2\u308f\u308b\u72b6\u614b\u306f\u3001\u3053\u306e\u75c5\u6c17\u3060\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u3066\u3093\u304b\u3093\u767a\u4f5c\u304c\u76ee\u7acb\u3064\u30bf\u30a4\u30d7\u3082\u3042\u308c\u3070\u3001\u767a\u4f5c\u306f\u8efd\u304f\u767a\u9054\u306e\u9045\u308c\u304c\u4e2d\u5fc3\u306e\u30bf\u30a4\u30d7\u3082\u3042\u308a\u307e\u3059\u3002\u307e\u3068\u3081\u3066KCNB1\u95a2\u9023\u306e\u795e\u7d4c\u767a\u9054\u306e\u75c5\u6c17\u3068\u547c\u3070\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u540c\u3058\u907a\u4f1d\u5b50\u306e\u5909\u5316\u3067\u3082\u3001\u73fe\u308c\u65b9\u306f\u4e00\u4eba\u3072\u3068\u308a\u9055\u3044\u307e\u3059\u3002\u3060\u304b\u3089\u3053\u305d\u3001\u8a3a\u65ad\u540d\u3060\u3051\u3067\u898b\u901a\u3057\u3092\u6c7a\u3081\u3064\u3051\u306a\u3044\u3053\u3068\u304c\u652f\u3048\u306b\u306a\u308a\u307e\u3059\u3002\u4f3c\u305f\u80cc\u666f\u3092\u6301\u3064\u767a\u9054\u306e\u9045\u308c\u306b\u3064\u3044\u3066\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/intellectual-disability-risk-pregnancy\/\">\u598a\u5a20\u4e2d\u306e\u77e5\u7684\u969c\u5bb3\u306e\u30ea\u30b9\u30af\u3092\u6574\u7406\u3057\u305f\u8a18\u4e8b<\/a>\u3082\u3042\u308f\u305b\u3066\u8aad\u3093\u3067\u307f\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%B8%BB%E3%81%AA%E7%97%87%E7%8A%B6%EF%BD%9C%E4%B9%B3%E5%B9%BC%E5%85%90%E6%9C%9F%E3%81%AE%E7%99%BA%E4%BD%9C%E3%81%A8%E7%99%BA%E9%81%94%E3%81%AE%E9%81%85%E3%82%8C\"><\/span>\u4e3b\u306a\u75c7\u72b6\uff5c\u4e73\u5e7c\u5150\u671f\u306e\u767a\u4f5c\u3068\u767a\u9054\u306e\u9045\u308c<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u3053\u306e\u75c5\u6c17\u306e\u75c7\u72b6\u306f\u3001\u3066\u3093\u304b\u3093\u767a\u4f5c\u30fb\u767a\u9054\u306e\u9045\u308c\u30fb\u884c\u52d5\u9762\u306e\u7279\u5fb4\u3068\u3044\u3046\u4e09\u3064\u306b\u5927\u304d\u304f\u5206\u3051\u3089\u308c\u307e\u3059\u3002<\/strong>\u304a\u5b50\u3055\u3093\u3054\u3068\u306b\u51fa\u65b9\u306f\u3055\u307e\u3056\u307e\u3067\u3001\u3059\u3079\u3066\u304c\u305d\u308d\u3046\u3068\u306f\u9650\u308a\u307e\u305b\u3093\u3002\u3053\u3053\u3067\u306f\u3001\u3053\u308c\u307e\u3067\u306b\u5831\u544a\u3055\u308c\u3066\u304d\u305f\u4ee3\u8868\u7684\u306a\u7279\u5fb4\u3092\u9806\u306b\u898b\u3066\u3044\u304d\u307e\u3059\u3002\u3042\u304f\u307e\u3067\u4e00\u822c\u7684\u306a\u50be\u5411\u3068\u3057\u3066\u53d7\u3051\u6b62\u3081\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%A6%E3%82%93%E3%81%8B%E3%82%93%E7%99%BA%E4%BD%9C\"><\/span><strong>\u3066\u3093\u304b\u3093\u767a\u4f5c<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u591a\u304f\u306e\u5834\u5408\u3001\u751f\u5f8c6\u304b\u6708\u3054\u308d\u304b\u30892\u6b73\u3054\u308d\u307e\u3067\u306b\u6700\u521d\u306e\u767a\u4f5c\u304c\u59cb\u307e\u308a\u307e\u3059\u3002\u3082\u3063\u3068\u65e9\u3044\u3053\u3068\u3082\u3042\u308c\u3070\u3001\u5c11\u3057\u9045\u308c\u3066\u73fe\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u767a\u4f5c\u306e\u30bf\u30a4\u30d7\u306f\u591a\u5f69\u3067\u3001\u4e00\u4eba\u306e\u304a\u5b50\u3055\u3093\u304c\u8907\u6570\u306e\u7a2e\u985e\u3092\u4f75\u305b\u6301\u3064\u3053\u3068\u3082\u73cd\u3057\u304f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u5168\u8eab\u304c\u786c\u76f4\u3057\u3066\u304b\u3089\u9707\u3048\u308b\u5927\u304d\u306a\u767a\u4f5c\u3001\u6570\u79d2\u3060\u3051\u610f\u8b58\u304c\u9014\u5207\u308c\u308b\u767a\u4f5c\u3001\u624b\u8db3\u304c\u4e00\u77ac\u30d3\u30af\u30c3\u3068\u3059\u308b\u767a\u4f5c\u306a\u3069\u304c\u898b\u3089\u308c\u307e\u3059\u3002\u8996\u7dda\u304c\u504f\u308b\u3001\u4f53\u306e\u4e00\u90e8\u304c\u30d4\u30af\u30d4\u30af\u3059\u308b\u3068\u3044\u3063\u305f\u3001\u4f53\u306e\u4e00\u90e8\u304b\u3089\u59cb\u307e\u308b\u767a\u4f5c\u3082\u3042\u308a\u307e\u3059\u3002\u4e21\u624b\u3092\u5e83\u3052\u3066\u304a\u8f9e\u5100\u306e\u3088\u3046\u306a\u52d5\u304d\u3092\u304f\u308a\u8fd4\u3059\u30bf\u30a4\u30d7\u304c\u73fe\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u898b\u904e\u3054\u3055\u308c\u3084\u3059\u3044\u306e\u304c\u3001\u7761\u7720\u4e2d\u306e\u8133\u6ce2\u306e\u4e71\u308c\u3067\u3059\u3002\u76ee\u306b\u898b\u3048\u308b\u3051\u3044\u308c\u3093\u304c\u306a\u304f\u3066\u3082\u3001\u5bdd\u3066\u3044\u308b\u9593\u306b\u8133\u306e\u4e2d\u3067\u7570\u5e38\u306a\u96fb\u6c17\u6d3b\u52d5\u304c\u7d9a\u304f\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u306e\u72b6\u614b\u304c\u9577\u5f15\u304f\u3068\u3001\u8a00\u8449\u306e\u767a\u9054\u304c\u6b62\u307e\u3063\u305f\u308a\u3001\u3044\u3063\u305f\u3093\u3067\u304d\u305f\u3053\u3068\u304c\u3067\u304d\u306a\u304f\u306a\u308b\u9000\u884c\u304c\u8d77\u304d\u305f\u308a\u3057\u3084\u3059\u3044\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u767a\u4f5c\u304c\u85ac\u3067\u304a\u3055\u307e\u308a\u306b\u304f\u3044\u96e3\u6cbb\u306e\u30b1\u30fc\u30b9\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u8907\u6570\u306e\u85ac\u3092\u8abf\u6574\u3057\u3066\u767a\u4f5c\u3092\u6e1b\u3089\u305b\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%99%BA%E9%81%94%E3%81%A8%E9%81%8B%E5%8B%95%E3%81%AE%E9%81%85%E3%82%8C\"><\/span><strong>\u767a\u9054\u3068\u904b\u52d5\u306e\u9045\u308c<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u767a\u4f5c\u3068\u4e26\u3093\u3067\u76ee\u7acb\u3064\u306e\u304c\u3001\u767a\u9054\u306e\u3086\u3063\u304f\u308a\u3055\u3067\u3059\u3002\u3068\u304f\u306b\u8a00\u8449\u306e\u9762\u3067\u9045\u308c\u304c\u898b\u3089\u308c\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002\u805e\u3044\u3066\u7406\u89e3\u3059\u308b\u529b\u306f\u80b2\u3061\u3084\u3059\u3044\u4e00\u65b9\u3001\u81ea\u5206\u304b\u3089\u8a71\u3059\u529b\u304c\u4f38\u3073\u306b\u304f\u3044\u304a\u5b50\u3055\u3093\u304c\u591a\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u767a\u8a9e\u304c\u5c11\u306a\u304f\u3066\u3082\u3001\u7d75\u30ab\u30fc\u30c9\u3084\u8eab\u3076\u308a\u3092\u4f7f\u3063\u3066\u6c17\u6301\u3061\u3092\u4f1d\u3048\u3089\u308c\u308b\u5b50\u3082\u3044\u307e\u3059\u3002\u77e5\u7684\u306a\u767a\u9054\u306e\u9045\u308c\u306f\u8efd\u3044\u5834\u5408\u304b\u3089\u91cd\u3044\u5834\u5408\u307e\u3067\u5e45\u5e83\u304f\u3001\u65b0\u3057\u3044\u3053\u3068\u3092\u899a\u3048\u308b\u306e\u306b\u6642\u9593\u304c\u304b\u304b\u3063\u305f\u308a\u3001\u8907\u96d1\u306a\u6307\u793a\u306e\u7406\u89e3\u304c\u96e3\u3057\u304b\u3063\u305f\u308a\u3057\u307e\u3059\u3002\u9996\u3059\u308f\u308a\u30fb\u304a\u5ea7\u308a\u30fb\u6b69\u304d\u59cb\u3081\u3068\u3044\u3063\u305f\u904b\u52d5\u9762\u3082\u3001\u3086\u3063\u304f\u308a\u9032\u3080\u50be\u5411\u3002<\/p>\n\n\n\n<p>\u8d64\u3061\u3083\u3093\u306e\u3053\u308d\u306b\u3001\u4f53\u304c\u3084\u308f\u3089\u304b\u304f\u611f\u3058\u3089\u308c\u308b\u7b4b\u7dca\u5f35\u306e\u4f4e\u4e0b\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u62b1\u3044\u305f\u3068\u304d\u306b\u305a\u3063\u3057\u308a\u91cd\u304f\u611f\u3058\u305f\u308a\u3001\u95a2\u7bc0\u304c\u3084\u308f\u3089\u304b\u3059\u304e\u305f\u308a\u3059\u308b\u72b6\u614b\u3067\u3059\u3002\u591a\u304f\u306e\u304a\u5b50\u3055\u3093\u306f\u6210\u9577\u3068\u3068\u3082\u306b\u6b69\u3051\u308b\u3088\u3046\u306b\u306a\u308a\u307e\u3059\u304c\u3001\u5c11\u3057\u3075\u3089\u3064\u3044\u305f\u308a\u3001\u624b\u5148\u306e\u4e0d\u5668\u7528\u3055\u304c\u6b8b\u3063\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%A1%8C%E5%8B%95%E9%9D%A2%E3%81%AE%E7%89%B9%E5%BE%B4\"><\/span><strong>\u884c\u52d5\u9762\u306e\u7279\u5fb4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u884c\u52d5\u306e\u9762\u3067\u3082\u3001\u3044\u304f\u3064\u304b\u306e\u7279\u5fb4\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u8996\u7dda\u304c\u5408\u3044\u306b\u304f\u3044\u3001\u3053\u3060\u308f\u308a\u304c\u5f37\u3044\u3001\u540c\u3058\u52d5\u4f5c\u3092\u304f\u308a\u8fd4\u3059\u306a\u3069\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7<\/a>\u306b\u4f3c\u305f\u69d8\u5b50\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u4eba\u3068\u306e\u3084\u308a\u3068\u308a\u304c\u82e6\u624b\u306a\u304a\u5b50\u3055\u3093\u3082\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3058\u3063\u3068\u3057\u3066\u3044\u308b\u306e\u304c\u82e6\u624b\u3067\u52d5\u304d\u56de\u308b\u3001\u6c17\u306b\u306a\u3063\u305f\u3082\u306e\u306b\u3059\u3050\u624b\u304c\u51fa\u308b\u3068\u3044\u3063\u305f\u3001\u843d\u3061\u7740\u304d\u306b\u304f\u3055\u304c\u76ee\u7acb\u3064\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u5927\u304d\u306a\u97f3\u3084\u7279\u5b9a\u306e\u89e6\u308a\u5fc3\u5730\u3092\u5f37\u304f\u5acc\u304c\u308b\u611f\u899a\u306e\u904e\u654f\u3055\u3002\u81ea\u5206\u306e\u601d\u3044\u304c\u901a\u3089\u306a\u3044\u3068\u304d\u306b\u3001\u81ea\u5206\u3084\u5468\u308a\u3092\u53e9\u3044\u3066\u3057\u307e\u3046\u5b50\u3082\u3044\u307e\u3059\u3002\u3053\u308c\u306f\u8a00\u8449\u3067\u3046\u307e\u304f\u4f1d\u3048\u3089\u308c\u306a\u3044\u3082\u3069\u304b\u3057\u3055\u306e\u8868\u308c\u3067\u3042\u308b\u3053\u3068\u3082\u591a\u3044\u3068\u611f\u3058\u307e\u3059\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%8E%9F%E5%9B%A0%EF%BD%9CKCNB1%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%A8%E7%A5%9E%E7%B5%8C%E3%81%AE%E9%9B%BB%E6%B0%97%E4%BF%A1%E5%8F%B7\"><\/span>\u539f\u56e0\uff5cKCNB1\u907a\u4f1d\u5b50\u3068\u795e\u7d4c\u306e\u96fb\u6c17\u4fe1\u53f7<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u3053\u306e\u75c5\u6c17\u306e\u539f\u56e0\u306f\u3001\u8133\u306e\u795e\u7d4c\u7d30\u80de\u3067\u96fb\u6c17\u4fe1\u53f7\u306e\u30d6\u30ec\u30fc\u30ad\u5f79\u3092\u306b\u306a\u3046KCNB1\u907a\u4f1d\u5b50\u306b\u5909\u5316\u304c\u8d77\u304d\u308b\u3053\u3068\u306b\u3042\u308a\u307e\u3059\u3002<\/strong>\u89aa\u306e\u80b2\u3066\u65b9\u3084\u598a\u5a20\u4e2d\u306e\u751f\u6d3b\u304c\u62db\u304f\u3082\u306e\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u3053\u3053\u3067\u306f\u3001\u907a\u4f1d\u5b50\u306e\u50cd\u304d\u3068\u5909\u5316\u306e\u610f\u5473\u3001\u305d\u3057\u3066\u907a\u4f1d\u306e\u4ed5\u7d44\u307f\u3092\u9806\u306b\u304a\u8a71\u3057\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8133\u306e\u795e\u7d4c\u7d30\u80de\u306f\u3001\u96fb\u6c17\u4fe1\u53f7\u3092\u4f7f\u3063\u3066\u60c5\u5831\u3092\u3084\u308a\u3068\u308a\u3057\u3066\u3044\u307e\u3059\u3002\u4fe1\u53f7\u3092\u51fa\u3057\u305f\u308a\u6b62\u3081\u305f\u308a\u3059\u308b\u305f\u3081\u306b\u3001\u7d30\u80de\u306e\u5185\u3068\u5916\u3067\u30ca\u30c8\u30ea\u30a6\u30e0\u3084\u30ab\u30ea\u30a6\u30e0\u3068\u3044\u3063\u305f\u30a4\u30aa\u30f3\u304c\u51fa\u5165\u308a\u3057\u307e\u3059\u3002KCNB1\u304c\u4f5c\u308b\u306e\u306f\u3001\u30ab\u30ea\u30a6\u30e0\u3092\u901a\u3059\u5c0f\u3055\u306a\u901a\u308a\u9053\uff08\u30ab\u30ea\u30a6\u30e0\u30c1\u30e3\u30cd\u30eb\uff09\u3002\u8208\u596e\u3057\u305f\u795e\u7d4c\u7d30\u80de\u3092\u843d\u3061\u7740\u304b\u305b\u308b\u3001\u30d6\u30ec\u30fc\u30ad\u306e\u3088\u3046\u306a\u5f79\u5272\u3092\u306b\u306a\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u907a\u4f1d\u5b50\u306b\u5909\u5316\u304c\u8d77\u304d\u308b\u3068\u3001\u30ab\u30ea\u30a6\u30e0\u306e\u901a\u308a\u9053\u304c\u3046\u307e\u304f\u4f5c\u3089\u308c\u305a\u3001\u30d6\u30ec\u30fc\u30ad\u304c\u52b9\u304d\u306b\u304f\u304f\u306a\u308a\u307e\u3059\u3002\u795e\u7d4c\u304c\u904e\u5270\u306b\u8208\u596e\u3057\u3084\u3059\u304f\u306a\u308a\u3001\u3066\u3093\u304b\u3093\u767a\u4f5c\u304c\u8d77\u304d\u3084\u3059\u304f\u306a\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u3055\u3089\u306bKCNB1\u306f\u3001\u8133\u304c\u80b2\u3064\u6642\u671f\u306b\u795e\u7d4c\u7d30\u80de\u3092\u6b63\u3057\u3044\u5834\u6240\u3078\u5c0e\u304f\u50cd\u304d\u306b\u3082\u95a2\u308f\u308b\u305f\u3081\u3001\u767a\u9054\u306e\u9045\u308c\u306b\u3082\u3064\u306a\u304c\u308b\u3068\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%A4%9A%E3%81%8F%E3%81%AF%E6%96%B0%E3%81%9F%E3%81%AB%E7%94%9F%E3%81%98%E3%81%9F%E5%A4%89%E5%8C%96%EF%BC%88de_novo%EF%BC%89\"><\/span><strong>\u591a\u304f\u306f\u65b0\u305f\u306b\u751f\u3058\u305f\u5909\u5316\uff08de novo\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u591a\u304f\u306e\u3054\u5bb6\u65cf\u304c\u3001\u81ea\u5206\u304c\u907a\u4f1d\u3055\u305b\u305f\u306e\u3067\u306f\u306a\u3044\u304b\u3001\u598a\u5a20\u4e2d\u306e\u4f55\u304b\u304c\u60aa\u304b\u3063\u305f\u306e\u3067\u306f\u306a\u3044\u304b\u3068\u3001\u3054\u81ea\u8eab\u3092\u8cac\u3081\u3066\u3057\u307e\u3044\u307e\u3059\u3002\u3051\u308c\u3069\u3001\u75c7\u72b6\u306e\u91cd\u3044\u30bf\u30a4\u30d7\u306e\u307b\u3068\u3093\u3069\u306f\u3001\u65b0\u305f\u306b\u751f\u3058\u305f\u5909\u5316\uff08de novo\uff09\u306b\u3088\u3063\u3066\u8d77\u3053\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u308c\u306f\u3001\u4e21\u89aa\u306e\u907a\u4f1d\u5b50\u306b\u306f\u5909\u5316\u304c\u306a\u304f\u3001\u7cbe\u5b50\u3084\u5375\u5b50\u304c\u4f5c\u3089\u308c\u308b\u904e\u7a0b\u3001\u3042\u308b\u3044\u306f\u53d7\u7cbe\u306e\u3059\u3050\u3042\u3068\u306e\u7d30\u80de\u5206\u88c2\u306e\u6bb5\u968e\u3067\u3001\u5076\u7136\u306bKCNB1\u306b\u5909\u5316\u304c\u751f\u3058\u305f\u3053\u3068\u3092\u610f\u5473\u3057\u307e\u3059\u3002\u3064\u307e\u308a\u3001\u3069\u3061\u3089\u304b\u306e\u89aa\u306e\u305b\u3044\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u598a\u5a20\u4e2d\u306e\u98df\u4e8b\u30fb\u85ac\u30fb\u30b9\u30c8\u30ec\u30b9\u30fb\u74b0\u5883\u304c\u539f\u56e0\u306b\u306a\u308b\u3082\u306e\u3067\u3082\u306a\u3044\u306e\u3067\u3059\u3002\u8ab0\u306b\u3067\u3082\u8d77\u3053\u308a\u3046\u308b\u3001\u751f\u547d\u304c\u751f\u307e\u308c\u308b\u3068\u304d\u306e\u5076\u7136\u306e\u3067\u304d\u3054\u3068\u3002<\/p>\n\n\n\n<p>\u907a\u4f1d\u306e\u4ed5\u7d44\u307f\u3084\u518d\u767a\u306e\u53ef\u80fd\u6027\u306f\u3001\u3054\u5bb6\u65cf\u306b\u3088\u3063\u3066\u4e8b\u60c5\u304c\u7570\u306a\u308a\u307e\u3059\u3002\u6b63\u78ba\u306a\u898b\u901a\u3057\u306f\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u4e00\u4eba\u3072\u3068\u308a\u306e\u72b6\u6cc1\u306b\u5408\u308f\u305b\u3066\u78ba\u8a8d\u3057\u3066\u304f\u3060\u3055\u3044\u3002\u795e\u7d4c\u306e\u907a\u4f1d\u5b50\u304c\u95a2\u308f\u308b\u5225\u306e\u75c5\u6c17\u306e\u4f8b\u3068\u3057\u3066\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/neurofibromatosis-type1-guide\/\">\u795e\u7d4c\u7dda\u7dad\u816b\u75c71\u578b\u306b\u3064\u3044\u3066\u306e\u8a18\u4e8b<\/a>\u3082\u53c2\u8003\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%A8%BA%E6%96%AD%E3%81%A8%E6%A4%9C%E6%9F%BB%EF%BD%9C%E7%A2%BA%E5%AE%9A%E3%81%AB%E3%81%AF%E9%81%BA%E4%BC%9D%E5%AD%A6%E7%9A%84%E6%A4%9C%E6%9F%BB%E3%81%8C%E5%BF%85%E8%A6%81\"><\/span>\u8a3a\u65ad\u3068\u691c\u67fb\uff5c\u78ba\u5b9a\u306b\u306f\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u304c\u5fc5\u8981<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u8a3a\u65ad\u306f\u3001\u75c7\u72b6\u306e\u89b3\u5bdf\u306b\u52a0\u3048\u3066\u8133\u6ce2\u691c\u67fb\u30fb\u753b\u50cf\u691c\u67fb\u30fb\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u3092\u7d44\u307f\u5408\u308f\u305b\u3001\u6700\u7d42\u7684\u306bKCNB1\u306e\u5909\u5316\u3092\u78ba\u8a8d\u3057\u3066\u78ba\u5b9a\u3057\u307e\u3059\u3002<\/strong>\u75c7\u72b6\u3060\u3051\u3067\u306f\u3001\u307b\u304b\u306e\u767a\u9054\u306e\u75c5\u6c17\u3084\u3066\u3093\u304b\u3093\u3068\u898b\u5206\u3051\u304c\u3064\u304d\u306b\u304f\u3044\u305f\u3081\u3067\u3059\u3002\u3053\u3053\u3067\u306f\u3001\u305d\u308c\u305e\u308c\u306e\u691c\u67fb\u304c\u679c\u305f\u3059\u5f79\u5272\u3092\u6574\u7406\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8133\u6ce2\u691c\u67fb\u306f\u3001\u767a\u4f5c\u306e\u30bf\u30a4\u30d7\u3084\u8133\u306e\u6d3b\u52d5\u3092\u8abf\u3079\u308b\u6b20\u304b\u305b\u306a\u3044\u691c\u67fb\u3067\u3059\u3002\u3068\u304f\u306b\u7761\u7720\u4e2d\u306e\u8133\u6ce2\u3092\u78ba\u8a8d\u3057\u3001\u5bdd\u3066\u3044\u308b\u9593\u306e\u7570\u5e38\u306a\u653e\u96fb\u304c\u306a\u3044\u304b\u3092\u898b\u307e\u3059\u3002\u898b\u305f\u76ee\u306e\u767a\u4f5c\u304c\u306a\u304f\u3066\u3082\u767a\u9054\u304c\u6b62\u307e\u3063\u3066\u3044\u308b\u3068\u304d\u306f\u3001\u7761\u7720\u4e2d\u306e\u8133\u6ce2\u3092\u8a73\u3057\u304f\u8abf\u3079\u308b\u3053\u3068\u304c\u3059\u3059\u3081\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8133\u306e\u5f62\u3092\u8abf\u3079\u308b\u753b\u50cf\u691c\u67fb\u3067\u306f\u3001\u767a\u75c7\u306e\u521d\u671f\u306b\u660e\u3089\u304b\u306a\u7570\u5e38\u304c\u898b\u3089\u308c\u306a\u3044\u3053\u3068\u3082\u591a\u3044\u3067\u3059\u3002\u5e74\u9f62\u304c\u9032\u3080\u3068\u3001\u8133\u304c\u5c11\u3057\u7e2e\u3093\u3067\u898b\u3048\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u307b\u304b\u306e\u75c5\u6c17\u3068\u533a\u5225\u3059\u308b\u305f\u3081\u306b\u3082\u5f79\u7acb\u3064\u691c\u67fb\u3002\u305d\u3057\u3066\u78ba\u5b9a\u306b\u6b20\u304b\u305b\u306a\u3044\u306e\u304c\u3001\u8840\u6db2\u3092\u63a1\u3063\u3066DNA\u3092\u8abf\u3079\u308b\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u3067\u3059\u3002\u907a\u4f1d\u5b50\u3092\u5e83\u304f\u8aad\u307f\u89e3\u304f\u691c\u67fb\u3084\u3001\u3066\u3093\u304b\u3093\u306b\u95a2\u308f\u308b\u907a\u4f1d\u5b50\u3092\u307e\u3068\u3081\u3066\u8abf\u3079\u308b\u691c\u67fb\u3092\u884c\u3044\u3001KCNB1\u306e\u5909\u5316\u304c\u898b\u3064\u304b\u3063\u3066\u521d\u3081\u3066\u8a3a\u65ad\u304c\u3064\u304f\u30b1\u30fc\u30b9\u304c\u307b\u3068\u3093\u3069\u3067\u3059\u3002<\/p>\n\n\n\n<figure class=\"wp-block-image aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-content\/uploads\/2026\/01\/4974389_s.webp\" alt=\"\u8a3a\u65ad\u306e\u305f\u3081\u306b\u8133\u6ce2\u3084\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u3092\u53d7\u3051\u308b\u4e73\u5e7c\u5150\u3092\u3084\u3055\u3057\u304f\u898b\u5b88\u308b\u30a4\u30e1\u30fc\u30b8\" class=\"wp-image-123086\"\/><\/figure>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%B2%BB%E7%99%82%E3%81%A8%E7%AE%A1%E7%90%86%EF%BD%9C%E7%99%BA%E4%BD%9C%E3%81%AE%E3%82%B3%E3%83%B3%E3%83%88%E3%83%AD%E3%83%BC%E3%83%AB%E3%81%A8%E7%99%BA%E9%81%94%E6%94%AF%E6%8F%B4\"><\/span>\u6cbb\u7642\u3068\u7ba1\u7406\uff5c\u767a\u4f5c\u306e\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3068\u767a\u9054\u652f\u63f4<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u4eca\u306e\u533b\u5b66\u3067\u306f\u907a\u4f1d\u5b50\u306e\u5909\u5316\u305d\u306e\u3082\u306e\u3092\u6cbb\u3059\u65b9\u6cd5\u306f\u307e\u3060\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u767a\u4f5c\u3092\u6291\u3048\u308b\u6cbb\u7642\u3068\u767a\u9054\u3092\u652f\u3048\u308b\u7642\u80b2\u3067\u3001\u304a\u5b50\u3055\u3093\u306e\u751f\u6d3b\u306e\u8cea\u3092\u9ad8\u3081\u308b\u3053\u3068\u306f\u5341\u5206\u306b\u3067\u304d\u307e\u3059\u3002<\/strong>\u75c7\u72b6\u306b\u5408\u308f\u305b\u305f\u5bfe\u5fdc\u3068\u3001\u3054\u5bb6\u65cf\u3078\u306e\u652f\u63f4\u304c\u4e21\u8f2a\u306b\u306a\u308a\u307e\u3059\u3002\u3053\u3053\u3067\u306f\u6cbb\u7642\u3068\u7ba1\u7406\u306e\u67f1\u3092\u7d39\u4ecb\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3066\u3093\u304b\u3093\u306b\u5bfe\u3057\u3066\u306f\u3001\u767a\u4f5c\u306e\u30bf\u30a4\u30d7\u306b\u5408\u308f\u305b\u3066\u6297\u3066\u3093\u304b\u3093\u85ac\u3092\u9078\u3073\u307e\u3059\u3002\u7279\u52b9\u85ac\u306f\u307e\u3060\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u304c\u3001\u8907\u6570\u306e\u85ac\u3092\u7d44\u307f\u5408\u308f\u305b\u3066\u767a\u4f5c\u3092\u6e1b\u3089\u3059\u3053\u3068\u3092\u76ee\u6307\u3057\u307e\u3059\u3002\u7761\u7720\u4e2d\u306e\u8133\u6ce2\u306e\u4e71\u308c\u304c\u5f37\u3044\u3068\u304d\u306f\u3001\u305d\u308c\u306b\u5408\u308f\u305b\u305f\u85ac\u304c\u691c\u8a0e\u3055\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u85ac\u3067\u304a\u3055\u307e\u308a\u306b\u304f\u3044\u3068\u304d\u306f\u3001\u98df\u4e8b\u306e\u5185\u5bb9\u3092\u5de5\u592b\u3059\u308b\u98df\u4e8b\u7642\u6cd5\u304c\u9078\u629e\u80a2\u306b\u5165\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u767a\u9054\u3092\u652f\u3048\u308b\u7642\u80b2\u306f\u3001\u3067\u304d\u308b\u3060\u3051\u65e9\u3044\u6642\u671f\u304b\u3089\u59cb\u3081\u308b\u3068\u529b\u3092\u767a\u63ee\u3057\u307e\u3059\u3002\u8a00\u8449\u306e\u8a13\u7df4\u3067\u306f\u3001\u7d75\u30ab\u30fc\u30c9\u3084\u30bf\u30d6\u30ec\u30c3\u30c8\u306a\u3069\u8a71\u3057\u8a00\u8449\u306e\u4ee3\u308f\u308a\u306b\u306a\u308b\u624b\u6bb5\u3082\u6d3b\u7528\u3057\u307e\u3059\u3002\u6c17\u6301\u3061\u304c\u4f1d\u308f\u308b\u3068\u3001\u304b\u3093\u3057\u3083\u304f\u3084\u884c\u52d5\u9762\u306e\u56f0\u308a\u3054\u3068\u304c\u6e1b\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u624b\u5148\u306e\u7df4\u7fd2\u3084\u30d0\u30e9\u30f3\u30b9\u611f\u899a\u3092\u990a\u3046\u904b\u52d5\u3001\u611f\u899a\u306e\u904e\u654f\u3055\u3078\u306e\u5de5\u592b\u3082\u3001\u65e5\u3005\u306e\u66ae\u3089\u3057\u3092\u697d\u306b\u3057\u3066\u304f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u767a\u4f5c\u306b\u3088\u308b\u3051\u304c\u3092\u9632\u3050\u5b89\u5168\u5bfe\u7b56\u3082\u6b20\u304b\u305b\u307e\u305b\u3093\u3002\u5bb6\u5177\u306e\u89d2\u3092\u4fdd\u8b77\u3059\u308b\u3001\u5165\u6d74\u4e2d\u306f\u76ee\u3092\u96e2\u3055\u306a\u3044\u3001\u767a\u4f5c\u304c\u8d77\u304d\u305f\u3068\u304d\u306e\u5bfe\u5fdc\u3092\u3042\u3089\u304b\u3058\u3081\u4e3b\u6cbb\u533b\u3068\u6c7a\u3081\u3066\u304a\u304f\u3002\u3053\u3046\u3057\u305f\u5099\u3048\u304c\u3001\u5bb6\u65cf\u306e\u5b89\u5fc3\u306b\u3064\u306a\u304c\u308a\u307e\u3059\u3002\u4fe1\u983c\u3067\u304d\u308b\u60c5\u5831\u6e90\u3068\u3057\u3066\u3001<a href=\"https:\/\/www.nanbyou.or.jp\/\" target=\"_blank\" rel=\"noopener\">\u96e3\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/a>\u3084\u3001\u767a\u9054\u306e\u652f\u63f4\u306b\u95a2\u3059\u308b<a href=\"https:\/\/www.rehab.go.jp\/ddis\/\" target=\"_blank\" rel=\"noopener\">\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<\/a>\u3082\u78ba\u8a8d\u3057\u3066\u307f\u3066\u304f\u3060\u3055\u3044\u3002\u516c\u7684\u306a\u76f8\u8ac7\u5148\u3084\u652f\u63f4\u5236\u5ea6\u306f<a href=\"https:\/\/www.cfa.go.jp\/policies\/shougaijishien\/\" target=\"_blank\" rel=\"noopener\">\u3053\u3069\u3082\u5bb6\u5ead\u5e81\u306e\u969c\u5bb3\u5150\u652f\u63f4\u306e\u6848\u5185<\/a>\u306b\u307e\u3068\u307e\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"text-align:center;margin:2em 0;\"><a href=\"https:\/\/mypage-nipt-reservation.hiro-clinic.or.jp\/registration\" target=\"_blank\" rel=\"noopener\" style=\"display:inline-block;padding:0.8em 2em;background:#e8608a;color:#fff;border-radius:30px;text-decoration:none;font-weight:bold;\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30afNIPT\u306e\u4e88\u7d04\u306f\u3053\u3061\u3089<\/a><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"NIPT%E3%81%A7%E5%88%86%E3%81%8B%E3%82%8B%E3%81%93%E3%81%A8%E3%83%BB%E5%88%86%E3%81%8B%E3%82%89%E3%81%AA%E3%81%84%E3%81%93%E3%81%A8\"><\/span>NIPT\u3067\u5206\u304b\u308b\u3053\u3068\u30fb\u5206\u304b\u3089\u306a\u3044\u3053\u3068<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u598a\u5a66\u3055\u3093\u304c\u53d7\u3051\u308bNIPT\u306f\u4e3b\u306b21\u30fb18\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/patau-syndrome\/\">13\u30c8\u30ea\u30bd\u30df\u30fc<\/a>\u306a\u3069\u7279\u5b9a\u306e\u67d3\u8272\u4f53\u3092\u8abf\u3079\u308b\u975e\u78ba\u5b9a\u7684\u306a\u691c\u67fb\u3067\u3001KCNB1\u306e\u3088\u3046\u306a\u5358\u4e00\u306e\u907a\u4f1d\u5b50\u304c\u95a2\u308f\u308b\u3053\u306e\u75c5\u6c17\u306f\u4e00\u822c\u7684\u306a\u5bfe\u8c61\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/strong>\u691c\u67fb\u3067\u5206\u304b\u308b\u7bc4\u56f2\u306b\u306f\u9650\u308a\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u3053\u3067\u306f\u3001\u305d\u306e\u7dda\u5f15\u304d\u3068\u5411\u304d\u5408\u3044\u65b9\u3092\u6574\u7406\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<figure class=\"wp-block-image aligncenter\" style=\"margin:1.5rem auto;\">\n<svg role=\"img\" aria-label=\"\u4e00\u822c\u7684\u306aNIPT\u304c\u8abf\u3079\u308b\u7bc4\u56f2\u3068\u3053\u306e\u75c5\u6c17\u306e\u4f4d\u7f6e\u3065\u3051\u3092\u793a\u3057\u305f\u56f3\u3002\u67d3\u8272\u4f53\u306e\u6570\u306e\u5909\u5316\u306f\u5bfe\u8c61\u3001\u5358\u4e00\u306e\u907a\u4f1d\u5b50\u306e\u5909\u5316\u306f\u4e00\u822c\u7684\u306a\u5bfe\u8c61\u5916\" viewBox=\"0 0 720 280\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" style=\"max-width:720px;width:100%;height:auto;font-family:sans-serif;\">\n  <rect x=\"0\" y=\"0\" width=\"720\" height=\"280\" fill=\"#fff9fb\"\/>\n  <text x=\"360\" y=\"40\" text-anchor=\"middle\" font-size=\"20\" fill=\"#5a2b3a\">\u691c\u67fb\u3067\u8abf\u3079\u308b\u7bc4\u56f2\u306e\u30a4\u30e1\u30fc\u30b8<\/text>\n  <rect x=\"40\" y=\"70\" width=\"300\" height=\"160\" rx=\"12\" fill=\"#fbe1eb\"\/>\n  <text x=\"190\" y=\"105\" text-anchor=\"middle\" font-size=\"17\" fill=\"#5a2b3a\">\u4e00\u822c\u7684\u306aNIPT\u306e\u5bfe\u8c61<\/text>\n  <text x=\"190\" y=\"140\" text-anchor=\"middle\" font-size=\"15\" fill=\"#5a2b3a\">\u67d3\u8272\u4f53\u306e\u6570\u306e\u5909\u5316<\/text>\n  <text x=\"190\" y=\"168\" text-anchor=\"middle\" font-size=\"15\" fill=\"#5a2b3a\">21\u30fb18\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/patau-syndrome\/\">13\u30c8\u30ea\u30bd\u30df\u30fc<\/a><\/text>\n  <text x=\"190\" y=\"196\" text-anchor=\"middle\" font-size=\"14\" fill=\"#5a2b3a\">\u306a\u3069\uff08\u975e\u78ba\u5b9a\u7684\u306a\u691c\u67fb\uff09<\/text>\n  <rect x=\"380\" y=\"70\" width=\"300\" height=\"160\" rx=\"12\" fill=\"#f6b8cd\"\/>\n  <text x=\"530\" y=\"105\" text-anchor=\"middle\" font-size=\"17\" fill=\"#5a2b3a\">\u4e00\u822c\u7684\u306a\u5bfe\u8c61\u5916<\/text>\n  <text x=\"530\" y=\"140\" text-anchor=\"middle\" font-size=\"15\" fill=\"#5a2b3a\">\u5358\u4e00\u306e\u907a\u4f1d\u5b50\u306e\u5909\u5316<\/text>\n  <text x=\"530\" y=\"168\" text-anchor=\"middle\" font-size=\"15\" fill=\"#5a2b3a\">KCNB1\u306e\u5909\u5316<\/text>\n  <text x=\"530\" y=\"196\" text-anchor=\"middle\" font-size=\"14\" fill=\"#5a2b3a\">\u3053\u306e\u75c5\u6c17\u306f\u3053\u3053\u306b\u542b\u307e\u308c\u308b<\/text>\n  <text x=\"360\" y=\"262\" text-anchor=\"middle\" font-size=\"14\" fill=\"#9a6070\">\u78ba\u5b9a\u8a3a\u65ad\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u306a\u3069\u3002\u8a73\u3057\u3044\u5bfe\u8c61\u306f\u533b\u5e2b\u306b\u78ba\u8a8d\u3057\u3066\u304f\u3060\u3055\u3044<\/text>\n<\/svg>\n<figcaption>\u4e00\u822c\u7684\u306aNIPT\u304c\u8abf\u3079\u308b\u7bc4\u56f2\u3068\u3001\u3053\u306e\u75c5\u6c17\u306e\u4f4d\u7f6e\u3065\u3051\u306e\u30a4\u30e1\u30fc\u30b8<\/figcaption>\n<\/figure>\n\n\n\n<p>NIPT\u306f\u3001\u304a\u6bcd\u3055\u3093\u306e\u8840\u6db2\u306b\u542b\u307e\u308c\u308b\u8d64\u3061\u3083\u3093\u7531\u6765\u306eDNA\u306e\u65ad\u7247\u3092\u8abf\u3079\u3001\u7279\u5b9a\u306e\u67d3\u8272\u4f53\u306e\u6570\u306e\u5909\u5316\u304c\u306a\u3044\u304b\u3092\u898b\u308b\u691c\u67fb\u3067\u3059\u3002\u3042\u304f\u307e\u3067\u53ef\u80fd\u6027\u3092\u793a\u3059\u975e\u78ba\u5b9a\u7684\u306a\u691c\u67fb\u3067\u3001\u78ba\u5b9a\u306b\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u306a\u3069\u304c\u5fc5\u8981\u306b\u306a\u308a\u307e\u3059\u3002KCNB1\u306e\u3088\u3046\u306a\u4e00\u3064\u306e\u907a\u4f1d\u5b50\u306e\u5c0f\u3055\u306a\u5909\u5316\u306f\u3001\u4e00\u822c\u7684\u306aNIPT\u306e\u5bfe\u8c61\u306b\u306f\u542b\u307e\u308c\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u691c\u67fb\u3092\u53d7\u3051\u308b\u304b\u3069\u3046\u304b\u3001\u8ff7\u3046\u6c17\u6301\u3061\u306f\u81ea\u7136\u306a\u3082\u306e\u3067\u3059\u3002\u79c1\u3082\u5916\u6765\u3067\u3001\u540c\u3058\u3088\u3046\u306b\u60a9\u3080\u58f0\u3092\u305f\u304f\u3055\u3093\u805e\u3044\u3066\u304d\u307e\u3057\u305f\u300210\u9031\u3067\u53d7\u3051\u308b\u304b\u3069\u3046\u304b\u3092\u592b\u5a66\u3067\u76f8\u8ac7\u4e2d\u3068\u3044\u3046<a href=\"https:\/\/x.com\/koinuvhan\" target=\"_blank\" rel=\"noopener\">@koinuvhan<\/a>\u3055\u3093\u3082\u3001\u5e74\u9f62\u7684\u306b\u78ba\u7387\u304c\u6c17\u306b\u306a\u308a\u3001\u5468\u308a\u306b\u53d7\u3051\u3066\u3044\u308b\u4eba\u3082\u304a\u3089\u305a\u3001\u8cbb\u7528\u306e\u9ad8\u3055\u3082\u3042\u3063\u3066\u60a9\u3080\u3001\u3068\u7387\u76f4\u306b\u3064\u3065\u3063\u3066\u3044\u307e\u3057\u305f\u3002\u8ff7\u3044\u306a\u304c\u3089\u6c7a\u3081\u3066\u3044\u304f\u306e\u306f\u3001\u3054\u304f\u5f53\u305f\u308a\u524d\u306e\u3053\u3068\u3060\u3068\u611f\u3058\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3082\u3046\u4e00\u3064\u77e5\u3063\u3066\u304a\u3044\u3066\u307b\u3057\u3044\u306e\u304c\u3001\u3069\u3093\u306a\u691c\u67fb\u306b\u3082\u5206\u304b\u308b\u7bc4\u56f2\u306e\u9650\u308a\u304c\u3042\u308b\u3068\u3044\u3046\u70b9\u3067\u3059\u3002\u3059\u3079\u3066\u306e\u75c5\u6c17\u3092\u4e00\u5ea6\u306b\u8abf\u3079\u3089\u308c\u308b\u691c\u67fb\u306f\u5b58\u5728\u3057\u307e\u305b\u3093\u30022\u4eba\u76ee\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u3092\u3069\u3046\u3059\u308b\u304b\u8003\u3048\u308b<a href=\"https:\/\/x.com\/mi0813rt3\" target=\"_blank\" rel=\"noopener\">@mi0813rt3<\/a>\u3055\u3093\u3082\u3001\u3059\u3079\u3066\u306e\u969c\u5bb3\u304c\u5206\u304b\u308b\u308f\u3051\u3067\u306f\u306a\u3044\u3068\u7406\u89e3\u3057\u3064\u3064\u3001\u4e0d\u5b89\u306e\u53ef\u80fd\u6027\u306f\u5c11\u3057\u3067\u3082\u6e1b\u3089\u3057\u305f\u3044\u3001\u3067\u3082\u9ad8\u984d\u3067\u60a9\u3080\u3001\u3068\u66f8\u3044\u3066\u3044\u307e\u3057\u305f\u3002\u5206\u304b\u308b\u3053\u3068\u30fb\u5206\u304b\u3089\u306a\u3044\u3053\u3068\u3092\u6574\u7406\u3057\u3066\u304b\u3089\u9078\u3076\u59ff\u52e2\u304c\u3001\u5f8c\u6094\u306e\u5c11\u306a\u3044\u6c7a\u65ad\u306b\u3064\u306a\u304c\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>NIPT\u306e\u7d50\u679c\u306e\u8aad\u307f\u65b9\u3084\u3001\u305d\u306e\u5f8c\u306e\u6d41\u308c\u3092\u77e5\u308a\u305f\u3044\u3068\u304d\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-inspection-results\/\">NIPT\u306e\u691c\u67fb\u7d50\u679c\u306e\u898b\u65b9\u3092\u307e\u3068\u3081\u305f\u8a18\u4e8b<\/a>\u3084\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/down-syndrome-pregnancy-risk-test\/\">\u30c0\u30a6\u30f3\u75c7\u3068NIPT\u306e\u95a2\u4fc2\u3092\u89e3\u8aac\u3057\u305f\u8a18\u4e8b<\/a>\u3082\u5f79\u7acb\u3061\u307e\u3059\u3002\u4e0d\u5b89\u306a\u3053\u3068\u306f\u4e00\u4eba\u3067\u62b1\u3048\u305a\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u76f8\u8ac7\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<div style=\"text-align:center;margin:2em 0;\"><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/line-registration\/\" target=\"_blank\" rel=\"noopener\" style=\"display:inline-block;padding:0.8em 2em;background:#e8608a;color:#fff;border-radius:30px;text-decoration:none;font-weight:bold;\">\u598a\u5a20\u4e2d\u306e\u4e0d\u5b89\u3092LINE\u3067\u7121\u6599\u76f8\u8ac7\u3059\u308b<\/a><\/div>\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>\u3088\u304f\u3042\u308b\u8cea\u554f<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_%E7%99%BA%E9%81%94%E6%80%A7%E3%81%A6%E3%82%93%E3%81%8B%E3%82%93%E6%80%A7%E8%84%B3%E7%97%8726%E5%9E%8B%E3%81%AF%E9%81%BA%E4%BC%9D%E3%81%97%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span><strong>Q. \u767a\u9054\u6027\u3066\u3093\u304b\u3093\u6027\u8133\u75c726\u578b\u306f\u907a\u4f1d\u3057\u307e\u3059\u304b\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u75c7\u72b6\u306e\u91cd\u3044\u30bf\u30a4\u30d7\u306e\u591a\u304f\u306f\u3001\u4e21\u89aa\u304b\u3089\u53d7\u3051\u7d99\u3044\u3060\u3082\u306e\u3067\u306f\u306a\u304f\u3001\u65b0\u305f\u306b\u751f\u3058\u305f\u5909\u5316\uff08de novo\uff09\u3067\u8d77\u3053\u308a\u307e\u3059\u3002\u4e21\u89aa\u306e\u907a\u4f1d\u5b50\u306b\u306f\u5909\u5316\u304c\u306a\u304f\u3001\u7cbe\u5b50\u3084\u5375\u5b50\u304c\u3067\u304d\u308b\u904e\u7a0b\u3084\u53d7\u7cbe\u76f4\u5f8c\u306e\u5076\u7136\u306b\u3088\u3063\u3066\u751f\u3058\u305f\u3082\u306e\u3067\u3059\u3002\u3054\u81ea\u8eab\u306e\u80b2\u3066\u65b9\u3084\u598a\u5a20\u4e2d\u306e\u751f\u6d3b\u304c\u539f\u56e0\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u518d\u767a\u306e\u53ef\u80fd\u6027\u306f\u3054\u5bb6\u65cf\u3054\u3068\u306b\u7570\u306a\u308b\u305f\u3081\u3001\u6b63\u78ba\u306a\u898b\u901a\u3057\u306f\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u78ba\u8a8d\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_NIPT%E3%81%A7%E3%81%93%E3%81%AE%E7%97%85%E6%B0%97%E3%81%AF%E5%88%86%E3%81%8B%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span><strong>Q. NIPT\u3067\u3053\u306e\u75c5\u6c17\u306f\u5206\u304b\u308a\u307e\u3059\u304b\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u4e00\u822c\u7684\u306aNIPT\u306f\u3001\u4e3b\u306b21\u30fb18\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/patau-syndrome\/\">13\u30c8\u30ea\u30bd\u30df\u30fc<\/a>\u306a\u3069\u7279\u5b9a\u306e\u67d3\u8272\u4f53\u306e\u6570\u306e\u5909\u5316\u3092\u8abf\u3079\u308b\u975e\u78ba\u5b9a\u7684\u306a\u691c\u67fb\u3067\u3059\u3002KCNB1\u306e\u3088\u3046\u306a\u4e00\u3064\u306e\u907a\u4f1d\u5b50\u304c\u95a2\u308f\u308b\u3053\u306e\u75c5\u6c17\u306f\u3001\u4e00\u822c\u7684\u306aNIPT\u306e\u5bfe\u8c61\u306b\u306f\u542b\u307e\u308c\u307e\u305b\u3093\u3002\u78ba\u5b9a\u8a3a\u65ad\u306b\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u306a\u3069\u304c\u5fc5\u8981\u3067\u3059\u3002\u691c\u67fb\u3067\u5206\u304b\u308b\u7bc4\u56f2\u306b\u306f\u9650\u308a\u304c\u3042\u308b\u305f\u3081\u3001\u4f55\u3092\u8abf\u3079\u305f\u3044\u306e\u304b\u3092\u533b\u5e2b\u3084\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u6574\u7406\u3057\u3066\u304b\u3089\u53d7\u3051\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_%E7%99%BA%E4%BD%9C%E3%81%AF%E8%96%AC%E3%81%A7%E3%81%8A%E3%81%95%E3%81%BE%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span><strong>Q. \u767a\u4f5c\u306f\u85ac\u3067\u304a\u3055\u307e\u308a\u307e\u3059\u304b\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u767a\u4f5c\u306e\u30bf\u30a4\u30d7\u306b\u3088\u3063\u3066\u306f\u3001\u85ac\u3067\u304a\u3055\u307e\u308a\u306b\u304f\u3044\u96e3\u6cbb\u306e\u30b1\u30fc\u30b9\u304c\u3042\u308a\u307e\u3059\u3002\u305f\u3060\u3001\u8907\u6570\u306e\u85ac\u3092\u7d44\u307f\u5408\u308f\u305b\u3066\u8abf\u6574\u3059\u308b\u3053\u3068\u3067\u3001\u65e5\u5e38\u751f\u6d3b\u306b\u652f\u969c\u304c\u51fa\u306b\u304f\u3044\u7a0b\u5ea6\u307e\u3067\u767a\u4f5c\u3092\u6e1b\u3089\u305b\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u7761\u7720\u4e2d\u306e\u8133\u6ce2\u306e\u4e71\u308c\u304c\u5f37\u3044\u3068\u304d\u306f\u3001\u305d\u308c\u306b\u5408\u308f\u305b\u305f\u6cbb\u7642\u304c\u691c\u8a0e\u3055\u308c\u307e\u3059\u3002\u85ac\u3067\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u304c\u96e3\u3057\u3044\u3068\u304d\u306f\u98df\u4e8b\u7642\u6cd5\u304c\u9078\u629e\u80a2\u306b\u306a\u308b\u3053\u3068\u3082\u3042\u308b\u305f\u3081\u3001\u4e3b\u6cbb\u533b\u3068\u76f8\u8ac7\u3092\u7d9a\u3051\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_26%E5%9E%8B%E3%81%AE%E3%80%8C26%E3%80%8D%E3%81%AF%E9%87%8D%E7%97%87%E5%BA%A6%E3%82%92%E8%A1%A8%E3%81%97%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span><strong>Q. 26\u578b\u306e\u300c26\u300d\u306f\u91cd\u75c7\u5ea6\u3092\u8868\u3057\u307e\u3059\u304b\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3053\u306e\u6570\u5b57\u306f\u91cd\u75c7\u5ea6\u3067\u306f\u306a\u304f\u3001\u767a\u898b\u3055\u308c\u305f\u9806\u756a\u3084\u907a\u4f1d\u5b50\u306e\u7a2e\u985e\u3092\u533a\u5225\u3059\u308b\u305f\u3081\u306e\u756a\u53f7\u3067\u3059\u3002\u6570\u304c\u5927\u304d\u3044\u307b\u3069\u91cd\u3044\u3068\u3044\u3046\u610f\u5473\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u540c\u3058KCNB1\u306e\u5909\u5316\u3067\u3082\u3001\u75c7\u72b6\u306e\u91cd\u3055\u3084\u73fe\u308c\u65b9\u306f\u4e00\u4eba\u3072\u3068\u308a\u5927\u304d\u304f\u7570\u306a\u308a\u307e\u3059\u3002\u8a3a\u65ad\u540d\u306e\u6570\u5b57\u306b\u4e0d\u5b89\u3092\u611f\u3058\u3059\u304e\u305a\u3001\u304a\u5b50\u3055\u3093\u306e\u5b9f\u969b\u306e\u69d8\u5b50\u306b\u5408\u308f\u305b\u305f\u30b1\u30a2\u3092\u4e3b\u6cbb\u533b\u3068\u8003\u3048\u3066\u3044\u3063\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_%E6%97%A9%E6%9C%9F%E3%81%AE%E7%99%82%E8%82%B2%E3%81%AB%E3%81%AF%E3%81%A9%E3%82%93%E3%81%AA%E6%84%8F%E5%91%B3%E3%81%8C%E3%81%82%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span><strong>Q. \u65e9\u671f\u306e\u7642\u80b2\u306b\u306f\u3069\u3093\u306a\u610f\u5473\u304c\u3042\u308a\u307e\u3059\u304b\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3067\u304d\u308b\u3060\u3051\u65e9\u3044\u6642\u671f\u304b\u3089\u8a00\u8449\u3084\u904b\u52d5\u3001\u751f\u6d3b\u52d5\u4f5c\u3092\u652f\u3048\u308b\u7642\u80b2\u3092\u59cb\u3081\u308b\u3068\u3001\u304a\u5b50\u3055\u3093\u306e\u6301\u3064\u529b\u3092\u5f15\u304d\u51fa\u3057\u3084\u3059\u304f\u306a\u308a\u307e\u3059\u3002\u8a71\u3057\u8a00\u8449\u304c\u96e3\u3057\u304f\u3066\u3082\u3001\u7d75\u30ab\u30fc\u30c9\u3084\u30bf\u30d6\u30ec\u30c3\u30c8\u306a\u3069\u306e\u624b\u6bb5\u3067\u6c17\u6301\u3061\u3092\u4f1d\u3048\u3089\u308c\u308b\u3088\u3046\u306b\u306a\u308b\u3068\u3001\u304b\u3093\u3057\u3083\u304f\u304c\u6e1b\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u5730\u57df\u306e\u652f\u63f4\u5236\u5ea6\u306f\u3001\u3053\u3069\u3082\u5bb6\u5ead\u5e81\u3084\u767a\u9054\u969c\u5bb3\u306e\u60c5\u5831\u30bb\u30f3\u30bf\u30fc\u306e\u6848\u5185\u3067\u78ba\u8a8d\u3067\u304d\u307e\u3059\u3002\u307e\u305a\u306f\u4e3b\u6cbb\u533b\u3084\u5730\u57df\u306e\u76f8\u8ac7\u7a93\u53e3\u3078\u3064\u306a\u3044\u3067\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_%E5%87%BA%E7%94%9F%E5%89%8D%E3%81%AB%E6%A4%9C%E6%9F%BB%E3%82%92%E5%8F%97%E3%81%91%E3%82%8B%E3%81%8B%E8%BF%B7%E3%81%A3%E3%81%A6%E3%81%84%E3%81%BE%E3%81%99%E3%80%82%E3%81%A9%E3%81%86%E8%80%83%E3%81%88%E3%82%8C%E3%81%B0%E3%82%88%E3%81%84%E3%81%A7%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span><strong>Q. \u51fa\u751f\u524d\u306b\u691c\u67fb\u3092\u53d7\u3051\u308b\u304b\u8ff7\u3063\u3066\u3044\u307e\u3059\u3002\u3069\u3046\u8003\u3048\u308c\u3070\u3088\u3044\u3067\u3059\u304b\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8ff7\u3046\u6c17\u6301\u3061\u306f\u3001\u3068\u3066\u3082\u81ea\u7136\u306a\u3082\u306e\u3067\u3059\u3002\u307e\u305a\u3001\u305d\u306e\u691c\u67fb\u3067\u4f55\u304c\u5206\u304b\u308a\u3001\u4f55\u304c\u5206\u304b\u3089\u306a\u3044\u306e\u304b\u3092\u6574\u7406\u3057\u3066\u304f\u3060\u3055\u3044\u3002\u3059\u3079\u3066\u306e\u75c5\u6c17\u3092\u4e00\u5ea6\u306b\u8abf\u3079\u3089\u308c\u308b\u691c\u67fb\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u8cbb\u7528\u3084\u7d50\u679c\u304c\u51fa\u305f\u3042\u3068\u306e\u9078\u629e\u3082\u542b\u3081\u3066\u3001\u3054\u592b\u5a66\u3067\u8a71\u3057\u5408\u3044\u3001\u5fc5\u8981\u306a\u3089\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u5c02\u9580\u5bb6\u306b\u76f8\u8ac7\u3059\u308b\u3068\u3001\u7d0d\u5f97\u306e\u3044\u304f\u6c7a\u65ad\u306b\u3064\u306a\u304c\u308a\u307e\u3059\u3002\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30afNIPT\u3067\u306f\u3001LINE\u3067\u306e\u7121\u6599\u76f8\u8ac7\u3082\u53d7\u3051\u4ed8\u3051\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"border:1px solid #f0d0dc;border-radius:12px;padding:1.2em 1.4em;margin:2.5rem 0 1rem;background:#fffafc;\">\n<p style=\"margin:0 0 0.4em;font-weight:bold;\">\u8457\u8005\u30fb\u76e3\u4fee<\/p>\n<p style=\"margin:0;\">\u5ca1 \u535a\u53f2\uff08\u304a\u304b \u3072\u308d\u3057\uff09\uff0f\u533b\u7642\u6cd5\u4eba\u793e\u56e3\u798f\u7f8e\u4f1a \u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u7d71\u62ec\u9662\u9577\u30fbLabo Director\uff08\u30e9\u30dc\u30c7\u30a3\u30ec\u30af\u30bf\u30fc\uff09\u3002\u6176\u61c9\u7fa9\u587e\u5927\u5b66\u533b\u5b66\u90e8\u5352\u696d\u5f8c\u3001\u65e5\u672c\u3068\u7c73\u56fd\u306e\u533b\u5e2b\u56fd\u5bb6\u8a66\u9a13\u306b\u5408\u683c\u3057\u3001\u533b\u5b66\u535a\u58eb\u3092\u53d6\u5f97\u3002\u65e5\u672c\u306b\u7d0420\u4eba\u3057\u304b\u3044\u306a\u3044\u30e9\u30dc\u30c7\u30a3\u30ec\u30af\u30bf\u30fc\u8cc7\u683c\u3092\u4fdd\u6709\u3002YouTube\u300c\u3072\u308d\u3057\u5148\u751f\u306e\u6b63\u3057\u3044\u30a8\u30d3\u30c7\u30f3\u30b9\u598a\u5a20ch\u300d\u306a\u3069\u3067\u3001\u30a8\u30d3\u30c7\u30f3\u30b9\u306b\u3082\u3068\u3065\u304f\u598a\u5a20\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u306e\u60c5\u5831\u3092\u767a\u4fe1\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n<\/div>\n\n\n\n<script type=\"application\/ld+json\">\n{\n  \"@context\": \"https:\/\/schema.org\",\n  \"@type\": \"FAQPage\",\n  \"mainEntity\": [\n    {\"@type\":\"Question\",\"name\":\"\u767a\u9054\u6027\u3066\u3093\u304b\u3093\u6027\u8133\u75c726\u578b\u306f\u907a\u4f1d\u3057\u307e\u3059\u304b\uff1f\",\"acceptedAnswer\":{\"@type\":\"Answer\",\"text\":\"\u75c7\u72b6\u306e\u91cd\u3044\u30bf\u30a4\u30d7\u306e\u591a\u304f\u306f\u3001\u4e21\u89aa\u304b\u3089\u53d7\u3051\u7d99\u3044\u3060\u3082\u306e\u3067\u306f\u306a\u304f\u3001\u65b0\u305f\u306b\u751f\u3058\u305f\u5909\u5316\uff08de novo\uff09\u3067\u8d77\u3053\u308a\u307e\u3059\u3002\u4e21\u89aa\u306e\u907a\u4f1d\u5b50\u306b\u306f\u5909\u5316\u304c\u306a\u304f\u3001\u7cbe\u5b50\u3084\u5375\u5b50\u304c\u3067\u304d\u308b\u904e\u7a0b\u3084\u53d7\u7cbe\u76f4\u5f8c\u306e\u5076\u7136\u306b\u3088\u3063\u3066\u751f\u3058\u305f\u3082\u306e\u3067\u3059\u3002\u3054\u81ea\u8eab\u306e\u80b2\u3066\u65b9\u3084\u598a\u5a20\u4e2d\u306e\u751f\u6d3b\u304c\u539f\u56e0\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u518d\u767a\u306e\u53ef\u80fd\u6027\u306f\u3054\u5bb6\u65cf\u3054\u3068\u306b\u7570\u306a\u308b\u305f\u3081\u3001\u6b63\u78ba\u306a\u898b\u901a\u3057\u306f\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u78ba\u8a8d\u3057\u3066\u304f\u3060\u3055\u3044\u3002\"}},\n    {\"@type\":\"Question\",\"name\":\"NIPT\u3067\u3053\u306e\u75c5\u6c17\u306f\u5206\u304b\u308a\u307e\u3059\u304b\uff1f\",\"acceptedAnswer\":{\"@type\":\"Answer\",\"text\":\"\u4e00\u822c\u7684\u306aNIPT\u306f\u3001\u4e3b\u306b21\u30fb18\u30fb13\u30c8\u30ea\u30bd\u30df\u30fc\u306a\u3069\u7279\u5b9a\u306e\u67d3\u8272\u4f53\u306e\u6570\u306e\u5909\u5316\u3092\u8abf\u3079\u308b\u975e\u78ba\u5b9a\u7684\u306a\u691c\u67fb\u3067\u3059\u3002KCNB1\u306e\u3088\u3046\u306a\u4e00\u3064\u306e\u907a\u4f1d\u5b50\u304c\u95a2\u308f\u308b\u3053\u306e\u75c5\u6c17\u306f\u3001\u4e00\u822c\u7684\u306aNIPT\u306e\u5bfe\u8c61\u306b\u306f\u542b\u307e\u308c\u307e\u305b\u3093\u3002\u78ba\u5b9a\u8a3a\u65ad\u306b\u306f\u7f8a\u6c34\u691c\u67fb\u306a\u3069\u304c\u5fc5\u8981\u3067\u3059\u3002\u691c\u67fb\u3067\u5206\u304b\u308b\u7bc4\u56f2\u306b\u306f\u9650\u308a\u304c\u3042\u308b\u305f\u3081\u3001\u4f55\u3092\u8abf\u3079\u305f\u3044\u306e\u304b\u3092\u533b\u5e2b\u3084\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u6574\u7406\u3057\u3066\u304b\u3089\u53d7\u3051\u3066\u304f\u3060\u3055\u3044\u3002\"}},\n    {\"@type\":\"Question\",\"name\":\"\u767a\u4f5c\u306f\u85ac\u3067\u304a\u3055\u307e\u308a\u307e\u3059\u304b\uff1f\",\"acceptedAnswer\":{\"@type\":\"Answer\",\"text\":\"\u767a\u4f5c\u306e\u30bf\u30a4\u30d7\u306b\u3088\u3063\u3066\u306f\u3001\u85ac\u3067\u304a\u3055\u307e\u308a\u306b\u304f\u3044\u96e3\u6cbb\u306e\u30b1\u30fc\u30b9\u304c\u3042\u308a\u307e\u3059\u3002\u305f\u3060\u3001\u8907\u6570\u306e\u85ac\u3092\u7d44\u307f\u5408\u308f\u305b\u3066\u8abf\u6574\u3059\u308b\u3053\u3068\u3067\u3001\u65e5\u5e38\u751f\u6d3b\u306b\u652f\u969c\u304c\u51fa\u306b\u304f\u3044\u7a0b\u5ea6\u307e\u3067\u767a\u4f5c\u3092\u6e1b\u3089\u305b\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u7761\u7720\u4e2d\u306e\u8133\u6ce2\u306e\u4e71\u308c\u304c\u5f37\u3044\u3068\u304d\u306f\u3001\u305d\u308c\u306b\u5408\u308f\u305b\u305f\u6cbb\u7642\u304c\u691c\u8a0e\u3055\u308c\u307e\u3059\u3002\u85ac\u3067\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u304c\u96e3\u3057\u3044\u3068\u304d\u306f\u98df\u4e8b\u7642\u6cd5\u304c\u9078\u629e\u80a2\u306b\u306a\u308b\u3053\u3068\u3082\u3042\u308b\u305f\u3081\u3001\u4e3b\u6cbb\u533b\u3068\u76f8\u8ac7\u3092\u7d9a\u3051\u3066\u304f\u3060\u3055\u3044\u3002\"}},\n    {\"@type\":\"Question\",\"name\":\"26\u578b\u306e\u300c26\u300d\u306f\u91cd\u75c7\u5ea6\u3092\u8868\u3057\u307e\u3059\u304b\uff1f\",\"acceptedAnswer\":{\"@type\":\"Answer\",\"text\":\"\u3053\u306e\u6570\u5b57\u306f\u91cd\u75c7\u5ea6\u3067\u306f\u306a\u304f\u3001\u767a\u898b\u3055\u308c\u305f\u9806\u756a\u3084\u907a\u4f1d\u5b50\u306e\u7a2e\u985e\u3092\u533a\u5225\u3059\u308b\u305f\u3081\u306e\u756a\u53f7\u3067\u3059\u3002\u6570\u304c\u5927\u304d\u3044\u307b\u3069\u91cd\u3044\u3068\u3044\u3046\u610f\u5473\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u540c\u3058KCNB1\u306e\u5909\u5316\u3067\u3082\u3001\u75c7\u72b6\u306e\u91cd\u3055\u3084\u73fe\u308c\u65b9\u306f\u4e00\u4eba\u3072\u3068\u308a\u5927\u304d\u304f\u7570\u306a\u308a\u307e\u3059\u3002\u8a3a\u65ad\u540d\u306e\u6570\u5b57\u306b\u4e0d\u5b89\u3092\u611f\u3058\u3059\u304e\u305a\u3001\u304a\u5b50\u3055\u3093\u306e\u5b9f\u969b\u306e\u69d8\u5b50\u306b\u5408\u308f\u305b\u305f\u30b1\u30a2\u3092\u4e3b\u6cbb\u533b\u3068\u8003\u3048\u3066\u3044\u3063\u3066\u304f\u3060\u3055\u3044\u3002\"}},\n    {\"@type\":\"Question\",\"name\":\"\u65e9\u671f\u306e\u7642\u80b2\u306b\u306f\u3069\u3093\u306a\u610f\u5473\u304c\u3042\u308a\u307e\u3059\u304b\uff1f\",\"acceptedAnswer\":{\"@type\":\"Answer\",\"text\":\"\u3067\u304d\u308b\u3060\u3051\u65e9\u3044\u6642\u671f\u304b\u3089\u8a00\u8449\u3084\u904b\u52d5\u3001\u751f\u6d3b\u52d5\u4f5c\u3092\u652f\u3048\u308b\u7642\u80b2\u3092\u59cb\u3081\u308b\u3068\u3001\u304a\u5b50\u3055\u3093\u306e\u6301\u3064\u529b\u3092\u5f15\u304d\u51fa\u3057\u3084\u3059\u304f\u306a\u308a\u307e\u3059\u3002\u8a71\u3057\u8a00\u8449\u304c\u96e3\u3057\u304f\u3066\u3082\u3001\u7d75\u30ab\u30fc\u30c9\u3084\u30bf\u30d6\u30ec\u30c3\u30c8\u306a\u3069\u306e\u624b\u6bb5\u3067\u6c17\u6301\u3061\u3092\u4f1d\u3048\u3089\u308c\u308b\u3088\u3046\u306b\u306a\u308b\u3068\u3001\u304b\u3093\u3057\u3083\u304f\u304c\u6e1b\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u5730\u57df\u306e\u652f\u63f4\u5236\u5ea6\u306f\u3001\u3053\u3069\u3082\u5bb6\u5ead\u5e81\u3084\u767a\u9054\u969c\u5bb3\u306e\u60c5\u5831\u30bb\u30f3\u30bf\u30fc\u306e\u6848\u5185\u3067\u78ba\u8a8d\u3067\u304d\u307e\u3059\u3002\u307e\u305a\u306f\u4e3b\u6cbb\u533b\u3084\u5730\u57df\u306e\u76f8\u8ac7\u7a93\u53e3\u3078\u3064\u306a\u3044\u3067\u304f\u3060\u3055\u3044\u3002\"}},\n    {\"@type\":\"Question\",\"name\":\"\u51fa\u751f\u524d\u306b\u691c\u67fb\u3092\u53d7\u3051\u308b\u304b\u8ff7\u3063\u3066\u3044\u307e\u3059\u3002\u3069\u3046\u8003\u3048\u308c\u3070\u3088\u3044\u3067\u3059\u304b\uff1f\",\"acceptedAnswer\":{\"@type\":\"Answer\",\"text\":\"\u8ff7\u3046\u6c17\u6301\u3061\u306f\u3001\u3068\u3066\u3082\u81ea\u7136\u306a\u3082\u306e\u3067\u3059\u3002\u307e\u305a\u3001\u305d\u306e\u691c\u67fb\u3067\u4f55\u304c\u5206\u304b\u308a\u3001\u4f55\u304c\u5206\u304b\u3089\u306a\u3044\u306e\u304b\u3092\u6574\u7406\u3057\u3066\u304f\u3060\u3055\u3044\u3002\u3059\u3079\u3066\u306e\u75c5\u6c17\u3092\u4e00\u5ea6\u306b\u8abf\u3079\u3089\u308c\u308b\u691c\u67fb\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u8cbb\u7528\u3084\u7d50\u679c\u304c\u51fa\u305f\u3042\u3068\u306e\u9078\u629e\u3082\u542b\u3081\u3066\u3001\u3054\u592b\u5a66\u3067\u8a71\u3057\u5408\u3044\u3001\u5fc5\u8981\u306a\u3089\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u5c02\u9580\u5bb6\u306b\u76f8\u8ac7\u3059\u308b\u3068\u3001\u7d0d\u5f97\u306e\u3044\u304f\u6c7a\u65ad\u306b\u3064\u306a\u304c\u308a\u307e\u3059\u3002\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30afNIPT\u3067\u306f\u3001LINE\u3067\u306e\u7121\u6599\u76f8\u8ac7\u3082\u53d7\u3051\u4ed8\u3051\u3066\u3044\u307e\u3059\u3002\"}}\n  ]\n}\n<\/script>\n\n","protected":false},"excerpt":{"rendered":"\u3053\u306e\u8a18\u4e8b\u306e\u307e\u3068\u3081\u767a\u9054\u6027\u3066\u3093\u304b\u3093\u6027\u8133\u75c726&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-26-kcnb1-guide\/\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":151,"featured_media":123078,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[1392],"tags":[],"class_list":["post-123267","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\/123267","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/users\/151"}],"replies":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/comments?post=123267"}],"version-history":[{"count":5,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/123267\/revisions"}],"predecessor-version":[{"id":132836,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/123267\/revisions\/132836"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/123078"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=123267"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=123267"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=123267"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}