{"id":123313,"date":"2026-01-16T12:42:04","date_gmt":"2026-01-16T03:42:04","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=123313"},"modified":"2026-07-27T05:40:48","modified_gmt":"2026-07-26T20:40:48","slug":"developmental-epileptic-encephalopathy-42-cacna1a-guide","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-42-cacna1a-guide\/","title":{"rendered":"\u767a\u9054\u6027\u3066\u3093\u304b\u3093\u6027\u8133\u75c742\u578b\u3068\u306f\uff5cCACNA1A\u907a\u4f1d\u5b50\u3068\u7247\u982d\u75db\u306e\u95a2\u4fc2"},"content":{"rendered":"\n<div style=\"border:solid #ffe6e6 0.8rem;background-color: #fff9f9;padding:3% 5%;margin:1rem 0 3rem;\">\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-42-cacna1a-guide\/#%E3%81%93%E3%81%AE%E8%A8%98%E4%BA%8B%E3%81%AE%E7%B5%90%E8%AB%96\" >\u3053\u306e\u8a18\u4e8b\u306e\u7d50\u8ad6<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-42-cacna1a-guide\/#%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\" >\u3053\u306e\u8a18\u4e8b\u3067\u308f\u304b\u308b\u3053\u3068<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-42-cacna1a-guide\/#1_DEE42%E3%81%A8%E3%81%AF%EF%BC%9A%E6%A6%82%E8%A6%81%E3%81%A8%E7%89%B9%E5%BE%B4\" >1. 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-42-cacna1a-guide\/#%E8%84%8A%E9%AB%84%E5%B0%8F%E8%84%B3%E5%A4%B1%E8%AA%BF%E7%97%876%E5%9E%8B%EF%BC%88SCA6%EF%BC%89%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\" >\u810a\u9ac4\u5c0f\u8133\u5931\u8abf\u75c76\u578b\uff08SCA6\uff09\u3068\u306f\u3069\u3046\u9055\u3044\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-28\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-42-cacna1a-guide\/#%E3%81%A6%E3%82%93%E3%81%8B%E3%82%93%E7%99%BA%E4%BD%9C%E3%81%AF%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E8%96%AC%E3%81%A7%E6%B2%BB%E7%99%82%E3%81%97%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >\u3066\u3093\u304b\u3093\u767a\u4f5c\u306f\u3069\u306e\u3088\u3046\u306a\u85ac\u3067\u6cbb\u7642\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-29\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-42-cacna1a-guide\/#%E6%AC%A1%E3%81%AE%E5%AD%90%E3%81%A9%E3%82%82%E3%81%AB%E3%82%82%E5%90%8C%E3%81%98%E7%97%85%E6%B0%97%E3%81%8C%E8%B5%B7%E3%81%93%E3%82%8B%E5%8F%AF%E8%83%BD%E6%80%A7%E3%81%AF%E3%81%82%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >\u6b21\u306e\u5b50\u3069\u3082\u306b\u3082\u540c\u3058\u75c5\u6c17\u304c\u8d77\u3053\u308b\u53ef\u80fd\u6027\u306f\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-30\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-42-cacna1a-guide\/#%E8%A8%BA%E6%96%AD%E3%81%AB%E3%81%AF%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E6%A4%9C%E6%9F%BB%E3%81%8C%E5%BF%85%E8%A6%81%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\" >\u8a3a\u65ad\u306b\u306f\u3069\u306e\u3088\u3046\u306a\u691c\u67fb\u304c\u5fc5\u8981\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-31\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-42-cacna1a-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><\/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%AE%E7%B5%90%E8%AB%96\"><\/span>\u3053\u306e\u8a18\u4e8b\u306e\u7d50\u8ad6<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p><strong>\u767a\u9054\u6027\u304a\u3088\u3073\u3066\u3093\u304b\u3093\u6027\u8133\u75c742\u578b\uff08DEE42\uff09\u306f\u300119\u756a\u67d3\u8272\u4f53\u4e0a\u306eCACNA1A\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u3001\u4e73\u5150\u671f\u65e9\u671f\u304b\u3089\u3066\u3093\u304b\u3093\u767a\u4f5c\u3068\u91cd\u5ea6\u306e\u767a\u9054\u9045\u6ede\u304c\u73fe\u308c\u308b\u5e0c\u5c11\u75be\u60a3\u3067\u3059\u3002<\/strong>\u540c\u3058CACNA1A\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306f\u3001\u7247\u982d\u75db\uff08\u5bb6\u65cf\u6027\u7247\u9ebb\u75fa\u6027\u7247\u982d\u75db1\u578b\uff09\u3084\u3001\u3075\u3089\u3064\u304d\u306e\u767a\u4f5c\u3092\u7e70\u308a\u8fd4\u3059\u767a\u4f5c\u6027\u904b\u52d5\u5931\u8abf\u75c72\u578b\u3001\u4e2d\u5e74\u671f\u4ee5\u964d\u306b\u9032\u884c\u3059\u308b\u810a\u9ac4\u5c0f\u8133\u5931\u8abf\u75c76\u578b\uff08SCA6\uff09\u306e\u539f\u56e0\u306b\u3082\u306a\u308a\u307e\u3059\u3002DEE42\u306f\u3053\u306e\u907a\u4f1d\u5b50\u304c\u5f15\u304d\u8d77\u3053\u3059\u75c7\u72b6\u306e\u4e2d\u3067\u3082\u3063\u3068\u3082\u91cd\u3044\u90e8\u985e\u306b\u3042\u305f\u308a\u3001\u4e73\u5150\u671f\u304b\u3089\u306e\u96e3\u6cbb\u6027\u3066\u3093\u304b\u3093\u3068\u5c0f\u8133\u5931\u8abf\u3092\u4f75\u305b\u6301\u3064\u70b9\u304c\u7279\u5fb4\u3067\u3059\u3002\u307b\u3068\u3093\u3069\u306e\u75c7\u4f8b\u306f\u7a81\u7136\u5909\u7570\uff08\u30c7\u30ce\u30dc\uff09\u3067\u767a\u751f\u3057\u3001\u3054\u4e21\u89aa\u306e\u907a\u4f1d\u3084\u751f\u6d3b\u7fd2\u6163\u304c\u539f\u56e0\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u672c\u8a18\u4e8b\u3067\u306f\u3001\u75c7\u72b6\u30fb\u539f\u56e0\u30fb\u8a3a\u65ad\u30fb\u6cbb\u7642\u306e\u5168\u4f53\u50cf\u3068\u3001\u540c\u3058\u907a\u4f1d\u5b50\u304b\u3089\u751f\u307e\u308c\u308b\u75be\u60a3\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u3068\u306e\u9055\u3044\u3092\u3001\u516c\u7684\u30fb\u5b66\u8853\u60c5\u5831\u6e90\u306b\u3082\u3068\u3065\u3044\u3066\u6574\u7406\u3057\u307e\u3059\u3002<\/p><\/div>\n\n\n\n<div style=\"border:solid #e6f0ff 0.6rem;background-color:#f7fbff;padding:3% 5%;margin:1rem 0 3rem;\">\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>DEE42\uff08CACNA1A\u95a2\u9023\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\uff09\u306e\u75c7\u72b6\u3068\u767a\u75c7\u6642\u671f<\/li>\n<li>CACNA1A\u907a\u4f1d\u5b50\u3072\u3068\u3064\u304c\u3001\u7247\u982d\u75db\u304b\u3089\u4e73\u5150\u3066\u3093\u304b\u3093\u307e\u3067\u5e45\u5e83\u3044\u75c5\u6c17\u3092\u5f15\u304d\u8d77\u3053\u3059\u4ed5\u7d44\u307f<\/li>\n<li>\u810a\u9ac4\u5c0f\u8133\u5931\u8abf\u75c76\u578b\uff08SCA6\uff09\u3084\u767a\u4f5c\u6027\u904b\u52d5\u5931\u8abf\u75c72\u578b\u3068\u306e\u9055\u3044\u3068\u898b\u5206\u3051\u65b9<\/li>\n<li>\u8a3a\u65ad\u306b\u5fc5\u8981\u306a\u691c\u67fb\u3001\u6cbb\u7642\u3068\u30b1\u30a2\u306e\u9078\u629e\u80a2\u3001\u6b21\u306e\u304a\u5b50\u69d8\u3078\u306e\u907a\u4f1d\u30ea\u30b9\u30af<\/li>\n<\/ul>\n<\/div>\n\n\n\n<p>\u533b\u5e2b\u304b\u3089Developmental and epileptic encephalopathy 42\u3068\u3044\u3046\u975e\u5e38\u306b\u9577\u304f\u3001\u96e3\u89e3\u306a\u8a3a\u65ad\u540d\u3092\u544a\u3052\u3089\u308c\u3001\u60c5\u5831\u3092\u6c42\u3081\u3066\u3053\u306e\u30da\u30fc\u30b8\u306b\u305f\u3069\u308a\u7740\u3044\u305f\u3054\u5bb6\u65cf\u306e\u7686\u69d8\u3078\u3002<\/p>\n\n\n\n<p>\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\u3088\u3046\u306a\u96e3\u75c5\u306e\u8a3a\u65ad\u304c\u4e0b\u308a\u3001\u8a08\u308a\u77e5\u308c\u306a\u3044\u30b7\u30e7\u30c3\u30af\u3068\u4e0d\u5b89\u306e\u4e2d\u306b\u3044\u3089\u3063\u3057\u3083\u308b\u3053\u3068\u3068\u601d\u3044\u307e\u3059\u3002\u7279\u306b\u3001\u3053\u306e\u75c5\u6c17\u306f\u4e16\u754c\u7684\u306b\u898b\u3066\u3082\u5e0c\u5c11\u75be\u60a3\u306e\u4e00\u3064\u306b\u6570\u3048\u3089\u308c\u308b\u305f\u3081\u3001\u65e5\u672c\u8a9e\u3067\u66f8\u304b\u308c\u305f\u8a73\u3057\u3044\u60c5\u5831\u306f\u30a4\u30f3\u30bf\u30fc\u30cd\u30c3\u30c8\u4e0a\u3067\u3082\u307b\u3068\u3093\u3069\u898b\u5f53\u305f\u308a\u307e\u305b\u3093\u3002\u533b\u5e2b\u3067\u3042\u3063\u3066\u3082\u3001\u3066\u3093\u304b\u3093\u3084\u907a\u4f1d\u306e\u5c02\u9580\u5bb6\u3067\u306a\u3051\u308c\u3070\u8a73\u3057\u304f\u77e5\u3089\u306a\u3044\u3053\u3068\u3082\u73cd\u3057\u304f\u306a\u3044\u3001\u6bd4\u8f03\u7684\u65b0\u3057\u3044\u75be\u60a3\u6982\u5ff5\u3067\u3059\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\u75c742\u578b\u3068\u306a\u308a\u307e\u3059\u3002\u533b\u7642\u73fe\u5834\u3067\u306f\u3001\u982d\u6587\u5b57\u3092\u3068\u3063\u3066DEE42\uff08\u30c7\u30a3\u30fc\u30fb\u30a4\u30fc\u30fb\u30a4\u30fc\u30fb\u30e8\u30f3\u30b8\u30e5\u30a6\u30cb\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\u3001CACNA1A\u95a2\u9023\u795e\u7d4c\u767a\u9054\u969c\u5bb3\u3084CACNA1A\u95a2\u9023\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\u3068\u547c\u3070\u308c\u308b\u3053\u3068\u3082\u5897\u3048\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8133\u75c7\u3068\u3044\u3046\u8a00\u8449\u308442\u578b\u3068\u3044\u3046\u6570\u5b57\u306b\u5727\u5012\u3055\u308c\u3066\u3057\u307e\u3046\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u304c\u3001\u3053\u306e\u6570\u5b57\u306f\u767a\u898b\u3055\u308c\u305f\u9806\u756a\u3092\u533a\u5225\u3059\u308b\u305f\u3081\u306e\u901a\u3057\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\u3068\u3044\u3046\u3053\u3068\u306f\u3001\u3053\u308c\u304b\u3089\u8d77\u3053\u308a\u3046\u308b\u3053\u3068\u3078\u306e\u5bfe\u7b56\u304c\u7acb\u3066\u3084\u3059\u304f\u306a\u308a\u3001\u304a\u5b50\u3055\u3093\u306b\u5408\u3063\u305f\u7642\u80b2\u3084\u30b1\u30a2\u306e\u30d7\u30e9\u30f3\u3092\u8003\u3048\u308b\u305f\u3081\u306e\u5730\u56f3\u3092\u624b\u306b\u5165\u308c\u305f\u3068\u3044\u3046\u3053\u3068\u3067\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n<!--nipt_mono-->\r\n<div class=\"nipt-mono\">\r\n    <div class=\"nipt-mono-btn\">\r\n        <a href=\"\/nipt\/nipt-mono\/\">\r\n            <img decoding=\"async\" loading=\"lazy\" src=\"\/nipt\/wp-content\/uploads\/2026\/03\/NIPT-MONO.webp\" alt=\"NIPT-MONO\u3067\u8abf\u3079\u3089\u308c\u307e\u3059\">\r\n         <\/a>\r\n    <\/div>\r\n<\/div>\r\n\r\n<style>\r\n.nipt-mono {\r\n    text-align: center; \/* \u89aa\u8981\u7d20\u3067\u6a2a\u4e2d\u592e *\/\r\n}\r\n.nipt-mono a img {\r\n    display: inline-block; \/* \u753b\u50cf\u3092\u30a4\u30f3\u30e9\u30a4\u30f3\u30d6\u30ed\u30c3\u30af\u5316\u3057\u3066 text-align \u306b\u53cd\u6620 *\/\r\n    width: 333px;\r\n}\r\n<\/style>\r\n<!--\/nipt_mono-->\r\n\r\n\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_DEE42%E3%81%A8%E3%81%AF%EF%BC%9A%E6%A6%82%E8%A6%81%E3%81%A8%E7%89%B9%E5%BE%B4\"><\/span><strong>1. DEE42\u3068\u306f\uff1a\u6982\u8981\u3068\u7279\u5fb4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>DEE42\u306f\u3001\u751f\u307e\u308c\u3064\u304d\u306eCACNA1A\u907a\u4f1d\u5b50\u306e\u5909\u5316\u306b\u3088\u308a\u3001\u4e73\u5150\u671f\u65e9\u671f\u304b\u3089\u96e3\u6cbb\u6027\u306e\u3066\u3093\u304b\u3093\u767a\u4f5c\u3068\u91cd\u5ea6\u306e\u767a\u9054\u9045\u6ede\u304c\u73fe\u308c\u308b\u75be\u60a3\u3067\u3059\u3002<\/strong>\u3053\u306e\u75c5\u540d\u30b0\u30eb\u30fc\u30d7\u306e\u610f\u5473\u3092\u3001\u307e\u305a\u6574\u7406\u3057\u3066\u304a\u304d\u307e\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<p>\u767a\u9054\u6027\u3068\u306f\u3001\u751f\u307e\u308c\u6301\u3063\u305f\u907a\u4f1d\u5b50\u306e\u5909\u5316\u305d\u306e\u3082\u306e\u304c\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\u3042\u308b\u304b\u3089\u767a\u9054\u304c\u9045\u308c\u308b\u3060\u3051\u3067\u306a\u304f\u3001\u767a\u4f5c\u304c\u306a\u304f\u3066\u3082\u767a\u9054\u306b\u8ab2\u984c\u304c\u751f\u3058\u308b\u4f53\u8cea\u3067\u3042\u308b\u3053\u3068\u3092\u793a\u3059\u8a00\u8449\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3066\u3093\u304b\u3093\u6027\u3068\u306f\u3001\u983b\u7e41\u306a\u3066\u3093\u304b\u3093\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\u60aa\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<\/p>\n\n\n\n<p>\u3064\u307e\u308aDEE42\u306f\u3001\u907a\u4f1d\u5b50\u306e\u5f71\u97ff\u306b\u3088\u308b\u767a\u9054\u306e\u9045\u308c\u3068\u3001\u3066\u3093\u304b\u3093\u767a\u4f5c\u306b\u3088\u308b\u8133\u3078\u306e\u8ca0\u62c5\u3068\u3044\u3046\u4e8c\u3064\u306e\u8981\u7d20\u304c\u5408\u308f\u3055\u3063\u3066\u75c7\u72b6\u304c\u73fe\u308c\u308b\u75c5\u6c17\u3068\u3044\u3048\u307e\u3059\u3002\u767a\u75c7\u6642\u671f\u306f\u751f\u5f8c6\u304b\u6708\u4ee5\u5185\u306e\u4e73\u5150\u671f\u65e9\u671f\u3067\u3042\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u65e9\u671f\u767a\u898b\u3068\u9069\u5207\u306a\u30b1\u30a2\u304c\u5927\u5207\u3067\u3059\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%EF%BC%9A%E3%81%A6%E3%82%93%E3%81%8B%E3%82%93%E3%83%BB%E7%99%BA%E9%81%94%E9%81%85%E6%BB%9E%E3%83%BB%E9%81%8B%E5%8B%95%E5%A4%B1%E8%AA%BF\"><\/span><strong>2. \u4e3b\u306a\u75c7\u72b6\uff1a\u3066\u3093\u304b\u3093\u30fb\u767a\u9054\u9045\u6ede\u30fb\u904b\u52d5\u5931\u8abf<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>DEE42\u306e\u75c7\u72b6\u306f\u3001\u3066\u3093\u304b\u3093\u767a\u4f5c\u3001\u767a\u9054\u306e\u9045\u308c\u3001\u305d\u3057\u3066\u5c0f\u8133\u306e\u50cd\u304d\u306b\u95a2\u308f\u308b\u795e\u7d4c\u75c7\u72b6\u306e\u4e09\u3064\u306b\u5927\u304d\u304f\u5206\u3051\u3089\u308c\u307e\u3059\u3002<\/strong>\u304a\u5b50\u3055\u3093\u306b\u3088\u3063\u3066\u75c7\u72b6\u306e\u91cd\u3055\u3084\u51fa\u65b9\u306f\u7570\u306a\u308a\u307e\u3059\u304c\u3001\u3053\u308c\u307e\u3067\u306b\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u4ee3\u8868\u7684\u306a\u7279\u5fb4\u3092\u898b\u3066\u3044\u304d\u307e\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%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\u60a3\u8005\u3055\u3093\u3067\u3001\u751f\u5f8c\u6570\u304b\u6708\u4ee5\u5185\u306e\u65e9\u3044\u6642\u671f\u306b\u3066\u3093\u304b\u3093\u767a\u4f5c\u304c\u59cb\u307e\u308a\u307e\u3059\u3002\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<figure class=\"wp-block-table\"><table class=\"has-fixed-layout\"><thead><tr><th>\u767a\u4f5c\u306e\u30bf\u30a4\u30d7<\/th><th>\u4e3b\u306a\u7279\u5fb4<\/th><\/tr><\/thead><tbody><tr><td>\u5168\u822c\u5f37\u76f4\u9593\u4ee3\u767a\u4f5c<\/td><td>\u5168\u8eab\u304c\u786c\u76f4\u3057\u305f\u3042\u3068\u306b\u30ac\u30af\u30ac\u30af\u3068\u9707\u3048\u308b\u3001\u5927\u304d\u306a\u767a\u4f5c<\/td><\/tr><tr><td>\u6b20\u795e\u767a\u4f5c<\/td><td>\u610f\u8b58\u304c\u6570\u79d2\u9593\u9014\u5207\u308c\u3001\u52d5\u4f5c\u304c\u6b62\u307e\u308b\u767a\u4f5c<\/td><\/tr><tr><td>\u30df\u30aa\u30af\u30ed\u30cb\u30fc\u767a\u4f5c<\/td><td>\u624b\u8db3\u3084\u4f53\u304c\u4e00\u77ac\u30d3\u30af\u30c3\u3068\u3059\u308b\u767a\u4f5c<\/td><\/tr><tr><td>\u7126\u70b9\u767a\u4f5c<\/td><td>\u4f53\u306e\u4e00\u90e8\u304c\u30d4\u30af\u30d4\u30af\u52d5\u304f\u3001\u307e\u305f\u306f\u8996\u7dda\u304c\u504f\u308b\u767a\u4f5c<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<p>DEE42\u306e\u3066\u3093\u304b\u3093\u767a\u4f5c\u306f\u3001\u4e00\u822c\u7684\u306a\u6297\u3066\u3093\u304b\u3093\u85ac\u304c\u52b9\u304d\u306b\u304f\u3044\u96e3\u6cbb\u6027\u3067\u3042\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002\u8907\u6570\u306e\u85ac\u3092\u7d44\u307f\u5408\u308f\u305b\u3066\u3082\u767a\u4f5c\u3092\u5b8c\u5168\u306b\u6b62\u3081\u308b\u3053\u3068\u304c\u96e3\u3057\u3044\u5834\u5408\u304c\u3042\u308a\u3001\u767a\u4f5c\u306e\u56de\u6570\u3092\u6e1b\u3089\u3057\u3066\u751f\u6d3b\u3078\u306e\u652f\u969c\u3092\u6291\u3048\u308b\u3053\u3068\u304c\u76ee\u6a19\u306b\u306a\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%AE%E9%81%85%E3%82%8C%E3%81%A8%E7%AD%8B%E7%B7%8A%E5%BC%B5%E4%BD%8E%E4%B8%8B\"><\/span><strong>\u767a\u9054\u306e\u9045\u308c\u3068\u7b4b\u7dca\u5f35\u4f4e\u4e0b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u767a\u4f5c\u3068\u4e26\u3093\u3067\u3001\u91cd\u5ea6\u306e\u767a\u9054\u306e\u9045\u308c\u304c\u898b\u3089\u308c\u307e\u3059\u3002\u9996\u304c\u3059\u308f\u308b\u3001\u76ee\u3067\u3082\u306e\u3092\u8ffd\u3046\u3001\u304a\u5ea7\u308a\u3092\u3059\u308b\u3068\u3044\u3063\u305f\u904b\u52d5\u9762\u306e\u767a\u9054\u3068\u3001\u3042\u3084\u3059\u3068\u7b11\u3046\u3001\u8a00\u8449\u3092\u7406\u89e3\u3059\u308b\u3068\u3044\u3063\u305f\u7cbe\u795e\u9762\u306e\u767a\u9054\u306e\u4e21\u65b9\u304c\u3001\u4e00\u822c\u7684\u306a\u30da\u30fc\u30b9\u3088\u308a\u3086\u3063\u304f\u308a\u306b\u306a\u308a\u307e\u3059\u3002\u591a\u304f\u306e\u5834\u5408\u3001\u4e2d\u7b49\u5ea6\u304b\u3089\u91cd\u5ea6\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3092\u4f34\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8d64\u3061\u3083\u3093\u306e\u9803\u306b\u3001\u4f53\u304c\u3075\u306b\u3083\u3075\u306b\u3083\u3068\u3057\u3066\u67d4\u3089\u304b\u3044\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u3082\u975e\u5e38\u306b\u591a\u3044\u3067\u3059\u3002\u62b1\u3063\u3053\u3057\u305f\u6642\u306b\u305a\u3063\u3057\u308a\u3068\u91cd\u304f\u611f\u3058\u305f\u308a\u3001\u95a2\u7bc0\u304c\u67d4\u3089\u304b\u3059\u304e\u305f\u308a\u3057\u307e\u3059\u3002\u3053\u306e\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u304c\u3001\u904b\u52d5\u767a\u9054\u304c\u3086\u3063\u304f\u308a\u306b\u306a\u308b\u4e00\u56e0\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%8B%E5%8B%95%E5%A4%B1%E8%AA%BF%E3%81%A8%E7%9C%BC%E6%8C%AF%EF%BC%88%E5%B0%8F%E8%84%B3%E7%97%87%E7%8A%B6%EF%BC%89\"><\/span><strong>\u904b\u52d5\u5931\u8abf\u3068\u773c\u632f\uff08\u5c0f\u8133\u75c7\u72b6\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u304a\u5ea7\u308a\u3084\u6b69\u884c\u304c\u3067\u304d\u308b\u3088\u3046\u306b\u306a\u3063\u3066\u3082\u3001\u4f53\u304c\u3075\u3089\u3064\u3044\u305f\u308a\u624b\u304c\u9707\u3048\u305f\u308a\u3059\u308b\u904b\u52d5\u5931\u8abf\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u30d0\u30e9\u30f3\u30b9\u3092\u53f8\u308b\u5c0f\u8133\u3068\u3044\u3046\u8133\u306e\u90e8\u5206\u304c\u5f71\u97ff\u3092\u53d7\u3051\u3066\u3044\u308b\u305f\u3081\u3067\u3059\u3002\u9ed2\u76ee\u304c\u5c0f\u523b\u307f\u306b\u63fa\u308c\u308b\u773c\u632f\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u5c0f\u8133\u75c7\u72b6\u306f\u3001DEE42\u3092\u5f8c\u8ff0\u306eCACNA1A\u95a2\u9023\u75be\u60a3\u306e\u306a\u304b\u3067\u7279\u5fb4\u3065\u3051\u308b\u3001\u975e\u5e38\u306b\u91cd\u8981\u306a\u30b5\u30a4\u30f3\u3067\u3059\u3002MRI\u691c\u67fb\u3092\u884c\u3046\u3068\u3001\u6210\u9577\u3068\u3068\u3082\u306b\u5c0f\u8133\u304c\u5c0f\u3055\u304f\u306a\u308b\u5c0f\u8133\u840e\u7e2e\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3088\u304f\u3042\u308a\u307e\u3059\u3002\u75c5\u72b6\u306e\u7d4c\u904e\u3068\u3068\u3082\u306b\u3001\u5927\u8133\u5168\u4f53\u304c\u308f\u305a\u304b\u306b\u840e\u7e2e\u3057\u3066\u304f\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u305d\u306e\u4ed6\u3001\u304a\u3063\u3071\u3044\u3084\u30df\u30eb\u30af\u3092\u98f2\u3080\u529b\u304c\u5f31\u3044\u54fa\u4e73\u969c\u5bb3\u3001\u98df\u3079\u7269\u3092\u98f2\u307f\u8fbc\u3080\u306e\u304c\u82e6\u624b\u306a\u56a5\u4e0b\u969c\u5bb3\u3001\u7761\u7720\u306e\u30ea\u30ba\u30e0\u304c\u6574\u3044\u306b\u304f\u3044\u7761\u7720\u969c\u5bb3\u304c\u898b\u3089\u308c\u308b\u5834\u5408\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<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2026\/01\/1381569_s.webp\" alt=\"\u904b\u52d5\u5931\u8abf\u3084\u767a\u9054\u306e\u9045\u308c\u304c\u307f\u3089\u308c\u308b\u4e73\u5150\u306e\u30a4\u30e1\u30fc\u30b8\" class=\"wp-image-121709\"\/><\/figure><\/div>\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_CACNA1A%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%B2%E3%81%A8%E3%81%A4%E3%81%A7%E8%B5%B7%E3%81%93%E3%82%8B%E8%A4%87%E6%95%B0%E3%81%AE%E7%97%85%E6%B0%97\"><\/span><strong>3. CACNA1A\u907a\u4f1d\u5b50\u3072\u3068\u3064\u3067\u8d77\u3053\u308b\u8907\u6570\u306e\u75c5\u6c17<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>CACNA1A\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306f\u3001DEE42\u3060\u3051\u3067\u306a\u304f\u3001\u7247\u982d\u75db\u30fb\u767a\u4f5c\u6027\u306e\u3075\u3089\u3064\u304d\u30fb\u9032\u884c\u6027\u306e\u5931\u8abf\u75c7\u306a\u3069\u3001\u75c7\u72b6\u306e\u91cd\u3055\u3082\u73fe\u308c\u308b\u5e74\u4ee3\u3082\u307e\u3063\u305f\u304f\u7570\u306a\u308b\u8907\u6570\u306e\u75c5\u6c17\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002<\/strong>\u3053\u306e\u300c\u3072\u3068\u3064\u306e\u907a\u4f1d\u5b50\u304b\u3089\u8907\u6570\u306e\u9854\u3092\u6301\u3064\u75c5\u6c17\u304c\u751f\u307e\u308c\u308b\u300d\u3068\u3044\u3046\u70b9\u3053\u305d\u3001DEE42\u3092\u7406\u89e3\u3059\u308b\u3046\u3048\u3067\u6b20\u304b\u305b\u306a\u3044\u8996\u70b9\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u65e5\u672c\u8a9e\u7248GeneReviews\uff08\u907a\u4f1d\u6027\u75be\u60a3\u60c5\u5831\u30ea\u30bd\u30fc\u30b9GRJ\u3001\u6771\u4eac\u5927\u5b66\uff09\u306f\u3001CACNA1A\u907a\u4f1d\u5b50\u306e\u30d8\u30c6\u30ed\u63a5\u5408\u6027\u306e\u75c5\u7684\u30d0\u30ea\u30a2\u30f3\u30c8\u306b\u3064\u3044\u3066\u6574\u7406\u3057\u3066\u3044\u307e\u3059\u3002\u767a\u4f5c\u6027\u904b\u52d5\u5931\u8abf\u75c72\u578b\u3001\u5bb6\u65cf\u6027\u7247\u9ebb\u75fa\u6027\u7247\u982d\u75db\u3001\u9032\u884c\u6027\u5c0f\u8133\u6027\u904b\u52d5\u5931\u8abf\u3001\u305d\u3057\u3066\u65e9\u671f\u4e73\u5150\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\uff08DEE42\u3092\u542b\u3080\uff09\u3068\u3044\u3046\u3001\u907a\u4f1d\u5b66\u7684\u306b\u95a2\u9023\u306e\u3042\u308b\u4e00\u9023\u306e\u75be\u60a3\u3092\u5f15\u304d\u8d77\u3053\u3059\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u4e3b\u306a\u9055\u3044\u3092\u8868\u306b\u307e\u3068\u3081\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<figure class=\"wp-block-table\"><table class=\"has-fixed-layout\"><thead><tr><th>\u75c5\u6c17<\/th><th>\u5909\u7570\u306e\u30bf\u30a4\u30d7<\/th><th>\u767a\u75c7\u6642\u671f\u306e\u76ee\u5b89<\/th><th>\u4e3b\u306a\u75c7\u72b6<\/th><\/tr><\/thead><tbody><tr><td>\u5bb6\u65cf\u6027\u7247\u9ebb\u75fa\u6027\u7247\u982d\u75db1\u578b\uff08FHM1\uff09<\/td><td>\u30df\u30b9\u30bb\u30f3\u30b9\u5909\u7570\uff08\u6a5f\u80fd\u7372\u5f97\u578b\u304c\u591a\u3044\uff09<\/td><td>\u5c0f\u5150\u671f\u301c\u6210\u4eba<\/td><td>\u7247\u5074\u306e\u9ebb\u75fa\u3092\u4f34\u3046\u91cd\u3044\u7247\u982d\u75db\u767a\u4f5c<\/td><\/tr><tr><td>\u767a\u4f5c\u6027\u904b\u52d5\u5931\u8abf\u75c72\u578b\uff08EA2\uff09<\/td><td>\u30df\u30b9\u30bb\u30f3\u30b9\u30fb\u30ca\u30f3\u30bb\u30f3\u30b9\u30fb\u30d5\u30ec\u30fc\u30e0\u30b7\u30d5\u30c8\u30fb\u6b20\u5931\u306a\u3069<\/td><td>\u5c0f\u5150\u671f\u301c\u9752\u5e74\u671f<\/td><td>\u6570\u6642\u9593\u301c\u6570\u65e5\u7d9a\u304f\u3075\u3089\u3064\u304d\u30fb\u3081\u307e\u3044\u306e\u767a\u4f5c<\/td><\/tr><tr><td>\u810a\u9ac4\u5c0f\u8133\u5931\u8abf\u75c76\u578b\uff08SCA6\uff09<\/td><td>CAG\u30ea\u30d4\u30fc\u30c8\u306e\u7570\u5e38\u306a\u4f38\u9577<\/td><td>\u6210\u4eba\u671f\uff08\u5e73\u574743\u301c52\u6b73\uff09<\/td><td>\u3086\u3063\u304f\u308a\u9032\u884c\u3059\u308b\u6b69\u884c\u969c\u5bb3\u30fb\u69cb\u97f3\u969c\u5bb3<\/td><\/tr><tr><td>DEE42<\/td><td>\u6a5f\u80fd\u7372\u5f97\u578b\u30fb\u6a5f\u80fd\u55aa\u5931\u578b\u306e\u4e21\u65b9\u304c\u5831\u544a<\/td><td>\u4e73\u5150\u671f\u65e9\u671f\uff08\u751f\u5f8c6\u304b\u6708\u4ee5\u5185\u304c\u591a\u3044\uff09<\/td><td>\u96e3\u6cbb\u6027\u3066\u3093\u304b\u3093\u30fb\u91cd\u5ea6\u767a\u9054\u9045\u6ede\u30fb\u5c0f\u8133\u5931\u8abf<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<p>\u810a\u9ac4\u5c0f\u8133\u5931\u8abf\u75c76\u578b\u306f\u3001CACNA1A\u907a\u4f1d\u5b50\u306e\u4e2d\u306b\u3042\u308bCAG\u3068\u3044\u3046\u914d\u5217\u306e\u7e70\u308a\u8fd4\u3057\u56de\u6570\u304c\u7570\u5e38\u306b\u5897\u3048\u308b\u3053\u3068\u3067\u8d77\u3053\u308a\u307e\u3059\u3002GRJ\u306b\u3088\u308c\u3070\u3001\u901a\u5e38\u306f18\u56de\u4ee5\u4e0b\u306e\u7e70\u308a\u8fd4\u3057\u304c\u300120\u56de\u304b\u308933\u56de\u307e\u3067\u4f38\u3073\u308b\u3068\u767a\u75c7\u57df\u306b\u5165\u308a\u300122\u56de\u306e\u7e70\u308a\u8fd4\u3057\u304c\u3082\u3063\u3068\u3082\u591a\u304f\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u75c5\u7684\u306a\u9577\u3055\u3060\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u767a\u75c7\u5e74\u9f62\u306f19\u6b73\u304b\u308973\u6b73\u307e\u3067\u3068\u5e45\u5e83\u304f\u3001\u5e73\u5747\u306f43\u6b73\u304b\u308952\u6b73\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u4e00\u65b9\u3067DEE42\u306f\u3001CAG\u30ea\u30d4\u30fc\u30c8\u306e\u7570\u5e38\u3067\u306f\u306a\u304f\u3001\u907a\u4f1d\u5b50\u306e\u5225\u306e\u90e8\u5206\u306b\u8d77\u304d\u308b\u4e00\u70b9\u5909\u7570\u3084\u6b20\u5931\u304c\u539f\u56e0\u3067\u3059\u3002\u540c\u3058\u907a\u4f1d\u5b50\u3067\u3082\u3001\u5909\u5316\u306e\u8d77\u304d\u308b\u5834\u6240\u3084\u7a2e\u985e\u306b\u3088\u3063\u3066\u3001\u6210\u4eba\u306b\u306a\u3063\u3066\u304b\u3089\u9032\u884c\u3059\u308b\u5931\u8abf\u75c7\u306b\u306a\u308b\u306e\u304b\u3001\u4e73\u5150\u671f\u304b\u3089\u59cb\u307e\u308b\u91cd\u3044\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\u306b\u306a\u308b\u306e\u304b\u3001\u5927\u304d\u304f\u9053\u304c\u5206\u304b\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u79c1\u81ea\u8eab\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u5834\u3067\u300c\u7247\u982d\u75db\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u3068\u540c\u3058\u306a\u306e\u306b\u3001\u306a\u305c\u3046\u3061\u306e\u5b50\u3060\u3051\u3053\u3093\u306a\u306b\u91cd\u3044\u306e\u3067\u3059\u304b\u300d\u3068\u3044\u3046\u3054\u8cea\u554f\u3092\u3044\u305f\u3060\u304f\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u540c\u3058\u907a\u4f1d\u5b50\u540d\u3092\u691c\u7d22\u3057\u3066\u3001\u6bd4\u8f03\u7684\u3088\u304f\u77e5\u3089\u308c\u305f\u7247\u982d\u75db\u3084\u4e00\u904e\u6027\u306e\u3075\u3089\u3064\u304d\u306e\u60c5\u5831\u3070\u304b\u308a\u304c\u51fa\u3066\u304f\u308b\u3053\u3068\u306b\u3001\u304b\u3048\u3063\u3066\u6238\u60d1\u3046\u3054\u5bb6\u65cf\u3082\u5c11\u306a\u304f\u3042\u308a\u307e\u305b\u3093\u3002DEE42\u306f\u3001\u3053\u306e\u907a\u4f1d\u5b50\u304c\u5f15\u304d\u8d77\u3053\u3059\u75be\u60a3\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u306e\u4e2d\u3067\u3082\u3001\u4e73\u5150\u671f\u767a\u75c7\u30fb\u96e3\u6cbb\u6027\u3066\u3093\u304b\u3093\u30fb\u91cd\u5ea6\u767a\u9054\u9045\u6ede\u3068\u3044\u3046\u7d44\u307f\u5408\u308f\u305b\u3092\u6301\u3064\u3001\u3088\u308a\u91cd\u75c7\u5074\u306b\u4f4d\u7f6e\u3059\u308b\u30bf\u30a4\u30d7\u3060\u3068\u3054\u7406\u89e3\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<p>\u6307\u5b9a\u96e3\u75c5149\u300c\u7247\u5074\u75d9\u6523\u30fb\u7247\u9ebb\u75fa\u30fb\u3066\u3093\u304b\u3093\u75c7\u5019\u7fa4\u300d\u306b\u3064\u3044\u3066\u3082\u3001CACNA1A\u907a\u4f1d\u5b50\u3068\u306e\u95a2\u9023\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u305f\u3060\u3057\u5831\u544a\u6570\u306f\u307e\u3060\u591a\u304f\u306a\u304f\u3001\u614e\u91cd\u306a\u8a55\u4fa1\u304c\u5fc5\u8981\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E5%8E%9F%E5%9B%A0%EF%BC%9ACav21%E3%82%AB%E3%83%AB%E3%82%B7%E3%82%A6%E3%83%A0%E3%83%81%E3%83%A3%E3%83%8D%E3%83%AB%E3%81%AE%E6%A9%9F%E8%83%BD%E7%95%B0%E5%B8%B8\"><\/span><strong>4. \u539f\u56e0\uff1aCav2.1\u30ab\u30eb\u30b7\u30a6\u30e0\u30c1\u30e3\u30cd\u30eb\u306e\u6a5f\u80fd\u7570\u5e38<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>DEE42\u306e\u539f\u56e0\u306f\u3001\u8133\u306e\u795e\u7d4c\u7d30\u80de\u306b\u3042\u308b\u30ab\u30eb\u30b7\u30a6\u30e0\u306e\u901a\u308a\u9053\uff08\u30ab\u30eb\u30b7\u30a6\u30e0\u30c1\u30e3\u30cd\u30eb\uff09\u306e\u8a2d\u8a08\u56f3\u304c\u5909\u5316\u3057\u3066\u3057\u307e\u3046\u3053\u3068\u3067\u3059\u3002<\/strong>\u306a\u305c\u3001\u3066\u3093\u304b\u3093\u304c\u8d77\u304d\u305f\u308a\u3075\u3089\u3064\u304d\u304c\u51fa\u305f\u308a\u3059\u308b\u306e\u304b\u3001\u305d\u306e\u4ed5\u7d44\u307f\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=\"CACNA1A%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AE%E5%BD%B9%E5%89%B2\"><\/span><strong>CACNA1A\u907a\u4f1d\u5b50\u306e\u5f79\u5272<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>DEE42\u306e\u539f\u56e0\u306f\u3001\u7b2c19\u756a\u67d3\u8272\u4f53\u306b\u3042\u308bCACNA1A\uff08\u30ab\u30af\u30ca\u30fb\u30ef\u30f3\u30fb\u30a8\u30fc\uff09\u3068\u3044\u3046\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3067\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306f\u3001\u96fb\u4f4d\u4f9d\u5b58\u6027\u30ab\u30eb\u30b7\u30a6\u30e0\u30c1\u30e3\u30cd\u30eb\u3068\u3044\u3046\u3001\u8133\u306e\u795e\u7d4c\u7d30\u80de\u306e\u8868\u9762\u306b\u3042\u308b\u5c0f\u3055\u306a\u901a\u308a\u9053\u3092\u4f5c\u308b\u305f\u3081\u306e\u8a2d\u8a08\u56f3\u3067\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\u53d6\u308a\u3057\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u60c5\u5831\u306e\u53d7\u3051\u6e21\u3057\u306b\u304a\u3044\u3066\u3001\u30ab\u30eb\u30b7\u30a6\u30e0\u30a4\u30aa\u30f3\u304c\u7d30\u80de\u306e\u4e2d\u306b\u5165\u3063\u3066\u304f\u308b\u3053\u3068\u304c\u300c\u30b9\u30a4\u30c3\u30c1\u30aa\u30f3\u300d\u306e\u5408\u56f3\u3068\u3057\u3066\u975e\u5e38\u306b\u91cd\u8981\u3067\u3059\u3002CACNA1A\u907a\u4f1d\u5b50\u304c\u4f5c\u308b\u30ab\u30eb\u30b7\u30a6\u30e0\u30c1\u30e3\u30cd\u30eb\uff08Cav2.1\u30c1\u30e3\u30cd\u30eb\uff09\u306f\u3001\u7279\u306b\u5c0f\u8133\u3084\u3001\u795e\u7d4c\u7d30\u80de\u540c\u58eb\u304c\u3064\u306a\u304c\u308b\u30b7\u30ca\u30d7\u30b9\u3068\u3044\u3046\u5834\u6240\u3067\u3001\u3053\u306e\u6249\u306e\u5f79\u5272\u3092\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%A9%9F%E8%83%BD%E7%8D%B2%E5%BE%97%E5%9E%8B%E3%81%A8%E6%A9%9F%E8%83%BD%E5%96%AA%E5%A4%B1%E5%9E%8B\"><\/span><strong>\u6a5f\u80fd\u7372\u5f97\u578b\u3068\u6a5f\u80fd\u55aa\u5931\u578b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>CACNA1A\u907a\u4f1d\u5b50\u306b\u5909\u7570\u304c\u8d77\u304d\u308b\u3068\u3001\u3053\u306e\u30ab\u30eb\u30b7\u30a6\u30e0\u30c1\u30e3\u30cd\u30eb\u306e\u50cd\u304d\u306b\u5927\u304d\u304f\u5206\u3051\u3066\u4e8c\u3064\u306e\u30d1\u30bf\u30fc\u30f3\u306e\u7570\u5e38\u304c\u751f\u3058\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4e00\u3064\u306f\u6a5f\u80fd\u7372\u5f97\u578b\u5909\u7570\u3067\u3059\u3002\u30c1\u30e3\u30cd\u30eb\u306e\u6249\u304c\u958b\u304d\u3084\u3059\u304f\u306a\u308a\u3059\u304e\u3066\u3001\u30ab\u30eb\u30b7\u30a6\u30e0\u304c\u7d30\u80de\u306e\u4e2d\u306b\u904e\u5270\u306b\u5165\u308a\u8fbc\u3093\u3067\u3057\u307e\u3044\u307e\u3059\u3002\u3082\u3046\u4e00\u3064\u306f\u6a5f\u80fd\u55aa\u5931\u578b\u5909\u7570\u3067\u3059\u3002\u30c1\u30e3\u30cd\u30eb\u306e\u6249\u304c\u958b\u304d\u306b\u304f\u304f\u306a\u3063\u305f\u308a\u3001\u30c1\u30e3\u30cd\u30eb\u81ea\u4f53\u304c\u6e1b\u3063\u305f\u308a\u3057\u3066\u3001\u30ab\u30eb\u30b7\u30a6\u30e0\u304c\u5341\u5206\u306b\u5165\u3063\u3066\u3053\u306a\u304f\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>DEE42\u3067\u306f\u3001\u3069\u3061\u3089\u306e\u30d1\u30bf\u30fc\u30f3\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u3044\u305a\u308c\u306b\u3057\u3066\u3082\u795e\u7d4c\u7d30\u80de\u5185\u306e\u30ab\u30eb\u30b7\u30a6\u30e0\u6fc3\u5ea6\u306e\u8abf\u7bc0\u304c\u3046\u307e\u304f\u3044\u304b\u306a\u304f\u306a\u308b\u70b9\u306f\u5171\u901a\u3057\u3066\u3044\u307e\u3059\u3002\u795e\u7d4c\u306e\u8208\u596e\u3084\u60c5\u5831\u4f1d\u9054\u306e\u30d0\u30e9\u30f3\u30b9\u304c\u5d29\u308c\u308b\u3053\u3068\u3067\u3001\u795e\u7d4c\u304c\u904e\u5270\u306b\u8208\u596e\u3057\u3066\u3066\u3093\u304b\u3093\u767a\u4f5c\u304c\u8d77\u304d\u305f\u308a\u3001\u4f1d\u9054\u304c\u3046\u307e\u304f\u3044\u304b\u305a\u767a\u9054\u304c\u9045\u308c\u305f\u308a\u3059\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u5c0f\u8133\u306e\u795e\u7d4c\u7d30\u80de\u306f\u3053\u306e\u8abf\u7bc0\u7570\u5e38\u306b\u7279\u306b\u5f31\u3044\u305f\u3081\u3001\u7d30\u80de\u304c\u30c0\u30e1\u30fc\u30b8\u3092\u53d7\u3051\u3066\u5c0f\u8133\u840e\u7e2e\u304c\u9032\u307f\u3001\u904b\u52d5\u5931\u8abf\u304c\u51fa\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%AE%E5%BD%A2%E5%BC%8F%EF%BC%9A%E3%81%BB%E3%81%A8%E3%82%93%E3%81%A9%E3%81%AF%E3%83%87%E3%83%8E%E3%83%9C%E5%A4%89%E7%95%B0\"><\/span><strong>\u907a\u4f1d\u306e\u5f62\u5f0f\uff1a\u307b\u3068\u3093\u3069\u306f\u30c7\u30ce\u30dc\u5909\u7570<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>CACNA1A\u907a\u4f1d\u5b50\u95a2\u9023\u306e\u75c5\u6c17\u306f\u5e38\u67d3\u8272\u4f53\u9855\u6027\u907a\u4f1d\u306e\u5f62\u5f0f\u3092\u3068\u308a\u307e\u3059\u3002\u3057\u304b\u3057\u3001\u591a\u304f\u306e\u3054\u5bb6\u65cf\u304c\u5fc3\u914d\u3055\u308c\u308b\u300c\u89aa\u304b\u3089\u907a\u4f1d\u3057\u305f\u306e\u304b\u300d\u3068\u3044\u3046\u70b9\u306b\u3064\u3044\u3066\u3001\u91cd\u75c7\u578b\u3067\u3042\u308bDEE42\u306e\u307b\u3068\u3093\u3069\u306e\u30b1\u30fc\u30b9\u306f\u3001\u65b0\u751f\u7a81\u7136\u5909\u7570\uff08\u30c7\u30ce\u30dc\u5909\u7570\uff09\u306b\u3088\u308b\u3082\u306e\u3060\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\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\u306bCACNA1A\u907a\u4f1d\u5b50\u306b\u5909\u5316\u304c\u8d77\u304d\u305f\u3053\u3068\u3092\u610f\u5473\u3057\u307e\u3059\u3002\u3054\u4e21\u89aa\u306e\u3069\u3061\u3089\u304b\u306e\u305b\u3044\u3067\u907a\u4f1d\u3057\u305f\u308f\u3051\u3067\u306f\u306a\u304f\u3001\u598a\u5a20\u4e2d\u306e\u98df\u4e8b\u3084\u304a\u85ac\u3001\u30b9\u30c8\u30ec\u30b9\u304c\u539f\u56e0\u3067\u8d77\u304d\u308b\u3082\u306e\u3067\u3082\u3042\u308a\u307e\u305b\u3093\u3002\u8ab0\u306b\u3067\u3082\u8d77\u3053\u308a\u3046\u308b\u3001\u5076\u7136\u306e\u73fe\u8c61\u3067\u3059\u3002<\/p>\n\n\n<!--nipt_mono-->\r\n<div class=\"nipt-mono\">\r\n    <div class=\"nipt-mono-btn\">\r\n        <a href=\"\/nipt\/nipt-mono\/\">\r\n            <img decoding=\"async\" loading=\"lazy\" src=\"\/nipt\/wp-content\/uploads\/2026\/03\/NIPT-MONO.webp\" alt=\"NIPT-MONO\u3067\u8abf\u3079\u3089\u308c\u307e\u3059\">\r\n         <\/a>\r\n    <\/div>\r\n<\/div>\r\n\r\n<style>\r\n.nipt-mono {\r\n    text-align: center; \/* \u89aa\u8981\u7d20\u3067\u6a2a\u4e2d\u592e *\/\r\n}\r\n.nipt-mono a img {\r\n    display: inline-block; \/* \u753b\u50cf\u3092\u30a4\u30f3\u30e9\u30a4\u30f3\u30d6\u30ed\u30c3\u30af\u5316\u3057\u3066 text-align \u306b\u53cd\u6620 *\/\r\n    width: 333px;\r\n}\r\n<\/style>\r\n<!--\/nipt_mono-->\r\n\r\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"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>DEE42\u306e\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\u5b50\u691c\u67fb\u3092\u7d44\u307f\u5408\u308f\u305b\u3066\u884c\u308f\u308c\u307e\u3059\u3002<\/strong>\u305d\u308c\u305e\u308c\u306e\u691c\u67fb\u3067\u4f55\u3092\u78ba\u8a8d\u3059\u308b\u306e\u304b\u3001\u9806\u306b\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=\"%E8%84%B3%E6%B3%A2%E6%A4%9C%E6%9F%BB\"><\/span><strong>\u8133\u6ce2\u691c\u67fb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3066\u3093\u304b\u3093\u767a\u4f5c\u306e\u8a3a\u65ad\u3084\u8133\u306e\u6d3b\u52d5\u72b6\u614b\u3092\u8abf\u3079\u308b\u305f\u3081\u306b\u4e0d\u53ef\u6b20\u306a\u691c\u67fb\u3067\u3059\u3002DEE42\u306e\u304a\u5b50\u3055\u3093\u306e\u8133\u6ce2\u3067\u306f\u3001\u3066\u3093\u304b\u3093\u6027\u306e\u7a81\u767a\u6ce2\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=\"%E7%94%BB%E5%83%8F%E6%A4%9C%E6%9F%BB%EF%BC%88MRI%EF%BC%89\"><\/span><strong>\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\u3002DEE42\u3092\u7591\u3046\u4e0a\u3067\u3001\u7279\u306b\u5c0f\u8133\u306e\u840e\u7e2e\u304c\u3042\u308b\u304b\u3069\u3046\u304b\u306e\u78ba\u8a8d\u306f\u91cd\u8981\u3067\u3059\u3002\u767a\u75c7\u521d\u671f\u306b\u306f\u76ee\u7acb\u305f\u306a\u304f\u3066\u3082\u3001\u7d4c\u904e\u3068\u3068\u3082\u306b\u5c0f\u8133\u304c\u5c0f\u3055\u304f\u306a\u3063\u3066\u3044\u304f\u69d8\u5b50\u304c\u78ba\u8a8d\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u306e\u6240\u898b\u306f\u3001CACNA1A\u907a\u4f1d\u5b50\u306e\u7570\u5e38\u3092\u7591\u3046\u5927\u304d\u306a\u624b\u304c\u304b\u308a\u306b\u306a\u308a\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%A6%E7%9A%84%E6%A4%9C%E6%9F%BB\"><\/span><strong>\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\u4e00\u822c\u7684\u3067\u3059\u3002<\/p>\n\n\n\n<p>DEE42\u306f\u75c7\u72b6\u3060\u3051\u3067\u306f\u4ed6\u306e\u767a\u9054\u969c\u5bb3\u3084\u3066\u3093\u304b\u3093\u75c7\u5019\u7fa4\u3068\u533a\u5225\u304c\u3064\u304b\u306a\u3044\u3053\u3068\u304c\u591a\u3044\u305f\u3081\u3001\u3053\u306e\u7db2\u7f85\u7684\u306a\u907a\u4f1d\u5b50\u691c\u67fb\u3067\u521d\u3081\u3066CACNA1A\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\u7c73\u56fd\u56fd\u7acb\u533b\u5b66\u56f3\u66f8\u9928\u306eNIH Genetic Testing Registry\u306b\u306f\u3001DEE42\u306b\u95a2\u3059\u308b\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u304c\u8907\u6570\u767b\u9332\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u6b20\u5931\u30fb\u91cd\u8907\u5206\u6790\u3001\u6a19\u7684\u5909\u7570\u5206\u6790\u3001\u30b3\u30fc\u30c9\u9818\u57df\u5168\u4f53\u306e\u914d\u5217\u89e3\u6790\u306a\u3069\u306e\u65b9\u6cd5\u304c\u7528\u3044\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\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\u3001CACNA1A\u907a\u4f1d\u5b50\u306e\u5909\u5316\u305d\u306e\u3082\u306e\u3092\u4fee\u5fa9\u3059\u308b\u6839\u672c\u6cbb\u7642\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\u3092\u7d44\u307f\u5408\u308f\u305b\u308b\u3053\u3068\u3067\u3001\u304a\u5b50\u3055\u3093\u306e\u82e6\u75db\u3092\u548c\u3089\u3052\u3001\u751f\u6d3b\u306e\u8cea\u3092\u9ad8\u3081\u308b\u3053\u3068\u306f\u5341\u5206\u306b\u53ef\u80fd\u3067\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%AE%E6%B2%BB%E7%99%82\"><\/span><strong>\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\u3002CACNA1A\u5909\u7570\u306b\u5bfe\u3059\u308b\u7279\u52b9\u85ac\u306f\u307e\u3060\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u304c\u3001\u30d0\u30eb\u30d7\u30ed\u9178\u3001\u30ec\u30d9\u30c1\u30e9\u30bb\u30bf\u30e0\u3001\u30e9\u30e2\u30c8\u30ea\u30ae\u30f3\u3001\u30c8\u30d4\u30e9\u30de\u30fc\u30c8\u3001\u30af\u30ed\u30d0\u30b6\u30e0\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\u8907\u6570\u3092\u7d44\u307f\u5408\u308f\u305b\u305f\u308a\u3001\u96e3\u6cbb\u6027\u306e\u5834\u5408\u306f\u30b1\u30c8\u30f3\u98df\u7642\u6cd5\u304c\u691c\u8a0e\u3055\u308c\u305f\u308a\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u5909\u7570\u306e\u30bf\u30a4\u30d7\u306b\u3088\u3063\u3066\u306f\u3001\u30a2\u30bb\u30bf\u30be\u30e9\u30df\u30c9\u306a\u3069\u306e\u304a\u85ac\u304c\u52b9\u679c\u3092\u793a\u3059\u53ef\u80fd\u6027\u304c\u3042\u308b\u3068\u3044\u3046\u7814\u7a76\u3082\u3042\u308a\u3001\u5c02\u9580\u533b\u306f\u304a\u5b50\u3055\u3093\u306e\u907a\u4f1d\u5b50\u5909\u7570\u306e\u8a73\u7d30\u3092\u898b\u306a\u304c\u3089\u6cbb\u7642\u65b9\u91dd\u3092\u691c\u8a0e\u3057\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%E6%94%AF%E6%8F%B4%E3%81%A8%E7%99%82%E8%82%B2\"><\/span><strong>\u767a\u9054\u652f\u63f4\u3068\u7642\u80b2<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u65e9\u671f\u304b\u3089\u306e\u7642\u80b2\u304c\u3001\u304a\u5b50\u3055\u3093\u306e\u6210\u9577\u3068\u751f\u6d3b\u306e\u5b89\u5b9a\u306b\u3068\u3063\u3066\u975e\u5e38\u306b\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7406\u5b66\u7642\u6cd5\uff08PT\uff09:<\/strong> \u4f53\u306e\u67d4\u3089\u304b\u3055\u3084\u904b\u52d5\u5931\u8abf\u306b\u30a2\u30d7\u30ed\u30fc\u30c1\u3057\u3001\u59ff\u52e2\u3092\u4fdd\u3064\u7df4\u7fd2\u3084\u4f53\u5e79\u3092\u935b\u3048\u308b\u904a\u3073\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09:<\/strong> \u624b\u5148\u306e\u611f\u899a\u3084\u30d0\u30e9\u30f3\u30b9\u611f\u899a\u3092\u990a\u3044\u3001\u98df\u4e8b\u3084\u7740\u66ff\u3048\u306e\u4ecb\u52a9\u65b9\u6cd5\u306a\u3069\u751f\u6d3b\u52d5\u4f5c\u306e\u5de5\u592b\u3092\u5b66\u3073\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09:<\/strong> \u8a00\u8449\u306e\u7406\u89e3\u3092\u4fc3\u3059\u3068\u3068\u3082\u306b\u3001\u7d75\u30ab\u30fc\u30c9\u3084\u30b8\u30a7\u30b9\u30c1\u30e3\u30fc\u306a\u3069\u306e\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u624b\u6bb5\u3092\u63a2\u308a\u307e\u3059\u3002\u6442\u98df\u56a5\u4e0b\u306e\u8a13\u7df4\u3082\u4e26\u884c\u3057\u3066\u884c\u308f\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u6b69\u884c\u304c\u96e3\u3057\u3044\u5834\u5408\u306f\u3001\u5ea7\u4f4d\u4fdd\u6301\u88c5\u7f6e\u3084\u8eca\u6905\u5b50\u3001\u8db3\u5e95\u677f\u306a\u3069\u3001\u304a\u5b50\u3055\u3093\u306e\u4f53\u306b\u5408\u3063\u305f\u798f\u7949\u7528\u5177\u3092\u9078\u3076\u969b\u306b\u3082\u5c02\u9580\u7684\u306a\u30a2\u30c9\u30d0\u30a4\u30b9\u3092\u53d7\u3051\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%97%A5%E5%B8%B8%E7%94%9F%E6%B4%BB%E3%81%AE%E3%82%B1%E3%82%A2%E3%81%A8%E5%AE%89%E5%85%A8%E5%AF%BE%E7%AD%96\"><\/span><strong>\u65e5\u5e38\u751f\u6d3b\u306e\u30b1\u30a2\u3068\u5b89\u5168\u5bfe\u7b56<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u904b\u52d5\u5931\u8abf\u304c\u3042\u308b\u304a\u5b50\u3055\u3093\u306f\u3001\u6b69\u304f\u3068\u304d\u3084\u904a\u3076\u3068\u304d\u306b\u3088\u304f\u8ee2\u3093\u3067\u3057\u307e\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u5bb6\u306e\u4e2d\u306e\u6bb5\u5dee\u3092\u306a\u304f\u3059\u3001\u89d2\u306b\u30af\u30c3\u30b7\u30e7\u30f3\u30ac\u30fc\u30c9\u3092\u3064\u3051\u308b\u3001\u5916\u51fa\u6642\u306f\u4fdd\u8b77\u5e3d\u3092\u7740\u7528\u3059\u308b\u3068\u3044\u3063\u305f\u5bfe\u7b56\u3067\u3001\u5927\u304d\u306a\u602a\u6211\u3092\u9632\u3052\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u56a5\u4e0b\u969c\u5bb3\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u8aa4\u56a5\u6027\u80ba\u708e\u3092\u9632\u3050\u305f\u3081\u306b\u98df\u4e8b\u306b\u3068\u308d\u307f\u3092\u3064\u3051\u305f\u308a\u3001\u4e00\u53e3\u306e\u91cf\u3092\u8abf\u6574\u3057\u305f\u308a\u3057\u307e\u3059\u3002\u5341\u5206\u306b\u6804\u990a\u304c\u6442\u308c\u306a\u3044\u5834\u5408\u306f\u3001\u7d4c\u7ba1\u6804\u990a\u3092\u691c\u8a0e\u3057\u4f53\u529b\u306e\u7dad\u6301\u3092\u512a\u5148\u3057\u307e\u3059\u3002\u773c\u632f\u3084\u8996\u529b\u306e\u554f\u984c\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u5b9a\u671f\u7684\u306b\u773c\u79d1\u3092\u53d7\u8a3a\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"7_%E5%AE%B6%E6%97%8F%E3%81%AE%E3%82%B5%E3%83%9D%E3%83%BC%E3%83%88%E3%81%A8%E7%9B%B8%E8%AB%87%E7%AA%93%E5%8F%A3\"><\/span><strong>7. \u5bb6\u65cf\u306e\u30b5\u30dd\u30fc\u30c8\u3068\u76f8\u8ac7\u7a93\u53e3<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u5e0c\u5c11\u75be\u60a3\u3067\u3042\u308bDEE42\u306f\u3001\u8eab\u8fd1\u306b\u540c\u3058\u7d4c\u9a13\u3092\u3057\u305f\u4eba\u304c\u898b\u3064\u304b\u308a\u306b\u304f\u304f\u3001\u3054\u5bb6\u65cf\u304c\u5b64\u7acb\u3092\u611f\u3058\u3084\u3059\u3044\u75c5\u6c17\u3067\u3059\u3002<\/strong>\u4e00\u4eba\u3067\u62b1\u3048\u8fbc\u307e\u305a\u3001\u8907\u6570\u306e\u7a93\u53e3\u3092\u7d44\u307f\u5408\u308f\u305b\u3066\u76f8\u8ac7\u3059\u308b\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u4e3b\u6cbb\u533b\u3084\u81e8\u5e8a\u907a\u4f1d\u5c02\u9580\u533b\u306b\u3088\u308b\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u306f\u3001\u8a3a\u65ad\u306e\u610f\u5473\u3084\u4eca\u5f8c\u306e\u898b\u901a\u3057\u3001\u6b21\u306e\u304a\u5b50\u69d8\u3078\u306e\u907a\u4f1d\u30ea\u30b9\u30af\u306b\u3064\u3044\u3066\u3001\u3054\u5bb6\u65cf\u306e\u72b6\u6cc1\u306b\u5408\u308f\u305b\u305f\u8aac\u660e\u3092\u53d7\u3051\u3089\u308c\u307e\u3059\u3002\u3066\u3093\u304b\u3093\u3084\u767a\u9054\u652f\u63f4\u306b\u95a2\u3059\u308b\u793e\u4f1a\u8cc7\u6e90\u306b\u3064\u3044\u3066\u306f\u3001\u304a\u4f4f\u307e\u3044\u306e\u81ea\u6cbb\u4f53\u306e\u4fdd\u5065\u30bb\u30f3\u30bf\u30fc\u3084\u3001\u96e3\u75c5\u76f8\u8ac7\u652f\u63f4\u30bb\u30f3\u30bf\u30fc\u3082\u7a93\u53e3\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5b9f\u969b\u306b\u76f8\u8ac7\u306e\u5834\u3067\u306f\u300c\u540c\u3058\u75c5\u540d\u306e\u4eba\u306b\u4f1a\u3063\u305f\u3053\u3068\u304c\u306a\u3044\u300d\u3068\u3044\u3046\u58f0\u3092\u4f55\u5ea6\u3082\u4f3a\u3044\u307e\u3059\u3002CACNA1A\u907a\u4f1d\u5b50\u306b\u95a2\u3059\u308b\u56fd\u5185\u306e\u60a3\u8005\u4f1a\u30fb\u5bb6\u65cf\u4f1a\u306f\u9650\u3089\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u6d77\u5916\u306b\u306fCACNA1A Foundation\u306e\u3088\u3046\u306a\u5f53\u4e8b\u8005\u56e3\u4f53\u304c\u3042\u308a\u3001\u75be\u60a3\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u5168\u4f53\u306b\u3064\u3044\u3066\u306e\u60c5\u5831\u767a\u4fe1\u3092\u884c\u3063\u3066\u3044\u307e\u3059\u3002\u65e5\u672c\u8a9e\u306e\u4e00\u6b21\u60c5\u5831\u304c\u5c11\u306a\u3044\u75c5\u6c17\u3060\u304b\u3089\u3053\u305d\u3001\u516c\u7684\u6a5f\u95a2\u306e\u60c5\u5831\u3068\u3001\u4e3b\u6cbb\u533b\u3092\u901a\u3058\u305f\u5c02\u9580\u5bb6\u30cd\u30c3\u30c8\u30ef\u30fc\u30af\u306e\u4e21\u65b9\u3092\u983c\u3063\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/eiee6-dravet-syndrome-guide\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u65e9\u671f\u4e73\u5150\u3066\u3093\u304b\u3093\u6027\u8133\u75c76\u578b\uff08Early Infantile Epileptic Encephalopathy 6: EIEE6\uff09 <\/div>\n          <div class=\"blog-card-excerpt\">\u65e9\u671f\u4e73\u5150\u3066\u3093\u304b\u3093\u6027\u8133\u75c76\u578b\uff08EIEE6\uff09\u3068\u8a3a\u65ad\u3055\u308c\u305f\u3054\u5bb6\u65cf\u3078\u3002SCN1A\u907a\u4f1d\u5b50\u306e\u5909\u5316\u306b\u3088\u308a\u4e73\u5150\u671f\u306b\u767a\u75c7\u3059\u308b\u3053\u306e\u75c5\u6c17\u306f\u3001\u4e00\u822c\u7684\u306b\u30c9\u30e9\u30d9\u75c7\u5019\u7fa4\u3068...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<p>\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\u306b\u306f\u3001CACNA1A\u4ee5\u5916\u306b\u3082\u539f\u56e0\u907a\u4f1d\u5b50\u306e\u7570\u306a\u308b\u8907\u6570\u306e\u30bf\u30a4\u30d7\u304c\u3042\u308a\u307e\u3059\u3002\u30ca\u30c8\u30ea\u30a6\u30e0\u30c1\u30e3\u30cd\u30eb\u907a\u4f1d\u5b50SCN1A\u306e\u5909\u7570\u3067\u8d77\u3053\u308b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/eiee6-dravet-syndrome-guide\/\">\u30c9\u30e9\u30d9\u75c7\u5019\u7fa4\uff08\u65e9\u671f\u4e73\u5150\u3066\u3093\u304b\u3093\u6027\u8133\u75c76\u578b\uff09<\/a>\u306e\u3088\u3046\u306b\u3001\u540c\u3058\u300c\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\u300d\u3067\u3082\u539f\u56e0\u907a\u4f1d\u5b50\u3054\u3068\u306b\u767a\u4f5c\u306e\u30bf\u30a4\u30d7\u3084\u5408\u4f75\u3057\u3084\u3059\u3044\u75c7\u72b6\u304c\u7570\u306a\u308a\u307e\u3059\u3002\u6c17\u306b\u306a\u308b\u65b9\u306f\u3042\u308f\u305b\u3066\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"8_%E5%A6%8A%E5%A8%A0%E4%B8%AD%E3%81%AE%E6%A4%9C%E6%9F%BB%E3%83%BBNIPT%E3%81%A8%E3%81%AE%E9%96%A2%E4%BF%82\"><\/span><strong>8. \u598a\u5a20\u4e2d\u306e\u691c\u67fb\u30fbNIPT\u3068\u306e\u95a2\u4fc2<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>DEE42\u306f\u3001CACNA1A\u907a\u4f1d\u5b501\u3064\u306e\u5909\u5316\u306b\u3088\u3063\u3066\u8d77\u3053\u308b<strong>\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u3067\u3059\u3002<\/strong>NIPT\u306e\u57fa\u672c\u691c\u67fb\u3067\u8abf\u3079\u308b21\u30fb18\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/patau-syndrome\/\">13\u30c8\u30ea\u30bd\u30df\u30fc<\/a>\u306a\u3069\u306e\u67d3\u8272\u4f53\u6570\u306e\u7570\u5e38\u3068\u306f\u3001\u691c\u51fa\u306e\u3057\u304f\u307f\u304c\u307e\u3063\u305f\u304f\u7570\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u307e\u3067\u5bfe\u8c61\u7bc4\u56f2\u3092\u5e83\u3052\u305f\u62e1\u5927NIPT\u306e\u30d7\u30e9\u30f3\u3082\u3042\u308a\u307e\u3059\u3002\u30d7\u30e9\u30f3\u306b\u3088\u3063\u3066\u306f\u3001CACNA1A\u907a\u4f1d\u5b50\u3092\u542b\u3080\u6570\u767e\u7a2e\u985e\u306e\u907a\u4f1d\u5b50\u3092\u5bfe\u8c61\u3068\u3059\u308b\u691c\u67fb\u9805\u76ee\u304c\u7528\u610f\u3055\u308c\u3066\u3044\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u5bfe\u5fdc\u3059\u308b\u75be\u60a3\u306e\u7bc4\u56f2\u3084\u89e3\u6790\u611f\u5ea6\u306f\u691c\u67fb\u65bd\u8a2d\u30fb\u30d7\u30e9\u30f3\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u3054\u81ea\u8eab\u304c\u691c\u8a0e\u3057\u3066\u3044\u308b\u691c\u67fb\u30d7\u30e9\u30f3\u304cCACNA1A\u95a2\u9023\u306e\u7570\u5e38\u307e\u3067\u5bfe\u8c61\u306b\u542b\u3080\u304b\u3069\u3046\u304b\u306f\u3001\u691c\u67fb\u3092\u53d7\u3051\u308b\u65bd\u8a2d\u306b\u76f4\u63a5\u78ba\u8a8d\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/strong>\u3082\u3046\u4e00\u3064\u77e5\u3063\u3066\u304a\u3044\u3066\u3044\u305f\u3060\u304d\u305f\u3044\u306e\u306f\u3001<strong>NIPT\u306f\u3042\u304f\u307e\u3067\u975e\u78ba\u5b9a\u7684\u306a\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u691c\u67fb\u3060\u3068\u3044\u3046\u70b9\u3067\u3059\u3002<\/strong>\u967d\u6027\u6240\u898b\u3084\u6c17\u306b\u306a\u308b\u7d50\u679c\u304c\u51fa\u305f\u5834\u5408\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u306a\u3069\u306e\u78ba\u5b9a\u691c\u67fb\u3067\u8a3a\u65ad\u3092\u56fa\u3081\u308b\u6d41\u308c\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4eca\u56de\u3001\u3053\u306e\u75c5\u6c17\u306b\u95a2\u3059\u308b\u56fd\u5185\u306e\u5b9f\u4f53\u9a13\u306e\u6295\u7a3f\u3092X\uff08\u65e7Twitter\uff09\u3067\u63a2\u3057\u307e\u3057\u305f\u304c\u3001\u76f4\u8fd1\u306e\u6295\u7a3f\u306f\u898b\u5f53\u305f\u308a\u307e\u305b\u3093\u3067\u3057\u305f\u3002CACNA1A\u3068\u3044\u3046\u907a\u4f1d\u5b50\u540d\u81ea\u4f53\u3092\u691c\u7d22\u3059\u308b\u3068\u7247\u982d\u75db\u3084\u5931\u8abf\u75c7\u306e\u60c5\u5831\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u3001DEE42\u3068\u3044\u3046\u4e73\u5150\u671f\u767a\u75c7\u306e\u30bf\u30a4\u30d7\u306b\u7d5e\u3063\u305f\u4e00\u6b21\u60c5\u5831\u306f\u3055\u3089\u306b\u9650\u3089\u308c\u307e\u3059\u3002\u672c\u8a18\u4e8b\u3067\u306f\u4ee3\u308f\u308a\u306b\u3001GRJ\uff08\u65e5\u672c\u8a9e\u7248GeneReviews\uff09\u30fb\u96e3\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc\u30fbNIH Genetic Testing Registry\u30fbMedlinePlus Genetics\u306a\u3069\u56fd\u5185\u5916\u306e\u516c\u7684\u30fb\u5b66\u8853\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:\/\/www.hiro-clinic.or.jp\/nipt\/plan-finder\/\" target=\"_blank\" rel=\"noopener\">\u30d7\u30e9\u30f3\u8a3a\u65ad\u3067\u81ea\u5206\u306b\u5408\u3046\u691c\u67fb\u3092\u63a2\u3059<\/a><\/div>\n<\/div>\n\n\n\n    <a href=\"\/nipt\/developmental-epileptic-encephalopathy-27-grin2b-guide\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u767a\u9054\u6027\u304a\u3088\u3073\u3066\u3093\u304b\u3093\u6027\u8133\u75c727\u578b\uff08Developmental and epileptic encephalopathy 27\uff09 <\/div>\n          <div class=\"blog-card-excerpt\">\u767a\u9054\u6027\u304a\u3088\u3073\u3066\u3093\u304b\u3093\u6027\u8133\u75c727\u578b\uff08DEE27\uff09\u3068\u8a3a\u65ad\u3055\u308c\u305f\u3054\u5bb6\u65cf\u3078\u3002GRIN2B\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308b\u3066\u3093\u304b\u3093\u767a\u4f5c\u3001\u91cd\u5ea6\u306e\u767a\u9054\u9045\u6ede\u3001\u4e0d\u968f\u610f\u904b\u52d5\u3001...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n    <a href=\"\/nipt\/developmental-epileptic-encephalopathy-17-gnao1-guide\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u767a\u9054\u6027\u304a\u3088\u3073\u3066\u3093\u304b\u3093\u6027\u8133\u75c717\u578b\uff08Developmental and epileptic encephalopathy 17\uff09 <\/div>\n          <div class=\"blog-card-excerpt\">\u767a\u9054\u6027\u304a\u3088\u3073\u3066\u3093\u304b\u3093\u6027\u8133\u75c717\u578b\uff08DEE17\uff09\u3068\u8a3a\u65ad\u3055\u308c\u305f\u3054\u5bb6\u65cf\u3078\u3002GNAO1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308b\u3066\u3093\u304b\u3093\u767a\u4f5c\u3001\u91cd\u5ea6\u306e\u767a\u9054\u9045\u6ede\u3001\u7279\u5fb4\u7684\u306a\u4e0d\u968f\u610f...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<p>\u767a\u9054\u6027\u304a\u3088\u3073\u3066\u3093\u304b\u3093\u6027\u8133\u75c7\u306f\u3001\u539f\u56e0\u3068\u306a\u308b\u907a\u4f1d\u5b50\u3054\u3068\u306b\u756a\u53f7\u304c\u3064\u3051\u3089\u308c\u305f\u30b7\u30ea\u30fc\u30ba\u3068\u3057\u3066\u5831\u544a\u304c\u7d9a\u3044\u3066\u3044\u307e\u3059\u3002NMDA\u53d7\u5bb9\u4f53\u306b\u95a2\u308f\u308b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-27-grin2b-guide\/\">27\u578b\uff08GRIN2B\u907a\u4f1d\u5b50\uff09<\/a>\u3084\u3001G\u30bf\u30f3\u30d1\u30af\u8cea\u30b7\u30b0\u30ca\u30eb\u4f1d\u9054\u306b\u95a2\u308f\u308b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-17-gnao1-guide\/\">17\u578b\uff08GNAO1\u907a\u4f1d\u5b50\uff09<\/a>\u306a\u3069\u3001\u539f\u56e0\u907a\u4f1d\u5b50\u304c\u7570\u306a\u308c\u3070\u75c7\u72b6\u306e\u51fa\u65b9\u3084\u6cbb\u7642\u306e\u8003\u3048\u65b9\u3082\u5909\u308f\u308a\u307e\u3059\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/developmental-epileptic-encephalopathy-6b-nondravet-guide\/\">6B\u578b\uff08\u975e\u30c9\u30e9\u30d9\u578b\uff09<\/a>\u3068\u5408\u308f\u305b\u3066\u3001\u4ed6\u306e\u30bf\u30a4\u30d7\u3068\u306e\u9055\u3044\u3092\u77e5\u308a\u305f\u3044\u65b9\u306f\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%BE%E3%81%A8%E3%82%81%EF%BC%9A%E3%81%94%E5%AE%B6%E6%97%8F%E3%81%B8%E3%81%AE%E3%83%A1%E3%83%83%E3%82%BB%E3%83%BC%E3%82%B8\"><\/span><strong>\u307e\u3068\u3081\uff1a\u3054\u5bb6\u65cf\u3078\u306e\u30e1\u30c3\u30bb\u30fc\u30b8<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>DEE42\u306f\u3001CACNA1A\u907a\u4f1d\u5b50\u306e\u5909\u5316\u306b\u3088\u308a\u3001\u795e\u7d4c\u7d30\u80de\u306e\u30ab\u30eb\u30b7\u30a6\u30e0\u30c1\u30e3\u30cd\u30eb\u306b\u7570\u5e38\u304c\u751f\u3058\u3001\u8133\u306e\u904e\u5270\u8208\u596e\u3068\u5c0f\u8133\u6a5f\u80fd\u3078\u306e\u5f71\u97ff\u304c\u7d44\u307f\u5408\u308f\u3055\u3063\u3066\u8d77\u3053\u308b\u5148\u5929\u6027\u306e\u75be\u60a3\u3067\u3059\u3002\u540c\u3058\u907a\u4f1d\u5b50\u304c\u3001\u7247\u982d\u75db\u3084\u6210\u4eba\u671f\u306e\u5931\u8abf\u75c7\u3068\u3044\u3063\u305f\u3001\u307e\u3063\u305f\u304f\u9055\u3046\u9854\u3092\u6301\u3064\u75c5\u6c17\u306e\u539f\u56e0\u306b\u3082\u306a\u308b\u70b9\u304c\u3001\u3053\u306e\u907a\u4f1d\u5b50\u306e\u5927\u304d\u306a\u7279\u5fb4\u3068\u3044\u3048\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4e73\u5150\u671f\u306e\u3066\u3093\u304b\u3093\u3001\u91cd\u5ea6\u306e\u767a\u9054\u9045\u6ede\u3001\u904b\u52d5\u5931\u8abf\u3001\u773c\u632f\u3001\u5c0f\u8133\u840e\u7e2e\u306a\u3069\u304c\u4e3b\u306a\u7279\u5fb4\u3067\u3059\u3002\u3066\u3093\u304b\u3093\u306f\u96e3\u6cbb\u6027\u3067\u3042\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u69d8\u3005\u306a\u304a\u85ac\u306e\u8abf\u6574\u3067\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3092\u76ee\u6307\u305b\u307e\u3059\u3057\u3001\u5909\u7570\u306e\u30bf\u30a4\u30d7\u306b\u3088\u3063\u3066\u6cbb\u7642\u6226\u7565\u304c\u5909\u308f\u308b\u53ef\u80fd\u6027\u3082\u3042\u308a\u307e\u3059\u3002\u539f\u56e0\u306e\u591a\u304f\u306f\u7a81\u7136\u5909\u7570\u306b\u3088\u308b\u3082\u306e\u3067\u3001\u3054\u4e21\u89aa\u306e\u305b\u3044\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\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\u8ee2\u5012\u4e88\u9632\u3001\u6804\u990a\u7ba1\u7406\u307e\u3067\u3001\u5168\u8eab\u3092\u30c8\u30fc\u30bf\u30eb\u3067\u30b1\u30a2\u3059\u308b\u8996\u70b9\u304c\u6b20\u304b\u305b\u307e\u305b\u3093\u3002\u907a\u4f1d\u5b50\u8a3a\u65ad\u3068\u3044\u3046\u300c\u540d\u524d\u300d\u304c\u3064\u304f\u3053\u3068\u3067\u3001\u304a\u5b50\u3055\u3093\u306e\u7279\u6027\u306b\u5408\u3063\u305f\u533b\u7642\u3068\u30b1\u30a2\u306e\u8a08\u753b\u3092\u7acb\u3066\u3084\u3059\u304f\u306a\u308a\u307e\u3059\u3002\u307e\u305a\u306f\u4e3b\u6cbb\u533b\u3084\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u3078\u306e\u76f8\u8ac7\u304b\u3089\u59cb\u3081\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:\/\/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\/line-registration\/\" target=\"_blank\" rel=\"noopener\">LINE\u3067\u7121\u6599\u76f8\u8ac7\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<!--nipt_mono-->\r\n<div class=\"nipt-mono\">\r\n    <div class=\"nipt-mono-btn\">\r\n        <a href=\"\/nipt\/nipt-mono\/\">\r\n            <img decoding=\"async\" loading=\"lazy\" src=\"\/nipt\/wp-content\/uploads\/2026\/03\/NIPT-MONO.webp\" alt=\"NIPT-MONO\u3067\u8abf\u3079\u3089\u308c\u307e\u3059\">\r\n         <\/a>\r\n    <\/div>\r\n<\/div>\r\n\r\n<style>\r\n.nipt-mono {\r\n    text-align: center; \/* \u89aa\u8981\u7d20\u3067\u6a2a\u4e2d\u592e *\/\r\n}\r\n.nipt-mono a img {\r\n    display: inline-block; \/* \u753b\u50cf\u3092\u30a4\u30f3\u30e9\u30a4\u30f3\u30d6\u30ed\u30c3\u30af\u5316\u3057\u3066 text-align \u306b\u53cd\u6620 *\/\r\n    width: 333px;\r\n}\r\n<\/style>\r\n<!--\/nipt_mono-->\r\n\r\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%82%88%E3%81%8F%E3%81%82%E3%82%8B%E8%B3%AA%E5%95%8F\"><\/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=\"DEE42%E3%81%A8%E3%81%AF%E3%80%81%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>DEE42\u3068\u306f\u3001\u3069\u306e\u3088\u3046\u306a\u75c5\u6c17\u3067\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>19\u756a\u67d3\u8272\u4f53\u4e0a\u306eCACNA1A\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308a\u3001\u4e73\u5150\u671f\u65e9\u671f\u304b\u3089\u3066\u3093\u304b\u3093\u767a\u4f5c\u3068\u91cd\u5ea6\u306e\u767a\u9054\u9045\u6ede\u3001\u904b\u52d5\u5931\u8abf\u304c\u73fe\u308c\u308b\u5e0c\u5c11\u306a\u795e\u7d4c\u75be\u60a3\u3067\u3059\u3002\u767a\u9054\u6027\u304a\u3088\u3073\u3066\u3093\u304b\u3093\u6027\u8133\u75c742\u578b\u3068\u3082\u547c\u3070\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"CACNA1A%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AF%E7%89%87%E9%A0%AD%E7%97%9B%E3%81%AE%E5%8E%9F%E5%9B%A0%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%A7%E3%82%82%E3%81%82%E3%82%8B%E3%81%A8%E8%81%9E%E3%81%8D%E3%81%BE%E3%81%97%E3%81%9F%E3%80%82%E9%96%A2%E4%BF%82%E3%81%AF%E3%81%82%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span>CACNA1A\u907a\u4f1d\u5b50\u306f\u7247\u982d\u75db\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u3067\u3082\u3042\u308b\u3068\u805e\u304d\u307e\u3057\u305f\u3002\u95a2\u4fc2\u306f\u3042\u308a\u307e\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u540c\u3058CACNA1A\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3067\u3082\u3001\u5909\u5316\u306e\u7a2e\u985e\u3084\u5834\u6240\u306b\u3088\u3063\u3066\u3001\u5bb6\u65cf\u6027\u7247\u9ebb\u75fa\u6027\u7247\u982d\u75db\u3001\u767a\u4f5c\u6027\u904b\u52d5\u5931\u8abf\u75c72\u578b\u3001\u810a\u9ac4\u5c0f\u8133\u5931\u8abf\u75c76\u578b\u3001DEE42\u3068\u3044\u3046\u7570\u306a\u308b\u75c5\u6c17\u304c\u8d77\u3053\u308a\u307e\u3059\u3002DEE42\u306f\u3053\u306e\u4e2d\u3067\u3082\u4e73\u5150\u671f\u767a\u75c7\u30fb\u96e3\u6cbb\u6027\u3066\u3093\u304b\u3093\u3092\u4f34\u3046\u3001\u3088\u308a\u91cd\u3044\u90e8\u985e\u306e\u30bf\u30a4\u30d7\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%84%8A%E9%AB%84%E5%B0%8F%E8%84%B3%E5%A4%B1%E8%AA%BF%E7%97%876%E5%9E%8B%EF%BC%88SCA6%EF%BC%89%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\"><\/span>\u810a\u9ac4\u5c0f\u8133\u5931\u8abf\u75c76\u578b\uff08SCA6\uff09\u3068\u306f\u3069\u3046\u9055\u3044\u307e\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>SCA6\u306fCACNA1A\u907a\u4f1d\u5b50\u5185\u306eCAG\u3068\u3044\u3046\u914d\u5217\u304c\u7570\u5e38\u306b\u4f38\u3073\u308b\u3053\u3068\u3067\u8d77\u3053\u308a\u3001\u767a\u75c7\u306f\u6210\u4eba\u671f\uff08\u5e73\u574743\u301c52\u6b73\uff09\u3067\u3086\u3063\u304f\u308a\u9032\u884c\u3057\u307e\u3059\u3002\u4e00\u65b9DEE42\u306fCAG\u30ea\u30d4\u30fc\u30c8\u3067\u306f\u306a\u304f\u5225\u306e\u5909\u7570\u304c\u539f\u56e0\u3067\u3001\u4e73\u5150\u671f\u304b\u3089\u96e3\u6cbb\u6027\u3066\u3093\u304b\u3093\u3092\u4f34\u3046\u70b9\u304c\u7570\u306a\u308a\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%AF%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E8%96%AC%E3%81%A7%E6%B2%BB%E7%99%82%E3%81%97%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u3066\u3093\u304b\u3093\u767a\u4f5c\u306f\u3069\u306e\u3088\u3046\u306a\u85ac\u3067\u6cbb\u7642\u3057\u307e\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u30d0\u30eb\u30d7\u30ed\u9178\u3001\u30ec\u30d9\u30c1\u30e9\u30bb\u30bf\u30e0\u3001\u30e9\u30e2\u30c8\u30ea\u30ae\u30f3\u306a\u3069\u306e\u6297\u3066\u3093\u304b\u3093\u85ac\u304c\u4f7f\u308f\u308c\u307e\u3059\u304c\u3001\u96e3\u6cbb\u6027\u3067\u3042\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002\u8907\u6570\u306e\u85ac\u306e\u7d44\u307f\u5408\u308f\u305b\u3084\u30b1\u30c8\u30f3\u98df\u7642\u6cd5\u304c\u691c\u8a0e\u3055\u308c\u308b\u5834\u5408\u3082\u3042\u308a\u3001\u5909\u7570\u306e\u30bf\u30a4\u30d7\u306b\u3088\u3063\u3066\u306f\u30a2\u30bb\u30bf\u30be\u30e9\u30df\u30c9\u306a\u3069\u304c\u52b9\u679c\u3092\u793a\u3059\u53ef\u80fd\u6027\u3082\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=\"%E6%AC%A1%E3%81%AE%E5%AD%90%E3%81%A9%E3%82%82%E3%81%AB%E3%82%82%E5%90%8C%E3%81%98%E7%97%85%E6%B0%97%E3%81%8C%E8%B5%B7%E3%81%93%E3%82%8B%E5%8F%AF%E8%83%BD%E6%80%A7%E3%81%AF%E3%81%82%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u6b21\u306e\u5b50\u3069\u3082\u306b\u3082\u540c\u3058\u75c5\u6c17\u304c\u8d77\u3053\u308b\u53ef\u80fd\u6027\u306f\u3042\u308a\u307e\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>DEE42\u306e\u307b\u3068\u3093\u3069\u306e\u75c7\u4f8b\u306f\u3001\u3054\u4e21\u89aa\u306b\u306f\u539f\u56e0\u304c\u306a\u3044\u65b0\u751f\u7a81\u7136\u5909\u7570\uff08\u30c7\u30ce\u30dc\u5909\u7570\uff09\u306b\u3088\u308b\u3082\u306e\u3067\u3059\u3002\u3054\u4e21\u89aa\u306e\u3069\u3061\u3089\u306e\u305b\u3044\u3067\u3082\u3042\u308a\u307e\u305b\u3093\u3002\u6b21\u306e\u304a\u5b50\u69d8\u3078\u306e\u5177\u4f53\u7684\u306a\u518d\u767a\u30ea\u30b9\u30af\u306f\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u500b\u5225\u306b\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=\"%E8%A8%BA%E6%96%AD%E3%81%AB%E3%81%AF%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E6%A4%9C%E6%9F%BB%E3%81%8C%E5%BF%85%E8%A6%81%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u8a3a\u65ad\u306b\u306f\u3069\u306e\u3088\u3046\u306a\u691c\u67fb\u304c\u5fc5\u8981\u3067\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8133\u6ce2\u691c\u67fb\u3001MRI\u691c\u67fb\uff08\u7279\u306b\u5c0f\u8133\u840e\u7e2e\u306e\u6709\u7121\uff09\u3001\u305d\u3057\u3066\u78ba\u5b9a\u8a3a\u65ad\u306e\u305f\u3081\u306e\u907a\u4f1d\u5b66\u7684\u691c\u67fb\uff08\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u3084\u3066\u3093\u304b\u3093\u95a2\u9023\u907a\u4f1d\u5b50\u30d1\u30cd\u30eb\u691c\u67fb\uff09\u3092\u7d44\u307f\u5408\u308f\u305b\u3066\u8a3a\u65ad\u3057\u307e\u3059\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 class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>21\u30fb18\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/patau-syndrome\/\">13\u30c8\u30ea\u30bd\u30df\u30fc<\/a>\u306a\u3069\u306e\u57fa\u672c\u691c\u67fb\u306e\u5bfe\u8c61\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u307e\u3067\u5bfe\u8c61\u3092\u5e83\u3052\u305f\u62e1\u5927NIPT\u306e\u30d7\u30e9\u30f3\u3067\u306f\u5bfe\u8c61\u306b\u542b\u307e\u308c\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u5bfe\u5fdc\u7bc4\u56f2\u306f\u65bd\u8a2d\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u307e\u3059\u3002\u967d\u6027\u6240\u898b\u304c\u51fa\u305f\u5834\u5408\u306f<a 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rel=\"noopener\">Developmental and epileptic encephalopathy 42\uff5cNIH Genetic Testing 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