{"id":83534,"date":"2024-11-14T14:26:04","date_gmt":"2024-11-14T05:26:04","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=83534"},"modified":"2025-08-12T11:25:16","modified_gmt":"2025-08-12T02:25:16","slug":"9q33-3q34-11-microdeletion-syndrome","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/9q33-3q34-11-microdeletion-syndrome\/","title":{"rendered":"\u65e9\u671f\u4e73\u5150\u3066\u3093\u304b\u3093\u6027\u8133\u75c74\u578b (EIEE4; Early Infantile Epileptic Encephalopathy 4)"},"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>STXBP1\u8133\u75c7\uff08\u3066\u3093\u304b\u3093\u3092\u4f34\u3046\uff09\u306f\u3001\u767a\u9054\u9045\u5ef6\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3001\u7672\u7647\u306a\u3069\u3001\u591a\u69d8\u306a\u795e\u7d4c\u5b66\u7684\u75c7\u72b6\u3092\u5f15\u304d\u8d77\u3053\u3059\u91cd\u7be4\u306a\u75be\u60a3\u3067\u3059\u3002\u3053\u306e\u75be\u60a3\u306e\u7ba1\u7406\u65b9\u6cd5\u306b\u306f\u3001\u767a\u4f5c\u306e\u6cbb\u7642\u3001\u904b\u52d5\u969c\u5bb3\u3078\u306e\u30a2\u30d7\u30ed\u30fc\u30c1\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306a\u3069\u304c\u542b\u307e\u308c\u307e\u3059\u3002\u8a73\u3057\u3044\u75c7\u72b6\u3084\u8a3a\u65ad\u65b9\u6cd5\u3001\u6cbb\u7642\u6cd5\u306b\u3064\u3044\u3066\u89e3\u8aac\u3057\u307e\u3059\u3002<\/p><\/div>\n\n\n\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_84 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\/9q33-3q34-11-microdeletion-syndrome\/#%E7%97%85%E6%B0%97%E3%81%AE%E5%88%A5%E7%A7%B0\" >\u75c5\u6c17\u306e\u5225\u79f0<\/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\/9q33-3q34-11-microdeletion-syndrome\/#%E7%96%BE%E6%82%A3%E6%A6%82%E8%A6%819q3411\" >\u75be\u60a3\u6982\u89819q34.11<\/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\/9q33-3q34-11-microdeletion-syndrome\/#%E7%97%85%E5%9B%A0%E3%81%A8%E8%A8%BA%E6%96%AD%E3%81%AE%E6%96%B9%E6%B3%95\" >\u75c5\u56e0\u3068\u8a3a\u65ad\u306e\u65b9\u6cd5<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/9q33-3q34-11-microdeletion-syndrome\/#%E7%96%BE%E6%82%A3%E3%81%AE%E7%97%87%E7%8A%B6%E3%81%A8%E7%AE%A1%E7%90%86%E6%96%B9%E6%B3%95\" >\u75be\u60a3\u306e\u75c7\u72b6\u3068\u7ba1\u7406\u65b9\u6cd5<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/9q33-3q34-11-microdeletion-syndrome\/#%E3%82%82%E3%81%A3%E3%81%A8%E7%9F%A5%E3%82%8A%E3%81%9F%E3%81%84%E6%96%B9%E3%81%B8\" >\u3082\u3063\u3068\u77e5\u308a\u305f\u3044\u65b9\u3078<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/9q33-3q34-11-microdeletion-syndrome\/#%E5%BC%95%E7%94%A8%E6%96%87%E7%8C%AE\" >\u5f15\u7528\u6587\u732e<\/a><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%97%85%E6%B0%97%E3%81%AE%E5%88%A5%E7%A7%B0\"><\/span>\u75c5\u6c17\u306e\u5225\u79f0<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/early-nipt-august-only\/\">Early<\/a>-Infantile Epileptic Encephalopathy 4 (EIEE4)<\/li>\n\n\n\n<li><em>STXBP1<\/em> Epileptic Encephalopathy<\/li>\n\n\n\n<li><em>STXBP1<\/em>-Related Developmental and Epileptic Encephalopathy (<em>STXBP1<\/em>-DEE)<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%96%BE%E6%82%A3%E6%A6%82%E8%A6%819q3411\"><\/span>\u75be\u60a3\u6982\u89819q34.11<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"20\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/3c02c4be56785cdcb62ca329c74741b5-1024x20.png\" alt=\"9q34.11\" class=\"wp-image-89996\"\/><\/figure><\/div>\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"20\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/bcae43acc70a06805a01d8a60c1afd52-1024x20.png\" alt=\"9q34.11\u3000STXBP1\u3000EIEE4\" class=\"wp-image-90004\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>STXBP1\u8133\u75c7\uff08\u3066\u3093\u304b\u3093\u3092\u4f34\u3046\uff09\u306f\u3001\u8133\u3068\u795e\u7d4c\u7cfb\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u7a00\u3067\u91cd\u7be4\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002\u3053\u306e\u75be\u60a3\u306f\u3001\u75c7\u72b6\u304c\u591a\u5c90\u306b\u308f\u305f\u308b\u3053\u3068\u304c\u7279\u5fb4\u3067\u3001\u91cd\u75c7\u5ea6\u306f\u500b\u3005\u306b\u7570\u306a\u308a\u307e\u3059\u3002\u901a\u5e38\u3001\u5e7c\u5c11\u671f\u304b\u3089\u75c7\u72b6\u304c\u73fe\u308c\u3001\u767a\u9054\u9045\u5ef6\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3001\u3066\u3093\u304b\u3093\uff08\u983b\u7e41\u306a\u767a\u4f5c\uff09\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002\u767a\u4f5c\u306f\u901a\u5e38\u3001\u4e73\u5150\u671f\u306b\u59cb\u307e\u308a\u3001\u5178\u578b\u7684\u306a\u767a\u75c7\u6642\u671f\u306f\u751f\u5f8c6\u9031\u9593\u3054\u308d\u3067\u3059\u304c\u3001\u767a\u4f5c\u304c\u59cb\u307e\u308b\u6642\u671f\u306f\u751f\u307e\u308c\u305f\u3070\u304b\u308a\u306e\u8d64\u3061\u3083\u3093\u304b\u308913\u6b73\u307e\u3067\u5e45\u5e83\u3044\u3067\u3059\u3002\u6700\u3082\u4e00\u822c\u7684\u306a\u767a\u4f5c\u306e\u7a2e\u985e\u306f\u3001\u3066\u3093\u304b\u3093\u6027\u30b9\u30d1\u30ba\u30e0\u3067\u3001\u4f53\u304c\u786c\u76f4\u3057\u3001\u4e0d\u968f\u610f\u306b\u3051\u3044\u308c\u3093\u3057\u307e\u3059\u3002\u3057\u304b\u3057\u3001\u4ed6\u306b\u3082\u5168\u8eab\u6027\u5f37\u76f4\u6027\u3051\u3044\u308c\u3093\uff08\u4f53\u5168\u4f53\u306e\u3051\u3044\u308c\u3093\uff09\u3001\u90e8\u5206\u7684\u3051\u3044\u308c\u3093\uff08\u4f53\u306e\u4e00\u90e8\u3060\u3051\u306b\u8d77\u3053\u308b\uff09\u3001\u30c8\u30cb\u30c3\u30af\u3051\u3044\u308c\u3093\uff08\u7b4b\u8089\u306e\u786c\u76f4\uff09\u3001\u30df\u30aa\u30af\u30ed\u30fc\u30cc\u30b9\u3051\u3044\u308c\u3093\uff08\u6025\u306a\u7b4b\u8089\u306e\u3051\u3044\u308c\u3093\uff09\u3001\u30a2\u30c8\u30cb\u30a2\u3051\u3044\u308c\u3093\uff08\u7b4b\u8089\u306e\u6025\u6fc0\u306a\u5f1b\u7de9\uff09\u3001\u6b20\u795e\u3051\u3044\u308c\u3093\uff08\u77ed\u3044\u9593\u306e\u307c\u3093\u3084\u308a\u3057\u305f\u72b6\u614b\uff09\u3001\u7126\u70b9\u6027\u3051\u3044\u308c\u3093\uff08\u4f53\u306e\u4e00\u90e8\u3067\u306e\u767a\u4f5c\uff09\u306a\u3069\u3001\u3055\u307e\u3056\u307e\u306a\u767a\u4f5c\u304c\u767a\u751f\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306e\u8a3a\u65ad\u306b\u304a\u3044\u3066\u91cd\u8981\u306a\u691c\u67fb\u306f\u3001\u8133\u6ce2\uff08EEG\uff09\u3067\u3059\u3002\u8133\u6ce2\u691c\u67fb\u3067\u306f\u3001STXBP1\u8133\u75c7\u306e\u60a3\u8005\u306b\u7279\u6709\u306e\u7570\u5e38\u306a\u30d1\u30bf\u30fc\u30f3\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u4f8b\u3048\u3070\u7126\u70b9\u6027\u3066\u3093\u304b\u3093\u6d3b\u52d5\u3001\u30d0\u30fc\u30b9\u30c8\u6291\u5236\uff08\u9ad8\u3044\u8133\u6ce2\u306e\u6d3b\u52d5\u3068\u7121\u6d3b\u52d5\u304c\u4ea4\u4e92\u306b\u73fe\u308c\u308b\u30d1\u30bf\u30fc\u30f3\uff09\u3001\u30d2\u30d7\u30b5\u30ea\u30ba\u30df\u30a2\uff08\u4e73\u5150\u3051\u3044\u308c\u3093\u306b\u898b\u3089\u308c\u308b\u7570\u5e38\u306a\u8133\u6ce2\uff09\u3001\u307e\u305f\u306f\u5168\u4f53\u7684\u306a\u30b9\u30d1\u30a4\u30af\uff06\u30b9\u30ed\u30fc\u6ce2\u30d1\u30bf\u30fc\u30f3\u304c\u78ba\u8a8d\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/glycine-encephalopathy-amt-overview\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u975e\u30b1\u30c8\u30f3\u6027\u9ad8\u30b0\u30ea\u30b7\u30f3\u8840\u75c7\uff08\u30b0\u30ea\u30b7\u30f3\u8133\u75c7\uff09\uff3bAMT\u95a2\u9023\u578b\uff3d <\/div>\n          <div class=\"blog-card-excerpt\">\u30b0\u30ea\u30b7\u30f3\u8133\u75c7\uff08\u975e\u30b1\u30c8\u30f3\u6027\u9ad8\u30b0\u30ea\u30b7\u30f3\u8840\u75c7\uff09\u306f\u3001\u30b0\u30ea\u30b7\u30f3\u3068\u3044\u3046\u30a2\u30df\u30ce\u9178\u304c\u4f53\u306b\u305f\u307e\u308a\u3001\u3051\u3044\u308c\u3093\u3084\u767a\u9054\u306e\u9045\u308c\u3092\u5f15\u304d\u8d77\u3053\u3059\u307e\u308c\u306a\u75c5\u6c17\u3067\u3059\u3002\u539f\u56e0\u30fb\u75c7\u72b6\u30fb...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<div style=\"height:20px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\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\/2024\/11\/2307693_s.jpg\" alt=\"\u3066\u3093\u304b\u3093\" class=\"wp-image-87481\"\/><\/figure><\/div>\n\n\n<div style=\"height:20px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u767a\u4f5c\u306b\u52a0\u3048\u3066\u3001\u3053\u306e\u75be\u60a3\u306e\u60a3\u8005\u306f\u91cd\u5ea6\u306e\u904b\u52d5\u969c\u5bb3\u3092\u4f34\u3046\u3053\u3068\u304c\u3088\u304f\u3042\u308a\u307e\u3059\u3002\u4f8b\u3048\u3070\u3001\u904b\u52d5\u5931\u8abf\uff08\u7b4b\u8089\u306e\u5354\u8abf\u304c\u53d6\u308c\u306a\u3044\u305f\u3081\u3001\u52d5\u304d\u304c\u4e0d\u5b89\u5b9a\u306b\u306a\u308b\u3053\u3068\uff09\u3001\u4f4e\u7dca\u5f35\uff08\u7b4b\u8089\u306e\u5f35\u308a\u304c\u5f31\u304f\u3001\u59ff\u52e2\u3092\u4fdd\u3064\u3053\u3068\u3084\u52d5\u304f\u3053\u3068\u304c\u96e3\u3057\u304f\u306a\u308b\u3053\u3068\uff09\u3001\u30b8\u30b9\u30c8\u30cb\u30a2\uff08\u4e0d\u968f\u610f\u306e\u7b4b\u8089\u306e\u53ce\u7e2e\uff09\u3001\u9707\u3048\uff08\u4f53\u306e\u9707\u3048\uff09\u3001\u75d9\u6027\uff08\u7b4b\u8089\u306e\u786c\u76f4\uff09\u3001\u304a\u3088\u3073\u30b8\u30b9\u30ad\u30cd\u30b8\u30a2\uff08\u7570\u5e38\u306a\u3001\u5236\u5fa1\u3067\u304d\u306a\u3044\u52d5\u304d\uff09\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u904b\u52d5\u969c\u5bb3\u306f\u65e5\u5e38\u751f\u6d3b\u306b\u5927\u304d\u306a\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002\u3055\u3089\u306b\u3001\u4e00\u90e8\u306e\u60a3\u8005\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u75c7<\/a>\u306e\u7279\u5fb4\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u75c7<\/a>\u69d8\u306e\u884c\u52d5\u3092\u793a\u3059\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u306b\u306f\u3001\u793e\u4f1a\u7684\u306a\u56f0\u96e3\u3084\u53cd\u5fa9\u7684\u306a\u884c\u52d5\u3001\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u306e\u8ab2\u984c\u304c\u542b\u307e\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>STXBP1\u8133\u75c7\u306e\u60a3\u8005\u304c\u5e74\u9f62\u3092\u91cd\u306d\u308b\u3068\u3001\u30d1\u30fc\u30ad\u30f3\u30bd\u30f3\u75c5\u306b\u4f3c\u305f\u75c7\u72b6\u304c\u73fe\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u4f8b\u3048\u3070\u3001\u9707\u3048\u3001\u52d5\u4f5c\u306e\u9045\u308c\uff08\u30d6\u30e9\u30c7\u30a3\u30ad\u30cd\u30b8\u30a2\uff09\u3001\u304a\u3088\u3073\u524d\u981a\u90e8\u50be\u659c\uff08\u9996\u304c\u524d\u306b\u50be\u304f\uff09\u306a\u3069\u3067\u3059\u3002\u52a0\u3048\u3066\u3001\u6442\u98df\u306e\u554f\u984c\u304c\u591a\u304f\u898b\u3089\u308c\u3001\u3053\u308c\u304c\u7dcf\u5408\u7684\u306a\u30b1\u30a2\u3084\u6804\u990a\u7ba1\u7406\u3092\u8907\u96d1\u306b\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:20px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"426\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/4211919_s.jpg\" alt=\"\u98df\u3079\u3055\u305b\u308b\" class=\"wp-image-87500\"\/><\/figure><\/div>\n\n\n<div style=\"height:20px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u8133\u306e\u753b\u50cf\u8a3a\u65ad\u3067\u306f\u3001\u76ae\u8cea\u840e\u7e2e\uff08\u8133\u306e\u5916\u5c64\u306e\u7e2e\u5c0f\uff09\u3084\u4f4e\u9ac4\u9798\u5316\uff08\u795e\u7d4c\u7dda\u7dad\u3092\u4fdd\u8b77\u3059\u308b\u9ac4\u9798\u306e\u672a\u767a\u9054\uff09\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u72b6\u614b\u306fSTXBP1\u8133\u75c7\u306b\u304a\u3051\u308b\u795e\u7d4c\u5b66\u7684\u306a\u554f\u984c\u306b\u5bc4\u4e0e\u3057\u3066\u304a\u308a\u3001\u3053\u306e\u75be\u60a3\u306e\u5b50\u3069\u3082\u305f\u3061\u306f\u3057\u3070\u3057\u3070\u91cd\u5927\u306a\u767a\u9054\u9045\u5ef6\u3092\u4f34\u3044\u307e\u3059\u3002\u4f8b\u3048\u3070\u3001\u982d\u306e\u52d5\u304d\u306e\u5236\u5fa1\u306e\u6b20\u5982\u3001\u6b69\u884c\u306e\u4e0d\u53ef\u80fd\u3001\u56db\u80a2\u9ebb\u75fa\uff08\u56db\u80a2\u3059\u3079\u3066\u304c\u52d5\u304b\u305b\u306a\u304f\u306a\u308b\u3053\u3068\uff09\u3001\u307e\u305f\u306f\u6975\u7aef\u306b\u9045\u308c\u305f\u8a00\u8a9e\u767a\u9054\u3084\u8a00\u8449\u304c\u5168\u304f\u8a71\u305b\u306a\u3044\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>STXBP1\u8133\u75c7\u306f\u7a00\u306a\u75be\u60a3\u3067\u3059\u304c\u3001\u4e16\u754c\u4e2d\u3067500\u4f8b\u4ee5\u4e0a\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u30c7\u30f3\u30de\u30fc\u30af\u3067\u306f\u3001\u7814\u7a76\u306b\u3088\u308b\u3068\u3001\u767a\u75c7\u7387\u306f1:91,862\u4eba\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u307e\u305f\u3001\u3053\u306e\u75be\u60a3\u306f\u767a\u9054\u6027\u3066\u3093\u304b\u3093\u8133\u75c7\uff08\u767a\u9054\u306e\u9045\u308c\u3068\u983b\u7e41\u306a\u767a\u4f5c\u3092\u4f34\u3046\u8133\u306e\u969c\u5bb3\uff09\u306e\u539f\u56e0\u306e\u4e2d\u3067\u3082\u6bd4\u8f03\u7684\u591a\u3044\u3082\u306e\u306e\u4e00\u3064\u3068\u3057\u3066\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:20px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\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\/2024\/11\/3551522_s.jpg\" alt=\"\u306a\u308b\u307b\u3069\u306a\u306e\u3067\u3044\u3064\u3082\u3072\u3089\u304c\u306a\u3067\u66f8\u304b\u308c\u3066\u3044\u307e\u3059\u306d\" class=\"wp-image-90010\"\/><\/figure><\/div>\n\n\n<div style=\"height:20px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u3088\u308a\u91cd\u75c7\u306e\u30b1\u30fc\u30b9\u3067\u306f\u3001\u3053\u306e\u75be\u60a3\u306f\u767a\u9054\u6027\u304a\u3088\u3073\u3066\u3093\u304b\u3093\u8133\u75c7-4\uff08DEE4\uff09\u3068\u5206\u985e\u3055\u308c\u307e\u3059\u3002DEE4\u3067\u306f\u3001\u4e73\u5150\u671f\u65e9\u671f\u306b\u5f37\u76f4\u6027\u3051\u3044\u308c\u3093\u304c\u59cb\u307e\u308a\u3001\u767a\u4f5c\u306e\u983b\u5ea6\u304c\u5897\u3048\u3001\u96e3\u6cbb\u6027\uff08\u85ac\u3067\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3067\u304d\u306a\u3044\uff09\u3068\u306a\u308a\u307e\u3059\u3002\u6700\u3082\u91cd\u5ea6\u306e\u75c7\u4f8b\u3067\u306f\u3001\u767a\u9054\u969c\u5bb3\u304c\u6975\u3081\u3066\u6df1\u523b\u3067\u3001\u982d\u306e\u52d5\u304d\u306e\u5236\u5fa1\u304c\u3067\u304d\u305a\u3001\u6b69\u884c\u304c\u3067\u304d\u305a\u3001\u56db\u80a2\u9ebb\u75fa\u3084\u8a00\u8449\u3092\u5168\u304f\u8a71\u305b\u306a\u3044\u3001\u3042\u308b\u3044\u306f\u975e\u5e38\u306b\u9650\u3089\u308c\u305f\u8a00\u8449\u3060\u3051\u306e\u72b6\u614b\u306b\u306a\u308a\u307e\u3059\u3002\u8133\u306e\u753b\u50cf\u8a3a\u65ad\u3067\u76ae\u8cea\u840e\u7e2e\u3084\u9ac4\u9798\u306e\u672a\u767a\u9054\u304c\u898b\u3089\u308c\u3001\u8133\u6ce2\u7d50\u679c\u306f\u30d0\u30fc\u30b9\u30c8\u6291\u5236\u30d1\u30bf\u30fc\u30f3\u3084\u30d2\u30d7\u30b5\u30ea\u30ba\u30df\u30a2\u3092\u793a\u3059\u3053\u3068\u304c\u3042\u308a\u3001\u3053\u308c\u3089\u306f\u305d\u308c\u305e\u308c\u30aa\u30bf\u30cf\u30e9\u75c7\u5019\u7fa4\u3084\u30a6\u30a8\u30b9\u30c8\u75c7\u5019\u7fa4\u306e\u81e8\u5e8a\u8a3a\u65ad\u3068\u4e00\u81f4\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>STXBP1\u8133\u75c7\u306e\u4e88\u5f8c\u306f\u500b\u3005\u306b\u7570\u306a\u308a\u307e\u3059\u304c\u3001\u4e00\u822c\u7684\u306b\u306f\u91cd\u5927\u306a\u767a\u9054\u7684\u304a\u3088\u3073\u795e\u7d4c\u5b66\u7684\u306a\u8ab2\u984c\u304c\u4f34\u3044\u3001\u591a\u304f\u306e\u60a3\u8005\u306f\u4e00\u751f\u6daf\u306b\u308f\u305f\u308b\u30b1\u30a2\u3068\u30b5\u30dd\u30fc\u30c8\u3092\u5fc5\u8981\u3068\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u598a\u5a20\u4e2d\u306e\u30ea\u30b9\u30af\u7ba1\u7406\u306b<br \/>\nNIPT\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p>&nbsp;<\/p>\n<\/div>\n<\/div>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%97%85%E5%9B%A0%E3%81%A8%E8%A8%BA%E6%96%AD%E3%81%AE%E6%96%B9%E6%B3%95\"><\/span>\u75c5\u56e0\u3068\u8a3a\u65ad\u306e\u65b9\u6cd5<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u65e9\u671f\u4e73\u5150\u671f\u7672\u7647\u6027\u8133\u75c7\uff08EIEE4\uff09\u306f\u3001\u901a\u5e38\u3001\u751f\u547d\u521d\u671f\u306b\u73fe\u308c\u308b\u91cd\u5ea6\u306e\u795e\u7d4c\u5b66\u7684\u969c\u5bb3\u3067\u3001\u767a\u9054\u9045\u5ef6\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3001\u983b\u7e41\u306a\u767a\u4f5c\uff08\u7672\u7647\uff09\u306a\u3069\u3001\u3055\u307e\u3056\u307e\u306a\u795e\u7d4c\u5b66\u7684\u304a\u3088\u3073\u767a\u9054\u7684\u306a\u554f\u984c\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002EIEE4\u306f\u3055\u307e\u3056\u307e\u306a\u539f\u56e0\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u7279\u306b\u8133\u306e\u69cb\u9020\u7684\u7570\u5e38\u3084\u4ee3\u8b1d\u7570\u5e38\u304c\u95a2\u4fc2\u3057\u3066\u3044\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u308c\u3089\u306e\u7570\u5e38\u306f\u3001\u8133\u306e\u767a\u9054\u3084\u6a5f\u80fd\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u3001\u75be\u60a3\u306e\u75c7\u72b6\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002\u4f8b\u3048\u3070\u3001\u30b7\u30c8\u30af\u30ed\u30e0C\u30aa\u30ad\u30b7\u30c0\u30fc\u30bc\u6b20\u640d\u75c7\u3084\u30ab\u30eb\u30cb\u30c1\u30f3\u30d1\u30eb\u30df\u30c8\u30a4\u30eb\u8ee2\u9001\u9175\u7d20II\u6b20\u640d\u75c7\u306f\u3001\u8133\u3067\u306e\u30a8\u30cd\u30eb\u30ae\u30fc\u751f\u7523\u306b\u652f\u969c\u3092\u304d\u305f\u3057\u3001EIEE4\u306e\u75c7\u72b6\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002\u307e\u305f\u3001\u30dd\u30ec\u30f3\u30bb\u30d5\u30a1\u30ea\u30fc\uff08\u8133\u5185\u306b\u56a2\u80de\u3084\u7a7a\u6d1e\u304c\u3067\u304d\u308b\u7a00\u306a\u75be\u60a3\uff09\u3084\u534a\u5074\u5de8\u5927\u8133\u75c7\uff08\u8133\u306e\u7247\u5074\u304c\u7570\u5e38\u306b\u5927\u304d\u304f\u306a\u308b\u72b6\u614b\uff09\u3068\u3044\u3063\u305f\u7279\u5b9a\u306e\u8133\u306e\u5947\u5f62\u3082\u3053\u306e\u75be\u60a3\u306b\u95a2\u9023\u3057\u3066\u304a\u308a\u3001\u3053\u308c\u3089\u304c\u907a\u4f1d\u7684\u304b\u3069\u3046\u304b\u306f\u5834\u5408\u306b\u3088\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:23px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\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\/2024\/11\/50702_s.jpg\" alt=\"\u30d9\u30a4\u30d3\u30fc\u3058\u3083\u3093\u3051\u3093\uff1a\u3050\" class=\"wp-image-87629\"\/><\/figure><\/div>\n\n\n<div style=\"height:23px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>EIEE4\u306e\u6700\u3082\u3088\u304f\u77e5\u3089\u308c\u3066\u3044\u308b\u539f\u56e0\u306e\u4e00\u3064\u306f\u3001STXBP1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3067\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306f\u30019\u756a\u67d3\u8272\u4f53\uff089q34.1\uff09\u306b\u4f4d\u7f6e\u3057\u3066\u304a\u308a\u3001\u795e\u7d4c\u7cfb\u306e\u6b63\u5e38\u306a\u6a5f\u80fd\u306b\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3059syntaxin-binding protein 1\uff08STXBP1\uff09\u3068\u3044\u3046\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u30b3\u30fc\u30c9\u3057\u3066\u3044\u307e\u3059\u3002STXBP1\u306f\u795e\u7d4c\u4f1d\u9054\u7269\u8cea\u306e\u653e\u51fa\u306b\u304a\u3044\u3066\u91cd\u8981\u3067\u3001\u795e\u7d4c\u7d30\u80de\u9593\u3067\u306e\u60c5\u5831\u4f1d\u9054\u3092\u52a9\u3051\u308b\u5316\u5b66\u7269\u8cea\uff08\u795e\u7d4c\u4f1d\u9054\u7269\u8cea\uff09\u3092\u7d30\u80de\u9593\u3067\u9001\u308a\u51fa\u3059\u5f79\u5272\u3092\u679c\u305f\u3057\u307e\u3059\u3002STXBP1\u306f\u3001\u30b7\u30ca\u30d7\u30b9\u5c0f\u80de\uff08\u795e\u7d4c\u4f1d\u9054\u7269\u8cea\u3092\u5165\u308c\u308b\u5c0f\u3055\u306a\u5bb9\u5668\uff09\u304c\u795e\u7d4c\u7d30\u80de\u819c\u306b\u7d50\u3073\u3064\u304d\u3001\u3053\u308c\u3092\u653e\u51fa\u3059\u308b\u904e\u7a0b\u3092\u52a9\u3051\u307e\u3059\u3002\u3053\u306e\u30d7\u30ed\u30bb\u30b9\u306f\u3001\u795e\u7d4c\u7d30\u80de\u540c\u58eb\u304c\u52b9\u679c\u7684\u306b\u901a\u4fe1\u3059\u308b\u305f\u3081\u306b\u4e0d\u53ef\u6b20\u3067\u3059\u3002STXBP1\u907a\u4f1d\u5b50\u304c\u5909\u7570\u3059\u308b\u3068\u3001\u3053\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u304c\u6b63\u5e38\u306b\u50cd\u304b\u305a\u3001\u8133\u5185\u3067\u8208\u596e\u6027\u4fe1\u53f7\uff08\u795e\u7d4c\u7d30\u80de\u3092\u6d3b\u6027\u5316\u3059\u308b\u4fe1\u53f7\uff09\u3068\u6291\u5236\u6027\u4fe1\u53f7\uff08\u904e\u5270\u306a\u6d3b\u6027\u5316\u3092\u9632\u3050\u4fe1\u53f7\uff09\u306e\u30d0\u30e9\u30f3\u30b9\u304c\u5d29\u308c\u307e\u3059\u3002\u3053\u306e\u4e0d\u5747\u8861\u304c\u3001EIEE4\u3067\u898b\u3089\u308c\u308b\u767a\u4f5c\u3084\u4ed6\u306e\u795e\u7d4c\u5b66\u7684\u75c7\u72b6\u306e\u4e3b\u306a\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:23px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"480\" src=\"\/nipt\/wp-content\/uploads\/2025\/01\/25493238_s-edited.jpg\" alt=\"\u795e\u7d4c\u7d30\u80de\" class=\"wp-image-88908\"\/><\/figure><\/div>\n\n\n<div style=\"height:23px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>STXBP1\u306f\u3001SEC1\u30d5\u30a1\u30df\u30ea\u30fc\u3068\u547c\u3070\u308c\u308b\u30bf\u30f3\u30d1\u30af\u8cea\u7fa4\u306b\u5c5e\u3057\u3066\u304a\u308a\u3001\u3053\u308c\u3089\u306f\u795e\u7d4c\u4f1d\u9054\u7269\u8cea\u3092\u653e\u51fa\u3059\u308b\u305f\u3081\u306e\u5c0f\u80de\u8f38\u9001\u306b\u95a2\u4e0e\u3057\u3066\u3044\u307e\u3059\u3002STXBP1\u306e\u5909\u7570\u306f\u3001\u3053\u306e\u904e\u7a0b\u3092\u969c\u5bb3\u3057\u3001\u7279\u306bGABA\u4f5c\u52d5\u6027\u30a4\u30f3\u30bf\u30fc\u30cb\u30e5\u30fc\u30ed\u30f3\uff08\u795e\u7d4c\u6d3b\u52d5\u3092\u8abf\u6574\u3059\u308b\u305f\u3081\u306b\u6291\u5236\u6027\u306e\u795e\u7d4c\u4f1d\u9054\u7269\u8cea\u3067\u3042\u308bGABA\u3092\u5206\u6ccc\u3059\u308b\u795e\u7d4c\u7d30\u80de\uff09\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u307e\u3059\u3002\u3053\u306e\u969c\u5bb3\u306b\u3088\u308a\u3001\u8133\u5185\u3067\u795e\u7d4c\u7d30\u80de\u304c\u5236\u5fa1\u3055\u308c\u305a\u306b\u767a\u706b\u3057\u3001\u767a\u4f5c\u304c\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002\u3053\u308c\u306b\u3088\u308a\u3001STXBP1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u95a2\u9023\u3059\u308b\u3055\u307e\u3056\u307e\u306a\u795e\u7d4c\u5b66\u7684\u75c7\u72b6\u304c\u73fe\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>STXBP1\u907a\u4f1d\u5b50\u306f\u3001\u8133\u5185\u3067\u8208\u596e\u6027\u4fe1\u53f7\u3068\u6291\u5236\u6027\u4fe1\u53f7\u306e\u30d0\u30e9\u30f3\u30b9\u3092\u4fdd\u3064\u305f\u3081\u306b\u91cd\u8981\u3067\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306f\u3001\u91cd\u5ea6\u306e\u7672\u7647\u3001\u767a\u9054\u9045\u5ef6\u3001\u8a8d\u77e5\u969c\u5bb3\u3001\u904b\u52d5\u969c\u5bb3\uff08\u9707\u3048\u3001\u904b\u52d5\u5931\u8abf\u3001\u7b4b\u8089\u306e\u7570\u5e38\u53ce\u7e2e\u306a\u3069\uff09\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u75c7\u72b6\u306e\u91cd\u3055\u306f\u3001\u5177\u4f53\u7684\u306a\u5909\u7570\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u3001\u4e00\u90e8\u306e\u500b\u4eba\u3067\u306f\u767a\u9054\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u304c\u3088\u308a\u91cd\u5ea6\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u598a\u5a20\u4e2d\u306e\u30ea\u30b9\u30af\u7ba1\u7406\u306b<br \/>\nNIPT\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p>&nbsp;<\/p>\n<\/div>\n<\/div>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>EIEE4\u306e\u4e3b\u8981\u306a\u30e1\u30ab\u30cb\u30ba\u30e0\u306e\u4e00\u3064\u306f\u30cf\u30d7\u30ed\u4e0d\u5168\u3067\u3059\u3002\u3053\u308c\u306f\u3001STXBP1\u907a\u4f1d\u5b50\u306e\u6b63\u5e38\u306a\u30b3\u30d4\u30fc\u304c1\u3064\u3060\u3051\u3067\u306f\u795e\u7d4c\u6a5f\u80fd\u3092\u6b63\u5e38\u306b\u7dad\u6301\u3059\u308b\u306e\u306b\u5341\u5206\u3067\u306a\u3044\u72b6\u614b\u3092\u6307\u3057\u307e\u3059\u3002\u907a\u4f1d\u5b50\u306e1\u3064\u306e\u30b3\u30d4\u30fc\u306b\u6b20\u9665\u304c\u3042\u308b\u3068\u3001\u795e\u7d4c\u7d30\u80de\u9593\u306e\u901a\u4fe1\u304c\u969c\u5bb3\u3055\u308c\u3001EIEE4\u3067\u898b\u3089\u308c\u308b\u795e\u7d4c\u5b66\u7684\u75c7\u72b6\u304c\u73fe\u308c\u307e\u3059\u3002\u3055\u3089\u306b\u3001\u3044\u304f\u3064\u304b\u306e\u5909\u7570\u306f\u512a\u6027\u30cd\u30ac\u30c6\u30a3\u30d6\u52b9\u679c\u3092\u901a\u3058\u3066\u4f5c\u7528\u3057\u3001\u5065\u5eb7\u306a\u907a\u4f1d\u5b50\u30b3\u30d4\u30fc\u304c\u3042\u3063\u3066\u3082\u6b63\u5e38\u306a\u6a5f\u80fd\u3092\u59a8\u3052\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u7a00\u306b\u3001STXBP1\u907a\u4f1d\u5b50\u306b\u6a5f\u80fd\u7372\u5f97\u5909\u7570\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u3053\u308c\u304c\u75be\u60a3\u3092\u3055\u3089\u306b\u8907\u96d1\u306b\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>STXBP1\u306e\u6a5f\u80fd\u969c\u5bb3\u306f\u3001SNAREopathy\u3068\u547c\u3070\u308c\u308b\u73fe\u8c61\u306b\u95a2\u9023\u3057\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u306f\u3001STXBP1\u306e\u5909\u7570\u306b\u3088\u308b\u30b7\u30ca\u30d7\u30b9\u6a5f\u80fd\u306e\u969c\u5bb3\u304c\u3001\u8133\u5185\u306e\u8208\u596e\u6027\u4fe1\u53f7\uff08\u30b0\u30eb\u30bf\u30df\u30f3\u9178\uff09\u3068\u6291\u5236\u6027\u4fe1\u53f7\uff08GABA\uff09\u306e\u30d0\u30e9\u30f3\u30b9\u3092\u5d29\u3057\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3084\u767a\u4f5c\u3001\u5834\u5408\u306b\u3088\u3063\u3066\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u75c7<\/a>\u69d8\u884c\u52d5\u3092\u5f15\u304d\u8d77\u3053\u3059\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u7814\u7a76\u8005\u305f\u3061\u306f\u3001\u3053\u306e\u30b7\u30ca\u30d7\u30b9\u969c\u5bb3\u304c\u3069\u306e\u3088\u3046\u306b\u3057\u3066\u3053\u306e\u4e0d\u5747\u8861\u3092\u5f15\u304d\u8d77\u3053\u3059\u306e\u304b\u3001\u3044\u304f\u3064\u304b\u306e\u30e1\u30ab\u30cb\u30ba\u30e0\u3092\u63d0\u6848\u3057\u3066\u3044\u307e\u3059\u3002\u4e00\u3064\u306f\u3001STXBP1\u306e\u30cf\u30d7\u30ed\u4e0d\u5168\u304cGABA\u4f5c\u52d5\u6027\u30a4\u30f3\u30bf\u30fc\u30cb\u30e5\u30fc\u30ed\u30f3\u306b\u76f4\u63a5\u5f71\u97ff\u3092\u4e0e\u3048\u3001\u6291\u5236\u304c\u5931\u6557\u3059\u308b\u3068\u3044\u3046\u3082\u306e\u3067\u3059\u3002\u3082\u3046\u4e00\u3064\u306f\u3001\u8208\u596e\u6027\u4f1d\u9054\u306e\u969c\u5bb3\u304c\u30a4\u30f3\u30bf\u30fc\u30cb\u30e5\u30fc\u30ed\u30f3\u306e\u9069\u5207\u306a\u52df\u96c6\u3092\u59a8\u3052\u3001\u8133\u5185\u306e\u540c\u671f\u304c\u3046\u307e\u304f\u3044\u304b\u306a\u304f\u306a\u308b\u3068\u3044\u3046\u3082\u306e\u3067\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\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\/2024\/11\/22458961_s.jpg\" alt=\"\u5929\u79e4\u3000\u5e73\u8861\" class=\"wp-image-90017\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>STXBP1\u306e\u5909\u7570\u306f\u4ed6\u306b\u3082\u9707\u3048\u3084\u75d9\u6027\u56db\u80a2\u9ebb\u75fa\uff08\u56db\u80a2\u5168\u3066\u306e\u9ebb\u75fa\uff09\u3001\u30d1\u30fc\u30ad\u30f3\u30bd\u30f3\u75c7\u72b6\uff08\u9707\u3048\u3084\u7b4b\u8089\u306e\u786c\u76f4\u306a\u3069\uff09\u3092\u5f15\u304d\u8d77\u3053\u3059\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u8133\u306e\u753b\u50cf\u691c\u67fb\u3067\u306f\u3001\u76ae\u8cea\u840e\u7e2e\uff08\u8133\u306e\u5916\u5c64\u306e\u7e2e\u5c0f\uff09\u3084\u4f4e\u9ac4\u9798\u5316\uff08\u795e\u7d4c\u7dda\u7dad\u3092\u4fdd\u8b77\u3059\u308b\u9ac4\u9798\u306e\u672a\u767a\u9054\uff09\u304c\u78ba\u8a8d\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u75c7\u72b6\u306e\u91cd\u75c7\u5ea6\u3084\u7a2e\u985e\u306f\u3001\u907a\u4f1d\u5b50\u306e\u5177\u4f53\u7684\u306a\u5909\u7570\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u3001\u75be\u60a3\u306f\u91cd\u5927\u306a\u767a\u9054\u9045\u5ef6\u3092\u4f34\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u306b\u306f\u982d\u306e\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u306e\u96e3\u3057\u3055\u3001\u6b69\u884c\u80fd\u529b\u306e\u6b20\u5982\u3001\u91cd\u5ea6\u306e\u767a\u8a71\u306e\u9045\u308c\u306a\u3069\u304c\u542b\u307e\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7814\u7a76\u306b\u3088\u308b\u3068\u3001STXBP1\u306e\u5909\u7570\u306f\u3001\u767a\u9054\u9045\u5ef6\u3068\u983b\u7e41\u306a\u767a\u4f5c\u3092\u4f34\u3046\u767a\u9054\u6027\u7672\u7647\u6027\u8133\u75c7\uff08DEE\uff09\u306e\u4e3b\u8981\u306a\u539f\u56e0\u306e\u4e00\u3064\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u6700\u8fd1\u306e\u7814\u7a76\u3067\u306f\u3001STXBP1\u306e\u5909\u7570\u304c\u4e73\u5150\u671f\u767a\u75c7\u306e\u7672\u7647\u306e6%\u3001\u65b0\u751f\u5150\u671f\u767a\u75c7\u306e\u7672\u7647\u6027\u8133\u75c7\u306e10%\u306b\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8981\u7d04\u3059\u308b\u3068\u3001STXBP1\u95a2\u9023\u306e\u75be\u60a3\u306f\u3001STXBP1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u3001\u7672\u7647\u3001\u767a\u9054\u9045\u5ef6\u3001\u904b\u52d5\u6a5f\u80fd\u969c\u5bb3\u306a\u3069\u3001\u3055\u307e\u3056\u307e\u306a\u795e\u7d4c\u5b66\u7684\u75c7\u72b6\u304c\u73fe\u308c\u307e\u3059\u3002\u3053\u306e\u75be\u60a3\u306f\u3001\u30cf\u30d7\u30ed\u4e0d\u5168\u3084\u3001\u7a00\u306b\u512a\u6027\u30cd\u30ac\u30c6\u30a3\u30d6\u52b9\u679c\u3084\u6a5f\u80fd\u7372\u5f97\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u5909\u7570\u306e\u30e1\u30ab\u30cb\u30ba\u30e0\u3092\u5b8c\u5168\u306b\u7406\u89e3\u3059\u308b\u305f\u3081\u306b\u306f\u3055\u3089\u306a\u308b\u7814\u7a76\u304c\u5fc5\u8981\u3067\u3042\u308a\u3001\u8a3a\u65ad\u3084\u6cbb\u7642\u65b9\u6cd5\u306e\u5411\u4e0a\u304c\u6c42\u3081\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"833\" height=\"500\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/chromo9-MeDWMAPUHedUSDYWGAAAAMES.png\" alt=\"chromo9\" class=\"wp-image-89990\"\/><\/figure><\/div>\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u65e9\u671f\u4e73\u5150\u671f\u7672\u7647\u6027\u8133\u75c74\u578b\uff08EIEE4\uff09\u306f\u3001\u81e8\u5e8a\u8a55\u4fa1\u3068\u8133\u6ce2\uff08EEG\uff09\u691c\u67fb\u3092\u901a\u3058\u3066\u8a3a\u65ad\u3055\u308c\u307e\u3059\u3002EIEE4\u306b\u7279\u5fb4\u7684\u306a\u8133\u6ce2\u30d1\u30bf\u30fc\u30f3\u306f\u300c\u6291\u5236\u30d0\u30fc\u30b9\u30c8\u30d1\u30bf\u30fc\u30f3\u300d\u3067\u3001\u3053\u308c\u306f\u9ad8\u632f\u5e45\u306e\u30b9\u30d1\u30a4\u30af\uff08\u6025\u6fc0\u306a\u6ce2\uff09\u3084\u30dd\u30ea\u30b9\u30d1\u30a4\u30af\uff08\u8907\u6570\u306e\u30b9\u30d1\u30a4\u30af\uff09\u304c\u3001\u4f4e\u96fb\u5727\u306e\u57fa\u672c\u7684\u306a\u30ea\u30ba\u30e0\u3068\u4ea4\u4e92\u306b\u73fe\u308c\u308b\u3082\u306e\u3067\u3059\u3002\u3053\u306e\u30d1\u30bf\u30fc\u30f3\u306f\u3001\u899a\u9192\u6642\u3068\u7761\u7720\u6642\u306e\u4e21\u65b9\u3067\u6301\u7d9a\u3057\u307e\u3059\u3002\u307e\u305f\u3001\u8133\u306eMRI\u691c\u67fb\u3067\u8133\u306b\u69cb\u9020\u7684\u306a\u7570\u5e38\u304c\u898b\u3064\u304b\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>EIEE4\u3068\u4f3c\u305f\u75c7\u72b6\u3092\u6301\u3064\u4ed6\u306e\u7672\u7647\u6027\u8133\u75c7\u306b\u306f\u3001\u65e9\u671f\u30df\u30aa\u30af\u30ed\u30fc\u30cc\u30b9\u8133\u75c7\u3084\u30a6\u30a7\u30b9\u30c8\u75c7\u5019\u7fa4\u306a\u3069\u304c\u3042\u308a\u3001\u3053\u308c\u3089\u3092\u8a3a\u65ad\u6642\u306b\u8003\u616e\u3059\u308b\u3053\u3068\u304c\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u907a\u4f1d\u7684\u306a\u539f\u56e0\u304c\u5206\u304b\u3063\u3066\u3044\u308b\u5bb6\u65cf\u3067\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u3092\u53d7\u3051\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u8fd1\u5e74\u3001DNA\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\u6280\u8853\u306e\u9032\u6b69\u306b\u3088\u308a\u3001\u975e\u4fb5\u8972\u7684\u306a<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\uff08<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>\uff09\u304c\u5b89\u5168\u3067\u6709\u52b9\u306a\u65b9\u6cd5\u3068\u3057\u3066\u5e83\u307e\u308a\u307e\u3057\u305f\u3002NIPT\u306f\u6bcd\u4f53\u306e\u8840\u6db2\u306b\u542b\u307e\u308c\u308b\u80ce\u5150\u306eDNA\u3092\u5206\u6790\u3057\u3001\u6bcd\u89aa\u3084\u80ce\u5150\u306b\u30ea\u30b9\u30af\u3092\u4e0e\u3048\u308b\u3053\u3068\u306a\u304f\u7d50\u679c\u3092\u5f97\u308b\u3053\u3068\u304c\u3067\u304d\u308b\u305f\u3081\u3001\u598a\u5a20\u4e2d\u306b\u5b89\u5168\u306a\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3092\u5e0c\u671b\u3059\u308b\u89aa\u306b\u3068\u3063\u3066\u975e\u5e38\u306b\u4eba\u6c17\u304c\u3042\u308a\u307e\u3059\u3002\u5f93\u6765\u306e\u65b9\u6cd5\u3067\u3042\u308b\u51fa\u751f\u524dFISH\uff08\u86cd\u5149 in situ \u30cf\u30a4\u30d6\u30ea\u30c0\u30a4\u30bc\u30fc\u30b7\u30e7\u30f3\uff09\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u30ea\u30b9\u30af\u304c\u9ad8\u304f\u306a\u308b\u305f\u3081\u3001NIPT\u304c\u4e00\u822c\u7684\u306b\u597d\u307e\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>EIEE4\u306e\u591a\u304f\u306e\u75c7\u4f8b\u306f\u65b0\u305f\u306b\u767a\u751f\u3057\u305f\uff08de 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style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"426\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/31295073_s.jpg\" alt=\"\u304a\u3066\u3066\" class=\"wp-image-87378\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u767a\u9054\u6027\u304a\u3088\u3073\u7672\u7647\u6027\u8133\u75c7\u304c\u7591\u308f\u308c\u308b\u5834\u5408\u3001100\u3092\u8d85\u3048\u308b\u907a\u4f1d\u5b50\u304c\u95a2\u9023\u3057\u3066\u3044\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u3053\u308c\u3089\u3082\u9451\u5225\u8a3a\u65ad\u306b\u542b\u3081\u308b\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u3002\u307e\u305f\u3001\u65e9\u671f\u4e73\u5150\u671f\u767a\u75c7\u306e\u7672\u7647\u6027\u8133\u75c7\u3092\u5f15\u304d\u8d77\u3053\u3059\u6cbb\u7642\u53ef\u80fd\u306a\u795e\u7d4c\u4ee3\u8b1d\u75be\u60a3\u3082\u9451\u5225\u8a3a\u65ad\u306b\u52a0\u3048\u308b\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u306b\u306f\u3001\u30d3\u30bf\u30df\u30f3B6\u4f9d\u5b58\u6027\u7672\u7647\uff08ALDH7A1\u3001PNPO\u3001PLPBP\u6b20\u640d\u75c7\uff09\u3001\u30d3\u30aa\u30c1\u30cb\u30c0\u30fc\u30bc\u6b20\u640d\u75c7\u3001\u30b0\u30eb\u30b3\u30fc\u30b9\u30c8\u30e9\u30f3\u30b9\u30dd\u30fc\u30bf\u30fc1\u6b20\u640d\u75c7\u5019\u7fa4\u3001\u30af\u30ec\u30a2\u30c1\u30f3\u6b20\u640d\u75c7\u306a\u3069\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5bb6\u65cf\u8a08\u753b\u3092\u7acb\u3066\u308b\u969b\u306b\u306f\u3001\u598a\u5a20\u524d\u306b\u907a\u4f1d\u7684\u30ea\u30b9\u30af\u3092\u8a55\u4fa1\u3057\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u3084\u7740\u5e8a\u524d\u907a\u4f1d\u5b50\u691c\u67fb\uff08PGT\uff09\u306b\u3064\u3044\u3066\u691c\u8a0e\u3059\u308b\u3053\u3068\u304c\u7406\u60f3\u7684\u3067\u3059\u3002\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306f\u3001\u89aa\u304c\u5c06\u6765\u306e\u5b50\u3069\u3082\u306b\u5bfe\u3059\u308b\u30ea\u30b9\u30af\u3092\u7406\u89e3\u3057\u3001\u9069\u5207\u306a\u751f\u6b96\u9078\u629e\u3092\u884c\u3046\u305f\u3081\u306b\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p>STXBP1\u907a\u4f1d\u5b50\u306e\u75c5\u7684\u5909\u7570\u304c\u78ba\u8a8d\u3055\u308c\u305f\u5834\u5408\u3001EIEE4\u306b\u95a2\u3059\u308b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u3084PGT\u304c\u53ef\u80fd\u306b\u306a\u308a\u307e\u3059\u3002\u3057\u304b\u3057\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u306e\u4f7f\u7528\u306b\u3064\u3044\u3066\u306f\u533b\u7642\u5c02\u9580\u5bb6\u3084\u5bb6\u65cf\u9593\u3067\u610f\u898b\u304c\u7570\u306a\u308b\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002\u591a\u304f\u306e\u65bd\u8a2d\u3067\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u306e\u4f7f\u7528\u3092\u500b\u4eba\u306e\u9078\u629e\u3068\u3057\u3066\u3044\u307e\u3059\u304c\u3001\u4e8b\u524d\u306b\u9078\u629e\u80a2\u3092\u8a71\u3057\u5408\u3046\u3053\u3068\u3067\u3001\u60c5\u5831\u306b\u57fa\u3065\u3044\u305f\u6c7a\u5b9a\u3092\u3057\u3001\u611f\u60c5\u7684\u306b\u6e96\u5099\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>EIEE4\u306e\u4e88\u5f8c\u306f\u4e00\u822c\u7684\u306b\u60aa\u304f\u3001\u4e73\u5150\u671f\u306b\u6b7b\u4ea1\u3059\u308b\u30ea\u30b9\u30af\u304c\u9ad8\u3044\u3067\u3059\uff08\u7d0450%\u304c2\u6b73\u672a\u6e80\u3067\u6b7b\u4ea1\uff09\u3002\u751f\u5b58\u8005\u306f\u91cd\u5ea6\u306e\u7cbe\u795e\u904b\u52d5\u969c\u5bb3\u3084\u7d99\u7d9a\u7684\u306a\u767a\u4f5c\u306b\u60a9\u307e\u3055\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002\u305d\u306e\u305f\u3081\u3001\u907a\u4f1d\u7684\u30ea\u30b9\u30af\u3092\u8003\u616e\u3057\u305f\u4e0a\u3067\u5b50\u3069\u3082\u3092\u8a08\u753b\u3059\u308b\u3053\u3068\u304c\u91cd\u8981\u3067\u3042\u308a\u3001\u907a\u4f1d\u7684\u30ea\u30b9\u30af\u304c\u7279\u5b9a\u3055\u308c\u305f\u5834\u5408\u306b\u306f\u3001NIPT\u3092\u53d7\u3051\u308b\u3053\u3068\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002\u3053\u308c\u306b\u3088\u308a\u3001\u89aa\u306f\u65e9\u671f\u306b\u60c5\u5831\u3092\u5f97\u3066\u3001\u9069\u5207\u306a\u533b\u7642\u4ecb\u5165\u306e\u6e96\u5099\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<div 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3001\u8a8d\u77e5\u6a5f\u80fd\u969c\u5bb3\u3001\u7672\u7647\u306a\u3069\u3001\u591a\u69d8\u306a\u75c7\u72b6\u3092\u4f34\u3046\u91cd\u5ea6\u306e\u795e\u7d4c\u969c\u5bb3\u3067\u3059\u3002\u3053\u306e\u75be\u60a3\u306f\u7d04500\u4f8b\u304c\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001\u5f71\u97ff\u3092\u53d7\u3051\u305f\u500b\u4eba\u3054\u3068\u306b\u7570\u306a\u308b\u75c7\u72b6\u304c\u73fe\u308c\u307e\u3059\u3002\u3059\u3079\u3066\u306e\u60a3\u8005\u306b\u306f\u4f55\u3089\u304b\u306e\u767a\u9054\u9045\u5ef6\u304c\u898b\u3089\u308c\u307e\u3059\u304c\u3001\u305d\u306e\u91cd\u75c7\u5ea6\u306f\u8efd\u5ea6\u304b\u3089\u91cd\u5ea6\u307e\u3067\u3055\u307e\u3056\u307e\u3067\u3059\u3002\u767a\u9054\u9045\u5ef6\u306b\u306f\u3001\u904b\u52d5\u80fd\u529b\u3001\u8a00\u8a9e\u3001\u5fae\u7d30\u904b\u52d5\u306e\u767a\u9054\u306b\u304a\u3051\u308b\u9045\u308c\u304c\u542b\u307e\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002\u4e2d\u306b\u306f\u4f4e\u7b4b\u7dca\u5f35\uff08\u7b4b\u8089\u306e\u7dca\u5f35\u304c\u4f4e\u3044\u72b6\u614b\uff09\u3084\u982d\u306e\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u304c\u3046\u307e\u304f\u3044\u304b\u306a\u3044\u3053\u3068\u304c\u898b\u3089\u308c\u308b\u60a3\u8005\u3082\u3044\u307e\u3059\u3002\u4f4e\u7b4b\u7dca\u5f35\u3092\u793a\u3059\u60a3\u8005\u306f\u534a\u6570\u672a\u6e80\u3067\u3059\u304c\u3001\u904b\u52d5\u80fd\u529b\u3084\u8a00\u8a9e\u80fd\u529b\u306e\u9045\u308c\u306f\u591a\u304f\u306e\u60a3\u8005\u306b\u9855\u8457\u3067\u3059\u3002<\/p>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u306fSTXBP1\u8133\u75c7\u306e\u7279\u5fb4\u7684\u306a\u75c7\u72b6\u3067\u3042\u308a\u3001\u305d\u306e\u7a0b\u5ea6\u306f\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059\u300248\u540d\u306e\u60a3\u8005\u306e\u3046\u3061\u3001\u307b\u3068\u3093\u3069\u306e\u60a3\u8005\u304c\u91cd\u5ea6\u307e\u305f\u306f\u6df1\u523b\u306a<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3092\u62b1\u3048\u300138%\u306f\u8a00\u8449\u3092\u8a71\u3059\u3053\u3068\u304c\u3067\u304d\u307e\u305b\u3093\u3067\u3057\u305f\u3002\u3055\u3089\u306b\u8abf\u67fb\u3092\u884c\u3063\u305f\u7d50\u679c\u300111\u6b73\u4ee5\u4e0a\u306e\u60a3\u8005\u306e90%\u304c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3092\u6301\u3061\u3001\u305d\u306e\u5927\u591a\u6570\u304c\u91cd\u5ea6\u306e\u8a8d\u77e5\u969c\u5bb3\u3092\u62b1\u3048\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u8a8d\u77e5\u6a5f\u80fd\u306e\u4f4e\u4e0b\u306f\u5b66\u7fd2\u3084\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u306b\u5927\u304d\u304f\u5f71\u97ff\u3057\u3001\u307b\u3068\u3093\u3069\u306e\u60a3\u8005\u306f\u751f\u6daf\u306b\u308f\u305f\u3063\u3066\u652f\u63f4\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<div style=\"height:23px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"426\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/31048631_s-1.jpg\" alt=\"\u3053\u3069\u3082\u306e\u8a3a\u65ad\" class=\"wp-image-88820\"\/><\/figure><\/div>\n\n\n<div style=\"height:23px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u7672\u7647\u306f\u3053\u306e\u75be\u60a3\u306e\u4e00\u822c\u7684\u306a\u7279\u5fb4\u3067\u300170%\u304b\u308995%\u306e\u60a3\u8005\u306b\u898b\u3089\u308c\u307e\u3059\u3002\u767a\u4f5c\u306f\u751f\u5f8c\u6570\u6642\u9593\u4ee5\u5185\u306b\u59cb\u307e\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u751f\u6daf\u306b\u308f\u305f\u3063\u3066\u7d9a\u304f\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u6700\u3082\u591a\u3044\u767a\u4f5c\u306e\u7a2e\u985e\u306f\u3001\u7126\u70b9\u767a\u4f5c\uff08\u90e8\u5206\u7684\u306a\u767a\u4f5c\uff09\u3001\u5168\u822c\u6027\u767a\u4f5c\u3001\u4e73\u5150\u3051\u3044\u308c\u3093\u3067\u3059\u3002\u7d0460%\u306e\u60a3\u8005\u306f\u8907\u6570\u306e\u767a\u4f5c\u30bf\u30a4\u30d7\u3092\u7d4c\u9a13\u3057\u307e\u3059\u3002\u767a\u4f5c\u7ba1\u7406\u306b\u306f\u30d5\u30a7\u30ce\u30d0\u30eb\u30d3\u30bf\u30fc\u30eb\u3001\u30d0\u30eb\u30d7\u30ed\u9178\u3001\u30d3\u30ac\u30d0\u30c8\u30ea\u30f3\u3001\u30ec\u30d9\u30c1\u30e9\u30bb\u30bf\u30e0\u306a\u3069\u306e\u6297\u7672\u7647\u85ac\uff08ASM\uff09\u304c\u4f7f\u7528\u3055\u308c\u307e\u3059\u304c\u3001\u3053\u308c\u3089\u306e\u85ac\u304c\u52b9\u304b\u306a\u3044\u60a3\u8005\u3082\u304a\u308a\u3001\u305d\u306e\u5834\u5408\u306f\u30b1\u30c8\u30b8\u30a7\u30cb\u30c3\u30af\u30c0\u30a4\u30a8\u30c3\u30c8\u3084\u7672\u7647\u624b\u8853\u304c\u691c\u8a0e\u3055\u308c\u307e\u3059\u3002\u30b1\u30c8\u30b8\u30a7\u30cb\u30c3\u30af\u30c0\u30a4\u30a8\u30c3\u30c8\u306f\u4e00\u90e8\u306e\u60a3\u8005\u3067\u52b9\u679c\u304c\u3042\u308a\u3001\u767a\u4f5c\u304c\u307b\u307c\u5b8c\u5168\u306b\u81ea\u7531\u306b\u306a\u308b\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002\u85ac\u7269\u6cbb\u7642\u304c\u52b9\u679c\u3092\u793a\u3055\u306a\u3044\u60a3\u8005\u306b\u306f\u3001\u8133\u6881\u5207\u65ad\u8853\u3084\u5c40\u6240\u76ae\u8cea\u7570\u5f62\u6210\u306e\u5207\u9664\u306a\u3069\u306e\u624b\u8853\u304c\u767a\u4f5c\u306e\u983b\u5ea6\u3092\u6e1b\u5c11\u3055\u305b\u308b\u305f\u3081\u306b\u884c\u308f\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7672\u7647\u306e\u307b\u304b\u3001STXBP1\u8133\u75c7\u306e\u60a3\u8005\u306b\u306f\u904b\u52d5\u969c\u5bb3\u3082\u591a\u304f\u898b\u3089\u308c\u307e\u3059\u3002\u3053\u308c\u306b\u306f\u3001\u9854\u9762\u306e\u8868\u60c5\u304c\u6e1b\u5c11\u3059\u308b\u300c\u4f4e\u9854\u9762\u8868\u60c5\u300d\u3001\u904b\u52d5\u304c\u9045\u304f\u306a\u308b\u300c\u904b\u52d5\u7de9\u6162\u300d\u3001\u9707\u3048\u3001\u5354\u8abf\u904b\u52d5\u969c\u5bb3\u3001\u7121\u610f\u8b58\u306e\u52d5\u304d\u300c\u30b8\u30b9\u30ad\u30cd\u30b8\u30a2\u300d\u3001\u7b4b\u8089\u306e\u7570\u5e38\u53ce\u7e2e\u300c\u30b8\u30b9\u30c8\u30cb\u30a2\u300d\u3001\u7570\u5e38\u306a\u7121\u610f\u8b58\u7684\u306a\u52d5\u304d\u300c\u821e\u8e0f\u30a2\u30c6\u30c8\u30fc\u30b7\u30b9\u300d\u306a\u3069\u304c\u542b\u307e\u308c\u307e\u3059\u3002\u7d0487%\u306e\u60a3\u8005\u304c\u3053\u308c\u3089\u306e\u904b\u52d5\u969c\u5bb3\u3092\u7d4c\u9a13\u3057\u3001\u65e5\u5e38\u751f\u6d3b\u306b\u5927\u304d\u306a\u652f\u969c\u3092\u304d\u305f\u3057\u307e\u3059\u3002\u7279\u306b\u300111\u6b73\u4ee5\u4e0a\u306e\u60a3\u8005\u306e\u7d0440%\u306f\u9707\u3048\u3084\u904b\u52d5\u5931\u8abf\u304c\u898b\u3089\u308c\u307e\u3059\u3002\u904b\u52d5\u969c\u5bb3\u306e\u6cbb\u7642\u306b\u306f\u3001\u8eab\u4f53\u7642\u6cd5\u3084\u4f5c\u696d\u7642\u6cd5\u304c\u5f79\u7acb\u3061\u3001\u767a\u9054\u80fd\u529b\u306e\u6700\u5927\u5316\u3068\u904b\u52d5\u6a5f\u80fd\u306e\u6539\u5584\u304c\u671f\u5f85\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:23px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"480\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/31127225_s.jpg\" alt=\"\u5bdd\u3066\u3044\u308b\u5b50\u4f9b\" class=\"wp-image-88779\"\/><\/figure><\/div>\n\n\n<div style=\"height:23px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u307e\u305f\u3001STXBP1\u8133\u75c7\u306b\u306f\u795e\u7d4c\u884c\u52d5\u75c7\u72b6\u3082\u591a\u304f\u898b\u3089\u308c\u307e\u3059\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u75c7<\/a>\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u969c\u5bb3\uff08ASD\uff09\u3001\u904e\u6d3b\u52d5\u3001\u81ea\u50b7\u884c\u70ba\u306a\u3069\u304c\u7d0465%\u306e\u60a3\u8005\u306b\u73fe\u308c\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u75c7\u72b6\u306f\u5f37\u8feb\u7684\u306a\u884c\u52d5\u3084\u653b\u6483\u6027\u3001\u81ea\u5df1\u5207\u65ad\u884c\u70ba\u3001\u7a00\u306b\u7cbe\u795e\u75c5\u30a8\u30d4\u30bd\u30fc\u30c9\u3092\u542b\u3080\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u7761\u7720\u969c\u5bb3\u3082\u4e00\u822c\u7684\u3067\u3001\u7d0420%\u306e\u60a3\u8005\u304c\u5bdd\u304b\u3057\u3064\u3051\u3084\u7761\u7720\u306e\u7dad\u6301\u306b\u554f\u984c\u3092\u62b1\u3048\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6d88\u5316\u5668\u7cfb\u306e\u554f\u984c\u3082\u591a\u304f\u3001\u4fbf\u79d8\u3084\u4f53\u91cd\u5897\u52a0\u4e0d\u826f\u3001\u9006\u6d41\u6027\u98df\u9053\u708e\u306a\u3069\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u7d0413%\u306e\u60a3\u8005\u306f\u7d4c\u7ba1\u6804\u990a\uff08\u80c3\u308d\u3046\uff09\u3092\u5fc5\u8981\u3068\u3057\u307e\u3059\u3002\u5225\u306e\u7a00\u306a\u75c7\u72b6\u3068\u3057\u3066\u3001\u5c0f\u982d\u75c7\uff08\u982d\u304c\u7570\u5e38\u306b\u5c0f\u3055\u3044\uff09\u304c\u898b\u3089\u308c\u307e\u3059\u304c\u3001\u3053\u308c\u306f10\u540d\u672a\u6e80\u306e\u60a3\u8005\u306b\u3057\u304b\u898b\u3089\u308c\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u305d\u306e\u4ed6\u306e\u8eab\u4f53\u7684\u75c7\u72b6\u3068\u3057\u3066\u306f\u3001\u810a\u67f1\u5074\u5f2f\u75c7\uff08\u80cc\u9aa8\u306e\u66f2\u304c\u308a\uff09\u3001\u95a2\u7bc0\u306e\u5f1b\u7de9\uff08\u95a2\u7bc0\u304c\u3086\u308b\u3044\uff09\u3001\u659c\u8996\uff08\u76ee\u306e\u4f4d\u7f6e\u304c\u305a\u308c\u308b\uff09\u306a\u3069\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u3053\u308c\u3089\u306f\u6bd4\u8f03\u7684\u5c11\u6570\u306e\u60a3\u8005\u306b\u898b\u3089\u308c\u308b\u75c7\u72b6\u3067\u3059\u3002STXBP1\u8133\u75c7\u306e\u60a3\u8005\u306b\u306f\u8133MRI\u3092\u5b9f\u65bd\u3059\u308b\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\u300175%\u4ee5\u4e0a\u306e\u60a3\u8005\u306b\u4f55\u3089\u304b\u306e\u8133\u306e\u7570\u5e38\u304c\u78ba\u8a8d\u3055\u308c\u307e\u3059\u3002\u6700\u3082\u4e00\u822c\u7684\u306aMRI\u6240\u898b\u306b\u306f\u3001\u8133\u840e\u7e2e\uff08\u8133\u306e\u7e2e\u5c0f\uff09\u3001\u9ac4\u9798\u5f62\u6210\u9045\u5ef6\uff08\u795e\u7d4c\u7dda\u7dad\u3092\u4fdd\u8b77\u3059\u308b\u9ac4\u9798\u306e\u672a\u767a\u9054\uff09\u3001\u8133\u6881\u306e\u8584\u5316\uff08\u8133\u306e\u4e21\u534a\u7403\u3092\u3064\u306a\u3050\u90e8\u4f4d\u306e\u7d30\u5316\uff09\u304c\u542b\u307e\u308c\u307e\u3059\u3002\u305d\u306e\u4ed6\u306e\u975e\u7279\u7570\u7684\u306a\u7570\u5e38\u3068\u3057\u3066\u3001\u8133\u306e\u975e\u5bfe\u79f0\u6027\u3084\u5c0f\u3055\u306a\u640d\u50b7\u9818\u57df\u3082\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u591a\u304f\u306e\u60a3\u8005\u306f\u6b63\u5e38\u306aMRI\u6240\u898b\u3092\u793a\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:23px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"451\" src=\"\/nipt\/wp-content\/uploads\/2024\/12\/908699_s.jpg\" alt=\"\u820c\u3001\u85ac\" class=\"wp-image-87099\"\/><\/figure><\/div>\n\n\n<div style=\"height:23px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>STXBP1\u8133\u75c7\u306e\u7ba1\u7406\u306b\u306f\u3001\u591a\u8077\u7a2e\u306b\u3088\u308b\u30a2\u30d7\u30ed\u30fc\u30c1\u304c\u5fc5\u8981\u3067\u3059\u3002\u7279\u306b\u767a\u4f5c\u306e\u7ba1\u7406\u306f\u3001\u60a3\u8005\u306e\u751f\u6d3b\u306e\u8cea\u3092\u5411\u4e0a\u3055\u305b\u308b\u305f\u3081\u306b\u975e\u5e38\u306b\u91cd\u8981\u3067\u3059\u3002\u904b\u52d5\u969c\u5bb3\u3001\u8a8d\u77e5\u7684\u8ab2\u984c\u3001\u795e\u7d4c\u884c\u52d5\u7684\u554f\u984c\u3078\u306e\u6cbb\u7642\u306f\u3001\u60a3\u8005\u304c\u305d\u306e\u5f71\u97ff\u3092\u7ba1\u7406\u3059\u308b\u80fd\u529b\u3092\u5927\u3044\u306b\u9ad8\u3081\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u8eab\u4f53\u7642\u6cd5\u3001\u4f5c\u696d\u7642\u6cd5\u3001\u5b9a\u671f\u7684\u306a\u533b\u7642\u30d5\u30a9\u30ed\u30fc\u30a2\u30c3\u30d7\u304c\u30b1\u30a2\u306e\u91cd\u8981\u306a\u90e8\u5206\u3067\u3059\u3002STXBP1\u8133\u75c7\u306e\u60a3\u8005\u3092\u30b5\u30dd\u30fc\u30c8\u3059\u308b\u305f\u3081\u306b\u306f\u3001\u5bb6\u65cf\u3084\u4ecb\u8b77\u8005\u306b\u5bfe\u3057\u3066\u5341\u5206\u306a\u652f\u63f4\u3068\u6307\u5c0e\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p>STXBP1\u8133\u75c7\u306e\u8a3a\u65ad\u306b\u306f\u907a\u4f1d\u5b50\u691c\u67fb\u304c\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u307e\u3059\u3002STXBP1\u907a\u4f1d\u5b50\u306b\u75c5\u7684\u5909\u7570\u304c\u78ba\u8a8d\u3055\u308c\u308b\u3068\u3001\u30ea\u30b9\u30af\u306e\u3042\u308b\u5bb6\u65cf\u306b\u5bfe\u3057\u3066\u51fa\u751f\u524d\u304a\u3088\u3073\u7740\u5e8a\u524d\u907a\u4f1d\u5b50\u691c\u67fb\u304c\u63d0\u4f9b\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u306b\u3088\u308a\u3001\u5c06\u6765\u306e\u598a\u5a20\u306b\u95a2\u3059\u308b\u610f\u601d\u6c7a\u5b9a\u3092\u30b5\u30dd\u30fc\u30c8\u3057\u3001\u6cbb\u7642\u30aa\u30d7\u30b7\u30e7\u30f3\u306b\u3064\u3044\u3066\u306e\u6d1e\u5bdf\u3092\u5f97\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306f\u5bb6\u65cf\u306b\u5f37\u304f\u63a8\u5968\u3055\u308c\u307e\u3059\u3002STXBP1\u8133\u75c7\u306e\u307b\u3068\u3093\u3069\u306f\u65b0\u305f\u306b\u767a\u751f\u3057\u305f\uff08de novo\uff09\u5909\u7570\u306b\u3088\u308b\u3082\u306e\u3067\u3001\u907a\u4f1d\u306b\u3088\u308b\u3082\u306e\u3067\u306f\u306a\u3044\u305f\u3081\u3001\u6b21\u306b\u5b50\u3069\u3082\u304c\u3053\u306e\u75be\u60a3\u3092\u6301\u3064\u30ea\u30b9\u30af\u306f\u4f4e\u3044\u3082\u306e\u306e\u3001\u5b8c\u5168\u306b\u30bc\u30ed\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<div style=\"height:23px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u598a\u5a20\u4e2d\u306e\u30ea\u30b9\u30af\u7ba1\u7406\u306b<br \/>\nNIPT\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p>&nbsp;<\/p>\n<\/div>\n<\/div>\n\n\n\n<div style=\"height:23px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>DNA\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\u6280\u8853\u306e\u9032\u6b69\u306b\u3088\u308a\u3001\u975e\u4fb5\u8972\u7684\u306a<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\uff08<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>\uff09\u306f\u3001\u5f93\u6765\u306e\u51fa\u751f\u524dFISH\uff08\u86cd\u5149in situ\u30cf\u30a4\u30d6\u30ea\u30c0\u30a4\u30bc\u30fc\u30b7\u30e7\u30f3\uff09\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u306b\u4ee3\u308f\u308b\u4fe1\u983c\u6027\u306e\u9ad8\u3044\u5b89\u5168\u306a\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u65b9\u6cd5\u3068\u3057\u3066\u5e83\u304f\u7528\u3044\u3089\u308c\u308b\u3088\u3046\u306b\u306a\u3063\u3066\u3044\u307e\u3059\u3002NIPT\u306f\u6bcd\u4f53\u306e\u8840\u6db2\u4e2d\u306b\u542b\u307e\u308c\u308b\u80ce\u5150\u306e\u7d30\u80de\u3092\u89e3\u6790\u3057\u3001\u80ce\u5150\u306e\u907a\u4f1d\u5b50\u60c5\u5831\u3092\u8abf\u3079\u307e\u3059\u3002\u3053\u308c\u306b\u3088\u308a\u3001\u6bcd\u4f53\u3084\u80ce\u5150\u306b\u30ea\u30b9\u30af\u3092\u4e0e\u3048\u305a\u306b\u4fe1\u983c\u6027\u306e\u9ad8\u3044\u7d50\u679c\u3092\u5f97\u308b\u3053\u3068\u304c\u3067\u304d\u3001\u598a\u5a20\u4e2d\u306e\u89aa\u306b\u3068\u3063\u3066\u975e\u5e38\u306b\u4eba\u6c17\u306e\u3042\u308b\u9078\u629e\u80a2\u3068\u306a\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7d50\u8ad6\u3068\u3057\u3066\u3001STXBP1\u8133\u75c7\u306f\u767a\u9054\u9045\u5ef6\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3001\u7672\u7647\u3001\u904b\u52d5\u969c\u5bb3\u3001\u795e\u7d4c\u884c\u52d5\u7684\u554f\u984c\u306a\u3069\u3001\u5e83\u7bc4\u56f2\u306b\u308f\u305f\u308b\u75c7\u72b6\u3092\u4f34\u3046\u8907\u96d1\u306a\u75be\u60a3\u3067\u3059\u3002\u73fe\u5728\u306e\u3068\u3053\u308d\u6cbb\u7642\u6cd5\u306f\u306a\u304f\u3001\u65e9\u671f\u306e\u4ecb\u5165\u3001\u6cbb\u7642\u3001\u305d\u3057\u3066\u7d99\u7d9a\u7684\u306a\u533b\u7642\u30b5\u30dd\u30fc\u30c8\u304c\u3001\u60a3\u8005\u304c\u75c7\u72b6\u3092\u7ba1\u7406\u3057\u3001\u3088\u308a\u6a5f\u80fd\u7684\u306a\u751f\u6d3b\u3092\u9001\u308b\u305f\u3081\u306b\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n    <a href=\"\/nipt\/nipt-testing-overview-japan\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">NIPT\uff08\u306b\u3077\u3068\uff09\u306b\u3064\u3044\u3066\u8d85\u7c21\u5358\u306b\u8aac\u660e\u3057\u307e\u3059\u3002 <\/div>\n          <div class=\"blog-card-excerpt\">NIPT\u3067\u4f55\u304c\u308f\u304b\u308b\uff1f\u53d7\u8a3a\u6642\u671f\u3084\u7cbe\u5ea6\u3001\u6027\u5225\u5224\u5b9a\u3001\u691c\u67fb\u5bfe\u8c61\u3001\u5e74\u9f62\u5236\u9650\u3001\u7d50\u679c\u65e5\u6570\u306a\u3069\u3092\u3084\u3055\u3057\u304f\u89e3\u8aac\u3002\u521d\u3081\u3066\u306e\u65b9\u3082\u5b89\u5fc3\u3067\u3059\uff5c\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af...<\/div>\n      <\/div>\n    <\/a>\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\/2024\/11\/24156031_s.jpg\" alt=\"\u5b50\u3069\u3082\u3092\u611b\u3055\u306a\u3044\u3068\" class=\"wp-image-87708\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%82%82%E3%81%A3%E3%81%A8%E7%9F%A5%E3%82%8A%E3%81%9F%E3%81%84%E6%96%B9%E3%81%B8\"><\/span>\u3082\u3063\u3068\u77e5\u308a\u305f\u3044\u65b9\u3078<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u3010\u5199\u771f\u3042\u308a\u30fb\u82f1\u8a9e\u3011\u30e6\u30cb\u30fc\u30af\uff08Unique\uff09\u306b\u3088\u308b\u3010Disorders of STXBP1\u3011\u306b\u95a2\u3059\u308b<a href=\"https:\/\/rarechromo.org\/media\/information\/Chromosome%20%209\/Disorders%20of%20STXBP1%20QFN.pdf\">\u60c5\u5831\u30b7\u30fc\u30c8<\/a><\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u598a\u5a20\u4e2d\u306e\u30ea\u30b9\u30af\u7ba1\u7406\u306b<br \/>\nNIPT\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p>&nbsp;<\/p>\n<\/div>\n<\/div>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%BC%95%E7%94%A8%E6%96%87%E7%8C%AE\"><\/span>\u5f15\u7528\u6587\u732e<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK396561\/\">Mercimek-Andrews S. STXBP1 Encephalopathy with Epilepsy. 2016 Dec 1 [Updated 2023 Sep 28]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK396561\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.pediatrneurol.2020.12.001\">Morrison-Levy, N., Borlot, F., Jain, P., &amp; Whitney, R. (2021). Early-onset developmental and epileptic encephalopathies of infancy: An overview of the genetic basis and clinical features. <em>Pediatric Neurology<\/em>, <em>116<\/em>, 85\u201394. https:\/\/doi.org\/10.1016\/j.pediatrneurol.2020.12.001<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.3390\/genes14122179\">Freibauer, A., Wohlleben, M., &amp; Boelman, C. (2023). Stxbp1-related disorders: Clinical presentation, molecular function, treatment, and future directions. <em>Genes<\/em>, <em>14<\/em>(12), 2179. https:\/\/doi.org\/10.3390\/genes14122179<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.5213\/inj.2142166.083\">Moon, J. U., &amp; Cho, K. O. (2021). Current Pharmacologic Strategies for Treatment of Intractable Epilepsy in Children. <em>International neurourology journal<\/em>, <em>25<\/em>(Suppl 1), S8\u2013S18. https:\/\/doi.org\/10.5213\/inj.2142166.083<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1212\/WNL.0000000000002457\">Stamberger, H., Nikanorova, M., Willemsen, M. H., Accorsi, P., Angriman, M., Baier, H., Benkel-Herrenbrueck, I., Benoit, V., Budetta, M., Caliebe, A., Cantalupo, G., Capovilla, G., Casara, G., Courage, C., Deprez, M., Destr\u00e9e, A., Dilena, R., Erasmus, C. E., Fannemel, M., Fj\u00e6r, R., \u2026 Weckhuysen, S. (2016). STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy. <em>Neurology<\/em>, <em>86<\/em>(10), 954\u2013962. https:\/\/doi.org\/10.1212\/WNL.0000000000002457<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1111\/jnc.15120\">Abramov, D., Guiberson, N. G. L., &amp; Burr\u00e9, J. (2021). STXBP1 encephalopathies: Clinical spectrum, disease mechanisms, and therapeutic strategies. <em>Journal of Neurochemistry<\/em>, <em>157<\/em>(2), 165\u2013178. https:\/\/doi.org\/10.1111\/jnc.15120<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1038\/ejhg.2015.202\">Nambot, S., Masurel, A., El Chehadeh, S., Mosca-Boidron, A.-L., Thauvin-Robinet, C., Lefebvre, M., Marle, N., Thevenon, J., Perez-Martin, S., Dulieu, V., Huet, F., Plessis, G., Andrieux, J., Jouk, P.-S., Billy-Lopez, G., Coutton, C., Morice-Picard, F., Delrue, M.-A., Heron, D., \u2026 Faivre, L. (2016). 9q33.3q34.11 microdeletion: New contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping. <em>European Journal of Human Genetics<\/em>, <em>24<\/em>(6), 830\u2013837. https:\/\/doi.org\/10.1038\/ejhg.2015.202<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1002\/ana.21625\">Hamdan, F. F., Piton, A., Gauthier, J., Lortie, A., Dubeau, F., Dobrzeniecka, S., Spiegelman, D., Noreau, A., Pellerin, S., C\u00f4t\u00e9, M., Henrion, E., Fombonne, \u00c9., Mottron, L., Marineau, C., Drapeau, P., Lafreni\u00e8re, R. G., Lacaille, J. C., Rouleau, G. A., &amp; Michaud, J. L. (2009). De novo <em>STXBP1<\/em> mutations in mental retardation and nonsyndromic epilepsy. <em>Annals of Neurology<\/em>, <em>65<\/em>(6), 748\u2013753. https:\/\/doi.org\/10.1002\/ana.21625<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.ejpn.2019.12.008\">Symonds, J. D., &amp; McTague, A. (2020). Epilepsy and developmental disorders: Next generation sequencing in the clinic. <em>European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society<\/em>, <em>24<\/em>, 15\u201323. https:\/\/doi.org\/10.1016\/j.ejpn.2019.12.008<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.orpha.net\/en\/disease\/detail\/599373\">Orphanet. <em>STXBP1-related encephalopathy.<\/em> Retrieved from https:\/\/www.orpha.net\/en\/disease\/detail\/599373<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.orpha.net\/en\/disease\/detail\/1934\">Orphanet. (Last updated July 2014). <em>Early infantile epileptic encephalopathy.<\/em> Reviewed by Prof. Helen CROSS. Retrieved from https:\/\/www.orpha.net\/en\/disease\/detail\/1934<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/omim.org\/entry\/612164\">Online Mendelian Inheritance in Man. (Last updated November 2022 by Hilary J. Vernon). Retreived from https:\/\/omim.org\/entry\/612164<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1093\/nar\/gkae974\">Perez, G., Barber, G. P., Benet-Pages, A., Casper, J., Clawson, H., Diekhans, M., Fischer, C., Gonzalez, J. N., Hinrichs, A. S., Lee, C. M., Nassar, L. R., Raney, B. J., Speir, M. L., van Baren, M. J., Vaske, C. J., Haussler, D., Kent, W. J., &amp; Haeussler, M. (2024). The UCSC Genome Browser database: 2025 update. Nucleic Acids Research, gkae974. https:\/\/doi.org\/10.1093\/nar\/gkae974<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1093\/nar\/gkad1049\">Harrison, P. W., Amode, M. R., Austine-Orimoloye, O., Azov, A. G., Barba, M., Barnes, I., Becker, A., Bennett, R., Berry, A., Bhai, J., Bhurji, S. K., Boddu, S., Branco Lins, P. R., Brooks, L., Budhanuru Ramaraju, S., Campbell, L. I., Carbajo Martinez, M., Charkhchi, M., Chougule, K., \u2026 Yates, A. D. (2024). Ensembl 2024. Nucleic Acids Research, 52(D1), D891\u2013D899. https:\/\/doi.org\/10.1093\/nar\/gkad1049<\/a><\/li>\n<\/ul>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u598a\u5a20\u4e2d\u306e\u30ea\u30b9\u30af\u7ba1\u7406\u306b<br \/>\nNIPT\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p>&nbsp;<\/p>\n<\/div>\n<\/div>\n","protected":false},"excerpt":{"rendered":"\u3053\u306e\u8a18\u4e8b\u306e\u307e\u3068\u3081STXBP1\u8133\u75c7\uff08\u3066\u3093\u304b&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/9q33-3q34-11-microdeletion-syndrome\/\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":101,"featured_media":87423,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[58],"tags":[33,43,49],"class_list":["post-83534","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-genetic-disorder","tag-symptom","tag-gene","tag-genetic-disease"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/83534","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\/101"}],"replies":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/comments?post=83534"}],"version-history":[{"count":22,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/83534\/revisions"}],"predecessor-version":[{"id":109858,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/83534\/revisions\/109858"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/87423"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=83534"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=83534"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=83534"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}