{"id":101263,"date":"2025-06-13T12:27:36","date_gmt":"2025-06-13T03:27:36","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=101263"},"modified":"2026-07-29T06:39:56","modified_gmt":"2026-07-28T21:39:56","slug":"glycine-encephalopathy-amt-overview","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/glycine-encephalopathy-amt-overview\/","title":{"rendered":"\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"},"content":{"rendered":"\n<div style=\"height:20px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<div style=\"border:solid #ffe6e6 0.8rem;background-color:#fff9f9;padding:3% 5%;margin:1rem 0 3rem;\"><h2 style=\"margin-top:1rem;\">\u3053\u306e\u8a18\u4e8b\u306e\u307e\u3068\u3081<\/h2><p><strong>\u30b0\u30ea\u30b7\u30f3\u8133\u75c7(\u975e\u30b1\u30c8\u30f3\u6027\u9ad8\u30b0\u30ea\u30b7\u30f3\u8840\u75c7)\u306eAMT\u907a\u4f1d\u5b50\u95a2\u9023\u578b\u306f\u3001\u30b0\u30ea\u30b7\u30f3\u3092\u5206\u89e3\u3059\u308b\u300c\u30b0\u30ea\u30b7\u30f3\u958b\u88c2\u7cfb\u300d\u3068\u3044\u3046\u4ed5\u7d44\u307f\u304c\u50cd\u304b\u306a\u304f\u306a\u308a\u3001\u8133\u306b\u30b0\u30ea\u30b7\u30f3\u304c\u305f\u307e\u308b\u3053\u3068\u3067\u65b0\u751f\u5150\u671f\u304b\u3089\u96e3\u6cbb\u6027\u306e\u3051\u3044\u308c\u3093\u3084\u91cd\u5ea6\u306e\u767a\u9054\u9045\u6ede\u304c\u73fe\u308c\u308b\u3001\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u306e\u4ee3\u8b1d\u75be\u60a3\u3067\u3059\u3002<\/strong>\u539f\u56e0\u907a\u4f1d\u5b50\u306fAMT\u30fbGLDC\u30fbGCSH\u306e3\u3064\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u5168\u4f53\u306e75\u301c80%\u3092\u5360\u3081\u308bGLDC\u578b\u306b\u5bfe\u3057\u3001AMT\u578b\u306f\u7d0420%\u3092\u5360\u3081\u307e\u3059\u3002\u907a\u4f1d\u5b50\u306f\u9055\u3063\u3066\u3082\u73fe\u308c\u308b\u75c7\u72b6\u306f\u91cd\u306a\u308b\u90e8\u5206\u304c\u591a\u304f\u3001\u6b63\u78ba\u306a\u539f\u56e0\u907a\u4f1d\u5b50\u306e\u7279\u5b9a\u306b\u306f\u907a\u4f1d\u5b50\u691c\u67fb\u304c\u6b20\u304b\u305b\u307e\u305b\u3093\u3002\u672c\u8a18\u4e8b\u3067\u306f\u3001AMT\u578b\u306e\u539f\u56e0\u3001\u75c7\u72b6\u3001\u691c\u67fb\u3001\u6cbb\u7642\u3001\u4e88\u5f8c\u3092\u4e2d\u5fc3\u306b\u3001GLDC\u578b\u3068\u306e\u9055\u3044\u3084\u598a\u5a20\u4e2d\u306e\u691c\u67fb(<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>)\u3068\u306e\u95a2\u4fc2\u307e\u3067\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:1px solid #e8608a;border-radius:8px;background:#fff5f8;padding:4% 5%;margin:1rem 0 2.5rem;\">\n<p style=\"font-weight:bold;font-size:1.05em;margin-top:0;\">\u3053\u306e\u8a18\u4e8b\u3067\u308f\u304b\u308b\u3053\u3068<\/p>\n<ul style=\"margin-bottom:0;\">\n<li>AMT\u907a\u4f1d\u5b50\u306e\u50cd\u304d\u3068\u3001\u30b0\u30ea\u30b7\u30f3\u958b\u88c2\u7cfb\u3068\u3044\u3046\u3057\u304f\u307f\u306e\u5168\u4f53\u50cf<\/li>\n<li>AMT\u578b\u30fbGLDC\u578b\u30fbGCSH\u578b\u306e\u983b\u5ea6\u3084\u907a\u4f1d\u5b50\u5ea7\u306e\u9055\u3044<\/li>\n<li>\u65b0\u751f\u5150\u671f\u304b\u3089\u73fe\u308c\u308b4\u3064\u306e\u75c5\u578b\u3068\u3001\u305d\u308c\u305e\u308c\u306e\u75c7\u72b6\u306e\u7279\u5fb4<\/li>\n<li>\u8a3a\u65ad\u306b\u4f7f\u308f\u308c\u308b\u8840\u6db2\u30fb\u8133\u810a\u9ac4\u6db2\u30fb\u753b\u50cf\u30fb\u907a\u4f1d\u5b50\u691c\u67fb\u306e\u6d41\u308c<\/li>\n<li>\u73fe\u5728\u884c\u308f\u308c\u3066\u3044\u308b\u6cbb\u7642\u6cd5\u3068\u3001\u75c5\u578b\u3054\u3068\u306e\u4e88\u5f8c\u306e\u898b\u901a\u3057<\/li>\n<li><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>(\u65b0\u578b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>)\u3084\u65b0\u751f\u5150\u671f\u306e\u691c\u67fb\u3068\u306e\u95a2\u4fc2<\/li>\n<\/ul>\n<\/div>\n\n\n\n<p>\u304a\u5b50\u3055\u3093\u304c\u539f\u56e0\u306e\u308f\u304b\u3089\u306a\u3044\u3051\u3044\u308c\u3093\u3092\u7e70\u308a\u8fd4\u3057\u3001\u691c\u67fb\u306e\u7d50\u679c\u300cAMT\u907a\u4f1d\u5b50\u306e\u5909\u7570\u300d\u3092\u544a\u3052\u3089\u308c\u305f\u3054\u5bb6\u65cf\u306e\u65b9\u3078\u3002<\/p>\n\n\n\n<p>\u805e\u304d\u6163\u308c\u306a\u3044\u75c5\u540d\u3068\u907a\u4f1d\u5b50\u540d\u3092\u524d\u306b\u3001\u982d\u304c\u771f\u3063\u767d\u306b\u306a\u3063\u305f\u65b9\u3082\u591a\u3044\u306e\u3067\u306f\u306a\u3044\u3067\u3057\u3087\u3046\u304b\u3002\u30b0\u30ea\u30b7\u30f3\u8133\u75c7\u306f\u304d\u308f\u3081\u3066\u307e\u308c\u306a\u75c5\u6c17\u3067\u3001\u8eab\u8fd1\u306b\u540c\u3058\u7d4c\u9a13\u3092\u3057\u305f\u4eba\u3092\u898b\u3064\u3051\u306b\u304f\u3044\u3068\u3044\u3046\u7279\u5fb4\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u79c1\u81ea\u8eab\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u73fe\u5834\u3067\u300c\u306a\u305c\u3046\u3061\u306e\u5b50\u3060\u3051\u3053\u3093\u306a\u91cd\u3044\u75c5\u6c17\u306b\u300d\u3068\u6d99\u3092\u6d41\u3055\u308c\u308b\u3054\u4e21\u89aa\u306b\u3001\u3053\u308c\u307e\u3067\u4f55\u5ea6\u3082\u5411\u304d\u5408\u3063\u3066\u304d\u307e\u3057\u305f\u3002\u539f\u56e0\u3092\u6b63\u3057\u304f\u77e5\u308b\u3053\u3068\u306f\u3001\u6c7a\u3057\u3066\u73cd\u3057\u3059\u304e\u308b\u75c5\u6c17\u3067\u306f\u306a\u3044\u3068\u7406\u89e3\u3059\u308b\u7b2c\u4e00\u6b69\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u8a18\u4e8b\u3067\u306f\u3001AMT\u907a\u4f1d\u5b50\u304c\u95a2\u308f\u308b\u30bf\u30a4\u30d7\u306b\u7126\u70b9\u3092\u5f53\u3066\u3001\u539f\u56e0\u30fb\u75c7\u72b6\u30fb\u691c\u67fb\u30fb\u6cbb\u7642\u30fb\u4e88\u5f8c\u3092\u6574\u7406\u3057\u307e\u3059\u3002\u539f\u56e0\u306e\u5927\u534a\u3092\u5360\u3081\u308bGLDC\u578b\u3068\u306e\u9055\u3044\u306b\u3082\u89e6\u308c\u306a\u304c\u3089\u3001\u3067\u304d\u308b\u3060\u3051\u5e73\u6613\u306a\u8a00\u8449\u3067\u89e3\u8aac\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_85 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">\u76ee\u6b21<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/glycine-encephalopathy-amt-overview\/#%E7%96%AB%E5%AD%A6%E3%83%BC%E4%B8%96%E7%95%8C%E3%81%A7%E3%81%AE%E7%99%BA%E7%97%87%E9%A0%BB%E5%BA%A6\" >\u75ab\u5b66\u30fc\u4e16\u754c\u3067\u306e\u767a\u75c7\u983b\u5ea6<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/glycine-encephalopathy-amt-overview\/#%E6%A4%9C%E6%9F%BB%E3%83%BB%E8%A8%BA%E6%96%AD%E3%81%AE%E6%B5%81%E3%82%8C\" >\u691c\u67fb\u30fb\u8a3a\u65ad\u306e\u6d41\u308c<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/glycine-encephalopathy-amt-overview\/#NIPT%E6%96%B0%E5%9E%8B%E5%87%BA%E7%94%9F%E5%89%8D%E8%A8%BA%E6%96%AD%E3%81%A8%E3%81%AE%E9%96%A2%E4%BF%82\" >NIPT(\u65b0\u578b\u51fa\u751f\u524d\u8a3a\u65ad)\u3068\u306e\u95a2\u4fc2<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/glycine-encephalopathy-amt-overview\/#%E6%B2%BB%E7%99%82%E6%B3%95%E3%81%A8%E7%AE%A1%E7%90%86\" >\u6cbb\u7642\u6cd5\u3068\u7ba1\u7406<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/glycine-encephalopathy-amt-overview\/#%E4%BA%88%E5%BE%8C%E3%83%BC%E7%97%85%E5%9E%8B%E3%81%AB%E3%82%88%E3%82%8B%E8%A6%8B%E9%80%9A%E3%81%97%E3%81%AE%E9%81%95%E3%81%84\" >\u4e88\u5f8c\u30fc\u75c5\u578b\u306b\u3088\u308b\u898b\u901a\u3057\u306e\u9055\u3044<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/glycine-encephalopathy-amt-overview\/#%E7%9B%B8%E8%AB%87%E3%81%A7%E3%81%8D%E3%82%8B%E7%AA%93%E5%8F%A3%E3%81%A8%E3%81%94%E5%AE%B6%E6%97%8F%E3%81%B8%E3%81%AE%E3%82%B5%E3%83%9D%E3%83%BC%E3%83%88\" >\u76f8\u8ac7\u3067\u304d\u308b\u7a93\u53e3\u3068\u3054\u5bb6\u65cf\u3078\u306e\u30b5\u30dd\u30fc\u30c8<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-12\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/glycine-encephalopathy-amt-overview\/#%E3%82%88%E3%81%8F%E3%81%82%E3%82%8B%E8%B3%AA%E5%95%8F\" >\u3088\u304f\u3042\u308b\u8cea\u554f<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-13\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/glycine-encephalopathy-amt-overview\/#Q_AMT%E5%9E%8B%E3%82%B0%E3%83%AA%E3%82%B7%E3%83%B3%E8%84%B3%E7%97%87%E3%81%A8GLDC%E5%9E%8B%E3%81%AF%E3%80%81%E3%81%A9%E3%81%A1%E3%82%89%E3%81%8C%E5%A4%9A%E3%81%84%E3%81%AE%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\" >Q. AMT\u578b\u30b0\u30ea\u30b7\u30f3\u8133\u75c7\u3068GLDC\u578b\u306f\u3001\u3069\u3061\u3089\u304c\u591a\u3044\u306e\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-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/glycine-encephalopathy-amt-overview\/#Q_AMT%E5%9E%8B%E3%81%AFNIPT%E6%96%B0%E5%9E%8B%E5%87%BA%E7%94%9F%E5%89%8D%E8%A8%BA%E6%96%AD%E3%81%A7%E3%82%8F%E3%81%8B%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >Q. AMT\u578b\u306fNIPT(\u65b0\u578b\u51fa\u751f\u524d\u8a3a\u65ad)\u3067\u308f\u304b\u308a\u307e\u3059\u304b\u3002<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-15\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/glycine-encephalopathy-amt-overview\/#Q_%E5%87%BA%E7%94%9F%E5%BE%8C%E3%81%AE%E6%96%B0%E7%94%9F%E5%85%90%E3%83%9E%E3%82%B9%E3%82%B9%E3%82%AF%E3%83%AA%E3%83%BC%E3%83%8B%E3%83%B3%E3%82%B0%E3%81%A7%E8%A6%8B%E3%81%A4%E3%81%8B%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >Q. \u51fa\u751f\u5f8c\u306e\u65b0\u751f\u5150\u30de\u30b9\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3067\u898b\u3064\u304b\u308a\u307e\u3059\u304b\u3002<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/glycine-encephalopathy-amt-overview\/#Q_%E9%A1%95%E6%80%A7%E9%81%BA%E4%BC%9D%E3%81%A8%E6%BD%9C%E6%80%A7%E9%81%BA%E4%BC%9D%E3%81%AE%E9%81%95%E3%81%84%E3%81%AF%E4%BD%95%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\" >Q. \u9855\u6027\u907a\u4f1d\u3068\u6f5c\u6027\u907a\u4f1d\u306e\u9055\u3044\u306f\u4f55\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-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/glycine-encephalopathy-amt-overview\/#Q_%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\" >Q. \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-18\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/glycine-encephalopathy-amt-overview\/#Q_%E6%B2%BB%E7%99%82%E3%81%AB%E3%82%88%E3%81%A3%E3%81%A6%E7%97%87%E7%8A%B6%E3%81%AF%E6%94%B9%E5%96%84%E3%81%97%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >Q. \u6cbb\u7642\u306b\u3088\u3063\u3066\u75c7\u72b6\u306f\u6539\u5584\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-19\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/glycine-encephalopathy-amt-overview\/#Q_%E4%B8%80%E9%81%8E%E6%80%A7%E5%9E%8B%E3%81%A8%E8%A8%BA%E6%96%AD%E3%81%95%E3%82%8C%E3%81%9F%E3%82%89%E3%80%81%E3%82%82%E3%81%86%E5%BF%83%E9%85%8D%E3%81%AF%E3%81%84%E3%82%8A%E3%81%BE%E3%81%9B%E3%82%93%E3%81%8B%E3%80%82\" >Q. \u4e00\u904e\u6027\u578b\u3068\u8a3a\u65ad\u3055\u308c\u305f\u3089\u3001\u3082\u3046\u5fc3\u914d\u306f\u3044\u308a\u307e\u305b\u3093\u304b\u3002<\/a><\/li><\/ul><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%82%B0%E3%83%AA%E3%82%B7%E3%83%B3%E8%84%B3%E7%97%87%E9%9D%9E%E3%82%B1%E3%83%88%E3%83%B3%E6%80%A7%E9%AB%98%E3%82%B0%E3%83%AA%E3%82%B7%E3%83%B3%E8%A1%80%E7%97%87%E3%81%A8%E3%81%AF\"><\/span>\u30b0\u30ea\u30b7\u30f3\u8133\u75c7(\u975e\u30b1\u30c8\u30f3\u6027\u9ad8\u30b0\u30ea\u30b7\u30f3\u8840\u75c7)\u3068\u306f<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u30b0\u30ea\u30b7\u30f3\u8133\u75c7\u306f\u3001\u30b0\u30ea\u30b7\u30f3\u3068\u3044\u3046\u30a2\u30df\u30ce\u9178\u304c\u4f53\u5185\u3001\u7279\u306b\u8133\u306b\u7570\u5e38\u306b\u305f\u307e\u308a\u3001\u795e\u7d4c\u306e\u50cd\u304d\u306b\u6df1\u523b\u306a\u5f71\u97ff\u3092\u53ca\u307c\u3059\u304d\u308f\u3081\u3066\u307e\u308c\u306a\u4ee3\u8b1d\u6027\u8133\u75be\u60a3\u3067\u3059\u3002<\/strong>\u6b63\u5f0f\u540d\u79f0\u306f\u30b0\u30ea\u30b7\u30f3\u8133\u75c7(Glycine Encephalopathy)\u3067\u3001\u975e\u30b1\u30c8\u30f3\u6027\u9ad8\u30b0\u30ea\u30b7\u30f3\u8840\u75c7(Nonketotic Hyperglycinemia:NKH)\u3001\u30b0\u30ea\u30b7\u30f3\u5408\u6210\u9175\u7d20\u6b20\u640d\u75c7\u306a\u3069\u306e\u5225\u540d\u3067\u3082\u547c\u3070\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u30b0\u30ea\u30b7\u30f3\u306f\u672c\u6765\u3001\u8133\u5185\u3067\u4fe1\u53f7\u3092\u4f1d\u3048\u308b\u795e\u7d4c\u4f1d\u9054\u7269\u8cea\u3068\u3057\u3066\u4f53\u306b\u5fc5\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3059\u7269\u8cea\u3067\u3059\u3002\u3068\u3053\u308d\u304c\u904e\u5270\u306b\u306a\u308b\u3068\u3001\u8133\u795e\u7d4c\u3092\u904e\u5ea6\u306b\u8208\u596e\u3055\u305b\u3001\u3051\u3044\u308c\u3093\u3084\u547c\u5438\u969c\u5bb3\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"25\" src=\"\/nipt\/wp-content\/uploads\/2025\/06\/AMT-hgtIdeo_genome_339e1f_b7d380-1024x25.png\" alt=\"AMT\u907a\u4f1d\u5b50\u306f\u7b2c3\u67d3\u8272\u4f53\u77ed\u8155(3p21.31)\u306b\u4f4d\u7f6e\u3057\u3066\u3044\u307e\u3059\" class=\"wp-image-101264\"\/><\/figure><\/div>\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306f\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u5185\u306b\u3042\u308b\u300c\u30b0\u30ea\u30b7\u30f3\u958b\u88c2\u7cfb(glycine cleavage system:GCS)\u300d\u3068\u3044\u3046\u4ed5\u7d44\u307f\u306e\u7570\u5e38\u306b\u3088\u3063\u3066\u8d77\u3053\u308a\u307e\u3059\u3002GCS\u306f\u8907\u6570\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u304c\u5354\u529b\u3057\u3066\u30b0\u30ea\u30b7\u30f3\u3092\u5206\u89e3\u3059\u308b\u9175\u7d20\u30b7\u30b9\u30c6\u30e0\u3067\u3001\u305d\u306e\u4e00\u90e8\u304c\u58ca\u308c\u308b\u3053\u3068\u3067\u767a\u75c7\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%8E%9F%E5%9B%A0%E3%83%BCAMT%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%A8%E3%82%B0%E3%83%AA%E3%82%B7%E3%83%B3%E9%96%8B%E8%A3%82%E7%B3%BB%E3%81%AE%E3%81%97%E3%81%8F%E3%81%BF\"><\/span>\u539f\u56e0\u30fcAMT\u907a\u4f1d\u5b50\u3068\u30b0\u30ea\u30b7\u30f3\u958b\u88c2\u7cfb\u306e\u3057\u304f\u307f<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>AMT\u907a\u4f1d\u5b50\u306f\u3001\u30b0\u30ea\u30b7\u30f3\u958b\u88c2\u7cfb\u3092\u69cb\u6210\u3059\u308b\u300cT\u30bf\u30f3\u30d1\u30af\u8cea\u300d\u3092\u4f5c\u308b\u305f\u3081\u306e\u8a2d\u8a08\u56f3\u3067\u3001\u7b2c3\u67d3\u8272\u4f53\u306e\u77ed\u8155(3p21.31)\u306b\u5b58\u5728\u3057\u307e\u3059\u3002<\/strong>\u3053\u306e\u9175\u7d20\u306f\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u306e\u4e2d\u3067\u30b0\u30ea\u30b7\u30f3\u3092\u5206\u89e3\u3059\u308b\u53cd\u5fdc\u306e\u4e00\u6bb5\u968e\u3092\u62c5\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>AMT\u907a\u4f1d\u5b50\u306b\u5909\u7570\u304c\u3042\u308b\u3068\u3001T\u30bf\u30f3\u30d1\u30af\u8cea\u304c\u3046\u307e\u304f\u4f5c\u3089\u308c\u305a\u3001\u30b0\u30ea\u30b7\u30f3\u958b\u88c2\u7cfb\u5168\u4f53\u306e\u50cd\u304d\u304c\u4f4e\u4e0b\u3057\u307e\u3059\u3002\u8a73\u3057\u3044\u907a\u4f1d\u5b50\u60c5\u5831\u306f\u3001\u7c73\u56fd\u56fd\u7acb\u533b\u5b66\u56f3\u66f8\u9928\u306e<a href=\"https:\/\/medlineplus.gov\/genetics\/gene\/amt\/\" target=\"_blank\" rel=\"noopener\">MedlinePlus Genetics\u306eAMT\u907a\u4f1d\u5b50\u306e\u89e3\u8aac<\/a>\u306b\u307e\u3068\u3081\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u305d\u306e\u7d50\u679c\u3001\u30b0\u30ea\u30b7\u30f3\u304c\u8133\u3084\u810a\u9ac4\u306a\u3069\u306b\u84c4\u7a4d\u3057\u3001\u795e\u7d4c\u7d30\u80de\u304c\u904e\u5270\u306b\u523a\u6fc0\u3055\u308c\u307e\u3059\u3002\u3053\u308c\u304c\u7a4d\u307f\u91cd\u306a\u308b\u3053\u3068\u3067\u3001\u795e\u7d4c\u7d30\u80de\u304c\u50b7\u3064\u304d\u3001\u3051\u3044\u308c\u3093\u3092\u306f\u3058\u3081\u3068\u3059\u308b\u3055\u307e\u3056\u307e\u306a\u795e\u7d4c\u75c7\u72b6\u304c\u3042\u3089\u308f\u308c\u308b\u6d41\u308c\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u30b0\u30ea\u30b7\u30f3\u958b\u88c2\u7cfb\u306b\u306fAMT\u306e\u307b\u304b\u306b\u3082\u95a2\u308f\u308b\u907a\u4f1d\u5b50\u304c\u3042\u308a\u307e\u3059\u3002\u305d\u308c\u305e\u308c\u306e\u5f79\u5272\u3092\u3001\u6b21\u306e\u7ae0\u3067\u898b\u3066\u3044\u304d\u307e\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"AMT%E5%9E%8B%E3%81%A8GLDC%E5%9E%8B%E3%81%AE%E9%81%95%E3%81%84%E3%83%BC%E5%8E%9F%E5%9B%A0%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%94%E3%81%A8%E3%81%AE%E7%89%B9%E5%BE%B4\"><\/span>AMT\u578b\u3068GLDC\u578b\u306e\u9055\u3044\u30fc\u539f\u56e0\u907a\u4f1d\u5b50\u3054\u3068\u306e\u7279\u5fb4<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u30b0\u30ea\u30b7\u30f3\u8133\u75c7\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u306fAMT\u30fbGLDC\u30fbGCSH\u306e3\u3064\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u983b\u5ea6\u304c\u3082\u3063\u3068\u3082\u9ad8\u3044\u306e\u306fGLDC\u578b\u3067\u3001AMT\u578b\u306f\u3053\u308c\u306b\u6b21\u3050\u7d0420%\u3092\u5360\u3081\u307e\u3059\u3002<\/strong>\u305d\u308c\u305e\u308c\u306e\u7279\u5fb4\u3092\u8868\u3067\u6574\u7406\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<figure class=\"wp-block-table\"><table><thead><tr><th>\u907a\u4f1d\u5b50<\/th><th>\u4f5c\u3089\u308c\u308b\u30bf\u30f3\u30d1\u30af\u8cea<\/th><th>\u67d3\u8272\u4f53\u306e\u4f4d\u7f6e<\/th><th>\u75c7\u4f8b\u306b\u5360\u3081\u308b\u304a\u304a\u3088\u305d\u306e\u5272\u5408<\/th><\/tr><\/thead><tbody><tr><td>GLDC<\/td><td>P\u30bf\u30f3\u30d1\u30af\u8cea(\u30b0\u30ea\u30b7\u30f3\u8131\u70ad\u9178\u9175\u7d20)<\/td><td>9p24.1<\/td><td>\u7d0475\u301c80%<\/td><\/tr><tr><td>AMT<\/td><td>T\u30bf\u30f3\u30d1\u30af\u8cea(\u30a2\u30df\u30ce\u30e1\u30c1\u30eb\u30c8\u30e9\u30f3\u30b9\u30d5\u30a7\u30e9\u30fc\u30bc)<\/td><td>3p21.31<\/td><td>\u7d0420%<\/td><\/tr><tr><td>GCSH<\/td><td>H\u30bf\u30f3\u30d1\u30af\u8cea<\/td><td>16q23.2<\/td><td>1%\u672a\u6e80<\/td><\/tr><\/tbody><\/table><figcaption>3\u3064\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u306f\u30b0\u30ea\u30b7\u30f3\u958b\u88c2\u7cfb\u3068\u3044\u3046\u540c\u3058\u9175\u7d20\u30b7\u30b9\u30c6\u30e0\u306e\u7570\u306a\u308b\u90e8\u54c1\u3092\u4f5c\u3063\u3066\u3044\u307e\u3059\u3002<\/figcaption><\/figure>\n\n\n\n<p>3\u3064\u306e\u907a\u4f1d\u5b50\u306f\u3044\u305a\u308c\u3082\u30b0\u30ea\u30b7\u30f3\u958b\u88c2\u7cfb\u3068\u3044\u3046\u540c\u3058\u4ed5\u7d44\u307f\u306e\u90e8\u54c1\u3092\u4f5c\u308b\u8a2d\u8a08\u56f3\u3067\u3059\u3002\u3069\u306e\u907a\u4f1d\u5b50\u306b\u5909\u7570\u304c\u3042\u3063\u3066\u3082\u3001\u6700\u7d42\u7684\u306b\u30b0\u30ea\u30b7\u30f3\u304c\u5206\u89e3\u3055\u308c\u305a\u84c4\u7a4d\u3059\u308b\u3068\u3044\u3046\u7d50\u679c\u306f\u5171\u901a\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u305d\u306e\u305f\u3081\u3001\u65b0\u751f\u5150\u671f\u306e\u91cd\u75c7\u578b\u30fb\u8efd\u75c7\u578b\u3068\u3044\u3063\u305f\u75c5\u578b\u306e\u5206\u985e\u306f\u3001\u539f\u56e0\u907a\u4f1d\u5b50\u304cAMT\u304bGLDC\u304b\u306b\u3088\u3063\u3066\u5358\u7d14\u306b\u6c7a\u307e\u308b\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u75c7\u72b6\u306e\u91cd\u3055\u306f\u3001\u907a\u4f1d\u5b50\u306e\u7a2e\u985e\u3088\u308a\u3082\u3001\u6b8b\u3063\u3066\u3044\u308b\u9175\u7d20\u6d3b\u6027\u306e\u7a0b\u5ea6\u306b\u5de6\u53f3\u3055\u308c\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u898b\u305f\u76ee\u306e\u75c7\u72b6\u3060\u3051\u3067\u3069\u3061\u3089\u306e\u907a\u4f1d\u5b50\u304c\u539f\u56e0\u304b\u3092\u5224\u65ad\u3059\u308b\u3053\u3068\u306f\u56f0\u96e3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3060\u304b\u3089\u3053\u305d\u3001\u78ba\u5b9a\u8a3a\u65ad\u306b\u306f\u907a\u4f1d\u5b50\u691c\u67fb\u304c\u91cd\u8981\u306a\u610f\u5473\u3092\u6301\u3061\u307e\u3059\u3002\u539f\u56e0\u907a\u4f1d\u5b50\u3092\u7279\u5b9a\u3067\u304d\u308c\u3070\u3001\u6b21\u306e\u304a\u5b50\u3055\u3093\u3078\u306e\u518d\u767a\u30ea\u30b9\u30af\u3092\u6b63\u78ba\u306b\u8a55\u4fa1\u3059\u308b\u624b\u304c\u304b\u308a\u306b\u306a\u308b\u307b\u304b\u3001\u907a\u4f1d\u5b50\u3054\u3068\u306b\u9032\u3080\u6cbb\u7642\u7814\u7a76\u306e\u5bfe\u8c61\u306b\u306a\u308a\u5f97\u308b\u304b\u3069\u3046\u304b\u306e\u5224\u65ad\u6750\u6599\u306b\u3082\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u306a\u304a\u3001\u30b0\u30ea\u30b7\u30f3\u958b\u88c2\u7cfb\u3068\u306f\u5225\u306e\u4ee3\u8b1d\u7d4c\u8def\u306b\u3082\u95a2\u308f\u308bDLD\u907a\u4f1d\u5b50(\u30b8\u30d2\u30c9\u30ed\u30ea\u30dd\u30a2\u30df\u30c9\u30c7\u30d2\u30c9\u30ed\u30b2\u30ca\u30fc\u30bc)\u304c\u95a2\u4fc2\u3059\u308b\u4f8b\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u3053\u3061\u3089\u306f\u3055\u3089\u306b\u307e\u308c\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%BA%E4%BC%9D%E3%81%AE%E4%BB%95%E7%B5%84%E3%81%BF%E3%83%BC%E5%B8%B8%E6%9F%93%E8%89%B2%E4%BD%93%E6%BD%9C%E6%80%A7%E9%81%BA%E4%BC%9D\"><\/span>\u907a\u4f1d\u306e\u4ed5\u7d44\u307f\u30fc\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>AMT\u578b\u3092\u542b\u3080\u30b0\u30ea\u30b7\u30f3\u8133\u75c7\u306f\u3001\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u3068\u3044\u3046\u5f62\u5f0f\u3092\u3068\u308a\u307e\u3059\u3002<\/strong>\u4e21\u89aa\u304b\u3089\u305d\u308c\u305e\u308c\u5909\u7570\u306e\u3042\u308b\u907a\u4f1d\u5b50\u30921\u3064\u305a\u3064\u53d7\u3051\u7d99\u3044\u3060\u5834\u5408\u306b\u306e\u307f\u767a\u75c7\u3059\u308b\u907a\u4f1d\u5f62\u5f0f\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u7247\u65b9\u306e\u5909\u7570\u3060\u3051\u3092\u53d7\u3051\u7d99\u3044\u3060\u4eba\u306f\u300c\u4fdd\u56e0\u8005\u300d\u3068\u547c\u3070\u308c\u3001\u901a\u5e38\u306f\u75c7\u72b6\u304c\u51fa\u307e\u305b\u3093\u3002\u4e21\u89aa\u304c\u3068\u3082\u306b\u4fdd\u56e0\u8005\u3067\u3042\u308b\u5834\u5408\u300125%\u306e\u78ba\u7387\u3067\u5b50\u3069\u3082\u304c\u767a\u75c7\u3057\u300150%\u306e\u78ba\u7387\u3067\u75c7\u72b6\u306e\u306a\u3044\u4fdd\u56e0\u8005\u306b\u306a\u308a\u300125%\u306e\u78ba\u7387\u3067\u5909\u7570\u3092\u53d7\u3051\u7d99\u304e\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u300c\u79c1\u305f\u3061\u592b\u5a66\u306e\u5bb6\u7cfb\u306b\u3001\u540c\u3058\u75c5\u6c17\u306e\u4eba\u306f\u3044\u306a\u3044\u306e\u306b\u300d\u3068\u8a71\u3059\u3054\u4e21\u89aa\u306b\u51fa\u4f1a\u3046\u3053\u3068\u3082\u5c11\u306a\u304f\u3042\u308a\u307e\u305b\u3093\u3002\u6f5c\u6027\u907a\u4f1d\u306e\u75c5\u6c17\u306f\u3001\u4e21\u89aa\u306e\u3069\u3061\u3089\u306b\u3082\u81ea\u899a\u75c7\u72b6\u304c\u306a\u3044\u307e\u307e\u3001\u5b50\u3069\u3082\u306b\u75c7\u72b6\u304c\u73fe\u308c\u308b\u70b9\u304c\u7279\u5fb4\u3067\u3059\u3002\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u306e\u57fa\u672c\u7684\u306a\u8003\u3048\u65b9\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autosomal-recessive-genetics-support\/\">\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u3068\u306f<\/a>\u306e\u8a18\u4e8b\u3067\u3082\u8a73\u3057\u304f\u89e3\u8aac\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%B8%BB%E3%81%AA%E7%97%87%E7%8A%B6%E3%83%BC%E6%96%B0%E7%94%9F%E5%85%90%E6%9C%9F%E3%81%8B%E3%82%89%E7%8F%BE%E3%82%8C%E3%82%8B4%E3%81%A4%E3%81%AE%E7%97%85%E5%9E%8B\"><\/span>\u4e3b\u306a\u75c7\u72b6\u30fc\u65b0\u751f\u5150\u671f\u304b\u3089\u73fe\u308c\u308b4\u3064\u306e\u75c5\u578b<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u30b0\u30ea\u30b7\u30f3\u8133\u75c7\u306e\u75c7\u72b6\u306f\u3001\u767a\u75c7\u3059\u308b\u6642\u671f\u3084\u91cd\u3055\u306b\u3088\u3063\u3066\u91cd\u75c7\u578b\u30fb\u8efd\u75c7\u578b\u30fb\u6669\u767a\u578b\u30fb\u4e00\u904e\u6027\u578b\u306e4\u3064\u306b\u5206\u3051\u3089\u308c\u307e\u3059\u3002<\/strong>\u3082\u3063\u3068\u3082\u591a\u3044\u306e\u306f\u3001\u751f\u5f8c\u307e\u3082\u306a\u304f\u767a\u75c7\u3059\u308b\u91cd\u75c7\u578b\u3067\u3059\u3002<\/p>\n\n\n\n<figure class=\"wp-block-table\"><table><thead><tr><th>\u75c5\u578b<\/th><th>\u767a\u75c7\u6642\u671f<\/th><th>\u4e3b\u306a\u75c7\u72b6<\/th><\/tr><\/thead><tbody><tr><td>\u91cd\u75c7\u578b(\u65b0\u751f\u5150\u578b)<\/td><td>\u751f\u5f8c2\u301c5\u65e5\u4ee5\u5185<\/td><td>\u5f37\u3044\u7720\u6c17\u3001\u4f4e\u7dca\u5f35\u3001\u30df\u30aa\u30af\u30ed\u30fc\u30cc\u30b9\u767a\u4f5c\u3001\u7121\u547c\u5438\u3001\u6301\u7d9a\u3059\u308b\u3057\u3083\u3063\u304f\u308a\u3001\u660f\u7761<\/td><\/tr><tr><td>\u8efd\u75c7\u578b(\u7de9\u5f90\u9032\u884c\u578b)<\/td><td>\u65b0\u751f\u5150\u671f\u301c\u4e73\u5150\u671f<\/td><td>\u767a\u9054\u306e\u9045\u308c\u3001\u8efd\u3044\u3051\u3044\u308c\u3093\u3001\u75d9\u7e2e\u3001\u821e\u8e0f\u904b\u52d5\u306a\u3069\u3002\u4e00\u90e8\u306e\u767a\u9054\u304c\u307f\u3089\u308c\u308b<\/td><\/tr><tr><td>\u6669\u767a\u578b(\u307e\u308c)<\/td><td>2\u6b73\u4ee5\u964d<\/td><td>\u8996\u795e\u7d4c\u840e\u7e2e\u3001\u75d9\u6027\u4e21\u9ebb\u75fa\u3001\u8a8d\u77e5\u969c\u5bb3<\/td><\/tr><tr><td>\u4e00\u904e\u6027\u578b(\u3054\u304f\u307e\u308c)<\/td><td>\u751f\u5f8c\u6570\u9031\u9593<\/td><td>\u4e00\u6642\u7684\u306a\u75c7\u72b6\u306e\u5f8c\u3001\u81ea\u7136\u306b\u56de\u5fa9\u3059\u308b\u3053\u3068\u304c\u591a\u3044<\/td><\/tr><\/tbody><\/table><figcaption>\u75c5\u578b\u306b\u3088\u3063\u3066\u767a\u75c7\u6642\u671f\u3068\u75c7\u72b6\u306e\u91cd\u3055\u304c\u5927\u304d\u304f\u7570\u306a\u308a\u307e\u3059\u3002<\/figcaption><\/figure>\n\n\n\n<p>\u91cd\u75c7\u578b\u3067\u306f\u3001\u8133\u6ce2\u691c\u67fb\u3067\u30d0\u30fc\u30b9\u30c8\u30fb\u30b5\u30d7\u30ec\u30c3\u30b7\u30e7\u30f3\u30d1\u30bf\u30fc\u30f3\u3068\u547c\u3070\u308c\u308b\u7279\u5fb4\u7684\u306a\u6ce2\u5f62\u304c\u307f\u3089\u308c\u3001MRI\u3067\u306f\u8133\u6881(\u306e\u3046\u308a\u3087\u3046)\u306e\u5f62\u6210\u7570\u5e38\u3084\u3001\u5c0f\u8133\u30fb\u8133\u5e79\u306e\u4fe1\u53f7\u7570\u5e38\u304c\u78ba\u8a8d\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8efd\u75c7\u578b\u3067\u306f\u3001\u767a\u9054\u306e\u9045\u308c\u306f\u3042\u308b\u3082\u306e\u306e\u4e00\u90e8\u306e\u904b\u52d5\u3084\u8a00\u8a9e\u306e\u767a\u9054\u304c\u307f\u3089\u308c\u3001\u6ce8\u610f\u6b20\u5982\u3084\u624b\u8db3\u306e\u3064\u3063\u3071\u308a\u3092\u4f34\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u4e00\u904e\u6027\u578b\u306f\u3001\u809d\u81d3\u3084\u8133\u306e\u9175\u7d20\u306e\u6210\u719f\u306e\u9045\u308c\u304c\u539f\u56e0\u3068\u8003\u3048\u3089\u308c\u3066\u304a\u308a\u3001\u6bd4\u8f03\u7684\u826f\u597d\u306a\u7d4c\u904e\u3092\u305f\u3069\u308a\u307e\u3059\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/learning-disabilities-genetics-support\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u5b66\u7fd2\u969c\u5bb3\uff08LD\uff09\u3068\u907a\u4f1d\u306e\u3057\u304f\u307f\uff1a\u75c7\u72b6\u30fb\u8a3a\u65ad\u30fb\u652f\u63f4\u306e\u3059\u3079\u3066 <\/div>\n          <div class=\"blog-card-excerpt\">\u5b66\u7fd2\u969c\u5bb3\uff08LD\uff09\u306e\u907a\u4f1d\u7684\u8981\u56e0\u3084\u75c7\u72b6\u306e\u7a2e\u985e\uff08\u30c7\u30a3\u30b9\u30ec\u30af\u30b7\u30a2\u30fb\u30c7\u30a3\u30b9\u30b0\u30e9\u30d5\u30a3\u30a2\u30fb\u30c7\u30a3\u30b9\u30ab\u30ea\u30ad\u30e5\u30ea\u30a2\uff09\u3001\u8a3a\u65ad\u65b9\u6cd5\u3001\u5b66\u6821\u3084\u5bb6\u5ead\u3067\u306e\u652f\u63f4\u65b9\u6cd5\u307e\u3067\u8a73\u3057\u304f...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%96%AB%E5%AD%A6%E3%83%BC%E4%B8%96%E7%95%8C%E3%81%A7%E3%81%AE%E7%99%BA%E7%97%87%E9%A0%BB%E5%BA%A6\"><\/span>\u75ab\u5b66\u30fc\u4e16\u754c\u3067\u306e\u767a\u75c7\u983b\u5ea6<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u30b0\u30ea\u30b7\u30f3\u8133\u75c7\u306f\u4e16\u754c\u7684\u306b\u898b\u3066\u3082\u304d\u308f\u3081\u3066\u307e\u308c\u306a\u75c5\u6c17\u3067\u3001\u5730\u57df\u306b\u3088\u3063\u3066\u767a\u75c7\u983b\u5ea6\u306b\u5dee\u304c\u3042\u308a\u307e\u3059\u3002<\/strong>\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u4e3b\u306a\u6570\u5024\u306f\u6b21\u306e\u3068\u304a\u308a\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u30d5\u30a3\u30f3\u30e9\u30f3\u30c9:5.5\u4e07\u4eba\u306b1\u4eba<\/li>\n\n\n\n<li>\u30ab\u30ca\u30c0(\u30d6\u30ea\u30c6\u30a3\u30c3\u30b7\u30e5\u30fb\u30b3\u30ed\u30f3\u30d3\u30a2\u5dde):6.3\u4e07\u4eba\u306b1\u4eba<\/li>\n\n\n\n<li>\u4e16\u754c\u7684\u306a\u63a8\u5b9a:7.6\u4e07\u4eba\u306b1\u4eba<\/li>\n\n\n\n<li>\u5317\u30d5\u30a3\u30f3\u30e9\u30f3\u30c9:1.2\u4e07\u4eba\u306b1\u4eba(\u5c40\u6240\u7684\u306b\u591a\u3044\u5730\u57df)<\/li>\n\n\n\n<li>\u53f0\u6e7e:\u51fa\u751f10\u4e07\u4eba\u3042\u305f\u308a7.2\u4eba<\/li>\n<\/ul>\n\n\n\n<p>\u3053\u306e\u3046\u3061AMT\u907a\u4f1d\u5b50\u304c\u539f\u56e0\u3068\u306a\u308b\u306e\u306f\u3001\u5168\u4f53\u306e\u7d0420%\u3067\u3059\u3002\u7279\u5b9a\u306e\u5730\u57df\u3067\u983b\u5ea6\u304c\u9ad8\u304f\u306a\u308b\u80cc\u666f\u306b\u3042\u308b\u306e\u306f\u3001\u540c\u3058\u5909\u7570\u3092\u6301\u3064\u7956\u5148\u304b\u3089\u4e16\u4ee3\u3092\u8d85\u3048\u3066\u53d7\u3051\u7d99\u304c\u308c\u3066\u304d\u305f\u300c\u5275\u59cb\u8005\u52b9\u679c\u300d\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%A4%9C%E6%9F%BB%E3%83%BB%E8%A8%BA%E6%96%AD%E3%81%AE%E6%B5%81%E3%82%8C\"><\/span>\u691c\u67fb\u30fb\u8a3a\u65ad\u306e\u6d41\u308c<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u8a3a\u65ad\u306e\u51fa\u767a\u70b9\u306f\u3001\u539f\u56e0\u4e0d\u660e\u306e\u3051\u3044\u308c\u3093\u30fb\u7121\u547c\u5438\u30fb\u7b4b\u529b\u4f4e\u4e0b\u3068\u3044\u3063\u305f\u75c7\u72b6\u306b\u6c17\u3065\u304f\u3053\u3068\u3067\u3059\u3002<\/strong>\u8840\u6db2\u30fb\u8133\u810a\u9ac4\u6db2\u30fb\u753b\u50cf\u30fb\u907a\u4f1d\u5b50\u306e\u5404\u691c\u67fb\u3092\u7d44\u307f\u5408\u308f\u305b\u3066\u78ba\u5b9a\u8a3a\u65ad\u306b\u9032\u307f\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8840\u6db2\u30fb\u8133\u810a\u9ac4\u6db2\u306e\u691c\u67fb\u3067\u306f\u3001\u8840\u6f3f\u30b0\u30ea\u30b7\u30f3\u6fc3\u5ea6\u304c\u901a\u5e38\u3088\u308a\u9ad8\u5024(426\u03bcmol\/L\u3092\u8d85\u3048\u308b)\u3068\u306a\u308a\u3001\u91cd\u75c7\u4f8b\u3067\u306f\u9ac4\u6db2\u30b0\u30ea\u30b7\u30f3\u6fc3\u5ea6\u304c230\u03bcmol\/L\u3092\u8d85\u3048\u308b\u3053\u3068\u304c\u591a\u3044\u3068\u3055\u308c\u307e\u3059\u3002\u9ac4\u6db2\u3068\u8840\u6f3f\u306e\u30b0\u30ea\u30b7\u30f3\u6bd4\u304c0.08\u3092\u8d85\u3048\u308b\u5834\u5408\u3001NKH\u304c\u5f37\u304f\u7591\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u753b\u50cf\u691c\u67fb\u3067\u306f\u3001MRI\u3067\u8133\u6881\u306e\u5f62\u6210\u4e0d\u5168\u3084\u5c0f\u8133\u30fb\u8133\u5e79\u306e\u7570\u5e38\u3001\u8133\u840e\u7e2e\u306a\u3069\u304c\u78ba\u8a8d\u3055\u308c\u307e\u3059\u3002MRS(\u78c1\u6c17\u5171\u9cf4\u5206\u5149\u6cd5)\u3067\u306f\u3001\u30b0\u30ea\u30b7\u30f3\u306b\u7279\u5fb4\u7684\u306a\u30d4\u30fc\u30af(3.6ppm\u4ed8\u8fd1)\u3092\u691c\u51fa\u3067\u304d\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u907a\u4f1d\u5b50\u691c\u67fb\u3067\u306f\u3001GLDC\u30fbAMT\u30fbGCSH\u3092\u307e\u3068\u3081\u3066\u8abf\u3079\u308b\u30de\u30eb\u30c1\u30d1\u30cd\u30eb\u691c\u67fb\u304c\u6709\u52b9\u3067\u3059\u3002\u8a3a\u65ad\u304c\u3064\u304b\u306a\u3044\u5834\u5408\u306f\u3001\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790(Whole Exome Sequencing)\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002\u5bb6\u65cf\u6b74\u304c\u3042\u308b\u5834\u5408\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u3084\u4fdd\u56e0\u8005\u691c\u67fb\u3082\u9078\u629e\u80a2\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"text-align:center;margin:2em 0;\"><a href=\"https:\/\/mypage-nipt-reservation.hiro-clinic.or.jp\/registration\" target=\"_blank\" rel=\"noopener\" style=\"display:inline-block;padding:0.8em 2em;background:#e8608a;color:#fff;border-radius:30px;text-decoration:none;font-weight:bold;\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30afNIPT\u306e\u4e88\u7d04\u306f\u3053\u3061\u3089<\/a><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"NIPT%E6%96%B0%E5%9E%8B%E5%87%BA%E7%94%9F%E5%89%8D%E8%A8%BA%E6%96%AD%E3%81%A8%E3%81%AE%E9%96%A2%E4%BF%82\"><\/span>NIPT(\u65b0\u578b\u51fa\u751f\u524d\u8a3a\u65ad)\u3068\u306e\u95a2\u4fc2<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>AMT\u578b\u3092\u542b\u3080\u30b0\u30ea\u30b7\u30f3\u8133\u75c7\u306f\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u3067\u3042\u308a\u3001\u67d3\u8272\u4f53\u306e\u6570\u7684\u7570\u5e38\u3092\u8abf\u3079\u308b\u6a19\u6e96\u7684\u306aNIPT\u306e\u5bfe\u8c61\u306b\u306f\u542b\u307e\u308c\u307e\u305b\u3093\u3002<\/strong>NIPT\u306f\u6bcd\u4f53\u306e\u8840\u6db2\u4e2d\u306b\u542b\u307e\u308c\u308b\u80ce\u5150\u7531\u6765\u306eDNA\u65ad\u7247\u3092\u89e3\u6790\u3057\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/patau-syndrome\/\">13\u30c8\u30ea\u30bd\u30df\u30fc<\/a>\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/edwards-syndrome\/\">18\u30c8\u30ea\u30bd\u30df\u30fc<\/a>\u30fb21\u30c8\u30ea\u30bd\u30df\u30fc\u306a\u3069\u67d3\u8272\u4f53\u306e\u6570\u306e\u5909\u5316\u3092\u8abf\u3079\u308b\u975e\u78ba\u5b9a\u7684\u691c\u67fb\u3067\u3059\u3002AMT\u907a\u4f1d\u5b50\u306e\u4e2d\u306e\u5909\u7570\u3092\u76f4\u63a5\u8aad\u307f\u53d6\u308b\u4ed5\u7d44\u307f\u306b\u306f\u306a\u3063\u3066\u3044\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001AMT\u578b\u306f\u51fa\u751f\u5f8c\u306e\u65b0\u751f\u5150\u30de\u30b9\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3067\u3082\u898b\u3064\u304b\u308a\u306b\u304f\u3044\u75c5\u6c17\u3067\u3059\u3002\u65e5\u672c\u306e\u30bf\u30f3\u30c7\u30e0\u30de\u30b9\u6cd5\u306b\u3088\u308b\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u306f\u4e3b\u306b\u6709\u6a5f\u9178\u30fb\u8102\u80aa\u9178\u30fb\u4e00\u90e8\u306e\u30a2\u30df\u30ce\u9178\u4ee3\u8b1d\u7570\u5e38\u3092\u5bfe\u8c61\u3068\u3057\u3066\u3044\u307e\u3059\u304c\u3001\u30b0\u30ea\u30b7\u30f3\u8133\u75c7\u306f\u5bfe\u8c61\u75be\u60a3\u306b\u542b\u307e\u308c\u3066\u3044\u307e\u305b\u3093\u3002\u8a3a\u65ad\u306e\u51fa\u767a\u70b9\u306f\u3001\u3042\u304f\u307e\u3067\u751f\u5f8c\u306e\u3051\u3044\u308c\u3093\u306a\u3069\u75c7\u72b6\u3078\u306e\u6c17\u3065\u304d\u3067\u3059\u3002<\/p>\n\n\n\n<figure class=\"wp-block-image aligncenter\" style=\"margin:1.5rem auto;\">\n<svg role=\"img\" aria-label=\"\u6a19\u6e96\u7684\u306aNIPT\u306f\u67d3\u8272\u4f53\u306e\u6570\u7684\u7570\u5e38\u3092\u8abf\u3079\u308b\u691c\u67fb\u3067\u3042\u308a\u3001AMT\u578b\u30b0\u30ea\u30b7\u30f3\u8133\u75c7\u306e\u3088\u3046\u306a\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u306f\u51fa\u751f\u5f8c\u306e\u3051\u3044\u308c\u3093\u306a\u3069\u75c7\u72b6\u3092\u304d\u3063\u304b\u3051\u306b\u8a3a\u65ad\u3055\u308c\u308b\u4ed5\u7d44\u307f\u3067\u3042\u308b\u3053\u3068\u3092\u793a\u3059\u56f3\" viewBox=\"0 0 720 260\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" style=\"max-width:720px;width:100%;height:auto;font-family:sans-serif;\">\n  <rect x=\"0\" y=\"0\" width=\"720\" height=\"260\" fill=\"#fff9fb\"\/>\n  <text x=\"360\" y=\"36\" text-anchor=\"middle\" font-size=\"19\" fill=\"#5a2b3a\">NIPT\u3068\u51fa\u751f\u5f8c\u306e\u8a3a\u65ad\u3001\u5f79\u5272\u306e\u9055\u3044<\/text>\n  <rect x=\"60\" y=\"65\" width=\"270\" height=\"150\" rx=\"14\" fill=\"#f6b8cd\"\/>\n  <text x=\"195\" y=\"98\" text-anchor=\"middle\" font-size=\"16\" fill=\"#5a2b3a\"><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>(\u598a\u5a20\u4e2d)<\/text>\n  <text x=\"195\" y=\"128\" text-anchor=\"middle\" font-size=\"13\" fill=\"#5a2b3a\">\u6bcd\u4f53\u306e\u8840\u6db2\u3092\u691c\u67fb<\/text>\n  <text x=\"195\" y=\"152\" text-anchor=\"middle\" font-size=\"13\" fill=\"#9a6070\">\u67d3\u8272\u4f53\u306e\u6570\u7684\u7570\u5e38\u304c\u5bfe\u8c61<\/text>\n  <text x=\"195\" y=\"176\" text-anchor=\"middle\" font-size=\"13\" fill=\"#9a6070\">AMT\u578b\u306f\u57fa\u672c\u691c\u67fb\u306e\u5bfe\u8c61\u5916<\/text>\n  <text x=\"195\" y=\"200\" text-anchor=\"middle\" font-size=\"13\" fill=\"#9a6070\">\u975e\u78ba\u5b9a\u7684\u691c\u67fb<\/text>\n  <text x=\"395\" y=\"145\" text-anchor=\"middle\" font-size=\"24\" fill=\"#9a6070\">\u2192<\/text>\n  <rect x=\"420\" y=\"65\" width=\"270\" height=\"150\" rx=\"14\" fill=\"#fbe1eb\"\/>\n  <text x=\"555\" y=\"98\" text-anchor=\"middle\" font-size=\"16\" fill=\"#5a2b3a\">\u51fa\u751f\u5f8c\u306e\u8a3a\u65ad<\/text>\n  <text x=\"555\" y=\"128\" text-anchor=\"middle\" font-size=\"13\" fill=\"#5a2b3a\">\u3051\u3044\u308c\u3093\u306a\u3069\u75c7\u72b6\u3067\u6c17\u3065\u304f<\/text>\n  <text x=\"555\" y=\"152\" text-anchor=\"middle\" font-size=\"13\" fill=\"#9a6070\">\u30de\u30b9\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u5bfe\u8c61\u5916<\/text>\n  <text x=\"555\" y=\"176\" text-anchor=\"middle\" font-size=\"13\" fill=\"#9a6070\">\u8840\u6db2\u30fb\u8133\u810a\u9ac4\u6db2\u30fb\u907a\u4f1d\u5b50\u691c\u67fb\u3067\u78ba\u5b9a<\/text>\n  <text x=\"555\" y=\"200\" text-anchor=\"middle\" font-size=\"13\" fill=\"#9a6070\">GLDC\/AMT\/GCSH\u3092\u89e3\u6790<\/text>\n<\/svg>\n<figcaption><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>(\u598a\u5a20\u4e2d\u306e\u67d3\u8272\u4f53\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0)\u3068\u51fa\u751f\u5f8c\u306e\u75c7\u72b6\u3092\u304d\u3063\u304b\u3051\u3068\u3057\u305f\u8a3a\u65ad\u3001\u305d\u308c\u305e\u308c\u306e\u5f79\u5272\u306e\u9055\u3044\u3002<\/figcaption>\n<\/figure>\n\n\n\n<figure class=\"wp-block-table\"><table><thead><tr><th>\u691c\u67fb<\/th><th>\u5b9f\u65bd\u6642\u671f<\/th><th>\u8abf\u3079\u65b9<\/th><th>AMT\u578b\u30b0\u30ea\u30b7\u30f3\u8133\u75c7\u3068\u306e\u95a2\u4fc2<\/th><\/tr><\/thead><tbody><tr><td>\u6a19\u6e96\u7684\u306aNIPT<\/td><td>\u598a\u5a20\u4e2d<\/td><td>\u6bcd\u4f53\u8840\u4e2d\u306e\u80ce\u5150\u7531\u6765DNA\u3067\u67d3\u8272\u4f53\u306e\u6570\u3092\u89e3\u6790<\/td><td>\u5bfe\u8c61\u5916(\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u306f\u7bc4\u56f2\u5916)<\/td><\/tr><tr><td>\u62e1\u5927NIPT(\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u30d7\u30e9\u30f3)<\/td><td>\u598a\u5a20\u4e2d<\/td><td>\u3042\u3089\u304b\u3058\u3081\u9078\u5b9a\u3057\u305f\u907a\u4f1d\u5b50\u7fa4\u3092\u89e3\u6790<\/td><td>\u30d7\u30e9\u30f3\u306e\u5bfe\u8c61\u7bc4\u56f2\u306b\u3088\u308b\u3002\u500b\u5225\u78ba\u8a8d\u304c\u5fc5\u8981<\/td><\/tr><tr><td>\u65b0\u751f\u5150\u30de\u30b9\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0<\/td><td>\u751f\u5f8c5\u301c7\u65e5<\/td><td>\u30bf\u30f3\u30c7\u30e0\u30de\u30b9\u6cd5\u3067\u8907\u6570\u306e\u4ee3\u8b1d\u7570\u5e38\u3092\u691c\u51fa<\/td><td>\u5bfe\u8c61\u75be\u60a3\u306b\u542b\u307e\u308c\u305a\u3001\u75c7\u72b6\u3067\u306e\u6c17\u3065\u304d\u304c\u51fa\u767a\u70b9<\/td><\/tr><\/tbody><\/table><figcaption>\u598a\u5a20\u4e2d\u30fb\u51fa\u751f\u5f8c\u3001\u3044\u305a\u308c\u306e\u6a19\u6e96\u691c\u67fb\u3067\u3082AMT\u578b\u30b0\u30ea\u30b7\u30f3\u8133\u75c7\u306f\u76f4\u63a5\u306e\u5bfe\u8c61\u306b\u306a\u308a\u306b\u304f\u3044\u70b9\u306b\u6ce8\u610f\u304c\u5fc5\u8981\u3067\u3059\u3002<\/figcaption><\/figure>\n\n\n\n<p>\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30afNIPT\u3067\u306f\u3001\u57fa\u672c\u691c\u67fb\u306b\u52a0\u3048\u3066\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3200\u7a2e\u4ee5\u4e0a\u3092\u5bfe\u8c61\u3068\u3059\u308b\u62e1\u5927\u30d7\u30e9\u30f3\u3082\u7528\u610f\u3057\u3066\u3044\u307e\u3059\u3002\u30d7\u30e9\u30f3\u306b\u3088\u3063\u3066AMT\u95a2\u9023\u306e\u7570\u5e38\u307e\u3067\u5bfe\u8c61\u306b\u542b\u3080\u304b\u3069\u3046\u304b\u306f\u7570\u306a\u308b\u305f\u3081\u3001\u691c\u8a0e\u3057\u3066\u3044\u308b\u691c\u67fb\u30d7\u30e9\u30f3\u306e\u5bfe\u8c61\u7bc4\u56f2\u306f\u3001\u691c\u67fb\u3092\u53d7\u3051\u308b\u65bd\u8a2d\u306b\u76f4\u63a5\u78ba\u8a8d\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<p>NIPT\u306f\u3042\u304f\u307e\u3067\u975e\u78ba\u5b9a\u7684\u306a\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u691c\u67fb\u3067\u3059\u3002\u6c17\u306b\u306a\u308b\u6240\u898b\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\u3054\u592b\u5a66\u304c\u3059\u3067\u306bAMT\u306e\u4fdd\u56e0\u8005\u3068\u5224\u660e\u3057\u3066\u3044\u308b\u5834\u5408\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u306b\u3088\u308b\u907a\u4f1d\u5b50\u89e3\u6790\u3067\u8d64\u3061\u3083\u3093\u306e\u72b6\u614b\u3092\u78ba\u5b9a\u7684\u306b\u8abf\u3079\u308b\u9078\u629e\u80a2\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4eca\u56de\u3001AMT\u578b\u30b0\u30ea\u30b7\u30f3\u8133\u75c7\u306b\u95a2\u3059\u308b\u56fd\u5185\u306e\u5b9f\u4f53\u9a13\u306e\u6295\u7a3f\u3092X(\u65e7Twitter)\u3067\u63a2\u3057\u307e\u3057\u305f\u304c\u3001\u76f4\u8fd1\u306e\u671f\u9593\u3067\u306f\u533b\u7642\u5f53\u4e8b\u8005\u306b\u3088\u308b\u8a72\u5f53\u306e\u6295\u7a3f\u306f\u898b\u5f53\u305f\u308a\u307e\u305b\u3093\u3067\u3057\u305f\u3002\u75c7\u4f8b\u6570\u304c\u304d\u308f\u3081\u3066\u5c11\u306a\u3044\u305f\u3081\u3001\u4e00\u6b21\u60c5\u5831\u3068\u3057\u3066\u5f97\u3089\u308c\u308b\u500b\u4eba\u306e\u767a\u4fe1\u306f\u9650\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u672c\u8a18\u4e8b\u3067\u306f\u4ee3\u308f\u308a\u306b\u3001\u7c73\u56fd\u56fd\u7acb\u533b\u5b66\u56f3\u66f8\u9928\u306eGeneReviews\u30fbMedlinePlus Genetics\u3001GARD(\u7c73\u56fd\u56fd\u7acb\u885b\u751f\u7814\u7a76\u6240\u306e\u5e0c\u5c11\u75be\u60a3\u60c5\u5831\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9)\u3001\u65e5\u672c\u5148\u5929\u4ee3\u8b1d\u7570\u5e38\u5b66\u4f1a\u306e\u8a3a\u7642\u30ac\u30a4\u30c9\u30e9\u30a4\u30f3\u3068\u3044\u3063\u305f\u516c\u7684\u30fb\u5b66\u8853\u60c5\u5831\u6e90\u3092\u6839\u62e0\u3068\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%B2%BB%E7%99%82%E6%B3%95%E3%81%A8%E7%AE%A1%E7%90%86\"><\/span>\u6cbb\u7642\u6cd5\u3068\u7ba1\u7406<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u73fe\u5728\u306e\u3068\u3053\u308d\u3001AMT\u907a\u4f1d\u5b50\u306e\u7570\u5e38\u305d\u306e\u3082\u306e\u3092\u4fee\u5fa9\u3059\u308b\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u8907\u6570\u306e\u65b9\u6cd5\u3067\u75c7\u72b6\u306e\u7de9\u548c\u304c\u671f\u5f85\u3067\u304d\u307e\u3059\u3002<\/strong>\u6cbb\u7642\u306e\u4e2d\u5fc3\u306f\u3001\u30b0\u30ea\u30b7\u30f3\u3092\u6e1b\u3089\u3059\u85ac\u3068\u3051\u3044\u308c\u3093\u306e\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3067\u3059\u3002<\/p>\n\n\n\n<figure class=\"wp-block-table\"><table><thead><tr><th>\u6cbb\u7642\u6cd5<\/th><th>\u5185\u5bb9<\/th><th>\u5099\u8003<\/th><\/tr><\/thead><tbody><tr><td>\u30d9\u30f3\u30be\u30a8\u30fc\u30c8\u30ca\u30c8\u30ea\u30a6\u30e0<\/td><td>\u4f53\u5185\u306e\u4f59\u5206\u306a\u30b0\u30ea\u30b7\u30f3\u3068\u7d50\u3073\u3064\u304d\u3001\u5c3f\u304b\u3089\u6392\u51fa\u3055\u305b\u308b<\/td><td>\u6295\u4e0e\u91cf\u76ee\u5b89200\u301c750mg\/kg\/\u65e5\u3002\u526f\u4f5c\u7528\u306f\u80c3\u8178\u969c\u5bb3\u30fb\u30ab\u30eb\u30cb\u30c1\u30f3\u4e0d\u8db3<\/td><\/tr><tr><td>\u30c7\u30ad\u30b9\u30c8\u30ed\u30e1\u30c8\u30eb\u30d5\u30a1\u30f3<\/td><td>NMDA\u53d7\u5bb9\u4f53\u3092\u963b\u5bb3\u3057\u3001\u8133\u306e\u904e\u5270\u8208\u596e\u3092\u6291\u3048\u308b<\/td><td>\u4f7f\u7528\u91cf\u76ee\u5b893\u301c15mg\/kg\/\u65e5<\/td><\/tr><tr><td>\u305d\u306e\u4ed6\u306eNMDA\u963b\u5bb3\u85ac<\/td><td>\u30b1\u30bf\u30df\u30f3\u3001\u30d5\u30a7\u30eb\u30d0\u30e1\u30fc\u30c8\u306a\u3069<\/td><td>\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u4f7f\u7528\u3092\u691c\u8a0e<\/td><\/tr><tr><td>\u3051\u3044\u308c\u3093\u306e\u7ba1\u7406<\/td><td>\u30d9\u30f3\u30be\u30a8\u30fc\u30c8+\u30c7\u30ad\u30b9\u30c8\u30ed\u30e1\u30c8\u30eb\u30d5\u30a1\u30f3\u00b1\u30af\u30ed\u30d0\u30b6\u30e0<\/td><td>\u96e3\u6cbb\u6027\u306e\u5834\u5408\u306f\u30b1\u30c8\u30f3\u98df\u7642\u6cd5\u3084\u8ff7\u8d70\u795e\u7d4c\u523a\u6fc0\u7642\u6cd5\u3082\u691c\u8a0e<\/td><\/tr><tr><td>\u652f\u6301\u7684\u30b1\u30a2<\/td><td>\u7406\u5b66\u7642\u6cd5\u30fb\u4f5c\u696d\u7642\u6cd5\u30fb\u8a00\u8a9e\u7642\u6cd5\u3001\u7d4c\u7ba1\u6804\u990a\u3001\u6559\u80b2\u652f\u63f4<\/td><td>\u547c\u5438\u30fb\u6574\u5f62\u5916\u79d1\u30fb\u5fc3\u81d3\u691c\u67fb\u306e\u5b9a\u671f\u30d5\u30a9\u30ed\u30fc\u3082\u91cd\u8981<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<p>\u3051\u3044\u308c\u3093\u306e\u6cbb\u7642\u3067\u306f\u3001\u30d0\u30eb\u30d7\u30ed\u9178\u3084\u30d3\u30ac\u30d0\u30c8\u30ea\u30f3\u306e\u4f7f\u7528\u306f\u907f\u3051\u308b\u3079\u304d\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u85ac\u5264\u306f\u3001\u75c7\u72b6\u3092\u60aa\u5316\u3055\u305b\u308b\u53ef\u80fd\u6027\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u305f\u3081\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u79c1\u304c\u3053\u308c\u307e\u3067\u8a3a\u7642\u3067\u898b\u3066\u304d\u305f\u7bc4\u56f2\u3067\u3082\u3001\u65e9\u671f\u304b\u3089\u30d9\u30f3\u30be\u30a8\u30fc\u30c8\u3068\u30c7\u30ad\u30b9\u30c8\u30ed\u30e1\u30c8\u30eb\u30d5\u30a1\u30f3\u306e\u7d44\u307f\u5408\u308f\u305b\u3067\u6cbb\u7642\u3092\u59cb\u3081\u305f\u3054\u5bb6\u65cf\u306f\u3001\u3051\u3044\u308c\u3093\u306e\u56de\u6570\u3084\u5f37\u3055\u3092\u7ba1\u7406\u3057\u3084\u3059\u304f\u306a\u3063\u305f\u3068\u611f\u3058\u308b\u30b1\u30fc\u30b9\u304c\u591a\u304f\u3042\u308a\u307e\u3057\u305f\u3002\u6cbb\u7642\u306e\u52b9\u679c\u3084\u526f\u4f5c\u7528\u306e\u51fa\u65b9\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308b\u305f\u3081\u3001\u5fc5\u305a\u62c5\u5f53\u533b\u3068\u76f8\u8ac7\u3057\u306a\u304c\u3089\u9032\u3081\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%BA%88%E5%BE%8C%E3%83%BC%E7%97%85%E5%9E%8B%E3%81%AB%E3%82%88%E3%82%8B%E8%A6%8B%E9%80%9A%E3%81%97%E3%81%AE%E9%81%95%E3%81%84\"><\/span>\u4e88\u5f8c\u30fc\u75c5\u578b\u306b\u3088\u308b\u898b\u901a\u3057\u306e\u9055\u3044<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u4e88\u5f8c\u306f\u75c5\u578b\u306b\u3088\u3063\u3066\u5927\u304d\u304f\u7570\u306a\u308a\u3001\u91cd\u75c7\u578b\u3067\u306f\u53b3\u3057\u3044\u7d4c\u904e\u3092\u305f\u3069\u308b\u3053\u3068\u304c\u591a\u3044\u4e00\u65b9\u3001\u4e00\u904e\u6027\u578b\u306f\u6bd4\u8f03\u7684\u826f\u597d\u3067\u3059\u3002<\/strong>\u6b21\u306e\u6307\u6a19\u304c\u3001\u7d4c\u904e\u3092\u4e88\u6e2c\u3059\u308b\u624b\u304c\u304b\u308a\u3068\u3057\u3066\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u91cd\u75c7\u578b(\u65b0\u751f\u5150\u578b):\u751f\u5f8c\u6570\u9031\u4ee5\u5185\u306b\u6b7b\u4ea1\u3059\u308b\u30b1\u30fc\u30b9\u304c\u591a\u304f\u3001\u751f\u5b58\u3057\u3066\u3082\u91cd\u5ea6\u306e\u767a\u9054\u9045\u6ede\u3084\u96e3\u6cbb\u6027\u3051\u3044\u308c\u3093\u304c\u6b8b\u308a\u307e\u3059<\/li>\n\n\n\n<li>\u8efd\u75c7\u578b(\u7de9\u5f90\u9032\u884c\u578b):\u767a\u9054\u306b\u3070\u3089\u3064\u304d\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u3042\u308b\u7a0b\u5ea6\u306e\u81ea\u7acb\u3084\u793e\u4f1a\u7684\u4ea4\u6d41\u304c\u53ef\u80fd\u306a\u3053\u3068\u3082\u3042\u308a\u307e\u3059<\/li>\n\n\n\n<li>\u4e00\u904e\u6027\u578b:\u6bd4\u8f03\u7684\u826f\u597d\u306a\u7d4c\u904e\u3092\u305f\u3069\u308a\u307e\u3059<\/li>\n<\/ul>\n\n\n\n<p>\u9ac4\u6db2\u30b0\u30ea\u30b7\u30f3\u304c230\u03bcmol\/L\u3092\u8d85\u3048\u308b\u5834\u5408\u3084\u3001\u9ac4\u6db2\/\u8840\u6f3f\u6bd4\u304c0.08\u3092\u8d85\u3048\u308b\u5834\u5408\u306f\u3001\u91cd\u75c7\u4f8b\u306e\u53ef\u80fd\u6027\u304c\u9ad8\u3044\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002MRI\u3067\u8133\u6881\u306e\u7570\u5e38\u3084\u8133\u840e\u7e2e\u304c\u307f\u3089\u308c\u308b\u5834\u5408\u3082\u3001\u91cd\u3044\u7d4c\u904e\u3092\u793a\u5506\u3059\u308b\u6240\u898b\u3067\u3059\u3002\u53cd\u5bfe\u306b\u821e\u8e0f\u904b\u52d5\u304c\u307f\u3089\u308c\u308b\u5834\u5408\u306f\u3001\u6bd4\u8f03\u7684\u8efd\u75c7\u306e\u5146\u5019\u3002<\/p>\n\n\n\n<p>\u8a3a\u65ad\u540d\u3060\u3051\u3067\u5c06\u6765\u306e\u3059\u3079\u3066\u304c\u6c7a\u307e\u308b\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u75c5\u578b\u3068\u691c\u67fb\u6240\u898b\u3092\u4e01\u5be7\u306b\u78ba\u8a8d\u3057\u306a\u304c\u3089\u3001\u4e3b\u6cbb\u533b\u3068\u3068\u3082\u306b\u9577\u671f\u7684\u306a\u898b\u901a\u3057\u3092\u7acb\u3066\u3066\u3044\u304f\u75c5\u6c17\u3060\u3068\u6349\u3048\u3066\u3044\u305f\u3060\u3051\u308c\u3070\u3068\u601d\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"text-align:center;margin:2em 0;\"><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/line-registration\/\" target=\"_blank\" rel=\"noopener\" style=\"display:inline-block;padding:0.8em 2em;background:#e8608a;color:#fff;border-radius:30px;text-decoration:none;font-weight:bold;\">\u598a\u5a20\u4e2d\u306e\u4e0d\u5b89\u3092LINE\u3067\u7121\u6599\u76f8\u8ac7\u3059\u308b<\/a><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%9B%B8%E8%AB%87%E3%81%A7%E3%81%8D%E3%82%8B%E7%AA%93%E5%8F%A3%E3%81%A8%E3%81%94%E5%AE%B6%E6%97%8F%E3%81%B8%E3%81%AE%E3%82%B5%E3%83%9D%E3%83%BC%E3%83%88\"><\/span>\u76f8\u8ac7\u3067\u304d\u308b\u7a93\u53e3\u3068\u3054\u5bb6\u65cf\u3078\u306e\u30b5\u30dd\u30fc\u30c8<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u30b0\u30ea\u30b7\u30f3\u8133\u75c7\u306e\u3088\u3046\u306a\u5e0c\u5c11\u306a\u4ee3\u8b1d\u75be\u60a3\u306f\u60c5\u5831\u304c\u5c11\u306a\u304f\u611f\u3058\u3089\u308c\u304c\u3061\u3067\u3059\u304c\u3001\u516c\u7684\u306a\u76f8\u8ac7\u7a93\u53e3\u3084\u5c02\u9580\u7684\u306a\u60c5\u5831\u6e90\u304c\u8907\u6570\u6574\u3063\u3066\u3044\u307e\u3059\u3002<\/strong>\u307e\u305a\u82f1\u8a9e\u570f\u306e\u4ee3\u8868\u7684\u306a\u60c5\u5831\u6e90\u3068\u3057\u3066\u306f\u3001\u7c73\u56fd\u56fd\u7acb\u533b\u5b66\u56f3\u66f8\u9928\u304c\u904b\u55b6\u3059\u308b<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1357\/\" target=\"_blank\" rel=\"noopener\">GeneReviews\u306e\u975e\u30b1\u30c8\u30f3\u6027\u9ad8\u30b0\u30ea\u30b7\u30f3\u8840\u75c7\u306e\u89e3\u8aac<\/a>\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u75be\u60a3\u306e\u5168\u4f53\u50cf\u3092\u5e73\u6613\u306b\u307e\u3068\u3081\u305f\u60c5\u5831\u3068\u3057\u3066\u306f\u3001\u7c73\u56fd\u56fd\u7acb\u885b\u751f\u7814\u7a76\u6240\u304c\u904b\u55b6\u3059\u308b<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/7219\/glycine-encephalopathy\" target=\"_blank\" rel=\"noopener\">GARD(\u5e0c\u5c11\u75be\u60a3\u60c5\u5831\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9)\u306e\u30b0\u30ea\u30b7\u30f3\u8133\u75c7\u306e\u30da\u30fc\u30b8<\/a>\u3084\u3001\u533b\u7642\u8005\u5411\u3051\u306b\u307e\u3068\u3081\u3089\u308c\u305f<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK556140\/\" target=\"_blank\" rel=\"noopener\">StatPearls\u306e\u89e3\u8aac<\/a>\u3082\u53c2\u8003\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u65e5\u672c\u56fd\u5185\u3067\u306f\u3001\u65b0\u751f\u5150\u30de\u30b9\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u306e\u5bfe\u8c61\u75be\u60a3\u3092\u542b\u3080\u4ee3\u8b1d\u75be\u60a3\u5168\u822c\u306b\u3064\u3044\u3066\u3001\u65e5\u672c\u5148\u5929\u4ee3\u8b1d\u7570\u5e38\u5b66\u4f1a\u304c<a href=\"https:\/\/jsimd.net\/pdf\/guideline\/MS\/18_ms2025.pdf\" target=\"_blank\" rel=\"noopener\">\u8a3a\u7642\u30ac\u30a4\u30c9\u30e9\u30a4\u30f3<\/a>\u3092\u516c\u958b\u3057\u3066\u3044\u307e\u3059\u3002\u6b21\u306e\u598a\u5a20\u3092\u8003\u3048\u308b\u969b\u306f\u3001\u4e21\u89aa\u304c\u4fdd\u56e0\u8005\u304b\u3069\u3046\u304b\u3092\u78ba\u8a8d\u3059\u308b\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u304c\u5f79\u7acb\u3061\u307e\u3059\u3002\u540c\u3058\u7acb\u5834\u306e\u3054\u5bb6\u65cf\u3068\u3064\u306a\u304c\u308b\u60a3\u8005\u4f1a\u3084\u3001\u5730\u57df\u306e\u4fdd\u5065\u30bb\u30f3\u30bf\u30fc\u3082\u8eab\u8fd1\u306a\u76f8\u8ac7\u5148\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3072\u3068\u308a\u3067\u62b1\u3048\u8fbc\u307e\u305a\u3001\u533b\u7642\u30fb\u5236\u5ea6\u30fb\u4ef2\u9593\u3068\u3044\u3046\u4e09\u3064\u306e\u652f\u3048\u3092\u7d44\u307f\u5408\u308f\u305b\u3066\u983c\u3063\u3066\u304f\u3060\u3055\u3044\u3002\u598a\u5a20\u521d\u671f\u304b\u3089\u306e\u691c\u67fb\u306b\u3064\u3044\u3066\u3055\u3089\u306b\u8a73\u3057\u304f\u77e5\u308a\u305f\u3044\u65b9\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-detectable-conditions\/\">NIPT\u3067\u898b\u3064\u304b\u308b\u53ef\u80fd\u6027\u306e\u3042\u308b\u969c\u5bb3\u3068\u306f<\/a>\u306e\u8a18\u4e8b\u3082\u3042\u308f\u305b\u3066\u3054\u78ba\u8a8d\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/mcadd-medium-chain-acyl-coa-dehydrogenase-deficiency\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u4e2d\u9396\u30a2\u30b7\u30ebCoA\u30c7\u30d2\u30c9\u30ed\u30b2\u30ca\u30fc\u30bc\u6b20\u640d\u75c7\u3010ACADM\u3011 <\/div>\n          <div class=\"blog-card-excerpt\">\u4e3b\u306b\u4e73\u5e7c\u5150\u671f\u306b\u767a\u75c7\u3059\u308b\u4e2d\u9396\u30a2\u30b7\u30ebCoA\u30c7\u30d2\u30c9\u30ed\u30b2\u30ca\u30fc\u30bc\u6b20\u640d\u75c7\uff08MCADD\uff09\u306b\u3064\u3044\u3066\u3001\u75c7\u72b6\u30fb\u539f\u56e0\u30fb\u6cbb\u7642\u6cd5\u306a\u3069\u3092\u3084\u3055\u3057\u304f\u89e3\u8aac\uff5c\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n    <a href=\"\/nipt\/homocystinuria-cbs-deficiency-overview\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u30b7\u30b9\u30bf\u30c1\u30aa\u30cb\u30f3\u03b2-\u30b7\u30f3\u30bf\u30fc\u30bc\u6b20\u640d\u306b\u3088\u308b\u30db\u30e2\u30b7\u30b9\u30c1\u30f3\u5c3f\u75c7\u3010CBS\u3011 <\/div>\n          <div class=\"blog-card-excerpt\">\u30db\u30e2\u30b7\u30b9\u30c1\u30f3\u5c3f\u75c7\uff08CBS\u6b20\u640d\u75c7\uff09\u306f\u3001\u30db\u30e2\u30b7\u30b9\u30c6\u30a4\u30f3\u304c\u4f53\u306b\u305f\u307e\u308b\u3053\u3068\u3067\u76ee\u3084\u9aa8\u3001\u8840\u7ba1\u306a\u3069\u306b\u5f71\u97ff\u3059\u308b\u5148\u5929\u6027\u4ee3\u8b1d\u7570\u5e38\u75c7\u3067\u3059\u3002\u3084\u3055\u3057\u304f\u89e3\u8aac\uff5c\u30d2\u30ed\u30af\u30ea\u30cb...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%82%88%E3%81%8F%E3%81%82%E3%82%8B%E8%B3%AA%E5%95%8F\"><\/span>\u3088\u304f\u3042\u308b\u8cea\u554f<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_AMT%E5%9E%8B%E3%82%B0%E3%83%AA%E3%82%B7%E3%83%B3%E8%84%B3%E7%97%87%E3%81%A8GLDC%E5%9E%8B%E3%81%AF%E3%80%81%E3%81%A9%E3%81%A1%E3%82%89%E3%81%8C%E5%A4%9A%E3%81%84%E3%81%AE%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\"><\/span><strong>Q. AMT\u578b\u30b0\u30ea\u30b7\u30f3\u8133\u75c7\u3068GLDC\u578b\u306f\u3001\u3069\u3061\u3089\u304c\u591a\u3044\u306e\u3067\u3059\u304b\u3002<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>GLDC\u578b\u304c\u3082\u3063\u3068\u3082\u591a\u304f\u3001\u5168\u4f53\u306e\u7d0475\u301c80%\u3092\u5360\u3081\u307e\u3059\u3002AMT\u578b\u306f\u3053\u308c\u306b\u6b21\u3050\u7d0420%\u3067\u3059\u3002\u4e21\u8005\u306f\u539f\u56e0\u907a\u4f1d\u5b50\u304c\u7570\u306a\u308a\u307e\u3059\u304c\u3001\u75c7\u72b6\u306f\u91cd\u306a\u308b\u90e8\u5206\u304c\u591a\u304f\u3001\u907a\u4f1d\u5b50\u691c\u67fb\u3067\u898b\u5206\u3051\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_AMT%E5%9E%8B%E3%81%AFNIPT%E6%96%B0%E5%9E%8B%E5%87%BA%E7%94%9F%E5%89%8D%E8%A8%BA%E6%96%AD%E3%81%A7%E3%82%8F%E3%81%8B%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span><strong>Q. AMT\u578b\u306fNIPT(\u65b0\u578b\u51fa\u751f\u524d\u8a3a\u65ad)\u3067\u308f\u304b\u308a\u307e\u3059\u304b\u3002<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6a19\u6e96\u7684\u306aNIPT\u306f\u67d3\u8272\u4f53\u306e\u6570\u7684\u7570\u5e38\u3092\u8abf\u3079\u308b\u691c\u67fb\u3067\u3042\u308a\u3001AMT\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3092\u76f4\u63a5\u8abf\u3079\u308b\u4ed5\u7d44\u307f\u306b\u306f\u306a\u3063\u3066\u3044\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<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_%E5%87%BA%E7%94%9F%E5%BE%8C%E3%81%AE%E6%96%B0%E7%94%9F%E5%85%90%E3%83%9E%E3%82%B9%E3%82%B9%E3%82%AF%E3%83%AA%E3%83%BC%E3%83%8B%E3%83%B3%E3%82%B0%E3%81%A7%E8%A6%8B%E3%81%A4%E3%81%8B%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span>Q. \u51fa\u751f\u5f8c\u306e\u65b0\u751f\u5150\u30de\u30b9\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3067\u898b\u3064\u304b\u308a\u307e\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u65e5\u672c\u306e\u30bf\u30f3\u30c7\u30e0\u30de\u30b9\u6cd5\u306b\u3088\u308b\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u306e\u5bfe\u8c61\u75be\u60a3\u306b\u306f\u542b\u307e\u308c\u3066\u3044\u307e\u305b\u3093\u3002\u8a3a\u65ad\u306f\u3001\u751f\u5f8c\u306e\u3051\u3044\u308c\u3093\u306a\u3069\u75c7\u72b6\u3078\u306e\u6c17\u3065\u304d\u3092\u304d\u3063\u304b\u3051\u306b\u3001\u8840\u6db2\u30fb\u8133\u810a\u9ac4\u6db2\u30fb\u907a\u4f1d\u5b50\u691c\u67fb\u3092\u7d44\u307f\u5408\u308f\u305b\u3066\u9032\u3081\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_%E9%A1%95%E6%80%A7%E9%81%BA%E4%BC%9D%E3%81%A8%E6%BD%9C%E6%80%A7%E9%81%BA%E4%BC%9D%E3%81%AE%E9%81%95%E3%81%84%E3%81%AF%E4%BD%95%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\"><\/span><strong>Q. \u9855\u6027\u907a\u4f1d\u3068\u6f5c\u6027\u907a\u4f1d\u306e\u9055\u3044\u306f\u4f55\u3067\u3059\u304b\u3002<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6f5c\u6027\u907a\u4f1d\u306e\u75c5\u6c17\u306f\u3001\u4e21\u89aa\u305d\u308c\u305e\u308c\u304b\u3089\u5909\u7570\u306e\u3042\u308b\u907a\u4f1d\u5b50\u30921\u3064\u305a\u3064\u53d7\u3051\u7d99\u3044\u3060\u5834\u5408\u306b\u306e\u307f\u767a\u75c7\u3057\u307e\u3059\u3002\u7247\u65b9\u3060\u3051\u53d7\u3051\u7d99\u3044\u3060\u4eba(\u4fdd\u56e0\u8005)\u306f\u901a\u5e38\u7121\u75c7\u72b6\u3067\u3059\u3002AMT\u578b\u30b0\u30ea\u30b7\u30f3\u8133\u75c7\u306f\u3053\u306e\u6f5c\u6027\u907a\u4f1d\u306e\u5f62\u5f0f\u3092\u3068\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_%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><strong>Q. \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<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u4e21\u89aa\u304c\u3068\u3082\u306b\u4fdd\u56e0\u8005\u306e\u5834\u5408\u3001\u6b21\u306e\u304a\u5b50\u3055\u3093\u304c\u767a\u75c7\u3059\u308b\u78ba\u7387\u306f25%\u3067\u3059\u3002\u6b63\u78ba\u306a\u518d\u767a\u30ea\u30b9\u30af\u3084\u691c\u67fb\u306e\u9078\u629e\u80a2\u306b\u3064\u3044\u3066\u306f\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u62c5\u5f53\u533b\u306b\u76f8\u8ac7\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_%E6%B2%BB%E7%99%82%E3%81%AB%E3%82%88%E3%81%A3%E3%81%A6%E7%97%87%E7%8A%B6%E3%81%AF%E6%94%B9%E5%96%84%E3%81%97%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span><strong>Q. \u6cbb\u7642\u306b\u3088\u3063\u3066\u75c7\u72b6\u306f\u6539\u5584\u3057\u307e\u3059\u304b\u3002<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u307e\u3060\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u30d9\u30f3\u30be\u30a8\u30fc\u30c8\u30ca\u30c8\u30ea\u30a6\u30e0\u306b\u3088\u308b\u30b0\u30ea\u30b7\u30f3\u6392\u51fa\u7642\u6cd5\u3084\u3001\u30c7\u30ad\u30b9\u30c8\u30ed\u30e1\u30c8\u30eb\u30d5\u30a1\u30f3\u306b\u3088\u308b\u3051\u3044\u308c\u3093\u306e\u7ba1\u7406\u3067\u3001\u75c7\u72b6\u306e\u7de9\u548c\u304c\u671f\u5f85\u3067\u304d\u307e\u3059\u3002\u52b9\u679c\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308b\u305f\u3081\u3001\u62c5\u5f53\u533b\u3068\u76f8\u8ac7\u3057\u306a\u304c\u3089\u9032\u3081\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_%E4%B8%80%E9%81%8E%E6%80%A7%E5%9E%8B%E3%81%A8%E8%A8%BA%E6%96%AD%E3%81%95%E3%82%8C%E3%81%9F%E3%82%89%E3%80%81%E3%82%82%E3%81%86%E5%BF%83%E9%85%8D%E3%81%AF%E3%81%84%E3%82%8A%E3%81%BE%E3%81%9B%E3%82%93%E3%81%8B%E3%80%82\"><\/span>Q. \u4e00\u904e\u6027\u578b\u3068\u8a3a\u65ad\u3055\u308c\u305f\u3089\u3001\u3082\u3046\u5fc3\u914d\u306f\u3044\u308a\u307e\u305b\u3093\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u4e00\u904e\u6027\u578b\u306f\u6bd4\u8f03\u7684\u826f\u597d\u306a\u7d4c\u904e\u3092\u305f\u3069\u308b\u3053\u3068\u304c\u591a\u3044\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u7d4c\u904e\u89b3\u5bdf\u306f\u5fc5\u8981\u3067\u3059\u3002\u8a3a\u65ad\u76f4\u5f8c\u306f\u91cd\u75c7\u578b\u3068\u306e\u533a\u5225\u304c\u3064\u304d\u306b\u304f\u3044\u3053\u3068\u3082\u3042\u308b\u305f\u3081\u3001\u5c02\u9580\u533b\u306b\u3088\u308b\u7d99\u7d9a\u7684\u306a\u30d5\u30a9\u30ed\u30fc\u3092\u53d7\u3051\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<p class=\"has-text-align-center\"><sup><sup>\u30b0\u30ea\u30b7\u30f3\u8133\u75c7, \u975e\u30b1\u30c8\u30f3\u6027\u9ad8\u30b0\u30ea\u30b7\u30f3\u8840\u75c7, NKH, AMT\u907a\u4f1d\u5b50, GLDC, GCSH, DLD, T\u30bf\u30f3\u30d1\u30af\u8cea, \u30b0\u30ea\u30b7\u30f3\u958b\u88c2\u7cfb, \u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d, NMDA\u53d7\u5bb9\u4f53, \u3051\u3044\u308c\u3093, \u65b0\u751f\u5150\u3066\u3093\u304b\u3093, \u30c7\u30ad\u30b9\u30c8\u30ed\u30e1\u30c8\u30eb\u30d5\u30a1\u30f3, \u30d9\u30f3\u30be\u30a8\u30fc\u30c8\u30ca\u30c8\u30ea\u30a6\u30e0, CSF\u30b0\u30ea\u30b7\u30f3, MRI, \u767a\u9054\u9045\u5ef6, \u907a\u4f1d\u5b50\u8a3a\u65ad, NIPT\u5bfe\u8c61\u5916<\/sup><\/sup><\/p>\n\n\n\n<div style=\"border:1px solid #f0d0dc;border-radius:12px;padding:1.2em 1.4em;margin:2.5rem 0 1rem;background:#fffafc;\">\n<p style=\"margin:0 0 0.4em;font-weight:bold;\">\u8457\u8005\u30fb\u76e3\u4fee<\/p>\n<p style=\"margin:0;\">\u5ca1 \u535a\u53f2(\u304a\u304b \u3072\u308d\u3057)\/\u533b\u7642\u6cd5\u4eba\u793e\u56e3\u798f\u7f8e\u4f1a \u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u7d71\u62ec\u9662\u9577\u30fbLabo Director(\u30e9\u30dc\u30c7\u30a3\u30ec\u30af\u30bf\u30fc)\u3002\u6176\u61c9\u7fa9\u587e\u5927\u5b66\u533b\u5b66\u90e8\u5352\u696d\u5f8c\u3001\u65e5\u672c\u3068\u7c73\u56fd\u306e\u533b\u5e2b\u56fd\u5bb6\u8a66\u9a13\u306b\u5408\u683c\u3057\u3001\u81e8\u5e8a\u7814\u4fee\u5f8c2\u5e74\u3067\u533b\u5b66\u535a\u58eb\u3092\u53d6\u5f97\u3002\u65e5\u672c\u306b\u7d0420\u4eba\u3057\u304b\u3044\u306a\u3044\u30e9\u30dc\u30c7\u30a3\u30ec\u30af\u30bf\u30fc\u8cc7\u683c\u3092\u4fdd\u6709\u3002YouTube\u300c\u3072\u308d\u3057\u5148\u751f\u306e\u6b63\u3057\u3044\u30a8\u30d3\u30c7\u30f3\u30b9\u598a\u5a20ch\u300d\u306a\u3069\u3067\u3001\u30a8\u30d3\u30c7\u30f3\u30b9\u306b\u3082\u3068\u3065\u304f\u598a\u5a20\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u30fb\u5c0f\u5150\u4ee3\u8b1d\u75be\u60a3\u306e\u60c5\u5831\u3092\u767a\u4fe1\u3057\u3066\u3044\u307e\u3059\u3002\u672c\u8a18\u4e8b\u306f\u533b\u7642\u5e83\u544a\u30ac\u30a4\u30c9\u30e9\u30a4\u30f3\u306b\u914d\u616e\u3057\u3001\u516c\u7684\u6a5f\u95a2\u30fb\u5b66\u4f1a\u30fb\u5b66\u8853\u8ad6\u6587\u306e\u60c5\u5831\u3092\u53c2\u7167\u3057\u3066\u4f5c\u6210\u3057\u3066\u3044\u307e\u3059\u3002\u8a18\u8f09\u306e\u6570\u5024\u306f\u5831\u544a\u4f8b\u306b\u57fa\u3065\u304f\u3082\u306e\u3067\u3042\u308a\u3001\u75c7\u4f8b\u6570\u304c\u9650\u3089\u308c\u308b\u305f\u3081\u4eca\u5f8c\u306e\u77e5\u898b\u306b\u3088\u308a\u5909\u308f\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002\u8a3a\u65ad\u30fb\u6cbb\u7642\u306e\u6700\u7d42\u5224\u65ad\u306f\u62c5\u5f53\u533b\u306b\u3054\u76f8\u8ac7\u304f\u3060\u3055\u3044\u3002<\/p>\n<\/div>\n\n\n\n<p class=\"has-text-align-center\" style=\"font-size:0.85em;color:#777;\">\u53c2\u8003\u60c5\u5831:<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1357\/\" target=\"_blank\" rel=\"noopener\">Nonketotic Hyperglycinemia\uff5cGeneReviews(\u7c73\u56fd\u56fd\u7acb\u533b\u5b66\u56f3\u66f8\u9928)<\/a> \/ <a href=\"https:\/\/medlineplus.gov\/genetics\/gene\/amt\/\" target=\"_blank\" rel=\"noopener\">AMT gene\uff5cMedlinePlus Genetics<\/a> \/ <a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/7219\/glycine-encephalopathy\" target=\"_blank\" rel=\"noopener\">Glycine encephalopathy\uff5cGARD<\/a> \/ <a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK556140\/\" target=\"_blank\" rel=\"noopener\">Nonketotic Hyperglycinemia\uff5cStatPearls<\/a> \/ <a href=\"https:\/\/jsimd.net\/pdf\/guideline\/MS\/18_ms2025.pdf\" target=\"_blank\" rel=\"noopener\">\u65b0\u751f\u5150\u30de\u30b9\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u5bfe\u8c61\u75be\u60a3\u7b49\u8a3a\u7642\u30ac\u30a4\u30c9\u30e9\u30a4\u30f3\uff5c\u65e5\u672c\u5148\u5929\u4ee3\u8b1d\u7570\u5e38\u5b66\u4f1a<\/a><\/p>\n\n\n\n<script type=\"application\/ld+json\">\n{\n  \"@context\": \"https:\/\/schema.org\",\n  \"@graph\": [\n    {\n      \"@type\": \"WebPage\",\n      \"@id\": \"https:\/\/www.hiro-clinic.or.jp\/nipt\/glycine-encephalopathy-amt-overview\/\",\n      \"url\": \"https:\/\/www.hiro-clinic.or.jp\/nipt\/glycine-encephalopathy-amt-overview\/\",\n      \"name\": \"\u975e\u30b1\u30c8\u30f3\u6027\u9ad8\u30b0\u30ea\u30b7\u30f3\u8840\u75c7(\u30b0\u30ea\u30b7\u30f3\u8133\u75c7)AMT\u95a2\u9023\u578b\u3068\u306f\uff5c\u539f\u56e0\u30fb\u75c7\u72b6\u30fbGLDC\u578b\u3068\u306e\u9055\u3044\u3092\u89e3\u8aac\",\n      \"inLanguage\": \"ja\",\n      \"datePublished\": \"2025-06-13\",\n      \"dateModified\": \"2026-07-29\",\n      \"description\": 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