{"id":101282,"date":"2025-06-13T13:18:38","date_gmt":"2025-06-13T04:18:38","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=101282"},"modified":"2026-07-17T06:32:43","modified_gmt":"2026-07-16T21:32:43","slug":"metachromatic-leukodystrophy-arsa-overview","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/metachromatic-leukodystrophy-arsa-overview\/","title":{"rendered":"\u30e1\u30bf\u30af\u30ed\u30de\u30c1\u30c3\u30af\u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\uff08\u30a2\u30ea\u30eb\u30b9\u30eb\u30d5\u30a1\u30bf\u30fc\u30bcA\u6b20\u640d\u75c7\uff09\u3010ARSA\u3011"},"content":{"rendered":"\n<div style=\"height:20px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<div style=\"border: 4px solid #e9e4f5; background-color: #fcfbff; border-radius: 12px; padding: 1.5rem; margin: 1.5rem 0 2.5rem; font-family: 'Helvetica Neue', sans-serif; line-height: 1.6; box-shadow: 0 2px 8px rgba(0, 0, 0, 0.03);\">\n  <div 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/metachromatic-leukodystrophy-arsa-overview\/#%E9%85%B5%E7%B4%A0%E6%B4%BB%E6%80%A7%E6%B8%AC%E5%AE%9A\" >\u9175\u7d20\u6d3b\u6027\u6e2c\u5b9a<\/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\/metachromatic-leukodystrophy-arsa-overview\/#%E9%81%BA%E4%BC%9D%E5%AD%90%E6%A4%9C%E6%9F%BB\" >\u907a\u4f1d\u5b50\u691c\u67fb<\/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\/metachromatic-leukodystrophy-arsa-overview\/#%E5%B0%BF%E6%A4%9C%E6%9F%BB%E3%83%BB%E8%84%B3MRI%E3%83%BB%E7%A5%9E%E7%B5%8C%E4%BC%9D%E5%B0%8E%E6%A4%9C%E6%9F%BB\" >\u5c3f\u691c\u67fb\u30fb\u8133MRI\u30fb\u795e\u7d4c\u4f1d\u5c0e\u691c\u67fb<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/metachromatic-leukodystrophy-arsa-overview\/#%E6%B2%BB%E7%99%82%E6%B3%95%E3%81%A8%E7%AE%A1%E7%90%86_Treatment_Management\" >\u6cbb\u7642\u6cd5\u3068\u7ba1\u7406 | Treatment &amp; Management<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-18\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/metachromatic-leukodystrophy-arsa-overview\/#1_%E7%96%BE%E6%82%A3%E4%BF%AE%E9%A3%BE%E6%B2%BB%E7%99%82\" >1. \u75be\u60a3\u4fee\u98fe\u6cbb\u7642<\/a><ul class='ez-toc-list-level-4' ><li class='ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-19\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/metachromatic-leukodystrophy-arsa-overview\/#%E2%96%A0_%E9%81%BA%E4%BC%9D%E5%AD%90%E6%B2%BB%E7%99%82%EF%BC%9AAtidarsagene_autotemcel%EF%BC%88Libmeldy%EF%BC%89\" >\u25a0 \u907a\u4f1d\u5b50\u6cbb\u7642\uff1aAtidarsagene autotemcel\uff08Libmeldy\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-20\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/metachromatic-leukodystrophy-arsa-overview\/#%E2%96%A0_%E5%90%8C%E7%A8%AE%E9%80%A0%E8%A1%80%E5%B9%B9%E7%B4%B0%E8%83%9E%E7%A7%BB%E6%A4%8D%EF%BC%88HSCT%EF%BC%89\" >\u25a0 \u540c\u7a2e\u9020\u8840\u5e79\u7d30\u80de\u79fb\u690d\uff08HSCT\uff09<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-21\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/metachromatic-leukodystrophy-arsa-overview\/#2_%E6%94%AF%E6%8F%B4%E7%9A%84%E3%82%B1%E3%82%A2%EF%BC%88%E5%AF%BE%E7%97%87%E7%99%82%E6%B3%95%EF%BC%89\" >2. \u652f\u63f4\u7684\u30b1\u30a2\uff08\u5bfe\u75c7\u7642\u6cd5\uff09<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-22\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/metachromatic-leukodystrophy-arsa-overview\/#%E4%BA%88%E5%BE%8C_Prognosis\" >\u4e88\u5f8c | Prognosis<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-23\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/metachromatic-leukodystrophy-arsa-overview\/#%E6%8C%87%E5%AE%9A%E9%9B%A3%E7%97%85%E3%83%BB%E5%B0%8F%E5%85%90%E6%85%A2%E6%80%A7%E7%89%B9%E5%AE%9A%E7%96%BE%E7%97%85%E3%81%A8%E3%81%97%E3%81%A6%E3%81%AE%E5%8C%BB%E7%99%82%E8%B2%BB%E5%8A%A9%E6%88%90\" >\u6307\u5b9a\u96e3\u75c5\u30fb\u5c0f\u5150\u6162\u6027\u7279\u5b9a\u75be\u75c5\u3068\u3057\u3066\u306e\u533b\u7642\u8cbb\u52a9\u6210<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-24\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/metachromatic-leukodystrophy-arsa-overview\/#%E3%82%88%E3%81%8F%E3%81%82%E3%82%8B%E8%B3%AA%E5%95%8F%EF%BC%88FAQ%EF%BC%89\" >\u3088\u304f\u3042\u308b\u8cea\u554f\uff08FAQ\uff09<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-25\" 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/metachromatic-leukodystrophy-arsa-overview\/#%E4%B8%A1%E8%A6%AA%E3%81%8C%E3%81%A8%E3%82%82%E3%81%AB%E4%BF%9D%E5%9B%A0%E8%80%85%E3%81%AE%E5%A0%B4%E5%90%88%E3%80%81%E6%AC%A1%E3%81%AE%E5%AD%90%E3%82%82%E7%99%BA%E7%97%87%E3%81%97%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\" >\u4e21\u89aa\u304c\u3068\u3082\u306b\u4fdd\u56e0\u8005\u306e\u5834\u5408\u3001\u6b21\u306e\u5b50\u3082\u767a\u75c7\u3057\u307e\u3059\u304b\uff1f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-27\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/metachromatic-leukodystrophy-arsa-overview\/#%E5%A6%8A%E5%A8%A0%E4%B8%AD%E3%82%84NIPT%E3%81%A7%E8%A6%8B%E3%81%A4%E3%81%91%E3%82%8B%E3%81%93%E3%81%A8%E3%81%AF%E3%81%A7%E3%81%8D%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\" >\u598a\u5a20\u4e2d\u3084NIPT\u3067\u898b\u3064\u3051\u308b\u3053\u3068\u306f\u3067\u304d\u307e\u3059\u304b\uff1f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-28\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/metachromatic-leukodystrophy-arsa-overview\/#%E9%85%B5%E7%B4%A0%E6%B4%BB%E6%80%A7%E3%81%8C%E4%BD%8E%E3%81%84%E3%81%A8%E8%A8%80%E3%82%8F%E3%82%8C%E3%81%BE%E3%81%97%E3%81%9F%E3%81%8C%E3%80%81%E5%BF%85%E3%81%9A%E7%99%BA%E7%97%87%E3%81%97%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\" >\u9175\u7d20\u6d3b\u6027\u304c\u4f4e\u3044\u3068\u8a00\u308f\u308c\u307e\u3057\u305f\u304c\u3001\u5fc5\u305a\u767a\u75c7\u3057\u307e\u3059\u304b\uff1f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-29\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/metachromatic-leukodystrophy-arsa-overview\/#%E6%B2%BB%E7%99%82%E6%B3%95%E3%81%AF%E3%81%82%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\" >\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u3059\u304b\uff1f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-30\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/metachromatic-leukodystrophy-arsa-overview\/#%E5%8C%BB%E7%99%82%E8%B2%BB%E3%81%AE%E5%8A%A9%E6%88%90%E3%81%AF%E3%81%82%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\" >\u533b\u7642\u8cbb\u306e\u52a9\u6210\u306f\u3042\u308a\u307e\u3059\u304b\uff1f<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-31\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/metachromatic-leukodystrophy-arsa-overview\/#%E9%96%A2%E9%80%A3%E3%81%99%E3%82%8B%E5%8D%98%E4%B8%80%E9%81%BA%E4%BC%9D%E5%AD%90%E7%96%BE%E6%82%A3%E3%83%BBNIPT%E3%81%AE%E5%9F%BA%E7%A4%8E%E7%9F%A5%E8%AD%98\" >\u95a2\u9023\u3059\u308b\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u30fbNIPT\u306e\u57fa\u790e\u77e5\u8b58<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-32\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/metachromatic-leukodystrophy-arsa-overview\/#%E5%BC%95%E7%94%A8%E6%96%87%E7%8C%AE%EF%BD%9CReferences\" >\u5f15\u7528\u6587\u732e\uff5cReferences<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-33\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/metachromatic-leukodystrophy-arsa-overview\/#%E3%82%AD%E3%83%BC%E3%83%AF%E3%83%BC%E3%83%89%EF%BD%9CKeywords\" >\u30ad\u30fc\u30ef\u30fc\u30c9\uff5cKeywords<\/a><\/li><\/ul><\/nav><\/div>\n<h2 style=\"margin-top: 0; margin-bottom: 0.75rem; font-size: 1.25rem; color: #7e6cae; text-align: left; border: none; border-bottom: none; padding-bottom: 0; display: block;\"><span class=\"ez-toc-section\" id=\"%E3%82%84%E3%81%95%E3%81%97%E3%81%84%E3%81%BE%E3%81%A8%E3%82%81\"><\/span>\u3084\u3055\u3057\u3044\u307e\u3068\u3081<span class=\"ez-toc-section-end\"><\/span><\/h2>\n  <p style=\"margin: 0 0 0.8rem; font-size: 1rem; color: #444;\"><strong>\u7570\u67d3\u6027\u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\uff08\u30e1\u30bf\u30af\u30ed\u30de\u30c1\u30c3\u30af\u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\uff0fMLD\uff09\u306f\u3001ARSA\u907a\u4f1d\u5b50\u306e\u7570\u5e38\u3067\u30b9\u30eb\u30d5\u30a1\u30c1\u30c9\u3068\u3044\u3046\u8102\u8cea\u304c\u5206\u89e3\u3067\u304d\u305a\u3001\u8133\u3084\u795e\u7d4c\u306e\u767d\u8cea\u304c\u58ca\u308c\u3066\u3044\u304f\u9032\u884c\u6027\u306e\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002<\/strong>\u4e21\u89aa\u304b\u30891\u3064\u305a\u3064\u5909\u7570\u907a\u4f1d\u5b50\u3092\u53d7\u3051\u7d99\u3044\u3060\u3068\u304d\u306b\u767a\u75c7\u3059\u308b\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u3067\u3001\u767a\u75c7\u6642\u671f\u306b\u3088\u3063\u3066\u4e73\u5150\u578b\u30fb\u82e5\u5e74\u578b\u30fb\u6210\u4eba\u578b\u306b\u5206\u304b\u308c\u307e\u3059\u3002<\/p>\n  <p style=\"margin: 0 0 0.8rem; font-size: 1rem; color: #444;\">\u3053\u306e\u8a18\u4e8b\u3067\u308f\u304b\u308b\u3053\u3068<\/p>\n  <ul style=\"margin:0;padding-left:1.2rem;color:#444;\">\n    <li>ARSA\u907a\u4f1d\u5b50\u306e\u7570\u5e38\u304c\u306a\u305c\u75c7\u72b6\u3092\u8d77\u3053\u3059\u306e\u304b\u3001\u539f\u56e0\u306e\u4ed5\u7d44\u307f<\/li>\n    <li>\u4e73\u5150\u578b\u30fb\u82e5\u5e74\u578b\u30fb\u6210\u4eba\u578b\u305d\u308c\u305e\u308c\u306e\u75c7\u72b6\u3068\u7d4c\u904e\u306e\u9055\u3044<\/li>\n    <li>\u9175\u7d20\u6d3b\u6027\u6e2c\u5b9a\u30fb\u907a\u4f1d\u5b50\u691c\u67fb\u306a\u3069\u8a3a\u65ad\u306e\u9032\u3081\u65b9<\/li>\n    <li>\u907a\u4f1d\u5b50\u6cbb\u7642\uff08Libmeldy\uff09\u3084\u9020\u8840\u5e79\u7d30\u80de\u79fb\u690d\u306a\u3069\u306e\u6cbb\u7642\u306e\u9078\u629e\u80a2<\/li>\n    <li>\u6307\u5b9a\u96e3\u75c5\u30fb\u5c0f\u5150\u6162\u6027\u7279\u5b9a\u75be\u75c5\u3068\u3057\u3066\u306e\u533b\u7642\u8cbb\u52a9\u6210\u3068NIPT\u3068\u306e\u95a2\u4fc2<\/li>\n  <\/ul>\n  <p style=\"margin: 0.8rem 0 0; font-size: 1rem; color: #444;\">\u304a\u5b50\u3055\u3093\u306e\u767a\u9054\u306b\u6c17\u304c\u304b\u308a\u306a\u69d8\u5b50\u304c\u3042\u308b\u65b9\u3001\u8a3a\u65ad\u3092\u53d7\u3051\u3066\u60c5\u5831\u3092\u63a2\u3057\u3066\u3044\u308b\u3054\u5bb6\u65cf\u3001\u533b\u7642\u30fb\u798f\u7949\u306b\u95a2\u308f\u308b\u65b9\u306e\u300c\u6700\u521d\u306e\u4e00\u6b69\u300d\u3068\u3057\u3066\u3001\u516c\u7684\u6a5f\u95a2\u306e\u60c5\u5831\u3092\u3082\u3068\u306b\u3067\u304d\u308b\u3060\u3051\u3084\u3055\u3057\u304f\u6574\u7406\u3057\u307e\u3057\u305f\u3002<\/p>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%95%B0%E6%9F%93%E6%80%A7%E7%99%BD%E8%B3%AA%E3%82%B8%E3%82%B9%E3%83%88%E3%83%AD%E3%83%95%E3%82%A3%E3%83%BC%EF%BC%88%E3%83%A1%E3%82%BF%E3%82%AF%E3%83%AD%E3%83%9E%E3%83%81%E3%83%83%E3%82%AF%E7%99%BD%E8%B3%AA%E3%82%B8%E3%82%B9%E3%83%88%E3%83%AD%E3%83%95%E3%82%A3%E3%83%BC%EF%BC%89%E3%81%A8%E3%81%AF_Disorder_Overview\"><\/span>\u7570\u67d3\u6027\u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\uff08\u30e1\u30bf\u30af\u30ed\u30de\u30c1\u30c3\u30af\u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\uff09\u3068\u306f | Disorder &amp; Overview<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u7570\u67d3\u6027\u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u306f\u3001ARSA\u9175\u7d20\u306e\u6b20\u640d\u306b\u3088\u3063\u3066\u30b9\u30eb\u30d5\u30a1\u30c1\u30c9\u304c\u795e\u7d4c\u306b\u84c4\u7a4d\u3057\u3001\u8133\u30fb\u672b\u68a2\u795e\u7d4c\u306e\u767d\u8cea\u304c\u7834\u58ca\u3055\u308c\u3066\u3044\u304f\u9032\u884c\u6027\u306e\u795e\u7d4c\u75be\u60a3\u3067\u3059\u3002<\/strong>\u56fd\u5185\u3067\u306f\u300c\u7570\u67d3\u6027\u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u300d\u3001\u56fd\u969b\u7684\u306b\u306f\u82f1\u8a9e\u8868\u8a18\u304b\u3089\u300c\u30e1\u30bf\u30af\u30ed\u30de\u30c1\u30c3\u30af\u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u300d\u300cMLD\uff08Metachromatic Leukodystrophy\uff09\u300d\u3068\u3082\u547c\u3070\u308c\u3001\u3044\u305a\u308c\u3082\u540c\u3058\u75be\u60a3\u3092\u6307\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4ed6\u306b\u7528\u3044\u3089\u308c\u308b\u540d\u79f0\u306f\u4ee5\u4e0b\u306e\u3068\u304a\u308a\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u30a2\u30ea\u30eb\u30b9\u30eb\u30d5\u30a1\u30bf\u30fc\u30bcA\u6b20\u640d\u75c7\uff08Arylsulfatase A Deficiency\uff09<\/li>\n\n\n\n<li>\u9045\u767a\u578b\u30fb\u4e73\u5150\u578b\u30fb\u82e5\u5e74\u578b\u30fb\u6210\u4eba\u578bMLD<\/li>\n\n\n\n<li>\u507d\u30a2\u30ea\u30eb\u30b9\u30eb\u30d5\u30a1\u30bf\u30fc\u30bcA\u6b20\u640d\u75c7\uff08Pseudodeficiency\u3001\u5f8c\u8ff0\u306e\u3068\u304a\u308aMLD\u3068\u306f\u533a\u5225\u3055\u308c\u307e\u3059\uff09<\/li>\n<\/ul>\n\n\n\n<p>\u75c5\u6c17\u306f\u767a\u75c7\u5e74\u9f62\u306b\u3088\u3063\u3066\u3001\u5927\u304d\u304f3\u3064\u306e\u578b\u306b\u5206\u985e\u3055\u308c\u307e\u3059\u3002\u30ab\u30ae\u3068\u306a\u308b\u306e\u306f\u3001\u578b\u306b\u3088\u3063\u3066\u6700\u521d\u306b\u6c17\u3065\u304b\u308c\u308b\u75c7\u72b6\u3084\u9032\u884c\u306e\u901f\u3055\u304c\u5927\u304d\u304f\u7570\u306a\u308b\u70b9\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u4e73\u5150\u578b\uff08Late-infantile MLD\uff09\uff1a\u751f\u5f8c6\u304b\u6708\u301c2\u6b73\u534a\u306b\u767a\u75c7\u3002\u6700\u3082\u983b\u5ea6\u304c\u9ad8\u304f\u3001\u6025\u901f\u306b\u9032\u884c\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u82e5\u5e74\u578b\uff08Juvenile MLD\uff09\uff1a2\u6b73\u534a\u301c16\u6b73\u306b\u767a\u75c7\u3002\u75c7\u72b6\u306e\u51fa\u65b9\u3084\u9032\u884c\u901f\u5ea6\u306b\u5e45\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6210\u4eba\u578b\uff08Adult MLD\uff09\uff1a16\u6b73\u4ee5\u964d\u306b\u767a\u75c7\u3002\u9032\u884c\u306f\u7de9\u3084\u304b\u3067\u3059\u304c\u3001\u7cbe\u795e\u7684\u306a\u75c7\u72b6\u304c\u76ee\u7acb\u3064\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n    <a href=\"\/nipt\/roberts-syndrome-esco2-overview\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u30ed\u30d0\u30fc\u30c4\u75c7\u5019\u7fa4\uff08ESCO2\u95a2\u9023\u30b3\u30d2\u30fc\u30b7\u30ce\u30d1\u30c1\u30fc\uff09\u3010ESCO2\u3011 <\/div>\n          <div class=\"blog-card-excerpt\">\u624b\u8db3\u306e\u77ed\u7e2e\u3084\u6210\u9577\u306e\u9045\u308c\u3092\u7279\u5fb4\u3068\u3059\u308b\u30ed\u30d0\u30fc\u30c4\u75c7\u5019\u7fa4\u3002\u539f\u56e0\u3068\u306a\u308bESCO2\u907a\u4f1d\u5b50\u3084\u8a3a\u65ad\u30fb\u6cbb\u7642\u306e\u30dd\u30a4\u30f3\u30c8\u3092\u3084\u3055\u3057\u304f\u89e3\u8aac\u3057\u307e\u3059\u3002\uff5c\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%8E%9F%E5%9B%A0%E3%81%A8ARSA%E9%81%BA%E4%BC%9D%E5%AD%90_Etiology_Implicated_Genomic_Region\"><\/span>\u539f\u56e0\u3068ARSA\u907a\u4f1d\u5b50 | Etiology &amp; Implicated Genomic Region<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u7570\u67d3\u6027\u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u306f\u300122\u756a\u67d3\u8272\u4f53\u306b\u3042\u308bARSA\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u3001\u795e\u7d4c\u306e\u30df\u30a8\u30ea\u30f3\uff08myelin\uff0f\u795e\u7d4c\u3092\u4fdd\u8b77\u3059\u308b\u819c\uff09\u3092\u5206\u89e3\u3059\u308b\u9175\u7d20\u304c\u50cd\u304b\u306a\u304f\u306a\u308b\u3053\u3068\u3067\u8d77\u3053\u308a\u307e\u3059\u3002<\/strong>\u4e21\u89aa\u306e\u3069\u3061\u3089\u304b\u4e00\u65b9\u3060\u3051\u304c\u5909\u7570\u3092\u6301\u3064\u300c\u4fdd\u56e0\u8005\u300d\u306e\u6bb5\u968e\u3067\u306f\u75c7\u72b6\u306f\u51fa\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p class=\"has-text-align-center\"><strong>ARSA<\/strong><\/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\/ARSA-hgtIdeo_genome_25a309_b9c6d0-1024x25.png\" alt=\"ARSA\" class=\"wp-image-101285\"\/><\/figure><\/div>\n\n\n<p>ARSA\u907a\u4f1d\u5b50\uff08Arylsulfatase A\uff0f\u30a2\u30ea\u30eb\u30b9\u30eb\u30d5\u30a1\u30bf\u30fc\u30bcA\uff09\u306f\u300122\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\uff0822q13.33\uff09\u306b\u5b58\u5728\u3057\u3001\u300c\u30e9\u30a4\u30bd\u30be\u30fc\u30e0\uff08lysosome\uff0f\u7d30\u80de\u5185\u306e\u4e0d\u8981\u7269\u3092\u5206\u89e3\u3059\u308b\u5c0f\u5668\u5b98\uff09\u300d\u3067\u50cd\u304f\u9175\u7d20\u3001\u30a2\u30ea\u30eb\u30b9\u30eb\u30d5\u30a1\u30bf\u30fc\u30bcA\u306e\u751f\u6210\u306b\u95a2\u4e0e\u3057\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u9175\u7d20\u306f\u3001\u795e\u7d4c\u306e\u4fdd\u8b77\u819c\u3067\u3042\u308b\u30df\u30a8\u30ea\u30f3\u306b\u591a\u304f\u542b\u307e\u308c\u308b\u300c\u30b9\u30eb\u30d5\u30a1\u30c1\u30c9\uff08sulfatide\uff09\u300d\u3068\u3044\u3046\u8102\u8cea\u3092\u5206\u89e3\u3059\u308b\u91cd\u8981\u306a\u5f79\u5272\u3092\u62c5\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>ARSA\u907a\u4f1d\u5b50\u306b\u75c5\u7684\u306a\u5909\u7570\u304c2\u3064\uff08\u4e21\u89aa\u304b\u30891\u3064\u305a\u3064\uff09\u305d\u308d\u3046\u3068\u3001\u9175\u7d20\u306e\u6d3b\u6027\u304c\u6975\u7aef\u306b\u4f4e\u4e0b\u3057\u3001\u30b9\u30eb\u30d5\u30a1\u30c1\u30c9\u304c\u84c4\u7a4d\u3057\u307e\u3059\u3002\u305d\u306e\u7d50\u679c\u3001\u795e\u7d4c\u304c\u969c\u5bb3\u3092\u53d7\u3051\u3001\u7570\u67d3\u6027\u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u304c\u767a\u75c7\u3057\u307e\u3059\u3002\u3053\u306e\u300c\u4e21\u89aa\u304b\u30891\u3064\u305a\u3064\u300d\u3068\u3044\u3046\u53d7\u3051\u7d99\u304e\u65b9\u306f<strong>\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d<\/strong>\u3068\u547c\u3070\u308c\u308b\u5f62\u5f0f\u3067\u3001\u4e21\u89aa\u304c\u3068\u3082\u306b\u4fdd\u56e0\u8005\u306e\u5834\u5408\u3001\u6b21\u306e\u598a\u5a20\u3067\u304a\u5b50\u3055\u3093\u304c\u767a\u75c7\u3059\u308b\u78ba\u7387\u306f\u7406\u8ad6\u4e0a25%\u3067\u3059\u3002\u907a\u4f1d\u306e\u4ed5\u7d44\u307f\u81ea\u4f53\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autosomal-recessive-genetics-support\/\">\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u3068\u306f\u4f55\u304b\uff1f<\/a>\u3067\u56f3\u89e3\u3057\u3066\u3044\u307e\u3059\u306e\u3067\u3001\u3042\u308f\u305b\u3066\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u7a00\u306bPSAP\u907a\u4f1d\u5b50\uff08\u30d7\u30ed\u30b5\u30dd\u30b7\u30f3\uff09\u306e\u5909\u7570\u306b\u3088\u308a\u3001\u300c\u30b5\u30dd\u30b7\u30f3B\uff08saposin B\uff09\u300d\u3068\u3044\u3046ARSA\u9175\u7d20\u306e\u88dc\u52a9\u56e0\u5b50\u304c\u6a5f\u80fd\u3057\u306a\u304f\u306a\u308b\u3053\u3068\u3067\u767a\u75c7\u3059\u308b\u30b1\u30fc\u30b9\u3082\u3042\u308a\u307e\u3059\u3002\u4ee5\u4e0b\u306f\u4ee3\u8868\u7684\u306aARSA\u5909\u7570\u306e\u4f8b\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>c.465+1G&gt;A\uff1a\u9175\u7d20\u6d3b\u6027\u304c\u5b8c\u5168\u306b\u5931\u308f\u308c\u308b\u300c0\u578b\u30a2\u30ec\u30eb\u300d\u3067\u3001\u4e73\u5150\u578b\u306b\u3088\u304f\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>c.1283C&gt;T\uff08p.Pro428Leu\uff09\uff1a\u6210\u4eba\u578b\u3068\u306e\u95a2\u9023\u304c\u793a\u5506\u3055\u308c\u3066\u3044\u308b\u30df\u30b9\u30bb\u30f3\u30b9\u5909\u7570\u3002<\/li>\n\n\n\n<li>c.542T&gt;G\uff08p.Ile181Ser\uff09\uff1a\u4e00\u90e8\u306e\u9175\u7d20\u6d3b\u6027\u304c\u6b8b\u308b\u5909\u7570\u3067\u3001\u9032\u884c\u304c\u7de9\u3084\u304b\u306a\u75c7\u4f8b\u306b\u95a2\u9023\u3059\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%81%BDARSA%E6%AC%A0%E6%90%8D%E7%97%87%EF%BC%88Pseudodeficiency%EF%BC%89%E3%81%A8%E3%81%AE%E9%81%95%E3%81%84\"><\/span>\u507dARSA\u6b20\u640d\u75c7\uff08Pseudodeficiency\uff09\u3068\u306e\u9055\u3044<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u9175\u7d20\u306e\u6570\u5024\u3060\u3051\u3067\u5224\u65ad\u3059\u308b\u3068\u6df7\u4e71\u3057\u3084\u3059\u3044\u306e\u304c\u3001\u3053\u306e\u507dARSA\u6b20\u640d\u75c7\u3067\u3059\u3002\u4e00\u90e8\u306e\u4eba\u306fARSA\u6d3b\u6027\u304c\u901a\u5e38\u3088\u308a\u4f4e\u3044\u3082\u306e\u306e\u3001\u307e\u3063\u305f\u304f\u767a\u75c7\u3057\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u3088\u304f\u898b\u3089\u308c\u308b\u507d\u6b20\u640d\u30a2\u30ec\u30eb\uff1ap.Asn352Ser\uff08c.1055A&gt;G\uff09\u3001c.96A&gt;G<\/li>\n\n\n\n<li>\u4e16\u754c\u4e2d\u306730\u301c35%\u306e\u4eba\u304c\u3053\u308c\u3089\u306e\u30a2\u30ec\u30eb\u3092\u4fdd\u6709\u3057\u3066\u3044\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u3053\u306e\u305f\u3081\u3001\u9175\u7d20\u6d3b\u6027\u691c\u67fb\u3060\u3051\u3067\u306f\u78ba\u5b9a\u8a3a\u65ad\u306f\u3067\u304d\u305a\u3001\u907a\u4f1d\u5b50\u691c\u67fb\u3068\u306e\u4f75\u7528\u304c\u5fc5\u9808\u3067\u3059\u3002\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u73fe\u5834\u3067\u306f\u3001\u300c\u9175\u7d20\u306e\u6570\u5024\u304c\u4f4e\u3044\u3068\u8a00\u308f\u308c\u305f\u304c\u767a\u75c7\u3059\u308b\u306e\u304b\u300d\u3068\u3044\u3046\u3054\u76f8\u8ac7\u3092\u5b9f\u969b\u306b\u3088\u304f\u3044\u305f\u3060\u304d\u307e\u3059\u3002\u6570\u5024\u3060\u3051\u3067\u4e00\u559c\u4e00\u6182\u305b\u305a\u3001\u907a\u4f1d\u5b50\u691c\u67fb\u307e\u3067\u542b\u3081\u3066\u78ba\u8a8d\u3059\u308b\u3053\u3068\u304c\u6b20\u304b\u305b\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%96%AB%E5%AD%A6%EF%BC%88%E7%99%BA%E7%97%87%E9%A0%BB%E5%BA%A6%EF%BC%89_Epidemiology\"><\/span>\u75ab\u5b66\uff08\u767a\u75c7\u983b\u5ea6\uff09 | Epidemiology<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u7570\u67d3\u6027\u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u306f\u3001\u4e16\u754c\u5168\u4f53\u3067\u304a\u3088\u305d1\uff0f40,000\u301c1\uff0f160,000\u51fa\u751f\u3068\u3055\u308c\u308b\u975e\u5e38\u306b\u307e\u308c\u306a\u75be\u60a3\u3067\u3059\u3002<\/strong>\u5730\u57df\u3084\u6c11\u65cf\u96c6\u56e3\u306b\u3088\u3063\u3066\u983b\u5ea6\u304c\u5927\u304d\u304f\u7570\u306a\u308b\u70b9\u3082\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u4e16\u754c\u5168\u4f53\uff1a1\uff0f40,000\u301c1\uff0f160,000\u51fa\u751f<\/li>\n\n\n\n<li>\u30dd\u30eb\u30c8\u30ac\u30eb\uff1a1.85\uff0f100,000\uff08\u4e73\u5150\u578b\uff1a1.12\u3001\u82e5\u5e74\u578b\uff1a0.29\u3001\u6210\u4eba\u578b\uff1a0.45\uff09<\/li>\n\n\n\n<li>\u30b9\u30a6\u30a7\u30fc\u30c7\u30f3\uff1a1.73\uff0f100,000<\/li>\n\n\n\n<li>\u65e5\u672c\uff1a0.16\uff0f100,000\uff08\u5831\u544a\u4e0d\u8db3\u306e\u53ef\u80fd\u6027\u3042\u308a\uff09<\/li>\n<\/ul>\n\n\n\n<p>\u307e\u305f\u3001\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u6c11\u65cf\u96c6\u56e3\u3067\u306f\u6709\u75c5\u7387\u304c\u7279\u306b\u9ad8\u304f\u306a\u3063\u3066\u3044\u307e\u3059\u3002\u30ca\u30d0\u30db\uff08\u7c73\u56fd\uff09\u3068\u30a2\u30e9\u30b9\u30ab\u30fb\u30e6\u30d4\u30c3\u30af\u306f\u3044\u305a\u308c\u30821\uff0f2,500\u3001\u30a4\u30b9\u30e9\u30a8\u30eb\u30fb\u30a2\u30e9\u30d6\u4eba\u306f1\uff0f8,000\u3067\u3059\u3002\u7a00\u5c11\u75be\u60a3\u3067\u3042\u308b\u3053\u3068\u306b\u5909\u308f\u308a\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u96c6\u56e3\u306b\u3088\u3063\u3066\u6ce8\u610f\u3059\u3079\u304d\u983b\u5ea6\u306f\u7570\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u65e5\u672c\u3067\u306f\u3001\u5927\u4eba\u306f\u6307\u5b9a\u96e3\u75c519\u300c\u30e9\u30a4\u30bd\u30be\u30fc\u30e0\u75c5\u300d\u3001\u5b50\u3069\u3082\u306f\u5c0f\u5150\u6162\u6027\u7279\u5b9a\u75be\u75c5\uff08\u544a\u793a\u756a\u53f7112\uff09\u3068\u3057\u3066\u3001\u305d\u308c\u305e\u308c\u533b\u7642\u8cbb\u52a9\u6210\u5236\u5ea6\u306e\u5bfe\u8c61\u306b\u6307\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u8a73\u3057\u3044\u8a8d\u5b9a\u57fa\u6e96\u3084\u52a9\u6210\u306e\u4ed5\u7d44\u307f\u306f\u3001<a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4061\" target=\"_blank\" rel=\"noopener\">\u96e3\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc\u300c\u30e9\u30a4\u30bd\u30be\u30fc\u30e0\u75c5\uff08\u6307\u5b9a\u96e3\u75c519\uff09\u300d<\/a>\u3068<a href=\"https:\/\/www.shouman.jp\/disease\/details\/08_06_088\/\" target=\"_blank\" rel=\"noopener\">\u5c0f\u5150\u6162\u6027\u7279\u5b9a\u75be\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc\u300c\u7570\u67d3\u6027\u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u300d<\/a>\u3067\u78ba\u8a8d\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/atp6v1b1-related-rta-hearing-loss\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">ATP6V1B1\u95a2\u9023 \u9060\u4f4d\u578b\u814e\u6027\u5c3f\u7d30\u7ba1\u6027\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u3068\u611f\u97f3\u6027\u96e3\u8074 <\/div>\n          <div class=\"blog-card-excerpt\">ATP6V1B1\u907a\u4f1d\u5b50\u306e\u7570\u5e38\u306b\u3088\u3063\u3066\u8d77\u3053\u308b\u3001\u814e\u6027\u5c3f\u7d30\u7ba1\u6027\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u3068\u611f\u97f3\u6027\u96e3\u8074\u306b\u3064\u3044\u3066\u89e3\u8aac\u3002\u75c7\u72b6\u3084\u8a3a\u65ad\u3001\u6cbb\u7642\u6cd5\u3092\u3084\u3055\u3057\u304f\u7d39\u4ecb\u3057\u307e\u3059\uff5c\u30d2\u30ed\u30af...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%97%87%E7%8A%B6_Symptoms\"><\/span>\u75c7\u72b6 | Symptoms<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u75c7\u72b6\u306f\u767a\u75c7\u5e74\u9f62\u306b\u3088\u3063\u3066\u73fe\u308c\u65b9\u304c\u7570\u306a\u308a\u307e\u3059\u304c\u3001\u3044\u305a\u308c\u3082\u904b\u52d5\u6a5f\u80fd\u30fb\u8a8d\u77e5\u6a5f\u80fd\u304c\u9032\u884c\u6027\u306b\u4f4e\u4e0b\u3057\u3066\u3044\u304f\u70b9\u306f\u5171\u901a\u3057\u3066\u3044\u307e\u3059\u3002<\/strong>\u307e\u305a\u306f\u578b\u3092\u554f\u308f\u305a\u898b\u3089\u308c\u308b\u4ee3\u8868\u7684\u306a\u75c7\u72b6\u304b\u3089\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%B8%BB%E3%81%AA%E5%85%B1%E9%80%9A%E7%97%87%E7%8A%B6\"><\/span>\u4e3b\u306a\u5171\u901a\u75c7\u72b6<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u6b69\u884c\u56f0\u96e3\u3001\u3064\u307e\u305a\u304d\u3084\u3059\u3055\u3001\u7b4b\u529b\u4f4e\u4e0b<\/li>\n\n\n\n<li>\u8a00\u8449\u3092\u5fd8\u308c\u308b\u3001\u8a71\u305b\u306a\u304f\u306a\u308b<\/li>\n\n\n\n<li>\u8996\u899a\u30fb\u8074\u899a\u969c\u5bb3\uff08\u8996\u529b\u4f4e\u4e0b\u3001\u96e3\u8074\u3001\u5931\u660e\uff09<\/li>\n\n\n\n<li>\u611f\u899a\u920d\u9ebb\u3001\u672b\u68a2\u795e\u7d4c\u969c\u5bb3<\/li>\n\n\n\n<li>\u767a\u4f5c\uff08\u3066\u3093\u304b\u3093\uff09<\/li>\n\n\n\n<li>\u98f2\u307f\u8fbc\u307f\u306b\u304f\u3055\u3001\u8aa4\u56a5\u3001\u8aa4\u56a5\u6027\u80ba\u708e<\/li>\n\n\n\n<li>\u6392\u6cc4\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u306e\u55aa\u5931\uff08\u5931\u7981\uff09<\/li>\n\n\n\n<li>\u7121\u53cd\u5fdc\u3001\u660f\u8ff7\u72b6\u614b<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%82%B5%E3%83%96%E3%82%BF%E3%82%A4%E3%83%97%E3%81%94%E3%81%A8%E3%81%AE%E7%89%B9%E5%BE%B4\"><\/span>\u30b5\u30d6\u30bf\u30a4\u30d7\u3054\u3068\u306e\u7279\u5fb4<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u540c\u3058\u75c5\u6c17\u3067\u3082\u3001\u767a\u75c7\u6642\u671f\u306b\u3088\u3063\u3066\u6700\u521d\u306e\u6c17\u3065\u304d\u65b9\u306f\u307e\u3063\u305f\u304f\u7570\u306a\u308a\u307e\u3059\u3002\u307e\u305a\u5168\u4f53\u50cf\u3092\u8868\u3067\u62bc\u3055\u3048\u305f\u3046\u3048\u3067\u3001\u578b\u3054\u3068\u306e\u76ee\u5b89\u3092\u898b\u3066\u3044\u304d\u307e\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<figure class=\"wp-block-table\"><table><thead><tr><th>\u578b<\/th><th>\u767a\u75c7\u6642\u671f<\/th><th>\u6700\u521d\u306b\u6c17\u3065\u304b\u308c\u3084\u3059\u3044\u69d8\u5b50<\/th><th>\u9032\u884c\u306e\u901f\u3055<\/th><\/tr><\/thead><tbody>\n<tr><td>\u4e73\u5150\u578b<\/td><td>\u751f\u5f8c6\u304b\u6708\u301c2.5\u6b73<\/td><td>\u6b69\u3051\u3066\u3044\u305f\u5b50\u304c\u6b69\u3051\u306a\u304f\u306a\u308b\u3001\u8a71\u3055\u306a\u304f\u306a\u308b<\/td><td>\u901f\u3044\uff08\u767a\u75c7\u304b\u30895\u301c6\u5e74\u3067\u306e\u6b7b\u4ea1\u304c\u591a\u3044\uff09<\/td><\/tr>\n<tr><td>\u82e5\u5e74\u578b<\/td><td>2.5\u6b73\u301c16\u6b73<\/td><td>\u6210\u7e3e\u4f4e\u4e0b\u3001\u96c6\u4e2d\u529b\u4f4e\u4e0b\u3001\u884c\u52d5\u306e\u4e0d\u5b89\u5b9a\u3055<\/td><td>\u500b\u4eba\u5dee\u304c\u5927\u304d\u3044<\/td><\/tr>\n<tr><td>\u6210\u4eba\u578b<\/td><td>16\u6b73\u4ee5\u964d<\/td><td>\u3046\u3064\u75c5\u30fb\u5e7b\u899a\u30fb\u8a18\u61b6\u969c\u5bb3\u306a\u3069\u306e\u7cbe\u795e\u75c7\u72b6<\/td><td>\u7de9\u3084\u304b\uff08\u6570\u5341\u5e74\u5358\u4f4d\uff09<\/td><\/tr>\n<\/tbody><\/table><figcaption>\u7570\u67d3\u6027\u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u306e\u75c5\u578b\u5225\u306e\u76ee\u5b89\uff08GeneReviews\u7b49\u306e\u6587\u732e\u306b\u57fa\u3065\u304f\u4e00\u822c\u7684\u306a\u50be\u5411\u3002\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059\uff09<\/figcaption><\/figure>\n\n\n\n<p>\u8868\u304b\u3089\u3082\u308f\u304b\u308b\u3068\u304a\u308a\u3001\u767a\u75c7\u304c\u65e9\u3044\u307b\u3069\u9032\u884c\u3082\u901f\u3044\u50be\u5411\u306b\u3042\u308a\u307e\u3059\u3002\u3053\u3053\u304b\u3089\u306f\u3001\u578b\u3054\u3068\u306e\u5177\u4f53\u7684\u306a\u7d4c\u904e\u3092\u8a73\u3057\u304f\u898b\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%B9%B3%E5%85%90%E5%9E%8B%EF%BC%88Late-infantile_MLD%EF%BC%89\"><\/span>\u4e73\u5150\u578b\uff08Late-infantile MLD\uff09<span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>\u6700\u3082\u983b\u5ea6\u304c\u9ad8\u304f\u3001\u9032\u884c\u3082\u901f\u3044\u578b\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u767a\u75c7\uff1a\u751f\u5f8c6\u304b\u6708\u301c2.5\u6b73<\/li>\n\n\n\n<li>\u6700\u521d\u306f\u6b63\u5e38\u306a\u767a\u9054 \u2192 \u6025\u901f\u306a\u9000\u884c<\/li>\n\n\n\n<li>\u6b69\u3051\u3066\u3044\u305f\u5b50\u304c\u6b69\u3051\u306a\u304f\u306a\u308b\u3001\u8a71\u3055\u306a\u304f\u306a\u308b<\/li>\n\n\n\n<li>\u7b4b\u7dca\u5f35\u306e\u5909\u5316\uff08\u4f4e\u4e0b\u304b\u3089\u786c\u76f4\u3078\uff09\u3001\u3051\u3044\u308c\u3093\u3001\u8aa4\u56a5<\/li>\n\n\n\n<li>\u767a\u75c7\u304b\u30895\u301c6\u5e74\u3067\u306e\u6b7b\u4ea1\u304c\u591a\u3044\u3068\u3055\u308c\u3066\u3044\u307e\u3059<\/li>\n<\/ul>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%8B%A5%E5%B9%B4%E5%9E%8B%EF%BC%88Juvenile_MLD%EF%BC%89\"><\/span>\u82e5\u5e74\u578b\uff08Juvenile MLD\uff09<span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>\u5b66\u6821\u751f\u6d3b\u306e\u4e2d\u3067\u6c17\u3065\u304b\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u578b\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u767a\u75c7\uff1a2.5\u6b73\u301c16\u6b73<\/li>\n\n\n\n<li>\u521d\u671f\u306b\u306f\u300c\u5b66\u6821\u3067\u306e\u6210\u7e3e\u4f4e\u4e0b\u300d\u300c\u96c6\u4e2d\u529b\u306e\u4f4e\u4e0b\u300d\u300c\u4e0d\u5b89\u5b9a\u306a\u884c\u52d5\u300d\u306a\u3069\u304c\u898b\u3089\u308c\u308b<\/li>\n\n\n\n<li>\u305d\u306e\u5f8c\u3001\u6b69\u884c\u969c\u5bb3\u3001\u767a\u4f5c\u3001\u8a8d\u77e5\u6a5f\u80fd\u306e\u9000\u884c\u3078\u9032\u884c<\/li>\n\n\n\n<li>\u500b\u4eba\u5dee\u304c\u5927\u304d\u3044\u3082\u306e\u306e\u3001\u591a\u304f\u306f20\u6b73\u524d\u5f8c\u307e\u3067\u306b\u6df1\u523b\u306a\u969c\u5bb3\u306b\u81f3\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059<\/li>\n<\/ul>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%88%90%E4%BA%BA%E5%9E%8B%EF%BC%88Adult_MLD%EF%BC%89\"><\/span>\u6210\u4eba\u578b\uff08Adult MLD\uff09<span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>\u7cbe\u795e\u75c7\u72b6\u304b\u3089\u59cb\u307e\u308b\u305f\u3081\u3001\u4ed6\u306e\u75c5\u6c17\u3068\u9593\u9055\u308f\u308c\u3084\u3059\u3044\u578b\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u767a\u75c7\uff1a16\u6b73\u4ee5\u964d<\/li>\n\n\n\n<li>\u6700\u521d\u306b\u7cbe\u795e\u75c7\u72b6\uff08\u3046\u3064\u75c5\u3001\u5e7b\u899a\u3001\u8a18\u61b6\u969c\u5bb3\u306a\u3069\uff09\u304b\u3089\u59cb\u307e\u308b\u3053\u3068\u304c\u591a\u3044<\/li>\n\n\n\n<li>\u6570\u5341\u5e74\u306b\u308f\u305f\u308b\u7de9\u3084\u304b\u306a\u9032\u884c<\/li>\n\n\n\n<li>\u6700\u7d42\u7684\u306b\u306f\u6b69\u884c\u969c\u5bb3\u3001\u5931\u8a9e\u3001\u8a8d\u77e5\u75c7\u72b6\u304c\u91cd\u5ea6\u306b\u9032\u884c\u3057\u307e\u3059<\/li>\n<\/ul>\n\n\n\n<div class=\"cta-box\" style=\"text-align:center;margin:2em 0;padding:1.2em;background:#fff5f7;border-radius:12px;\">\n<p style=\"font-weight:bold;margin-bottom:0.8em;\">\u25bc \u598a\u5a20\u30fb\u51fa\u751f\u524d\u306e\u691c\u67fb\u306b\u3064\u3044\u3066\u76f8\u8ac7\u3057\u305f\u3044\u65b9\u3078<\/p>\n<p style=\"margin:0.4em 0;\"><a href=\"https:\/\/mypage-nipt-reservation.hiro-clinic.or.jp\/registration\" target=\"_blank\" rel=\"noopener\" style=\"display:inline-block;padding:0.7em 1.6em;background:#e8608a;color:#fff;border-radius:30px;text-decoration:none;font-weight:bold;\">NIPT\u306e\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/a><\/p>\n<p style=\"margin:0.4em 0;\"><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/line-registration\/\" target=\"_blank\" rel=\"noopener\" style=\"display:inline-block;padding:0.7em 1.6em;background:#06c755;color:#fff;border-radius:30px;text-decoration:none;font-weight:bold;\">LINE\u3067\u7121\u6599\u76f8\u8ac7\u3059\u308b<\/a><\/p>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"NIPT%E3%81%A7%E3%82%8F%E3%81%8B%E3%82%8B%E3%81%AE%E3%81%8B%EF%BC%9F%E5%8D%98%E4%B8%80%E9%81%BA%E4%BC%9D%E5%AD%90%E7%96%BE%E6%82%A3%E6%A4%9C%E6%9F%BB%E3%81%A8%E3%81%97%E3%81%A6%E3%81%AE%E4%BD%8D%E7%BD%AE%E3%81%A5%E3%81%91\"><\/span>NIPT\u3067\u308f\u304b\u308b\u306e\u304b\uff1f\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u691c\u67fb\u3068\u3057\u3066\u306e\u4f4d\u7f6e\u3065\u3051<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u7570\u67d3\u6027\u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u306f\u3001\u57fa\u672c\u7684\u306aNIPT\uff08\u30c8\u30ea\u30bd\u30df\u30fc\u7b49\u306e\u67d3\u8272\u4f53\u6570\u306e\u691c\u67fb\uff09\u306e\u5bfe\u8c61\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u3092\u542b\u3080\u62e1\u5f35\u30d1\u30cd\u30eb\u691c\u67fb\u306e\u5bfe\u8c61\u306b\u542b\u307e\u308c\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/strong>\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3068\u78ba\u5b9a\u8a3a\u65ad\u306e\u9055\u3044\u3092\u7406\u89e3\u3057\u3066\u304a\u304f\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30afNIPT\u3067\u306f\u3001\u57fa\u672c\u7684\u306a\u67d3\u8272\u4f53\u75be\u60a3\u306b\u52a0\u3048\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u30fb\u91cd\u8907\u3001\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3200\u7a2e\u4ee5\u4e0a\u3001\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0231\u9805\u76ee\u307e\u3067\u3092\u691c\u67fb\u9805\u76ee\u3068\u3057\u3066\u6271\u3063\u3066\u304a\u308a\u3001ARSA\u907a\u4f1d\u5b50\u3092\u542b\u3080\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u306e\u4fdd\u56e0\u8005\u30ea\u30b9\u30af\u3092\u598a\u5a20\u4e2d\u306b\u628a\u63e1\u3067\u304d\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002\u305f\u3060\u3057\u3001NIPT\u306f\u3042\u304f\u307e\u3067<strong>\u975e\u78ba\u5b9a\u7684\u306a\u691c\u67fb<\/strong>\u3067\u3042\u308a\u3001\u967d\u6027\u3068\u306a\u3063\u305f\u5834\u5408\u306e\u78ba\u5b9a\u8a3a\u65ad\u306b\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\u3084\u3001\u51fa\u751f\u5f8c\u306e\u9175\u7d20\u6d3b\u6027\u6e2c\u5b9a\u30fb\u907a\u4f1d\u5b50\u691c\u67fb\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u73fe\u5834\u3067\u306f\u3001\u300c\u805e\u3044\u305f\u3053\u3068\u306e\u306a\u3044\u75c5\u540d\u306e\u691c\u67fb\u7d50\u679c\u3092\u3069\u3046\u53d7\u3051\u6b62\u3081\u308c\u3070\u3088\u3044\u304b\u5206\u304b\u3089\u306a\u3044\u300d\u3068\u3044\u3046\u3054\u76f8\u8ac7\u3092\u5b9f\u969b\u306b\u6570\u591a\u304f\u3044\u305f\u3060\u304d\u307e\u3059\u3002\u805e\u304d\u6163\u308c\u306a\u3044\u75be\u60a3\u540d\u304c\u7d50\u679c\u306b\u51fa\u305f\u3068\u304d\u307b\u3069\u3001\u81ea\u5df1\u5224\u65ad\u3067\u4e0d\u5b89\u3092\u81a8\u3089\u307e\u305b\u308b\u306e\u3067\u306f\u306a\u304f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/obgyn\/\">\u7523\u5a66\u4eba\u79d1<\/a>\u5c02\u9580\u533b\u30fb\u5c0f\u5150\u79d1\u5c02\u9580\u533b\u30fb\u81e8\u5e8a\u907a\u4f1d\u5c02\u9580\u533b\u306b\u3088\u308b\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u3001\u78ba\u7387\u306e\u610f\u5473\u3068\u6b21\u306b\u53d6\u308b\u3079\u304d\u691c\u67fb\u3092\u6b63\u78ba\u306b\u78ba\u8a8d\u3057\u3066\u304f\u3060\u3055\u3044\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u5168\u4f53\u306e\u7a2e\u985e\u3084\u9078\u3073\u65b9\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/types-of-prenatal-diagnosis-and-how-to-choose-for-pregnant-women\/\">\u51fa\u751f\u524d\u8a3a\u65ad\u306e\u7a2e\u985e\u306e\u9055\u3044\u3068\u306f\uff1fNIPT\u3084\u7f8a\u6c34\u691c\u67fb\u306a\u3069\u9078\u3073\u65b9\u3092\u89e3\u8aac<\/a>\u3067\u6574\u7406\u3057\u3066\u3044\u307e\u3059\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_Testing_Diagnosis\"><\/span>\u691c\u67fb\u30fb\u8a3a\u65ad | Testing &amp; Diagnosis<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u78ba\u5b9a\u8a3a\u65ad\u306b\u306f\u3001\u9175\u7d20\u6d3b\u6027\u6e2c\u5b9a\u3068\u907a\u4f1d\u5b50\u691c\u67fb\u3092\u7d44\u307f\u5408\u308f\u305b\u3066\u884c\u3046\u306e\u304c\u57fa\u672c\u3067\u3059\u3002<\/strong>\u5358\u72ec\u306e\u691c\u67fb\u3060\u3051\u3067\u306f\u3001\u524d\u8ff0\u306e\u507d\u6b20\u640d\u30a2\u30ec\u30eb\u3068\u533a\u5225\u304c\u3064\u304b\u306a\u3044\u3053\u3068\u304c\u3042\u308b\u305f\u3081\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%85%B5%E7%B4%A0%E6%B4%BB%E6%80%A7%E6%B8%AC%E5%AE%9A\"><\/span>\u9175\u7d20\u6d3b\u6027\u6e2c\u5b9a<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u767d\u8840\u7403\u3084\u76ae\u819a\u7dda\u7dad\u82bd\u7d30\u80de\u306b\u304a\u3051\u308bARSA\u6d3b\u6027\u304c10\uff05\u672a\u6e80\u306e\u5834\u5408\u3001\u5f37\u3044\u7591\u3044\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%BA%E4%BC%9D%E5%AD%90%E6%A4%9C%E6%9F%BB\"><\/span>\u907a\u4f1d\u5b50\u691c\u67fb<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>ARSA\u907a\u4f1d\u5b50\u306e\u75c5\u7684\u5909\u7570\u306e\u540c\u5b9a\u304c\u78ba\u5b9a\u8a3a\u65ad\u306e\u9375\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u507d\u6b20\u640d\u30a2\u30ec\u30eb\u3068\u306e\u9451\u5225\u304c\u4e0d\u53ef\u6b20\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%B0%BF%E6%A4%9C%E6%9F%BB%E3%83%BB%E8%84%B3MRI%E3%83%BB%E7%A5%9E%E7%B5%8C%E4%BC%9D%E5%B0%8E%E6%A4%9C%E6%9F%BB\"><\/span>\u5c3f\u691c\u67fb\u30fb\u8133MRI\u30fb\u795e\u7d4c\u4f1d\u5c0e\u691c\u67fb<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3053\u308c\u3089\u306e\u691c\u67fb\u306f\u3001\u9175\u7d20\u6d3b\u6027\u6e2c\u5b9a\u30fb\u907a\u4f1d\u5b50\u691c\u67fb\u3092\u88dc\u3044\u3001\u9032\u884c\u5ea6\u3092\u8a55\u4fa1\u3059\u308b\u305f\u3081\u306b\u7d44\u307f\u5408\u308f\u305b\u3066\u5b9f\u65bd\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5c3f\u691c\u67fb\uff1a\u30b9\u30eb\u30d5\u30a1\u30c1\u30c9\u306e\u6392\u6cc4\u91cf\u306e\u5897\u52a0\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8133MRI\uff1a\u767d\u8cea\u306e\u8131\u9ac4\u306b\u3088\u308bT2\u5f37\u8abf\u753b\u50cf\u3067\u306e\u9ad8\u4fe1\u53f7\uff08\u5de6\u53f3\u5bfe\u79f0\uff09\u3001\u30bf\u30a4\u30b0\u30ed\u30a4\u30c9\u6a21\u69d8\uff08tigroid pattern\uff09\u304c\u7279\u5fb4\u7684\u3067\u3001Loes\u30b9\u30b3\u30a2\u3067\u9032\u884c\u3092\u8a55\u4fa1\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u795e\u7d4c\u4f1d\u5c0e\u691c\u67fb\uff1a\u904b\u52d5\u30fb\u611f\u899a\u795e\u7d4c\u306e\u4f1d\u5c0e\u901f\u5ea6\u306e\u4f4e\u4e0b\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\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_Treatment_Management\"><\/span>\u6cbb\u7642\u6cd5\u3068\u7ba1\u7406 | Treatment &amp; Management<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u6cbb\u7642\u306e\u9078\u629e\u80a2\u306f\u3001\u767a\u75c7\u524d\u30fb\u65e9\u671f\u306b\u898b\u3064\u304b\u308b\u304b\u3069\u3046\u304b\u3067\u5927\u304d\u304f\u5909\u308f\u308a\u307e\u3059\u3002<\/strong>\u8fd1\u5e74\u306f\u907a\u4f1d\u5b50\u6cbb\u7642\u3068\u3044\u3046\u65b0\u3057\u3044\u9078\u629e\u80a2\u3082\u767b\u5834\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E7%96%BE%E6%82%A3%E4%BF%AE%E9%A3%BE%E6%B2%BB%E7%99%82\"><\/span>1. \u75be\u60a3\u4fee\u98fe\u6cbb\u7642<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%96%A0_%E9%81%BA%E4%BC%9D%E5%AD%90%E6%B2%BB%E7%99%82%EF%BC%9AAtidarsagene_autotemcel%EF%BC%88Libmeldy%EF%BC%89\"><\/span>\u25a0 \u907a\u4f1d\u5b50\u6cbb\u7642\uff1aAtidarsagene autotemcel\uff08Libmeldy\uff09<span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u81ea\u5bb6\u9020\u8840\u5e79\u7d30\u80de\u306b\u6a5f\u80fd\u6027ARSA\u907a\u4f1d\u5b50\u3092\u5c0e\u5165\u3059\u308b\u6cbb\u7642\u6cd5\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u9069\u5fdc\uff1a\u7121\u75c7\u72b6\u307e\u305f\u306f\u521d\u671f\u306e\u4e73\u5150\u578b\u30fb\u82e5\u5e74\u578b\u3002<\/li>\n\n\n\n<li>\u6b27\u5dde\uff08EMA\u30012020\u5e74\u627f\u8a8d\uff09\u3001\u7c73\u56fd\uff08FDA\u30012024\u5e74\u3001Lenmeldy\u306e\u540d\u79f0\uff09\u3067\u627f\u8a8d\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u672c\u8a18\u4e8b\u306e\u57f7\u7b46\u6642\u70b9\u3067\u65e5\u672c\u56fd\u5185\u3067\u306e\u85ac\u4e8b\u627f\u8a8d\u60c5\u5831\u306f\u78ba\u8a8d\u3067\u304d\u3066\u304a\u3089\u305a\u3001\u5b9f\u65bd\u306e\u53ef\u5426\u306f\u4e3b\u6cbb\u533b\u3084\u5c02\u9580\u533b\u7642\u6a5f\u95a2\u306b\u3054\u78ba\u8a8d\u304f\u3060\u3055\u3044\u3002<\/li>\n\n\n\n<li>\u767a\u75c7\u524d\u30fb\u65e9\u671f\u306b\u6cbb\u7642\u3092\u53d7\u3051\u3089\u308c\u305f\u5834\u5408\u3001\u904b\u52d5\u30fb\u8a8d\u77e5\u6a5f\u80fd\u306e\u4fdd\u6301\u3084\u751f\u5b58\u671f\u9593\u306e\u5ef6\u9577\u304c\u671f\u5f85\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%96%A0_%E5%90%8C%E7%A8%AE%E9%80%A0%E8%A1%80%E5%B9%B9%E7%B4%B0%E8%83%9E%E7%A7%BB%E6%A4%8D%EF%BC%88HSCT%EF%BC%89\"><\/span>\u25a0 \u540c\u7a2e\u9020\u8840\u5e79\u7d30\u80de\u79fb\u690d\uff08HSCT\uff09<span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u9069\u5fdc\uff1a\u767a\u75c7\u524d\u307e\u305f\u306f\u8efd\u5ea6\u75c7\u72b6\u306e\u82e5\u5e74\u578b\u30fb\u6210\u4eba\u578b\u3002<\/li>\n\n\n\n<li>\u30ea\u30b9\u30af\uff1aGVHD\uff08\u79fb\u690d\u7247\u5bfe\u5bbf\u4e3b\u75c5\uff09\u3001\u611f\u67d3\u75c7\u3001\u79fb\u690d\u95a2\u9023\u6b7b\u4ea1\u3002<\/li>\n\n\n\n<li>\u4e73\u5150\u578b\u3067\u306f\u9032\u884c\u304c\u901f\u3044\u305f\u3081\u3001\u5bfe\u5fdc\u3057\u304d\u308c\u306a\u3044\u3053\u3068\u304c\u591a\u3044\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E6%94%AF%E6%8F%B4%E7%9A%84%E3%82%B1%E3%82%A2%EF%BC%88%E5%AF%BE%E7%97%87%E7%99%82%E6%B3%95%EF%BC%89\"><\/span>2. \u652f\u63f4\u7684\u30b1\u30a2\uff08\u5bfe\u75c7\u7642\u6cd5\uff09<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u75be\u60a3\u4fee\u98fe\u6cbb\u7642\u306e\u5bfe\u8c61\u306b\u306a\u3089\u306a\u3044\u5834\u5408\u3082\u3001\u751f\u6d3b\u306e\u8cea\u3092\u4fdd\u3064\u305f\u3081\u306e\u652f\u63f4\u306f\u6570\u591a\u304f\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u7406\u5b66\u7642\u6cd5\u30fb\u4f5c\u696d\u7642\u6cd5\uff08PT\/OT\uff09<\/li>\n\n\n\n<li>\u6297\u3066\u3093\u304b\u3093\u85ac\u306b\u3088\u308b\u767a\u4f5c\u7ba1\u7406<\/li>\n\n\n\n<li>\u98f2\u307f\u8fbc\u307f\u8a13\u7df4\u3001\u80c3\u308d\u3046\u9020\u8a2d\u306a\u3069\u306b\u3088\u308b\u6804\u990a\u30b5\u30dd\u30fc\u30c8<\/li>\n\n\n\n<li>\u8996\u529b\u30fb\u8074\u529b\u30b1\u30a2\u3001\u6559\u80b2\u7684\u652f\u63f4\u3001\u7cbe\u795e\u79d1\u7684\u4ecb\u5165<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%BA%88%E5%BE%8C_Prognosis\"><\/span>\u4e88\u5f8c | Prognosis<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u4e88\u5f8c\u306f\u578b\u306b\u3088\u3063\u3066\u5927\u304d\u304f\u7570\u306a\u308a\u3001\u767a\u75c7\u5e74\u9f62\u304c\u65e9\u3044\u307b\u3069\u9032\u884c\u3082\u901f\u3044\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/strong>\u305f\u3060\u3057\u3001\u65e9\u671f\u6cbb\u7642\u3067\u898b\u901a\u3057\u304c\u5909\u308f\u308b\u53ef\u80fd\u6027\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u4e73\u5150\u578b\uff1a\u6025\u901f\u306b\u9032\u884c\u3057\u3001\u6b7b\u4ea1\u306f\u591a\u304f\u306e\u5834\u54085\u301c6\u6b73\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u82e5\u5e74\u578b\uff1a\u7de9\u5f90\u306b\u9032\u884c\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u591a\u304f\u306f\u6210\u4eba\u524d\u306b\u91cd\u5ea6\u306e\u969c\u5bb3\u306b\u81f3\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6210\u4eba\u578b\uff1a\u9032\u884c\u306f\u7de9\u3084\u304b\u3067\u751f\u5b58\u671f\u9593\u306f\u9577\u3044\u3082\u306e\u306e\u3001\u8a8d\u77e5\u30fb\u904b\u52d5\u6a5f\u80fd\u306f\u6700\u7d42\u7684\u306b\u8457\u3057\u304f\u4f4e\u4e0b\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u907a\u4f1d\u5b50\u6cbb\u7642\u304c\u9069\u5207\u306a\u6642\u671f\u306b\u884c\u308f\u308c\u308c\u3070\u3001\u9577\u671f\u7684\u306a\u4e88\u5f8c\u6539\u5584\u304c\u53ef\u80fd\u306a\u30b1\u30fc\u30b9\u3082\u3042\u308a\u307e\u3059\u3002\u3060\u304b\u3089\u3053\u305d\u91cd\u8981\u306a\u306e\u304c\u3001\u767a\u75c7\u524d\u30fb\u7121\u75c7\u72b6\u306e\u6bb5\u968e\u3067\u306e\u8a3a\u65ad\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%8C%87%E5%AE%9A%E9%9B%A3%E7%97%85%E3%83%BB%E5%B0%8F%E5%85%90%E6%85%A2%E6%80%A7%E7%89%B9%E5%AE%9A%E7%96%BE%E7%97%85%E3%81%A8%E3%81%97%E3%81%A6%E3%81%AE%E5%8C%BB%E7%99%82%E8%B2%BB%E5%8A%A9%E6%88%90\"><\/span>\u6307\u5b9a\u96e3\u75c5\u30fb\u5c0f\u5150\u6162\u6027\u7279\u5b9a\u75be\u75c5\u3068\u3057\u3066\u306e\u533b\u7642\u8cbb\u52a9\u6210<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u7570\u67d3\u6027\u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u306f\u3001\u5927\u4eba\u306f\u6307\u5b9a\u96e3\u75c519\u300c\u30e9\u30a4\u30bd\u30be\u30fc\u30e0\u75c5\u300d\u3001\u5b50\u3069\u3082\u306f\u5c0f\u5150\u6162\u6027\u7279\u5b9a\u75be\u75c5\uff08\u544a\u793a\u756a\u53f7112\uff09\u3068\u3057\u3066\u3001\u305d\u308c\u305e\u308c\u533b\u7642\u8cbb\u52a9\u6210\u5236\u5ea6\u306e\u5bfe\u8c61\u3067\u3059\u3002<\/strong>\u7533\u8acb\u5148\u306f\u304a\u4f4f\u307e\u3044\u306e\u4fdd\u5065\u6240\u30fb\u81ea\u6cbb\u4f53\u306e\u7a93\u53e3\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u52a9\u6210\u306e\u5bfe\u8c61\u3084\u81ea\u5df1\u8ca0\u62c5\u306e\u4e0a\u9650\u984d\u306f\u3001\u4e16\u5e2f\u306e\u6240\u5f97\u3084\u91cd\u75c7\u5ea6\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u307e\u3059\u3002\u533b\u7642\u8cbb\u52a9\u6210\u306e\u7a93\u53e3\u3092\u3054\u6848\u5185\u3059\u308b\u5834\u9762\u3067\u306f\u3001\u591a\u304f\u306e\u3054\u5bb6\u65cf\u304c\u300c\u3069\u3053\u306b\u76f8\u8ac7\u3059\u308c\u3070\u3044\u3044\u304b\u5206\u304b\u3089\u306a\u3044\u300d\u6bb5\u968e\u3067\u3044\u3063\u305f\u3093\u7acb\u3061\u6b62\u307e\u3063\u3066\u3057\u307e\u3046\u3068\u3053\u308d\u3092\u3001\u79c1\u305f\u3061\u3082\u6570\u591a\u304f\u898b\u3066\u304d\u307e\u3057\u305f\u3002\u307e\u305a\u306f\u4ee5\u4e0b\u306e\u516c\u5f0f\u60c5\u5831\u3067\u5bfe\u8c61\u75be\u75c5\u540d\u3068\u7533\u8acb\u306e\u6d41\u308c\u3092\u78ba\u8a8d\u3057\u305f\u3046\u3048\u3067\u3001\u62c5\u5f53\u533b\u3084\u533b\u7642\u30bd\u30fc\u30b7\u30e3\u30eb\u30ef\u30fc\u30ab\u30fc\u306b\u76f8\u8ac7\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4061\" target=\"_blank\" rel=\"noopener\">\u96e3\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc\u300c\u30e9\u30a4\u30bd\u30be\u30fc\u30e0\u75c5\uff08\u6307\u5b9a\u96e3\u75c519\uff09\u300d<\/a>\uff1a\u6210\u4eba\u306e\u533b\u7642\u8cbb\u52a9\u6210\u306e\u5bfe\u8c61\u30fb\u8a3a\u65ad\u57fa\u6e96\u3002<\/li>\n\n\n\n<li><a href=\"https:\/\/www.shouman.jp\/disease\/details\/08_06_088\/\" target=\"_blank\" rel=\"noopener\">\u5c0f\u5150\u6162\u6027\u7279\u5b9a\u75be\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc\u300c\u7570\u67d3\u6027\u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u300d\u6982\u8981<\/a>\uff1a\u5c0f\u5150\u306e\u533b\u7642\u8cbb\u52a9\u6210\u306e\u5bfe\u8c61\u75be\u75c5\u3068\u3057\u3066\u306e\u4f4d\u7f6e\u3065\u3051\u3002<\/li>\n\n\n\n<li><a href=\"https:\/\/www.shouman.jp\/disease\/instructions\/08_06_088\/\" target=\"_blank\" rel=\"noopener\">\u540c\u300c\u8a3a\u65ad\u306e\u624b\u5f15\u304d\u300d<\/a>\uff1a\u8a3a\u65ad\u57fa\u6e96\u306e\u8a73\u7d30\u3002<\/li>\n\n\n\n<li><a href=\"https:\/\/www.mhlw.go.jp\/content\/10905000\/001173455.pdf\" target=\"_blank\" rel=\"noopener\">\u539a\u751f\u52b4\u50cd\u7701\u300c19 \u30e9\u30a4\u30bd\u30be\u30fc\u30e0\u75c5\u300d\u6982\u8981\u8cc7\u6599<\/a>\uff1a\u6307\u5b9a\u96e3\u75c5\u3068\u3057\u3066\u306e\u75be\u60a3\u6982\u5ff5\u30fb\u8a3a\u65ad\u57fa\u6e96\u306e\u516c\u7684\u8cc7\u6599\u3002<\/li>\n<\/ul>\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%EF%BC%88FAQ%EF%BC%89\"><\/span>\u3088\u304f\u3042\u308b\u8cea\u554f\uff08FAQ\uff09<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u7570\u67d3\u6027\u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u306b\u3064\u3044\u3066\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u73fe\u5834\u3067\u3088\u304f\u3044\u305f\u3060\u304f\u8cea\u554f\u306b\u304a\u7b54\u3048\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%95%B0%E6%9F%93%E6%80%A7%E7%99%BD%E8%B3%AA%E3%82%B8%E3%82%B9%E3%83%88%E3%83%AD%E3%83%95%E3%82%A3%E3%83%BC%E3%81%A8%E3%83%A1%E3%82%BF%E3%82%AF%E3%83%AD%E3%83%9E%E3%83%81%E3%83%83%E3%82%AF%E7%99%BD%E8%B3%AA%E3%82%B8%E3%82%B9%E3%83%88%E3%83%AD%E3%83%95%E3%82%A3%E3%83%BC%E3%81%AF%E5%90%8C%E3%81%98%E7%97%85%E6%B0%97%E3%81%A7%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span>\u7570\u67d3\u6027\u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u3068\u30e1\u30bf\u30af\u30ed\u30de\u30c1\u30c3\u30af\u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u306f\u540c\u3058\u75c5\u6c17\u3067\u3059\u304b\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u306f\u3044\u3001\u540c\u3058\u75be\u60a3\u3092\u6307\u3059\u540d\u79f0\u3067\u3059\u3002\u56fd\u5185\u306e\u516c\u7684\u8cc7\u6599\u3067\u306f\u300c\u7570\u67d3\u6027\u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u300d\u3001\u56fd\u969b\u7684\u306b\u306f\u82f1\u8a9e\u8868\u8a18\u304b\u3089\u300c\u30e1\u30bf\u30af\u30ed\u30de\u30c1\u30c3\u30af\u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u300d\u300cMLD\u300d\u3068\u3082\u547c\u3070\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%B8%A1%E8%A6%AA%E3%81%8C%E3%81%A8%E3%82%82%E3%81%AB%E4%BF%9D%E5%9B%A0%E8%80%85%E3%81%AE%E5%A0%B4%E5%90%88%E3%80%81%E6%AC%A1%E3%81%AE%E5%AD%90%E3%82%82%E7%99%BA%E7%97%87%E3%81%97%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span>\u4e21\u89aa\u304c\u3068\u3082\u306b\u4fdd\u56e0\u8005\u306e\u5834\u5408\u3001\u6b21\u306e\u5b50\u3082\u767a\u75c7\u3057\u307e\u3059\u304b\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u306e\u305f\u3081\u3001\u4e21\u89aa\u304c\u3068\u3082\u306b\u4fdd\u56e0\u8005\u3067\u3042\u308c\u3070\u3001\u6b21\u306e\u304a\u5b50\u3055\u3093\u304c\u767a\u75c7\u3059\u308b\u78ba\u7387\u306f\u7406\u8ad6\u4e0a25%\u3067\u3059\u3002\u767a\u75c7\u3057\u306a\u3044\u78ba\u7387\u306e\u307b\u3046\u304c\u9ad8\u3044\u4e00\u65b9\u3067\u30bc\u30ed\u3067\u306f\u306a\u3044\u305f\u3081\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u8a73\u3057\u3044\u8aac\u660e\u3092\u53d7\u3051\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%A6%8A%E5%A8%A0%E4%B8%AD%E3%82%84NIPT%E3%81%A7%E8%A6%8B%E3%81%A4%E3%81%91%E3%82%8B%E3%81%93%E3%81%A8%E3%81%AF%E3%81%A7%E3%81%8D%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span>\u598a\u5a20\u4e2d\u3084NIPT\u3067\u898b\u3064\u3051\u308b\u3053\u3068\u306f\u3067\u304d\u307e\u3059\u304b\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u57fa\u672c\u7684\u306aNIPT\uff08\u30c8\u30ea\u30bd\u30df\u30fc\u7b49\uff09\u306e\u5bfe\u8c61\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u3092\u542b\u3080\u62e1\u5f35\u30d1\u30cd\u30eb\u691c\u67fb\u3067ARSA\u907a\u4f1d\u5b50\u306e\u4fdd\u56e0\u8005\u30ea\u30b9\u30af\u3092\u628a\u63e1\u3067\u304d\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002\u78ba\u5b9a\u8a3a\u65ad\u306b\u306f\u51fa\u751f\u5f8c\u306e\u9175\u7d20\u6d3b\u6027\u6e2c\u5b9a\u30fb\u907a\u4f1d\u5b50\u691c\u67fb\u3001\u307e\u305f\u306f\u5bb6\u7cfb\u5185\u306b\u60a3\u8005\u304c\u3044\u308b\u5834\u5408\u306e\u51fa\u751f\u524d\u306e\u78ba\u5b9a\u691c\u67fb\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%85%B5%E7%B4%A0%E6%B4%BB%E6%80%A7%E3%81%8C%E4%BD%8E%E3%81%84%E3%81%A8%E8%A8%80%E3%82%8F%E3%82%8C%E3%81%BE%E3%81%97%E3%81%9F%E3%81%8C%E3%80%81%E5%BF%85%E3%81%9A%E7%99%BA%E7%97%87%E3%81%97%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span>\u9175\u7d20\u6d3b\u6027\u304c\u4f4e\u3044\u3068\u8a00\u308f\u308c\u307e\u3057\u305f\u304c\u3001\u5fc5\u305a\u767a\u75c7\u3057\u307e\u3059\u304b\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u305d\u3046\u3068\u306f\u9650\u308a\u307e\u305b\u3093\u3002\u4e16\u754c\u306730\u301c35%\u306e\u4eba\u304c\u6301\u3064\u300c\u507dARSA\u6b20\u640d\u75c7\u300d\u3067\u306f\u3001\u9175\u7d20\u6d3b\u6027\u304c\u4f4e\u304f\u3066\u3082\u767a\u75c7\u3057\u307e\u305b\u3093\u3002\u9175\u7d20\u6d3b\u6027\u691c\u67fb\u3060\u3051\u3067\u5224\u65ad\u305b\u305a\u3001\u907a\u4f1d\u5b50\u691c\u67fb\u307e\u3067\u78ba\u8a8d\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%B2%BB%E7%99%82%E6%B3%95%E3%81%AF%E3%81%82%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span>\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u3059\u304b\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u7121\u75c7\u72b6\u30fb\u65e9\u671f\u306e\u4e73\u5150\u578b\u3084\u82e5\u5e74\u578b\u3067\u306f\u3001\u907a\u4f1d\u5b50\u6cbb\u7642\uff08Libmeldy\uff09\u3084\u9020\u8840\u5e79\u7d30\u80de\u79fb\u690d\u304c\u9078\u629e\u80a2\u306b\u306a\u308a\u5f97\u307e\u3059\u3002\u3059\u3067\u306b\u75c7\u72b6\u304c\u9032\u3093\u3060\u5834\u5408\u306f\u3001\u7406\u5b66\u7642\u6cd5\u3084\u6297\u3066\u3093\u304b\u3093\u85ac\u306a\u3069\u306e\u652f\u63f4\u7684\u30b1\u30a2\u304c\u4e2d\u5fc3\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%8C%BB%E7%99%82%E8%B2%BB%E3%81%AE%E5%8A%A9%E6%88%90%E3%81%AF%E3%81%82%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span>\u533b\u7642\u8cbb\u306e\u52a9\u6210\u306f\u3042\u308a\u307e\u3059\u304b\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5927\u4eba\u306f\u6307\u5b9a\u96e3\u75c519\u300c\u30e9\u30a4\u30bd\u30be\u30fc\u30e0\u75c5\u300d\u3001\u5b50\u3069\u3082\u306f\u5c0f\u5150\u6162\u6027\u7279\u5b9a\u75be\u75c5\uff08\u544a\u793a\u756a\u53f7112\uff09\u3068\u3057\u3066\u3001\u533b\u7642\u8cbb\u52a9\u6210\u5236\u5ea6\u306e\u5bfe\u8c61\u3067\u3059\u3002\u7533\u8acb\u7a93\u53e3\u306f\u304a\u4f4f\u307e\u3044\u306e\u4fdd\u5065\u6240\u30fb\u81ea\u6cbb\u4f53\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<div class=\"cta-box\" style=\"text-align:center;margin:2em 0;padding:1.2em;background:#fff5f7;border-radius:12px;\">\n<p style=\"font-weight:bold;margin-bottom:0.8em;\">\u25bc \u598a\u5a20\u4e2d\u306e\u4e0d\u5b89\u3092\u3001\u3072\u3068\u308a\u3067\u62b1\u3048\u306a\u3044\u3067\u304f\u3060\u3055\u3044<\/p>\n<p style=\"margin:0.4em 0;\"><a href=\"https:\/\/mypage-nipt-reservation.hiro-clinic.or.jp\/registration\" target=\"_blank\" rel=\"noopener\" style=\"display:inline-block;padding:0.7em 1.6em;background:#e8608a;color:#fff;border-radius:30px;text-decoration:none;font-weight:bold;\">NIPT\u306e\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/a><\/p>\n<p style=\"margin:0.4em 0;\"><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/line-registration\/\" target=\"_blank\" rel=\"noopener\" style=\"display:inline-block;padding:0.7em 1.6em;background:#06c755;color:#fff;border-radius:30px;text-decoration:none;font-weight:bold;\">LINE\u3067\u7121\u6599\u76f8\u8ac7\u3059\u308b<\/a><\/p>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%96%A2%E9%80%A3%E3%81%99%E3%82%8B%E5%8D%98%E4%B8%80%E9%81%BA%E4%BC%9D%E5%AD%90%E7%96%BE%E6%82%A3%E3%83%BBNIPT%E3%81%AE%E5%9F%BA%E7%A4%8E%E7%9F%A5%E8%AD%98\"><\/span>\u95a2\u9023\u3059\u308b\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u30fbNIPT\u306e\u57fa\u790e\u77e5\u8b58<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>NIPT\u306e\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u30d1\u30cd\u30eb\u306b\u306f\u3001\u7570\u67d3\u6027\u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u306e\u307b\u304b\u306b\u3082\u591a\u304f\u306e\u75be\u60a3\u304c\u542b\u307e\u308c\u3066\u3044\u307e\u3059\u3002\u3042\u308f\u305b\u3066\u77e5\u3063\u3066\u304a\u304f\u3068\u3001\u62e1\u5f35\u30d1\u30cd\u30eb\u691c\u67fb\u5168\u4f53\u306e\u4f4d\u7f6e\u3065\u3051\u304c\u3064\u304b\u307f\u3084\u3059\u304f\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/homocystinuria-cbs-deficiency-overview\/\">\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<\/a>\uff1a\u540c\u3058\u304f\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u5f62\u5f0f\u3092\u3068\u308b\u4ee3\u8b1d\u6027\u75be\u60a3\u3067\u3059\u3002<\/li>\n\n\n\n<li><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/citrullinemia-type-1-overview\/\">\u30b7\u30c8\u30eb\u30ea\u30f3\u8840\u75c71\u578b\uff08\u30a2\u30eb\u30ae\u30cb\u30ce\u30b3\u30cf\u30af\u9178\u5408\u6210\u9175\u7d20\u6b20\u640d\u75c7\uff09\u3010ASS1\u3011<\/a>\uff1a\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u30d1\u30cd\u30eb\u306b\u542b\u307e\u308c\u308b\u4ee3\u8b1d\u75be\u60a3\u306e\u4e00\u4f8b\u3067\u3059\u3002<\/li>\n\n\n\n<li><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-types-comparison-guide\/\">NIPT\uff08\u65b0\u578b\u51fa\u751f\u524d\u8a3a\u65ad\uff09\u306e\u7a2e\u985e\u3068\u7cbe\u5ea6\u3092\u3084\u3055\u3057\u304f\u89e3\u8aac<\/a>\uff1a\u57fa\u672c\u691c\u67fb\u3068\u62e1\u5f35\u30d1\u30cd\u30eb\u691c\u67fb\u306e\u9055\u3044\u3092\u6574\u7406\u3057\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\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%EF%BD%9CReferences\"><\/span>\u5f15\u7528\u6587\u732e\uff5cReferences<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\/sites\/books\/NBK1130\/\">Gomez-Ospina N. Arylsulfatase A Deficiency. 2006 May 30 [Updated 2024 Apr 25]. 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\/sites\/books\/NBK1130\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK560744\/\">Lamichhane A, Rocha Cabrero F. Metachromatic Leukodystrophy. [Updated 2023 Jul 17]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan-. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK560744\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1186\/s13023-023-02814-2\">Armstrong, N., Olaye, A., Noake, C. <em>et al.<\/em> A systematic review of clinical effectiveness and safety for historical and current treatment options for metachromatic leukodystrophy in children, including atidarsagene autotemcel. <em>Orphanet J Rare Dis<\/em> <strong>18<\/strong>, 248 (2023). https:\/\/doi.org\/10.1186\/s13023-023-02814-2<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.jcyt.2024.03.487\">Adang, Laura A., et al. \u2018Consensus Guidelines for the Monitoring and Management of Metachromatic Leukodystrophy in the United States\u2019. <em>Cytotherapy<\/em>, vol. 26, no. 7, July 2024, pp. 739\u201348. <em>DOI.org (Crossref)<\/em>, https:\/\/doi.org\/10.1016\/j.jcyt.2024.03.487.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1186\/s13023-024-03044-w\">Chang, SC., Bergamasco, A., Bonnin, M. <em>et al.<\/em> A systematic review on the birth prevalence of metachromatic leukodystrophy. <em>Orphanet J Rare Dis<\/em> <strong>19<\/strong>, 80 (2024). https:\/\/doi.org\/10.1186\/s13023-024-03044-w<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.ejpn.2023.06.005\">Jonckheere, An I., et al. \u2018Metachromatic Leukodystrophy: To Screen or Not to Screen?\u2019 <em>European Journal of Paediatric Neurology<\/em>, vol. 46, Sept. 2023, pp. 1\u20137. <em>DOI.org (Crossref)<\/em>, https:\/\/doi.org\/10.1016\/j.ejpn.2023.06.005.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/39460617\/\">Perez G, Barber GP, Benet-Pages A, Casper J, Clawson H, Diekhans M, Fischer C, Gonzalez JN, Hinrichs AS, Lee CM, Nassar LR, Raney BJ, Speir ML, van Baren MJ, Vaske CJ, Haussler D, Kent WJ, Haeussler M. The UCSC Genome Browser database: 2025 update. Nucleic Acids Res. 2025 Jan 6;53(D1):D1243-D1249. doi: 10.1093\/nar\/gkae974. PMID: 39460617; PMCID: PMC11701590.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4061\" target=\"_blank\" rel=\"noopener\">\u96e3\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc\u300c\u30e9\u30a4\u30bd\u30be\u30fc\u30e0\u75c5\uff08\u6307\u5b9a\u96e3\u75c519\uff09\u300d<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.shouman.jp\/disease\/details\/08_06_088\/\" target=\"_blank\" rel=\"noopener\">\u5c0f\u5150\u6162\u6027\u7279\u5b9a\u75be\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc\u300c\u7570\u67d3\u6027\u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u300d\u6982\u8981<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.mhlw.go.jp\/content\/10905000\/001173455.pdf\" target=\"_blank\" rel=\"noopener\">\u539a\u751f\u52b4\u50cd\u7701\u300c19 \u30e9\u30a4\u30bd\u30be\u30fc\u30e0\u75c5\u300d\u6982\u8981\u8cc7\u6599<\/a><\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%82%AD%E3%83%BC%E3%83%AF%E3%83%BC%E3%83%89%EF%BD%9CKeywords\"><\/span>\u30ad\u30fc\u30ef\u30fc\u30c9\uff5cKeywords<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p class=\"has-text-align-center\"><sup><sup>\u7570\u67d3\u6027\u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc, \u30e1\u30bf\u30af\u30ed\u30de\u30c1\u30c3\u30af\u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc, MLD, \u30a2\u30ea\u30eb\u30b9\u30eb\u30d5\u30a1\u30bf\u30fc\u30bcA, ARSA, \u30b9\u30eb\u30d5\u30a1\u30c1\u30c9, \u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc, \u907a\u4f1d\u5b50\u6cbb\u7642, Libmeldy, \u9020\u8840\u5e79\u7d30\u80de\u79fb\u690d, \u65b0\u751f\u5150\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0, \u30df\u30a8\u30ea\u30f3, \u7cbe\u795e\u75c7\u72b6, PSAP, \u30b5\u30dd\u30b7\u30f3B, ARSA\u5909\u7570, \u507d\u6b20\u640d\u30a2\u30ec\u30eb, \u30aa\u30fc\u30d5\u30a1\u30f3\u30c7\u30a3\u30b8\u30fc\u30ba, \u6307\u5b9a\u96e3\u75c5, \u5c0f\u5150\u6162\u6027\u7279\u5b9a\u75be\u75c5, \u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d, \u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0, \u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0<\/sup><\/sup><\/p>\n\n\n\n<hr\/>\n<p style=\"font-size:0.9em;color:#555;\"><strong>\u76e3\u4fee\uff1a\u5ca1 \u535a\u53f2\uff08\u304a\u304b \u3072\u308d\u3057\uff09<\/strong>\uff0f\u533b\u7642\u6cd5\u4eba\u793e\u56e3\u798f\u7f8e\u4f1a \u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u7d71\u62ec\u9662\u9577\u30fbLabo Director\u3002\u6176\u61c9\u7fa9\u587e\u5927\u5b66\u533b\u5b66\u90e8\u5352\u696d\u3002\u65e5\u672c\u3068\u30a2\u30e1\u30ea\u30ab\u306e\u533b\u5e2b\u56fd\u5bb6\u8a66\u9a13\u306b\u5408\u683c\u3057\u3001\u533b\u5b66\u535a\u58eb\u3002\u56fd\u5185\u3067\u3082\u6570\u5c11\u306a\u3044\u30e9\u30dc\u30c7\u30a3\u30ec\u30af\u30bf\u30fc\u8cc7\u683c\u3092\u4fdd\u6709\u3057\u3066\u3044\u307e\u3059\u3002\u8457\u66f8\u300e\u598a\u5a20\u3057\u305f\u3089\u6700\u521d\u306b\u8aad\u3093\u3067\u6b32\u3057\u3044\u672c\u300f\u3002\u672c\u8a18\u4e8b\u306f\u533b\u7642\u5e83\u544a\u30ac\u30a4\u30c9\u30e9\u30a4\u30f3\u306b\u914d\u616e\u3057\u3001\u96e3\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc\u30fb\u5c0f\u5150\u6162\u6027\u7279\u5b9a\u75be\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc\u30fb\u539a\u751f\u52b4\u50cd\u7701\u30fbGeneReviews\u7b49\u306e\u516c\u7684\u6a5f\u95a2\u30fb\u5b66\u8853\u60c5\u5831\u3092\u53c2\u7167\u3057\u3066\u4f5c\u6210\u3057\u3066\u3044\u307e\u3059\u3002\u8a18\u8f09\u306e\u6570\u5024\u306f\u6587\u732e\u306b\u3088\u308a\u5e45\u304c\u3042\u308a\u3001\u8a3a\u65ad\u30fb\u6cbb\u7642\u30fb\u533b\u7642\u8cbb\u52a9\u6210\u306e\u6700\u7d42\u5224\u65ad\u306f\u62c5\u5f53\u533b\u30fb\u5c02\u9580\u6a5f\u95a2\u306b\u3054\u76f8\u8ac7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<!-- 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