{"id":108338,"date":"2025-07-30T15:16:52","date_gmt":"2025-07-30T06:16:52","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=108338"},"modified":"2026-07-22T05:25:36","modified_gmt":"2026-07-21T20:25:36","slug":"treatable-intellectual-disability-genetics","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/treatable-intellectual-disability-genetics\/","title":{"rendered":"\u300c\u5909\u308f\u3089\u306a\u3044\u300d\u3068\u3055\u308c\u3066\u304d\u305f\u77e5\u7684\u969c\u5bb3\u306b\u3001\u6839\u62e0\u3042\u308b\u5e0c\u671b\u3092\u898b\u3064\u3051\u308b\u6642\u4ee3\u3078"},"content":{"rendered":"\n<p><strong><a 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>\u539f\u56e0\u3092\u8abf\u3079\u308b\u691c\u67fb\u306b\u306f\u3001\u3069\u3093\u306a\u7a2e\u985e\u304c\u3042\u308b\u306e\u3067\u3057\u3087\u3046\u304b<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/treatable-intellectual-disability-genetics\/#%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%E3%82%8F%E3%81%8B%E3%82%8B%E3%81%93%E3%81%A8%E3%80%81%E3%82%8F%E3%81%8B%E3%82%89%E3%81%AA%E3%81%84%E3%81%93%E3%81%A8\" >\u65b0\u751f\u5150\u30de\u30b9\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3067\u308f\u304b\u308b\u3053\u3068\u3001\u308f\u304b\u3089\u306a\u3044\u3053\u3068<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/treatable-intellectual-disability-genetics\/#%E7%97%85%E6%85%8B%E3%81%AB%E5%9F%BA%E3%81%A5%E3%81%8F%E6%96%B0%E3%81%97%E3%81%84%E6%B2%BB%E7%99%82%E6%B3%95_%E2%80%95_4%E3%81%A4%E3%81%AE%E5%AE%9F%E4%BE%8B\" >\u75c5\u614b\u306b\u57fa\u3065\u304f\u65b0\u3057\u3044\u6cbb\u7642\u6cd5 \u2015 4\u3064\u306e\u5b9f\u4f8b<\/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\/treatable-intellectual-disability-genetics\/#%E6%B2%BB%E7%99%82%E3%81%AB%E3%81%9F%E3%81%A9%E3%82%8A%E7%9D%80%E3%81%8F%E3%81%BE%E3%81%A7%E3%81%AE%E8%AA%B2%E9%A1%8C_%E2%80%95_%E3%82%A8%E3%83%93%E3%83%87%E3%83%B3%E3%82%B9%E3%81%AE%E8%B3%AA%E3%81%A8%E3%82%A2%E3%82%AF%E3%82%BB%E3%82%B9%E3%81%AE%E6%A0%BC%E5%B7%AE\" >\u6cbb\u7642\u306b\u305f\u3069\u308a\u7740\u304f\u307e\u3067\u306e\u8ab2\u984c \u2015 \u30a8\u30d3\u30c7\u30f3\u30b9\u306e\u8cea\u3068\u30a2\u30af\u30bb\u30b9\u306e\u683c\u5dee<\/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\/treatable-intellectual-disability-genetics\/#NIPT%E3%81%A7%E3%82%8F%E3%81%8B%E3%82%8B%E3%81%93%E3%81%A8%E3%80%81%E5%87%BA%E7%94%9F%E5%BE%8C%E3%81%AE%E9%81%BA%E4%BC%9D%E5%AD%A6%E7%9A%84%E6%A4%9C%E6%9F%BB%E3%81%A7%E3%82%8F%E3%81%8B%E3%82%8B%E3%81%93%E3%81%A8\" >NIPT\u3067\u308f\u304b\u308b\u3053\u3068\u3001\u51fa\u751f\u5f8c\u306e\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u3067\u308f\u304b\u308b\u3053\u3068<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/treatable-intellectual-disability-genetics\/#%E7%9F%A5%E7%9A%84%E9%9A%9C%E5%AE%B3%E3%82%92%E3%80%8C%E4%BB%8B%E5%85%A5%E5%8F%AF%E8%83%BD%E3%81%AA%E7%8A%B6%E6%85%8B%E3%80%8D%E3%81%A8%E3%81%97%E3%81%A6%E6%8D%89%E3%81%88%E7%9B%B4%E3%81%99\" >\u77e5\u7684\u969c\u5bb3\u3092\u300c\u4ecb\u5165\u53ef\u80fd\u306a\u72b6\u614b\u300d\u3068\u3057\u3066\u6349\u3048\u76f4\u3059<\/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\/treatable-intellectual-disability-genetics\/#%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-12\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/treatable-intellectual-disability-genetics\/#Q1_%E7%9F%A5%E7%9A%84%E9%9A%9C%E5%AE%B3%E3%81%AF%E6%9C%AC%E5%BD%93%E3%81%AB%E6%B2%BB%E7%99%82%E3%81%A7%E3%81%8D%E3%82%8B%E3%81%AE%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\" >Q1. \u77e5\u7684\u969c\u5bb3\u306f\u672c\u5f53\u306b\u6cbb\u7642\u3067\u304d\u308b\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-13\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/treatable-intellectual-disability-genetics\/#Q2_%E3%81%A9%E3%82%93%E3%81%AA%E6%A4%9C%E6%9F%BB%E3%82%92%E5%8F%97%E3%81%91%E3%82%8C%E3%81%B0%E5%8E%9F%E5%9B%A0%E3%81%8C%E3%82%8F%E3%81%8B%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >Q2. \u3069\u3093\u306a\u691c\u67fb\u3092\u53d7\u3051\u308c\u3070\u539f\u56e0\u304c\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-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/treatable-intellectual-disability-genetics\/#Q3_%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%82%92%E5%8F%97%E3%81%91%E3%82%8C%E3%81%B0%E3%80%81%E6%B2%BB%E7%99%82%E3%81%A7%E3%81%8D%E3%82%8B%E7%97%85%E6%B0%97%E3%81%AF%E3%81%99%E3%81%B9%E3%81%A6%E3%82%8F%E3%81%8B%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >Q3. \u65b0\u751f\u5150\u30de\u30b9\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3092\u53d7\u3051\u308c\u3070\u3001\u6cbb\u7642\u3067\u304d\u308b\u75c5\u6c17\u306f\u3059\u3079\u3066\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\/treatable-intellectual-disability-genetics\/#Q4_NIPT%EF%BC%88%E6%96%B0%E5%9E%8B%E5%87%BA%E7%94%9F%E5%89%8D%E8%A8%BA%E6%96%AD%EF%BC%89%E3%81%A7%E7%9F%A5%E7%9A%84%E9%9A%9C%E5%AE%B3%E3%81%AE%E5%8E%9F%E5%9B%A0%E3%81%BE%E3%81%A7%E3%82%8F%E3%81%8B%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >Q4. NIPT\uff08\u65b0\u578b\u51fa\u751f\u524d\u8a3a\u65ad\uff09\u3067\u77e5\u7684\u969c\u5bb3\u306e\u539f\u56e0\u307e\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-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/treatable-intellectual-disability-genetics\/#Q5_%E6%A4%9C%E6%9F%BB%E3%82%92%E3%81%97%E3%81%A6%E3%82%82%E5%8E%9F%E5%9B%A0%E3%81%8C%E8%A6%8B%E3%81%A4%E3%81%8B%E3%82%89%E3%81%AA%E3%81%8B%E3%81%A3%E3%81%9F%E5%A0%B4%E5%90%88%E3%81%AF%E3%81%A9%E3%81%86%E3%81%99%E3%82%8C%E3%81%B0%E3%81%84%E3%81%84%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\" >Q5. \u691c\u67fb\u3092\u3057\u3066\u3082\u539f\u56e0\u304c\u898b\u3064\u304b\u3089\u306a\u304b\u3063\u305f\u5834\u5408\u306f\u3069\u3046\u3059\u308c\u3070\u3044\u3044\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\/treatable-intellectual-disability-genetics\/#Q6_%E3%80%8C%E6%84%8F%E7%BE%A9%E4%B8%8D%E6%98%8E%E3%81%AE%E5%A4%89%E7%95%B0%EF%BC%88VUS%EF%BC%89%E3%80%8D%E3%81%A8%E8%A8%80%E3%82%8F%E3%82%8C%E3%81%9F%E3%82%89%E3%80%81%E3%81%A9%E3%81%86%E5%8F%97%E3%81%91%E6%AD%A2%E3%82%81%E3%82%8C%E3%81%B0%E3%81%84%E3%81%84%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\" >Q6. \u300c\u610f\u7fa9\u4e0d\u660e\u306e\u5909\u7570\uff08VUS\uff09\u300d\u3068\u8a00\u308f\u308c\u305f\u3089\u3001\u3069\u3046\u53d7\u3051\u6b62\u3081\u308c\u3070\u3044\u3044\u3067\u3059\u304b\u3002<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-18\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/treatable-intellectual-disability-genetics\/#%E3%81%BE%E3%81%A8%E3%82%81_%E2%80%95_%E6%A0%B9%E6%8B%A0%E3%81%AE%E3%81%82%E3%82%8B%E5%B8%8C%E6%9C%9B%E3%81%A8%E3%81%A8%E3%82%82%E3%81%AB\" >\u307e\u3068\u3081 \u2015 \u6839\u62e0\u306e\u3042\u308b\u5e0c\u671b\u3068\u3068\u3082\u306b<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-19\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/treatable-intellectual-disability-genetics\/#%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-20\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/treatable-intellectual-disability-genetics\/#%E3%82%84%E3%81%95%E3%81%97%E3%81%84%E8%A8%80%E8%91%89%E3%81%AE%E8%AA%AC%E6%98%8E%EF%BD%9CHelpful_Terms\" >\u3084\u3055\u3057\u3044\u8a00\u8449\u306e\u8aac\u660e\uff5cHelpful Terms<\/a><\/li><\/ul><\/nav><\/div>\n<h2 style=\"margin-top: 0; margin-bottom: 0.75rem; font-size: 1.25rem; color: #2a79b8; text-align: left; border-bottom: 2px solid #a6cbdc; padding-bottom: 0.25rem;\"><span class=\"ez-toc-section\" id=\"%E3%81%93%E3%81%AE%E8%A8%98%E4%BA%8B%E3%81%A7%E3%82%8F%E3%81%8B%E3%82%8B%E3%81%93%E3%81%A8\"><\/span>\n  \u3053\u306e\u8a18\u4e8b\u3067\u308f\u304b\u308b\u3053\u3068\n<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<div style=\"font-size: 1rem; color: #333;\">\n<p style=\"margin: 0 0 0.5rem;\"><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u306e\u539f\u56e0\u3068\u3001\u6cbb\u7642\u306b\u3064\u306a\u304c\u308b\u53ef\u80fd\u6027\u306e\u3042\u308b\u691c\u67fb\u306b\u3064\u3044\u3066\u3001\u533b\u5b66\u7814\u7a76\u306b\u3082\u3068\u3065\u3044\u3066\u3084\u3055\u3057\u304f\u307e\u3068\u3081\u307e\u3057\u305f\u3002<\/p>\n<ul style=\"margin: 0; padding-left: 1.2rem;\">\n<li><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u306e\u539f\u56e0\u306e\u591a\u304f\u306b\u907a\u4f1d\u5b50\u3084\u4ee3\u8b1d\u306e\u7570\u5e38\u304c\u95a2\u308f\u308a\u3001\u7d041,300\u7a2e\u985e\u306e\u907a\u4f1d\u5b50\u304c\u95a2\u4fc2\u3057\u3066\u3044\u308b\u3053\u3068<\/li>\n<li>\u65e9\u671f\u6cbb\u7642\u3067\u767a\u9054\u3078\u306e\u5f71\u97ff\u3092\u6291\u3048\u3089\u308c\u308b\u5148\u5929\u6027\u4ee3\u8b1d\u7570\u5e38\u75c7\u304c\u3001\u73fe\u5728116\u75be\u60a3\u307e\u3067\u898b\u3064\u304b\u3063\u3066\u3044\u308b\u3053\u3068<\/li>\n<li>\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u3084\u65b0\u751f\u5150\u30de\u30b9\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u306a\u3069\u3001\u539f\u56e0\u3092\u8abf\u3079\u308b\u691c\u67fb\u306e\u7a2e\u985e\u3068\u3001\u305d\u308c\u305e\u308c\u306e\u9650\u754c<\/li>\n<li><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>\uff08\u65b0\u578b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\uff09\u3067\u308f\u304b\u308b\u3053\u3068\u3068\u3001\u51fa\u751f\u5f8c\u306e\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u3067\u308f\u304b\u308b\u3053\u3068\u306e\u9055\u3044<\/li>\n<\/ul>\n<\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%9F%A5%E7%9A%84%E9%9A%9C%E5%AE%B3%E3%81%AF%E3%80%8C%E4%B8%80%E7%94%9F%E5%A4%89%E3%82%8F%E3%82%89%E3%81%AA%E3%81%84%E3%82%82%E3%81%AE%E3%80%8D%E3%81%A7%E3%81%AF%E3%81%82%E3%82%8A%E3%81%BE%E3%81%9B%E3%82%93\"><\/span>\u77e5\u7684\u969c\u5bb3\u306f\u300c\u4e00\u751f\u5909\u308f\u3089\u306a\u3044\u3082\u306e\u300d\u3067\u306f\u3042\u308a\u307e\u305b\u3093<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u306f\u9577\u3044\u9593\u3001\u300c\u751f\u307e\u308c\u3064\u304d\u3067\u3001\u5909\u3048\u3089\u308c\u306a\u3044\u72b6\u614b\u300d\u3068\u8003\u3048\u3089\u308c\u3066\u304d\u307e\u3057\u305f\u3002\u3057\u304b\u3057\u8fd1\u5e74\u3001\u30b2\u30ce\u30e0\u533b\u7642\u3084\u795e\u7d4c\u751f\u7269\u5b66\u3001\u4ee3\u8b1d\u7814\u7a76\u304c\u9032\u3093\u3060\u3053\u3068\u3067\u3001\u3053\u306e\u8a8d\u8b58\u306f\u5c11\u3057\u305a\u3064\u5909\u308f\u308a\u3064\u3064\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7279\u306b\u3001\u5148\u5929\u6027\u4ee3\u8b1d\u7570\u5e38\u75c7\uff08Inborn Errors of Metabolism\uff1aIEMs\uff09\u3084\u3001\u5358\u4e00\u306e\u907a\u4f1d\u5b50\u306e\u5909\u5316\u304c\u539f\u56e0\u3068\u306a\u308b\u75c5\u6c17\uff08\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\uff09\u306b\u3088\u3063\u3066<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u304c\u751f\u3058\u3066\u3044\u308b\u304a\u5b50\u3055\u3093\u306e\u5834\u5408\u3001\u65e9\u671f\u306b\u5bfe\u5fdc\u3059\u308b\u3053\u3068\u3067\u767a\u9054\u3084\u884c\u52d5\u3001\u795e\u7d4c\u5b66\u7684\u306a\u9762\u3067\u6539\u5584\u304c\u898b\u3089\u308c\u305f\u3068\u3044\u3046\u5831\u544a\u304c\u5897\u3048\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3082\u3061\u308d\u3093\u3001\u77e5\u7684\u6a5f\u80fd\u304c\u3059\u3079\u3066\u56de\u5fa9\u3059\u308b\u3068\u306f\u9650\u308a\u307e\u305b\u3093\u3002\u305d\u308c\u3067\u3082\u3001\u6cbb\u7642\u306e\u6642\u671f\u3084\u65b9\u6cd5\u306b\u3088\u3063\u3066\u306f\u300c\u3067\u304d\u308b\u3053\u3068\u304c\u5897\u3048\u308b\u300d\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u306e\u8996\u70b9\u306f\u3001\u3054\u5bb6\u65cf\u306b\u3068\u3063\u3066\u3082\u533b\u7642\u8005\u306b\u3068\u3063\u3066\u3082\u3001\u300c\u4ed5\u65b9\u306e\u306a\u3044\u3053\u3068\u300d\u3067\u306f\u306a\u304f\u300c\u4e00\u7dd2\u306b\u8003\u3048\u3089\u308c\u308b\u3053\u3068\u300d\u3078\u306e\u8ee2\u63db\u70b9\u306b\u306a\u308a\u3064\u3064\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%9F%A5%E7%9A%84%E9%9A%9C%E5%AE%B3%E3%81%AE%E5%8E%9F%E5%9B%A0%E3%81%AF%E4%B8%80%E3%81%A4%E3%81%A7%E3%81%AF%E3%81%82%E3%82%8A%E3%81%BE%E3%81%9B%E3%82%93\"><\/span>\u77e5\u7684\u969c\u5bb3\u306e\u539f\u56e0\u306f\u4e00\u3064\u3067\u306f\u3042\u308a\u307e\u305b\u3093<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u306f\u3001\u77e5\u7684\u6a5f\u80fd\uff08IQ\u304c\u304a\u304a\u3088\u305d70\u4ee5\u4e0b\u306e\u76ee\u5b89\uff09\u3068\u3001\u65e5\u5e38\u751f\u6d3b\u306b\u5fc5\u8981\u306a\u9069\u5fdc\u884c\u52d5\u306e\u4e21\u65b9\u306b\u8457\u3057\u3044\u56f0\u96e3\u304c\u3042\u308a\u3001\u305d\u306e\u59cb\u307e\u308a\u304c\u767a\u9054\u671f\uff08\u4e73\u5150\u671f\u304b\u3089\u601d\u6625\u671f\u307e\u3067\uff09\u306b\u3042\u308b\u72b6\u614b\u3068\u3057\u3066\u5b9a\u7fa9\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u5b66\u7fd2\u3084\u63a8\u8ad6\u3001\u8a00\u8a9e\u3001\u5224\u65ad\u529b\u3001\u793e\u4f1a\u7684\u306a\u3084\u308a\u3068\u308a\u306a\u3069\u3001\u5e45\u5e83\u3044\u529b\u304c\u95a2\u308f\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5f93\u6765\u306f\u300c\u8efd\u5ea6\u300d\u300c\u4e2d\u7b49\u5ea6\u300d\u300c\u91cd\u5ea6\u300d\u300c\u6700\u91cd\u5ea6\u300d\u3068\u3044\u3046IQ\u306b\u3088\u308b\u5206\u985e\u304c\u4e2d\u5fc3\u3067\u3057\u305f\u3002\u3067\u3059\u304c\u8fd1\u5e74\u306e\u7814\u7a76\u3067\u306f\u3001\u3053\u306e\u5206\u985e\u3060\u3051\u3067\u306f\u80cc\u666f\u306b\u3042\u308b\u9055\u3044\u3092\u5341\u5206\u306b\u6349\u3048\u3089\u308c\u306a\u3044\u3053\u3068\u304c\u308f\u304b\u3063\u3066\u304d\u3066\u3044\u307e\u3059\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u306e\u80cc\u666f\u306b\u306f\u3001\u975e\u5e38\u306b\u591a\u69d8\u306a\u751f\u7269\u5b66\u7684\u539f\u56e0\u304c\u3042\u308b\u304b\u3089\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u73fe\u5728\u307e\u3067\u306b\u3001<strong>\u7d041,300\u7a2e\u985e\u4ee5\u4e0a\u306e\u907a\u4f1d\u5b50<\/strong>\u304c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3068\u95a2\u4fc2\u3057\u3066\u3044\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u305d\u306e\u4e2d\u3067\u3082\u3001\u9175\u7d20\u306e\u50cd\u304d\u306b\u95a2\u308f\u308b\u5148\u5929\u6027\u4ee3\u8b1d\u7570\u5e38\u75c7\u306e\u3088\u3046\u306b\u3001\u4f53\u5185\u306e\u5316\u5b66\u53cd\u5fdc\u304c\u3046\u307e\u304f\u3044\u304b\u306a\u3044\u3053\u3068\u3067\u8133\u306e\u767a\u9054\u306b\u5f71\u97ff\u3059\u308b\u75c5\u6c17\u306f\u3001\u65e9\u671f\u306e\u6cbb\u7642\u3067\u75c7\u72b6\u306e\u9032\u884c\u3092\u9632\u3052\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3064\u307e\u308a<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u306f\u3001\u4e00\u5f8b\u306b\u5909\u3048\u3089\u308c\u306a\u3044\u3082\u306e\u3067\u306f\u306a\u304f\u3001\u80cc\u666f\u306b\u3042\u308b\u4ed5\u7d44\u307f\u3092\u7406\u89e3\u3057\u3001\u9069\u5207\u306a\u65b9\u6cd5\u3067\u50cd\u304d\u304b\u3051\u308b\u3053\u3068\u3067\u3088\u308a\u826f\u3044\u65b9\u5411\u306b\u5909\u3048\u3066\u3044\u3051\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u72b6\u614b\u3068\u3057\u3066\u3001\u898b\u76f4\u3055\u308c\u3064\u3064\u3042\u308b\u306e\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%B2%BB%E7%99%82%E3%81%A7%E3%81%8D%E3%82%8B%E5%85%88%E5%A4%A9%E6%80%A7%E4%BB%A3%E8%AC%9D%E7%95%B0%E5%B8%B8%E7%97%87%E3%81%AF116%E7%96%BE%E6%82%A3%E3%81%BE%E3%81%A7%E5%BA%83%E3%81%8C%E3%81%A3%E3%81%A6%E3%81%84%E3%81%BE%E3%81%99\"><\/span>\u6cbb\u7642\u3067\u304d\u308b\u5148\u5929\u6027\u4ee3\u8b1d\u7570\u5e38\u75c7\u306f116\u75be\u60a3\u307e\u3067\u5e83\u304c\u3063\u3066\u3044\u307e\u3059<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>2021\u5e74\u306b\u767a\u8868\u3055\u308c\u305f\u5927\u898f\u6a21\u306a\u30ec\u30d3\u30e5\u30fc\u7814\u7a76\u3067\u306f\u3001\u6cbb\u7642\u304c\u53ef\u80fd\u3067\u3001\u304b\u3064<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3084\u767a\u9054\u306e\u9045\u308c\u3092\u4e3b\u306a\u7279\u5fb4\u3068\u3059\u308b\u5148\u5929\u6027\u4ee3\u8b1d\u7570\u5e38\u75c7\u304c<strong>116\u75be\u60a3<\/strong>\u3042\u308b\u3053\u3068\u304c\u793a\u3055\u308c\u307e\u3057\u305f\u30022014\u5e74\u6642\u70b9\u306e89\u75be\u60a3\u304b\u3089\u3001\u5927\u304d\u304f\u5897\u3048\u305f\u6570\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u7814\u7a76\u3067\u306f139\u306e\u907a\u4f1d\u5b50\u304c\u95a2\u4e0e\u3057\u3066\u3044\u308b\u3053\u3068\u304c\u660e\u3089\u304b\u306b\u3055\u308c\u3001\u305d\u308c\u305e\u308c\u306e\u75c5\u6c17\u306b\u3069\u306e\u3088\u3046\u306a\u6cbb\u7642\u304c\u4f7f\u3048\u308b\u304b\u3001\u305d\u306e\u6839\u62e0\u306e\u5f37\u3055\u3082\u8a55\u4fa1\u3055\u308c\u307e\u3057\u305f\u3002\u3053\u306e\u60c5\u5831\u306f\u73fe\u5728\u3001\u300cTreatable ID App\u300d\u3068\u3044\u3046\u81e8\u5e8a\u652f\u63f4\u30c4\u30fc\u30eb\u306b\u307e\u3068\u3081\u3089\u308c\u3001\u533b\u5e2b\u304c\u8a3a\u65ad\u3084\u6cbb\u7642\u3092\u3088\u308a\u65e9\u304f\u6b63\u78ba\u306b\u9032\u3081\u308b\u305f\u3081\u306e\u52a9\u3051\u306b\u306a\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6cbb\u7642\u306e\u65b9\u6cd5\u306f\u591a\u5c90\u306b\u308f\u305f\u308a\u307e\u3059\u304c\u3001\u4ee3\u8868\u7684\u306a\u3082\u306e\u306f\u6b21\u306e\u3068\u304a\u308a\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n\n<li>\u6804\u990a\u7642\u6cd5\uff08\u7279\u5b9a\u306e\u30a2\u30df\u30ce\u9178\u3084\u305f\u3093\u3071\u304f\u8cea\u306e\u6442\u53d6\u5236\u9650\u306a\u3069\uff09<\/li>\n\n\n<li>\u30d3\u30bf\u30df\u30f3\u3084\u88dc\u9175\u7d20\u306e\u88dc\u5145\u7642\u6cd5<\/li>\n\n\n<li>\u9175\u7d20\u88dc\u5145\u7642\u6cd5\uff08ERT\uff09<\/li>\n\n\n<li>\u907a\u4f1d\u5b50\u6cbb\u7642\uff08\u4e00\u90e8\u306e\u75be\u60a3\u3067\u81e8\u5e8a\u8a66\u9a13\u304c\u9032\u884c\u4e2d\uff09<\/li>\n\n\n<li>\u65e2\u5b58\u85ac\u3092\u8ee2\u7528\u3057\u305f\u3001\u4ee3\u8b1d\u3084\u795e\u7d4c\u6a5f\u80fd\u3092\u8abf\u6574\u3059\u308b\u85ac\u7269\u6cbb\u7642<\/li>\n\n<\/ul>\n\n\n\n<p>\u4ee3\u8868\u4f8b\u304c\u3001<a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4747\" target=\"_blank\" rel=\"noopener\">\u30d5\u30a7\u30cb\u30eb\u30b1\u30c8\u30f3\u5c3f\u75c7\uff08PKU\uff09<\/a>\u3067\u3059\u3002\u65e9\u671f\u306b\u98df\u4e8b\u7642\u6cd5\u3092\u59cb\u3081\u308b\u3053\u3068\u3067\u3001\u91cd\u5ea6\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3092\u307b\u307c\u5b8c\u5168\u306b\u4e88\u9632\u3067\u304d\u308b\u3053\u3068\u304c\u308f\u304b\u3063\u3066\u3044\u307e\u3059\u3002\u307b\u304b\u306e\u75be\u60a3\u3067\u3082\u3001\u65e9\u671f\u306e\u6cbb\u7642\u958b\u59cb\u306b\u3088\u3063\u3066\u767a\u9054\u3084\u884c\u52d5\u3001\u795e\u7d4c\u75c7\u72b6\u306e\u9032\u884c\u3092\u6291\u3048\u305f\u308a\u3001\u6539\u5584\u3055\u305b\u305f\u308a\u3067\u304d\u308b\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3059\u3079\u3066\u306e\u6cbb\u7642\u304c\u5287\u7684\u306a\u52b9\u679c\u3092\u3082\u305f\u3089\u3059\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u305d\u308c\u3067\u3082\u300c\u5c11\u3057\u3067\u3082\u524d\u306b\u9032\u3081\u308b\u300d\u300c\u751f\u6d3b\u306e\u3057\u3084\u3059\u3055\u304c\u9ad8\u307e\u308b\u300d\u3053\u3068\u306f\u3001\u3054\u5bb6\u65cf\u306b\u3068\u3063\u3066\u5927\u304d\u306a\u610f\u5473\u3092\u6301\u3064\u5909\u5316\u3060\u3068\u8a00\u3048\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%82%92%E8%AA%BF%E3%81%B9%E3%82%8B%E6%A4%9C%E6%9F%BB%E3%81%AB%E3%81%AF%E3%80%81%E3%81%A9%E3%82%93%E3%81%AA%E7%A8%AE%E9%A1%9E%E3%81%8C%E3%81%82%E3%82%8B%E3%81%AE%E3%81%A7%E3%81%97%E3%82%87%E3%81%86%E3%81%8B\"><\/span>\u539f\u56e0\u3092\u8abf\u3079\u308b\u691c\u67fb\u306b\u306f\u3001\u3069\u3093\u306a\u7a2e\u985e\u304c\u3042\u308b\u306e\u3067\u3057\u3087\u3046\u304b<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u6cbb\u7642\u3067\u304d\u308b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3092\u898b\u3064\u3051\u308b\u305f\u3081\u306b\u3001\u907a\u4f1d\u5b50\u691c\u67fb\u306f\u6b20\u304b\u305b\u306a\u3044\u624b\u6bb5\u306b\u306a\u3063\u3066\u3044\u307e\u3059\u3002\u7279\u306b\u539f\u56e0\u306e\u306f\u3063\u304d\u308a\u3057\u306a\u3044ID\u3084\u767a\u9054\u306e\u9045\u308c\u306b\u5bfe\u3057\u3066\u306f\u3001\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\uff08\u907a\u4f1d\u5b50\u306e\u91cd\u8981\u90e8\u5206\u3092\u8abf\u3079\u308b\u691c\u67fb\uff09\u3092\u884c\u3046\u3053\u3068\u3067\u3001<strong>30\uff5e40%\u306e\u65b9\u3067\u539f\u56e0\u3068\u306a\u308b\u907a\u4f1d\u7684\u5909\u7570<\/strong>\u304c\u898b\u3064\u304b\u308b\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u67d3\u8272\u4f53<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u691c\u67fb\uff08\u67d3\u8272\u4f53\u306e\u5fae\u7d30\u306a\u6b20\u5931\u30fb\u91cd\u8907\u3092\u8abf\u3079\u308b\u691c\u67fb\uff09\u3067\u306f\u7d0415\uff5e20%\u3001\u8106\u5f31X\u75c7\u5019\u7fa4\u306e\u8a3a\u65ad\u306b\u4f7f\u3046FMR1\u907a\u4f1d\u5b50\u306e\u691c\u67fb\u3067\u306f1\uff5e2%\u306e\u8a3a\u65ad\u7387\u304c\u3042\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u6570\u5b57\u306f\u3042\u304f\u307e\u3067\u76ee\u5b89\u3067\u3042\u308a\u3001\u75be\u60a3\u7fa4\u3084\u5bfe\u8c61\u96c6\u56e3\u306b\u3088\u3063\u3066\u5e45\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u305f\u3060\u3057\u3001\u691c\u67fb\u3060\u3051\u3067\u3059\u3079\u3066\u304c\u89e3\u6c7a\u3059\u308b\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u591a\u304f\u306e\u5148\u5929\u6027\u4ee3\u8b1d\u7570\u5e38\u75c7\u306f\u3001\u6700\u521d\u306e\u75c7\u72b6\u304c\u300c\u3053\u3068\u3070\u306e\u9045\u308c\u300d\u3084\u300c\u843d\u3061\u7740\u304d\u306e\u306a\u3055\u300d\u3068\u3044\u3063\u305f\u66d6\u6627\u306a\u5f62\u3067\u73fe\u308c\u3001\u3057\u3070\u3089\u304f\u306e\u9593\u306f\u8a3a\u65ad\u306b\u3064\u306a\u304c\u3089\u306a\u3044\u3053\u3068\u3082\u73cd\u3057\u304f\u3042\u308a\u307e\u305b\u3093\u3002\u3054\u5bb6\u65cf\u304c\u611f\u3058\u308b\u3061\u3087\u3063\u3068\u3057\u305f\u9055\u548c\u611f\u304c\u3001\u5c02\u9580\u7684\u306a\u691c\u67fb\u306b\u3064\u306a\u304c\u308b\u91cd\u8981\u306a\u624b\u304c\u304b\u308a\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u79c1\u305f\u3061\u306e\u5916\u6765\u3067\u3082\u3001\u300c\u767a\u9054\u304c\u3086\u3063\u304f\u308a\u306a\u306e\u306f\u3001\u751f\u307e\u308c\u3064\u304d\u306e\u4f53\u8cea\u3060\u3068\u601d\u3063\u3066\u3044\u305f\u300d\u3068\u3044\u3046\u4fdd\u8b77\u8005\u306e\u65b9\u304b\u3089\u3001\u691c\u67fb\u3067\u521d\u3081\u3066\u539f\u56e0\u304c\u308f\u304b\u3063\u305f\u3068\u3044\u3046\u304a\u8a71\u3092\u4f3a\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u6b21\u306b\u3067\u304d\u308b\u5bfe\u5fdc\u3092\u8003\u3048\u308b\u305f\u3081\u306e\u51fa\u767a\u70b9\u3001\u305d\u308c\u304c\u539f\u56e0\u3092\u77e5\u308b\u3053\u3068\u306e\u610f\u5473\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%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%E3%82%8F%E3%81%8B%E3%82%8B%E3%81%93%E3%81%A8%E3%80%81%E3%82%8F%E3%81%8B%E3%82%89%E3%81%AA%E3%81%84%E3%81%93%E3%81%A8\"><\/span>\u65b0\u751f\u5150\u30de\u30b9\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3067\u308f\u304b\u308b\u3053\u3068\u3001\u308f\u304b\u3089\u306a\u3044\u3053\u3068<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u65b0\u751f\u5150\u30de\u30b9\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\uff08\u5148\u5929\u6027\u4ee3\u8b1d\u7570\u5e38\u7b49\u691c\u67fb\uff09\u306f\u3001\u751f\u5f8c4\u301c7\u65e5\u3054\u308d\u306b\u8db3\u306e\u88cf\u304b\u3089\u63a1\u3063\u305f\u5c11\u91cf\u306e\u8840\u6db2\u3067\u884c\u3046\u691c\u67fb\u3067\u3001<strong>\u65e5\u672c\u3067\u751f\u307e\u308c\u305f\u3059\u3079\u3066\u306e\u8d64\u3061\u3083\u3093\u304c\u516c\u8cbb\u3067\u53d7\u3051\u3089\u308c\u307e\u3059<\/strong>\u3002\u30bf\u30f3\u30c7\u30e0\u30de\u30b9\u6cd5\u306e\u5c0e\u5165\u306b\u3088\u308a\u3001\u30d5\u30a7\u30cb\u30eb\u30b1\u30c8\u30f3\u5c3f\u75c7\u3092\u542b\u3080\u7d0420\u75be\u60a3\u304c\u5168\u56fd\u4e00\u5f8b\u306e\u5bfe\u8c61\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u3053\u3067\u62bc\u3055\u3048\u3066\u304a\u304d\u305f\u3044\u306e\u306f\u3001\u65b0\u751f\u5150\u30de\u30b9\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3067\u898b\u3064\u304b\u308b\u75c5\u6c17\u306f\u9650\u3089\u308c\u3066\u3044\u308b\u3068\u3044\u3046\u70b9\u3067\u3059\u3002\u6cbb\u7642\u53ef\u80fd\u306a\u5148\u5929\u6027\u4ee3\u8b1d\u7570\u5e38\u75c7\u306f116\u75be\u60a3\u3042\u308b\u4e00\u65b9\u3001\u5bfe\u8c61\u75be\u60a3\u306f\u305d\u306e\u4e00\u90e8\u306b\u3068\u3069\u307e\u308a\u307e\u3059\u3002\u5bfe\u8c61\u5916\u306e\u75c5\u6c17\u306f\u3001\u767a\u9054\u306e\u69d8\u5b50\u3092\u898b\u306a\u304c\u3089\u500b\u5225\u306b\u691c\u67fb\u3092\u691c\u8a0e\u3059\u308b\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u72b6\u6cc1\u3092\u5909\u3048\u3088\u3046\u3068\u3001\u60a3\u8005\u5bb6\u65cf\u4f1a\u304c\u5bfe\u8c61\u75be\u60a3\u306e\u62e1\u5927\u3092\u8a34\u3048\u308b\u6d3b\u52d5\u3092\u7d9a\u3051\u3066\u3044\u307e\u3059\u3002\u9175\u7d20\u88dc\u5145\u7642\u6cd5\u3068\u3044\u3046\u6cbb\u7642\u6cd5\u304c\u3042\u308b<a href=\"https:\/\/www.shouman.jp\/disease\/details\/08_06_076\/\" target=\"_blank\" rel=\"noopener\">\u30e0\u30b3\u591a\u7cd6\u75c7II\u578b\uff08\u30cf\u30f3\u30bf\u30fc\u75c7\u5019\u7fa4\uff09<\/a>\u306b\u3064\u3044\u3066\u3001\u60a3\u8005\u5bb6\u65cf\u4f1a\u300c\u30e0\u30b3\u30cd\u30c3\u30c8Twinkle Days\u300d\u306e\u516c\u5f0f\u30a2\u30ab\u30a6\u30f3\u30c8\u306f\u300c\u9032\u884c\u3057\u3066\u3057\u307e\u3046\u3068\u5f8c\u623b\u308a\u304c\u3067\u304d\u306a\u3044\u3002\u3067\u3059\u304b\u3089\u4e00\u65e5\u3082\u65e9\u304f\u898b\u3064\u3051\u3066\u307b\u3057\u3044\u300d\u3068\u3001\u65b0\u751f\u5150\u30de\u30b9\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3067\u306e\u767a\u898b\u3092\u547c\u3073\u304b\u3051\u3066\u3044\u307e\u3059\uff08<a href=\"https:\/\/x.com\/Twinkle_nakai\/status\/2078299174903431411\" target=\"_blank\" rel=\"noopener\">@Twinkle_nakai<\/a>\uff09\u3002<\/p>\n\n\n\n<p>\u6cbb\u7642\u306b\u3064\u306a\u304c\u308b\u53ef\u80fd\u6027\u306e\u3042\u308b\u75c5\u6c17\u3092\u4e00\u65e5\u3067\u3082\u65e9\u304f\u898b\u3064\u3051\u305f\u3044\u3002\u3053\u306e\u9858\u3044\u306f\u3001\u533b\u7642\u73fe\u5834\u3067\u3082\u5171\u901a\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u518d\u691c\u67fb\u3068\u3044\u3046\u901a\u77e5\u3092\u53d7\u3051\u53d6\u308b\u3068\u3001\u591a\u304f\u306e\u3054\u5bb6\u65cf\u304c\u5f37\u3044\u4e0d\u5b89\u3092\u611f\u3058\u307e\u3059\u3002\u5b9f\u969b\u306bSNS\u4e0a\u3067\u3082\u300c\u65b0\u751f\u5150\u30de\u30b9\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u691c\u67fb\u304c\u518d\u691c\u67fb\u306b\u306a\u308a\u30011\u304b\u6708\u5065\u8a3a\u3067\u7d50\u679c\u3092\u6e21\u3055\u308c\u305f\u3002\u6b63\u5e38\u3060\u3063\u305f\u306e\u3067\u4e00\u5b89\u5fc3\u300d\u3068\u3044\u3046\u58f0\u304c\u898b\u3089\u308c\u307e\u3057\u305f\uff08<a href=\"https:\/\/x.com\/riiniconico\/status\/2077565115076067702\" target=\"_blank\" rel=\"noopener\">@riiniconico<\/a>\uff09\u3002\u518d\u691c\u67fb\u306e\u591a\u304f\u306f\u7570\u5e38\u306a\u3057\u3067\u7d42\u308f\u308a\u307e\u3059\u304c\u3001\u4e07\u304c\u4e00\u306e\u969b\u306b\u65e9\u304f\u52d5\u3051\u308b\u3053\u3068\u3053\u305d\u304c\u30de\u30b9\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u306e\u610f\u7fa9\u3060\u3068\u8a00\u3048\u308b\u3067\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%97%85%E6%85%8B%E3%81%AB%E5%9F%BA%E3%81%A5%E3%81%8F%E6%96%B0%E3%81%97%E3%81%84%E6%B2%BB%E7%99%82%E6%B3%95_%E2%80%95_4%E3%81%A4%E3%81%AE%E5%AE%9F%E4%BE%8B\"><\/span>\u75c5\u614b\u306b\u57fa\u3065\u304f\u65b0\u3057\u3044\u6cbb\u7642\u6cd5 \u2015 4\u3064\u306e\u5b9f\u4f8b<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u8fd1\u5e74\u306f\u3001\u4ee3\u8b1d\u7570\u5e38\u3084\u907a\u4f1d\u5b50\u5909\u5316\u305d\u306e\u3082\u306e\u3060\u3051\u3067\u306a\u304f\u3001\u300c\u7d30\u80de\u306e\u4e2d\u3067\u3069\u306e\u3088\u3046\u306a\u7570\u5e38\u304c\u8d77\u304d\u3066\u3044\u308b\u306e\u304b\u300d\u3068\u3044\u3046\u75c5\u614b\uff08\u30e1\u30ab\u30cb\u30ba\u30e0\uff09\u306b\u57fa\u3065\u3044\u305f\u6cbb\u7642\u306e\u7814\u7a76\u304c\u9032\u3093\u3067\u3044\u307e\u3059\u3002\u3053\u308c\u307e\u3067\u300c\u6cbb\u3089\u306a\u3044\u300d\u3068\u3055\u308c\u3066\u304d\u305f\u75be\u60a3\u306b\u3082\u3001\u65b0\u3057\u3044\u5207\u308a\u53e3\u3067\u6cbb\u7642\u3092\u8003\u3048\u308b\u52d5\u304d\u304c\u51fa\u3066\u304d\u307e\u3057\u305f\u3002\u4ee3\u8868\u7684\u306a4\u3064\u306e\u75be\u60a3\u3092\u6574\u7406\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<figure class=\"wp-block-table\"><table>\n<thead>\n<tr><th>\u75be\u60a3\u540d<\/th><th>\u4e3b\u306a\u539f\u56e0<\/th><th>\u6cbb\u7642\u30a2\u30d7\u30ed\u30fc\u30c1<\/th><th>\u73fe\u5728\u306e\u6bb5\u968e<\/th><\/tr>\n<\/thead>\n<tbody>\n<tr><td>\u30d5\u30a7\u30cb\u30eb\u30b1\u30c8\u30f3\u5c3f\u75c7\uff08PKU\uff09<\/td><td>\u30d5\u30a7\u30cb\u30eb\u30a2\u30e9\u30cb\u30f3\u6c34\u9178\u5316\u9175\u7d20\u306e\u50cd\u304d\u306e\u4f4e\u4e0b<\/td><td>\u751f\u5f8c\u65e9\u671f\u304b\u3089\u306e\u98df\u4e8b\u7642\u6cd5\uff08\u30a2\u30df\u30ce\u9178\u5236\u9650\uff09<\/td><td>\u78ba\u7acb\u3055\u308c\u305f\u6a19\u6e96\u6cbb\u7642<\/td><\/tr>\n<tr><td>Arboleda-Tham\u75c7\u5019\u7fa4<\/td><td>KAT6A\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308b\u30d2\u30b9\u30c8\u30f3\u4fee\u98fe\u306e\u7570\u5e38<\/td><td>\u30d1\u30f3\u30c8\u30c6\u30f3\u9178\u30fbL-\u30ab\u30eb\u30cb\u30c1\u30f3\u306a\u3069\u88dc\u52a9\u56e0\u5b50\u306e\u7814\u7a76<\/td><td>\u5b9f\u9a13\u5ba4\u30ec\u30d9\u30eb\u306e\u57fa\u790e\u7814\u7a76<\/td><\/tr>\n<tr><td>\u30cf\u30f3\u30bf\u30fc\u75c7\u5019\u7fa4\uff08\u30e0\u30b3\u591a\u7cd6\u75c7II\u578b\uff09<\/td><td>\u9175\u7d20\uff08\u30a4\u30ba\u30ed\u30f3\u9178-2-\u30b9\u30eb\u30d5\u30a1\u30bf\u30fc\u30bc\uff09\u306e\u6b20\u640d<\/td><td>\u9175\u7d20\u88dc\u5145\u7642\u6cd5\u3002\u9ac4\u8154\u5185\u6295\u4e0e\u3084\u907a\u4f1d\u5b50\u6cbb\u7642\u306f\u7814\u7a76\u6bb5\u968e<\/td><td>\u4e00\u90e8\u627f\u8a8d\u30fb\u4e00\u90e8\u81e8\u5e8a\u8a66\u9a13\u4e2d<\/td><\/tr>\n<tr><td>\u8106\u5f31X\u75c7\u5019\u7fa4<\/td><td>FMR1\u907a\u4f1d\u5b50\u306e\u6a5f\u80fd\u55aa\u5931\u306b\u3088\u308b\u30b7\u30ca\u30d7\u30b9\u8abf\u7bc0\u7570\u5e38<\/td><td>mGluR5\u62ee\u6297\u85ac\u3084GABA\u4f5c\u52d5\u85ac\u306a\u3069\u306e\u7814\u7a76\u3001\u751f\u6d3b\u30fb\u884c\u52d5\u9762\u306e\u652f\u63f4<\/td><td>\u7814\u7a76\u6bb5\u968e\uff08\u627f\u8a8d\u85ac\u306f\u9650\u5b9a\u7684\uff09<\/td><\/tr>\n<\/tbody>\n<\/table><\/figure>\n\n\n\n<p><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4612\" target=\"_blank\" rel=\"noopener\">\u8106\u5f31X\u75c7\u5019\u7fa4<\/a>\u306f\u3001FMR1\u3068\u3044\u3046\u907a\u4f1d\u5b50\u304c\u50cd\u304b\u306a\u304f\u306a\u308b\u3053\u3068\u3067\u795e\u7d4c\u7d30\u80de\u306e\u3064\u306a\u304e\u76ee\uff08\u30b7\u30ca\u30d7\u30b9\uff09\u306e\u8abf\u7bc0\u304c\u904e\u5270\u306b\u306a\u308a\u3001\u767a\u9054\u3084\u884c\u52d5\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u75be\u60a3\u3067\u3059\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/mucopolysaccharidosis-type-ii-hunter-syndrome-x-linked\/\" target=\"_blank\" rel=\"noopener\">\u30cf\u30f3\u30bf\u30fc\u75c7\u5019\u7fa4<\/a>\u306e\u3088\u3046\u306b\u3001\u65e2\u306b\u9175\u7d20\u88dc\u5145\u7642\u6cd5\u304c\u4fdd\u967a\u627f\u8a8d\u3055\u308c\u3066\u3044\u308b\u75be\u60a3\u3082\u3042\u308c\u3070\u3001\u307e\u3060\u81e8\u5e8a\u8a66\u9a13\u6bb5\u968e\u306e\u75be\u60a3\u3082\u3042\u308a\u307e\u3059\u3002\u3044\u305a\u308c\u3082\u5171\u901a\u3059\u308b\u306e\u306f\u3001\u300c\u7570\u5e38\u304c\u3069\u3053\u3067\u3069\u3046\u8d77\u304d\u3066\u3044\u308b\u304b\u300d\u3092\u7406\u89e3\u3057\u305f\u3046\u3048\u3067\u3001\u305d\u306e\u4ed5\u7d44\u307f\u306b\u76f4\u63a5\u50cd\u304d\u304b\u3051\u3088\u3046\u3068\u3059\u308b\u30a2\u30d7\u30ed\u30fc\u30c1\u3067\u3059\u3002<\/p>\n\n\n\n<div style=\"text-align:center; margin: 2rem 0;\">\n<a href=\"https:\/\/mypage-nipt-reservation.hiro-clinic.or.jp\/registration\" style=\"display:inline-block; background-color:#2a79b8; color:#fff; padding:0.9rem 2.2rem; border-radius:999px; text-decoration:none; font-weight:bold;\" target=\"_blank\" rel=\"noopener\">NIPT\u306e\u4e88\u7d04\u306f\u3053\u3061\u3089<\/a>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%B2%BB%E7%99%82%E3%81%AB%E3%81%9F%E3%81%A9%E3%82%8A%E7%9D%80%E3%81%8F%E3%81%BE%E3%81%A7%E3%81%AE%E8%AA%B2%E9%A1%8C_%E2%80%95_%E3%82%A8%E3%83%93%E3%83%87%E3%83%B3%E3%82%B9%E3%81%AE%E8%B3%AA%E3%81%A8%E3%82%A2%E3%82%AF%E3%82%BB%E3%82%B9%E3%81%AE%E6%A0%BC%E5%B7%AE\"><\/span>\u6cbb\u7642\u306b\u305f\u3069\u308a\u7740\u304f\u307e\u3067\u306e\u8ab2\u984c \u2015 \u30a8\u30d3\u30c7\u30f3\u30b9\u306e\u8cea\u3068\u30a2\u30af\u30bb\u30b9\u306e\u683c\u5dee<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u6cbb\u7642\u306e\u53ef\u80fd\u6027\u304c\u5e83\u304c\u308b\u4e00\u65b9\u3067\u3001\u4eca\u3082\u91cd\u8981\u306a\u8ab2\u984c\u304c\u6b8b\u3063\u3066\u3044\u307e\u3059\u3002\u6cbb\u7642\u52b9\u679c\u3092\u88cf\u3065\u3051\u308b\u8a3c\u62e0\u306e\u8cea\u3068\u3001\u691c\u67fb\u30fb\u6cbb\u7642\u3078\u306e\u30a2\u30af\u30bb\u30b9\u306e\u516c\u5e73\u6027\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u73fe\u6642\u70b9\u3067\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u6cbb\u7642\u306e\u591a\u304f\u306f\u3001\u75c7\u4f8b\u5831\u544a\u3084\u5c0f\u898f\u6a21\u7814\u7a76\u306b\u3068\u3069\u307e\u308a\u307e\u3059\u3002\u5927\u898f\u6a21\u306a\u7121\u4f5c\u70ba\u5316\u6bd4\u8f03\u8a66\u9a13\u306f\u9650\u3089\u308c\u3066\u304a\u308a\u3001\u6cbb\u7642\u52b9\u679c\u3092\u6e2c\u308b\u6a19\u6e96\u7684\u306a\u6307\u6a19\u3082\u5341\u5206\u306b\u6574\u3063\u3066\u3044\u306a\u3044\u306e\u304c\u73fe\u72b6\u3067\u3059\u3002\u539a\u751f\u52b4\u50cd\u7701\u304c\u516c\u8868\u3059\u308b<a href=\"https:\/\/www.mhlw.go.jp\/stf\/newpage_53881.html\" target=\"_blank\" rel=\"noopener\">\u6307\u5b9a\u96e3\u75c5\u306e\u4e00\u89a7<\/a>\u3092\u898b\u3066\u3082\u3001\u5bfe\u8c61\u3068\u306a\u308b\u75be\u60a3\u3054\u3068\u306b\u7814\u7a76\u306e\u84c4\u7a4d\u306b\u306f\u5dee\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u533b\u7642\u306e\u73fe\u5834\u3067\u306f\u3001\u56fd\u3084\u5730\u57df\u306b\u3088\u3063\u3066\u691c\u67fb\u30fb\u6cbb\u7642\u3078\u306e\u30a2\u30af\u30bb\u30b9\u306b\u5dee\u304c\u3042\u308b\u3053\u3068\u3082\u6307\u6458\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u306e\u3088\u3046\u306a\u5148\u9032\u7684\u306a\u907a\u4f1d\u5b50\u691c\u67fb\u306f\u3001\u4fdd\u967a\u5236\u5ea6\u3084\u65bd\u8a2d\u306e\u8a2d\u5099\u306b\u3088\u3063\u3066\u306f\u53d7\u3051\u3089\u308c\u306a\u3044\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002\u4fdd\u967a\u9069\u7528\u306e\u6761\u4ef6\u3084\u3001\u691c\u67fb\u3092\u4f9d\u983c\u3067\u304d\u308b\u5c02\u9580\u6a5f\u95a2\u306e\u5c11\u306a\u3055\u304c\u3001\u8a3a\u65ad\u306e\u9045\u308c\u306b\u3064\u306a\u304c\u308b\u3053\u3068\u3082\u3042\u308b\u306e\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3055\u3089\u306b\u3001\u691c\u67fb\u3067\u898b\u3064\u304b\u3063\u305f\u907a\u4f1d\u5b50\u306e\u5909\u5316\u306e\u4e2d\u306b\u306f\u300c\u610f\u7fa9\u4e0d\u660e\u306e\u5909\u7570\uff08VUS\uff09\u300d\u304c\u542b\u307e\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u3069\u3046\u89e3\u91c8\u3059\u308b\u304b\u306f\u533b\u5e2b\u3084\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u306e\u5224\u65ad\u306b\u59d4\u306d\u3089\u308c\u307e\u3059\u304c\u3001\u77e5\u898b\u306e\u66f4\u65b0\u306b\u3088\u3063\u3066\u6570\u5e74\u5f8c\u306b\u300c\u539f\u56e0\u3060\u3063\u305f\u300d\u3068\u308f\u304b\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u4e00\u5ea6\u300c\u7570\u5e38\u306a\u3057\u300d\u3068\u3055\u308c\u305f\u7d50\u679c\u3082\u3001\u6642\u9593\u3092\u304a\u3044\u305f\u518d\u8a55\u4fa1\u304c\u610f\u5473\u3092\u6301\u3064\u5834\u5408\u304c\u3042\u308b\u306e\u3067\u3059\u3002<\/p>\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%93%E3%81%A8%E3%80%81%E5%87%BA%E7%94%9F%E5%BE%8C%E3%81%AE%E9%81%BA%E4%BC%9D%E5%AD%A6%E7%9A%84%E6%A4%9C%E6%9F%BB%E3%81%A7%E3%82%8F%E3%81%8B%E3%82%8B%E3%81%93%E3%81%A8\"><\/span>NIPT\u3067\u308f\u304b\u308b\u3053\u3068\u3001\u51fa\u751f\u5f8c\u306e\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u3067\u308f\u304b\u308b\u3053\u3068<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>\uff08\u65b0\u578b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\uff09\u3068\u3001\u3053\u3053\u307e\u3067\u7d39\u4ecb\u3057\u3066\u304d\u305f\u51fa\u751f\u5f8c\u306e\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u306f\u3001\u76ee\u7684\u3082\u8abf\u3079\u308b\u7bc4\u56f2\u3082\u7570\u306a\u308a\u307e\u3059\u3002\u6df7\u540c\u3059\u308b\u3068\u8aa4\u89e3\u306b\u3064\u306a\u304c\u308b\u305f\u3081\u3001\u9055\u3044\u3092\u6574\u7406\u3057\u3066\u304a\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/principles-of-nipt\/\" target=\"_blank\" rel=\"noopener\">NIPT<\/a>\u306f\u598a\u5a20\u4e2d\u306b\u63a1\u8840\u3067\u884c\u3046\u975e\u78ba\u5b9a\u7684\u306a\u691c\u67fb\u3067\u300113\u30fb18\u30fb21\u30c8\u30ea\u30bd\u30df\u30fc\u306a\u3069\u306e\u67d3\u8272\u4f53\u6570\u306e\u5909\u5316\u3092\u4e3b\u306a\u5bfe\u8c61\u3068\u3057\u307e\u3059\u3002\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30afNIPT\u3067\u306f\u691c\u67fb\u9805\u76ee\u3092\u5e83\u3052\u305f\u30d7\u30e9\u30f3\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u3044\u305a\u308c\u3082<strong>\u5bfe\u8c61\u3068\u306a\u308b\u67d3\u8272\u4f53\u30fb\u907a\u4f1d\u5b50\u9818\u57df\u306f\u3042\u3089\u304b\u3058\u3081\u6c7a\u307e\u3063\u3066\u3044\u307e\u3059<\/strong>\u3002\u539f\u56e0\u4e0d\u660e\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3092\u5e45\u5e83\u304f\u8abf\u3079\u308b\u76ee\u7684\u306e\u691c\u67fb\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u4e00\u65b9\u3001\u3053\u306e\u8a18\u4e8b\u3067\u7d39\u4ecb\u3057\u305f\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u3084\u67d3\u8272\u4f53<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u691c\u67fb\u306f\u3001\u51fa\u751f\u5f8c\u306b\u304a\u5b50\u3055\u3093\u306e\u767a\u9054\u306e\u69d8\u5b50\u3092\u898b\u306a\u304c\u3089\u3001\u5c0f\u5150\u79d1\u533b\u3084\u81e8\u5e8a\u907a\u4f1d\u5c02\u9580\u533b\u304c\u5fc5\u8981\u3068\u5224\u65ad\u3057\u305f\u5834\u5408\u306b\u884c\u3046\u691c\u67fb\u3067\u3059\u3002\u5bfe\u8c61\u3068\u306a\u308b\u907a\u4f1d\u5b50\u306e\u7bc4\u56f2\u304cNIPT\u3088\u308a\u306f\u308b\u304b\u306b\u5e83\u304f\u3001\u6cbb\u7642\u306b\u3064\u306a\u304c\u308b\u539f\u56e0\u3092\u63a2\u3059\u3053\u3068\u3092\u76ee\u7684\u3068\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>NIPT\u3067\u8abf\u3079\u308b\u7bc4\u56f2\u3092\u8d85\u3048\u305f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u306e\u539f\u56e0\u306b\u3064\u3044\u3066\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-beyond-down-syndrome-intellectual-disability\/\" target=\"_blank\" rel=\"noopener\">NIPT\u3067\u308f\u304b\u308b\u75be\u60a3\u306e\u9650\u754c\u3092\u6574\u7406\u3057\u305f\u8a18\u4e8b<\/a>\u3067\u3082\u8a73\u3057\u304f\u89e3\u8aac\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>NIPT\u3067\u967d\u6027\u3068\u306a\u3063\u305f\u5834\u5408\u3084\u3001\u51fa\u751f\u5f8c\u306b\u767a\u9054\u306e\u9045\u308c\u306b\u6c17\u3065\u3044\u305f\u5834\u5408\u306e\u7642\u80b2\u30fb\u652f\u63f4\u306b\u3064\u3044\u3066\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-early-intervention-brain-science-hope\/\" target=\"_blank\" rel=\"noopener\">\u65e9\u671f\u7642\u80b2\u306b\u95a2\u3059\u308b\u8a18\u4e8b<\/a>\u3082\u3042\u308f\u305b\u3066\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%9F%A5%E7%9A%84%E9%9A%9C%E5%AE%B3%E3%82%92%E3%80%8C%E4%BB%8B%E5%85%A5%E5%8F%AF%E8%83%BD%E3%81%AA%E7%8A%B6%E6%85%8B%E3%80%8D%E3%81%A8%E3%81%97%E3%81%A6%E6%8D%89%E3%81%88%E7%9B%B4%E3%81%99\"><\/span>\u77e5\u7684\u969c\u5bb3\u3092\u300c\u4ecb\u5165\u53ef\u80fd\u306a\u72b6\u614b\u300d\u3068\u3057\u3066\u6349\u3048\u76f4\u3059<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u3053\u3046\u3057\u305f\u7814\u7a76\u3084\u81e8\u5e8a\u306e\u7a4d\u307f\u91cd\u306d\u304b\u3089\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3068\u3044\u3046\u72b6\u614b\u305d\u306e\u3082\u306e\u3092\u898b\u76f4\u3059\u52d5\u304d\u304c\u59cb\u307e\u3063\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u307e\u3067\u300c\u4e00\u751f\u5909\u308f\u3089\u306a\u3044\u3082\u306e\u300d\u3068\u3055\u308c\u308b\u3053\u3068\u304c\u591a\u304b\u3063\u305f\u72b6\u614b\u306e\u4e00\u90e8\u3002\u305d\u308c\u304c\u3001\u9069\u5207\u306a\u6642\u671f\u306b\u9069\u5207\u306a\u6cbb\u7642\u3084\u652f\u63f4\u3092\u53d7\u3051\u308b\u3053\u3068\u3067\u6539\u5584\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u72b6\u614b\u3068\u3057\u3066\u3001\u8a8d\u8b58\u3055\u308c\u3064\u3064\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u8ee2\u63db\u306b\u306f\u3001\u3044\u304f\u3064\u304b\u306e\u8981\u7d20\u304c\u95a2\u308f\u3063\u3066\u3044\u307e\u3059\u3002\u307e\u305a\u5927\u5207\u306a\u306e\u306f\u3001\u3067\u304d\u308b\u3060\u3051\u65e9\u304f\u8a3a\u65ad\u3055\u308c\u308b\u3053\u3068\u3067\u3059\u3002\u8133\u306e\u767a\u9054\u306f\u4e73\u5e7c\u5150\u671f\u306b\u5927\u304d\u304f\u5909\u5316\u3059\u308b\u305f\u3081\u3001\u3053\u306e\u6642\u671f\u306e\u6cbb\u7642\u958b\u59cb\u304c\u3001\u5f8c\u306e\u5b66\u7fd2\u3084\u751f\u6d3b\u3078\u306e\u5f71\u97ff\u3092\u6291\u3048\u308b\u3053\u3068\u306b\u3064\u306a\u304c\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u591a\u304f\u306eID\u306f\u5358\u4e00\u306e\u907a\u4f1d\u5b50\u5909\u7570\u306b\u3088\u308b\u75be\u60a3\u3067\u3042\u308b\u305f\u3081\u3001\u305d\u308c\u305e\u308c\u306e\u75c5\u614b\u306b\u5fdc\u3058\u305f\u7cbe\u5bc6\u533b\u7642\u304c\u53ef\u80fd\u3067\u3059\u3002\u75be\u60a3\u306e\u7a2e\u985e\u304c\u7570\u306a\u3063\u3066\u3044\u3066\u3082\u3001\u7d30\u80de\u5185\u306e\u5171\u901a\u7d4c\u8def\uff08mTOR\u3084PI3K-Akt\u306a\u3069\uff09\u304c\u95a2\u308f\u308b\u30b1\u30fc\u30b9\u304c\u3042\u308a\u3001\u5171\u901a\u7d4c\u8def\u3092\u6a19\u7684\u3068\u3059\u308b\u6cbb\u7642\u3082\u671f\u5f85\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u65e2\u5b58\u85ac\u3092\u5225\u306e\u76ee\u7684\u3067\u4f7f\u3046\u300c\u30c9\u30e9\u30c3\u30b0\u30ea\u30dd\u30b8\u30b7\u30e7\u30cb\u30f3\u30b0\u300d\u3082\u6ce8\u76ee\u3055\u308c\u308b\u624b\u6cd5\u306e\u3072\u3068\u3064\u3067\u3059\u3002\u7cd6\u5c3f\u75c5\u6cbb\u7642\u85ac\u30e1\u30c8\u30db\u30eb\u30df\u30f3\u3084\u3001\u4e00\u90e8\u306e\u6297\u3066\u3093\u304b\u3093\u85ac\u304c\u3001\u7279\u5b9a\u306eID\u306e\u75c5\u614b\u306b\u6709\u52b9\u3067\u3042\u308b\u53ef\u80fd\u6027\u304c\u7814\u7a76\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u306e\u3042\u308b\u304a\u5b50\u3055\u3093\u306e\u5c06\u6765\u306f\u3001\u8a3a\u65ad\u540d\u3060\u3051\u3067\u6c7a\u307e\u308b\u3082\u306e\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u539f\u56e0\u3092\u77e5\u308a\u3001\u4f7f\u3048\u308b\u9078\u629e\u80a2\u3092\u4e00\u3064\u305a\u3064\u7a4d\u307f\u91cd\u306d\u3066\u3044\u304f\u3053\u3068\u304c\u3001\u3054\u672c\u4eba\u3068\u3054\u5bb6\u65cf\u306b\u3068\u3063\u3066\u306e\u73fe\u5b9f\u7684\u306a\u4e00\u6b69\u306b\u306a\u308a\u307e\u3059\u3002\u5c31\u52b4\u3084\u81ea\u7acb\u307e\u3067\u898b\u636e\u3048\u305f\u9577\u671f\u7684\u306a\u652f\u63f4\u306b\u3064\u3044\u3066\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-intellectual-disability-employment-independence\/\" target=\"_blank\" rel=\"noopener\">\u77e5\u7684\u969c\u5bb3\u306e\u3042\u308b\u65b9\u306e\u5c31\u52b4\u30fb\u81ea\u7acb\u306b\u95a2\u3059\u308b\u8a18\u4e8b<\/a>\u3082\u3054\u53c2\u8003\u306b\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\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<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u306e\u539f\u56e0\u691c\u67fb\u3084\u6cbb\u7642\u306b\u3064\u3044\u3066\u3001\u5916\u6765\u3067\u3088\u304f\u5bc4\u305b\u3089\u308c\u308b\u8cea\u554f\u3092\u307e\u3068\u3081\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q1_%E7%9F%A5%E7%9A%84%E9%9A%9C%E5%AE%B3%E3%81%AF%E6%9C%AC%E5%BD%93%E3%81%AB%E6%B2%BB%E7%99%82%E3%81%A7%E3%81%8D%E3%82%8B%E3%81%AE%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\"><\/span>Q1. \u77e5\u7684\u969c\u5bb3\u306f\u672c\u5f53\u306b\u6cbb\u7642\u3067\u304d\u308b\u306e\u3067\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n<p>\u3059\u3079\u3066\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u304c\u6cbb\u7642\u3067\u304d\u308b\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u305f\u3060\u3057\u3001\u5148\u5929\u6027\u4ee3\u8b1d\u7570\u5e38\u75c7\u3084\u4e00\u90e8\u306e\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u306e\u3088\u3046\u306b\u3001\u539f\u56e0\u3092\u7279\u5b9a\u3067\u304d\u308c\u3070\u98df\u4e8b\u7642\u6cd5\u3084\u9175\u7d20\u88dc\u5145\u7642\u6cd5\u306a\u3069\u3067\u767a\u9054\u3078\u306e\u5f71\u97ff\u3092\u6291\u3048\u3089\u308c\u308b\u30b1\u30fc\u30b9\u304c116\u75be\u60a3\u307b\u3069\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u539f\u56e0\u304c\u4f55\u304b\u306b\u3088\u3063\u3066\u898b\u901a\u3057\u306f\u5927\u304d\u304f\u5909\u308f\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q2_%E3%81%A9%E3%82%93%E3%81%AA%E6%A4%9C%E6%9F%BB%E3%82%92%E5%8F%97%E3%81%91%E3%82%8C%E3%81%B0%E5%8E%9F%E5%9B%A0%E3%81%8C%E3%82%8F%E3%81%8B%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span>Q2. \u3069\u3093\u306a\u691c\u67fb\u3092\u53d7\u3051\u308c\u3070\u539f\u56e0\u304c\u308f\u304b\u308a\u307e\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n<p>\u4ee3\u8868\u7684\u306a\u691c\u67fb\u306f\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u3001\u67d3\u8272\u4f53<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u691c\u67fb\u3001FMR1\u907a\u4f1d\u5b50\u691c\u67fb\u3067\u3059\u3002\u305d\u308c\u305e\u308c\u8abf\u3079\u3089\u308c\u308b\u7bc4\u56f2\u3084\u8a3a\u65ad\u7387\u304c\u7570\u306a\u308b\u305f\u3081\u3001\u304a\u5b50\u3055\u3093\u306e\u75c7\u72b6\u3084\u767a\u9054\u306e\u7d4c\u904e\u306b\u5fdc\u3058\u3066\u3001\u5c0f\u5150\u79d1\u533b\u3084\u81e8\u5e8a\u907a\u4f1d\u5c02\u9580\u533b\u304c\u7d44\u307f\u5408\u308f\u305b\u3092\u5224\u65ad\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q3_%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%82%92%E5%8F%97%E3%81%91%E3%82%8C%E3%81%B0%E3%80%81%E6%B2%BB%E7%99%82%E3%81%A7%E3%81%8D%E3%82%8B%E7%97%85%E6%B0%97%E3%81%AF%E3%81%99%E3%81%B9%E3%81%A6%E3%82%8F%E3%81%8B%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span>Q3. \u65b0\u751f\u5150\u30de\u30b9\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3092\u53d7\u3051\u308c\u3070\u3001\u6cbb\u7642\u3067\u304d\u308b\u75c5\u6c17\u306f\u3059\u3079\u3066\u308f\u304b\u308a\u307e\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n<p>\u3044\u3044\u3048\u3001\u308f\u304b\u308a\u307e\u305b\u3093\u3002\u65b0\u751f\u5150\u30de\u30b9\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u306e\u5bfe\u8c61\u306f\u7d0420\u75be\u60a3\u3067\u3001\u6cbb\u7642\u3067\u304d\u308b\u5148\u5929\u6027\u4ee3\u8b1d\u7570\u5e38\u75c7116\u75be\u60a3\u306e\u3054\u304f\u4e00\u90e8\u3067\u3059\u3002\u5bfe\u8c61\u5916\u306e\u75c5\u6c17\u306f\u3001\u767a\u9054\u306e\u69d8\u5b50\u3092\u898b\u306a\u304c\u3089\u500b\u5225\u306b\u691c\u67fb\u3092\u691c\u8a0e\u3059\u308b\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q4_NIPT%EF%BC%88%E6%96%B0%E5%9E%8B%E5%87%BA%E7%94%9F%E5%89%8D%E8%A8%BA%E6%96%AD%EF%BC%89%E3%81%A7%E7%9F%A5%E7%9A%84%E9%9A%9C%E5%AE%B3%E3%81%AE%E5%8E%9F%E5%9B%A0%E3%81%BE%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>Q4. NIPT\uff08\u65b0\u578b\u51fa\u751f\u524d\u8a3a\u65ad\uff09\u3067\u77e5\u7684\u969c\u5bb3\u306e\u539f\u56e0\u307e\u3067\u308f\u304b\u308a\u307e\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n<p>NIPT\u306f13\u30fb18\u30fb21\u30c8\u30ea\u30bd\u30df\u30fc\u306a\u3069\u3001\u3042\u3089\u304b\u3058\u3081\u5b9a\u3081\u305f\u67d3\u8272\u4f53\u306e\u5909\u5316\u3092\u8abf\u3079\u308b\u975e\u78ba\u5b9a\u7684\u306a\u691c\u67fb\u3067\u3059\u3002\u3053\u306e\u8a18\u4e8b\u3067\u7d39\u4ecb\u3057\u305f\u3088\u3046\u306a\u5e45\u5e83\u3044\u907a\u4f1d\u5b50\u306e\u539f\u56e0\u3092\u8abf\u3079\u308b\u691c\u67fb\u3067\u306f\u306a\u3044\u305f\u3081\u3001\u539f\u56e0\u4e0d\u660e\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3092\u8abf\u3079\u308b\u76ee\u7684\u3067\u306f\u3001\u51fa\u751f\u5f8c\u306e\u5c02\u9580\u7684\u306a\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u304c\u5fc5\u8981\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q5_%E6%A4%9C%E6%9F%BB%E3%82%92%E3%81%97%E3%81%A6%E3%82%82%E5%8E%9F%E5%9B%A0%E3%81%8C%E8%A6%8B%E3%81%A4%E3%81%8B%E3%82%89%E3%81%AA%E3%81%8B%E3%81%A3%E3%81%9F%E5%A0%B4%E5%90%88%E3%81%AF%E3%81%A9%E3%81%86%E3%81%99%E3%82%8C%E3%81%B0%E3%81%84%E3%81%84%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\"><\/span>Q5. \u691c\u67fb\u3092\u3057\u3066\u3082\u539f\u56e0\u304c\u898b\u3064\u304b\u3089\u306a\u304b\u3063\u305f\u5834\u5408\u306f\u3069\u3046\u3059\u308c\u3070\u3044\u3044\u3067\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n<p>\u73fe\u6642\u70b9\u306e\u6280\u8853\u3067\u539f\u56e0\u304c\u7279\u5b9a\u3067\u304d\u306a\u3044\u3053\u3068\u306f\u73cd\u3057\u304f\u3042\u308a\u307e\u305b\u3093\u3002\u6570\u5e74\u5f8c\u306b\u65b0\u3057\u3044\u77e5\u898b\u304c\u52a0\u308f\u308a\u3001\u518d\u8a55\u4fa1\u3067\u539f\u56e0\u304c\u5224\u660e\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u539f\u56e0\u304c\u898b\u3064\u304b\u3089\u306a\u3044\u5834\u5408\u3082\u3001\u767a\u9054\u652f\u63f4\u3084\u7642\u80b2\u306a\u3069\u3001\u4eca\u3067\u304d\u308b\u95a2\u308f\u308a\u3092\u7d9a\u3051\u308b\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q6_%E3%80%8C%E6%84%8F%E7%BE%A9%E4%B8%8D%E6%98%8E%E3%81%AE%E5%A4%89%E7%95%B0%EF%BC%88VUS%EF%BC%89%E3%80%8D%E3%81%A8%E8%A8%80%E3%82%8F%E3%82%8C%E3%81%9F%E3%82%89%E3%80%81%E3%81%A9%E3%81%86%E5%8F%97%E3%81%91%E6%AD%A2%E3%82%81%E3%82%8C%E3%81%B0%E3%81%84%E3%81%84%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\"><\/span>Q6. \u300c\u610f\u7fa9\u4e0d\u660e\u306e\u5909\u7570\uff08VUS\uff09\u300d\u3068\u8a00\u308f\u308c\u305f\u3089\u3001\u3069\u3046\u53d7\u3051\u6b62\u3081\u308c\u3070\u3044\u3044\u3067\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n<p>VUS\u306f\u300c\u898b\u3064\u304b\u3063\u305f\u5909\u5316\u304c\u75c5\u6c17\u306e\u539f\u56e0\u304b\u3069\u3046\u304b\u3001\u307e\u3060\u308f\u304b\u3089\u306a\u3044\u300d\u3068\u3044\u3046\u610f\u5473\u3067\u3042\u308a\u3001\u7570\u5e38\u304c\u78ba\u5b9a\u3057\u305f\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u533b\u5e2b\u3084\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u3068\u76f8\u8ac7\u3057\u306a\u304c\u3089\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u6642\u9593\u3092\u304a\u3044\u305f\u518d\u8a55\u4fa1\u3092\u691c\u8a0e\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%BE%E3%81%A8%E3%82%81_%E2%80%95_%E6%A0%B9%E6%8B%A0%E3%81%AE%E3%81%82%E3%82%8B%E5%B8%8C%E6%9C%9B%E3%81%A8%E3%81%A8%E3%82%82%E3%81%AB\"><\/span>\u307e\u3068\u3081 \u2015 \u6839\u62e0\u306e\u3042\u308b\u5e0c\u671b\u3068\u3068\u3082\u306b<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3092\u53d6\u308a\u5dfb\u304f\u533b\u7642\u3068\u7814\u7a76\u306f\u3001\u4eca\u307e\u3055\u306b\u8ee2\u63db\u671f\u306b\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u307e\u3067\u300c\u6cbb\u3089\u306a\u3044\u300d\u3068\u3055\u308c\u3066\u304d\u305f\u72b6\u614b\u306e\u4e2d\u306b\u3082\u3001\u539f\u56e0\u3092\u7279\u5b9a\u3057\u3001\u9069\u5207\u306a\u6cbb\u7642\u306b\u3088\u3063\u3066\u6539\u5584\u306e\u53ef\u80fd\u6027\u304c\u3042\u308b\u30b1\u30fc\u30b9\u304c\u78ba\u304b\u306b\u5b58\u5728\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3059\u3079\u3066\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u304c\u5b8c\u5168\u306b\u56de\u5fa9\u3059\u308b\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u8a66\u9a13\u6bb5\u968e\u306e\u6cbb\u7642\u6cd5\u3084\u3001\u9650\u3089\u308c\u305f\u65bd\u8a2d\u3067\u3057\u304b\u53d7\u3051\u3089\u308c\u306a\u3044\u691c\u67fb\u3082\u3042\u308a\u307e\u3059\u3002\u3060\u304b\u3089\u3053\u305d\u3001\u904e\u5ea6\u306a\u671f\u5f85\u3092\u62b1\u304f\u306e\u3067\u306f\u306a\u304f\u3001\u9078\u629e\u80a2\u3092\u6b63\u3057\u304f\u77e5\u3063\u305f\u3046\u3048\u3067\u3001\u4e00\u3064\u3072\u3068\u3064\u3067\u304d\u308b\u3053\u3068\u3092\u7a4d\u307f\u91cd\u306d\u3066\u3044\u304f\u59ff\u52e2\u304c\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u79c1\u81ea\u8eab\u3001\u5916\u6765\u3067\u3054\u5bb6\u65cf\u304b\u3089\u300c\u6cbb\u7642\u3067\u304d\u308b\u304b\u3082\u3057\u308c\u306a\u3044\u3068\u77e5\u3063\u3066\u3001\u521d\u3081\u3066\u6b21\u306e\u4e00\u6b69\u3092\u8003\u3048\u3089\u308c\u305f\u300d\u3068\u3044\u3046\u8a00\u8449\u3092\u3044\u305f\u3060\u304f\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u79d1\u5b66\u304c\u5207\u308a\u958b\u304f\u53ef\u80fd\u6027\u306f\u3001\u5358\u306a\u308b\u671f\u5f85\u3067\u306f\u306a\u304f<strong>\u300c\u6839\u62e0\u306e\u3042\u308b\u5e0c\u671b\u300d<\/strong>\u3067\u3059\u3002\u539f\u56e0\u3092\u77e5\u308b\u3053\u3068\u304b\u3089\u3001\u3067\u304d\u308b\u3053\u3068\u3092\u4e00\u7dd2\u306b\u8003\u3048\u3066\u3044\u3051\u308c\u3070\u3068\u601d\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"text-align:center; margin: 2rem 0;\">\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/line-registration\/\" style=\"display:inline-block; background-color:#06c755; color:#fff; padding:0.9rem 2.2rem; border-radius:999px; text-decoration:none; font-weight:bold;\" target=\"_blank\" rel=\"noopener\">LINE\u3067\u7121\u6599\u76f8\u8ac7\u3059\u308b<\/a>\n<\/div>\n\n\n\n<div style=\"border: 1px solid #ddd; border-radius: 10px; padding: 1.5rem; margin: 2rem 0; background-color: #fafafa;\">\n<p style=\"margin:0 0 0.5rem; font-weight:bold; color:#2a79b8;\">\u76e3\u4fee\u8005<\/p>\n<p style=\"margin:0;\">\u5ca1 \u535a\u53f2\uff08\u304a\u304b \u3072\u308d\u3057\uff09\uff5c\u533b\u7642\u6cd5\u4eba\u793e\u56e3\u798f\u7f8e\u4f1a \u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u7d71\u62ec\u9662\u9577\uff0fLabo Director<\/p>\n<p style=\"margin:0.5rem 0 0;\">\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\u81e8\u5e8a\u7814\u4fee\u5f8c2\u5e74\u3067\u533b\u5b66\u535a\u58eb\u53f7\u3092\u53d6\u5f97\u3002\u65e5\u672c\u306b20\u4eba\u307b\u3069\u3057\u304b\u3044\u306a\u3044\u30e9\u30dc\u30c7\u30a3\u30ec\u30af\u30bf\u30fc\u8cc7\u683c\u3092\u4fdd\u6709\u3057\u3001\u5c02\u9580\u8077\u5927\u5b66\u306e\u5ba2\u54e1\u6559\u54e1\u3082\u52d9\u3081\u3066\u3044\u307e\u3059\u3002<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\u3068\u9023\u643a\u3057\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3092\u542b\u3080\u8a3a\u7642\u306b\u3042\u305f\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%BC%95%E7%94%A8%E6%96%87%E7%8C%AE%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\n<li><a href=\"https:\/\/doi.org\/10.1186\/s13023-021-01727-2\" target=\"_blank\" rel=\"noopener\">Hoytema van Konijnenburg, E.M.M., Wortmann, S.B., Koelewijn, M. et al. Treatable inherited metabolic disorders causing intellectual disability: 2021 review and digital app. Orphanet J Rare Dis 16, 170 (2021).<\/a><\/li>\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.ymgme.2011.11.191\" target=\"_blank\" rel=\"noopener\">Van Karnebeek, Clara D. M., and Sylvia Stockler. Treatable Inborn Errors of Metabolism Causing Intellectual Disability: A Systematic Literature Review. Molecular Genetics and Metabolism, vol. 105, no. 3, 2012, pp. 368\u201381.<\/a><\/li>\n\n\n<li><a href=\"https:\/\/doi.org\/10.3389\/fped.2021.526779\" target=\"_blank\" rel=\"noopener\">Savatt, Juliann M., and Scott M. Myers. Genetic Testing in Neurodevelopmental Disorders. Frontiers in Pediatrics, vol. 9, 2021, p. 526779.<\/a><\/li>\n\n\n<li><a href=\"https:\/\/doi.org\/10.21037\/tp.2020.02.02\" target=\"_blank\" rel=\"noopener\">Patel, Dilip R., et al. A Clinical Primer on Intellectual Disability. Translational Pediatrics, vol. 9, no. S1, 2020, pp. S23\u201335.<\/a><\/li>\n\n\n<li><a href=\"https:\/\/doi.org\/10.1111\/jpc.16598\" target=\"_blank\" rel=\"noopener\">Donoghue, Sarah E., and David J. Amor. Intellectual Disability: A Potentially Treatable Condition. Journal of Paediatrics and Child Health, vol. 60, no. 7, 2024, pp. 273\u201378.<\/a><\/li>\n\n\n<li><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4747\" target=\"_blank\" rel=\"noopener\">\u96e3\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc\u300c\u30d5\u30a7\u30cb\u30eb\u30b1\u30c8\u30f3\u5c3f\u75c7\uff08\u6307\u5b9a\u96e3\u75c5240\uff09\u300d<\/a><\/li>\n\n\n<li><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4612\" target=\"_blank\" rel=\"noopener\">\u96e3\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc\u300c\u8106\u5f31\uff38\u75c7\u5019\u7fa4\uff08\u6307\u5b9a\u96e3\u75c5206\uff09\u300d<\/a><\/li>\n\n\n<li><a href=\"https:\/\/www.shouman.jp\/disease\/details\/08_06_076\/\" target=\"_blank\" rel=\"noopener\">\u5c0f\u5150\u6162\u6027\u7279\u5b9a\u75be\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc\u300c\u30e0\u30b3\u591a\u7cd6\u75c7\u2161\u578b\u300d<\/a><\/li>\n\n\n<li><a href=\"https:\/\/www.mhlw.go.jp\/stf\/newpage_53881.html\" target=\"_blank\" rel=\"noopener\">\u539a\u751f\u52b4\u50cd\u7701\u300c\u6307\u5b9a\u96e3\u75c5\u4e00\u89a7\u300d<\/a><\/li>\n\n<\/ul>\n\n\n\n<div style=\"height:21px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%82%84%E3%81%95%E3%81%97%E3%81%84%E8%A8%80%E8%91%89%E3%81%AE%E8%AA%AC%E6%98%8E%EF%BD%9CHelpful_Terms\"><\/span>\u3084\u3055\u3057\u3044\u8a00\u8449\u306e\u8aac\u660e\uff5cHelpful Terms<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\uff08Monogenic Disorder\uff09<\/strong><br>1\u3064\u306e\u907a\u4f1d\u5b50\u306e\u5909\u7570\u304c\u539f\u56e0\u3067\u8d77\u3053\u308b\u75c5\u6c17\u3067\u3059\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u306e\u4e2d\u306b\u306f\u3053\u306e\u30bf\u30a4\u30d7\u306b\u5f53\u3066\u306f\u307e\u308b\u3082\u306e\u304c\u3042\u308a\u3001\u65e9\u304f\u898b\u3064\u3051\u308c\u3070\u6cbb\u7642\u306b\u3064\u306a\u304c\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u5148\u5929\u6027\u4ee3\u8b1d\u7570\u5e38\u75c7\uff08Inborn Errors of Metabolism\uff1aIEMs\uff09<\/strong><br>\u4f53\u5185\u3067\u98df\u3079\u7269\u3084\u5316\u5b66\u7269\u8cea\u3092\u3046\u307e\u304f\u51e6\u7406\u3067\u304d\u306a\u3044\u75c5\u6c17\u306e\u30b0\u30eb\u30fc\u30d7\u3067\u3059\u3002\u8133\u306e\u767a\u9054\u306b\u5f71\u97ff\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u7279\u5225\u306a\u98df\u4e8b\u3084\u85ac\u3067\u6539\u5584\u3059\u308b\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\uff08Exome Sequencing\uff1aES\uff09<\/strong><br>\u907a\u4f1d\u5b50\u306e\u4e2d\u3067\u3082\u7279\u306b\u91cd\u8981\u306a\u90e8\u5206\uff08\u30a8\u30af\u30bd\u30f3\uff09\u3092\u8a73\u3057\u304f\u8abf\u3079\u308b\u691c\u67fb\u3067\u3059\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3084\u767a\u9054\u306e\u9045\u308c\u306e\u539f\u56e0\u304c\u907a\u4f1d\u5b50\u306b\u3042\u308b\u304b\u3069\u3046\u304b\u3092\u8abf\u3079\u308b\u969b\u306b\u4f7f\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u67d3\u8272\u4f53<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u691c\u67fb\uff08Chromosomal Microarray\uff1aCMA\uff09<\/strong><br>\u67d3\u8272\u4f53\u306b\u5c0f\u3055\u306a\u6b20\u5931\u3084\u91cd\u8907\u304c\u306a\u3044\u304b\u3092\u8abf\u3079\u308b\u691c\u67fb\u3067\u3059\u3002\u3053\u3046\u3057\u305f\u5909\u5316\u304c\u767a\u9054\u3084\u884c\u52d5\u306b\u5f71\u97ff\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u8106\u5f31X\u75c7\u5019\u7fa4\uff08Fragile X Syndrome\uff09<\/strong><br>FMR1\u3068\u3044\u3046\u907a\u4f1d\u5b50\u306e\u7570\u5e38\u304c\u539f\u56e0\u3067\u8d77\u3053\u308b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u306e\u3072\u3068\u3064\u3067\u3059\u3002\u7537\u306e\u5b50\u306b\u591a\u304f\u898b\u3089\u308c\u3001\u5c02\u7528\u306e\u907a\u4f1d\u5b50\u691c\u67fb\u3067\u8a3a\u65ad\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u9175\u7d20\u88dc\u5145\u7642\u6cd5\uff08Enzyme Replacement Therapy\uff1aERT\uff09<\/strong><br>\u4f53\u5185\u3067\u4e0d\u8db3\u3057\u3066\u3044\u308b\u9175\u7d20\u3092\u5916\u304b\u3089\u88dc\u3046\u6cbb\u7642\u6cd5\u3067\u3059\u3002\u4e00\u90e8\u306e\u5148\u5929\u6027\u4ee3\u8b1d\u7570\u5e38\u75c7\u306a\u3069\u3067\u4f7f\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u610f\u7fa9\u4e0d\u660e\u306e\u5909\u7570\uff08Variant of Uncertain Significance\uff1aVUS\uff09<\/strong><br>\u907a\u4f1d\u5b50\u691c\u67fb\u3067\u898b\u3064\u304b\u3063\u305f\u3082\u306e\u306e\u3001\u75c5\u6c17\u306e\u539f\u56e0\u304b\u3069\u3046\u304b\u304c\u307e\u3060\u308f\u304b\u3089\u306a\u3044\u5909\u5316\u306e\u3053\u3068\u3067\u3059\u3002\u6570\u5e74\u5f8c\u306b\u65b0\u3057\u3044\u60c5\u5831\u3067\u300c\u539f\u56e0\u3060\u3063\u305f\u300d\u3068\u5224\u660e\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u30d7\u30ec\u30b7\u30b8\u30e7\u30f3\u30fb\u30e1\u30c7\u30a3\u30b7\u30f3\uff08Precision 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