{"id":101418,"date":"2025-06-17T11:09:06","date_gmt":"2025-06-17T02:09:06","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=101418"},"modified":"2026-07-29T06:16:35","modified_gmt":"2026-07-28T21:16:35","slug":"homocystinuria-cbs-deficiency-overview","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/homocystinuria-cbs-deficiency-overview\/","title":{"rendered":"\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"},"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 id=\"ez-toc-container\" class=\"ez-toc-v2_0_85 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/homocystinuria-cbs-deficiency-overview\/#%E3%83%9B%E3%83%A2%E3%82%B7%E3%82%B9%E3%83%81%E3%83%B3%E5%B0%BF%E7%97%87%EF%BC%88CBS%E6%AC%A0%E6%90%8D%E7%97%87%EF%BC%89%E3%81%A8%E3%81%AF\" >\u30db\u30e2\u30b7\u30b9\u30c1\u30f3\u5c3f\u75c7\uff08CBS\u6b20\u640d\u75c7\uff09\u3068\u306f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/homocystinuria-cbs-deficiency-overview\/#%E5%8E%9F%E5%9B%A0%E9%81%BA%E4%BC%9D%E5%AD%90CBS%E3%81%A8%E3%83%9B%E3%83%A2%E3%82%B7%E3%82%B9%E3%83%86%E3%82%A4%E3%83%B3%E4%BB%A3%E8%AC%9D%E3%81%AE%E3%81%97%E3%81%8F%E3%81%BF\" >\u539f\u56e0\u907a\u4f1d\u5b50CBS\u3068\u30db\u30e2\u30b7\u30b9\u30c6\u30a4\u30f3\u4ee3\u8b1d\u306e\u3057\u304f\u307f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/homocystinuria-cbs-deficiency-overview\/#%E7%99%BA%E7%97%87%E9%A0%BB%E5%BA%A6%E3%81%A8%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%81%AE%E4%BD%8D%E7%BD%AE%E3%81%A5%E3%81%91\" >\u767a\u75c7\u983b\u5ea6\u3068\u65b0\u751f\u5150\u30de\u30b9\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3067\u306e\u4f4d\u7f6e\u3065\u3051<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/homocystinuria-cbs-deficiency-overview\/#%E7%97%87%E7%8A%B6%E3%81%AE%E7%89%B9%E5%BE%B4%EF%BD%9C%E3%83%93%E3%82%BF%E3%83%9F%E3%83%B3B6%E5%8F%8D%E5%BF%9C%E5%9E%8B%E3%81%A8%E9%9D%9E%E5%8F%8D%E5%BF%9C%E5%9E%8B%E3%81%AE%E3%81%A1%E3%81%8C%E3%81%84\" >\u75c7\u72b6\u306e\u7279\u5fb4\uff5c\u30d3\u30bf\u30df\u30f3B6\u53cd\u5fdc\u578b\u3068\u975e\u53cd\u5fdc\u578b\u306e\u3061\u304c\u3044<\/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\/homocystinuria-cbs-deficiency-overview\/#%E6%A4%9C%E6%9F%BB%E3%81%A8%E8%A8%BA%E6%96%AD%E3%81%AE%E6%B5%81%E3%82%8C\" >\u691c\u67fb\u3068\u8a3a\u65ad\u306e\u6d41\u308c<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/homocystinuria-cbs-deficiency-overview\/#%E6%B2%BB%E7%99%82%E3%81%A8%E6%97%A5%E5%B8%B8%E7%AE%A1%E7%90%86\" >\u6cbb\u7642\u3068\u65e5\u5e38\u7ba1\u7406<\/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\/homocystinuria-cbs-deficiency-overview\/#%E5%A6%8A%E5%A8%A0%E3%83%BB%E5%87%BA%E7%94%A3%E6%99%82%E3%81%AB%E6%B3%A8%E6%84%8F%E3%81%97%E3%81%9F%E3%81%84%E3%83%9D%E3%82%A4%E3%83%B3%E3%83%88\" >\u598a\u5a20\u30fb\u51fa\u7523\u6642\u306b\u6ce8\u610f\u3057\u305f\u3044\u30dd\u30a4\u30f3\u30c8<\/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\/homocystinuria-cbs-deficiency-overview\/#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%A8%E3%81%AE%E9%96%A2%E4%BF%82\" >NIPT\uff08\u65b0\u578b\u51fa\u751f\u524d\u8a3a\u65ad\uff09\u3068\u306e\u95a2\u4fc2<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/homocystinuria-cbs-deficiency-overview\/#%E3%82%88%E3%81%8F%E3%81%82%E3%82%8B%E8%B3%AA%E5%95%8F\" >\u3088\u304f\u3042\u308b\u8cea\u554f<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/homocystinuria-cbs-deficiency-overview\/#Q1_%E3%83%9B%E3%83%A2%E3%82%B7%E3%82%B9%E3%83%81%E3%83%B3%E5%B0%BF%E7%97%87%E3%81%AF%E6%B2%BB%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\" >Q1. \u30db\u30e2\u30b7\u30b9\u30c1\u30f3\u5c3f\u75c7\u306f\u6cbb\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-12\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/homocystinuria-cbs-deficiency-overview\/#Q2_%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%E5%BF%85%E3%81%9A%E8%A6%8B%E3%81%A4%E3%81%8B%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\" >Q2. \u65b0\u751f\u5150\u30de\u30b9\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3067\u5fc5\u305a\u898b\u3064\u304b\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-13\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/homocystinuria-cbs-deficiency-overview\/#Q3_%E3%81%8D%E3%82%87%E3%81%86%E3%81%A0%E3%81%84%E3%81%AB%E3%82%82%E5%90%8C%E3%81%98%E7%97%85%E6%B0%97%E3%81%8C%E5%87%BA%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\" >Q3. \u304d\u3087\u3046\u3060\u3044\u306b\u3082\u540c\u3058\u75c5\u6c17\u304c\u51fa\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-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/homocystinuria-cbs-deficiency-overview\/#Q4_NIPT%E3%81%A7%E3%83%9B%E3%83%A2%E3%82%B7%E3%82%B9%E3%83%81%E3%83%B3%E5%B0%BF%E7%97%87%E3%81%AF%E3%82%8F%E3%81%8B%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\" >Q4. NIPT\u3067\u30db\u30e2\u30b7\u30b9\u30c1\u30f3\u5c3f\u75c7\u306f\u308f\u304b\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-15\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/homocystinuria-cbs-deficiency-overview\/#Q5_%E5%A6%8A%E5%A8%A0%E4%B8%AD%E3%81%AB%E6%B0%97%E3%82%92%E3%81%A4%E3%81%91%E3%82%8B%E3%81%93%E3%81%A8%E3%81%AF%E3%81%82%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\" >Q5. \u598a\u5a20\u4e2d\u306b\u6c17\u3092\u3064\u3051\u308b\u3053\u3068\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-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/homocystinuria-cbs-deficiency-overview\/#Q6_%E5%A4%A7%E4%BA%BA%E3%81%AB%E3%81%AA%E3%81%A3%E3%81%A6%E3%81%8B%E3%82%89%E8%A8%BA%E6%96%AD%E3%81%95%E3%82%8C%E3%82%8B%E3%81%93%E3%81%A8%E3%82%82%E3%81%82%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\" >Q6. \u5927\u4eba\u306b\u306a\u3063\u3066\u304b\u3089\u8a3a\u65ad\u3055\u308c\u308b\u3053\u3068\u3082\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-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/homocystinuria-cbs-deficiency-overview\/#%E3%81%BE%E3%81%A8%E3%82%81\" >\u307e\u3068\u3081<\/a><\/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\/homocystinuria-cbs-deficiency-overview\/#%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><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\/homocystinuria-cbs-deficiency-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-20\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/homocystinuria-cbs-deficiency-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%81%93%E3%81%AE%E8%A8%98%E4%BA%8B%E3%81%A7%E3%82%8F%E3%81%8B%E3%82%8B%E3%81%93%E3%81%A8\"><\/span>\u3053\u306e\u8a18\u4e8b\u3067\u308f\u304b\u308b\u3053\u3068<span class=\"ez-toc-section-end\"><\/span><\/h2>\n  <ul style=\"margin: 0; padding-left: 1.2rem; font-size: 1rem; color: #444;\">\n    <li>\u30db\u30e2\u30b7\u30b9\u30c1\u30f3\u5c3f\u75c7\uff08CBS\u6b20\u640d\u75c7\uff09\u306e\u539f\u56e0\u3068\u3001<strong>CBS\u907a\u4f1d\u5b50<\/strong>\u304c\u95a2\u308f\u308b\u4ee3\u8b1d\u306e\u3057\u304f\u307f<\/li>\n    <li>\u65e5\u672c\u306e<strong>\u65b0\u751f\u5150\u30de\u30b9\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0<\/strong>\u3067\u3053\u306e\u75c5\u6c17\u304c\u3069\u306e\u3088\u3046\u306b\u898b\u3064\u304b\u308b\u304b<\/li>\n    <li>\u30d3\u30bf\u30df\u30f3B6\u306b\u53cd\u5fdc\u3059\u308b\u578b\u30fb\u53cd\u5fdc\u3057\u306a\u3044\u578b\u3067\u7570\u306a\u308b\u75c7\u72b6\u3068\u6cbb\u7642\u306e\u8003\u3048\u65b9<\/li>\n    <li>\u598a\u5a20\u30fb\u51fa\u7523\u6642\u306b\u6c17\u3092\u3064\u3051\u305f\u3044\u8840\u6813\u30ea\u30b9\u30af\u3078\u306e\u5bfe\u5fdc<\/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\u30fb\u308f\u304b\u3089\u306a\u3044\u3053\u3068\u306e\u7bc4\u56f2<\/li>\n  <\/ul>\n<\/div>\n\n\n\n<p>\u30db\u30e2\u30b7\u30b9\u30c1\u30f3\u5c3f\u75c7\uff08CBS\u6b20\u640d\u75c7\uff09\u306f\u3001<strong>CBS\u907a\u4f1d\u5b50<\/strong>\u306e\u5909\u5316\u306b\u3088\u3063\u3066\u30db\u30e2\u30b7\u30b9\u30c6\u30a4\u30f3\u3068\u3044\u3046\u30a2\u30df\u30ce\u9178\u304c\u4f53\u306b\u305f\u307e\u308a\u3084\u3059\u304f\u306a\u308b\u5148\u5929\u4ee3\u8b1d\u7570\u5e38\u3067\u3059\u3002\u65e5\u672c\u3067\u306f\u65b0\u751f\u5150\u671f\u306e\u8840\u6db2\u691c\u67fb\u3067\u898b\u3064\u304b\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u65e9\u671f\u306b\u6cbb\u7642\u3092\u59cb\u3081\u308c\u3070\u91cd\u3044\u5408\u4f75\u75c7\u3092\u907f\u3051\u3084\u3059\u3044\u75c5\u6c17\u3068\u3057\u3066\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u8a18\u4e8b\u3067\u306f\u3001\u539f\u56e0\u306e\u907a\u4f1d\u5b50\u304b\u3089\u75c7\u72b6\u3001\u691c\u67fb\u3001\u6cbb\u7642\u3001\u305d\u3057\u3066<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u3068\u306e\u95a2\u4fc2\u307e\u3067\u3001\u9806\u3092\u8ffd\u3063\u3066\u6574\u7406\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%83%9B%E3%83%A2%E3%82%B7%E3%82%B9%E3%83%81%E3%83%B3%E5%B0%BF%E7%97%87%EF%BC%88CBS%E6%AC%A0%E6%90%8D%E7%97%87%EF%BC%89%E3%81%A8%E3%81%AF\"><\/span>\u30db\u30e2\u30b7\u30b9\u30c1\u30f3\u5c3f\u75c7\uff08CBS\u6b20\u640d\u75c7\uff09\u3068\u306f<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u30db\u30e2\u30b7\u30b9\u30c1\u30f3\u5c3f\u75c7\u306f\u3001\u4f53\u5185\u3067\u30db\u30e2\u30b7\u30b9\u30c6\u30a4\u30f3\u3092\u51e6\u7406\u3059\u308b\u9175\u7d20\u306e\u50cd\u304d\u304c\u5f31\u304f\u306a\u308b\u3053\u3068\u3067\u8d77\u3053\u308b\u907a\u4f1d\u6027\u306e\u4ee3\u8b1d\u75be\u60a3\u3067\u3059\u3002\u6b63\u5f0f\u540d\u79f0\u306f\u300c\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\u300d\u3067\u3001\u7565\u79f0\u306fCBSD\u3067\u3059\u3002\u5225\u540d\u3068\u3057\u3066\u300c\u53e4\u5178\u7684\u30db\u30e2\u30b7\u30b9\u30c1\u30f3\u5c3f\u75c7\u300d\u3068\u3082\u547c\u3070\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u56fd\u969b\u75be\u75c5\u5206\u985e\uff08ICD-11\uff09\u3067\u306f\u300c\u30a2\u30df\u30ce\u9178\u4ee3\u8b1d\u306e\u5148\u5929\u7570\u5e38\u300d\u306b\u5206\u985e\u3055\u308c\u308b\u3001\u307e\u308c\u306a\u4ee3\u8b1d\u6027\u75be\u60a3\u306e\u3072\u3068\u3064\u3067\u3059\u3002\u4e21\u89aa\u306e\u3069\u3061\u3089\u304b\u304c\u4fdd\u56e0\u8005\u3067\u3042\u3063\u3066\u3082\u3001\u591a\u304f\u306e\u5834\u5408\u306f\u7121\u75c7\u72b6\u306e\u307e\u307e\u65e5\u5e38\u751f\u6d3b\u3092\u9001\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u907a\u4f1d\u5f62\u5f0f\u306f<strong>\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d<\/strong>\u3067\u3059\u3002\u7236\u89aa\u3068\u6bcd\u89aa\u306e\u4e21\u65b9\u304b\u3089\u5909\u5316\u3057\u305f\u907a\u4f1d\u5b50\u30921\u3064\u305a\u3064\u53d7\u3051\u7d99\u3044\u3060\u5b50\u3069\u3082\u306b\u3060\u3051\u75c7\u72b6\u304c\u73fe\u308c\u3001\u7247\u65b9\u3060\u3051\u306e\u5834\u5408\u306f\u4fdd\u56e0\u8005\u3068\u3057\u3066\u767a\u75c7\u3057\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%8E%9F%E5%9B%A0%E9%81%BA%E4%BC%9D%E5%AD%90CBS%E3%81%A8%E3%83%9B%E3%83%A2%E3%82%B7%E3%82%B9%E3%83%86%E3%82%A4%E3%83%B3%E4%BB%A3%E8%AC%9D%E3%81%AE%E3%81%97%E3%81%8F%E3%81%BF\"><\/span>\u539f\u56e0\u907a\u4f1d\u5b50CBS\u3068\u30db\u30e2\u30b7\u30b9\u30c6\u30a4\u30f3\u4ee3\u8b1d\u306e\u3057\u304f\u307f<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u539f\u56e0\u3068\u306a\u308b<strong>CBS\u907a\u4f1d\u5b50<\/strong>\u306f\u7b2c21\u756a\u67d3\u8272\u4f53\uff0821q22.3\uff09\u306b\u4f4d\u7f6e\u3057\u3001\u30b7\u30b9\u30bf\u30c1\u30aa\u30cb\u30f3\u03b2-\u30b7\u30f3\u30bf\u30fc\u30bc\u3068\u3044\u3046\u9175\u7d20\u306e\u8a2d\u8a08\u56f3\u3067\u3059\u3002\u3053\u306e\u9175\u7d20\u306f\u30db\u30e2\u30b7\u30b9\u30c6\u30a4\u30f3\u3068\u30bb\u30ea\u30f3\u304b\u3089\u30b7\u30b9\u30bf\u30c1\u30aa\u30cb\u30f3\u3092\u4f5c\u308b\u300c\u30c8\u30e9\u30f3\u30b9\u30b9\u30eb\u30d5\u30ec\u30fc\u30b7\u30e7\u30f3\u7d4c\u8def\u300d\u306e\u5165\u308a\u53e3\u3092\u62c5\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:12px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p class=\"has-text-align-center\"><strong>CBS\u907a\u4f1d\u5b50\u306e\u67d3\u8272\u4f53\u4e0a\u306e\u4f4d\u7f6e\uff0821q22.3\uff09<\/strong><\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"26\" src=\"\/nipt\/wp-content\/uploads\/2025\/06\/CBS-hgtIdeo_genome_asia_3f7ee_fbb500-1024x26.png\" alt=\"CBS\u907a\u4f1d\u5b50\u304c\u4f4d\u7f6e\u3059\u308b\u7b2c21\u756a\u67d3\u8272\u4f5321q22.3\u9818\u57df\u3092\u793a\u3057\u305f\u30a4\u30c7\u30aa\u30b0\u30e9\u30e0\" class=\"wp-image-101419\"\/><\/figure><\/div>\n\n\n<div style=\"height:12px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u3053\u306e\u9175\u7d20\u306f\u30d3\u30bf\u30df\u30f3B6\u306e\u6d3b\u6027\u578b\u3067\u3042\u308b\u30d4\u30ea\u30c9\u30ad\u30b5\u30fc\u30eb\u30ea\u30f3\u9178\u3092\u88dc\u56e0\u5b50\u3068\u3057\u3066\u5fc5\u8981\u3068\u3057\u307e\u3059\u3002\u9175\u7d20\u306e\u50cd\u304d\u304c\u5f31\u307e\u308b\u3068\u3001\u30db\u30e2\u30b7\u30b9\u30c6\u30a4\u30f3\u304c\u8840\u6db2\u4e2d\u306b\u84c4\u7a4d\u3057\u3001\u540c\u6642\u306b\u30e1\u30c1\u30aa\u30cb\u30f3\u306e\u6fc3\u5ea6\u3082\u4e0a\u6607\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u305f\u307e\u3063\u305f\u30db\u30e2\u30b7\u30b9\u30c6\u30a4\u30f3\u306f\u3001\u8840\u7ba1\u306e\u5185\u5074\u3092\u50b7\u3064\u3051\u3066\u8840\u6813\u304c\u3067\u304d\u3084\u3059\u3044\u72b6\u614b\u3092\u4f5c\u308a\u3001\u30b3\u30e9\u30fc\u30b2\u30f3\u306a\u3069\u306e\u7d50\u5408\u7d44\u7e54\u306b\u3082\u5f71\u97ff\u3092\u4e0e\u3048\u307e\u3059\u3002\u3053\u308c\u304c\u3001\u5f8c\u8ff0\u3059\u308b\u773c\u30fb\u9aa8\u683c\u30fb\u8840\u7ba1\u30fb\u795e\u7d4c\u306e\u75c7\u72b6\u306b\u3064\u306a\u304c\u308b\u4ed5\u7d44\u307f\u3067\u3059\u3002CBS\u907a\u4f1d\u5b50\u3067\u306f\u3053\u308c\u307e\u3067\u306b260\u7a2e\u985e\u4ee5\u4e0a\u306e\u75c5\u7684\u5909\u7570\u304c\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001\u591a\u304f\u306f\u30df\u30b9\u30bb\u30f3\u30b9\u5909\u7570\u3068\u547c\u3070\u308c\u308b\u30bf\u30a4\u30d7\u3067\u3059\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/autosomal-recessive-genetics-support\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u3068\u306f\uff1f\u4ed5\u7d44\u307f\u3068\u4ee3\u8868\u75be\u60a34\u3064\u3092\u89e3\u8aac <\/div>\n          <div class=\"blog-card-excerpt\">\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u306e\u4ed5\u7d44\u307f\u3084\u4ee3\u8868\u7684\u306a\u75be\u60a3\uff08\u56a2\u80de\u6027\u7dda\u7dad\u75c7\u3001\u30d5\u30a7\u30cb\u30eb\u30b1\u30c8\u30f3\u5c3f\u75c7\u306a\u3069\uff09\u3001\u8a3a\u65ad\u65b9\u6cd5\u3001\u6559\u80b2\u30fb\u533b\u7642\u30fb\u798f\u7949\u652f\u63f4\u306e\u30dd\u30a4\u30f3\u30c8\u3092\u308f\u304b\u308a\u3084\u3059\u304f\u89e3\u8aac\u3057...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%99%BA%E7%97%87%E9%A0%BB%E5%BA%A6%E3%81%A8%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%81%AE%E4%BD%8D%E7%BD%AE%E3%81%A5%E3%81%91\"><\/span>\u767a\u75c7\u983b\u5ea6\u3068\u65b0\u751f\u5150\u30de\u30b9\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3067\u306e\u4f4d\u7f6e\u3065\u3051<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u4e16\u754c\u5168\u4f53\u3067\u306e\u767a\u75c7\u983b\u5ea6\u306f\u3001\u304a\u3088\u305d10\u4e07\u4eba\u301c34\u4e07\u4eba\u306b1\u4eba\u3002\u5730\u57df\u5dee\u304c\u5927\u304d\u3044\u75c5\u6c17\u3067\u3059\u3002\u30ab\u30bf\u30fc\u30eb\u3067\u306f\u8fd1\u89aa\u5a5a\u306e\u5f71\u97ff\u30671,800\u4eba\u306b1\u4eba\u7a0b\u5ea6\u3068\u9ad8\u983b\u5ea6\u3067\u3042\u308b\u4e00\u65b9\u3001\u30a2\u30a4\u30eb\u30e9\u30f3\u30c9\u3067\u306f6\u4e075\u5343\u4eba\u306b1\u4eba\u7a0b\u5ea6\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u65e5\u672c\u3067\u306f\u3001\u751f\u5f8c4\u301c6\u65e5\u306b\u63a1\u8840\u3059\u308b<strong>\u65b0\u751f\u5150\u30de\u30b9\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\uff08\u30bf\u30f3\u30c7\u30e0\u30de\u30b9\u6cd5\uff09<\/strong>\u306e\u5bfe\u8c61\u75be\u60a3\u306e\u3072\u3068\u3064\u306b\u4f4d\u7f6e\u3065\u3051\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u304b\u304b\u3068\u304b\u3089\u63a1\u53d6\u3057\u305f\u3054\u304f\u5c11\u91cf\u306e\u8840\u6db2\u3067\u30e1\u30c1\u30aa\u30cb\u30f3\u6fc3\u5ea6\u3092\u6e2c\u5b9a\u3057\u3001\u57fa\u6e96\u3092\u8d85\u3048\u305f\u5834\u5408\u306b\u7cbe\u5bc6\u691c\u67fb\u3078\u9032\u3080\u6d41\u308c\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u3053\u3067\u4e00\u3064\u6ce8\u610f\u3057\u305f\u3044\u70b9\u304c\u3042\u308a\u307e\u3059\u3002\u30d3\u30bf\u30df\u30f3B6\u306b\u53cd\u5fdc\u3059\u308b\u30bf\u30a4\u30d7\u306f\u8840\u4e2d\u30e1\u30c1\u30aa\u30cb\u30f3\u306e\u4e0a\u6607\u304c\u8efd\u5ea6\u3067\u3059\u3002\u305d\u306e\u305f\u3081\u3001\u521d\u56de\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3060\u3051\u3067\u306f\u898b\u9003\u3055\u308c\u3084\u3059\u3044\u50be\u5411\u304c\u6307\u6458\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u75c7\u72b6\u306b\u6c17\u3065\u3044\u305f\u6642\u70b9\u3067\u8ffd\u52a0\u306e\u4ee3\u8b1d\u691c\u67fb\u3092\u691c\u8a0e\u3059\u308b\u59ff\u52e2\u304c\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/mcadd-medium-chain-acyl-coa-dehydrogenase-deficiency\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u4e2d\u9396\u30a2\u30b7\u30ebCoA\u30c7\u30d2\u30c9\u30ed\u30b2\u30ca\u30fc\u30bc\u6b20\u640d\u75c7\u3010ACADM\u3011 <\/div>\n          <div class=\"blog-card-excerpt\">\u4e3b\u306b\u4e73\u5e7c\u5150\u671f\u306b\u767a\u75c7\u3059\u308b\u4e2d\u9396\u30a2\u30b7\u30ebCoA\u30c7\u30d2\u30c9\u30ed\u30b2\u30ca\u30fc\u30bc\u6b20\u640d\u75c7\uff08MCADD\uff09\u306b\u3064\u3044\u3066\u3001\u75c7\u72b6\u30fb\u539f\u56e0\u30fb\u6cbb\u7642\u6cd5\u306a\u3069\u3092\u3084\u3055\u3057\u304f\u89e3\u8aac\uff5c\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%97%87%E7%8A%B6%E3%81%AE%E7%89%B9%E5%BE%B4%EF%BD%9C%E3%83%93%E3%82%BF%E3%83%9F%E3%83%B3B6%E5%8F%8D%E5%BF%9C%E5%9E%8B%E3%81%A8%E9%9D%9E%E5%8F%8D%E5%BF%9C%E5%9E%8B%E3%81%AE%E3%81%A1%E3%81%8C%E3%81%84\"><\/span>\u75c7\u72b6\u306e\u7279\u5fb4\uff5c\u30d3\u30bf\u30df\u30f3B6\u53cd\u5fdc\u578b\u3068\u975e\u53cd\u5fdc\u578b\u306e\u3061\u304c\u3044<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u75c7\u72b6\u306e\u91cd\u3055\u306f\u3001\u30d3\u30bf\u30df\u30f3B6\uff08\u30d4\u30ea\u30c9\u30ad\u30b7\u30f3\uff09\u3092\u670d\u7528\u3057\u305f\u3068\u304d\u306b\u6570\u5024\u304c\u6539\u5584\u3059\u308b\u304b\u3069\u3046\u304b\u3067\u5927\u304d\u304f\u5206\u304b\u308c\u307e\u3059\u3002\u79c1\u81ea\u8eab\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u73fe\u5834\u3067\u300c\u540c\u3058\u75c5\u540d\u3067\u3082\u7d4c\u904e\u304c\u5168\u304f\u9055\u3046\u300d\u3068\u9a5a\u304b\u308c\u308b\u3054\u5bb6\u65cf\u306b\u4f55\u5ea6\u3082\u304a\u4f1a\u3044\u3057\u3066\u304d\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<figure class=\"wp-table-container\"><table><thead><tr><th>\u6bd4\u8f03\u9805\u76ee<\/th><th>\u30d3\u30bf\u30df\u30f3B6\u53cd\u5fdc\u578b<\/th><th>\u975e\u53cd\u5fdc\u578b<\/th><\/tr><\/thead><tbody><tr><td>\u75c7\u72b6\u306e\u7a0b\u5ea6<\/td><td>\u6bd4\u8f03\u7684\u8efd\u3044\u50be\u5411<\/td><td>\u591a\u81d3\u5668\u306b\u53ca\u3073\u3084\u3059\u3044<\/td><\/tr><tr><td>\u767a\u75c7\u6642\u671f<\/td><td>\u5e74\u9577\u306b\u306a\u3063\u3066\u304b\u3089\u6c17\u3065\u304b\u308c\u308b\u3053\u3068\u3082<\/td><td>\u4e73\u5e7c\u5150\u671f\u304b\u3089\u6240\u898b\u304c\u51fa\u3084\u3059\u3044<\/td><\/tr><tr><td>\u77e5\u7684\u767a\u9054<\/td><td>\u6b63\u5e38\u7bc4\u56f2\u3092\u4fdd\u3061\u3084\u3059\u3044<\/td><td>\u652f\u63f4\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308b<\/td><\/tr><tr><td>\u6cbb\u7642\u306e\u4e2d\u5fc3<\/td><td>\u30d3\u30bf\u30df\u30f3B6\u88dc\u5145<\/td><td>\u30e1\u30c1\u30aa\u30cb\u30f3\u5236\u9650\u98df\u304c\u5fc5\u9808<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<p>\u4ee3\u8868\u7684\u306a\u773c\u306e\u75c7\u72b6\u306f\u30011\u301c8\u6b73\u3054\u308d\u306b\u8d77\u3053\u308a\u3084\u3059\u3044\u6c34\u6676\u4f53\u8131\u81fc\u3068\u5f37\u3044\u8fd1\u8996\u3002\u9aa8\u683c\u3067\u306f\u624b\u8db3\u304c\u9577\u304f\u8eab\u9577\u304c\u9ad8\u3044\u300c\u30de\u30eb\u30d5\u30a1\u30f3\u69d8\u4f53\u578b\u300d\u3001\u5074\u5f2f\u75c7\u3001\u9aa8\u304c\u3082\u308d\u304f\u306a\u308b\u9aa8\u7c97\u3057\u3087\u3046\u75c7\u304c\u307f\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8840\u7ba1\u7cfb\u3067\u306f\u9759\u8108\u3084\u8133\u30fb\u80ba\u306e\u8840\u7ba1\u304c\u8a70\u307e\u308b\u8840\u6813\u585e\u6813\u75c7\u304c\u6700\u3082\u91cd\u5927\u306a\u5408\u4f75\u75c7\u3067\u3059\u3002\u598a\u5a20\u30fb\u51fa\u7523\u306e\u524d\u5f8c\u306f\u8840\u6813\u30ea\u30b9\u30af\u304c\u3055\u3089\u306b\u9ad8\u307e\u308b\u305f\u3081\u3001\u7523\u79d1\u3068\u4ee3\u8b1d\u5c02\u9580\u533b\u306e\u9023\u643a\u3057\u305f\u7ba1\u7406\u304c\u6b20\u304b\u305b\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u795e\u7d4c\u30fb\u7cbe\u795e\u9762\u3067\u306f\u767a\u9054\u306e\u9045\u308c\u3001\u3066\u3093\u304b\u3093\u767a\u4f5c\u3001\u3046\u3064\u75c7\u72b6\u3084\u5f37\u8feb\u6027\u969c\u5bb3\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u76ae\u819a\u3084\u9aea\u306e\u8272\u304c\u8584\u304f\u306a\u308b\u3001\u982c\u304c\u8d64\u304f\u306a\u308b\uff08\u30de\u30e9\u30fc\u30d5\u30e9\u30c3\u30b7\u30e5\uff09\u3068\u3044\u3063\u305f\u6240\u898b\u304c\u51fa\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u3044\u305a\u308c\u3082\u7a0b\u5ea6\u306b\u306f\u500b\u4eba\u5dee\u304c\u5927\u304d\u304f\u3001\u6cbb\u7642\u958b\u59cb\u306e\u6642\u671f\u306b\u3088\u3063\u3066\u7d4c\u904e\u306f\u5909\u308f\u308a\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%81%A8%E8%A8%BA%E6%96%AD%E3%81%AE%E6%B5%81%E3%82%8C\"><\/span>\u691c\u67fb\u3068\u8a3a\u65ad\u306e\u6d41\u308c<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u8a3a\u65ad\u306f\u3001\u65b0\u751f\u5150\u30de\u30b9\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3092\u304d\u3063\u304b\u3051\u306b\u3001\u8840\u6db2\u30fb\u5c3f\u306e\u751f\u5316\u5b66\u691c\u67fb\u3068\u907a\u4f1d\u5b50\u691c\u67fb\u3092\u7d44\u307f\u5408\u308f\u305b\u3066\u78ba\u5b9a\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u751f\u5316\u5b66\u691c\u67fb\u3067\u306f\u3001\u901a\u5e3815\u03bcmol\/L\u672a\u6e80\u3068\u3055\u308c\u308b\u8840\u6f3f\u7dcf\u30db\u30e2\u30b7\u30b9\u30c6\u30a4\u30f3\u304c\u3001CBS\u6b20\u640d\u75c7\u3067\u306f100\u03bcmol\/L\u3092\u8d85\u3048\u3066\u691c\u51fa\u3055\u308c\u307e\u3059\u3002\u8840\u4e2d\u30e1\u30c1\u30aa\u30cb\u30f3\u306e\u4e0a\u6607\u3001\u5c3f\u4e2d\u30db\u30e2\u30b7\u30b9\u30c1\u30f3\u306e\u5897\u52a0\u3082\u7279\u5fb4\u7684\u306a\u6240\u898b\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u907a\u4f1d\u5b50\u691c\u67fb\u3067\u306fCBS\u907a\u4f1d\u5b50\u306e\u914d\u5217\u89e3\u6790\u306b\u3088\u308a\u300195\u301c98%\u7a0b\u5ea6\u306e\u75c7\u4f8b\u3067\u539f\u56e0\u3068\u306a\u308b\u5909\u7570\u3092\u7279\u5b9a\u3067\u304d\u307e\u3059\u3002\u7279\u5b9a\u306e\u5909\u7570\u306f\u6c11\u65cf\u7684\u80cc\u666f\u306b\u3088\u3063\u3066\u983b\u5ea6\u304c\u7570\u306a\u308b\u305f\u3081\u3001\u5bb6\u65cf\u6b74\u3068\u3042\u308f\u305b\u3066\u8a55\u4fa1\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u30d3\u30bf\u30df\u30f3B6\u8ca0\u8377\u8a66\u9a13\u3082\u8a3a\u65ad\u4e0a\u91cd\u8981\u306a\u691c\u67fb\u3067\u3059\u3002\u30d4\u30ea\u30c9\u30ad\u30b7\u30f3\u3092\u6bb5\u968e\u7684\u306b\u5897\u3084\u3057\u306a\u304c\u3089\u5185\u670d\u3057\u300148\u6642\u9593\u5f8c\u306b\u30db\u30e2\u30b7\u30b9\u30c6\u30a4\u30f3\u6fc3\u5ea6\u304c30%\u4ee5\u4e0a\u4e0b\u304c\u308c\u3070\u300c\u53cd\u5fdc\u578b\u300d\u3068\u5224\u65ad\u3055\u308c\u307e\u3059\u3002\u3053\u306e\u7d50\u679c\u306f\u3001\u305d\u306e\u5f8c\u306e\u6cbb\u7642\u65b9\u91dd\u3092\u5de6\u53f3\u3059\u308b\u5927\u304d\u306a\u5206\u304b\u308c\u9053\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/primary-hyperoxaluria-type1-ph1-overview\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u4e00\u6b21\u6027\u9ad8\u30b7\u30e5\u30a6\u9178\u5c3f\u75c71\u578b\u3010AGXT\u3011 <\/div>\n          <div class=\"blog-card-excerpt\">\u4e00\u6b21\u6027\u9ad8\u30b7\u30e5\u30a6\u9178\u5c3f\u75c71\u578b\uff08PH1\uff09\u306f\u3001\u809d\u81d3\u306e\u9175\u7d20\u7570\u5e38\u306b\u3088\u3063\u3066\u4f53\u5185\u3067\u30b7\u30e5\u30a6\u9178\u304c\u904e\u5270\u306b\u4f5c\u3089\u308c\u308b\u307e\u308c\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002\u539f\u56e0\u30fb\u75c7\u72b6\u30fb\u691c\u67fb\u30fb\u6cbb\u7642\u3092\u308f\u304b...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%B2%BB%E7%99%82%E3%81%A8%E6%97%A5%E5%B8%B8%E7%AE%A1%E7%90%86\"><\/span>\u6cbb\u7642\u3068\u65e5\u5e38\u7ba1\u7406<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u6cbb\u7642\u306e\u76ee\u6a19\u306f\u3001\u8840\u6f3f\u30db\u30e2\u30b7\u30b9\u30c6\u30a4\u30f3\u3092100\u03bcmol\/L\u4ee5\u4e0b\u3001\u3067\u304d\u308c\u307050\u03bcmol\/L\u672a\u6e80\u306b\u4fdd\u3061\u3001\u8840\u6813\u3084\u767a\u9054\u3078\u306e\u5f71\u97ff\u3092\u9632\u3050\u3053\u3068\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u30d3\u30bf\u30df\u30f3B6\u53cd\u5fdc\u578b\u3067\u306f\u3001\u533b\u5e2b\u306e\u7ba1\u7406\u306e\u3082\u3068\u30d4\u30ea\u30c9\u30ad\u30b7\u30f3\u3092\u5185\u670d\u3057\u3001\u6570\u5024\u304c\u5927\u304d\u304f\u6539\u5584\u3059\u308b\u30b1\u30fc\u30b9\u304c\u591a\u304f\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u4e00\u65b9\u3001\u975e\u53cd\u5fdc\u578b\u3067\u306f\u30e1\u30c1\u30aa\u30cb\u30f3\u5236\u9650\u98df\u304c\u6cbb\u7642\u306e\u67f1\u3068\u306a\u308a\u3001\u30e1\u30c1\u30aa\u30cb\u30f3\u3092\u542b\u307e\u306a\u3044\u7279\u6b8a\u306a\u30a2\u30df\u30ce\u9178\u88fd\u5264\u3067\u6804\u990a\u30d0\u30e9\u30f3\u30b9\u3092\u88dc\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u30db\u30e2\u30b7\u30b9\u30c6\u30a4\u30f3\u3092\u30e1\u30c1\u30aa\u30cb\u30f3\u3078\u518d\u5909\u63db\u3059\u308b\u30d9\u30bf\u30a4\u30f3\u3092\u7528\u3044\u308b\u6cbb\u7642\u3082\u3001\u533b\u5e2b\u306e\u6307\u793a\u306e\u3082\u3068\u3067\u5e83\u304f\u884c\u308f\u308c\u3066\u3044\u307e\u3059\u3002\u8449\u9178\u3084\u30d3\u30bf\u30df\u30f3B12\u3092\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u4f75\u7528\u3057\u3001\u4ee3\u8b1d\u7d4c\u8def\u5168\u4f53\u3092\u652f\u3048\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u901a\u9662\u306e\u983b\u5ea6\u306f\u3001\u4e73\u5150\u671f\u306f\u67081\u56de\u7a0b\u5ea6\u30011\u6b73\u3092\u904e\u304e\u308b\u30683\u304b\u6708\u306b1\u56de\u3001\u5b66\u7ae5\u671f\u4ee5\u964d\u306f\u534a\u5e74\u301c1\u5e74\u306b1\u56de\u304c\u76ee\u5b89\u3067\u3059\u3002\u9175\u7d20\u88dc\u5145\u7642\u6cd5\u3084\u907a\u4f1d\u5b50\u6cbb\u7642\u306f\u7814\u7a76\u6bb5\u968e\u306b\u3042\u308a\u3001\u4eca\u5f8c\u306e\u5b9f\u7528\u5316\u304c\u671f\u5f85\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%A6%8A%E5%A8%A0%E3%83%BB%E5%87%BA%E7%94%A3%E6%99%82%E3%81%AB%E6%B3%A8%E6%84%8F%E3%81%97%E3%81%9F%E3%81%84%E3%83%9D%E3%82%A4%E3%83%B3%E3%83%88\"><\/span>\u598a\u5a20\u30fb\u51fa\u7523\u6642\u306b\u6ce8\u610f\u3057\u305f\u3044\u30dd\u30a4\u30f3\u30c8<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u30db\u30e2\u30b7\u30b9\u30c1\u30f3\u5c3f\u75c7\u3092\u3082\u3064\u65b9\u304c\u598a\u5a20\u30fb\u51fa\u7523\u3092\u8fce\u3048\u308b\u5834\u5408\u3001\u8840\u6813\u30ea\u30b9\u30af\u306e\u7ba1\u7406\u304c\u6700\u512a\u5148\u4e8b\u9805\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u598a\u5a20\u4e2d\u304b\u3089\u7523\u8925\u671f\u306b\u304b\u3051\u3066\u306f\u3001\u4f4e\u5206\u5b50\u91cf\u30d8\u30d1\u30ea\u30f3\u3084\u30a2\u30b9\u30d4\u30ea\u30f3\u3092\u4f7f\u3063\u305f\u8840\u6813\u4e88\u9632\u304c\u691c\u8a0e\u3055\u308c\u307e\u3059\u3002\u30e1\u30c1\u30aa\u30cb\u30f3\u5236\u9650\u98df\u3084\u30d3\u30bf\u30df\u30f3B6\u30fb\u30d9\u30bf\u30a4\u30f3\u306e\u7d99\u7d9a\u3082\u57fa\u672c\u7684\u306b\u7d9a\u3051\u306a\u304c\u3089\u3001\u7523\u79d1\u533b\u3068\u4ee3\u8b1d\u5c02\u9580\u533b\u304c\u9023\u643a\u3057\u3066\u7d4c\u904e\u3092\u307f\u3066\u3044\u304f\u4f53\u5236\u304c\u671b\u307e\u3057\u3044\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5b9f\u969b\u306b\u3054\u76f8\u8ac7\u3092\u53d7\u3051\u308b\u4e2d\u3067\u306f\u3001\u300c\u81ea\u5206\u304c\u4fdd\u56e0\u8005\u304b\u3082\u3057\u308c\u306a\u3044\u304c\u3001\u30d1\u30fc\u30c8\u30ca\u30fc\u306f\u3069\u3046\u306a\u306e\u304b\u300d\u3068\u3044\u3046\u4e0d\u5b89\u3092\u53e3\u306b\u3055\u308c\u308b\u65b9\u304c\u5c11\u306a\u304f\u3042\u308a\u307e\u305b\u3093\u3002\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u306f\u7247\u65b9\u306e\u89aa\u3060\u3051\u304c\u4fdd\u56e0\u8005\u3067\u3042\u308c\u3070\u5b50\u3069\u3082\u3078\u306e\u5f71\u97ff\u306f\u9650\u5b9a\u7684\u306a\u305f\u3081\u3001\u5fc3\u914d\u306a\u5834\u5408\u306f\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u4e00\u5ea6\u6574\u7406\u3057\u3066\u307f\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"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%A8%E3%81%AE%E9%96%A2%E4%BF%82\"><\/span>NIPT\uff08\u65b0\u578b\u51fa\u751f\u524d\u8a3a\u65ad\uff09\u3068\u306e\u95a2\u4fc2<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u6a19\u6e96\u7684\u306aNIPT\u306f13\u756a\u30fb18\u756a\u30fb21\u756a\u67d3\u8272\u4f53\u306e\u30c8\u30ea\u30bd\u30df\u30fc\u306a\u3069\u3001\u67d3\u8272\u4f53\u30ec\u30d9\u30eb\u306e\u5909\u5316\u304c\u4e3b\u306a\u5bfe\u8c61\u3067\u3059\u3002\u30db\u30e2\u30b7\u30b9\u30c1\u30f3\u5c3f\u75c7\u306e\u3088\u3046\u306a\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u30fb\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u75be\u60a3\u306f\u3001\u57fa\u672c\u306e\u691c\u67fb\u9805\u76ee\u306b\u306f\u542b\u307e\u308c\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30afNIPT\u3067\u306f\u3001\u57fa\u672c\u306e\u67d3\u8272\u4f53\u691c\u67fb\u306b\u52a0\u3048\u305f\u30d7\u30e9\u30f3\u3082\u7528\u610f\u3057\u3066\u3044\u307e\u3059\u3002<strong>\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3200\u7a2e\u985e\u4ee5\u4e0a<\/strong>\u3001\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3078\u306e\u5bfe\u5fdc\u304c\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u305f\u3060\u3057\u3001CBS\u6b20\u640d\u75c7\u306f\u51fa\u751f\u5f8c\u306e\u65b0\u751f\u5150\u30de\u30b9\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3067\u767a\u898b\u3067\u304d\u308b\u4ee3\u8b1d\u75be\u60a3\u3067\u3059\u3002\u8a3a\u65ad\u306e\u4e2d\u5fc3\u306f\u3042\u304f\u307e\u3067\u51fa\u751f\u5f8c\u306e\u8840\u6db2\u691c\u67fb\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u4e21\u89aa\u306e\u3069\u3061\u3089\u304b\u304c\u4fdd\u56e0\u8005\u3068\u5206\u304b\u3063\u3066\u3044\u308b\u300d\u300c\u8fd1\u89aa\u8005\u306b\u540c\u3058\u75c5\u6c17\u306e\u65b9\u304c\u3044\u308b\u300d\u3002\u3053\u3046\u3057\u305f\u4e8b\u60c5\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u598a\u5a20\u524d\u30fb\u598a\u5a20\u4e2d\u306e\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u691c\u67fb\u306e\u9078\u629e\u80a2\u3092\u76f8\u8ac7\u3059\u308b\u3068\u898b\u901a\u3057\u304c\u7acb\u3066\u3084\u3059\u304f\u306a\u308a\u307e\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:#7e6cae; color:#fff; padding:0.9rem 2.2rem; border-radius:999px; text-decoration:none; font-weight:bold;\">NIPT\u306e\u691c\u67fb\u9805\u76ee\u3092\u78ba\u8a8d\u3057\u3066\u4e88\u7d04\u3059\u308b<\/a>\n<\/div>\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>\u30db\u30e2\u30b7\u30b9\u30c1\u30f3\u5c3f\u75c7\u306b\u3064\u3044\u3066\u3001\u76f8\u8ac7\u306e\u5834\u3067\u3088\u304f\u3044\u305f\u3060\u304f\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_%E3%83%9B%E3%83%A2%E3%82%B7%E3%82%B9%E3%83%81%E3%83%B3%E5%B0%BF%E7%97%87%E3%81%AF%E6%B2%BB%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span>Q1. \u30db\u30e2\u30b7\u30b9\u30c1\u30f3\u5c3f\u75c7\u306f\u6cbb\u308a\u307e\u3059\u304b\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5b8c\u6cbb\u3068\u3044\u3046\u6982\u5ff5\u3067\u306f\u306a\u304f\u3001\u751f\u6daf\u306b\u308f\u305f\u308b\u7ba1\u7406\u304c\u5fc5\u8981\u306a\u75c5\u6c17\u3067\u3059\u3002\u30d3\u30bf\u30df\u30f3B6\u53cd\u5fdc\u578b\u3067\u306f\u3001\u670d\u85ac\u3067\u6570\u5024\u304c\u826f\u597d\u306b\u4fdd\u305f\u308c\u308b\u4f8b\u304c\u591a\u304f\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u975e\u53cd\u5fdc\u578b\u3067\u3082\u3001\u98df\u4e8b\u7642\u6cd5\u3068\u30d9\u30bf\u30a4\u30f3\u306e\u7d99\u7d9a\u3067\u8840\u6813\u3084\u767a\u9054\u3078\u306e\u5f71\u97ff\u3092\u9632\u3052\u308b\u30b1\u30fc\u30b9\u304c\u591a\u304f\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q2_%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%E5%BF%85%E3%81%9A%E8%A6%8B%E3%81%A4%E3%81%8B%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span>Q2. \u65b0\u751f\u5150\u30de\u30b9\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3067\u5fc5\u305a\u898b\u3064\u304b\u308a\u307e\u3059\u304b\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u975e\u53cd\u5fdc\u578b\u3067\u306f\u6bd4\u8f03\u7684\u898b\u3064\u304b\u308a\u3084\u3059\u3044\u4e00\u65b9\u3001\u30d3\u30bf\u30df\u30f3B6\u53cd\u5fdc\u578b\u306f\u6570\u5024\u4e0a\u6607\u304c\u8efd\u5ea6\u3067\u898b\u9003\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u6210\u9577\u5f8c\u306b\u6c34\u6676\u4f53\u8131\u81fc\u3084\u8840\u6813\u75c7\u3092\u304d\u3063\u304b\u3051\u306b\u8a3a\u65ad\u3055\u308c\u308b\u30b1\u30fc\u30b9\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q3_%E3%81%8D%E3%82%87%E3%81%86%E3%81%A0%E3%81%84%E3%81%AB%E3%82%82%E5%90%8C%E3%81%98%E7%97%85%E6%B0%97%E3%81%8C%E5%87%BA%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span>Q3. \u304d\u3087\u3046\u3060\u3044\u306b\u3082\u540c\u3058\u75c5\u6c17\u304c\u51fa\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\u306e\u5834\u5408\u3001\u6b21\u306e\u304a\u5b50\u3055\u3093\u304c\u767a\u75c7\u3059\u308b\u78ba\u7387\u306f4\u5206\u306e1\u3067\u3059\u3002\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u8a73\u3057\u3044\u78ba\u7387\u3084\u691c\u67fb\u306e\u9078\u629e\u80a2\u3092\u78ba\u8a8d\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q4_NIPT%E3%81%A7%E3%83%9B%E3%83%A2%E3%82%B7%E3%82%B9%E3%83%81%E3%83%B3%E5%B0%BF%E7%97%87%E3%81%AF%E3%82%8F%E3%81%8B%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span>Q4. NIPT\u3067\u30db\u30e2\u30b7\u30b9\u30c1\u30f3\u5c3f\u75c7\u306f\u308f\u304b\u308a\u307e\u3059\u304b\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6a19\u6e96\u7684\u306aNIPT\u306e\u5bfe\u8c61\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u306b\u5bfe\u5fdc\u3057\u305f\u62e1\u5f35\u30d7\u30e9\u30f3\u3067\u691c\u8a0e\u3067\u304d\u308b\u5834\u5408\u306f\u3042\u308a\u307e\u3059\u3002\u305f\u3060\u3057\u78ba\u5b9a\u8a3a\u65ad\u306f\u3001\u51fa\u751f\u5f8c\u306e\u65b0\u751f\u5150\u30de\u30b9\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3068\u907a\u4f1d\u5b50\u691c\u67fb\u304c\u4e2d\u5fc3\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q5_%E5%A6%8A%E5%A8%A0%E4%B8%AD%E3%81%AB%E6%B0%97%E3%82%92%E3%81%A4%E3%81%91%E3%82%8B%E3%81%93%E3%81%A8%E3%81%AF%E3%81%82%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span>Q5. \u598a\u5a20\u4e2d\u306b\u6c17\u3092\u3064\u3051\u308b\u3053\u3068\u306f\u3042\u308a\u307e\u3059\u304b\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8840\u6813\u30ea\u30b9\u30af\u306e\u7ba1\u7406\u304c\u6700\u3082\u91cd\u8981\u3067\u3059\u3002\u7523\u79d1\u533b\u3068\u4ee3\u8b1d\u5c02\u9580\u533b\u304c\u9023\u643a\u3057\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u8840\u6813\u4e88\u9632\u306e\u85ac\u5264\u3092\u7528\u3044\u306a\u304c\u3089\u3001\u98df\u4e8b\u7642\u6cd5\u3084\u670d\u85ac\u3092\u7d99\u7d9a\u3059\u308b\u7ba1\u7406\u304c\u884c\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q6_%E5%A4%A7%E4%BA%BA%E3%81%AB%E3%81%AA%E3%81%A3%E3%81%A6%E3%81%8B%E3%82%89%E8%A8%BA%E6%96%AD%E3%81%95%E3%82%8C%E3%82%8B%E3%81%93%E3%81%A8%E3%82%82%E3%81%82%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span>Q6. \u5927\u4eba\u306b\u306a\u3063\u3066\u304b\u3089\u8a3a\u65ad\u3055\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u304b\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3042\u308a\u307e\u3059\u3002\u30d3\u30bf\u30df\u30f3B6\u53cd\u5fdc\u578b\u3092\u4e2d\u5fc3\u306b\u3001\u6210\u4eba\u671f\u306b\u5f37\u5ea6\u8fd1\u8996\u3084\u8840\u6813\u75c7\u306e\u7cbe\u67fb\u3092\u304d\u3063\u304b\u3051\u306b\u898b\u3064\u304b\u308b\u4f8b\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u5fc3\u5f53\u305f\u308a\u304c\u3042\u308b\u5834\u5408\u306f\u4ee3\u8b1d\u5c02\u9580\u306e\u533b\u7642\u6a5f\u95a2\u3078\u306e\u76f8\u8ac7\u304c\u7b2c\u4e00\u6b69\u3067\u3059\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\"><\/span>\u307e\u3068\u3081<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u30db\u30e2\u30b7\u30b9\u30c1\u30f3\u5c3f\u75c7\uff08CBS\u6b20\u640d\u75c7\uff09\u306f\u3001CBS\u907a\u4f1d\u5b50\u306e\u5909\u5316\u306b\u3088\u3063\u3066\u30db\u30e2\u30b7\u30b9\u30c6\u30a4\u30f3\u304c\u84c4\u7a4d\u3059\u308b\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u306e\u4ee3\u8b1d\u75be\u60a3\u3002\u65e5\u672c\u3067\u306f\u65b0\u751f\u5150\u30de\u30b9\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3067\u767a\u898b\u306e\u7cf8\u53e3\u304c\u5f97\u3089\u308c\u3001\u30d3\u30bf\u30df\u30f3B6\u53cd\u5fdc\u578b\u304b\u975e\u53cd\u5fdc\u578b\u304b\u306b\u3088\u3063\u3066\u6cbb\u7642\u306e\u9053\u7b4b\u304c\u5909\u308f\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u598a\u5a20\u30fb\u51fa\u7523\u6642\u306f\u8840\u6813\u30ea\u30b9\u30af\u3078\u306e\u76ee\u914d\u308a\u304c\u6b20\u304b\u305b\u307e\u305b\u3093\u3002\u4fdd\u56e0\u8005\u304b\u3069\u3046\u304b\u6c17\u306b\u306a\u308b\u65b9\u3001\u5bb6\u65cf\u6b74\u304c\u3042\u308b\u65b9\u306f\u3001\u307e\u305a\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u72b6\u6cc1\u3092\u6574\u7406\u3059\u308b\u3053\u3068\u304b\u3089\u59cb\u3081\u3066\u307f\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<p>NIPT\u306e\u691c\u67fb\u7bc4\u56f2\u3084\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u3078\u306e\u5bfe\u5fdc\u306b\u3064\u3044\u3066\u8a73\u3057\u304f\u77e5\u308a\u305f\u3044\u65b9\u306f\u3001\u4e0b\u8a18\u304b\u3089\u304a\u6c17\u8efd\u306b\u3054\u76f8\u8ac7\u304f\u3060\u3055\u3044\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:#06c755; color:#fff; padding:0.9rem 2.2rem; border-radius:999px; text-decoration:none; font-weight:bold;\">LINE\u3067\u7121\u6599\u76f8\u8ac7\u3059\u308b<\/a>\n<\/div>\n\n\n\n    <a href=\"\/nipt\/metachromatic-leukodystrophy-arsa-overview\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\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 <\/div>\n          <div class=\"blog-card-excerpt\">\u30e1\u30bf\u30af\u30ed\u30de\u30c1\u30c3\u30af\u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\uff08MLD\uff09\u306f\u3001\u307e\u308c\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002\u539f\u56e0\u30fb\u75c7\u72b6\u30fb\u691c\u67fb\u30fb\u6cbb\u7642\u3092\u5c02\u9580\u7684\u304b\u3064\u3084\u3055\u3057\u304f\u3054\u7d39\u4ecb\u3057\u307e\u3059\u3002\uff5c\u30d2\u30ed\u30af\u30ea\u30cb\u30c3...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n    <a href=\"\/nipt\/period-prenatal-diagnosis\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u51fa\u751f\u524d\u8a3a\u65ad\u306f\u3044\u3064\u304b\u3089\u3044\u3064\u307e\u3067\uff1f\u7a2e\u985e\u3084\u6642\u671f\u3001\u8a3a\u65ad\u65b9\u6cd5\u306b\u3064\u3044\u3066\u3010\u533b\u5e2b\u76e3\u4fee\u3011 <\/div>\n          <div class=\"blog-card-excerpt\">\u3053\u306e\u8a18\u4e8b\u3067\u306f\u3001\u51fa\u751f\u524d\u8a3a\u65ad\u3092\u3044\u3064\u304b\u3089\u3044\u3064\u307e\u3067\u53d7\u3051\u3089\u308c\u308b\u304b\u8a73\u3057\u304f\u8aac\u660e\u3057\u307e\u3059\u3002NIPT\u306a\u3069\u7a2e\u985e\u3054\u3068\u306e\u6642\u671f\u3084\u8cbb\u7528\u3001\u967d\u6027\u3060\u3063\u305f\u5834\u5408\u306e\u5bfe\u5fdc\u307e\u3067\u7db2\u7f85\u3057\u3066\u3044...<\/div>\n      <\/div>\n    <\/a>\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<ul class=\"wp-block-list\">\n<li><strong>CBS\u907a\u4f1d\u5b50\uff08CBS gene\uff09<\/strong><br>\u30db\u30e2\u30b7\u30b9\u30c6\u30a4\u30f3\u3092\u51e6\u7406\u3059\u308b\u9175\u7d20\u306e\u8a2d\u8a08\u56f3\u3068\u306a\u308b\u907a\u4f1d\u5b50\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d<\/strong><br>\u4e21\u89aa\u304b\u3089\u75c5\u6c17\u306e\u539f\u56e0\u3068\u306a\u308b\u907a\u4f1d\u5b50\u30921\u3064\u305a\u3064\u53d7\u3051\u7d99\u3044\u3060\u3068\u304d\u306b\u767a\u75c7\u3059\u308b\u4ed5\u7d44\u307f\u3067\u3059\u3002\u89aa\u304c\u7121\u75c7\u72b6\u3067\u3082\u5b50\u3069\u3082\u306b\u51fa\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30db\u30e2\u30b7\u30b9\u30c6\u30a4\u30f3<\/strong><br>\u4f53\u5185\u306b\u305f\u307e\u308a\u3059\u304e\u308b\u3068\u8840\u7ba1\u3084\u795e\u7d4c\u306b\u5f71\u97ff\u3059\u308b\u7269\u8cea\u3067\u3001\u901a\u5e38\u306f\u9175\u7d20\u306b\u3088\u3063\u3066\u51e6\u7406\u3055\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u53cd\u5fdc\u578b\uff0f\u975e\u53cd\u5fdc\u578b<\/strong><br>\u30d3\u30bf\u30df\u30f3B6\u3092\u670d\u7528\u3057\u305f\u3068\u304d\u306b\u6570\u5024\u304c\u6539\u5584\u3059\u308b\u304b\u3069\u3046\u304b\u306b\u3088\u308b\u5206\u985e\u3067\u3059\u3002\u6cbb\u7642\u65b9\u91dd\u306b\u76f4\u7d50\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u65b0\u751f\u5150\u30de\u30b9\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0<\/strong><br>\u751f\u307e\u308c\u305f\u3070\u304b\u308a\u306e\u8d64\u3061\u3083\u3093\u306e\u8840\u6db2\u3067\u3001\u5148\u5929\u4ee3\u8b1d\u7570\u5e38\u306a\u3069\u3092\u65e9\u671f\u306b\u8abf\u3079\u308b\u691c\u67fb\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30e1\u30c1\u30aa\u30cb\u30f3\u5236\u9650\u98df<\/strong><br>\u30db\u30e2\u30b7\u30b9\u30c6\u30a4\u30f3\u306e\u3082\u3068\u306b\u306a\u308b\u30e1\u30c1\u30aa\u30cb\u30f3\u3092\u63a7\u3048\u308b\u98df\u4e8b\u7642\u6cd5\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<div style=\"border:1px solid #e2e2e2; border-radius:10px; padding:1.2rem 1.5rem; margin:2rem 0; background:#fafafa;\">\n<p style=\"margin:0 0 0.5rem; font-weight:bold; color:#333;\">\u76e3\u4fee\u8005<\/p>\n<p style=\"margin:0; font-size:0.95rem; color:#444; line-height:1.7;\">\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\u30fbLabo Director<br>\n\u6176\u61c9\u7fa9\u587e\u5927\u5b66\u533b\u5b66\u90e8\u5352\u696d\u3002\u65e5\u672c\u30fb\u30a2\u30e1\u30ea\u30ab\u4e21\u56fd\u306e\u533b\u5e2b\u56fd\u5bb6\u8a66\u9a13\u306b\u5408\u683c\u3057\u3001\u81e8\u5e8a\u7814\u4fee\u5f8c2\u5e74\u3067\u533b\u5b66\u535a\u58eb\u3092\u53d6\u5f97\u3002\u56fd\u5185\u306720\u4eba\u307b\u3069\u3057\u304b\u3044\u306a\u3044\u30e9\u30dc\u30c7\u30a3\u30ec\u30af\u30bf\u30fc\u8cc7\u683c\u3092\u4fdd\u6709\u3057\u3066\u3044\u307e\u3059\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/obgyn\/\">\u7523\u5a66\u4eba\u79d1<\/a>\u30fb\u5c0f\u5150\u79d1\u30fb\u81e8\u5e8a\u907a\u4f1d\u306e\u5c02\u9580\u533b\u3068\u9023\u643a\u3057\u306a\u304c\u3089\u3001NIPT\u3068\u907a\u4f1d\u6027\u75be\u60a3\u306b\u95a2\u3059\u308b\u60c5\u5831\u767a\u4fe1\u3092\u884c\u3063\u3066\u3044\u307e\u3059\u3002\u8457\u66f8\u306b\u300e\u598a\u5a20\u3057\u305f\u3089\u6700\u521d\u306b\u8aad\u3093\u3067\u6b32\u3057\u3044\u672c\u300f\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<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1524\/\" target=\"_blank\" rel=\"noopener\">Sacharow SJ, Picker JD, Levy HL. Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency. GeneReviews\u00ae. University of Washington, Seattle.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/medlineplus.gov\/genetics\/condition\/homocystinuria\/\" target=\"_blank\" rel=\"noopener\">MedlinePlus Genetics. Homocystinuria. U.S. National Library of Medicine.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.jsimd.net\/guideline.html\" target=\"_blank\" rel=\"noopener\">\u65e5\u672c\u5148\u5929\u4ee3\u8b1d\u7570\u5e38\u5b66\u4f1a. \u8a3a\u7642\u30ac\u30a4\u30c9\u30e9\u30a4\u30f3\u4e00\u89a7.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.jsms.gr.jp\/\" target=\"_blank\" rel=\"noopener\">\u65e5\u672c\u30de\u30b9\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u5b66\u4f1a.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1111\/bph.15991\" target=\"_blank\" rel=\"noopener\">Majtan T, et al. Recent Therapeutic Approaches to Cystathionine Beta-synthase-deficient Homocystinuria. British Journal of Pharmacology. 2023.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1136\/jcp-2021-208029\" target=\"_blank\" rel=\"noopener\">Gerrard A, Dawson C. Homocystinuria Diagnosis and Management: It Is Not All Classical. Journal of Clinical Pathology. 2022.<\/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>\u30db\u30e2\u30b7\u30b9\u30c1\u30f3\u5c3f\u75c7, CBS, cystathionine beta-synthase, \u30db\u30e2\u30b7\u30b9\u30c6\u30a4\u30f3, \u30e1\u30c1\u30aa\u30cb\u30f3, \u30d4\u30ea\u30c9\u30ad\u30b7\u30f3, \u30d3\u30bf\u30df\u30f3B6, \u30d9\u30bf\u30a4\u30f3, \u30c8\u30e9\u30f3\u30b9\u30b9\u30eb\u30d5\u30ec\u30fc\u30b7\u30e7\u30f3, \u6c34\u6676\u4f53\u8131\u81fc, \u30de\u30eb\u30d5\u30a1\u30f3\u69d8\u4f53\u578b, \u8840\u6813\u75c7, \u30e1\u30c1\u30aa\u30cb\u30f3\u5236\u9650\u98df, \u65b0\u751f\u5150\u30de\u30b9\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0, \u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d, \u9ad8\u30db\u30e2\u30b7\u30b9\u30c6\u30a4\u30f3\u8840\u75c7, \u8449\u9178, \u30d3\u30bf\u30df\u30f3B12, \u907a\u4f1d\u6027\u4ee3\u8b1d\u75be\u60a3, <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>, \u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/sup><\/sup><\/p>\n\n\n\n<script type=\"application\/ld+json\">\n{\n  \"@context\": \"https:\/\/schema.org\",\n  \"@type\": \"Article\",\n  \"mainEntityOfPage\": {\n    \"@type\": \"WebPage\",\n    \"@id\": \"https:\/\/www.hiro-clinic.or.jp\/nipt\/homocystinuria-cbs-deficiency-overview\"\n  },\n  \"headline\": \"\u30db\u30e2\u30b7\u30b9\u30c1\u30f3\u5c3f\u75c7\uff08CBS\u6b20\u640d\u75c7\uff09\u306e\u75c7\u72b6\u3068\u6cbb\u7642\uff5c\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\",\n  \"description\": 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