{"id":122503,"date":"2026-01-14T09:43:10","date_gmt":"2026-01-14T00:43:10","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=122503"},"modified":"2026-07-22T05:25:43","modified_gmt":"2026-07-21T20:25:43","slug":"atypical-stickler-syndrome-type-1-col2a1","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/atypical-stickler-syndrome-type-1-col2a1\/","title":{"rendered":"\u975e\u5b9a\u578b\u30b9\u30c6\u30a3\u30c3\u30af\u30e9\u30fc\u75c7\u5019\u7fa41\u578b\uff5cCOL2A1\u3068\u773c\u9650\u5c40\u578b"},"content":{"rendered":"\n<div style=\"border:solid #ffe6e6 0.8rem;background-color: #fff9f9;padding:3% 5%;margin:1rem 0 3rem;\">\n<h2 style=\"margin-top:1rem;\">\u3053\u306e\u8a18\u4e8b\u306e\u307e\u3068\u3081<\/h2>\n<p><strong>\u975e\u5b9a\u578b\u30b9\u30c6\u30a3\u30c3\u30af\u30e9\u30fc\u75c7\u5019\u7fa41\u578b\uff08Atypical Stickler syndrome, type I\uff09\u306f\u30012\u578b\u30b3\u30e9\u30fc\u30b2\u30f3\u3092\u3064\u304f\u308bCOL2A1\u907a\u4f1d\u5b50\u306e\u5909\u5316\u306b\u3088\u308b\u75be\u60a3\u3067\u3059\u3002<\/strong>\u6559\u79d1\u66f8\u7684\u306a\u300c\u773c\u30fb\u8033\u30fb\u95a2\u7bc0\u300d\u306e\u4e09\u5fb4\u304c\u305d\u308d\u308f\u306a\u304b\u3063\u305f\u308a\u3001\u901a\u5e38\u306f\u5831\u544a\u3055\u308c\u306a\u3044\u75c7\u72b6\u3092\u4f34\u3063\u305f\u308a\u3059\u308b\u4e00\u7fa4\u3092\u6307\u3057\u307e\u3059\u3002\u4ee3\u8868\u7684\u306a\u30b5\u30d6\u30bf\u30a4\u30d7\u304c\u3001COL2A1\u907a\u4f1d\u5b50\u306e\u30a8\u30af\u30bd\u30f32\u306e\u5909\u5316\u3067\u8d77\u3053\u308b\u300c\u773c\u9650\u5c40\u578b\uff08ocular-only\uff09\u300d\u3067\u3059\u3002\u5168\u8eab\u75c7\u72b6\u306f\u307b\u3068\u3093\u3069\u51fa\u307e\u305b\u3093\u3002\u4e00\u65b9\u3067\u3001\u7db2\u819c\u5265\u96e2\u306e\u30ea\u30b9\u30af\u3060\u3051\u306f\u9ad8\u3044\u307e\u307e\u6b8b\u308a\u307e\u3059\u3002\u672c\u8a18\u4e8b\u3067\u306f\u3001\u5178\u578b\u7684\u306a1\u578b\u3068\u306e\u9055\u3044\u30fb\u539f\u56e0\u30fb\u75c7\u72b6\u306e\u5e45\u30fb\u8a3a\u65ad\u306e\u30dd\u30a4\u30f3\u30c8\u3092\u3001\u56fd\u5185\u5916\u306e\u5b66\u8853\u5831\u544a\u306b\u3082\u3068\u3065\u3044\u3066\u6574\u7406\u3057\u307e\u3059\u3002\u3042\u308f\u305b\u3066\u598a\u5a20\u4e2d\u306eNIPT\u3068\u306e\u95a2\u4fc2\u3082\u89e3\u8aac\u3057\u307e\u3059\u3002\n<\/p><\/div>\n\n\n\n<div 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/atypical-stickler-syndrome-type-1-col2a1\/#%E3%81%AF%E3%81%98%E3%82%81%E3%81%AB%EF%BC%9A%E3%81%AA%E3%81%9C%E3%80%8C%E9%9D%9E%E5%AE%9A%E5%9E%8B%E3%80%8D%E3%81%A8%E5%91%BC%E3%81%B0%E3%82%8C%E3%82%8B%E3%81%AE%E3%81%8B\" >\u306f\u3058\u3081\u306b\uff1a\u306a\u305c\u300c\u975e\u5b9a\u578b\u300d\u3068\u547c\u3070\u308c\u308b\u306e\u304b<\/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\/atypical-stickler-syndrome-type-1-col2a1\/#1_%E5%8E%9F%E5%9B%A0%EF%BC%9ACOL2A1%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%A8%E3%82%A8%E3%82%AF%E3%82%BD%E3%83%B32%E5%A4%89%E7%95%B0%E3%81%AE%E3%81%97%E3%81%8F%E3%81%BF\" >1. \u539f\u56e0\uff1aCOL2A1\u907a\u4f1d\u5b50\u3068\u30a8\u30af\u30bd\u30f32\u5909\u7570\u306e\u3057\u304f\u307f<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/atypical-stickler-syndrome-type-1-col2a1\/#2%E5%9E%8B%E3%82%B3%E3%83%A9%E3%83%BC%E3%82%B2%E3%83%B3%E3%81%AEIIA%E5%9E%8B%E3%81%A8IIB%E5%9E%8B\" >2\u578b\u30b3\u30e9\u30fc\u30b2\u30f3\u306eIIA\u578b\u3068IIB\u578b<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/atypical-stickler-syndrome-type-1-col2a1\/#%E3%82%A8%E3%82%AF%E3%82%BD%E3%83%B32%E5%A4%89%E7%95%B0%E3%81%8C%E6%8B%9B%E3%81%8F%E3%80%8C%E7%9C%BC%E9%99%90%E5%B1%80%E5%9E%8B%E3%80%8D\" >\u30a8\u30af\u30bd\u30f32\u5909\u7570\u304c\u62db\u304f\u300c\u773c\u9650\u5c40\u578b\u300d<\/a><\/li><\/ul><\/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\/atypical-stickler-syndrome-type-1-col2a1\/#2_%E5%85%B8%E5%9E%8B%E5%9E%8B1%E5%9E%8B%E3%81%A8%E3%81%AE%E9%81%95%E3%81%84%EF%BC%88%E8%A1%A8%E3%81%A7%E6%95%B4%E7%90%86%EF%BC%89\" >2. \u5178\u578b\u578b1\u578b\u3068\u306e\u9055\u3044\uff08\u8868\u3067\u6574\u7406\uff09<\/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\/atypical-stickler-syndrome-type-1-col2a1\/#3_%E7%97%87%E7%8A%B6%EF%BC%9A%E9%9D%9E%E5%AE%9A%E5%9E%8B%E3%81%AB%E8%A6%8B%E3%82%89%E3%82%8C%E3%82%8B%E3%83%90%E3%83%AA%E3%82%A8%E3%83%BC%E3%82%B7%E3%83%A7%E3%83%B3\" >3. \u75c7\u72b6\uff1a\u975e\u5b9a\u578b\u306b\u898b\u3089\u308c\u308b\u30d0\u30ea\u30a8\u30fc\u30b7\u30e7\u30f3<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/atypical-stickler-syndrome-type-1-col2a1\/#%E2%91%A0_%E7%9C%BC%E9%99%90%E5%B1%80%E5%9E%8B%EF%BC%88ocular-only%EF%BC%89%E3%81%AE%E7%97%87%E7%8A%B6\" >\u2460 \u773c\u9650\u5c40\u578b\uff08ocular-only\uff09\u306e\u75c7\u72b6<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/atypical-stickler-syndrome-type-1-col2a1\/#%E2%91%A1_%E6%95%99%E7%A7%91%E6%9B%B8%E3%81%AB%E3%81%AA%E3%81%84%E7%B3%BB%E7%B5%B1%E7%97%87%E7%8A%B6%E3%82%92%E4%BC%B4%E3%81%86%E9%9D%9E%E5%AE%9A%E5%9E%8B%E4%BE%8B\" >\u2461 \u6559\u79d1\u66f8\u306b\u306a\u3044\u7cfb\u7d71\u75c7\u72b6\u3092\u4f34\u3046\u975e\u5b9a\u578b\u4f8b<\/a><\/li><\/ul><\/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\/atypical-stickler-syndrome-type-1-col2a1\/#4_%E8%A8%BA%E6%96%AD%EF%BC%9A%E3%81%AA%E3%81%9C%E8%A6%8B%E9%80%83%E3%81%95%E3%82%8C%E3%82%84%E3%81%99%E3%81%84%E3%81%AE%E3%81%8B\" >4. \u8a3a\u65ad\uff1a\u306a\u305c\u898b\u9003\u3055\u308c\u3084\u3059\u3044\u306e\u304b<\/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\/atypical-stickler-syndrome-type-1-col2a1\/#%E8%87%A8%E5%BA%8A%E8%A8%BA%E6%96%AD%E5%9F%BA%E6%BA%96%E3%81%AE%E9%99%90%E7%95%8C\" >\u81e8\u5e8a\u8a3a\u65ad\u57fa\u6e96\u306e\u9650\u754c<\/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\/atypical-stickler-syndrome-type-1-col2a1\/#%E9%81%BA%E4%BC%9D%E5%AD%A6%E7%9A%84%E6%A4%9C%E6%9F%BB%EF%BC%88%E7%A2%BA%E5%AE%9A%E8%A8%BA%E6%96%AD%EF%BC%89\" >\u907a\u4f1d\u5b66\u7684\u691c\u67fb\uff08\u78ba\u5b9a\u8a3a\u65ad\uff09<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-13\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/atypical-stickler-syndrome-type-1-col2a1\/#5_%E9%81%BA%E4%BC%9D%E5%BD%A2%E5%BC%8F%E3%81%A8%E6%AC%A1%E3%81%AE%E3%81%8A%E5%AD%90%E6%A7%98%E3%81%B8%E3%81%AE%E5%BD%B1%E9%9F%BF\" >5. \u907a\u4f1d\u5f62\u5f0f\u3068\u6b21\u306e\u304a\u5b50\u69d8\u3078\u306e\u5f71\u97ff<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/atypical-stickler-syndrome-type-1-col2a1\/#6_%E6%B2%BB%E7%99%82%E3%81%A8%E3%83%9E%E3%83%8D%E3%82%B8%E3%83%A1%E3%83%B3%E3%83%88%EF%BC%9A%E9%A0%98%E5%9F%9F%E3%81%94%E3%81%A8%E3%81%AE%E5%80%8B%E5%88%A5%E5%AF%BE%E5%BF%9C\" >6. \u6cbb\u7642\u3068\u30de\u30cd\u30b8\u30e1\u30f3\u30c8\uff1a\u9818\u57df\u3054\u3068\u306e\u500b\u5225\u5bfe\u5fdc<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-15\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/atypical-stickler-syndrome-type-1-col2a1\/#%E7%9C%BC%E7%A7%91%E7%9A%84%E7%AE%A1%E7%90%86%EF%BC%88%E6%9C%80%E5%84%AA%E5%85%88%E4%BA%8B%E9%A0%85%EF%BC%89\" >\u773c\u79d1\u7684\u7ba1\u7406\uff08\u6700\u512a\u5148\u4e8b\u9805\uff09<\/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\/atypical-stickler-syndrome-type-1-col2a1\/#%E7%B3%BB%E7%B5%B1%E7%97%87%E7%8A%B6%E3%82%92%E4%BC%B4%E3%81%86%E5%A0%B4%E5%90%88%E3%81%AE%E5%AF%BE%E5%BF%9C\" >\u7cfb\u7d71\u75c7\u72b6\u3092\u4f34\u3046\u5834\u5408\u306e\u5bfe\u5fdc<\/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\/atypical-stickler-syndrome-type-1-col2a1\/#7_%E4%BA%88%E5%BE%8C%E3%81%A8%E3%83%A9%E3%82%A4%E3%83%95%E3%83%97%E3%83%A9%E3%83%B3%E3%83%8B%E3%83%B3%E3%82%B0\" >7. \u4e88\u5f8c\u3068\u30e9\u30a4\u30d5\u30d7\u30e9\u30f3\u30cb\u30f3\u30b0<\/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\/atypical-stickler-syndrome-type-1-col2a1\/#8_%E5%A6%8A%E5%A8%A0%E4%B8%AD%E3%81%AENIPT%E3%81%A8%E3%81%AE%E9%96%A2%E4%BF%82\" >8. \u598a\u5a20\u4e2d\u306eNIPT\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-19\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/atypical-stickler-syndrome-type-1-col2a1\/#9_%E3%81%94%E5%AE%B6%E6%97%8F%E3%81%B8%E3%81%AE%E3%83%A1%E3%83%83%E3%82%BB%E3%83%BC%E3%82%B8\" >9. \u3054\u5bb6\u65cf\u3078\u306e\u30e1\u30c3\u30bb\u30fc\u30b8<\/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\/atypical-stickler-syndrome-type-1-col2a1\/#%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-21\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/atypical-stickler-syndrome-type-1-col2a1\/#%E3%80%8C%E9%9D%9E%E5%AE%9A%E5%9E%8B%E3%82%B9%E3%83%86%E3%82%A3%E3%83%83%E3%82%AF%E3%83%A9%E3%83%BC%E7%97%87%E5%80%99%E7%BE%A41%E5%9E%8B%E3%80%8D%E3%81%A8%E3%80%8C%E3%82%B9%E3%83%86%E3%82%A3%E3%83%83%E3%82%AF%E3%83%A9%E3%83%BC%E7%97%87%E5%80%99%E7%BE%A41%E5%9E%8B%E3%80%8D%E3%81%AF%E9%81%95%E3%81%86%E7%97%85%E6%B0%97%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\" >\u300c\u975e\u5b9a\u578b\u30b9\u30c6\u30a3\u30c3\u30af\u30e9\u30fc\u75c7\u5019\u7fa41\u578b\u300d\u3068\u300c\u30b9\u30c6\u30a3\u30c3\u30af\u30e9\u30fc\u75c7\u5019\u7fa41\u578b\u300d\u306f\u9055\u3046\u75c5\u6c17\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-22\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/atypical-stickler-syndrome-type-1-col2a1\/#%E9%9D%9E%E5%AE%9A%E5%9E%8B%E3%81%AE%E3%81%AA%E3%81%8B%E3%81%A7%E3%82%82%E3%80%8C%E7%9C%BC%E9%99%90%E5%B1%80%E5%9E%8B%E3%80%8D%E3%81%A8%E3%81%AF%E4%BD%95%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\" >\u975e\u5b9a\u578b\u306e\u306a\u304b\u3067\u3082\u300c\u773c\u9650\u5c40\u578b\u300d\u3068\u306f\u4f55\u3067\u3059\u304b\u3002<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-23\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/atypical-stickler-syndrome-type-1-col2a1\/#%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E6%A4%9C%E6%9F%BB%E3%81%A7%E8%A8%BA%E6%96%AD%E3%81%95%E3%82%8C%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >\u3069\u306e\u3088\u3046\u306a\u691c\u67fb\u3067\u8a3a\u65ad\u3055\u308c\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-24\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/atypical-stickler-syndrome-type-1-col2a1\/#%E5%AD%90%E3%81%A9%E3%82%82%E3%81%AB%E9%81%BA%E4%BC%9D%E3%81%97%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >\u5b50\u3069\u3082\u306b\u907a\u4f1d\u3057\u307e\u3059\u304b\u3002<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-25\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/atypical-stickler-syndrome-type-1-col2a1\/#%E5%A6%8A%E5%A8%A0%E4%B8%AD%E3%81%AENIPT%E3%81%A7%E3%81%93%E3%81%AE%E7%97%85%E6%B0%97%E3%81%AF%E3%82%8F%E3%81%8B%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >\u598a\u5a20\u4e2d\u306eNIPT\u3067\u3053\u306e\u75c5\u6c17\u306f\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-26\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/atypical-stickler-syndrome-type-1-col2a1\/#%E3%82%B9%E3%83%86%E3%82%A3%E3%83%83%E3%82%AF%E3%83%A9%E3%83%BC%E7%97%87%E5%80%99%E7%BE%A4%E3%81%AF%E6%8C%87%E5%AE%9A%E9%9B%A3%E7%97%85%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\" >\u30b9\u30c6\u30a3\u30c3\u30af\u30e9\u30fc\u75c7\u5019\u7fa4\u306f\u6307\u5b9a\u96e3\u75c5\u3067\u3059\u304b\u3002<\/a><\/li><\/ul><\/li><\/ul><\/nav><\/div>\n<h2 style=\"margin-top:1rem;\"><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>\n<li>\u300c\u975e\u5b9a\u578b\u300d\u3068\u306f\u4f55\u3092\u6307\u3059\u306e\u304b\u3002\u5178\u578b\u7684\u306a\u30b9\u30c6\u30a3\u30c3\u30af\u30e9\u30fc\u75c7\u5019\u7fa41\u578b\u3068\u306e\u5177\u4f53\u7684\u306a\u9055\u3044<\/li>\n<li>COL2A1\u907a\u4f1d\u5b50\u30a8\u30af\u30bd\u30f32\u306e\u5909\u5316\u304c\u5f15\u304d\u8d77\u3053\u3059\u300c\u773c\u9650\u5c40\u578b\u300d\u306e\u7279\u5fb4\u3068\u3001\u306a\u305c\u898b\u9003\u3055\u308c\u3084\u3059\u3044\u306e\u304b<\/li>\n<li>\u540c\u30581\u578b\u3067\u3082\u75c7\u72b6\u306e\u51fa\u65b9\u306b\u5927\u304d\u306a\u5e45\u304c\u3042\u308b\u7406\u7531\uff08\u8868\u73fe\u5ea6\u306e\u591a\u69d8\u6027\uff09<\/li>\n<li>\u598a\u5a20\u4e2d\u306eNIPT\u3067\u3053\u306e\u75be\u60a3\u304c\u3069\u3053\u307e\u3067\u308f\u304b\u308b\u306e\u304b\u3001\u78ba\u5b9a\u8a3a\u65ad\u3068\u306e\u95a2\u4fc2<\/li>\n<\/ul>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%AF%E3%81%98%E3%82%81%E3%81%AB%EF%BC%9A%E3%81%AA%E3%81%9C%E3%80%8C%E9%9D%9E%E5%AE%9A%E5%9E%8B%E3%80%8D%E3%81%A8%E5%91%BC%E3%81%B0%E3%82%8C%E3%82%8B%E3%81%AE%E3%81%8B\"><\/span><strong>\u306f\u3058\u3081\u306b\uff1a\u306a\u305c\u300c\u975e\u5b9a\u578b\u300d\u3068\u547c\u3070\u308c\u308b\u306e\u304b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u691c\u67fb\u7d50\u679c\u3084\u7d39\u4ecb\u72b6\u306b\u300c\u975e\u5b9a\u578b\u30b9\u30c6\u30a3\u30c3\u30af\u30e9\u30fc\u75c7\u5019\u7fa4\u300d\u3068\u66f8\u304b\u308c\u3066\u3044\u3066\u3001\u6238\u60d1\u3063\u3066\u3044\u308b\u65b9\u3082\u3044\u308b\u3067\u3057\u3087\u3046\u3002\u30b9\u30c6\u30a3\u30c3\u30af\u30e9\u30fc\u75c7\u5019\u7fa41\u578b\u305d\u306e\u3082\u306e\u306b\u3064\u3044\u3066\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/stickler-syndrome-type1-guide\/\">\u30b9\u30c6\u30a3\u30c3\u30af\u30e9\u30fc\u75c7\u5019\u7fa41\u578b\u306e\u57fa\u790e\u89e3\u8aac\u8a18\u4e8b<\/a>\u3067\u539f\u56e0\u30fb\u75c7\u72b6\u30fb\u8a3a\u65ad\u306e\u5168\u4f53\u50cf\u3092\u89e3\u8aac\u3057\u3066\u3044\u307e\u3059\u3002\u672c\u8a18\u4e8b\u306f\u305d\u306e\u4e2d\u3067\u3082\u3001\u6559\u79d1\u66f8\u7684\u306a\u75c7\u72b6\u306e\u305d\u308d\u3044\u65b9\u304b\u3089\u5916\u308c\u308b\u300c\u975e\u5b9a\u578b\u300d\u306e\u8868\u73fe\u578b\u306b\u7684\u3092\u3057\u307c\u3063\u3066\u6398\u308a\u4e0b\u3052\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u30b9\u30c6\u30a3\u30c3\u30af\u30e9\u30fc\u75c7\u5019\u7fa4\u306f\u672c\u6765\u3001\u773c\u306e\u9ad8\u5ea6\u8fd1\u8996\u30fb\u7db2\u819c\u5265\u96e2\u3001\u96e3\u8074\u3001\u53e3\u84cb\u88c2\u3084\u5c0f\u984e\u75c7\u3001\u82e5\u5e74\u6027\u306e\u5909\u5f62\u6027\u95a2\u7bc0\u75c7\u3068\u3044\u30464\u3064\u306e\u9818\u57df\u306b\u75c7\u72b6\u304c\u73fe\u308c\u308b\u75c5\u6c17\u3067\u3059\u3002\u3068\u3053\u308d\u304c\u540c\u3058COL2A1\u907a\u4f1d\u5b50\u306e\u5909\u5316\u3067\u3082\u3001\u75c7\u72b6\u306e\u73fe\u308c\u308b\u9818\u57df\u3084\u91cd\u3055\u306f\u5bb6\u7cfb\u3054\u3068\u3001\u6642\u306b\u306f\u540c\u3058\u5bb6\u65cf\u306e\u4e2d\u3067\u3082\u5927\u304d\u304f\u7570\u306a\u308a\u307e\u3059\u3002\u3053\u306e\u5e45\u5e83\u3055\u3053\u305d\u304c\u300c\u975e\u5b9a\u578b\u300d\u3068\u3044\u3046\u547c\u3073\u65b9\u304c\u751f\u307e\u308c\u305f\u7406\u7531\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E5%8E%9F%E5%9B%A0%EF%BC%9ACOL2A1%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%A8%E3%82%A8%E3%82%AF%E3%82%BD%E3%83%B32%E5%A4%89%E7%95%B0%E3%81%AE%E3%81%97%E3%81%8F%E3%81%BF\"><\/span><strong>1. \u539f\u56e0\uff1aCOL2A1\u907a\u4f1d\u5b50\u3068\u30a8\u30af\u30bd\u30f32\u5909\u7570\u306e\u3057\u304f\u307f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u975e\u5b9a\u578b\u30b9\u30c6\u30a3\u30c3\u30af\u30e9\u30fc\u75c7\u5019\u7fa41\u578b\u3082\u3001\u539f\u56e0\u306e\u6839\u672c\u306f\u5178\u578b\u578b\u3068\u540c\u3058\u304fCOL2A1\u907a\u4f1d\u5b50\u306e\u5909\u5316\u3067\u3059\u3002\u305f\u3060\u3057\u5909\u5316\u306e\u300c\u5834\u6240\u300d\u306b\u3088\u3063\u3066\u3001\u51fa\u3066\u304f\u308b\u75c7\u72b6\u306e\u7bc4\u56f2\u304c\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=\"2%E5%9E%8B%E3%82%B3%E3%83%A9%E3%83%BC%E3%82%B2%E3%83%B3%E3%81%AEIIA%E5%9E%8B%E3%81%A8IIB%E5%9E%8B\"><\/span><strong>2\u578b\u30b3\u30e9\u30fc\u30b2\u30f3\u306eIIA\u578b\u3068IIB\u578b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>COL2A1\u907a\u4f1d\u5b50\u304b\u3089\u4f5c\u3089\u308c\u308b\u30e1\u30c3\u30bb\u30f3\u30b8\u30e3\u30fcRNA\u306f\u3001\u30a8\u30af\u30bd\u30f32\u3092\u542b\u3080\u304b\u3069\u3046\u304b\u30672\u7a2e\u985e\u306b\u9078\u629e\u7684\u30b9\u30d7\u30e9\u30a4\u30b7\u30f3\u30b0\u3055\u308c\u307e\u3059\u3002\u30a8\u30af\u30bd\u30f32\u3092\u542b\u3080\u300cIIA\u578b\u300d\u306f\u4e3b\u306b\u773c\u306e\u785d\u5b50\u4f53\u3067\u3001\u30a8\u30af\u30bd\u30f32\u3092\u542b\u307e\u306a\u3044\u300cIIB\u578b\u300d\u306f\u4e3b\u306b\u8edf\u9aa8\u3067\u4f5c\u3089\u308c\u308b\u30bf\u30f3\u30d1\u30af\u8cea\u3067\u3059\u3002\u3053\u306e\u4f7f\u3044\u5206\u3051\u304c\u3001\u975e\u5b9a\u578b\u306e\u8868\u73fe\u578b\u3092\u7406\u89e3\u3059\u308b\u3046\u3048\u3067\u306e\u9375\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%82%A8%E3%82%AF%E3%82%BD%E3%83%B32%E5%A4%89%E7%95%B0%E3%81%8C%E6%8B%9B%E3%81%8F%E3%80%8C%E7%9C%BC%E9%99%90%E5%B1%80%E5%9E%8B%E3%80%8D\"><\/span><strong>\u30a8\u30af\u30bd\u30f32\u5909\u7570\u304c\u62db\u304f\u300c\u773c\u9650\u5c40\u578b\u300d<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u7c73\u56fd\u306e\u7814\u7a76\u30b0\u30eb\u30fc\u30d7\uff08McAlinden\u3089\u306e\u5831\u544a\u30012008\u5e74\uff09\u306f\u3001COL2A1\u907a\u4f1d\u5b50\u306e\u30a8\u30af\u30bd\u30f32\u306b\u751f\u3058\u308b\u30df\u30b9\u30bb\u30f3\u30b9\u5909\u7570\u30fb\u30ca\u30f3\u30bb\u30f3\u30b9\u5909\u7570\u304c\u3001\u773c\u306e\u75c7\u72b6\u3060\u3051\u304c\u969b\u7acb\u3064\u300c\u773c\u9650\u5c40\u578b\uff08ocular-only\uff09\u30b9\u30c6\u30a3\u30c3\u30af\u30e9\u30fc\u75c7\u5019\u7fa4\u300d\u306e\u539f\u56e0\u3067\u3042\u308b\u3068\u5831\u544a\u3057\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u5909\u7570\u306f\u8edf\u9aa8\u3067\u4f7f\u308f\u308c\u308bIIB\u578b\u306b\u306f\u307b\u3068\u3093\u3069\u5f71\u97ff\u3057\u307e\u305b\u3093\u3002\u305d\u306e\u305f\u3081\u95a2\u7bc0\u3084\u9aa8\u683c\u306b\u306f\u76ee\u7acb\u3063\u305f\u5909\u5316\u304c\u51fa\u306b\u304f\u304f\u3001\u9854\u8c8c\u3084\u53e3\u84cb\u88c2\u3082\u307b\u307c\u751f\u3058\u307e\u305b\u3093\u3002\u4e00\u65b9\u3067\u785d\u5b50\u4f53\u306eIIA\u578b\u306b\u306f\u5f37\u304f\u5f71\u97ff\u3057\u307e\u3059\u3002\u7d50\u679c\u3068\u3057\u3066\u3001\u5149\u5b66\u7684\u306b\u7a7a\u6d1e\u5316\u3057\u305f\u785d\u5b50\u4f53\u3001\u7db2\u819c\u5468\u56f2\u306e\u8272\u7d20\u6c88\u7740\u3001\u65e9\u671f\u767a\u75c7\u306e\u7db2\u819c\u5265\u96e2\u3068\u3044\u3046\u773c\u6240\u898b\u3060\u3051\u304c\u8272\u6fc3\u304f\u6b8b\u308a\u307e\u3059\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E5%85%B8%E5%9E%8B%E5%9E%8B1%E5%9E%8B%E3%81%A8%E3%81%AE%E9%81%95%E3%81%84%EF%BC%88%E8%A1%A8%E3%81%A7%E6%95%B4%E7%90%86%EF%BC%89\"><\/span><strong>2. \u5178\u578b\u578b1\u578b\u3068\u306e\u9055\u3044\uff08\u8868\u3067\u6574\u7406\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u540c\u3058COL2A1\u907a\u4f1d\u5b50\u306e\u5909\u5316\u3067\u3082\u3001\u5909\u7570\u306e\u5834\u6240\u306b\u3088\u3063\u3066\u75c7\u72b6\u306e\u51fa\u65b9\u304c\u3053\u3053\u307e\u3067\u5909\u308f\u308a\u307e\u3059\u3002\u4ee3\u8868\u7684\u306a2\u30d1\u30bf\u30fc\u30f3\u3092\u8868\u306b\u307e\u3068\u3081\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<figure class=\"wp-block-table\"><table class=\"has-fixed-layout\"><thead><tr><th>\u6bd4\u8f03\u9805\u76ee<\/th><th>\u5178\u578b\u578b\u30b9\u30c6\u30a3\u30c3\u30af\u30e9\u30fc\u75c7\u5019\u7fa41\u578b<\/th><th>\u975e\u5b9a\u578b\u30fb\u773c\u9650\u5c40\u578b\uff08\u30a8\u30af\u30bd\u30f32\u5909\u7570\uff09<\/th><\/tr><\/thead><tbody><tr><td>\u5909\u7570\u306e\u5834\u6240<\/td><td>COL2A1\u907a\u4f1d\u5b50\u5168\u57df\uff08\u591a\u304f\u306f\u30cf\u30d7\u30ed\u4e0d\u5168\u578b\uff09<\/td><td>COL2A1\u907a\u4f1d\u5b50\u306e\u30a8\u30af\u30bd\u30f32\u306b\u9650\u5c40<\/td><\/tr><tr><td>\u773c\u75c7\u72b6<\/td><td>\u9ad8\u5ea6\u8fd1\u8996\u30fb\u819c\u72b6\u785d\u5b50\u4f53\u5909\u6027\u30fb\u7db2\u819c\u5265\u96e2<\/td><td>\u5149\u5b66\u7684\u306b\u7a7a\u306e\u785d\u5b50\u4f53\u30fb\u7db2\u819c\u5265\u96e2\u30ea\u30b9\u30af\u306f\u540c\u69d8\u306b\u9ad8\u3044<\/td><\/tr><tr><td>\u9854\u8c8c\u30fb\u53e3\u84cb\u88c2<\/td><td>\u5c0f\u984e\u75c7\u3001\u30d4\u30a8\u30fc\u30eb\u30fb\u30ed\u30d0\u30f3\u9023\u9396\u3001\u53e3\u84cb\u88c2\u304c\u9ad8\u983b\u5ea6<\/td><td>\u307b\u3068\u3093\u3069\u3001\u307e\u305f\u306f\u5168\u304f\u898b\u3089\u308c\u306a\u3044<\/td><\/tr><tr><td>\u96e3\u8074<\/td><td>\u4f1d\u97f3\u6027\u30fb\u611f\u97f3\u6027\u96e3\u8074\u304c\u591a\u3044<\/td><td>\u8efd\u5fae\u3001\u307e\u305f\u306f\u8a8d\u3081\u3089\u308c\u306a\u3044\u3053\u3068\u304c\u591a\u3044<\/td><\/tr><tr><td>\u95a2\u7bc0\u30fb\u9aa8\u683c<\/td><td>\u82e5\u5e74\u6027\u5909\u5f62\u6027\u95a2\u7bc0\u75c7\u3001\u95a2\u7bc0\u5f1b\u7de9\u6027<\/td><td>\u76ee\u7acb\u3063\u305f\u7570\u5e38\u304c\u4e4f\u3057\u3044<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<p>\u3072\u3068\u3053\u3068\u3067\u8a00\u3048\u3070\u3001\u5178\u578b\u578b\u306f\u300c\u5168\u8eab\u578b\u300d\u3001\u975e\u5b9a\u578b\u30fb\u773c\u9650\u5c40\u578b\u306f\u300c\u773c\u3060\u3051\u306b\u75c7\u72b6\u304c\u96c6\u4e2d\u3059\u308b\u30bf\u30a4\u30d7\u300d\u3002\u305f\u3060\u3057\u3053\u308c\u306f\u4ee3\u8868\u7684\u306a2\u30d1\u30bf\u30fc\u30f3\u306b\u3059\u304e\u305a\u3001\u5b9f\u969b\u306b\u306f\u4e21\u8005\u306e\u4e2d\u9593\u306b\u3042\u305f\u308b\u75c7\u4f8b\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/stickler-syndrome-type1-guide\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u30b9\u30c6\u30a3\u30c3\u30af\u30e9\u30fc\u75c7\u5019\u7fa4 1\u578b <\/div>\n          <div class=\"blog-card-excerpt\">\u30b9\u30c6\u30a3\u30c3\u30af\u30e9\u30fc\u75c7\u5019\u7fa41\u578b\uff08Stickler syndrome type I\uff09\u3068\u8a3a\u65ad\u3055\u308c\u305f\u3054\u5bb6\u65cf\u3078\u3002\u5f37\u5ea6\u8fd1\u8996\u3084\u7db2\u819c\u5265\u96e2\u306e\u30ea\u30b9\u30af\u3001\u53e3\u84cb\u88c2\u3001\u95a2\u7bc0\u75c7...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n    <a href=\"\/nipt\/stickler-syndrome-type2-guide\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u30b9\u30c6\u30a3\u30c3\u30af\u30e9\u30fc\u75c7\u5019\u7fa4 2\u578b <\/div>\n          <div class=\"blog-card-excerpt\">\u30b9\u30c6\u30a3\u30c3\u30af\u30e9\u30fc\u75c7\u5019\u7fa42\u578b\uff08Stickler syndrome type II\uff09\u3068\u8a3a\u65ad\u3055\u308c\u305f\u3054\u5bb6\u65cf\u3078\u3002\u539f\u56e0\u3068\u306a\u308bCOL11A1\u907a\u4f1d\u5b50\u30011\u578b\u3068\u306e...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E7%97%87%E7%8A%B6%EF%BC%9A%E9%9D%9E%E5%AE%9A%E5%9E%8B%E3%81%AB%E8%A6%8B%E3%82%89%E3%82%8C%E3%82%8B%E3%83%90%E3%83%AA%E3%82%A8%E3%83%BC%E3%82%B7%E3%83%A7%E3%83%B3\"><\/span><strong>3. \u75c7\u72b6\uff1a\u975e\u5b9a\u578b\u306b\u898b\u3089\u308c\u308b\u30d0\u30ea\u30a8\u30fc\u30b7\u30e7\u30f3<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u975e\u5b9a\u578b\u30b9\u30c6\u30a3\u30c3\u30af\u30e9\u30fc\u75c7\u5019\u7fa41\u578b\u306e\u75c7\u72b6\u306f\u3001\u5927\u304d\u304f2\u3064\u306e\u30d1\u30bf\u30fc\u30f3\u3067\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=\"%E2%91%A0_%E7%9C%BC%E9%99%90%E5%B1%80%E5%9E%8B%EF%BC%88ocular-only%EF%BC%89%E3%81%AE%E7%97%87%E7%8A%B6\"><\/span><strong>\u2460 \u773c\u9650\u5c40\u578b\uff08ocular-only\uff09\u306e\u75c7\u72b6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5149\u5b66\u7684\u306b\u7a7a\u306e\u785d\u5b50\u4f53:<\/strong> \u773c\u5e95\u691c\u67fb\u3067\u785d\u5b50\u4f53\u304c\u30bc\u30ea\u30fc\u72b6\u306b\u6e80\u3061\u3066\u304a\u3089\u305a\u3001\u7a7a\u6d1e\u5316\u3057\u3066\u898b\u3048\u308b\u6240\u898b\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7db2\u819c\u5468\u56f2\u306e\u8272\u7d20\u6c88\u7740:<\/strong> \u7db2\u819c\u306e\u5468\u8fba\u90e8\u306b\u7279\u5fb4\u7684\u306a\u8272\u7d20\u5909\u5316\u304c\u751f\u3058\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u65e9\u671f\u767a\u75c7\u306e\u7db2\u819c\u5265\u96e2:<\/strong> \u5168\u8eab\u75c7\u72b6\u304c\u306a\u3044\u3076\u3093\u898b\u904e\u3054\u3055\u308c\u3084\u3059\u304f\u3001\u5265\u96e2\u304c\u9032\u3093\u3067\u304b\u3089\u767a\u898b\u3055\u308c\u308b\u30b1\u30fc\u30b9\u304c\u5c11\u306a\u304f\u3042\u308a\u307e\u305b\u3093\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A1_%E6%95%99%E7%A7%91%E6%9B%B8%E3%81%AB%E3%81%AA%E3%81%84%E7%B3%BB%E7%B5%B1%E7%97%87%E7%8A%B6%E3%82%92%E4%BC%B4%E3%81%86%E9%9D%9E%E5%AE%9A%E5%9E%8B%E4%BE%8B\"><\/span><strong>\u2461 \u6559\u79d1\u66f8\u306b\u306a\u3044\u7cfb\u7d71\u75c7\u72b6\u3092\u4f34\u3046\u975e\u5b9a\u578b\u4f8b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u773c\u9650\u5c40\u578b\u3068\u306f\u9006\u306b\u3001\u3053\u308c\u307e\u3067\u5831\u544a\u3055\u308c\u3066\u3053\u306a\u304b\u3063\u305f\u5168\u8eab\u75c7\u72b6\u3092\u4f75\u305b\u6301\u3064\u975e\u5b9a\u578b\u4f8b\u3082\u5b58\u5728\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u30a4\u30f3\u30c9\u306e\u7814\u7a76\u30b0\u30eb\u30fc\u30d7\u304c\u5831\u544a\u3057\u305f7\u6b73\u7537\u5150\u306e\u75c7\u4f8b\uff08\u30a8\u30af\u30bd\u30f341\u306ec.2710C&gt;T\u3001p.Arg904Cys\u5909\u7570\uff09\u3067\u3059\u3002-3SD\u4ee5\u4e0b\u306e\u4f4e\u8eab\u9577\u3001\u3076\u3069\u3046\u819c\u708e\u3001\u773c\u77bc\u4e0b\u5782\u3068\u3044\u30463\u3064\u306e\u6240\u898b\u304c\u78ba\u8a8d\u3055\u308c\u307e\u3057\u305f\u3002\u3044\u305a\u308c\u3082\u5f93\u6765\u306e\u30b9\u30c6\u30a3\u30c3\u30af\u30e9\u30fc\u75c7\u5019\u7fa41\u578b\u3067\u306f\u901a\u5e38\u8a18\u8f09\u3055\u308c\u306a\u3044\u75c7\u72b6\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75c7\u4f8b\u306f\u3001\u975e\u5b9a\u578b\u3068\u3044\u3046\u8a00\u8449\u304c\u5358\u306b\u300c\u75c7\u72b6\u304c\u5c11\u306a\u3044\u300d\u3053\u3068\u3060\u3051\u3092\u610f\u5473\u3059\u308b\u306e\u3067\u306f\u306a\u304f\u3001\u300c\u60f3\u5b9a\u5916\u306e\u75c7\u72b6\u304c\u52a0\u308f\u308b\u300d\u30b1\u30fc\u30b9\u3082\u542b\u3080\u3053\u3068\u3092\u793a\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2026\/01\/24295109_s.webp\" alt=\"\u773c\u79d1\u3067\u306e\u5b9a\u671f\u691c\u67fb\u3092\u53d7\u3051\u308b\u69d8\u5b50\u306e\u30a4\u30e1\u30fc\u30b8\" class=\"wp-image-121600\"\/><\/figure><\/div>\n\n\n<p>\u79c1\u81ea\u8eab\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u4e2d\u3067\u300c\u95a2\u7bc0\u3082\u8033\u3082\u4f55\u3082\u75c7\u72b6\u304c\u306a\u3044\u306e\u306b\u3001\u306a\u305c\u30b9\u30c6\u30a3\u30c3\u30af\u30e9\u30fc\u75c7\u5019\u7fa4\u3068\u8a00\u308f\u308c\u305f\u306e\u304b\u300d\u3068\u6238\u60d1\u3046\u4fdd\u8b77\u8005\u306e\u65b9\u306b\u51fa\u4f1a\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u975e\u5b9a\u578b\u3068\u3044\u3046\u8a3a\u65ad\u540d\u3092\u521d\u3081\u3066\u805e\u3044\u305f\u3068\u304d\u306e\u6238\u60d1\u3044\u306f\u3001\u6c7a\u3057\u3066\u73cd\u3057\u3044\u53cd\u5fdc\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E8%A8%BA%E6%96%AD%EF%BC%9A%E3%81%AA%E3%81%9C%E8%A6%8B%E9%80%83%E3%81%95%E3%82%8C%E3%82%84%E3%81%99%E3%81%84%E3%81%AE%E3%81%8B\"><\/span><strong>4. \u8a3a\u65ad\uff1a\u306a\u305c\u898b\u9003\u3055\u308c\u3084\u3059\u3044\u306e\u304b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u975e\u5b9a\u578b\u30b9\u30c6\u30a3\u30c3\u30af\u30e9\u30fc\u75c7\u5019\u7fa41\u578b\u306f\u3001\u5f93\u6765\u306e\u81e8\u5e8a\u8a3a\u65ad\u57fa\u6e96\u3060\u3051\u3067\u306f\u6b63\u3057\u304f\u62fe\u3044\u4e0a\u3052\u3089\u308c\u306a\u3044\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%87%A8%E5%BA%8A%E8%A8%BA%E6%96%AD%E5%9F%BA%E6%BA%96%E3%81%AE%E9%99%90%E7%95%8C\"><\/span><strong>\u81e8\u5e8a\u8a3a\u65ad\u57fa\u6e96\u306e\u9650\u754c<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u4e00\u822c\u7684\u306a\u8a3a\u65ad\u57fa\u6e96\u306f\u3001\u773c\u30fb\u8033\u30fb\u53e3\u84cb\u30fb\u95a2\u7bc0\u306e\u30b9\u30b3\u30a2\u30ea\u30f3\u30b0\u3092\u7d44\u307f\u5408\u308f\u305b\u3066\u5224\u5b9a\u3057\u307e\u3059\u3002\u3068\u3053\u308d\u304c\u773c\u9650\u5c40\u578b\u306e\u3088\u3046\u306b\u3001\u773c\u4ee5\u5916\u306e\u9805\u76ee\u304c\u3059\u3079\u3066\u30bc\u30ed\u306b\u8fd1\u3044\u5834\u5408\u3001\u57fa\u6e96\u3092\u6e80\u305f\u3055\u305a\u898b\u9003\u3055\u308c\u3066\u3057\u307e\u3046\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002\u539f\u56e0\u4e0d\u660e\u306e\u7db2\u819c\u5265\u96e2\u3092\u7e70\u308a\u8fd4\u3059\u5bb6\u7cfb\u3068\u3057\u3066\u9577\u5e74\u6271\u308f\u308c\u3066\u304d\u305f\u4f8b\u3082\u3001\u5b9f\u969b\u306b\u306f\u907a\u4f1d\u5b50\u89e3\u6790\u3067\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=\"%E9%81%BA%E4%BC%9D%E5%AD%A6%E7%9A%84%E6%A4%9C%E6%9F%BB%EF%BC%88%E7%A2%BA%E5%AE%9A%E8%A8%BA%E6%96%AD%EF%BC%89\"><\/span><strong>\u907a\u4f1d\u5b66\u7684\u691c\u67fb\uff08\u78ba\u5b9a\u8a3a\u65ad\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u78ba\u5b9a\u8a3a\u65ad\u306b\u306f\u3001COL2A1\u907a\u4f1d\u5b50\u306e\u30d1\u30cd\u30eb\u691c\u67fb\u30fb\u5168\u30a8\u30af\u30bd\u30f3\u89e3\u6790\u304c\u7528\u3044\u3089\u308c\u307e\u3059\u3002\u7279\u306b\u975e\u5b9a\u578b\u4f8b\u3092\u7591\u3046\u5834\u5408\u306f\u3001\u901a\u5e38\u306e\u89e3\u6790\u3067\u898b\u843d\u3068\u3055\u308c\u3084\u3059\u3044\u30a8\u30af\u30bd\u30f32\u9818\u57df\u3092\u542b\u3081\u3066\u78ba\u8a8d\u3059\u308b\u3053\u3068\u304c\u6b20\u304b\u305b\u307e\u305b\u3093\u3002\u7db2\u819c\u5265\u96e2\u3092\u7e70\u308a\u8fd4\u3059\u60a3\u8005\u69d8\u3084\u3054\u5bb6\u65cf\u306b\u306f\u3001\u773c\u79d1\u7684\u306a\u7d4c\u904e\u89b3\u5bdf\u306b\u52a0\u3048\u3066\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u3092\u691c\u8a0e\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"5_%E9%81%BA%E4%BC%9D%E5%BD%A2%E5%BC%8F%E3%81%A8%E6%AC%A1%E3%81%AE%E3%81%8A%E5%AD%90%E6%A7%98%E3%81%B8%E3%81%AE%E5%BD%B1%E9%9F%BF\"><\/span><strong>5. \u907a\u4f1d\u5f62\u5f0f\u3068\u6b21\u306e\u304a\u5b50\u69d8\u3078\u306e\u5f71\u97ff<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u975e\u5b9a\u578b\u30b9\u30c6\u30a3\u30c3\u30af\u30e9\u30fc\u75c7\u5019\u7fa41\u578b\u3082\u3001\u5178\u578b\u578b\u3068\u540c\u3058\u304f<strong>\u5e38\u67d3\u8272\u4f53\u9855\u6027\u907a\u4f1d<\/strong>\u306e\u5f62\u5f0f\u3092\u3068\u308a\u307e\u3059\u3002\u89aa\u306e\u3069\u3061\u3089\u304b\u304c\u539f\u56e0\u3068\u306a\u308b\u5909\u5316\u3092\u6301\u3064\u5834\u5408\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/testing\/#anchor_sex\">\u6027\u5225<\/a>\u3092\u554f\u308f\u305a<strong>\u7d042\u5206\u306e1\u306e\u78ba\u7387<\/strong>\u3067\u5b50\u306b\u53d7\u3051\u7d99\u304c\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4e00\u65b9\u3067\u3001\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u75c7\u4f8b\u306e\u591a\u304f\u306f\u4e21\u89aa\u306b\u898b\u3089\u308c\u306a\u3044\u65b0\u898f\u306e\u5909\u5316\uff08\u30c7\u30ce\u30dc\uff09\u3067\u3059\u3002\u4e21\u89aa\u306e\u691c\u67fb\u7d50\u679c\u306b\u7570\u5e38\u304c\u306a\u304f\u3066\u3082\u3001\u751f\u6b96\u7d30\u80de<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mosaicism\/\">\u30e2\u30b6\u30a4\u30af<\/a>\u306b\u3088\u308a\u6b21\u306e\u304a\u5b50\u69d8\u306b\u540c\u69d8\u306e\u5909\u5316\u304c\u751f\u3058\u308b\u53ef\u80fd\u6027\u306f\u30bc\u30ed\u306b\u306f\u3067\u304d\u307e\u305b\u3093\u3002\u6b21\u306e\u304a\u5b50\u69d8\u3078\u306e\u5f71\u97ff\u304c\u3069\u306e\u7a0b\u5ea6\u304b\u306f\u3001<a href=\"https:\/\/www.jshg.jp\/about\/license\/\" target=\"_blank\" rel=\"noopener\">\u81e8\u5e8a\u907a\u4f1d\u5c02\u9580\u533b\u3084\u8a8d\u5b9a\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc<\/a>\u306b\u3088\u308b\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u500b\u5225\u306b\u78ba\u8a8d\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"6_%E6%B2%BB%E7%99%82%E3%81%A8%E3%83%9E%E3%83%8D%E3%82%B8%E3%83%A1%E3%83%B3%E3%83%88%EF%BC%9A%E9%A0%98%E5%9F%9F%E3%81%94%E3%81%A8%E3%81%AE%E5%80%8B%E5%88%A5%E5%AF%BE%E5%BF%9C\"><\/span><strong>6. \u6cbb\u7642\u3068\u30de\u30cd\u30b8\u30e1\u30f3\u30c8\uff1a\u9818\u57df\u3054\u3068\u306e\u500b\u5225\u5bfe\u5fdc<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u975e\u5b9a\u578b\u4f8b\u3067\u3082\u3001\u539f\u56e0\u907a\u4f1d\u5b50\u305d\u306e\u3082\u306e\u3092\u4fee\u5fa9\u3059\u308b\u6839\u672c\u6cbb\u7642\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u7ba1\u7406\u306e\u8981\u70b9\u306f\u3001\u5b9f\u969b\u306b\u51fa\u3066\u3044\u308b\u75c7\u72b6\u306b\u5fdc\u3058\u3066\u5bfe\u5fdc\u7bc4\u56f2\u3092\u3057\u307c\u308a\u8fbc\u3080\u3053\u3068\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%9C%BC%E7%A7%91%E7%9A%84%E7%AE%A1%E7%90%86%EF%BC%88%E6%9C%80%E5%84%AA%E5%85%88%E4%BA%8B%E9%A0%85%EF%BC%89\"><\/span><strong>\u773c\u79d1\u7684\u7ba1\u7406\uff08\u6700\u512a\u5148\u4e8b\u9805\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4e88\u9632\u7684\u5149\u51dd\u56fa\u8853:<\/strong> \u7db2\u819c\u306e\u5f31\u3044\u90e8\u5206\u3092\u30ec\u30fc\u30b6\u30fc\u3067\u88dc\u5f37\u3059\u308b\u3001\u7db2\u819c\u5265\u96e2\u306e\u4e88\u9632\u51e6\u7f6e\u3002<\/li>\n\n\n\n<li><strong>\u5b9a\u671f\u7684\u306a\u773c\u5e95\u691c\u67fb:<\/strong> \u5168\u8eab\u75c7\u72b6\u304c\u306a\u3044\u975e\u5b9a\u578b\u4f8b\u307b\u3069\u3001\u773c\u79d1\u7684\u30d5\u30a9\u30ed\u30fc\u304c\u552f\u4e00\u306e\u624b\u304c\u304b\u308a\u306b\u306a\u308a\u307e\u3059\u3002\u81ea\u899a\u75c7\u72b6\u306e\u6709\u7121\u306b\u304b\u304b\u308f\u3089\u305a\u7d99\u7d9a\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/li>\n\n\n\n<li><strong>\u30b3\u30f3\u30bf\u30af\u30c8\u30b9\u30dd\u30fc\u30c4\u306e\u5236\u9650:<\/strong> \u982d\u90e8\u306b\u5f37\u3044\u885d\u6483\u304c\u53ca\u3076\u7af6\u6280\u306f\u3001\u7db2\u819c\u5265\u96e2\u306e\u30ea\u30b9\u30af\u3092\u9ad8\u3081\u308b\u305f\u3081\u907f\u3051\u3066\u304f\u3060\u3055\u3044\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%B3%BB%E7%B5%B1%E7%97%87%E7%8A%B6%E3%82%92%E4%BC%B4%E3%81%86%E5%A0%B4%E5%90%88%E3%81%AE%E5%AF%BE%E5%BF%9C\"><\/span><strong>\u7cfb\u7d71\u75c7\u72b6\u3092\u4f34\u3046\u5834\u5408\u306e\u5bfe\u5fdc<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u4f4e\u8eab\u9577\u3084\u3076\u3069\u3046\u819c\u708e\u3001\u96e3\u8074\u3068\u3044\u3063\u305f\u75c7\u72b6\u3092\u4f34\u3046\u975e\u5b9a\u578b\u4f8b\u3067\u306f\u3001\u305d\u308c\u305e\u308c\u5c0f\u5150\u5185\u5206\u6ccc\u79d1\u30fb\u773c\u79d1\u30fb\u8033\u9f3b\u79d1\u306b\u3088\u308b\u500b\u5225\u306e\u7ba1\u7406\u304c\u5fc5\u8981\u3067\u3059\u3002\u75c7\u72b6\u306e\u305d\u308d\u3044\u65b9\u304c\u5b9a\u578b\u7684\u3067\u306a\u3044\u3076\u3093\u3001\u8907\u6570\u306e\u5c02\u9580\u533b\u304c\u60c5\u5831\u3092\u5171\u6709\u3057\u306a\u304c\u3089\u8a3a\u7642\u306b\u3042\u305f\u308b\u4f53\u5236\u304c\u671b\u307e\u3057\u3044\u3068\u3044\u3048\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"7_%E4%BA%88%E5%BE%8C%E3%81%A8%E3%83%A9%E3%82%A4%E3%83%95%E3%83%97%E3%83%A9%E3%83%B3%E3%83%8B%E3%83%B3%E3%82%B0\"><\/span><strong>7. \u4e88\u5f8c\u3068\u30e9\u30a4\u30d5\u30d7\u30e9\u30f3\u30cb\u30f3\u30b0<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u975e\u5b9a\u578b\u30b9\u30c6\u30a3\u30c3\u30af\u30e9\u30fc\u75c7\u5019\u7fa41\u578b\u306e\u60a3\u8005\u69d8\u306e\u591a\u304f\u306f\u3001\u773c\u79d1\u7684\u306a\u5408\u4f75\u75c7\u3092\u9069\u5207\u306b\u7ba1\u7406\u3067\u304d\u308c\u3070\u3001\u65e5\u5e38\u751f\u6d3b\u3084\u5b66\u696d\u30fb\u5c31\u52b4\u306b\u5927\u304d\u306a\u5236\u9650\u3092\u53d7\u3051\u305a\u306b\u904e\u3054\u3057\u3066\u3044\u307e\u3059\u3002\u7279\u306b\u773c\u9650\u5c40\u578b\u306f\u3001\u95a2\u7bc0\u3084\u8074\u899a\u306e\u554f\u984c\u3092\u4f34\u3044\u307e\u305b\u3093\u3002\u751f\u6d3b\u4e0a\u306e\u56f0\u308a\u3054\u3068\u304c\u773c\u306e\u30b1\u30a2\u306b\u96c6\u4e2d\u3059\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u305f\u3060\u3057\u3001\u975e\u5b9a\u578b\u3068\u3044\u3046\u5206\u985e\u81ea\u4f53\u304c\u307e\u3060\u75c7\u4f8b\u306e\u84c4\u7a4d\u304c\u5c11\u306a\u3044\u6bb5\u968e\u306b\u3042\u308a\u307e\u3059\u3002\u6210\u4eba\u671f\u4ee5\u964d\u306e\u9577\u671f\u7d4c\u904e\u306b\u3064\u3044\u3066\u306f\u3001\u4eca\u5f8c\u306e\u8ffd\u8de1\u8abf\u67fb\u3092\u5f85\u3064\u90e8\u5206\u3082\u6b8b\u3063\u3066\u3044\u307e\u3059\u3002\u5b9a\u671f\u901a\u9662\u3092\u7d9a\u3051\u3001\u305d\u306e\u6642\u3005\u306e\u72b6\u614b\u306b\u5408\u308f\u305b\u305f\u7ba1\u7406\u3092\u7d99\u7d9a\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"8_%E5%A6%8A%E5%A8%A0%E4%B8%AD%E3%81%AENIPT%E3%81%A8%E3%81%AE%E9%96%A2%E4%BF%82\"><\/span><strong>8. \u598a\u5a20\u4e2d\u306eNIPT\u3068\u306e\u95a2\u4fc2<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u975e\u5b9a\u578b\u30b9\u30c6\u30a3\u30c3\u30af\u30e9\u30fc\u75c7\u5019\u7fa41\u578b\u306f\u3001COL2A1\u3068\u3044\u3046\u4e00\u3064\u306e\u907a\u4f1d\u5b50\u306e\u5909\u5316\u306b\u3088\u3063\u3066\u8d77\u3053\u308b<strong>\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u3067\u3059\u3002<\/strong>NIPT\u306e\u57fa\u672c\u691c\u67fb\u3067\u8abf\u3079\u308b21\u30fb18\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/patau-syndrome\/\">13\u30c8\u30ea\u30bd\u30df\u30fc<\/a>\u306a\u3069\u306e\u67d3\u8272\u4f53\u6570\u306e\u7570\u5e38\u3068\u306f\u3001\u691c\u51fa\u306e\u4ed5\u7d44\u307f\u304c\u307e\u3063\u305f\u304f\u7570\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u307e\u3067\u5bfe\u8c61\u7bc4\u56f2\u3092\u5e83\u3052\u305f\u62e1\u5927NIPT\u306e\u30d7\u30e9\u30f3\u304c\u3042\u308a\u307e\u3059\u3002\u30d7\u30e9\u30f3\u306b\u3088\u3063\u3066\u306f\u3001COL2A1\u3092\u542b\u3080\u6570\u767e\u7a2e\u985e\u306e\u907a\u4f1d\u5b50\u3092\u5bfe\u8c61\u3068\u3059\u308b\u691c\u67fb\u9805\u76ee\u304c\u7528\u610f\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u305f\u3060\u3057\u3001\u5bfe\u5fdc\u3059\u308b\u75be\u60a3\u306e\u7bc4\u56f2\u3084\u89e3\u6790\u611f\u5ea6\u306f\u691c\u67fb\u65bd\u8a2d\u30fb\u30d7\u30e9\u30f3\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u3054\u81ea\u8eab\u304c\u691c\u8a0e\u3057\u3066\u3044\u308b\u691c\u67fb\u30d7\u30e9\u30f3\u304cCOL2A1\u95a2\u9023\u75be\u60a3\u307e\u3067\u5bfe\u8c61\u306b\u542b\u3080\u304b\u3069\u3046\u304b\u306f\u3001\u691c\u67fb\u3092\u53d7\u3051\u308b\u65bd\u8a2d\u306b\u76f4\u63a5\u554f\u3044\u5408\u308f\u305b\u3066\u78ba\u8a8d\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/strong><\/p>\n\n\n\n<p>\u3082\u3046\u4e00\u3064\u77e5\u3063\u3066\u304a\u3044\u3066\u3044\u305f\u3060\u304d\u305f\u3044\u306e\u306f\u3001<strong>NIPT\u306f\u3042\u304f\u307e\u3067\u975e\u78ba\u5b9a\u7684\u306a\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u691c\u67fb\u3060\u3068\u3044\u3046\u70b9\u3067\u3059\u3002<\/strong>\u967d\u6027\u6240\u898b\u3084\u6c17\u306b\u306a\u308b\u7d50\u679c\u304c\u51fa\u305f\u5834\u5408\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u306a\u3069\u306b\u3088\u308b\u78ba\u5b9a\u691c\u67fb\u3067\u8a3a\u65ad\u3092\u56fa\u3081\u308b\u6d41\u308c\u306b\u306a\u308a\u307e\u3059\u3002\u7279\u306b\u975e\u5b9a\u578b\u4f8b\u306f\u81e8\u5e8a\u8a3a\u65ad\u57fa\u6e96\u3060\u3051\u3067\u306f\u898b\u9003\u3055\u308c\u3084\u3059\u3044\u305f\u3081\u3001\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u306b\u3088\u308b\u78ba\u5b9a\u304c\u4e00\u6bb5\u3068\u91cd\u8981\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4eca\u56de\u3001\u3053\u306e\u75be\u60a3\u306b\u3064\u3044\u3066\u56fd\u5185\u306e\u5b9f\u4f53\u9a13\u306b\u57fa\u3065\u304f\u6295\u7a3f\u3092X\uff08\u65e7Twitter\uff09\u3067\u63a2\u3057\u307e\u3057\u305f\u304c\u3001\u76f4\u8fd1\u306e\u6295\u7a3f\u3067\u306f\u898b\u5f53\u305f\u308a\u307e\u305b\u3093\u3067\u3057\u305f\u3002\u5e0c\u5c11\u75be\u60a3\u3067\u3042\u308b\u305f\u3081\u4e00\u6b21\u60c5\u5831\u304c\u4e4f\u3057\u3044\u306e\u306f\u81ea\u7136\u306a\u3053\u3068\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u672c\u8a18\u4e8b\u3067\u306f\u4ee3\u308f\u308a\u306b\u3001McAlinden\u3089\uff082008\u5e74\uff09\u306e\u5b66\u8853\u8ad6\u6587\u3068\u3001GeneReviews\u30fbOrphanet\u306a\u3069\u56fd\u5185\u5916\u306e\u516c\u7684\u60c5\u5831\u3092\u6839\u62e0\u3068\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<div class=\"wp-block-buttons is-content-justification-center is-layout-flex wp-container-core-buttons-is-layout-16018d1d wp-block-buttons-is-layout-flex\">\n<div class=\"wp-block-button\"><a class=\"wp-block-button__link wp-element-button\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/plan-finder\/\" target=\"_blank\" rel=\"noopener\">\u30d7\u30e9\u30f3\u8a3a\u65ad\u3067\u81ea\u5206\u306b\u5408\u3046\u691c\u67fb\u3092\u63a2\u3059<\/a><\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"9_%E3%81%94%E5%AE%B6%E6%97%8F%E3%81%B8%E3%81%AE%E3%83%A1%E3%83%83%E3%82%BB%E3%83%BC%E3%82%B8\"><\/span><strong>9. \u3054\u5bb6\u65cf\u3078\u306e\u30e1\u30c3\u30bb\u30fc\u30b8<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u300c\u975e\u5b9a\u578b\u300d\u3068\u3044\u3046\u8a3a\u65ad\u540d\u3060\u3051\u3092\u898b\u3066\u3001\u6f20\u7136\u3068\u3057\u305f\u4e0d\u5b89\u3092\u62b1\u3048\u3066\u3044\u308b\u65b9\u3082\u3044\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002\u3067\u3059\u304c\u975e\u5b9a\u578b\u30b9\u30c6\u30a3\u30c3\u30af\u30e9\u30fc\u75c7\u5019\u7fa41\u578b\u306f\u3001\u5178\u578b\u578b\u306e\u3088\u3046\u306a\u5168\u8eab\u578b\u3068\u306f\u7d4c\u904e\u304c\u7570\u306a\u308a\u307e\u3059\u3002\u5b9f\u969b\u306b\u51fa\u3066\u3044\u308b\u75c7\u72b6\u306b\u5fdc\u3058\u305f\u7ba1\u7406\u3092\u7d9a\u3051\u308b\u3053\u3068\u3067\u3001\u591a\u304f\u306e\u65b9\u304c\u5b89\u5b9a\u3057\u305f\u751f\u6d3b\u3092\u9001\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u773c\u9650\u5c40\u578b\u306e\u3088\u3046\u306b\u75c7\u72b6\u304c\u773c\u3060\u3051\u306b\u96c6\u4e2d\u3059\u308b\u5834\u5408\u3001\u4ed6\u306e\u79d1\u3067\u306f\u300c\u7279\u306b\u554f\u984c\u306a\u3057\u300d\u3068\u8a00\u308f\u308c\u308b\u3053\u3068\u3082\u73cd\u3057\u304f\u3042\u308a\u307e\u305b\u3093\u3002\u3060\u304b\u3089\u3053\u305d\u3001\u773c\u79d1\u7684\u306a\u30d5\u30a9\u30ed\u30fc\u3060\u3051\u306f\u81ea\u5df1\u5224\u65ad\u3067\u4e2d\u65ad\u305b\u305a\u3001\u7d9a\u3051\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<p>\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u73fe\u5834\u3067\u306f\u3001\u300c\u95a2\u7bc0\u3082\u8033\u3082\u6b63\u5e38\u306a\u306e\u306b\u672c\u5f53\u306b\u30b9\u30c6\u30a3\u30c3\u30af\u30e9\u30fc\u75c7\u5019\u7fa4\u306a\u306e\u304b\u300d\u3068\u3044\u3046\u3054\u76f8\u8ac7\u3092\u4f55\u5ea6\u3082\u53d7\u3051\u3066\u304d\u307e\u3057\u305f\u3002\u6559\u79d1\u66f8\u3069\u304a\u308a\u306b\u75c7\u72b6\u304c\u305d\u308d\u308f\u306a\u3044\u75c5\u6c17\u304c\u3042\u308b\u3068\u3044\u3046\u306e\u304c\u5b9f\u611f\u3067\u3059\u3002\u3072\u3068\u308a\u3067\u62b1\u3048\u8fbc\u307e\u305a\u3001\u5c02\u9580\u5bb6\u306b\u76f8\u8ac7\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/kniest-dysplasia-guide\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u30af\u30cb\u30a8\u30b9\u30c8\u7570\u5f62\u6210\u75c7\uff08Kniest Dysplasia\uff09 <\/div>\n          <div class=\"blog-card-excerpt\">\u30af\u30cb\u30a8\u30b9\u30c8\u7570\u5f62\u6210\u75c7\u3068\u8a3a\u65ad\u3055\u308c\u305f\u65b9\u3001\u3054\u5bb6\u65cf\u3078\u3002COL2A1\u907a\u4f1d\u5b50\u5909\u7570\u306b\u3088\u308b\u3053\u306e\u75c5\u6c17\u306e\u7279\u5fb4\u3001\u80cc\u9aa8\u3084\u95a2\u7bc0\u306e\u5909\u5316\u3001\u7db2\u819c\u5265\u96e2\u306a\u3069\u306e\u76ee\u306e\u30ea\u30b9\u30af\u3001\u53e3\u84cb\u88c2\u3001...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n    <a href=\"\/nipt\/sed-congenita-guide\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u5148\u5929\u6027\u810a\u690e\u9aa8\u7aef\u7570\u5f62\u6210\u75c7\uff08SEDC\uff09 <\/div>\n          <div class=\"blog-card-excerpt\">\u5148\u5929\u6027\u810a\u690e\u9aa8\u7aef\u7570\u5f62\u6210\u75c7\uff08SEDC\uff09\u3068\u8a3a\u65ad\u3055\u308c\u305f\u3054\u5bb6\u65cf\u3078\u3002\u4f4e\u8eab\u9577\u3084\u80cc\u9aa8\u30fb\u80a1\u95a2\u7bc0\u306e\u7279\u5fb4\u3001\u7db2\u819c\u5265\u96e2\u306e\u30ea\u30b9\u30af\u3001COL2A1\u907a\u4f1d\u5b50\u306e\u539f\u56e0\u3001\u74b0\u8ef8\u690e\u4e9c\u8131\u81fc...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n\n\n\n<div class=\"wp-block-buttons is-content-justification-center is-layout-flex wp-container-core-buttons-is-layout-16018d1d wp-block-buttons-is-layout-flex\">\n<div class=\"wp-block-button\"><a class=\"wp-block-button__link wp-element-button\" href=\"https:\/\/mypage-nipt-reservation.hiro-clinic.or.jp\/registration\" target=\"_blank\" rel=\"noopener\">NIPT\u306e\u4e88\u7d04\u306f\u3053\u3061\u3089<\/a><\/div>\n\n\n\n<div class=\"wp-block-button is-style-outline is-style-outline--1\"><a class=\"wp-block-button__link wp-element-button\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/line-registration\/\" target=\"_blank\" rel=\"noopener\">LINE\u3067\u7121\u6599\u76f8\u8ac7\u3059\u308b<\/a><\/div>\n<\/div>\n\n\n\n<p>\u304a\u96fb\u8a71\u3067\u306e\u3054\u76f8\u8ac7\u3082\u53d7\u3051\u4ed8\u3051\u3066\u3044\u307e\u3059\u3002<a href=\"tel:0120169629\">0120-169-629<\/a>\u307e\u3067\u304a\u6c17\u8efd\u306b\u304a\u554f\u3044\u5408\u308f\u305b\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><strong>\u3088\u304f\u3042\u308b\u8cea\u554f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%80%8C%E9%9D%9E%E5%AE%9A%E5%9E%8B%E3%82%B9%E3%83%86%E3%82%A3%E3%83%83%E3%82%AF%E3%83%A9%E3%83%BC%E7%97%87%E5%80%99%E7%BE%A41%E5%9E%8B%E3%80%8D%E3%81%A8%E3%80%8C%E3%82%B9%E3%83%86%E3%82%A3%E3%83%83%E3%82%AF%E3%83%A9%E3%83%BC%E7%97%87%E5%80%99%E7%BE%A41%E5%9E%8B%E3%80%8D%E3%81%AF%E9%81%95%E3%81%86%E7%97%85%E6%B0%97%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u300c\u975e\u5b9a\u578b\u30b9\u30c6\u30a3\u30c3\u30af\u30e9\u30fc\u75c7\u5019\u7fa41\u578b\u300d\u3068\u300c\u30b9\u30c6\u30a3\u30c3\u30af\u30e9\u30fc\u75c7\u5019\u7fa41\u578b\u300d\u306f\u9055\u3046\u75c5\u6c17\u3067\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u540c\u3058COL2A1\u907a\u4f1d\u5b50\u306e\u5909\u5316\u304c\u539f\u56e0\u3067\u3059\u304c\u3001\u5909\u7570\u306e\u5834\u6240\u306b\u3088\u3063\u3066\u75c7\u72b6\u306e\u51fa\u65b9\u304c\u5927\u304d\u304f\u7570\u306a\u308a\u307e\u3059\u3002\u5178\u578b\u578b\u306f\u773c\u30fb\u8033\u30fb\u53e3\u84cb\u30fb\u95a2\u7bc0\u306b\u5e83\u304f\u75c7\u72b6\u304c\u51fa\u308b\u306e\u306b\u5bfe\u3057\u3001\u975e\u5b9a\u578b\u306f\u305d\u306e\u4e00\u90e8\u3060\u3051\u304c\u73fe\u308c\u305f\u308a\u3001\u901a\u5e38\u8a18\u8f09\u3055\u308c\u306a\u3044\u75c7\u72b6\u3092\u4f34\u3063\u305f\u308a\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%9D%9E%E5%AE%9A%E5%9E%8B%E3%81%AE%E3%81%AA%E3%81%8B%E3%81%A7%E3%82%82%E3%80%8C%E7%9C%BC%E9%99%90%E5%B1%80%E5%9E%8B%E3%80%8D%E3%81%A8%E3%81%AF%E4%BD%95%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u975e\u5b9a\u578b\u306e\u306a\u304b\u3067\u3082\u300c\u773c\u9650\u5c40\u578b\u300d\u3068\u306f\u4f55\u3067\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>COL2A1\u907a\u4f1d\u5b50\u306e\u30a8\u30af\u30bd\u30f32\u306b\u5909\u5316\u304c\u751f\u3058\u308b\u3053\u3068\u3067\u8d77\u3053\u308b\u30bf\u30a4\u30d7\u3067\u3059\u3002\u785d\u5b50\u4f53\u3067\u4f7f\u308f\u308c\u308bIIA\u578b\u306e\u30b3\u30e9\u30fc\u30b2\u30f3\u3060\u3051\u306b\u5f71\u97ff\u304c\u51fa\u307e\u3059\u3002\u7db2\u819c\u5265\u96e2\u306e\u30ea\u30b9\u30af\u306f\u9ad8\u3044\u307e\u307e\u3001\u53e3\u84cb\u88c2\u3084\u96e3\u8074\u3001\u95a2\u7bc0\u75c7\u72b6\u306f\u307b\u3068\u3093\u3069\u3001\u307e\u305f\u306f\u5168\u304f\u73fe\u308c\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h3 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id=\"%E5%AD%90%E3%81%A9%E3%82%82%E3%81%AB%E9%81%BA%E4%BC%9D%E3%81%97%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u5b50\u3069\u3082\u306b\u907a\u4f1d\u3057\u307e\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5e38\u67d3\u8272\u4f53\u9855\u6027\u907a\u4f1d\u306e\u305f\u3081\u3001\u89aa\u304c\u539f\u56e0\u3068\u306a\u308b\u5909\u5316\u3092\u6301\u3064\u5834\u5408\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/testing\/#anchor_sex\">\u6027\u5225<\/a>\u3092\u554f\u308f\u305a\u7d042\u5206\u306e1\u306e\u78ba\u7387\u3067\u5b50\u306b\u4f1d\u308f\u308a\u307e\u3059\u3002\u305f\u3060\u3057\u5831\u544a\u4f8b\u306e\u591a\u304f\u306f\u4e21\u89aa\u306b\u898b\u3089\u308c\u306a\u3044\u65b0\u898f\u306e\u5909\u5316\u3067\u3001\u307e\u308c\u306b\u751f\u6b96\u7d30\u80de<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mosaicism\/\">\u30e2\u30b6\u30a4\u30af<\/a>\u306b\u3088\u308a\u5b50\u306b\u4f1d\u308f\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u8a73\u3057\u304f\u306f\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u78ba\u8a8d\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%A6%8A%E5%A8%A0%E4%B8%AD%E3%81%AENIPT%E3%81%A7%E3%81%93%E3%81%AE%E7%97%85%E6%B0%97%E3%81%AF%E3%82%8F%E3%81%8B%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u598a\u5a20\u4e2d\u306eNIPT\u3067\u3053\u306e\u75c5\u6c17\u306f\u308f\u304b\u308a\u307e\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>21\u30fb18\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/patau-syndrome\/\">13\u30c8\u30ea\u30bd\u30df\u30fc<\/a>\u306a\u3069\u306e\u57fa\u672c\u691c\u67fb\u306e\u5bfe\u8c61\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u307e\u3067\u5bfe\u8c61\u3092\u5e83\u3052\u305f\u62e1\u5927NIPT\u306e\u30d7\u30e9\u30f3\u3067\u306f\u3001COL2A1\u3092\u542b\u3080\u691c\u67fb\u9805\u76ee\u304c\u3042\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u5bfe\u5fdc\u7bc4\u56f2\u306f\u65bd\u8a2d\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u307e\u3059\u3002\u967d\u6027\u6240\u898b\u304c\u51fa\u305f\u5834\u5408\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u306a\u3069\u306b\u3088\u308b\u78ba\u5b9a\u691c\u67fb\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%82%B9%E3%83%86%E3%82%A3%E3%83%83%E3%82%AF%E3%83%A9%E3%83%BC%E7%97%87%E5%80%99%E7%BE%A4%E3%81%AF%E6%8C%87%E5%AE%9A%E9%9B%A3%E7%97%85%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u30b9\u30c6\u30a3\u30c3\u30af\u30e9\u30fc\u75c7\u5019\u7fa4\u306f\u6307\u5b9a\u96e3\u75c5\u3067\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>2026\u5e74\u73fe\u5728\u3001\u56fd\u5185\u306e\u6307\u5b9a\u96e3\u75c5\u30ea\u30b9\u30c8\u306b\u306f\u542b\u307e\u308c\u3066\u3044\u307e\u305b\u3093\u3002\u533b\u7642\u8cbb\u52a9\u6210\u3084\u7642\u80b2\u652f\u63f4\u306e\u5236\u5ea6\u306b\u3064\u3044\u3066\u306f\u3001\u4e3b\u6cbb\u533b\u3084\u304a\u4f4f\u307e\u3044\u306e\u81ea\u6cbb\u4f53\u306e\u7a93\u53e3\u306b\u78ba\u8a8d\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<p style=\"font-size:0.9em;color:#555;\"><strong>\u76e3\u4fee\uff1a\u5ca1 \u535a\u53f2\uff08\u304a\u304b \u3072\u308d\u3057\uff09<\/strong>\uff0f\u533b\u7642\u6cd5\u4eba\u793e\u56e3\u798f\u7f8e\u4f1a 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\"21\u30fb18\u30fb13\u30c8\u30ea\u30bd\u30df\u30fc\u306a\u3069\u306e\u57fa\u672c\u691c\u67fb\u306e\u5bfe\u8c61\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u307e\u3067\u5bfe\u8c61\u3092\u5e83\u3052\u305f\u62e1\u5927NIPT\u306e\u30d7\u30e9\u30f3\u3067\u306f\u3001COL2A1\u3092\u542b\u3080\u691c\u67fb\u9805\u76ee\u304c\u3042\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u5bfe\u5fdc\u7bc4\u56f2\u306f\u65bd\u8a2d\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u307e\u3059\u3002\u967d\u6027\u6240\u898b\u304c\u51fa\u305f\u5834\u5408\u306f\u7f8a\u6c34\u691c\u67fb\u306a\u3069\u306b\u3088\u308b\u78ba\u5b9a\u691c\u67fb\u304c\u5fc5\u8981\u3067\u3059\u3002\"\n      }\n    },\n    {\n      \"@type\": \"Question\",\n      \"name\": \"\u30b9\u30c6\u30a3\u30c3\u30af\u30e9\u30fc\u75c7\u5019\u7fa4\u306f\u6307\u5b9a\u96e3\u75c5\u3067\u3059\u304b\u3002\",\n      \"acceptedAnswer\": {\n        \"@type\": \"Answer\",\n        \"text\": \"2026\u5e74\u73fe\u5728\u3001\u56fd\u5185\u306e\u6307\u5b9a\u96e3\u75c5\u30ea\u30b9\u30c8\u306b\u306f\u542b\u307e\u308c\u3066\u3044\u307e\u305b\u3093\u3002\u533b\u7642\u8cbb\u52a9\u6210\u3084\u7642\u80b2\u652f\u63f4\u306e\u5236\u5ea6\u306b\u3064\u3044\u3066\u306f\u3001\u4e3b\u6cbb\u533b\u3084\u304a\u4f4f\u307e\u3044\u306e\u81ea\u6cbb\u4f53\u306e\u7a93\u53e3\u306b\u78ba\u8a8d\u3057\u3066\u304f\u3060\u3055\u3044\u3002\"\n      }\n    }\n  ]\n}\n<\/script>\n\n\n<p style=\"font-size:0.85em;color:#777;\">\u53c2\u8003\u60c5\u5831\uff1a<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1302\/\" target=\"_blank\" rel=\"noopener\">Stickler Syndrome\uff5cGeneReviews\uff08NCBI Bookshelf\uff09<\/a>\uff0f<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/17721977\/\" target=\"_blank\" rel=\"noopener\">COL2A1\u907a\u4f1d\u5b50\u30a8\u30af\u30bd\u30f32\u5909\u7570\u3068\u773c\u9650\u5c40\u578b\u30b9\u30c6\u30a3\u30c3\u30af\u30e9\u30fc\u75c7\u5019\u7fa4\u306b\u95a2\u3059\u308b\u5831\u544a\uff08McAlinden\u3089\u30012008\u5e74\uff09\uff5cPubMed\uff08\u7c73\u56fd\u56fd\u7acb\u533b\u5b66\u56f3\u66f8\u9928\uff09<\/a>\uff0f<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC5149639\/\" target=\"_blank\" rel=\"noopener\">\u4f4e\u8eab\u9577\u3068\u3076\u3069\u3046\u819c\u708e\u3092\u4f34\u3046\u975e\u5b9a\u578b\u30b9\u30c6\u30a3\u30c3\u30af\u30e9\u30fc\u75c7\u5019\u7fa41\u578b\u306e\u75c7\u4f8b\u5831\u544a\uff5cPMC\uff08\u7c73\u56fd\u56fd\u7acb\u533b\u5b66\u56f3\u66f8\u9928\uff09<\/a>\uff0f<a href=\"https:\/\/www.orpha.net\/consor\/cgi-bin\/OC_Exp.php?lng=en&#038;Expert=90653\" target=\"_blank\" rel=\"noopener\">Stickler syndrome type 1\uff5cOrphanet<\/a>\uff0f<a href=\"https:\/\/www.jshg.jp\/about\/license\/\" target=\"_blank\" rel=\"noopener\">\u8cc7\u683c\u8a8d\u5b9a\uff08\u81e8\u5e8a\u907a\u4f1d\u5c02\u9580\u533b\u30fb\u8a8d\u5b9a\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\uff09\uff5c\u65e5\u672c\u4eba\u985e\u907a\u4f1d\u5b66\u4f1a<\/a><\/p>\n\n","protected":false},"excerpt":{"rendered":"\u975e\u5b9a\u578b\u30b9\u30c6\u30a3\u30c3\u30af\u30e9\u30fc\u75c7\u5019\u7fa41\u578b\u306fCOL2A1\u907a\u4f1d\u5b50\u306e\u5909\u5316\u306b\u3088\u308b\u75be\u60a3\u3067\u3059\u3002\u30a8\u30af\u30bd\u30f32\u5909\u7570\u306b\u3088\u308b\u773c\u9650\u5c40\u578b\u306a\u3069\u5178\u578b\u578b\u3068\u306e\u9055\u3044\u30fb\u75c7\u72b6\u30fb\u8a3a\u65ad\u30fb\u598a\u5a20\u4e2d\u306eNIPT\u3068\u306e\u95a2\u4fc2\u3092\u89e3\u8aac\u3057\u307e\u3059\u3002","protected":false},"author":122,"featured_media":119511,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[1392],"tags":[],"class_list":["post-122503","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-1392"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/122503","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/users\/122"}],"replies":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/comments?post=122503"}],"version-history":[{"count":3,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/122503\/revisions"}],"predecessor-version":[{"id":134170,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/122503\/revisions\/134170"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/119511"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=122503"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=122503"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=122503"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}