{"id":121742,"date":"2026-01-07T16:42:26","date_gmt":"2026-01-07T07:42:26","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=121742"},"modified":"2026-07-23T05:48:49","modified_gmt":"2026-07-22T20:48:49","slug":"trps2-langer-giedion-syndrome","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/trps2-langer-giedion-syndrome\/","title":{"rendered":"\u6bdb\u9aea\u30fb\u9f3b\u30fb\u6307\u7bc0\u75c7\u5019\u7fa4II\u578b\uff08TRPS2\uff09"},"content":{"rendered":"\n<div style=\"border:solid #ffe6e6 0.8rem;background-color: #fff9f9;padding:3% 5%;margin:1rem 0 3rem;\"><h2 style=\"margin-top:1rem;\">\u3053\u306e\u8a18\u4e8b\u306e\u307e\u3068\u3081<\/h2><p><strong>TRPS2\uff08\u6bdb\u9aea\u30fb\u9f3b\u30fb\u6307\u7bc0\u75c7\u5019\u7fa4II\u578b\uff0f\u30e9\u30f3\u30ac\u30fc\u30fb\u30ae\u30c7\u30aa\u30f3\u75c7\u5019\u7fa4\uff09\u306f\u3001\u975e\u5e38\u306b\u307e\u308c\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002<\/strong>\u7b2c8\u756a\u67d3\u8272\u4f53\u306b\u3042\u308bTRPS1\u30fbRAD21\u30fbEXT1\u3068\u3044\u30463\u3064\u306e\u907a\u4f1d\u5b50\u304c\u9023\u7d9a\u3057\u3066\u5931\u308f\u308c\u308b\u3053\u3068\u3067\u8d77\u3053\u308a\u307e\u3059\u3002\u7279\u5fb4\u7684\u306a\u9854\u7acb\u3061\u3084\u6bdb\u9aea\u3001\u6307\u306e\u9aa8\u306e\u5909\u5316\u306b\u52a0\u3048\u3001\u591a\u767a\u6027\u5916\u9aa8\u816b\u3068\u767a\u9054\u306e\u9045\u308c\u3092\u4f34\u3046\u70b9\u304c\u3001\u8fd1\u3044\u4ef2\u9593\u306eI\u578b\uff08TRPS1\uff09\u3068\u7570\u306a\u308a\u307e\u3059\u3002\u307b\u3068\u3093\u3069\u304c\u5076\u7136\u306e\u5b64\u767a\u4f8b\u3067\u3001\u3054\u4e21\u89aa\u306e\u884c\u52d5\u304c\u539f\u56e0\u306b\u306a\u308b\u3053\u3068\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u8a3a\u65ad\u306f\u67d3\u8272\u4f53<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u691c\u67fb\u3067\u78ba\u5b9a\u3057\u307e\u3059\u3002\u6574\u5f62\u5916\u79d1\u30fb\u767a\u9054\u652f\u63f4\u30fb\u8033\u9f3b\u79d1\u30fb\u6b6f\u79d1\u306a\u3069\u8907\u6570\u306e\u5c02\u9580\u79d1\u304c\u30c1\u30fc\u30e0\u3067\u9577\u671f\u7684\u306b\u652f\u3048\u307e\u3059\u3002<\/p><\/div>\n\n\n\n<div style=\"border:1px solid #e8608a;border-radius:8px;background:#fff5f8;padding:4% 5%;margin:1rem 0 2.5rem;\">\n<p style=\"font-weight:bold;font-size:1.05em;margin-top:0;\">\u3053\u306e\u8a18\u4e8b\u3067\u308f\u304b\u308b\u3053\u3068<\/p>\n<ul style=\"margin-bottom:0;\">\n<li>TRPS2\uff08\u30e9\u30f3\u30ac\u30fc\u30fb\u30ae\u30c7\u30aa\u30f3\u75c7\u5019\u7fa4\uff09\u3068\u306f\u4f55\u304b\u3001I\u578b\u30fbIII\u578b\u3068\u306e\u9055\u3044<\/li>\n<li>\u539f\u56e0\u3068\u306a\u308b3\u3064\u306e\u907a\u4f1d\u5b50\uff08TRPS1\u30fbRAD21\u30fbEXT1\uff09\u3068\u67d3\u8272\u4f538q24\u9818\u57df\u306e\u95a2\u4fc2<\/li>\n<li>\u9854\u8c8c\u30fb\u9aa8\u683c\u30fb\u591a\u767a\u6027\u5916\u9aa8\u816b\u30fb\u767a\u9054\u306a\u3069\u5177\u4f53\u7684\u306a\u75c7\u72b6\u3068\u3001\u898b\u843d\u3068\u3055\u308c\u3084\u3059\u3044\u80a1\u95a2\u7bc0\u306e\u554f\u984c<\/li>\n<li>\u8a3a\u65ad\u306e\u9032\u3081\u65b9\u3068\u3001NIPT\u3067\u3069\u3053\u307e\u3067\u308f\u304b\u308b\u306e\u304b\u3068\u3044\u3046\u7591\u554f\u3078\u306e\u7b54\u3048<\/li>\n<li>\u6cbb\u7642\u30fb\u751f\u6d3b\u7ba1\u7406\u306e\u8003\u3048\u65b9\u3068\u3054\u5bb6\u65cf\u3078\u306e\u30e1\u30c3\u30bb\u30fc\u30b8<\/li>\n<\/ul>\n<\/div>\n\n\n\n\n\n\n<div id=\"ez-toc-container\" 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ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/trps2-langer-giedion-syndrome\/#%E2%91%A2_%E9%81%BA%E4%BC%9D%E5%AD%A6%E7%9A%84%E6%A4%9C%E6%9F%BB\" >\u2462 \u907a\u4f1d\u5b66\u7684\u691c\u67fb<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-18\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/trps2-langer-giedion-syndrome\/#NIPT%E3%81%A7TRPS2%E3%81%AF%E3%82%8F%E3%81%8B%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B\" >NIPT\u3067TRPS2\u306f\u308f\u304b\u308a\u307e\u3059\u304b<\/a><\/li><\/ul><\/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\/trps2-langer-giedion-syndrome\/#%E6%B2%BB%E7%99%82%E3%81%A8%E7%AE%A1%E7%90%86%EF%BC%9A%E5%A4%9A%E8%81%B7%E7%A8%AE%E3%81%AB%E3%82%88%E3%82%8B%E9%95%B7%E6%9C%9F%E7%9A%84%E3%81%AA%E3%82%B5%E3%83%9D%E3%83%BC%E3%83%88\" >\u6cbb\u7642\u3068\u7ba1\u7406\uff1a\u591a\u8077\u7a2e\u306b\u3088\u308b\u9577\u671f\u7684\u306a\u30b5\u30dd\u30fc\u30c8<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-20\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/trps2-langer-giedion-syndrome\/#%E6%95%B4%E5%BD%A2%E5%A4%96%E7%A7%91%E7%9A%84%E3%81%AA%E3%82%A2%E3%83%97%E3%83%AD%E3%83%BC%E3%83%81\" >\u6574\u5f62\u5916\u79d1\u7684\u306a\u30a2\u30d7\u30ed\u30fc\u30c1<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-21\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/trps2-langer-giedion-syndrome\/#%E7%99%BA%E9%81%94%E3%81%8A%E3%82%88%E3%81%B3%E6%95%99%E8%82%B2%E7%9A%84%E3%82%B5%E3%83%9D%E3%83%BC%E3%83%88\" >\u767a\u9054\u304a\u3088\u3073\u6559\u80b2\u7684\u30b5\u30dd\u30fc\u30c8<\/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\/trps2-langer-giedion-syndrome\/#%E3%81%9D%E3%81%AE%E4%BB%96%E3%81%AE%E5%B0%82%E9%96%80%E7%A7%91%E3%81%AB%E3%82%88%E3%82%8B%E3%82%B1%E3%82%A2\" >\u305d\u306e\u4ed6\u306e\u5c02\u9580\u79d1\u306b\u3088\u308b\u30b1\u30a2<\/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\/trps2-langer-giedion-syndrome\/#%E6%B3%A8%E6%84%8F%E3%81%99%E3%81%B9%E3%81%8D%E7%82%B9%EF%BC%9A%E6%82%AA%E6%80%A7%E5%8C%96%E3%81%AE%E7%9B%A3%E8%A6%96\" >\u6ce8\u610f\u3059\u3079\u304d\u70b9\uff1a\u60aa\u6027\u5316\u306e\u76e3\u8996<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-24\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/trps2-langer-giedion-syndrome\/#%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-25\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/trps2-langer-giedion-syndrome\/#%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\" >\u5bb6\u65cf\u3078\u306e\u30e1\u30c3\u30bb\u30fc\u30b8<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-26\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/trps2-langer-giedion-syndrome\/#%E6%97%A5%E5%B8%B8%E7%94%9F%E6%B4%BB%E3%81%A7%E5%BF%83%E3%81%8C%E3%81%91%E3%81%9F%E3%81%84%E3%81%93%E3%81%A8\" >\u65e5\u5e38\u751f\u6d3b\u3067\u5fc3\u304c\u3051\u305f\u3044\u3053\u3068<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-27\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/trps2-langer-giedion-syndrome\/#%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-28\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/trps2-langer-giedion-syndrome\/#Q_TRPS2%E3%81%A8TRPS1%EF%BC%88I%E5%9E%8B%EF%BC%89%E3%80%81TRPS3%EF%BC%88III%E5%9E%8B%EF%BC%89%E3%81%AE%E9%81%95%E3%81%84%E3%81%AF%E4%BD%95%E3%81%A7%E3%81%99%E3%81%8B%EF%BC%9F\" >Q. TRPS2\u3068TRPS1\uff08I\u578b\uff09\u3001TRPS3\uff08III\u578b\uff09\u306e\u9055\u3044\u306f\u4f55\u3067\u3059\u304b\uff1f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-29\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/trps2-langer-giedion-syndrome\/#Q_TRPS2%E3%81%AF%E9%81%BA%E4%BC%9D%E3%81%97%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\" >Q. TRPS2\u306f\u907a\u4f1d\u3057\u307e\u3059\u304b\uff1f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-30\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/trps2-langer-giedion-syndrome\/#Q_NIPT%E3%81%A7TRPS2%E3%81%AF%E3%82%8F%E3%81%8B%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\" >Q. NIPT\u3067TRPS2\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-31\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/trps2-langer-giedion-syndrome\/#Q_%E5%A4%9A%E7%99%BA%E6%80%A7%E5%A4%96%E9%AA%A8%E8%85%AB%E3%81%AF%E3%81%8C%E3%82%93%E5%8C%96%E3%81%97%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\" >Q. \u591a\u767a\u6027\u5916\u9aa8\u816b\u306f\u304c\u3093\u5316\u3057\u307e\u3059\u304b\uff1f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-32\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/trps2-langer-giedion-syndrome\/#Q_%E7%9F%A5%E7%9A%84%E9%9A%9C%E5%AE%B3%E3%81%AF%E3%81%A9%E3%81%AE%E7%A8%8B%E5%BA%A6%E3%81%A7%E3%81%99%E3%81%8B%EF%BC%9F\" >Q. \u77e5\u7684\u969c\u5bb3\u306f\u3069\u306e\u7a0b\u5ea6\u3067\u3059\u304b\uff1f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-33\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/trps2-langer-giedion-syndrome\/#Q_%E4%BD%95%E7%A7%91%E3%82%92%E5%8F%97%E8%A8%BA%E3%81%99%E3%82%8C%E3%81%B0%E3%82%88%E3%81%84%E3%81%A7%E3%81%99%E3%81%8B%EF%BC%9F\" >Q. \u4f55\u79d1\u3092\u53d7\u8a3a\u3059\u308c\u3070\u3088\u3044\u3067\u3059\u304b\uff1f<\/a><\/li><\/ul><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"TRPS2%EF%BC%88%E6%AF%9B%E9%AB%AA%E3%83%BB%E9%BC%BB%E3%83%BB%E6%8C%87%E7%AF%80%E7%97%87%E5%80%99%E7%BE%A4II%E5%9E%8B%EF%BC%89%E3%81%A8%E3%81%AF\"><\/span>TRPS2\uff08\u6bdb\u9aea\u30fb\u9f3b\u30fb\u6307\u7bc0\u75c7\u5019\u7fa4II\u578b\uff09\u3068\u306f<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>TRPS2\u306f\u3001\u9aea\u30fb\u9f3b\u30fb\u6307\u306e\u7279\u5fb4\u306b\u52a0\u3048\u3066\u591a\u767a\u6027\u5916\u9aa8\u816b\u3068\u767a\u9054\u306e\u9045\u308c\u3092\u4f34\u3046\u3001\u6bdb\u9aea\u30fb\u9f3b\u30fb\u6307\u7bc0\u75c7\u5019\u7fa4\uff08TRPS\uff09\u306e\u306a\u304b\u3067\u3082\u3063\u3068\u3082\u75c7\u72b6\u304c\u591a\u5c90\u306b\u308f\u305f\u308b\u30bf\u30a4\u30d7\u3067\u3059\u3002<\/strong>\u6b63\u5f0f\u540d\u79f0\u306fTrichorhinophalangeal Syndrome Type II\uff08TRPS2\uff09\u3067\u3059\u3002\u5225\u540d\u300c\u30e9\u30f3\u30ac\u30fc\u30fb\u30ae\u30c7\u30aa\u30f3\u75c7\u5019\u7fa4\uff08Langer-Giedion Syndrome\uff09\u300d\u3068\u3082\u547c\u3070\u308c\u307e\u3059\u3002\u8a3a\u65ad\u540d\u3092\u544a\u3052\u3089\u308c\u305f\u3070\u304b\u308a\u306e\u3054\u5bb6\u65cf\u306f\u3001\u805e\u304d\u6163\u308c\u306a\u3044\u8a00\u8449\u306b\u6238\u60d1\u3046\u3053\u3068\u3082\u591a\u3044\u306f\u305a\u3067\u3059\u3002\u307e\u305a\u306f\u57fa\u672c\u304b\u3089\u9806\u306b\u6574\u7406\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"TRPS%E3%81%AE%E5%88%86%E9%A1%9E%E3%81%AF2023%E5%B9%B4%E3%81%AB%E8%A6%8B%E7%9B%B4%E3%81%95%E3%82%8C%E3%81%BE%E3%81%97%E3%81%9F\"><\/span><strong>TRPS\u306e\u5206\u985e\u306f2023\u5e74\u306b\u898b\u76f4\u3055\u308c\u307e\u3057\u305f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5f93\u6765\u3001TRPS\u306fI\u578b\u30fbII\u578b\u30fbIII\u578b\u306e3\u30bf\u30a4\u30d7\u306b\u5206\u3051\u3066\u8aac\u660e\u3055\u308c\u3066\u304d\u307e\u3057\u305f\u3002\u907a\u4f1d\u6027\u9aa8\u683c\u75be\u60a3\u306e\u56fd\u969b\u5206\u985e\uff08Nosology of Genetic Skeletal Disorders\uff09\u306f2023\u5e74\u306b\u6539\u5b9a\u3055\u308c\u307e\u3057\u305f\u3002\u3053\u306e\u6539\u5b9a\u3067<strong>I\u578b\u3068III\u578b\u306f\u3069\u3061\u3089\u3082TRPS1\u907a\u4f1d\u5b50\u5358\u72ec\u306e\u5909\u5316\u3067\u8d77\u3053\u308b\u540c\u4e00\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u3068\u3057\u3066\u300c1\/3\u578b\u300d\u306b\u7d71\u5408<\/strong>\u3055\u308c\u307e\u3057\u305f\u3002\u4e00\u65b9\u3001II\u578b\uff08TRPS2\uff09\u3060\u3051\u306f\u5225\u306e\u4ed5\u7d44\u307f\u3067\u8d77\u3053\u308b\u305f\u3081\u3001\u72ec\u7acb\u3057\u305f\u30bf\u30a4\u30d7\u306e\u307e\u307e\u6b8b\u3063\u3066\u3044\u307e\u3059\u3002TRPS1\u3092\u542b\u3080\u8907\u6570\u306e\u907a\u4f1d\u5b50\u304c\u9023\u7d9a\u3057\u3066\u5931\u308f\u308c\u308b\u306e\u304c\u7406\u7531\u3067\u3059\u3002\u547c\u3073\u65b9\u306e\u9055\u3044\u306b\u6238\u60d1\u3046\u65b9\u3082\u3044\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002\u81e8\u5e8a\u306e\u73fe\u5834\u3067\u306f\u3001\u307e\u3060I\u30fbII\u30fbIII\u578b\u3068\u3044\u3046\u5f93\u6765\u306e\u547c\u79f0\u3082\u5e83\u304f\u4f7f\u308f\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<figure class=\"wp-block-table\" style=\"margin:1.5rem 0;\"><table><thead><tr><th>\u30bf\u30a4\u30d7<\/th><th>\u539f\u56e0<\/th><th>\u5916\u9aa8\u816b<\/th><th><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u306e\u983b\u5ea6<\/th><\/tr><\/thead><tbody><tr><td>1\/3\u578b\uff08\u65e7I\u578b\u30fbIII\u578b\uff09<\/td><td>TRPS1\u907a\u4f1d\u5b50\u306e\u5909\u7570<\/td><td>\u306a\u3057<\/td><td>\u7d0410%<\/td><\/tr><tr><td>2\u578b\uff1dTRPS2\uff08\u30e9\u30f3\u30ac\u30fc\u30fb\u30ae\u30c7\u30aa\u30f3\u75c7\u5019\u7fa4\uff09<\/td><td>TRPS1\u30fbRAD21\u30fbEXT1\u306e\u9023\u7d9a\u6b20\u5931<\/td><td>\u3042\u308a\uff0885%\u4ee5\u4e0a\uff09<\/td><td>\u7d0450\u301c60%<\/td><\/tr><\/tbody><\/table><figcaption>2023\u5e74\u6539\u5b9a\u5f8c\u306eTRPS\u5206\u985e\uff08GeneReviews\u3092\u3082\u3068\u306b\u4f5c\u6210\uff09<\/figcaption><\/figure>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%A9%E3%81%AE%E3%81%8F%E3%82%89%E3%81%84%E3%81%AE%E9%A0%BB%E5%BA%A6%E3%81%A7%E3%81%BF%E3%82%89%E3%82%8C%E3%82%8B%E3%81%AE%E3%81%8B\"><\/span><strong>\u3069\u306e\u304f\u3089\u3044\u306e\u983b\u5ea6\u3067\u307f\u3089\u308c\u308b\u306e\u304b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>TRPS2\u306f\u6975\u3081\u3066\u307e\u308c\u306a\u75be\u60a3\u3067\u3001<strong>\u63a8\u5b9a\u983b\u5ea6\u306f100\u4e07\u4eba\u306b1\u4eba\u672a\u6e80<\/strong>\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u6b27\u5dde\u306e\u5e0c\u5c11\u75be\u60a3\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9Orphanet\u3067\u306f\u3001\u3053\u308c\u307e\u3067\u306e\u5831\u544a\u4f8b\u306f\u304a\u3088\u305d100\u4f8b\u3067\u3059\u3002GeneReviews\u3067\u306f\u3001\u4e16\u754c\u5168\u4f53\u3067\u7d04350\u4f8b\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u3068\u307e\u3068\u3081\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u6570\u5b57\u3060\u3051\u3092\u898b\u308b\u3068\u5b64\u72ec\u306b\u611f\u3058\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u304c\u3001\u5c02\u9580\u65bd\u8a2d\u3068\u8a3a\u65ad\u6280\u8853\u306e\u5e83\u304c\u308a\u306b\u3088\u308a\u3001\u5831\u544a\u4f8b\u306f\u5e74\u3005\u5897\u3048\u3066\u3044\u307e\u3059\u3002\u59c9\u59b9\u306b\u3042\u305f\u308bI\u578b\uff08TRPS1\uff09\u306b\u3064\u3044\u3066\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/trps-type1-guide\/\">\u6bdb\u9aea\u30fb\u9f3b\u30fb\u6307\u7bc0\u75c7\u5019\u7fa41\u578b\uff08TRPS1\uff09\u306e\u89e3\u8aac\u8a18\u4e8b<\/a>\u3082\u3042\u308f\u305b\u3066\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%B8%BB%E3%81%AA%E7%97%87%E7%8A%B6%EF%BC%9A%E5%85%B7%E4%BD%93%E7%9A%84%E3%81%AA%E7%89%B9%E5%BE%B4\"><\/span>\u4e3b\u306a\u75c7\u72b6\uff1a\u5177\u4f53\u7684\u306a\u7279\u5fb4<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u75c7\u72b6\u306f\u3001\u9854\u7acb\u3061\u3068\u6bdb\u9aea\u3001\u6307\u3068\u9aa8\u683c\u3001\u591a\u767a\u6027\u5916\u9aa8\u816b\u3001\u767a\u9054\u3001\u305d\u3057\u3066\u898b\u843d\u3068\u3055\u308c\u304c\u3061\u306a\u80a1\u95a2\u7bc0\u306e5\u3064\u306b\u5927\u304d\u304f\u5206\u3051\u3089\u308c\u307e\u3059\u3002<\/strong>\u500b\u4eba\u5dee\u304c\u5927\u304d\u3044\u75be\u60a3\u3067\u3042\u308b\u305f\u3081\u3001\u3059\u3079\u3066\u306e\u7279\u5fb4\u304c\u305d\u308d\u3046\u3068\u306f\u9650\u308a\u307e\u305b\u3093\u3002\u90e8\u4f4d\u5225\u306b\u8a73\u3057\u304f\u898b\u3066\u3044\u304d\u307e\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A0_%E7%89%B9%E5%BE%B4%E7%9A%84%E3%81%AA%E9%A1%94%E8%B2%8C%EF%BC%88%E3%81%8C%E3%82%93%E3%81%BC%E3%81%86%EF%BC%89%E3%81%A8%E6%AF%9B%E9%AB%AA\"><\/span><strong>\u2460 \u7279\u5fb4\u7684\u306a\u9854\u8c8c\uff08\u304c\u3093\u307c\u3046\uff09\u3068\u6bdb\u9aea<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u9854\u7acb\u3061\u306b\u5171\u901a\u3057\u3066\u898b\u3089\u308c\u308b\u306e\u306f\u3001\u9f3b\u30fb\u6bdb\u9aea\u30fb\u4e0a\u5507\u307e\u308f\u308a\u306e\u3044\u304f\u3064\u304b\u306e\u7279\u5fb4\u3002\u3053\u308c\u3089\u306f\u300cTRPS\u9854\u8c8c\u300d\u3068\u547c\u3070\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u9f3b\u306e\u5f62\uff08\u68a8\u72b6\u9f3b\uff09\uff1a<\/strong>\u9f3b\u5148\u304c\u3075\u3063\u304f\u3089\u3068\u4e38\u304f\u3001\u68a8\u306e\u3088\u3046\u306a\u5f62\u3092\u3057\u3066\u3044\u308b\u306e\u304c\u6700\u5927\u306e\u7279\u5fb4\u3067\u3059\u3002\u9f3b\u7ffc\uff08\u5c0f\u9f3b\uff09\u304c\u4f4e\u5f62\u6210\u3067\u3001\u9f3b\u306e\u4e0b\u306e\u6e9d\uff08\u4eba\u4e2d\uff09\u304c\u9577\u304f\u5e73\u3089\u306b\u306a\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6bdb\u9aea\u306e\u7570\u5e38\uff1a<\/strong>\u4e73\u5e7c\u5150\u671f\u304b\u3089\u9aea\u306e\u6bdb\u304c\u7d30\u304f\u3001\u307e\u3070\u3089\u3067\u3001\u4f38\u3073\u306b\u304f\u3044\u306e\u304c\u7279\u5fb4\u3067\u3059\u3002\u7709\u6bdb\u306e\u5916\u5074\u304c\u8584\u304f\u306a\u308b\u3053\u3068\u3082\u3088\u304f\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4e0a\u5507\u3068\u8033\uff1a<\/strong>\u4e0a\u5507\u304c\u8584\u304f\u3001\u8033\u304c\u5927\u304d\u304f\u7a81\u51fa\u3057\u3066\u898b\u3048\u308b\u3001\u3042\u308b\u3044\u306f\u4f4d\u7f6e\u304c\u3084\u3084\u4f4e\u304f\u898b\u3048\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A1_%E9%AA%A8%E6%A0%BC%E3%81%8A%E3%82%88%E3%81%B3%E6%8C%87%E3%81%AE%E7%95%B0%E5%B8%B8\"><\/span><strong>\u2461 \u9aa8\u683c\u304a\u3088\u3073\u6307\u306e\u7570\u5e38<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u300c\u6307\u7bc0\uff08\u3057\u305b\u3064\uff09\u300d\u3068\u3044\u3046\u540d\u524d\u304c\u793a\u3059\u901a\u308a\u3001\u6307\u306e\u9aa8\u306b\u9855\u8457\u306a\u5909\u5316\u304c\u73fe\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5186\u9310\u5f62\u9aa8\u7aef\uff08\u3048\u3093\u3059\u3044\u3051\u3044\u3053\u3063\u305f\u3093\uff09\uff1a<\/strong>\u624b\u306e\u6307\u306e\u30ec\u30f3\u30c8\u30b2\u30f3\u3067\u898b\u3089\u308c\u308b\u7279\u6709\u306e\u6240\u898b\u3067\u3059\u3002\u6307\u306e\u95a2\u7bc0\u306b\u3042\u308b\u6210\u9577\u30d7\u30ec\u30fc\u30c8\u304c\u5186\u9310\u5f62\u306b\u898b\u3048\u3001\u6307\u306e\u95a2\u7bc0\u304c\u592a\u304f\u898b\u3048\u305f\u308a\u66f2\u304c\u3063\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6307\u306e\u77ed\u7e2e\uff1a<\/strong>\u624b\u306e\u6307\u304c\u5168\u4f53\u7684\u306b\u77ed\u304f\u306a\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u4eba\u5dee\u3057\u6307\u3084\u4e2d\u6307\u306a\u3069\u304c\u6a2a\u306b\u66f2\u304c\u3063\u3066\u3044\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4f4e\u8eab\u9577\uff1a<\/strong>\u9aa8\u306e\u6210\u9577\u304c\u3086\u3063\u304f\u308a\u3067\u3042\u308b\u305f\u3081\u6700\u7d42\u7684\u306a\u8eab\u9577\u304c\u4f4e\u304f\u306a\u308b\u50be\u5411\u304c\u3042\u308a\u3001GeneReviews\u306b\u3088\u308b\u3068TRPS2\u3067\u306f\u7d0480%\u306b\u898b\u3089\u308c\u307e\u3059\u3002\u6210\u9577\u30db\u30eb\u30e2\u30f3\u306e\u5206\u6ccc\u81ea\u4f53\u306f\u6b63\u5e38\u306a\u3053\u3068\u304c\u591a\u3044\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A2_%E5%A4%9A%E7%99%BA%E6%80%A7%E5%A4%96%E9%AA%A8%E8%85%AB%EF%BC%88%E3%81%9F%E3%81%AF%E3%81%A4%E3%81%9B%E3%81%84%E3%81%8C%E3%81%84%E3%81%93%E3%81%A4%E3%81%97%E3%82%85%EF%BC%89\"><\/span><strong>\u2462 \u591a\u767a\u6027\u5916\u9aa8\u816b\uff08\u305f\u306f\u3064\u305b\u3044\u304c\u3044\u3053\u3064\u3057\u3085\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p><strong>\u591a\u767a\u6027\u5916\u9aa8\u816b\u306f\u3001TRPS2\u3092I\u578b\u30fbIII\u578b\u3068\u533a\u5225\u3059\u308b\u6700\u3082\u91cd\u8981\u306a\u75c7\u72b6\u3067\u300185%\u4ee5\u4e0a\u306e\u304a\u5b50\u3055\u3093\u306b\u898b\u3089\u308c\u307e\u3059\u3002<\/strong>\u9aa8\u306e\u8868\u9762\u304b\u3089\u5916\u5074\u306b\u7a81\u304d\u51fa\u3059\u826f\u6027\u306e\u9aa8\u306e\u3053\u3076\u3067\u3001\u591a\u304f\u306f\u751f\u5f8c1\u304b\u6708\u304b\u30896\u6b73\u3054\u308d\u307e\u3067\u306e\u9593\u306b\u3001\u80a9\u7532\u9aa8\u30fb\u8098\u30fb\u819d\u306e\u3042\u305f\u308a\u304b\u3089\u51fa\u59cb\u3081\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u51fa\u73fe\u90e8\u4f4d\uff1a<\/strong>\u8155\u306e\u9aa8\uff08\u5c3a\u9aa8\u3084\u6a48\u9aa8\uff09\u3001\u8db3\u306e\u9aa8\uff08\u5927\u817f\u9aa8\u3084\u811b\u9aa8\uff09\u3001\u808b\u9aa8\u3001\u80a9\u7532\u9aa8\u306a\u3069\u306b\u591a\u304f\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5f71\u97ff\uff1a<\/strong>\u3053\u3076\u304c\u5927\u304d\u304f\u306a\u308b\u3068\u3001\u8fd1\u304f\u306e\u8840\u7ba1\u3084\u795e\u7d4c\u3092\u5727\u8feb\u3057\u3066\u75db\u307f\u3092\u751f\u3058\u305f\u308a\u3001\u95a2\u7bc0\u306e\u53ef\u52d5\u57df\u3092\u5236\u9650\u3057\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u9aa8\u306e\u6210\u9577\u3092\u59a8\u3052\u3001\u56db\u80a2\u306e\u9577\u3055\u304c\u5de6\u53f3\u3067\u7570\u306a\u308b\u539f\u56e0\u306b\u3082\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A3_%E8%A6%8B%E8%90%BD%E3%81%A8%E3%81%95%E3%82%8C%E3%82%84%E3%81%99%E3%81%84%E8%82%A1%E9%96%A2%E7%AF%80%E3%81%AE%E5%95%8F%E9%A1%8C\"><\/span><strong>\u2463 \u898b\u843d\u3068\u3055\u308c\u3084\u3059\u3044\u80a1\u95a2\u7bc0\u306e\u554f\u984c<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p><strong>\u80a1\u95a2\u7bc0\u306e\u5909\u5f62\uff08\u80a1\u95a2\u7bc0\u5f62\u6210\u4e0d\u5168\uff09\u306f\u3001I\u578b\u3067\u306f\u7d0425%\u3067\u3042\u308b\u306e\u306b\u5bfe\u3057\u3001TRPS2\u3067\u306f\u7d0460%\u3068\u9ad8\u3044\u983b\u5ea6\u3067\u898b\u3089\u308c\u308b\u7279\u5fb4\u3067\u3059\u3002<\/strong>\u610f\u5916\u3068\u77e5\u3089\u308c\u3066\u3044\u307e\u305b\u3093\u304c\u3001\u898b\u9003\u305b\u306a\u3044\u30dd\u30a4\u30f3\u30c8\u3067\u3059\u3002\u601d\u6625\u671f\u304b\u3089\u6210\u4eba\u65e9\u671f\u306b\u304b\u3051\u3066\u3001\u75db\u307f\u3084\u53ef\u52d5\u57df\u306e\u5236\u9650\u304c\u76ee\u7acb\u3064\u3088\u3046\u306b\u306a\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002\u91cd\u75c7\u4f8b\u3067\u306f\u300130\u6b73\u307e\u3067\u306b\u4eba\u5de5\u80a1\u95a2\u7bc0\u3078\u306e\u7f6e\u304d\u63db\u3048\u304c\u691c\u8a0e\u3055\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u5b9a\u671f\u7684\u306a\u6574\u5f62\u5916\u79d1\u3067\u306e\u30c1\u30a7\u30c3\u30af\u304c\u6b20\u304b\u305b\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<figure 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fill=\"#5a2b3a\">\u7d0425%<\/text>\n  <text x=\"195\" y=\"242\" text-anchor=\"middle\" font-size=\"14\" fill=\"#5a2b3a\">1\/3\u578b\uff08TRPS1\uff09<\/text>\n  <rect x=\"390\" y=\"90\" width=\"110\" height=\"135\" fill=\"#e8608a\"\/>\n  <text x=\"445\" y=\"75\" text-anchor=\"middle\" font-size=\"16\" fill=\"#5a2b3a\">\u7d0460%<\/text>\n  <text x=\"445\" y=\"242\" text-anchor=\"middle\" font-size=\"14\" fill=\"#5a2b3a\">2\u578b\uff08TRPS2\uff09<\/text>\n<\/svg>\n<figcaption>GeneReviews\u306e\u8a18\u8f09\u3092\u3082\u3068\u306b\u3057\u305f\u80a1\u95a2\u7bc0\u5f62\u6210\u4e0d\u5168\u306e\u983b\u5ea6\u30a4\u30e1\u30fc\u30b8<\/figcaption>\n<\/figure>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A4_%E7%9F%A5%E8%83%BD%E3%81%8A%E3%82%88%E3%81%B3%E7%99%BA%E9%81%94%E3%81%AE%E9%81%85%E3%82%8C\"><\/span><strong>\u2464 \u77e5\u80fd\u304a\u3088\u3073\u767a\u9054\u306e\u9045\u308c<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>GeneReviews\u306b\u3088\u308b\u3068\u3001<strong>\u8efd\u5ea6\u304b\u3089\u4e2d\u7b49\u5ea6\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u306fTRPS2\u306e\u7d0450\u301c60%\u306b\u898b\u3089\u308c\u3001I\u578b\u306e\u7d0410%\u3068\u6bd4\u3079\u3066\u660e\u3089\u304b\u306b\u9ad8\u3044\u983b\u5ea6<\/strong>\u3067\u3059\u3002\u3053\u308c\u306f\u3001\u5f8c\u8ff0\u3059\u308bRAD21\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u304c\u767a\u9054\u306b\u95a2\u308f\u3063\u3066\u3044\u308b\u305f\u3081\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u5c0f\u982d\u75c7\uff08\u982d\u56f2\u304c\u5e73\u5747\u3088\u308a\u5c0f\u3055\u3044\u72b6\u614b\uff09\u3082\u540c\u7a0b\u5ea6\u306e\u983b\u5ea6\u3067\u4f34\u3046\u3053\u3068\u304c\u5206\u304b\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u77e5\u7684\u306a\u767a\u9054\uff1a<\/strong>\u5b66\u7fd2\u9762\u3067\u306e\u9069\u5207\u306a\u30b5\u30dd\u30fc\u30c8\u304c\u3042\u308c\u3070\u3001\u591a\u304f\u306e\u3053\u3068\u3092\u7fd2\u5f97\u3067\u304d\u308b\u304a\u5b50\u3055\u3093\u304c\u5c11\u306a\u304f\u3042\u308a\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u306e\u9045\u308c\uff1a<\/strong>\u8a00\u8449\u306e\u51fa\u59cb\u3081\u304c\u9045\u3044\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\u3059\u3002\u77e5\u7684\u306a\u767a\u9054\u3060\u3051\u3067\u306a\u304f\u3001\u5f8c\u8ff0\u3059\u308b\u8074\u899a\u306e\u554f\u984c\u304c\u5f71\u97ff\u3057\u3066\u3044\u308b\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u904b\u52d5\u767a\u9054\uff1a<\/strong>\u7b4b\u8089\u306e\u5f35\u308a\u304c\u5f31\u3044\u300c\u4f4e\u7dca\u5f35\u300d\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u6b69\u304d\u59cb\u3081\u304c\u5c11\u3057\u9045\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A5_%E3%81%9D%E3%81%AE%E4%BB%96%E3%81%AE%E9%9A%8F%E4%BC%B4%E7%97%87%E7%8A%B6\"><\/span><strong>\u2465 \u305d\u306e\u4ed6\u306e\u968f\u4f34\u75c7\u72b6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8074\u899a\u969c\u5bb3\uff1a<\/strong>\u6162\u6027\u7684\u306a\u4e2d\u8033\u708e\u3092\u7e70\u308a\u8fd4\u3057\u3084\u3059\u304f\u3001\u4f1d\u97f3\u96e3\u8074\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u4e00\u90e8\u3067\u306f\u795e\u7d4c\u6027\u306e\u96e3\u8074\u3092\u4f34\u3046\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u76ae\u819a\u306e\u904e\u4f38\u5c55\uff1a<\/strong>\u76ae\u819a\u304c\u67d4\u3089\u304b\u304f\u3001\u4f38\u3073\u3084\u3059\u3044\u6027\u8cea\u3092\u6301\u3064\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6b6f\u79d1\u7684\u554f\u984c\uff1a<\/strong>\u6c38\u4e45\u6b6f\u306e\u6b20\u640d\u3001\u6b6f\u4e26\u3073\u306e\u7570\u5e38\u3001\u904e\u5270\u6b6f\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u79c1\u306f\u3053\u308c\u307e\u3067\u591a\u304f\u306e\u3054\u5bb6\u65cf\u306e\u76f8\u8ac7\u306b\u63a5\u3057\u3066\u304d\u307e\u3057\u305f\u3002\u5370\u8c61\u306b\u6b8b\u308b\u306e\u306f\u3001\u75c7\u72b6\u306e\u91cd\u3055\u3088\u308a\u3082\u300c\u6b21\u306b\u4f55\u3092\u78ba\u8a8d\u3059\u308c\u3070\u3088\u3044\u304b\u5206\u304b\u3089\u306a\u3044\u300d\u3068\u3044\u3046\u4e0d\u5b89\u306e\u58f0\u3067\u3059\u3002\u4e00\u3064\u305a\u3064\u6574\u7406\u3057\u3066\u3044\u3051\u3070\u3001\u5bfe\u5fdc\u306e\u9053\u7b4b\u306f\u5fc5\u305a\u898b\u3048\u3066\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%8E%9F%E5%9B%A0%EF%BC%9A3%E3%81%A4%E3%81%AE%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%A8%E6%9F%93%E8%89%B2%E4%BD%93%E3%81%AE%E3%83%A1%E3%82%AB%E3%83%8B%E3%82%BA%E3%83%A0\"><\/span>\u539f\u56e0\uff1a3\u3064\u306e\u907a\u4f1d\u5b50\u3068\u67d3\u8272\u4f53\u306e\u30e1\u30ab\u30cb\u30ba\u30e0<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>TRPS2\u306e\u539f\u56e0\u306f\u3001\u7b2c8\u756a\u67d3\u8272\u4f53\u306b\u3042\u308bTRPS1\u30fbRAD21\u30fbEXT1\u3068\u3044\u30463\u3064\u306e\u907a\u4f1d\u5b50\u304c\u9023\u7d9a\u3057\u3066\u5931\u308f\u308c\u308b\u300c\u96a3\u63a5\u907a\u4f1d\u5b50\u75c7\u5019\u7fa4\u300d\u3067\u3059\u3002<\/strong>\u4ee5\u524d\u306fTRPS1\u3068EXT1\u306e2\u907a\u4f1d\u5b50\u6b20\u5931\u3068\u3057\u3066\u8aac\u660e\u3055\u308c\u308b\u3053\u3068\u304c\u591a\u304f\u3042\u308a\u307e\u3057\u305f\u3002\u3057\u304b\u3057GeneReviews\uff082024\u5e74\u66f4\u65b0\uff09\u3067\u306f\u3001RAD21\u3092\u542b\u30803\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u3067\u3042\u308b\u3068\u6574\u7406\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u96a3\u63a5\u907a\u4f1d\u5b50\u75c7\u5019\u7fa4\u300d\u3068\u306f\u3001\u67d3\u8272\u4f53\u4e0a\u3067\u96a3\u308a\u5408\u3046\u8907\u6570\u306e\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u304c\u307e\u3068\u3081\u3066\u5931\u308f\u308c\u308b\u75c5\u614b\u3067\u3059\u3002\u305d\u308c\u305e\u308c\u306e\u7570\u5e38\u306b\u3088\u308b\u75c7\u72b6\u304c\u3001\u8907\u5408\u7684\u306b\u73fe\u308c\u307e\u3059\u3002\u6b20\u5931\u3059\u308b\u9818\u57df\u306f\u3001\u4ee3\u8868\u7684\u306b\u306fGeneReviews\u3067<strong>8q23.3-q24.11<\/strong>\u3068\u793a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u305f\u3060\u3057\u6b20\u5931\u306e\u5927\u304d\u3055\u306f\u75c7\u4f8b\u306b\u3088\u3063\u3066\u5dee\u304c\u3042\u308a\u3001\u5831\u544a\u306b\u3088\u3063\u3066\u7bc4\u56f2\u306e\u8868\u8a18\u306b\u5e45\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<figure class=\"wp-block-image aligncenter\" style=\"margin:1.5rem auto;\">\n<svg role=\"img\" aria-label=\"\u7b2c8\u756a\u67d3\u8272\u4f53\u306e\u96a3\u308a\u5408\u3046\u9818\u57df\u306b\u3042\u308bTRPS1\u3001RAD21\u3001EXT1\u3068\u3044\u30463\u3064\u306e\u907a\u4f1d\u5b50\u304c\u9023\u7d9a\u3057\u3066\u5931\u308f\u308c\u308b\u3053\u3068\u3067TRPS2\u304c\u8d77\u3053\u308b\u69d8\u5b50\u3092\u793a\u3057\u305f\u6a21\u5f0f\u56f3\" viewBox=\"0 0 720 260\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" style=\"max-width:720px;width:100%;height:auto;font-family:sans-serif;\">\n  <rect x=\"0\" y=\"0\" width=\"720\" height=\"260\" fill=\"#fff9fb\"\/>\n  <text x=\"360\" y=\"35\" text-anchor=\"middle\" font-size=\"19\" fill=\"#5a2b3a\">\u7b2c8\u756a\u67d3\u8272\u4f53\uff088q23.3-q24.11\uff09\u306e\u30a4\u30e1\u30fc\u30b8<\/text>\n  <rect x=\"60\" y=\"100\" width=\"600\" height=\"40\" rx=\"8\" fill=\"#f6b8cd\"\/>\n  <rect x=\"120\" y=\"95\" width=\"90\" height=\"50\" rx=\"6\" fill=\"#e8608a\"\/>\n  <rect x=\"330\" y=\"95\" width=\"90\" height=\"50\" rx=\"6\" fill=\"#b23a5e\"\/>\n  <rect x=\"540\" y=\"95\" width=\"90\" height=\"50\" rx=\"6\" fill=\"#e8608a\"\/>\n  <text x=\"165\" y=\"170\" text-anchor=\"middle\" font-size=\"15\" fill=\"#5a2b3a\">TRPS1<\/text>\n  <text x=\"165\" y=\"190\" text-anchor=\"middle\" font-size=\"12\" fill=\"#9a6070\">\u6bdb\u9aea\u30fb\u8edf\u9aa8<\/text>\n  <text x=\"375\" y=\"170\" text-anchor=\"middle\" font-size=\"15\" fill=\"#5a2b3a\">RAD21<\/text>\n  <text x=\"375\" y=\"190\" text-anchor=\"middle\" font-size=\"12\" fill=\"#9a6070\">\u767a\u9054\u30fb\u77e5\u7684\u6a5f\u80fd<\/text>\n  <text x=\"585\" y=\"170\" text-anchor=\"middle\" font-size=\"15\" fill=\"#5a2b3a\">EXT1<\/text>\n  <text x=\"585\" y=\"190\" text-anchor=\"middle\" font-size=\"12\" fill=\"#9a6070\">\u5916\u9aa8\u816b<\/text>\n  <text x=\"360\" y=\"230\" text-anchor=\"middle\" font-size=\"14\" fill=\"#b23a5e\">\u3053\u306e3\u907a\u4f1d\u5b50\u304c\u9023\u7d9a\u3057\u3066\u5931\u308f\u308c\u308b\u3068TRPS2\u306b<\/text>\n<\/svg>\n<figcaption>TRPS2\u306e\u539f\u56e0\u3068\u306a\u308b3\u3064\u306e\u907a\u4f1d\u5b50\u306e\u4f4d\u7f6e\u95a2\u4fc2\uff08\u6a21\u5f0f\u56f3\uff09<\/figcaption>\n<\/figure>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%AC%A0%E5%A4%B1%E3%81%AE%E5%BD%B1%E9%9F%BF%E3%82%92%E5%8F%97%E3%81%91%E3%82%8B3%E3%81%A4%E3%81%AE%E9%81%BA%E4%BC%9D%E5%AD%90\"><\/span><strong>\u6b20\u5931\u306e\u5f71\u97ff\u3092\u53d7\u3051\u308b3\u3064\u306e\u907a\u4f1d\u5b50<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>TRPS1\u907a\u4f1d\u5b50\uff1a<\/strong>\u4ed6\u306e\u591a\u304f\u306e\u907a\u4f1d\u5b50\u306e\u30b9\u30a4\u30c3\u30c1\u3092\u5236\u5fa1\u3057\u3001\u8edf\u9aa8\u7d30\u80de\u306e\u5897\u6b96\u3084\u6bdb\u5305\u306e\u767a\u9054\u3092\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3057\u307e\u3059\u3002\u5931\u308f\u308c\u308b\u3053\u3068\u3067\u3001\u7279\u5fb4\u7684\u306a\u9854\u7acb\u3061\u3001\u8584\u3044\u6bdb\u9aea\u3001\u6307\u306e\u5186\u9310\u5f62\u9aa8\u7aef\u304c\u751f\u3058\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>RAD21\u907a\u4f1d\u5b50\uff1a<\/strong>\u7d30\u80de\u5206\u88c2\u306e\u3068\u304d\u306b\u67d3\u8272\u4f53\u3092\u6b63\u3057\u304f\u3064\u306a\u304e\u6b62\u3081\u308b\u300c\u30b3\u30d2\u30fc\u30b7\u30f3\u300d\u3068\u3044\u3046\u8907\u5408\u4f53\u306e\u4e00\u90e8\u3092\u4f5c\u308a\u307e\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306e\u6b20\u5931\uff08\u30cf\u30d7\u30ed\u4e0d\u5168\uff09\u304c\u3001TRPS2\u3067I\u578b\u3088\u308a<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3084\u5c0f\u982d\u75c7\u306e\u983b\u5ea6\u304c\u9ad8\u3044\u3053\u3068\u306b\u95a2\u308f\u3063\u3066\u3044\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>EXT1\u907a\u4f1d\u5b50\uff1a<\/strong>\u9aa8\u306e\u6210\u9577\u3092\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3059\u308b\u30d8\u30d1\u30e9\u30f3\u786b\u9178\u3068\u3044\u3046\u7269\u8cea\u3092\u4f5c\u308b\u9175\u7d20\u306e\u8a2d\u8a08\u56f3\u3067\u3059\u3002\u6b20\u640d\u3059\u308b\u3068\u9aa8\u306e\u6210\u9577\u304c\u5236\u5fa1\u3057\u304d\u308c\u306a\u304f\u306a\u308a\u3001\u3042\u3061\u3053\u3061\u306b\u5916\u9aa8\u816b\u304c\u3067\u304d\u307e\u3059\u3002<\/li>\n<\/ol>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%BA%E4%BC%9D%E3%81%99%E3%82%8B%E3%81%AE%E3%81%A7%E3%81%97%E3%82%87%E3%81%86%E3%81%8B\"><\/span><strong>\u907a\u4f1d\u3059\u308b\u306e\u3067\u3057\u3087\u3046\u304b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>TRPS2\u306e\u591a\u304f\u306e\u75c7\u4f8b\u306f\u300c\u5b64\u767a\u4f8b\uff08\u3053\u306f\u3064\u308c\u3044\uff09\u300d\u3067\u3059\u3002\u7cbe\u5b50\u3084\u5375\u5b50\u304c\u4f5c\u3089\u308c\u308b\u904e\u7a0b\u3001\u3042\u308b\u3044\u306f\u53d7\u7cbe\u5375\u304c\u5206\u88c2\u3059\u308b\u3054\u304f\u521d\u671f\u306e\u6bb5\u968e\u3067\u3001\u5076\u7136\u306b\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u6b20\u3051\u3066\u3057\u307e\u3046\u3053\u3068\u3092\u610f\u5473\u3057\u307e\u3059\u3002\u3054\u4e21\u89aa\u304c\u300c\u81ea\u5206\u305f\u3061\u306e\u305b\u3044\u3067\u306f\u306a\u3044\u304b\u300d\u3068\u8cac\u4efb\u3092\u611f\u3058\u308b\u5fc5\u8981\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u4e00\u65b9\u3067\u3001\u307e\u308c\u306b\u3054\u4e21\u89aa\u306e\u3069\u3061\u3089\u304b\u304b\u3089\u53d7\u3051\u7d99\u3050\u30b1\u30fc\u30b9\u3082\u3042\u308a\u307e\u3059\u3002\u907a\u4f1d\u5f62\u5f0f\u306f<strong>\u5e38\u67d3\u8272\u4f53\u9855\u6027\u907a\u4f1d<\/strong>\u3067\u3059\u3002\u89aa\u304c\u540c\u3058\u6b20\u5931\u3092\u6301\u3064\u5834\u5408\u3001\u304a\u5b50\u3055\u3093\u3078\u53d7\u3051\u7d99\u304c\u308c\u308b\u78ba\u7387\u306f50%\u3068\u3055\u308c\u307e\u3059\u3002\u3054\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u691c\u67fb\u304c\u9670\u6027\u3067\u3082\u3001\u3054\u304f\u308f\u305a\u304b\u306a\u518d\u767a\u30ea\u30b9\u30af\uff081%\u672a\u6e80\u3068\u63a8\u5b9a\uff09\u304c\u6b8b\u308a\u307e\u3059\u3002\u751f\u6b96\u7d30\u80de\u306e\u3054\u304f\u4e00\u90e8\u306b\u3060\u3051\u5909\u5316\u304c\u3042\u308b\u300c\u751f\u6b96\u7d30\u80de<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mosaicism\/\">\u30e2\u30b6\u30a4\u30af<\/a>\u300d\u304c\u7406\u7531\u3067\u3059\u3002\u6c17\u306b\u306a\u308b\u5834\u5408\u306f\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u78ba\u8a8d\u3057\u3066\u304a\u304f\u3068\u5b89\u5fc3\u6750\u6599\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%A8%BA%E6%96%AD%E3%81%A8%E6%A4%9C%E6%9F%BB%EF%BD%9CNIPT%E3%81%A7%E3%82%8F%E3%81%8B%E3%82%8B%E3%81%AE%E3%81%8B\"><\/span>\u8a3a\u65ad\u3068\u691c\u67fb\uff5cNIPT\u3067\u308f\u304b\u308b\u306e\u304b<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>TRPS2\u306e\u8a3a\u65ad\u306f\u3001\u8eab\u4f53\u7684\u306a\u7279\u5fb4\u3092\u78ba\u8a8d\u3059\u308b\u81e8\u5e8a\u8a3a\u65ad\u3068\u3001\u305d\u308c\u3092\u88cf\u4ed8\u3051\u308b\u67d3\u8272\u4f53<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u691c\u67fb\u306b\u3088\u308b\u78ba\u5b9a\u8a3a\u65ad\u306e2\u6bb5\u968e\u3067\u9032\u307f\u307e\u3059\u3002<\/strong>\u307e\u305a\u306f\u5168\u4f53\u306e\u6d41\u308c\u3092\u6574\u7406\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A0_%E8%87%A8%E5%BA%8A%E8%A8%BA%E5%AF%9F\"><\/span><strong>\u2460 \u81e8\u5e8a\u8a3a\u5bdf<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u533b\u5e2b\u306f\u304a\u5b50\u3055\u3093\u306e\u9854\u7acb\u3061\u3001\u6bdb\u9aea\u306e\u5bc6\u5ea6\u3001\u6307\u306e\u5f62\u3001\u9aa8\u306e\u3053\u3076\u306e\u6709\u7121\u3092\u8a73\u3057\u304f\u8a3a\u5bdf\u3057\u307e\u3059\u3002\u68a8\u72b6\u9f3b\u3001\u8584\u3044\u6bdb\u9aea\u3001\u6307\u306e\u5909\u5f62\u306e3\u3064\u304c\u305d\u308d\u3046\u5834\u5408\u3001\u5c02\u9580\u533b\u306fTRPS\u3092\u7591\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A1_%E7%94%BB%E5%83%8F%E8%A8%BA%E6%96%AD%EF%BC%88%E3%83%AC%E3%83%B3%E3%83%88%E3%82%B2%E3%83%B3%E3%83%BBCT%E3%83%BBMRI%EF%BC%89\"><\/span><strong>\u2461 \u753b\u50cf\u8a3a\u65ad\uff08\u30ec\u30f3\u30c8\u30b2\u30f3\u30fbCT\u30fbMRI\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u624b\u306e\u30a8\u30c3\u30af\u30b9\u7dda\uff1a<\/strong>\u6307\u306e\u300c\u5186\u9310\u5f62\u9aa8\u7aef\u300d\u3092\u78ba\u8a8d\u3059\u308b\u5fc5\u9808\u306e\u691c\u67fb\u3067\u3059\u3002\u4e73\u5e7c\u5150\u671f\uff08\u901a\u5e382\u6b73\u4ee5\u964d\uff09\u306b\u306a\u3089\u306a\u3044\u3068\u306f\u3063\u304d\u308a\u73fe\u308c\u306a\u3044\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5168\u8eab\u306e\u30ec\u30f3\u30c8\u30b2\u30f3\uff1a<\/strong>\u591a\u767a\u6027\u5916\u9aa8\u816b\u304c\u3069\u3053\u306b\u3001\u3069\u306e\u7a0b\u5ea6\u3042\u308b\u304b\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>MRI\u30fbCT\uff1a<\/strong>\u5916\u9aa8\u816b\u304c\u795e\u7d4c\u3084\u8840\u7ba1\u3092\u5727\u8feb\u3057\u3066\u3044\u308b\u7591\u3044\u304c\u3042\u308b\u5834\u5408\u3001\u8a73\u7d30\u306a\u4f4d\u7f6e\u95a2\u4fc2\u3092\u628a\u63e1\u3059\u308b\u305f\u3081\u306b\u884c\u308f\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A2_%E9%81%BA%E4%BC%9D%E5%AD%A6%E7%9A%84%E6%A4%9C%E6%9F%BB\"><\/span><strong>\u2462 \u907a\u4f1d\u5b66\u7684\u691c\u67fb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8840\u6db2\u691c\u67fb\u306b\u3088\u3063\u3066\u3001\u67d3\u8272\u4f53\u306e\u72b6\u614b\u3092\u8a73\u3057\u304f\u8abf\u3079\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u67d3\u8272\u4f53<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u691c\u67fb\uff1a<\/strong>\u73fe\u5728\u306e\u8a3a\u65ad\u306b\u304a\u3051\u308b\u30b4\u30fc\u30eb\u30c9\u30b9\u30bf\u30f3\u30c0\u30fc\u30c9\u3067\u3059\u3002TRPS1\u30fbRAD21\u30fbEXT1\u3092\u542b\u3080\u5fae\u7d30\u306a\u6b20\u5931\u3092\u691c\u51fa\u3067\u304d\u3001\u7b2c8\u756a\u67d3\u8272\u4f53\u306e\u3069\u306e\u7bc4\u56f2\u304c\u6b20\u3051\u3066\u3044\u308b\u304b\u3092\u7279\u5b9a\u3067\u304d\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>FISH\u6cd5\uff08\u30d5\u30a3\u30c3\u30b7\u30e5\u6cd5\uff09\uff1a<\/strong>\u7279\u5b9a\u306e\u907a\u4f1d\u5b50\u90e8\u4f4d\u306b\u5149\u308b\u76ee\u5370\uff08\u30d7\u30ed\u30fc\u30d6\uff09\u3092\u3064\u3051\u3066\u6b20\u5931\u306e\u6709\u7121\u3092\u78ba\u8a8d\u3059\u308b\u65b9\u6cd5\u3067\u3059\u3002\u72d9\u3044\u3092\u7d5e\u3063\u3066\u8abf\u3079\u308b\u969b\u306b\u7528\u3044\u3089\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"NIPT%E3%81%A7TRPS2%E3%81%AF%E3%82%8F%E3%81%8B%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B\"><\/span><strong>NIPT\u3067TRPS2\u306f\u308f\u304b\u308a\u307e\u3059\u304b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p><strong>TRPS2\u306f\u7b2c8\u756a\u67d3\u8272\u4f53\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u3067\u3042\u308b\u305f\u3081\u3001\u62e1\u5927\u7248\u306eNIPT\uff08\u65b0\u578b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\uff09\u3067\u5bfe\u8c61\u3068\u306a\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/strong>\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30afNIPT\u3067\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u77e5\u7684\u969c\u5bb3\u304c\u308f\u304b\u308b143\u7a2e\u306e\u5fae\u5c0f\u6b20\u5931\u30fb\u91cd\u8907\u75be\u60a3\u691c\u67fb<\/a>\u306e\u30d1\u30cd\u30eb\u306b\u3001\u30e9\u30f3\u30ac\u30fc\u30fb\u30ae\u30c7\u30aa\u30f3\u75c7\u5019\u7fa4\uff08TRPS2\uff09\u304c\u542b\u307e\u308c\u3066\u3044\u307e\u3059\u3002\u57fa\u672c\u7684\u306a13\u30fb18\u30fb21\u30c8\u30ea\u30bd\u30df\u30fc\u3060\u3051\u3092\u8abf\u3079\u308b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/\">NIPT\uff08\u65b0\u578b\u51fa\u751f\u524d\u8a3a\u65ad\uff09<\/a>\u3068\u306f\u5bfe\u8c61\u7bc4\u56f2\u304c\u9055\u3044\u307e\u3059\u300223\u7a2e\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/microdeletion-syndrome\/\">\u5fae\u5c0f\u6b20\u5931\u30fb\u91cd\u8907\u75be\u60a3\u691c\u67fb<\/a>\u3068\u3082\u7570\u306a\u308b\u305f\u3081\u3001TRPS2\u3092\u542b\u3081\u3066\u8abf\u3079\u305f\u3044\u5834\u5408\u306f\u691c\u67fb\u9805\u76ee\u306e\u78ba\u8a8d\u304c\u6b20\u304b\u305b\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u3053\u3053\u3067\u88dc\u8db3\u3057\u3066\u304a\u304d\u305f\u3044\u306e\u306f\u3001NIPT\u306f\u3042\u304f\u307e\u3067<strong>\u975e\u78ba\u5b9a\u7684\u691c\u67fb<\/strong>\u3060\u3068\u3044\u3046\u70b9\u3067\u3059\u3002\u967d\u6027\u3068\u3044\u3046\u7d50\u679c\u304c\u51fa\u3066\u3082\u8a3a\u65ad\u304c\u78ba\u5b9a\u3059\u308b\u308f\u3051\u3067\u306f\u306a\u304f\u3001\u78ba\u5b9a\u306b\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u306a\u3069\u306e\u78ba\u5b9a\u7684\u691c\u67fb\u304c\u5fc5\u8981\u306b\u306a\u308a\u307e\u3059\u3002\u6975\u3081\u3066\u307e\u308c\u306a\u75be\u60a3\u3067\u3042\u308b\u3076\u3093\u3001\u967d\u6027\u7684\u4e2d\u7387\u3084\u691c\u51fa\u611f\u5ea6\u306b\u3064\u3044\u3066\u3082\u4e8b\u524d\u306e\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u78ba\u8a8d\u3057\u3066\u304a\u304f\u3068\u3001\u7d50\u679c\u3092\u843d\u3061\u7740\u3044\u3066\u53d7\u3051\u6b62\u3081\u3084\u3059\u304f\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%B2%BB%E7%99%82%E3%81%A8%E7%AE%A1%E7%90%86%EF%BC%9A%E5%A4%9A%E8%81%B7%E7%A8%AE%E3%81%AB%E3%82%88%E3%82%8B%E9%95%B7%E6%9C%9F%E7%9A%84%E3%81%AA%E3%82%B5%E3%83%9D%E3%83%BC%E3%83%88\"><\/span>\u6cbb\u7642\u3068\u7ba1\u7406\uff1a\u591a\u8077\u7a2e\u306b\u3088\u308b\u9577\u671f\u7684\u306a\u30b5\u30dd\u30fc\u30c8<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u6b20\u640d\u3057\u305f\u907a\u4f1d\u5b50\u305d\u306e\u3082\u306e\u3092\u5143\u306b\u623b\u3059\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u3001\u73fe\u5728\u306e\u533b\u5b66\u3067\u306f\u5b58\u5728\u3057\u307e\u305b\u3093\u3002<\/strong>\u305d\u306e\u305f\u3081\u6cbb\u7642\u306e\u76ee\u7684\u306f\u300c\u73fe\u308c\u3066\u3044\u308b\u75c7\u72b6\u3078\u306e\u5bfe\u51e6\u300d\u3068\u300c\u5408\u4f75\u75c7\u306e\u4e88\u9632\u300d\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%95%B4%E5%BD%A2%E5%A4%96%E7%A7%91%E7%9A%84%E3%81%AA%E3%82%A2%E3%83%97%E3%83%AD%E3%83%BC%E3%83%81\"><\/span><strong>\u6574\u5f62\u5916\u79d1\u7684\u306a\u30a2\u30d7\u30ed\u30fc\u30c1<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>TRPS2\u306b\u304a\u3044\u3066\u6700\u3082\u7d99\u7d9a\u7684\u306a\u30d5\u30a9\u30ed\u30fc\u304c\u5fc5\u8981\u306a\u306e\u304c\u6574\u5f62\u5916\u79d1\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5916\u9aa8\u816b\u306e\u7d4c\u904e\u89b3\u5bdf\uff1a<\/strong>\u75db\u307f\u304c\u306a\u3044\u3001\u3042\u308b\u3044\u306f\u904b\u52d5\u3092\u59a8\u3052\u306a\u3044\u5916\u9aa8\u816b\u306b\u3064\u3044\u3066\u306f\u3001\u5b9a\u671f\u7684\u306a\u8a3a\u5bdf\u3068\u30ec\u30f3\u30c8\u30b2\u30f3\u3067\u5927\u304d\u3055\u3092\u78ba\u8a8d\u3059\u308b\u306b\u3068\u3069\u3081\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u624b\u8853\uff08\u5207\u9664\u8853\uff09\uff1a<\/strong>\u6fc0\u3057\u3044\u75db\u307f\u304c\u3042\u308b\u3001\u795e\u7d4c\u3092\u5727\u8feb\u3057\u3066\u75fa\u308c\u3084\u9ebb\u75fa\u304c\u3042\u308b\u3001\u95a2\u7bc0\u304c\u52d5\u304b\u306a\u304f\u306a\u308b\u3001\u9aa8\u306e\u5909\u5f62\u3067\u65e5\u5e38\u751f\u6d3b\u306b\u652f\u969c\u304c\u51fa\u308b\u3001\u3068\u3044\u3063\u305f\u5834\u5408\u306b\u691c\u8a0e\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u80a1\u95a2\u7bc0\u306e\u7ba1\u7406\uff1a<\/strong>\u601d\u6625\u671f\u4ee5\u964d\u306b\u75db\u307f\u3084\u53ef\u52d5\u57df\u5236\u9650\u304c\u51fa\u3084\u3059\u3044\u305f\u3081\u3001\u93ae\u75db\u85ac\u3084\u7406\u5b66\u7642\u6cd5\u3067\u6a5f\u80fd\u3092\u4fdd\u3061\u306a\u304c\u3089\u7d4c\u904e\u3092\u898b\u307e\u3059\u3002\u91cd\u75c7\u4f8b\u3067\u306f30\u6b73\u307e\u3067\u306b\u4eba\u5de5\u80a1\u95a2\u7bc0\u3078\u306e\u7f6e\u304d\u63db\u3048\u3092\u691c\u8a0e\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u810a\u67f1\u5074\u5f2f\u75c7\uff08\u305b\u304d\u3061\u3085\u3046\u305d\u304f\u308f\u3093\u3057\u3087\u3046\uff09\u306e\u30c1\u30a7\u30c3\u30af\uff1a<\/strong>\u80cc\u9aa8\u304c\u66f2\u304c\u3063\u3066\u304f\u308b\u3053\u3068\u304c\u3042\u308b\u305f\u3081\u3001\u5b9a\u671f\u7684\u306a\u78ba\u8a8d\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%99%BA%E9%81%94%E3%81%8A%E3%82%88%E3%81%B3%E6%95%99%E8%82%B2%E7%9A%84%E3%82%B5%E3%83%9D%E3%83%BC%E3%83%88\"><\/span><strong>\u767a\u9054\u304a\u3088\u3073\u6559\u80b2\u7684\u30b5\u30dd\u30fc\u30c8<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u77e5\u7684\u306a\u767a\u9054\u306e\u9045\u308c\u3084\u5b66\u7fd2\u9762\u306e\u8ab2\u984c\u306b\u5bfe\u3057\u3066\u306f\u3001\u500b\u3005\u306e\u30da\u30fc\u30b9\u306b\u5408\u308f\u305b\u305f\u652f\u63f4\u304c\u6b20\u304b\u305b\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7642\u80b2\uff08\u767a\u9054\u652f\u63f4\uff09\uff1a<\/strong>\u65e9\u671f\u304b\u3089\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09\u3084\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09\u3092\u53d7\u3051\u308b\u3053\u3068\u3067\u3001\u624b\u5148\u306e\u5668\u7528\u3055\u3084\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u80fd\u529b\u3092\u4f38\u3070\u305b\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7279\u5225\u652f\u63f4\u6559\u80b2\uff1a<\/strong>\u5b66\u6821\u751f\u6d3b\u3067\u306f\u500b\u5225\u306e\u6307\u5c0e\u8a08\u753b\uff08IEP\uff09\u3092\u4f5c\u6210\u3057\u3001\u5f97\u610f\u306a\u3053\u3068\u3092\u4f38\u3070\u3057\u3001\u82e6\u624b\u306a\u90e8\u5206\u306f\u74b0\u5883\u8abf\u6574\u3067\u30ab\u30d0\u30fc\u3059\u308b\u914d\u616e\u304c\u6c42\u3081\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u767a\u9054\u8a55\u4fa1\u306e\u7d99\u7d9a\uff1a<\/strong>GeneReviews\u3067\u306f\u3001\u6210\u9577\u306e\u8a18\u9332\u306b\u52a0\u3048\u3001\u5c31\u5b66\u524d\u307e\u3067\u5e74\u306b\u4e00\u5ea6\u306e\u767a\u9054\u8a55\u4fa1\u3092\u7d99\u7d9a\u3059\u308b\u3053\u3068\u304c\u52e7\u3081\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%9D%E3%81%AE%E4%BB%96%E3%81%AE%E5%B0%82%E9%96%80%E7%A7%91%E3%81%AB%E3%82%88%E3%82%8B%E3%82%B1%E3%82%A2\"><\/span><strong>\u305d\u306e\u4ed6\u306e\u5c02\u9580\u79d1\u306b\u3088\u308b\u30b1\u30a2<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8033\u9f3b\u54bd\u5589\u79d1\uff1a<\/strong>\u96e3\u8074\u306e\u6709\u7121\u3092\u78ba\u8a8d\u3059\u308b\u5b9a\u671f\u7684\u306a\u8074\u529b\u691c\u67fb\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002\u4e2d\u8033\u708e\u306e\u65e9\u671f\u6cbb\u7642\u306f\u8a00\u8449\u306e\u767a\u9054\u3092\u5b88\u308b\u305f\u3081\u306b\u3082\u6b20\u304b\u305b\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li><strong>\u6b6f\u79d1\u30fb\u77ef\u6b63\u6b6f\u79d1\uff1a<\/strong>\u6b6f\u306e\u6b20\u640d\u3084\u4e26\u3073\u306e\u554f\u984c\u306b\u5bfe\u3057\u3001\u65e9\u671f\u304b\u3089\u6b6f\u79d1\u533b\u5e2b\u3068\u76f8\u8ac7\u3057\u3001\u5c06\u6765\u7684\u306a\u77ef\u6b63\u8a08\u753b\u3092\u7acb\u3066\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u76ae\u819a\u79d1\uff1a<\/strong>\u982d\u76ae\u306e\u30b1\u30a2\u3084\u3001\u76ae\u819a\u306e\u5f31\u3055\u306b\u5bfe\u3059\u308b\u30a2\u30c9\u30d0\u30a4\u30b9\u3092\u53d7\u3051\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5185\u5206\u6ccc\u79d1\uff1a<\/strong>\u8457\u3057\u3044\u4f4e\u8eab\u9577\u304c\u3042\u308b\u5834\u5408\u3001\u9aa8\u7aef\u7dda\u306e\u72b6\u614b\u3092\u78ba\u8a8d\u3057\u305f\u3046\u3048\u3067\u6210\u9577\u30db\u30eb\u30e2\u30f3\u7642\u6cd5\u306e\u53ef\u80fd\u6027\u304c\u8a71\u3057\u5408\u308f\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u5916\u9aa8\u816b\u3078\u306e\u5f71\u97ff\u3092\u8003\u3048\u3001\u614e\u91cd\u306b\u5224\u65ad\u3055\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5faa\u74b0\u5668\u79d1\uff1a<\/strong>\u8a3a\u65ad\u304c\u3064\u3044\u305f\u6642\u70b9\u3067\u4e00\u5ea6\u3001\u5fc3\u81d3\u306e\u8a55\u4fa1\uff08\u5fc3\u30a8\u30b3\u30fc\u306a\u3069\uff09\u3092\u53d7\u3051\u3066\u304a\u304f\u3053\u3068\u3082\u3001\u5168\u8eab\u7ba1\u7406\u306e\u4e00\u74b0\u3068\u3057\u3066\u52e7\u3081\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%B3%A8%E6%84%8F%E3%81%99%E3%81%B9%E3%81%8D%E7%82%B9%EF%BC%9A%E6%82%AA%E6%80%A7%E5%8C%96%E3%81%AE%E7%9B%A3%E8%A6%96\"><\/span><strong>\u6ce8\u610f\u3059\u3079\u304d\u70b9\uff1a\u60aa\u6027\u5316\u306e\u76e3\u8996<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5916\u9aa8\u816b\u306fEXT1\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u306b\u3088\u3063\u3066\u751f\u3058\u307e\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306f\u3001\u907a\u4f1d\u6027\u591a\u767a\u6027\u5916\u9aa8\u816b\u75c7\uff08HME\uff09\u3068\u3082\u5171\u901a\u3057\u3066\u3044\u307e\u3059\u3002HME\u306e\u5831\u544a\u3067\u306f\u3001\u601d\u6625\u671f\u4ee5\u964d\u306b\u826f\u6027\u306e\u5916\u9aa8\u816b\u304c\u300c\u8edf\u9aa8\u8089\u816b\u300d\u3068\u3044\u3046\u60aa\u6027\u816b\u760d\u3078\u5909\u5316\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u983b\u5ea6\u306f\u6587\u732e\u306b\u3088\u3063\u3066\u5dee\u304c\u3042\u308b\u3082\u306e\u306e\u3001\u6570%\u7a0b\u5ea6\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u6025\u306b\u3053\u3076\u304c\u5927\u304d\u304f\u306a\u3063\u305f\u3001\u6210\u4eba\u5f8c\u306b\u75db\u307f\u304c\u51fa\u3066\u304d\u305f\u3001\u3068\u3044\u3063\u305f\u5834\u5408\u306b\u306f\u3001\u901f\u3084\u304b\u306b\u5c02\u9580\u533b\u3092\u53d7\u8a3a\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<div style=\"text-align:center;margin:2em 0;\"><a href=\"https:\/\/mypage-nipt-reservation.hiro-clinic.or.jp\/registration\" target=\"_blank\" rel=\"noopener\" style=\"display:inline-block;padding:0.8em 2em;background:#e8608a;color:#fff;border-radius:30px;text-decoration:none;font-weight:bold;\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30afNIPT\u306e\u4e88\u7d04\u306f\u3053\u3061\u3089<\/a><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"640\" height=\"426\" src=\"\/nipt\/wp-content\/uploads\/2026\/01\/4211835_s.webp\" alt=\"\u8d64\u3061\u3083\u3093\" class=\"wp-image-121513\"\/><\/figure><\/div>\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>TRPS2\uff08\u30e9\u30f3\u30ac\u30fc\u30fb\u30ae\u30c7\u30aa\u30f3\u75c7\u5019\u7fa4\uff09\u306f\u3001\u6bdb\u9aea\u3001\u9f3b\u3001\u6307\u3001\u305d\u3057\u3066\u5168\u8eab\u306e\u9aa8\u306b\u7279\u5fb4\u3092\u6301\u3064\u75c7\u5019\u7fa4\u3067\u3059\u3002\u539f\u56e0\u306f\u3001\u7b2c8\u756a\u67d3\u8272\u4f53\u306b\u3042\u308bTRPS1\u30fbRAD21\u30fbEXT1\u3068\u3044\u30463\u3064\u306e\u907a\u4f1d\u5b50\u306e\u9023\u7d9a\u6b20\u5931\u3067\u660e\u78ba\u3067\u3059\u3002\u305f\u3060\u3057\u3001\u75c7\u72b6\u306e\u73fe\u308c\u65b9\u306f\u4e00\u4eba\u3072\u3068\u308a\u3067\u5927\u304d\u304f\u7570\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<figure class=\"wp-block-table\"><table class=\"has-fixed-layout\"><tbody><tr><td><strong>\u7279\u5fb4\u7684\u306a\u75c7\u72b6<\/strong><\/td><td><strong>\u4e3b\u306a\u5bfe\u7b56<\/strong><\/td><\/tr><tr><td><strong>\u8584\u3044\u6bdb\u9aea\u30fb\u68a8\u72b6\u9f3b<\/strong><\/td><td>\u5916\u898b\u7684\u306a\u30b1\u30a2\u3001\u81ea\u4fe1\u3092\u80b2\u3080\u30b5\u30dd\u30fc\u30c8<\/td><\/tr><tr><td><strong>\u591a\u767a\u6027\u5916\u9aa8\u816b<\/strong><\/td><td>\u6574\u5f62\u5916\u79d1\u306b\u3088\u308b\u5b9a\u671f\u7684\u306a\u30ec\u30f3\u30c8\u30b2\u30f3\u76e3\u8996\u3001\u5fc5\u8981\u6642\u306e\u624b\u8853<\/td><\/tr><tr><td><strong>\u6307\u306e\u5186\u9310\u5f62\u9aa8\u7aef<\/strong><\/td><td>\u624b\u5148\u306e\u8a13\u7df4\uff08\u4f5c\u696d\u7642\u6cd5\uff09\u3001\u95a2\u7bc0\u306e\u4fdd\u8b77<\/td><\/tr><tr><td><strong>\u80a1\u95a2\u7bc0\u306e\u554f\u984c<\/strong><\/td><td>\u93ae\u75db\u85ac\u30fb\u7406\u5b66\u7642\u6cd5\u3001\u91cd\u75c7\u4f8b\u306f\u4eba\u5de5\u80a1\u95a2\u7bc0\u3092\u691c\u8a0e<\/td><\/tr><tr><td><strong>\u767a\u9054\u30fb\u77e5\u80fd\u306e\u9045\u308c<\/strong><\/td><td>\u500b\u5225\u6307\u5c0e\u3001\u65e9\u671f\u7642\u80b2\u3001\u8a00\u8a9e\u8a13\u7df4<\/td><\/tr><tr><td><strong>\u8074\u899a\u30fb\u6b6f\u79d1\u306e\u554f\u984c<\/strong><\/td><td>\u5b9a\u671f\u7684\u306a\u5c02\u9580\u79d1\u53d7\u8a3a\u3001\u65e9\u671f\u4ecb\u5165<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306e\u7ba1\u7406\u3067\u3082\u3063\u3068\u3082\u5927\u5207\u306a\u306e\u306f\u3001\u8907\u6570\u306e\u8a3a\u7642\u79d1\u3068\u6559\u80b2\u6a5f\u95a2\u306e\u9023\u643a\u3002\u5c0f\u5150\u79d1\u3001\u6574\u5f62\u5916\u79d1\u3001\u8033\u9f3b\u79d1\u3001\u6b6f\u79d1\u304c\u30c1\u30fc\u30e0\u3067\u304a\u5b50\u3055\u3093\u3092\u652f\u3048\u3066\u3044\u304f\u3053\u3068\u3067\u3059\u3002\u5916\u9aa8\u816b\u3092\u4f34\u3046\u4ed6\u306e\u96a3\u63a5\u907a\u4f1d\u5b50\u75c7\u5019\u7fa4\u3068\u3057\u3066\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/potocki-shaffer-syndrome\/\">11p11.2\u6b20\u5931\u75c7\u5019\u7fa4\uff08\u30dd\u30c8\u30c4\u30ad\u30fb\u30b7\u30e3\u30c3\u30d5\u30a1\u30fc\u75c7\u5019\u7fa4\uff09<\/a>\u3082\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u4f3c\u305f\u75c7\u72b6\u3092\u6301\u3064\u75be\u60a3\u3092\u77e5\u3063\u3066\u304a\u304f\u3068\u3001\u8a3a\u7642\u79d1\u3054\u3068\u306e\u5f79\u5272\u306e\u9055\u3044\u3082\u7406\u89e3\u3057\u3084\u3059\u304f\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%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>\u5bb6\u65cf\u3078\u306e\u30e1\u30c3\u30bb\u30fc\u30b8<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u300cTRPS2\u300d\u3068\u3044\u3046\u8a3a\u65ad\u540d\u3092\u805e\u3044\u305f\u3068\u304d\u3001\u591a\u304f\u306e\u3054\u5bb6\u65cf\u306f\u8a00\u8449\u306b\u3067\u304d\u306a\u3044\u307b\u3069\u306e\u4e0d\u5b89\u3092\u611f\u3058\u308b\u3082\u306e\u3067\u3059\u3002\u30a4\u30f3\u30bf\u30fc\u30cd\u30c3\u30c8\u3067\u691c\u7d22\u3057\u3066\u3082\u3001\u96e3\u3057\u3044\u533b\u5b66\u7528\u8a9e\u3084\u3001\u6975\u7aef\u306b\u91cd\u75c7\u306a\u75c7\u4f8b\u306e\u5199\u771f\u3070\u304b\u308a\u304c\u51fa\u3066\u304d\u3066\u3001\u5c06\u6765\u3092\u60b2\u89b3\u3057\u3066\u3057\u307e\u3046\u3053\u3068\u3082\u3042\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u899a\u3048\u3066\u304a\u3044\u3066\u3044\u305f\u3060\u304d\u305f\u3044\u306e\u306f\u3001\u533b\u5b66\u7684\u306a\u300c\u75c7\u72b6\u30ea\u30b9\u30c8\u300d\u3060\u3051\u304c\u304a\u5b50\u3055\u3093\u306e\u3059\u3079\u3066\u3067\u306f\u306a\u3044\u3068\u3044\u3046\u3053\u3068\u3067\u3059\u3002TRPS2\u3092\u6301\u3064\u304a\u5b50\u3055\u3093\u305f\u3061\u306f\u3001\u305d\u308c\u305e\u308c\u306e\u30da\u30fc\u30b9\u3067\u78ba\u5b9f\u306b\u6210\u9577\u3057\u3001\u72ec\u81ea\u306e\u611f\u6027\u3084\u624d\u80fd\u3092\u767a\u63ee\u3057\u3066\u3044\u307e\u3059\u3002\u79c1\u304c\u8a3a\u7642\u306e\u5834\u3067\u63a5\u3057\u3066\u304d\u305f\u9650\u308a\u3067\u3082\u3001\u75c7\u72b6\u306e\u91cd\u3055\u3068\u65e5\u3005\u306e\u7b11\u9854\u306e\u8c4a\u304b\u3055\u306f\u3001\u5fc5\u305a\u3057\u3082\u6bd4\u4f8b\u3057\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%97%A5%E5%B8%B8%E7%94%9F%E6%B4%BB%E3%81%A7%E5%BF%83%E3%81%8C%E3%81%91%E3%81%9F%E3%81%84%E3%81%93%E3%81%A8\"><\/span><strong>\u65e5\u5e38\u751f\u6d3b\u3067\u5fc3\u304c\u3051\u305f\u3044\u3053\u3068<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>\u300c\u3044\u307e\u300d\u3067\u304d\u308b\u3053\u3068\u306b\u76ee\u3092\u5411\u3051\u308b\uff1a<\/strong>\u5c06\u6765\u306e\u4e0d\u5b89\u306f\u5c3d\u304d\u307e\u305b\u3093\u304c\u3001\u3044\u3061\u3070\u3093\u5927\u5207\u306a\u306e\u306f\u300c\u3044\u307e\u300d\u306e\u5c0f\u3055\u306a\u6210\u9577\u3092\u559c\u3076\u6642\u9593\u3002\u304a\u5b50\u3055\u3093\u304c\u4f55\u306b\u8208\u5473\u3092\u6301\u3061\u3001\u4f55\u304c\u3067\u304d\u308b\u3088\u3046\u306b\u306a\u3063\u305f\u304b\u306b\u76ee\u3092\u5411\u3051\u3066\u304f\u3060\u3055\u3044\u3002<\/li>\n\n\n\n<li><strong>\u76f8\u8ac7\u5148\u3092\u8907\u6570\u6301\u3064\uff1a<\/strong>\u4e3b\u6cbb\u533b\u3060\u3051\u3067\u306a\u304f\u3001\u7642\u80b2\u30bb\u30f3\u30bf\u30fc\u306e\u30b9\u30bf\u30c3\u30d5\u3001\u5b66\u6821\u306e\u5148\u751f\u3001\u3042\u308b\u3044\u306f\u540c\u3058\u3088\u3046\u306a\u75be\u60a3\u3092\u6301\u3064\u5bb6\u65cf\u4f1a\u306a\u3069\u3001\u6c17\u6301\u3061\u3092\u5171\u6709\u3067\u304d\u308b\u5834\u6240\u3092\u898b\u3064\u3051\u3066\u304f\u3060\u3055\u3044\u3002<\/li>\n\n\n\n<li><strong>\u60c5\u5831\u3092\u9078\u5225\u3059\u308b\uff1a<\/strong>\u533b\u5b66\u60c5\u5831\u306f\u5e38\u306b\u66f4\u65b0\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u53e4\u3044\u60c5\u5831\u3084\u51fa\u6240\u306e\u4e0d\u660e\u306a\u60c5\u5831\u306b\u632f\u308a\u56de\u3055\u308c\u305a\u3001\u5c02\u9580\u533b\u306b\u3088\u308b\u6700\u65b0\u306e\u898b\u89e3\u3092\u53c2\u8003\u306b\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/li>\n\n\n\n<li><strong>\u304a\u5b50\u3055\u3093\u306e\u81ea\u5df1\u80af\u5b9a\u611f\u3092\u80b2\u3080\uff1a<\/strong>\u5916\u898b\u306b\u7279\u5fb4\u304c\u3042\u308b\u3053\u3068\u3067\u3001\u6210\u9577\u904e\u7a0b\u3067\u81ea\u610f\u8b58\u3092\u6301\u3064\u6642\u671f\u304c\u6765\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002\u300c\u81ea\u5206\u306f\u611b\u3055\u308c\u3066\u3044\u308b\u5b58\u5728\u3060\u300d\u3068\u5f37\u304f\u611f\u3058\u3089\u308c\u308b\u74b0\u5883\u3065\u304f\u308a\u304c\u3001\u4f55\u3088\u308a\u306e\u652f\u3048\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ol>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306f\u78ba\u304b\u306b\u591a\u304f\u306e\u30b5\u30dd\u30fc\u30c8\u3092\u5fc5\u8981\u3068\u3057\u307e\u3059\u304c\u3001\u9069\u5207\u306a\u30b1\u30a2\u3068\u7406\u89e3\u304c\u3042\u308c\u3070\u3001\u304a\u5b50\u3055\u3093\u306f\u8c4a\u304b\u3067\u81ea\u7acb\u3057\u305f\u751f\u6d3b\u3092\u9001\u308b\u3053\u3068\u304c\u5341\u5206\u306b\u53ef\u80fd\u3067\u3059\u3002\u96e3\u75c5\u3084\u5e0c\u5c11\u75be\u60a3\u306b\u95a2\u3059\u308b\u516c\u7684\u306a\u60c5\u5831\u306f<a href=\"https:\/\/www.nanbyou.or.jp\/\" target=\"_blank\" rel=\"noopener\">\u96e3\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/a>\u304c\u53c2\u8003\u306b\u306a\u308a\u307e\u3059\u3002\u304a\u5b50\u3055\u3093\u306e\u533b\u7642\u8cbb\u52a9\u6210\u3084\u652f\u63f4\u5236\u5ea6\u306f<a href=\"https:\/\/www.shouman.jp\/\" target=\"_blank\" rel=\"noopener\">\u5c0f\u5150\u6162\u6027\u7279\u5b9a\u75be\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/a>\u3067\u78ba\u8a8d\u3067\u304d\u307e\u3059\u3002\u7126\u3089\u305a\u3001\u4e00\u6b69\u305a\u3064\u3001\u304a\u5b50\u3055\u3093\u306e\u6b69\u307f\u306b\u5bc4\u308a\u6dfb\u3063\u3066\u3044\u304d\u307e\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<div style=\"text-align:center;margin:2em 0;\"><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/line-registration\/\" target=\"_blank\" rel=\"noopener\" style=\"display:inline-block;padding:0.8em 2em;background:#e8608a;color:#fff;border-radius:30px;text-decoration:none;font-weight:bold;\">\u598a\u5a20\u4e2d\u306e\u4e0d\u5b89\u3092LINE\u3067\u7121\u6599\u76f8\u8ac7\u3059\u308b<\/a><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%82%88%E3%81%8F%E3%81%82%E3%82%8B%E8%B3%AA%E5%95%8F\"><\/span>\u3088\u304f\u3042\u308b\u8cea\u554f<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_TRPS2%E3%81%A8TRPS1%EF%BC%88I%E5%9E%8B%EF%BC%89%E3%80%81TRPS3%EF%BC%88III%E5%9E%8B%EF%BC%89%E3%81%AE%E9%81%95%E3%81%84%E3%81%AF%E4%BD%95%E3%81%A7%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span><strong>Q. TRPS2\u3068TRPS1\uff08I\u578b\uff09\u3001TRPS3\uff08III\u578b\uff09\u306e\u9055\u3044\u306f\u4f55\u3067\u3059\u304b\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>I\u578b\u30fbIII\u578b\u306fTRPS1\u907a\u4f1d\u5b50\u5358\u72ec\u306e\u5909\u7570\u3067\u8d77\u3053\u308a\u30012023\u5e74\u306e\u56fd\u969b\u5206\u985e\u6539\u5b9a\u3067\u3053\u306e2\u3064\u306f\u300c1\/3\u578b\u300d\u3068\u3044\u3046\u4e00\u3064\u306e\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u306b\u7d71\u5408\u3055\u308c\u307e\u3057\u305f\u3002TRPS2\uff08II\u578b\uff09\u306fTRPS1\u306b\u52a0\u3048\u3066RAD21\u30fbEXT1\u3082\u5931\u308f\u308c\u308b\u9023\u7d9a\u907a\u4f1d\u5b50\u6b20\u5931\u3067\u8d77\u3053\u308a\u3001\u591a\u767a\u6027\u5916\u9aa8\u816b\u3084\u9ad8\u3044\u983b\u5ea6\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3092\u4f34\u3046\u70b9\u304c\u7570\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_TRPS2%E3%81%AF%E9%81%BA%E4%BC%9D%E3%81%97%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span><strong>Q. TRPS2\u306f\u907a\u4f1d\u3057\u307e\u3059\u304b\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u307b\u3068\u3093\u3069\u306e\u75c7\u4f8b\u306f\u5b64\u767a\u4f8b\u3067\u3001\u3054\u4e21\u89aa\u306e\u3069\u3061\u3089\u304b\u304b\u3089\u907a\u4f1d\u3057\u305f\u3082\u306e\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u307e\u308c\u306b\u89aa\u304b\u3089\u53d7\u3051\u7d99\u3050\u5834\u5408\u306f\u5e38\u67d3\u8272\u4f53\u9855\u6027\u907a\u4f1d\u306e\u5f62\u5f0f\u3092\u3068\u308a\u3001\u304a\u5b50\u3055\u3093\u3078\u4f1d\u308f\u308b\u78ba\u7387\u306f50%\u3067\u3059\u3002\u4e21\u89aa\u306e\u691c\u67fb\u304c\u9670\u6027\u3067\u3082\u3001\u3054\u304f\u308f\u305a\u304b\u306a\u518d\u767a\u30ea\u30b9\u30af\u304c\u6b8b\u308b\u305f\u3081\u3001\u6b21\u306e\u598a\u5a20\u3092\u8003\u3048\u308b\u969b\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=\"Q_NIPT%E3%81%A7TRPS2%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><strong>Q. NIPT\u3067TRPS2\u306f\u308f\u304b\u308a\u307e\u3059\u304b\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30afNIPT\u3067\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u304c\u308f\u304b\u308b143\u7a2e\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u30fb\u91cd\u8907\u75be\u60a3\u691c\u67fb\u306e\u30d1\u30cd\u30eb\u306b\u30e9\u30f3\u30ac\u30fc\u30fb\u30ae\u30c7\u30aa\u30f3\u75c7\u5019\u7fa4\uff08TRPS2\uff09\u304c\u542b\u307e\u308c\u3066\u3044\u307e\u3059\u3002\u305f\u3060\u3057NIPT\u306f\u975e\u78ba\u5b9a\u7684\u691c\u67fb\u3067\u3042\u308a\u3001\u967d\u6027\u306e\u5834\u5408\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u306a\u3069\u306e\u78ba\u5b9a\u691c\u67fb\u304c\u5fc5\u8981\u3067\u3059\u3002\u57fa\u672c\u306e13\u30fb18\u30fb21\u30c8\u30ea\u30bd\u30df\u30fc\u691c\u67fb\u308423\u7a2e\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u691c\u67fb\u3068\u306f\u5bfe\u8c61\u7bc4\u56f2\u304c\u7570\u306a\u308b\u305f\u3081\u3001\u4e8b\u524d\u306b\u691c\u67fb\u9805\u76ee\u3092\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=\"Q_%E5%A4%9A%E7%99%BA%E6%80%A7%E5%A4%96%E9%AA%A8%E8%85%AB%E3%81%AF%E3%81%8C%E3%82%93%E5%8C%96%E3%81%97%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span><strong>Q. \u591a\u767a\u6027\u5916\u9aa8\u816b\u306f\u304c\u3093\u5316\u3057\u307e\u3059\u304b\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u307b\u3068\u3093\u3069\u306e\u5916\u9aa8\u816b\u306f\u826f\u6027\u306e\u307e\u307e\u7d4c\u904e\u3057\u307e\u3059\u304c\u3001\u539f\u56e0\u907a\u4f1d\u5b50\u3067\u3042\u308bEXT1\u306f\u907a\u4f1d\u6027\u591a\u767a\u6027\u5916\u9aa8\u816b\u75c7\u3068\u3082\u5171\u901a\u3057\u3066\u304a\u308a\u3001\u6210\u4eba\u671f\u4ee5\u964d\u306b\u8edf\u9aa8\u8089\u816b\u3078\u60aa\u6027\u8ee2\u5316\u3059\u308b\u983b\u5ea6\u304c\u6570%\u7a0b\u5ea6\u3042\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u6025\u6fc0\u306a\u5897\u5927\u3084\u65b0\u305f\u306a\u75db\u307f\u304c\u51fa\u305f\u5834\u5408\u306f\u3001\u901f\u3084\u304b\u306b\u5c02\u9580\u533b\u3078\u76f8\u8ac7\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_%E7%9F%A5%E7%9A%84%E9%9A%9C%E5%AE%B3%E3%81%AF%E3%81%A9%E3%81%AE%E7%A8%8B%E5%BA%A6%E3%81%A7%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span><strong>Q. \u77e5\u7684\u969c\u5bb3\u306f\u3069\u306e\u7a0b\u5ea6\u3067\u3059\u304b\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>GeneReviews\u306b\u3088\u308b\u3068\u3001TRPS2\u3067\u306f\u8efd\u5ea6\u304b\u3089\u4e2d\u7b49\u5ea6\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u304c\u7d0450\u301c60%\u306b\u898b\u3089\u308c\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u305f\u3060\u3057\u500b\u4eba\u5dee\u304c\u5927\u304d\u304f\u3001\u5b66\u7fd2\u9762\u306e\u30b5\u30dd\u30fc\u30c8\u3092\u53d7\u3051\u306a\u304c\u3089\u591a\u304f\u306e\u3053\u3068\u3092\u7fd2\u5f97\u3067\u304d\u308b\u304a\u5b50\u3055\u3093\u3082\u5c11\u306a\u304f\u3042\u308a\u307e\u305b\u3093\u3002\u65e9\u671f\u304b\u3089\u306e\u7642\u80b2\u958b\u59cb\u304c\u529b\u3092\u4f38\u3070\u3059\u52a9\u3051\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_%E4%BD%95%E7%A7%91%E3%82%92%E5%8F%97%E8%A8%BA%E3%81%99%E3%82%8C%E3%81%B0%E3%82%88%E3%81%84%E3%81%A7%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span><strong>Q. \u4f55\u79d1\u3092\u53d7\u8a3a\u3059\u308c\u3070\u3088\u3044\u3067\u3059\u304b\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u307e\u305a\u306f\u5c0f\u5150\u79d1\u307e\u305f\u306f\u81e8\u5e8a\u907a\u4f1d\u3092\u5c02\u9580\u3068\u3059\u308b\u533b\u5e2b\u306b\u76f8\u8ac7\u3057\u3066\u304f\u3060\u3055\u3044\u3002\u305d\u306e\u5f8c\u306f\u6574\u5f62\u5916\u79d1\uff08\u5916\u9aa8\u816b\u30fb\u80a1\u95a2\u7bc0\uff09\u3001\u8033\u9f3b\u54bd\u5589\u79d1\uff08\u8074\u529b\uff09\u3001\u6b6f\u79d1\u3001\u5185\u5206\u6ccc\u79d1\u3068\u9023\u643a\u3057\u307e\u3059\u3002\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u5faa\u74b0\u5668\u79d1\u3082\u52a0\u308f\u308a\u3001\u7d4c\u904e\u3092\u898b\u3066\u3044\u304f\u306e\u304c\u4e00\u822c\u7684\u3067\u3059\u3002<\/p>\n\n\n\n<div style=\"border:1px solid #f0d0dc;border-radius:12px;padding:1.2em 1.4em;margin:2.5rem 0 1rem;background:#fffafc;\">\n<p style=\"margin:0 0 0.4em;font-weight:bold;\">\u8457\u8005\u30fb\u76e3\u4fee<\/p>\n<p style=\"margin:0;\">\u5ca1 \u535a\u53f2\uff08\u304a\u304b \u3072\u308d\u3057\uff09\uff0f\u533b\u7642\u6cd5\u4eba\u793e\u56e3\u798f\u7f8e\u4f1a \u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u7d71\u62ec\u9662\u9577\u30fbLabo Director\uff08\u30e9\u30dc\u30c7\u30a3\u30ec\u30af\u30bf\u30fc\uff09\u3002\u6176\u61c9\u7fa9\u587e\u5927\u5b66\u533b\u5b66\u90e8\u5352\u696d\u5f8c\u3001\u65e5\u672c\u3068\u7c73\u56fd\u306e\u533b\u5e2b\u56fd\u5bb6\u8a66\u9a13\u306b\u5408\u683c\u3057\u3001\u533b\u5b66\u535a\u58eb\u3092\u53d6\u5f97\u3002\u65e5\u672c\u306b\u7d0420\u4eba\u3057\u304b\u3044\u306a\u3044\u30e9\u30dc\u30c7\u30a3\u30ec\u30af\u30bf\u30fc\u8cc7\u683c\u3092\u4fdd\u6709\u3002YouTube\u300c\u3072\u308d\u3057\u5148\u751f\u306e\u6b63\u3057\u3044\u30a8\u30d3\u30c7\u30f3\u30b9\u598a\u5a20ch\u300d\u306a\u3069\u3067\u3001\u30a8\u30d3\u30c7\u30f3\u30b9\u306b\u3082\u3068\u3065\u304f\u598a\u5a20\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u306e\u60c5\u5831\u3092\u767a\u4fe1\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n<\/div>\n\n\n\n<script type=\"application\/ld+json\">\n{\n  \"@context\": \"https:\/\/schema.org\",\n  \"@type\": \"FAQPage\",\n  \"mainEntity\": [\n    {\"@type\":\"Question\",\"name\":\"TRPS2\u3068TRPS1\uff08I\u578b\uff09\u3001TRPS3\uff08III\u578b\uff09\u306e\u9055\u3044\u306f\u4f55\u3067\u3059\u304b\uff1f\",\"acceptedAnswer\":{\"@type\":\"Answer\",\"text\":\"I\u578b\u30fbIII\u578b\u306fTRPS1\u907a\u4f1d\u5b50\u5358\u72ec\u306e\u5909\u7570\u3067\u8d77\u3053\u308a\u30012023\u5e74\u306e\u56fd\u969b\u5206\u985e\u6539\u5b9a\u3067\u3053\u306e2\u3064\u306f\u300c1\/3\u578b\u300d\u3068\u3044\u3046\u4e00\u3064\u306e\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u306b\u7d71\u5408\u3055\u308c\u307e\u3057\u305f\u3002TRPS2\uff08II\u578b\uff09\u306fTRPS1\u306b\u52a0\u3048\u3066RAD21\u30fbEXT1\u3082\u5931\u308f\u308c\u308b\u9023\u7d9a\u907a\u4f1d\u5b50\u6b20\u5931\u3067\u8d77\u3053\u308a\u3001\u591a\u767a\u6027\u5916\u9aa8\u816b\u3084\u9ad8\u3044\u983b\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u3092\u4f34\u3046\u70b9\u304c\u7570\u306a\u308a\u307e\u3059\u3002\"}},\n    {\"@type\":\"Question\",\"name\":\"TRPS2\u306f\u907a\u4f1d\u3057\u307e\u3059\u304b\uff1f\",\"acceptedAnswer\":{\"@type\":\"Answer\",\"text\":\"\u307b\u3068\u3093\u3069\u306e\u75c7\u4f8b\u306f\u5b64\u767a\u4f8b\u3067\u3001\u3054\u4e21\u89aa\u306e\u3069\u3061\u3089\u304b\u304b\u3089\u907a\u4f1d\u3057\u305f\u3082\u306e\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u307e\u308c\u306b\u89aa\u304b\u3089\u53d7\u3051\u7d99\u3050\u5834\u5408\u306f\u5e38\u67d3\u8272\u4f53\u9855\u6027\u907a\u4f1d\u306e\u5f62\u5f0f\u3092\u3068\u308a\u3001\u304a\u5b50\u3055\u3093\u3078\u4f1d\u308f\u308b\u78ba\u7387\u306f50%\u3067\u3059\u3002\u4e21\u89aa\u306e\u691c\u67fb\u304c\u9670\u6027\u3067\u3082\u3001\u3054\u304f\u308f\u305a\u304b\u306a\u518d\u767a\u30ea\u30b9\u30af\u304c\u6b8b\u308b\u305f\u3081\u3001\u6b21\u306e\u598a\u5a20\u3092\u8003\u3048\u308b\u969b\u306f\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u78ba\u8a8d\u3057\u3066\u304f\u3060\u3055\u3044\u3002\"}},\n    {\"@type\":\"Question\",\"name\":\"NIPT\u3067TRPS2\u306f\u308f\u304b\u308a\u307e\u3059\u304b\uff1f\",\"acceptedAnswer\":{\"@type\":\"Answer\",\"text\":\"\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30afNIPT\u3067\u306f\u3001\u77e5\u7684\u969c\u5bb3\u304c\u308f\u304b\u308b143\u7a2e\u306e\u5fae\u5c0f\u6b20\u5931\u30fb\u91cd\u8907\u75be\u60a3\u691c\u67fb\u306e\u30d1\u30cd\u30eb\u306b\u30e9\u30f3\u30ac\u30fc\u30fb\u30ae\u30c7\u30aa\u30f3\u75c7\u5019\u7fa4\uff08TRPS2\uff09\u304c\u542b\u307e\u308c\u3066\u3044\u307e\u3059\u3002\u305f\u3060\u3057NIPT\u306f\u975e\u78ba\u5b9a\u7684\u691c\u67fb\u3067\u3042\u308a\u3001\u967d\u6027\u306e\u5834\u5408\u306f\u7f8a\u6c34\u691c\u67fb\u306a\u3069\u306e\u78ba\u5b9a\u691c\u67fb\u304c\u5fc5\u8981\u3067\u3059\u3002\u57fa\u672c\u306e13\u30fb18\u30fb21\u30c8\u30ea\u30bd\u30df\u30fc\u691c\u67fb\u308423\u7a2e\u306e\u5fae\u5c0f\u6b20\u5931\u691c\u67fb\u3068\u306f\u5bfe\u8c61\u7bc4\u56f2\u304c\u7570\u306a\u308b\u305f\u3081\u3001\u4e8b\u524d\u306b\u691c\u67fb\u9805\u76ee\u3092\u78ba\u8a8d\u3057\u3066\u304f\u3060\u3055\u3044\u3002\"}},\n 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{\"@type\":\"Question\",\"name\":\"\u77e5\u7684\u969c\u5bb3\u306f\u3069\u306e\u7a0b\u5ea6\u3067\u3059\u304b\uff1f\",\"acceptedAnswer\":{\"@type\":\"Answer\",\"text\":\"GeneReviews\u306b\u3088\u308b\u3068\u3001TRPS2\u3067\u306f\u8efd\u5ea6\u304b\u3089\u4e2d\u7b49\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u304c\u7d0450\u301c60%\u306b\u898b\u3089\u308c\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u305f\u3060\u3057\u500b\u4eba\u5dee\u304c\u5927\u304d\u304f\u3001\u5b66\u7fd2\u9762\u306e\u30b5\u30dd\u30fc\u30c8\u3092\u53d7\u3051\u306a\u304c\u3089\u591a\u304f\u306e\u3053\u3068\u3092\u7fd2\u5f97\u3067\u304d\u308b\u304a\u5b50\u3055\u3093\u3082\u5c11\u306a\u304f\u3042\u308a\u307e\u305b\u3093\u3002\u65e9\u671f\u304b\u3089\u306e\u7642\u80b2\u958b\u59cb\u304c\u529b\u3092\u4f38\u3070\u3059\u52a9\u3051\u306b\u306a\u308a\u307e\u3059\u3002\"}},\n    {\"@type\":\"Question\",\"name\":\"\u4f55\u79d1\u3092\u53d7\u8a3a\u3059\u308c\u3070\u3088\u3044\u3067\u3059\u304b\uff1f\",\"acceptedAnswer\":{\"@type\":\"Answer\",\"text\":\"\u307e\u305a\u306f\u5c0f\u5150\u79d1\u307e\u305f\u306f\u81e8\u5e8a\u907a\u4f1d\u3092\u5c02\u9580\u3068\u3059\u308b\u533b\u5e2b\u306b\u76f8\u8ac7\u3057\u3066\u304f\u3060\u3055\u3044\u3002\u305d\u306e\u5f8c\u3001\u6574\u5f62\u5916\u79d1\uff08\u5916\u9aa8\u816b\u30fb\u80a1\u95a2\u7bc0\uff09\u3001\u8033\u9f3b\u54bd\u5589\u79d1\uff08\u8074\u529b\uff09\u3001\u6b6f\u79d1\u3001\u5185\u5206\u6ccc\u79d1\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u5faa\u74b0\u5668\u79d1\u306a\u3069\u3001\u8907\u6570\u306e\u5c02\u9580\u79d1\u3068\u9023\u643a\u3057\u306a\u304c\u3089\u7d4c\u904e\u3092\u898b\u3066\u3044\u304f\u306e\u304c\u4e00\u822c\u7684\u3067\u3059\u3002\"}}\n  ]\n}\n<\/script>\n\n\n\n<p style=\"font-size:0.85em;color:#888;\">\u53c2\u8003\u6587\u732e\uff1a<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK425926\/\" target=\"_blank\" rel=\"noopener\">GeneReviews\u300cTrichorhinophalangeal Syndrome\u300d<\/a> \uff0f <a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/7801\/langer-giedion-syndrome\" target=\"_blank\" rel=\"noopener\">GARD\uff08NIH Genetic and Rare Diseases Information Center\uff09<\/a> \uff0f <a href=\"https:\/\/www.orpha.net\/en\/disease\/detail\/502\" target=\"_blank\" rel=\"noopener\">Orphanet\u300cTrichorhinophalangeal syndrome type 2\u300d<\/a><\/p>\n\n","protected":false},"excerpt":{"rendered":"\u3053\u306e\u8a18\u4e8b\u306e\u307e\u3068\u3081TRPS2\uff08\u6bdb\u9aea\u30fb\u9f3b\u30fb\u6307&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/trps2-langer-giedion-syndrome\/\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":122,"featured_media":121744,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[1392],"tags":[],"class_list":["post-121742","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\/121742","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=121742"}],"version-history":[{"count":3,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/121742\/revisions"}],"predecessor-version":[{"id":134230,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/121742\/revisions\/134230"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/121744"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=121742"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=121742"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=121742"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}