{"id":122379,"date":"2026-01-13T13:06:46","date_gmt":"2026-01-13T04:06:46","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=122379"},"modified":"2026-07-23T05:44:22","modified_gmt":"2026-07-22T20:44:22","slug":"thanatophoric-dysplasia-type2-guide","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/thanatophoric-dysplasia-type2-guide\/","title":{"rendered":"\u81f4\u6b7b\u6027\u9aa8\u7570\u5f62\u6210\u75c72\u578b\uff08TD2\uff09"},"content":{"rendered":"\n<div style=\"border:solid #ffe6e6 0.8rem;background-color: #fff9f9;padding:3% 5%;margin:1rem 0 3rem;\">\n<h2 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5%;margin:1rem 0 3rem;\">\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_85 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">\u76ee\u6b21<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" 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\u982d\u90e8\u3068\u9854\u8c8c\u306e\u7279\u5fb4\uff08\u30af\u30ed\u30fc\u30d0\u30fc\u8449\u982d\u84cb\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/thanatophoric-dysplasia-type2-guide\/#2_%E9%AA%A8%E6%A0%BC%E3%81%AE%E7%89%B9%E5%BE%B4%EF%BC%88%E5%9B%9B%E8%82%A2%E3%83%BB%E8%83%B8%E9%83%AD%EF%BC%89\" >2. \u9aa8\u683c\u306e\u7279\u5fb4\uff08\u56db\u80a2\u30fb\u80f8\u90ed\uff09<\/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\/thanatophoric-dysplasia-type2-guide\/#3_%E7%A5%9E%E7%B5%8C%E7%B3%BB%E3%81%AE%E7%97%87%E7%8A%B6\" >3. \u795e\u7d4c\u7cfb\u306e\u75c7\u72b6<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/thanatophoric-dysplasia-type2-guide\/#4_%E3%81%9D%E3%81%AE%E4%BB%96%E3%81%AE%E5%90%88%E4%BD%B5%E7%97%87\" >4. \u305d\u306e\u4ed6\u306e\u5408\u4f75\u75c7<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/thanatophoric-dysplasia-type2-guide\/#%E5%8E%9F%E5%9B%A0%EF%BC%9A%E3%81%AA%E3%81%9C%E8%B5%B7%E3%81%8D%E3%81%9F%E3%81%AE%E3%81%8B\" >\u539f\u56e0\uff1a\u306a\u305c\u8d77\u304d\u305f\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-12\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/thanatophoric-dysplasia-type2-guide\/#FGFR3%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AE%E5%A4%89%E7%95%B0\" >FGFR3\u907a\u4f1d\u5b50\u306e\u5909\u7570<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-13\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/thanatophoric-dysplasia-type2-guide\/#2%E5%9E%8B%E7%89%B9%E6%9C%89%E3%81%AE%E5%A4%89%E7%95%B0%EF%BC%88K650E%EF%BC%89\" >2\u578b\u7279\u6709\u306e\u5909\u7570\uff08K650E\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/thanatophoric-dysplasia-type2-guide\/#%E3%81%BB%E3%81%A8%E3%82%93%E3%81%A9%E3%81%8C%E3%80%8C%E7%AA%81%E7%84%B6%E5%A4%89%E7%95%B0%E3%80%8D\" >\u307b\u3068\u3093\u3069\u304c\u300c\u7a81\u7136\u5909\u7570\u300d<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-15\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/thanatophoric-dysplasia-type2-guide\/#%E8%A8%BA%E6%96%AD%E3%81%A8%E6%A4%9C%E6%9F%BB\" >\u8a3a\u65ad\u3068\u691c\u67fb<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/thanatophoric-dysplasia-type2-guide\/#1_%E5%87%BA%E7%94%9F%E5%89%8D%E8%A8%BA%E6%96%AD%EF%BC%88%E8%83%8E%E5%85%90%E3%82%A8%E3%82%B3%E3%83%BC%E3%83%BBMRI%E3%83%BB3D-CT%EF%BC%89\" >1. \u51fa\u751f\u524d\u8a3a\u65ad\uff08\u80ce\u5150\u30a8\u30b3\u30fc\u30fbMRI\u30fb3D-CT\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/thanatophoric-dysplasia-type2-guide\/#2_%E5%87%BA%E7%94%9F%E5%BE%8C%E3%81%AE%E7%94%BB%E5%83%8F%E6%A4%9C%E6%9F%BB%EF%BC%88%E3%83%AC%E3%83%B3%E3%83%88%E3%82%B2%E3%83%B3%E3%83%BBCT%EF%BC%89\" >2. \u51fa\u751f\u5f8c\u306e\u753b\u50cf\u691c\u67fb\uff08\u30ec\u30f3\u30c8\u30b2\u30f3\u30fbCT\uff09<\/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\/thanatophoric-dysplasia-type2-guide\/#3_%E9%81%BA%E4%BC%9D%E5%AD%A6%E7%9A%84%E6%A4%9C%E6%9F%BB\" >3. \u907a\u4f1d\u5b66\u7684\u691c\u67fb<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-19\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/thanatophoric-dysplasia-type2-guide\/#%E6%B2%BB%E7%99%82%E3%81%A8%E7%AE%A1%E7%90%86%EF%BC%9A%E3%81%93%E3%82%8C%E3%81%8B%E3%82%89%E3%81%AE%E3%83%AD%E3%83%BC%E3%83%89%E3%83%9E%E3%83%83%E3%83%97\" >\u6cbb\u7642\u3068\u7ba1\u7406\uff1a\u3053\u308c\u304b\u3089\u306e\u30ed\u30fc\u30c9\u30de\u30c3\u30d7<\/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\/thanatophoric-dysplasia-type2-guide\/#1_%E5%91%BC%E5%90%B8%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\" >1. 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/thanatophoric-dysplasia-type2-guide\/#4_%E7%B7%A9%E5%92%8C%E3%82%B1%E3%82%A2%E3%81%A8%E6%84%8F%E6%80%9D%E6%B1%BA%E5%AE%9A\" >4. \u7de9\u548c\u30b1\u30a2\u3068\u610f\u601d\u6c7a\u5b9a<\/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\/thanatophoric-dysplasia-type2-guide\/#%E4%BA%88%E5%BE%8C%E3%81%A8%E9%95%B7%E6%9C%9F%E7%94%9F%E5%AD%98%E3%81%AB%E3%81%A4%E3%81%84%E3%81%A6\" >\u4e88\u5f8c\u3068\u9577\u671f\u751f\u5b58\u306b\u3064\u3044\u3066<\/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\/thanatophoric-dysplasia-type2-guide\/#%E5%88%A9%E7%94%A8%E3%81%A7%E3%81%8D%E3%82%8B%E5%85%AC%E7%9A%84%E6%94%AF%E6%8F%B4%E5%88%B6%E5%BA%A6\" >\u5229\u7528\u3067\u304d\u308b\u516c\u7684\u652f\u63f4\u5236\u5ea6<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-26\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/thanatophoric-dysplasia-type2-guide\/#%E5%A6%8A%E5%A8%A0%E4%B8%AD%E3%81%AENIPT%E3%81%A8%E3%81%AE%E9%96%A2%E4%BF%82\" >\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-27\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/thanatophoric-dysplasia-type2-guide\/#%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\" >\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-28\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/thanatophoric-dysplasia-type2-guide\/#%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-29\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/thanatophoric-dysplasia-type2-guide\/#%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-30\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/thanatophoric-dysplasia-type2-guide\/#%E3%80%8C%E8%87%B4%E6%AD%BB%E6%80%A7%E9%AA%A8%E7%95%B0%E5%BD%A2%E6%88%90%E7%97%87%E3%80%8D%E3%81%A8%E3%80%8C%E3%82%BF%E3%83%8A%E3%83%88%E3%83%95%E3%82%A9%E3%83%AA%E3%83%83%E3%82%AF%E9%AA%A8%E7%95%B0%E5%BD%A2%E6%88%90%E7%97%87%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\u81f4\u6b7b\u6027\u9aa8\u7570\u5f62\u6210\u75c7\u300d\u3068\u300c\u30bf\u30ca\u30c8\u30d5\u30a9\u30ea\u30c3\u30af\u9aa8\u7570\u5f62\u6210\u75c7\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-31\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/thanatophoric-dysplasia-type2-guide\/#1%E5%9E%8B%E3%81%A82%E5%9E%8B%E3%81%AF%E3%81%A9%E3%81%86%E8%A6%8B%E5%88%86%E3%81%91%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >1\u578b\u30682\u578b\u306f\u3069\u3046\u898b\u5206\u3051\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-32\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/thanatophoric-dysplasia-type2-guide\/#%E6%AC%A1%E3%81%AE%E5%AD%90%E3%81%A9%E3%82%82%E3%81%AB%E3%82%82%E5%90%8C%E3%81%98%E7%97%85%E6%B0%97%E3%81%8C%E8%B5%B7%E3%81%93%E3%82%8B%E7%A2%BA%E7%8E%87%E3%81%AF%E3%81%A9%E3%81%AE%E3%81%8F%E3%82%89%E3%81%84%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\" >\u6b21\u306e\u5b50\u3069\u3082\u306b\u3082\u540c\u3058\u75c5\u6c17\u304c\u8d77\u3053\u308b\u78ba\u7387\u306f\u3069\u306e\u304f\u3089\u3044\u3067\u3059\u304b\u3002<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-33\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/thanatophoric-dysplasia-type2-guide\/#%E5%87%BA%E7%94%9F%E5%BE%8C%E3%80%81%E3%81%A9%E3%81%AE%E3%81%8F%E3%82%89%E3%81%84%E7%94%9F%E3%81%8D%E3%82%89%E3%82%8C%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >\u51fa\u751f\u5f8c\u3001\u3069\u306e\u304f\u3089\u3044\u751f\u304d\u3089\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-34\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/thanatophoric-dysplasia-type2-guide\/#%E5%88%A9%E7%94%A8%E3%81%A7%E3%81%8D%E3%82%8B%E5%8C%BB%E7%99%82%E8%B2%BB%E5%8A%A9%E6%88%90%E5%88%B6%E5%BA%A6%E3%81%AF%E3%81%82%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >\u5229\u7528\u3067\u304d\u308b\u533b\u7642\u8cbb\u52a9\u6210\u5236\u5ea6\u306f\u3042\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-35\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/thanatophoric-dysplasia-type2-guide\/#%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><\/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\u81f4\u6b7b\u6027\u9aa8\u7570\u5f62\u6210\u75c7\u300d\u304c2013\u5e74\u306b\u300c\u30bf\u30ca\u30c8\u30d5\u30a9\u30ea\u30c3\u30af\u9aa8\u7570\u5f62\u6210\u75c7\u300d\u3078\u540d\u79f0\u5909\u66f4\u3055\u308c\u305f\u7406\u7531<\/li>\n<li>1\u578b\u3068\u306e\u9055\u3044\uff08\u76f4\u72b6\u5927\u817f\u9aa8\u30fb\u30af\u30ed\u30fc\u30d0\u30fc\u8449\u982d\u84cb\uff09\u3068\u30012\u578b\u7279\u6709\u306eFGFR3\u907a\u4f1d\u5b50\u5909\u7570\uff08K650E\uff09<\/li>\n<li>\u547c\u5438\u7ba1\u7406\u30fb\u8133\u795e\u7d4c\u5916\u79d1\u624b\u8853\u3092\u4e2d\u5fc3\u3068\u3057\u305f\u6cbb\u7642\u306e\u5b9f\u969b\u3068\u3001\u8fd1\u5e74\u306e\u9577\u671f\u751f\u5b58\u4f8b\u306e\u5831\u544a<\/li>\n<li>\u6b21\u306e\u304a\u5b50\u69d8\u3078\u306e\u5f71\u97ff\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u6d3b\u7528\u3001\u5229\u7528\u3067\u304d\u308b\u533b\u7642\u8cbb\u52a9\u6210\u5236\u5ea6<\/li>\n<\/ul>\n<\/div>\n\n\n\n<p>\u304a\u5b50\u69d8\u304c\u300c\u81f4\u6b7b\u6027\u9aa8\u7570\u5f62\u6210\u75c7\uff08\u3061\u3057\u305b\u3044\u30fb\u3053\u3064\u3044\u3051\u3044\u305b\u3044\u3057\u3087\u3046\uff09\u300d\u3001\u305d\u3057\u3066\u305d\u306e\u4e2d\u3067\u3082\u300c2\u578b\uff08Type II\uff09\u300d\u3068\u3044\u3046\u8a3a\u65ad\u3092\u53d7\u3051\u305f\u3068\u304d\u3001\u3054\u5bb6\u65cf\u306f\u6df1\u3044\u60b2\u3057\u307f\u3068\u6df7\u4e71\u306e\u4e2d\u306b\u3044\u3089\u3063\u3057\u3083\u308b\u3053\u3068\u3068\u601d\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u75c5\u540d\u306b\u3064\u3051\u3089\u308c\u305f\u300c\u81f4\u6b7b\u6027\u300d\u3068\u3044\u3046\u8a00\u8449\u3001\u305d\u3057\u3066\u300c\u30af\u30ed\u30fc\u30d0\u30fc\u8449\u982d\u84cb\u300d\u3068\u3044\u3046\u805e\u304d\u6163\u308c\u306a\u3044\u7279\u5fb4\u306e\u8aac\u660e\u306b\u3001\u304a\u5b50\u69d8\u306e\u672a\u6765\u304c\u898b\u3048\u306a\u3044\u3088\u3046\u306a\u4e0d\u5b89\u3092\u611f\u3058\u3066\u3044\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u307e\u305a\u6700\u521d\u306b\u304a\u4f1d\u3048\u3057\u305f\u3044\u306e\u306f\u30011\u578b\u3068\u540c\u69d8\u306b\u3001\u3053\u306e\u300c\u81f4\u6b7b\u6027\u300d\u3068\u3044\u3046\u8a00\u8449\u306f\u904e\u53bb\u306e\u533b\u5b66\u7684\u9650\u754c\u306b\u57fa\u3065\u3044\u305f\u5206\u985e\u3060\u3068\u3044\u3046\u3053\u3068\u3067\u3059\u3002\u73fe\u4ee3\u306e\u533b\u7642\u306b\u304a\u3044\u3066\u306f\u3001\u5fc5\u305a\u3057\u3082\u300c\u3059\u3050\u306b\u4ea1\u304f\u306a\u308b\u300d\u3053\u3068\u3092\u610f\u5473\u3057\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u78ba\u304b\u306b\u3001\u547c\u5438\u3084\u8133\u306e\u7ba1\u7406\u306b\u304a\u3044\u3066\u975e\u5e38\u306b\u9ad8\u5ea6\u306a\u533b\u7642\u30b1\u30a2\u304c\u5fc5\u8981\u3068\u306a\u308b\u91cd\u7be4\u306a\u75be\u60a3\u3067\u3059\u3002\u3057\u304b\u3057\u3001\u9069\u5207\u306a\u547c\u5438\u7ba1\u7406\u3084\u8133\u795e\u7d4c\u5916\u79d1\u7684\u306a\u624b\u8853\u3092\u884c\u3046\u3053\u3068\u3067\u3001\u3054\u5bb6\u65cf\u3068\u5171\u306b\u81ea\u5b85\u3067\u751f\u6d3b\u3057\u3001\u6210\u9577\u3057\u3066\u3044\u308b\u304a\u5b50\u69d8\u305f\u3061\u3082\u3044\u307e\u3059\u3002<\/p>\n\n\n<!--nipt_mono-->\r\n<div class=\"nipt-mono\">\r\n    <div class=\"nipt-mono-btn\">\r\n        <a href=\"\/nipt\/nipt-mono\/\">\r\n            <img decoding=\"async\" loading=\"lazy\" src=\"\/nipt\/wp-content\/uploads\/2026\/03\/NIPT-MONO.webp\" alt=\"NIPT-MONO\u3067\u8abf\u3079\u3089\u308c\u307e\u3059\">\r\n         <\/a>\r\n    <\/div>\r\n<\/div>\r\n\r\n<style>\r\n.nipt-mono {\r\n    text-align: center; \/* \u89aa\u8981\u7d20\u3067\u6a2a\u4e2d\u592e *\/\r\n}\r\n.nipt-mono a img {\r\n    display: inline-block; \/* \u753b\u50cf\u3092\u30a4\u30f3\u30e9\u30a4\u30f3\u30d6\u30ed\u30c3\u30af\u5316\u3057\u3066 text-align \u306b\u53cd\u6620 *\/\r\n    width: 333px;\r\n}\r\n<\/style>\r\n<!--\/nipt_mono-->\r\n\r\n\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%A6%82%E8%A6%81%EF%BC%9A%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E7%97%85%E6%B0%97%E3%81%8B\"><\/span><strong>\u6982\u8981\uff1a\u3069\u306e\u3088\u3046\u306a\u75c5\u6c17\u304b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u81f4\u6b7b\u6027\u9aa8\u7570\u5f62\u6210\u75c7\uff08Thanatophoric Dysplasia: TD\uff09\u306f\u3001\u751f\u307e\u308c\u3064\u304d\u9aa8\u306e\u6210\u9577\u306b\u8457\u3057\u3044\u969c\u5bb3\u304c\u8d77\u3053\u308b\u300c\u9aa8\u7cfb\u7d71\u75be\u60a3\uff08\u3053\u3064\u3051\u3044\u3068\u3046\u3057\u3063\u304b\u3093\uff09\u300d\u3067\u3059\u3002<\/strong>\u8edf\u9aa8\u7121\u5f62\u6210\u75c7\u306a\u3069\u3068\u540c\u3058\u300cFGFR3\u7570\u5e38\u75c7\u300d\u3068\u3044\u3046\u30b0\u30eb\u30fc\u30d7\u306b\u5c5e\u3057\u3001\u305d\u306e\u4e2d\u3067\u6700\u3082\u75c7\u72b6\u304c\u91cd\u3044\u30bf\u30a4\u30d7\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4e3b\u306a\u7279\u5fb4\u306f\u3001\u624b\u8db3\u304c\u77ed\u3044\u3053\u3068\uff08\u77ed\u80a2\uff09\u3001\u80f8\u304c\u72ed\u3044\u3053\u3068\uff08\u80f8\u90ed\u4f4e\u5f62\u6210\uff09\u3001\u305d\u3057\u3066\u982d\u84cb\u9aa8\u306e\u7e2b\u5408\u4e0d\u5168\u306b\u3088\u308b\u7279\u5fb4\u7684\u306a\u982d\u306e\u5f62\u3067\u3059\u3002\u808b\u9aa8\u304c\u77ed\u3044\u305f\u3081\u306b\u80f8\u304c\u5e83\u304c\u3089\u305a\u3001\u80ba\u304c\u5341\u5206\u306b\u81a8\u3089\u307e\u306a\u3044\u3053\u3068\u3067\u300c\u547c\u5438\u4e0d\u5168\u300d\u3092\u8d77\u3053\u3057\u3084\u3059\u3044\u70b9\u304c\u3001\u751f\u547d\u4e88\u5f8c\u306b\u5927\u304d\u304f\u95a2\u308f\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%AD%A3%E5%BC%8F%E5%90%8D%E7%A7%B0%E3%81%AE%E5%A4%89%E6%9B%B4%E3%81%AB%E3%81%A4%E3%81%84%E3%81%A6%EF%BC%882013%E5%B9%B4%EF%BC%89\"><\/span><strong>\u6b63\u5f0f\u540d\u79f0\u306e\u5909\u66f4\u306b\u3064\u3044\u3066\uff082013\u5e74\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306f\u3001\u56fd\u5185\u306e\u6307\u5b9a\u96e3\u75c5\u30ea\u30b9\u30c8\u3067\u306f\u300c\u30bf\u30ca\u30c8\u30d5\u30a9\u30ea\u30c3\u30af\u9aa8\u7570\u5f62\u6210\u75c7\uff08\u6307\u5b9a\u96e3\u75c5275\uff09\u300d\u3068\u3044\u3046\u540d\u79f0\u3067\u767b\u9332\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3082\u3068\u3082\u3068\u306f\u300c\u81f4\u6b7b\u6027\u9aa8\u7570\u5f62\u6210\u75c7\u300d\u3068\u547c\u3070\u308c\u3066\u3044\u307e\u3057\u305f\u304c\u30012013\u5e74\u306b\u540d\u79f0\u304c\u898b\u76f4\u3055\u308c\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<p>\u547c\u5438\u7ba1\u7406\u3092\u9069\u5207\u306b\u884c\u3048\u3070\u5fc5\u305a\u3057\u3082\u81f4\u6b7b\u7684\u3068\u306f\u9650\u3089\u306a\u3044\u3053\u3068\u304c\u3001\u5909\u66f4\u306e\u7406\u7531\u3067\u3059\u3002\u96e3\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc\u306e\u89e3\u8aac\u3067\u3082\u3001\u3053\u306e\u7d4c\u7def\u304c\u660e\u8a18\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u533b\u7642\u6a5f\u95a2\u3084\u6587\u732e\u306b\u3088\u3063\u3066\u306f\u3001\u4eca\u3082\u300c\u81f4\u6b7b\u6027\u9aa8\u7570\u5f62\u6210\u75c7\u300d\u3068\u3044\u3046\u547c\u3073\u65b9\u304c\u5e83\u304f\u4f7f\u308f\u308c\u3066\u3044\u307e\u3059\u3002\u672c\u8a18\u4e8b\u3067\u3082\u3001\u4e21\u65b9\u306e\u540d\u79f0\u3092\u4f75\u8a18\u3057\u306a\u304c\u3089\u89e3\u8aac\u3092\u9032\u3081\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2%E5%9E%8B%EF%BC%88Type_II%EF%BC%89%E3%81%AE%E7%89%B9%E5%BE%B4\"><\/span><strong>2\u578b\uff08Type II\uff09\u306e\u7279\u5fb4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u81f4\u6b7b\u6027\u9aa8\u7570\u5f62\u6210\u75c7\u306b\u306f1\u578b\u30682\u578b\u304c\u3042\u308a\u30012\u578b\u306f1\u578b\u306b\u6bd4\u3079\u3066\u983b\u5ea6\u306f\u5c11\u306a\u3044\u3082\u306e\u306e\u3001\u5916\u898b\u4e0a\u306e\u7279\u5fb4\u304c\u306f\u3063\u304d\u308a\u3057\u3066\u3044\u307e\u3059\u30021\u578b\u30fb2\u578b\u306e\u9055\u3044\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/thanatophoric-dysplasia-type1-guide\/\">\u81f4\u6b7b\u6027\u9aa8\u7570\u5f62\u6210\u75c71\u578b\u306e\u89e3\u8aac\u8a18\u4e8b<\/a>\u3068\u3042\u308f\u305b\u3066\u78ba\u8a8d\u3059\u308b\u3068\u7406\u89e3\u3057\u3084\u3059\u304f\u306a\u308a\u307e\u3059\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>1\u578b\uff08Type I\uff09<\/th><th>2\u578b\uff08Type II\uff09<\/th><\/tr><\/thead><tbody><tr><td>\u5927\u817f\u9aa8\u306e\u5f62<\/td><td>\u53d7\u8a71\u5668\u306e\u3088\u3046\u306b\u6e7e\u66f2<\/td><td>\u307e\u3063\u3059\u3050\uff08\u76f4\u72b6\u5927\u817f\u9aa8\uff09<\/td><\/tr><tr><td>\u30af\u30ed\u30fc\u30d0\u30fc\u8449\u982d\u84cb<\/td><td>\u307e\u308c\u3001\u307e\u305f\u306f\u8efd\u5ea6<\/td><td>\u4e2d\u7b49\u5ea6\u301c\u9ad8\u5ea6\u3067\u9ad8\u983b\u5ea6\u306b\u51fa\u73fe<\/td><\/tr><tr><td>\u539f\u56e0\u3068\u306a\u308b\u5909\u7570<\/td><td>\u8907\u6570\u306e\u5909\u7570\u70b9\uff08R248C\u304c\u6700\u591a\uff09<\/td><td>\u307b\u307c\u5168\u4f8b\u304cK650E\uff08Lys650Glu\uff09<\/td><\/tr><tr><td>\u5168\u4f53\u306b\u5360\u3081\u308b\u5272\u5408<\/td><td>\u7d048\u5272<\/td><td>\u7d042\u5272<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<p><strong>\u76f4\u72b6\u5927\u817f\u9aa8\uff08\u3061\u3087\u304f\u3058\u3087\u3046\u30fb\u3060\u3044\u305f\u3044\u3053\u3064\uff09<\/strong>\u3068<strong>\u30af\u30ed\u30fc\u30d0\u30fc\u8449\u982d\u84cb\uff08\u3088\u3046\u3068\u3046\u304c\u3044\uff09<\/strong>\u304c\u30012\u578b\u3092\u7279\u5fb4\u3065\u3051\u308b\u4e8c\u5927\u6240\u898b\u3067\u3059\u3002\u982d\u84cb\u9aa8\u306e\u7d99\u304e\u76ee\uff08\u7e2b\u5408\uff09\u304c\u975e\u5e38\u306b\u65e9\u3044\u6bb5\u968e\u3067\u304f\u3063\u3064\u3044\u3066\u3057\u307e\u3046\uff08\u65e9\u671f\u7652\u5408\uff09\u305f\u3081\u3001\u8133\u304c\u6210\u9577\u3059\u308b\u306b\u3064\u308c\u3066\u982d\u306e\u5f62\u304c\u4e09\u3064\u8449\u306e\u30af\u30ed\u30fc\u30d0\u30fc\u306e\u3088\u3046\u306b\u76db\u308a\u4e0a\u304c\u3063\u305f\u5f62\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u30af\u30ed\u30fc\u30d0\u30fc\u8449\u982d\u84cb\u304c\u3042\u308b\u3068\u3001\u8133\u3078\u306e\u5727\u8feb\u3084\u6c34\u982d\u75c7\u306e\u30ea\u30b9\u30af\u304c1\u578b\u3088\u308a\u3082\u9ad8\u304f\u306a\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002\u982d\u84cb\u9aa8\u306e\u5f62\u306e\u5909\u5316\u304c\u8133\u810a\u9ac4\u6db2\u306e\u6d41\u308c\u306b\u5f71\u97ff\u3092\u53ca\u307c\u3059\u305f\u3081\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%A0%BB%E5%BA%A6%E3%81%AB%E3%81%A4%E3%81%84%E3%81%A6\"><\/span><strong>\u983b\u5ea6\u306b\u3064\u3044\u3066<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u975e\u5e38\u306b\u5e0c\u5c11\u306a\u75be\u60a3\u3067\u3059\u3002\u96e3\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc\u306b\u3088\u308b\u3068\u3001\u6307\u5b9a\u96e3\u75c5\u306e\u533b\u7642\u53d7\u7d66\u8005\u8a3c\u3092\u3082\u3068\u306b\u3057\u305f\u63a8\u8a08\u3067\u3001\u56fd\u5185\u306e\u60a3\u8005\u6570\u306f1\u578b\u30fb2\u578b\u3092\u5408\u308f\u305b\u3066\u7d04100\u4eba\u7a0b\u5ea6\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u51fa\u751f\u6570\u3067\u307f\u308b\u3068\u30012\u301c5\u4e07\u5206\u5a29\u306b1\u4eba\u7a0b\u5ea6\u3068\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001\u6587\u732e\u306b\u3088\u3063\u3066\u306f2\u301c9\u4e07\u4eba\u306b1\u4eba\u3068\u3044\u3046\u5e45\u3067\u7d39\u4ecb\u3055\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u81f4\u6b7b\u6027\u9aa8\u7570\u5f62\u6210\u75c7\u5168\u4f53\u306e\u3046\u3061\u30012\u578b\u306f\u5c11\u6570\u6d3e\u3067\u3059\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/testing\/#anchor_sex\">\u6027\u5225<\/a>\u306b\u3088\u308b\u5dee\u306f\u306a\u304f\u3001\u7537\u306e\u5b50\u306b\u3082\u5973\u306e\u5b50\u306b\u3082\u898b\u3089\u308c\u307e\u3059\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\"><\/span><strong>\u4e3b\u306a\u75c7\u72b6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u81f4\u6b7b\u6027\u9aa8\u7570\u5f62\u6210\u75c72\u578b\u306e\u75c7\u72b6\u306f\u3001\u9aa8\u683c\u3001\u547c\u5438\u5668\u3001\u305d\u3057\u3066\u7279\u306b\u4e2d\u67a2\u795e\u7d4c\u7cfb\uff08\u8133\uff09\u306b\u5f37\u304f\u73fe\u308c\u307e\u3059\u3002<\/strong>\u305d\u308c\u305e\u308c\u306e\u9818\u57df\u3067\u3001\u3069\u306e\u3088\u3046\u306a\u6240\u898b\u304c\u898b\u3089\u308c\u308b\u306e\u304b\u3092\u9806\u756a\u306b\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=\"1_%E9%A0%AD%E9%83%A8%E3%81%A8%E9%A1%94%E8%B2%8C%E3%81%AE%E7%89%B9%E5%BE%B4%EF%BC%88%E3%82%AF%E3%83%AD%E3%83%BC%E3%83%90%E3%83%BC%E8%91%89%E9%A0%AD%E8%93%8B%EF%BC%89\"><\/span><strong>1. \u982d\u90e8\u3068\u9854\u8c8c\u306e\u7279\u5fb4\uff08\u30af\u30ed\u30fc\u30d0\u30fc\u8449\u982d\u84cb\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>2\u578b\u3067\u6700\u3082\u9855\u8457\u306a\u75c7\u72b6\u3067\u3059\u3002\u982d\u84cb\u9aa8\u306b\u306f\u3044\u304f\u3064\u304b\u306e\u9aa8\u306e\u7d99\u304e\u76ee\uff08\u7e2b\u5408\uff09\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u305d\u308c\u3089\u304c\u4e00\u5ea6\u306b\u7652\u5408\u3057\u3066\u3057\u307e\u3046\u3053\u3068\u3067\u8d77\u3053\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30af\u30ed\u30fc\u30d0\u30fc\u8449\u982d\u84cb\uff08Kleeblattsch\u00e4del\uff09:<\/strong> \u304a\u3067\u3053\u3068\u4e21\u5074\u306e\u3053\u3081\u304b\u307f\u90e8\u5206\u304c\u81a8\u3089\u307f\u3001\u6b63\u9762\u304b\u3089\u898b\u308b\u3068\u4e09\u3064\u8449\u306e\u30af\u30ed\u30fc\u30d0\u30fc\u306e\u3088\u3046\u306a\u5f62\u306b\u898b\u3048\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u773c\u7403\u7a81\u51fa: \u982d\u306e\u5f62\u72b6\u306e\u305f\u3081\u3001\u773c\u7403\u304c\u524d\u306b\u62bc\u3057\u51fa\u3055\u308c\u308b\u69d8\u5b50\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u7279\u5fb4\u7684\u306a\u9854\u8c8c: \u304a\u3067\u3053\u304c\u524d\u306b\u51fa\u3066\u304a\u308a\u3001\u9f3b\u306e\u4ed8\u3051\u6839\u304c\u4f4e\u3044\uff08\u9f3b\u6839\u90e8\u9665\u51f9\uff09\u306e\u304c\u7279\u5fb4\u3067\u3059\u3002\u9854\u306e\u4e2d\u592e\u90e8\u5206\u306e\u767a\u9054\u304c\u672a\u719f\u306a\u305f\u3081\u3001\u5e73\u5766\u306a\u9854\u3064\u304d\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u79c1\u81ea\u8eab\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u5834\u9762\u3067\u3001\u8d85\u97f3\u6ce2\u691c\u67fb\u306e\u753b\u50cf\u3060\u3051\u3092\u898b\u3066\u5f37\u3044\u4e0d\u5b89\u3092\u62b1\u3048\u305f\u307e\u307e\u3044\u3089\u3063\u3057\u3083\u308b\u3054\u5bb6\u65cf\u3068\u51fa\u4f1a\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u6587\u5b57\u3084\u753b\u50cf\u3060\u3051\u3067\u306f\u4f1d\u308f\u308a\u306b\u304f\u3044\u90e8\u5206\u3082\u591a\u3044\u305f\u3081\u3001\u7591\u554f\u306f\u305d\u306e\u90fd\u5ea6\u3001\u62c5\u5f53\u306e\u533b\u5e2b\u306b\u7387\u76f4\u306b\u5c0b\u306d\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E9%AA%A8%E6%A0%BC%E3%81%AE%E7%89%B9%E5%BE%B4%EF%BC%88%E5%9B%9B%E8%82%A2%E3%83%BB%E8%83%B8%E9%83%AD%EF%BC%89\"><\/span><strong>2. \u9aa8\u683c\u306e\u7279\u5fb4\uff08\u56db\u80a2\u30fb\u80f8\u90ed\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u56db\u80a2\u3068\u80f8\u90ed\u306b\u3082\u3001\u3053\u306e\u75c5\u6c17\u306a\u3089\u3067\u306f\u306e\u6240\u898b\u304c\u73fe\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u8457\u3057\u3044\u56db\u80a2\u77ed\u7e2e: \u8155\u3084\u8db3\u304c\u4f53\u306e\u4e2d\u5fc3\u306b\u8fd1\u3044\u90e8\u5206\u304b\u3089\u975e\u5e38\u306b\u77ed\u304f\u306a\u3063\u3066\u3044\u307e\u3059\u3002\u76ae\u819a\u304c\u4f59\u3063\u3066\u3057\u307e\u3044\u3001\u624b\u8db3\u306b\u6df1\u3044\u3057\u308f\uff08\u76ae\u819a\u306e\u3072\u3060\uff09\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u76f4\u72b6\u5927\u817f\u9aa8:<\/strong> \u30ec\u30f3\u30c8\u30b2\u30f3\u3067\u592a\u3082\u3082\u306e\u9aa8\u304c\u77ed\u304f\u592a\u3044\u3082\u306e\u306e\u3001\u66f2\u304c\u3089\u305a\u306b\u307e\u3063\u3059\u3050\u3067\u3042\u308b\u3053\u3068\u304c\u78ba\u8a8d\u3067\u304d\u307e\u3059\u30022\u578b\u3092\u8a3a\u65ad\u3059\u308b\u6c7a\u5b9a\u7684\u306a\u6240\u898b\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u72ed\u3044\u80f8\u90ed: \u808b\u9aa8\u304c\u975e\u5e38\u306b\u77ed\u3044\u305f\u3081\u80f8\u56f2\u304c\u5c0f\u3055\u304f\u3001\u304a\u8179\u304c\u307d\u3063\u3053\u308a\u3068\u51fa\u305f\u4f53\u578b\u306b\u306a\u308a\u307e\u3059\u3002\u80f8\u304c\u72ed\u3044\u3053\u3068\u3067\u80ba\u304c\u5727\u8feb\u3055\u308c\u3001\u5341\u5206\u306b\u6210\u9577\u3067\u304d\u307e\u305b\u3093\uff08\u80ba\u4f4e\u5f62\u6210\uff09\u3002\u3053\u308c\u304c\u547c\u5438\u969c\u5bb3\u306e\u4e3b\u306a\u539f\u56e0\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E7%A5%9E%E7%B5%8C%E7%B3%BB%E3%81%AE%E7%97%87%E7%8A%B6\"><\/span><strong>3. \u795e\u7d4c\u7cfb\u306e\u75c7\u72b6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>2\u578b\u3067\u306f\u3001\u982d\u84cb\u9aa8\u306e\u5f62\u306e\u554f\u984c\u306b\u3088\u308a\u3001\u8133\u3078\u306e\u5f71\u97ff\u304c\u3088\u308a\u5f37\u304f\u51fa\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u6c34\u982d\u75c7: \u8133\u306e\u4e2d\u306e\u6c34\u5206\uff08\u9ac4\u6db2\uff09\u304c\u6e9c\u307e\u308a\u3059\u304e\u3066\u3057\u307e\u3046\u72b6\u614b\u3067\u3059\u3002\u30af\u30ed\u30fc\u30d0\u30fc\u8449\u982d\u84cb\u306b\u4f34\u3063\u3066\u767a\u75c7\u3059\u308b\u30ea\u30b9\u30af\u304c\u9ad8\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u5927\u5f8c\u982d\u5b54\u72ed\u7a84\uff08\u3060\u3044\u3053\u3046\u3068\u3046\u3053\u3046\u304d\u3087\u3046\u3055\u304f\uff09: \u982d\u3068\u9996\u306e\u3064\u306a\u304e\u76ee\u306b\u3042\u308b\u3001\u810a\u9ac4\u304c\u901a\u308b\u7a74\uff08\u5927\u5f8c\u982d\u5b54\uff09\u304c\u72ed\u304f\u306a\u308b\u6240\u898b\u3067\u3059\u3002\u3053\u3053\u306b\u306f\u547c\u5438\u3092\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3059\u308b\u300c\u5ef6\u9ac4\u300d\u3068\u3044\u3046\u91cd\u8981\u306a\u795e\u7d4c\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u3053\u304c\u5727\u8feb\u3055\u308c\u308b\u3068\u3001\u4e2d\u67a2\u6027\u306e\u547c\u5438\u4e0d\u5168\u3084\u624b\u8db3\u306e\u9ebb\u75fa\u304c\u8d77\u3053\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u30ad\u30a2\u30ea\u5947\u5f62: \u5c0f\u8133\u306e\u4e00\u90e8\u304c\u810a\u9ac4\u306e\u65b9\u3078\u843d\u3061\u8fbc\u3093\u3067\u3057\u307e\u3046\u72b6\u614b\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p>GeneReviews\uff08\u7c73\u56fd\u56fd\u7acb\u533b\u5b66\u56f3\u66f8\u9928\uff09\u306e\u5831\u544a\u3067\u306f\u3001\u5927\u5f8c\u982d\u5b54\u306e\u72ed\u7a84\u306fTD\u5168\u4f53\u3067\u307b\u307c\u5168\u4f8b\u306b\u3001\u6c34\u982d\u75c7\u306f\u7d04\u534a\u6570\u306b\u8a8d\u3081\u3089\u308c\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u30af\u30ed\u30fc\u30d0\u30fc\u8449\u982d\u84cb\u3092\u4f34\u30462\u578b\u3067\u306f\u3001\u3053\u306e\u7279\u5fb4\u304b\u3089\u3082\u3068\u308a\u308f\u3051\u8133\u795e\u7d4c\u5916\u79d1\u7684\u306a\u8a55\u4fa1\u304c\u91cd\u8981\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E3%81%9D%E3%81%AE%E4%BB%96%E3%81%AE%E5%90%88%E4%BD%B5%E7%97%87\"><\/span><strong>4. \u305d\u306e\u4ed6\u306e\u5408\u4f75\u75c7<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u9aa8\u683c\u30fb\u547c\u5438\u5668\u30fb\u795e\u7d4c\u7cfb\u4ee5\u5916\u306b\u3082\u3001\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u6240\u898b\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u7b4b\u7dca\u5f35\u4f4e\u4e0b<\/strong>\u3067\u306f\u3001\u5168\u8eab\u306e\u7b4b\u8089\u306e\u5f35\u308a\u304c\u5f31\u304f\u3001\u4f53\u304c\u67d4\u3089\u304b\u3044\u72b6\u614b\u306b\u306a\u308a\u307e\u3059\u3002<strong>\u767a\u9054\u306e\u9045\u308c<\/strong>\u306f\u3001\u547c\u5438\u969c\u5bb3\u3084\u8133\u306e\u5408\u4f75\u75c7\u306e\u5f71\u97ff\u306b\u3088\u308a\u3001\u904b\u52d5\u3084\u77e5\u80fd\u306e\u767a\u9054\u306b\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\u3059\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%8E%9F%E5%9B%A0%EF%BC%9A%E3%81%AA%E3%81%9C%E8%B5%B7%E3%81%8D%E3%81%9F%E3%81%AE%E3%81%8B\"><\/span><strong>\u539f\u56e0\uff1a\u306a\u305c\u8d77\u304d\u305f\u306e\u304b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u81f4\u6b7b\u6027\u9aa8\u7570\u5f62\u6210\u75c72\u578b\u306e\u539f\u56e0\u306f\u3001\u3054\u4e21\u89aa\u306e\u80b2\u3066\u65b9\u3084\u598a\u5a20\u4e2d\u306e\u904e\u3054\u3057\u65b9\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/strong>\u3054\u5bb6\u65cf\u304c\u300c\u306a\u305c\uff1f\u300d\u3068\u60a9\u307f\u3001\u6642\u306b\u3054\u81ea\u8eab\u3092\u8cac\u3081\u3066\u3057\u307e\u3046\u306e\u304c\u300c\u539f\u56e0\u300d\u306b\u3064\u3044\u3066\u3067\u3059\u3002\u58f0\u3092\u5927\u306b\u3057\u3066\u304a\u4f1d\u3048\u3057\u305f\u3044\u306e\u306f\u3001\u3053\u306e\u4e8b\u5b9f\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"FGFR3%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AE%E5%A4%89%E7%95%B0\"><\/span><strong>FGFR3\u907a\u4f1d\u5b50\u306e\u5909\u7570<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u81f4\u6b7b\u6027\u9aa8\u7570\u5f62\u6210\u75c72\u578b\u306e\u539f\u56e0\u306f\u30014\u756a\u67d3\u8272\u4f53\u306b\u3042\u308b\u300cFGFR3\uff08\u30a8\u30d5\u30fb\u30b8\u30fc\u30fb\u30a8\u30d5\u30fb\u30a2\u30fc\u30eb\u30fb\u30b9\u30ea\u30fc\uff09\u300d\u3068\u3044\u3046\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3067\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306f\u3001\u9aa8\u306e\u6210\u9577\u306b\u30d6\u30ec\u30fc\u30ad\u3092\u304b\u3051\u308b\u5f79\u5272\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/hypochondroplasia-guide\/\">\u540c\u3058FGFR3\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3067\u8d77\u3053\u308b\u8edf\u9aa8\u4f4e\u5f62\u6210\u75c7<\/a>\u306e\u3088\u3046\u306b\u3001\u5909\u7570\u306e\u5834\u6240\u306b\u3088\u3063\u3066\u75c7\u72b6\u306e\u91cd\u3055\u304c\u5927\u304d\u304f\u5909\u308f\u308b\u306e\u304c\u3053\u306e\u907a\u4f1d\u5b50\u306e\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2%E5%9E%8B%E7%89%B9%E6%9C%89%E3%81%AE%E5%A4%89%E7%95%B0%EF%BC%88K650E%EF%BC%89\"><\/span><strong>2\u578b\u7279\u6709\u306e\u5909\u7570\uff08K650E\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>2\u578b\u306e\u60a3\u8005\u3055\u3093\u306e\u307b\u307c\u5168\u54e1\u306b\u3001FGFR3\u907a\u4f1d\u5b50\u306e\u4e2d\u306e\u5168\u304f\u540c\u3058\u5834\u6240\u306e\u5909\u7570\uff08p.Lys650Glu \/ K650E\uff09\u304c\u898b\u3064\u304b\u308a\u307e\u3059\u3002\u5c0f\u5150\u6162\u6027\u7279\u5b9a\u75be\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc\u306e\u5831\u544a\u3067\u3082\u3001\u56fd\u5185\u306e2\u578b\u75c7\u4f8b\u306f\u5168\u4f8b\u3067\u3053\u306e\u5909\u7570\u304c\u78ba\u8a8d\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u7279\u5b9a\u306e\u5909\u7570\u304c\u8d77\u304d\u308b\u3068\u3001FGFR3\u3068\u3044\u3046\u30d6\u30ec\u30fc\u30ad\u304c\u5f37\u529b\u306b\u304b\u304b\u308a\u3063\u3071\u306a\u3057\u306b\u306a\u308a\u3001\u9aa8\u304c\u4f38\u3073\u306a\u304f\u306a\u308a\u307e\u3059\u3002\u307e\u305f\u3001\u982d\u84cb\u9aa8\u306e\u7e2b\u5408\u3092\u65e9\u671f\u306b\u9589\u3058\u3066\u3057\u307e\u3046\u4f5c\u7528\u304c\u5f37\u3044\u305f\u3081\u30012\u578b\u7279\u6709\u306e\u30af\u30ed\u30fc\u30d0\u30fc\u8449\u982d\u84cb\u3092\u5f15\u304d\u8d77\u3053\u3059\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u306a\u304a\u3001FGFR3\u907a\u4f1d\u5b50\u306eK650\u756a\u76ee\u306e\u30a2\u30df\u30ce\u9178\u306b\u5225\u306e\u5909\u5316\uff08Lys650Met\uff09\u304c\u8d77\u3053\u308b\u3068\u3001SADDAN\u75c7\u5019\u7fa4\u3068\u3044\u3046\u5225\u306e\u75be\u60a3\u306b\u306a\u308a\u307e\u3059\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/saddan-syndrome-guide\/\">SADDAN\u75c7\u5019\u7fa4\u306e\u89e3\u8aac\u8a18\u4e8b<\/a>\u3082\u3042\u308f\u305b\u3066\u3054\u89a7\u304f\u3060\u3055\u3044\u3002\u540c\u3058\u5834\u6240\u306e\u5909\u7570\u3067\u3082\u3001\u5909\u5316\u306e\u7a2e\u985e\u306b\u3088\u3063\u3066\u75c5\u6c17\u306e\u91cd\u3055\u304c\u5909\u308f\u308b\u4f8b\u3068\u3044\u3048\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%BB%E3%81%A8%E3%82%93%E3%81%A9%E3%81%8C%E3%80%8C%E7%AA%81%E7%84%B6%E5%A4%89%E7%95%B0%E3%80%8D\"><\/span><strong>\u307b\u3068\u3093\u3069\u304c\u300c\u7a81\u7136\u5909\u7570\u300d<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306f\u907a\u4f1d\u5b50\u306e\u5909\u5316\u306b\u3088\u3063\u3066\u8d77\u304d\u307e\u3059\u304c\u3001\u89aa\u304b\u3089\u907a\u4f1d\u3057\u305f\u3082\u306e\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u60a3\u8005\u3055\u3093\u306e\u307b\u307c100%\u304c\u3001\u300cde novo\uff08\u30c7\u30fb\u30ce\u30dc\uff09\u300d\u3068\u547c\u3070\u308c\u308b\u65b0\u898f\u306e\u5909\u7570\u3067\u767a\u75c7\u3057\u307e\u3059\u3002\u7cbe\u5b50\u3084\u5375\u5b50\u304c\u4f5c\u3089\u308c\u308b\u904e\u7a0b\u3067\u3001\u5076\u7136FGFR3\u907a\u4f1d\u5b50\u306e\u3053\u306e\u5834\u6240\u306b\u5909\u5316\u304c\u751f\u3058\u305f\u3082\u306e\u3067\u3059\u3002<\/p>\n\n\n\n<p>GeneReviews\u3067\u306f\u3001\u3053\u306e\u7a2e\u306ede novo\u5909\u7570\u306f\u7236\u89aa\u306e\u5e74\u9f62\u304c\u9ad8\u3044\u307b\u3069\u751f\u3058\u3084\u3059\u3044\u50be\u5411\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u305f\u3060\u3057\u3001\u3053\u308c\u306f\u7d71\u8a08\u7684\u306a\u50be\u5411\u3067\u3042\u308a\u3001\u7279\u5b9a\u306e\u500b\u4eba\u306e\u598a\u5a20\u3067\u539f\u56e0\u3092\u7279\u5b9a\u3067\u304d\u308b\u3082\u306e\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u6b21\u306e\u304a\u5b50\u69d8\u304c\u540c\u3058\u75c5\u6c17\u306b\u306a\u308b\u78ba\u7387\u306f\u3001\u975e\u5e38\u306b\u4f4e\u3044\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u305f\u3060\u3057\u3001\u3054\u304f\u307e\u308c\u306b\u3001\u3054\u4e21\u89aa\u306e\u751f\u6b96\u7d30\u80de\uff08\u7cbe\u5b50\u30fb\u5375\u5b50\u306e\u3082\u3068\u306b\u306a\u308b\u7d30\u80de\uff09\u306e\u4e00\u90e8\u306b\u306e\u307f\u5909\u7570\u304c\u751f\u3058\u3066\u3044\u308b\u300c\u751f\u6b96\u7d30\u80de<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mosaicism\/\">\u30e2\u30b6\u30a4\u30af<\/a>\u300d\u306e\u53ef\u80fd\u6027\u304c\u7406\u8ad6\u4e0a\u6b8b\u308b\u305f\u3081\u3001\u4e00\u822c\u96c6\u56e3\u3088\u308a\u308f\u305a\u304b\u306b\u78ba\u7387\u304c\u9ad8\u3044\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u6b63\u78ba\u306a\u78ba\u7387\u306f\u500b\u3005\u306e\u72b6\u6cc1\u3067\u7570\u306a\u308b\u305f\u3081\u3001\u6b21\u306e\u598a\u5a20\u3092\u8003\u3048\u308b\u969b\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-counseling\/\">\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/a>\u3067\u78ba\u8a8d\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n<!--nipt_mono-->\r\n<div class=\"nipt-mono\">\r\n    <div class=\"nipt-mono-btn\">\r\n        <a href=\"\/nipt\/nipt-mono\/\">\r\n            <img decoding=\"async\" loading=\"lazy\" src=\"\/nipt\/wp-content\/uploads\/2026\/03\/NIPT-MONO.webp\" alt=\"NIPT-MONO\u3067\u8abf\u3079\u3089\u308c\u307e\u3059\">\r\n         <\/a>\r\n    <\/div>\r\n<\/div>\r\n\r\n<style>\r\n.nipt-mono {\r\n    text-align: center; \/* \u89aa\u8981\u7d20\u3067\u6a2a\u4e2d\u592e *\/\r\n}\r\n.nipt-mono a img {\r\n    display: inline-block; \/* \u753b\u50cf\u3092\u30a4\u30f3\u30e9\u30a4\u30f3\u30d6\u30ed\u30c3\u30af\u5316\u3057\u3066 text-align \u306b\u53cd\u6620 *\/\r\n    width: 333px;\r\n}\r\n<\/style>\r\n<!--\/nipt_mono-->\r\n\r\n\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\/24154848_s.webp\" alt=\"\u533b\u8005\" class=\"wp-image-121739\"\/><\/figure><\/div>\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\"><\/span><strong>\u8a3a\u65ad\u3068\u691c\u67fb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u8a3a\u65ad\u306f\u3001\u7279\u5fb4\u7684\u306a\u982d\u306e\u5f62\u3068\u30ec\u30f3\u30c8\u30b2\u30f3\u6240\u898b\u3067\u307b\u307c\u78ba\u5b9a\u3057\u307e\u3059\u304c\u3001\u907a\u4f1d\u5b50\u691c\u67fb\u3067\u6700\u7d42\u78ba\u8a8d\u3092\u884c\u3044\u307e\u3059\u3002<\/strong>\u51fa\u751f\u524d\u3068\u51fa\u751f\u5f8c\u3067\u3001\u78ba\u8a8d\u3059\u308b\u65b9\u6cd5\u304c\u7570\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E5%87%BA%E7%94%9F%E5%89%8D%E8%A8%BA%E6%96%AD%EF%BC%88%E8%83%8E%E5%85%90%E3%82%A8%E3%82%B3%E3%83%BC%E3%83%BBMRI%E3%83%BB3D-CT%EF%BC%89\"><\/span><strong>1. \u51fa\u751f\u524d\u8a3a\u65ad\uff08\u80ce\u5150\u30a8\u30b3\u30fc\u30fbMRI\u30fb3D-CT\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u598a\u5a20\u4e2d\u306e\u8d85\u97f3\u6ce2\u691c\u67fb\uff08\u30a8\u30b3\u30fc\uff09\u3067\u3001\u4ee5\u4e0b\u306e\u7279\u5fb4\u304c\u898b\u3089\u308c\u305f\u5834\u5408\u306b\u7591\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u30af\u30ed\u30fc\u30d0\u30fc\u8449\u72b6\u306e\u982d\u306e\u5f62\uff08\u598a\u5a20\u4e2d\u671f\u4ee5\u964d\u306b\u660e\u77ad\u306b\u306a\u308b\u3053\u3068\u304c\u591a\u3044\uff09<\/li>\n\n\n\n<li>\u624b\u8db3\u304c\u6975\u7aef\u306b\u77ed\u3044<\/li>\n\n\n\n<li>\u80f8\u304c\u72ed\u3044<\/li>\n\n\n\n<li>\u7f8a\u6c34\u904e\u591a<\/li>\n<\/ul>\n\n\n\n<p>2\u578b\u306f\u982d\u306e\u5f62\u304c\u7279\u5fb4\u7684\u3067\u3042\u308b\u305f\u3081\u30011\u578b\u3088\u308a\u3082\u51fa\u751f\u524d\u306b\u30af\u30ed\u30fc\u30d0\u30fc\u8449\u982d\u84cb\u3068\u3057\u3066\u6307\u6458\u3055\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002\u598a\u5a20\u4e2d\u306e\u30a8\u30b3\u30fc\u3067\u7591\u308f\u308c\u305f\u5834\u5408\u3001\u78ba\u5b9a\u306b\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniotic-fluid-test-about\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u306a\u3069\u306b\u3088\u308b\u907a\u4f1d\u5b66\u7684\u306a\u78ba\u8a8d\u304c\u5fc5\u8981\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E5%87%BA%E7%94%9F%E5%BE%8C%E3%81%AE%E7%94%BB%E5%83%8F%E6%A4%9C%E6%9F%BB%EF%BC%88%E3%83%AC%E3%83%B3%E3%83%88%E3%82%B2%E3%83%B3%E3%83%BBCT%EF%BC%89\"><\/span><strong>2. \u51fa\u751f\u5f8c\u306e\u753b\u50cf\u691c\u67fb\uff08\u30ec\u30f3\u30c8\u30b2\u30f3\u30fbCT\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u751f\u307e\u308c\u305f\u5f8c\u3001\u5168\u8eab\u306e\u30ec\u30f3\u30c8\u30b2\u30f3\u3068\u982d\u90e8\u306eCT\u3092\u64ae\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u76f4\u72b6\u5927\u817f\u9aa8\uff08\u592a\u3082\u3082\u306e\u9aa8\u304c\u307e\u3063\u3059\u3050\uff09:<\/strong> \u3053\u308c\u304c2\u578b\u8a3a\u65ad\u306e\u6c7a\u3081\u624b\u3002<\/li>\n\n\n\n<li>\u30af\u30ed\u30fc\u30d0\u30fc\u8449\u982d\u84cb: \u982d\u84cb\u7e2b\u5408\u65e9\u671f\u7652\u5408\u306e\u72b6\u614b\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6241\u5e73\u690e: \u80cc\u9aa8\u304c\u8584\u304f\u306a\u3063\u3066\u3044\u308b\u6240\u898b\u3002<\/li>\n\n\n\n<li>\u808b\u9aa8\u306e\u77ed\u7e2e: \u80f8\u90ed\u4f4e\u5f62\u6210\u306e\u88cf\u4ed8\u3051\u3068\u306a\u308b\u6240\u898b\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E9%81%BA%E4%BC%9D%E5%AD%A6%E7%9A%84%E6%A4%9C%E6%9F%BB\"><\/span><strong>3. \u907a\u4f1d\u5b66\u7684\u691c\u67fb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8840\u6db2\u691c\u67fb\u3067DNA\u3092\u8abf\u3079\u3001FGFR3\u907a\u4f1d\u5b50\u306e\u300cLys650Glu\uff08K650E\uff09\u300d\u3068\u3044\u3046\u7279\u5b9a\u306e\u5909\u7570\u304c\u3042\u308b\u304b\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002\u81e8\u5e8a\u6240\u898b\u3068\u907a\u4f1d\u5b50\u691c\u67fb\u306e\u7d50\u679c\u3092\u5408\u308f\u305b\u3066\u3001\u78ba\u5b9a\u8a3a\u65ad\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\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%E3%81%93%E3%82%8C%E3%81%8B%E3%82%89%E3%81%AE%E3%83%AD%E3%83%BC%E3%83%89%E3%83%9E%E3%83%83%E3%83%97\"><\/span><strong>\u6cbb\u7642\u3068\u7ba1\u7406\uff1a\u3053\u308c\u304b\u3089\u306e\u30ed\u30fc\u30c9\u30de\u30c3\u30d7<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u81f4\u6b7b\u6027\u9aa8\u7570\u5f62\u6210\u75c72\u578b\u306b\u5bfe\u3059\u308b\u6839\u672c\u6cbb\u7642\u306f\u307e\u3060\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u304c\u3001\u6cbb\u7642\u306e\u76ee\u7684\u306f\u306f\u3063\u304d\u308a\u3057\u3066\u3044\u307e\u3059\u3002<\/strong>\u547c\u5438\u3092\u78ba\u4fdd\u3057\u3001\u8133\u3092\u5b88\u308a\u3001\u304a\u5b50\u69d8\u304c\u5feb\u9069\u306b\u904e\u3054\u305b\u308b\u3088\u3046\u306b\u30b5\u30dd\u30fc\u30c8\u3059\u308b\u3053\u3068\u3067\u3059\u3002FGFR3\u907a\u4f1d\u5b50\u306e\u50cd\u304d\u3092\u6291\u3048\u308b\u85ac\uff08\u8edf\u9aa8\u7121\u5f62\u6210\u75c7\u6cbb\u7642\u85ac\u306a\u3069\uff09\u306e\u7814\u7a76\u3082\u9032\u3093\u3067\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E5%91%BC%E5%90%B8%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>1. \u547c\u5438\u7ba1\u7406\uff08\u6700\u512a\u5148\u4e8b\u9805\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u751f\u307e\u308c\u305f\u76f4\u5f8c\u304b\u3089\u3001\u547d\u3092\u3064\u306a\u3050\u305f\u3081\u306e\u547c\u5438\u30b5\u30dd\u30fc\u30c8\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u4eba\u5de5\u547c\u5438\u5668: \u81ea\u529b\u3067\u306e\u547c\u5438\u304c\u96e3\u3057\u3044\u305f\u3081\u3001\u6c17\u7ba1\u633f\u7ba1\u3092\u3057\u3066\u4eba\u5de5\u547c\u5438\u5668\u3092\u4f7f\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6c17\u7ba1\u5207\u958b: \u9577\u671f\u9593\u306e\u547c\u5438\u7ba1\u7406\u304c\u5fc5\u8981\u306b\u306a\u308b\u305f\u3081\u3001\u5589\u306b\u7a74\u3092\u958b\u3051\u3066\u30ab\u30cb\u30e5\u30fc\u30ec\u3092\u5165\u308c\u308b\u51e6\u7f6e\u3092\u884c\u3046\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\u3059\u3002\u78ba\u5b9f\u306a\u6c17\u9053\u78ba\u4fdd\u306b\u3064\u306a\u304c\u308a\u3001\u5728\u5b85\u3067\u306e\u30b1\u30a2\u3082\u3057\u3084\u3059\u304f\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E8%84%B3%E7%A5%9E%E7%B5%8C%E5%A4%96%E7%A7%91%E7%9A%84%E6%B2%BB%E7%99%82%EF%BC%882%E5%9E%8B%E3%81%A7%E7%89%B9%E3%81%AB%E9%87%8D%E8%A6%81%EF%BC%89\"><\/span><strong>2. \u8133\u795e\u7d4c\u5916\u79d1\u7684\u6cbb\u7642\uff082\u578b\u3067\u7279\u306b\u91cd\u8981\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>2\u578b\u3067\u306f\u3001\u982d\u84cb\u9aa8\u306e\u554f\u984c\u306b\u5bfe\u3059\u308b\u624b\u8853\u304c\u751f\u547d\u4e88\u5f8c\u3084\u767a\u9054\u306b\u5927\u304d\u304f\u95a2\u308f\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u6c34\u982d\u75c7\u306e\u624b\u8853\uff08\u30b7\u30e3\u30f3\u30c8\u8853\uff09: \u8133\u306b\u6c34\u304c\u6e9c\u307e\u3063\u3066\u5727\u304c\u9ad8\u304f\u306a\u3063\u3066\u3044\u308b\u5834\u5408\u3001\u30c1\u30e5\u30fc\u30d6\u3092\u5165\u308c\u3066\u304a\u8179\u306a\u3069\u306b\u6c34\u3092\u9003\u304c\u3059\u624b\u8853\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5927\u5f8c\u982d\u5b54\u6e1b\u5727\u8853\uff08\u3060\u3044\u3053\u3046\u3068\u3046\u3053\u3046\u30fb\u3052\u3093\u3042\u3064\u3058\u3085\u3064\uff09: \u5ef6\u9ac4\u3092\u5727\u8feb\u3057\u3066\u3044\u308b\u5834\u5408\u3001\u5f8c\u982d\u90e8\u306e\u9aa8\u3092\u4e00\u90e8\u524a\u3063\u3066\u5e83\u3052\u308b\u624b\u8853\u3092\u884c\u3044\u307e\u3059\u3002\u547c\u5438\u72b6\u614b\u306e\u5b89\u5b9a\u3084\u3001\u7a81\u7136\u6b7b\u306e\u30ea\u30b9\u30af\u4f4e\u6e1b\u306b\u3064\u306a\u304c\u308b\u51e6\u7f6e\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u982d\u84cb\u5f62\u6210\u8853: \u30af\u30ed\u30fc\u30d0\u30fc\u8449\u982d\u84cb\u306b\u3088\u308b\u8133\u3078\u306e\u5727\u8feb\u304c\u5f37\u3044\u5834\u5408\u3001\u3042\u308b\u3044\u306f\u773c\u7403\u7a81\u51fa\u304c\u5f37\u304f\u76ee\u304c\u9589\u3058\u3089\u308c\u306a\u3044\u5834\u5408\u306a\u3069\u306b\u691c\u8a0e\u3057\u307e\u3059\u3002\u624b\u8853\u306e\u6642\u671f\u3084\u65b9\u6cd5\u306f\u3001\u8133\u795e\u7d4c\u5916\u79d1\u533b\u3084\u5f62\u6210\u5916\u79d1\u533b\u3068\u614e\u91cd\u306b\u76f8\u8ac7\u3057\u3066\u6c7a\u5b9a\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E6%A0%84%E9%A4%8A%E7%AE%A1%E7%90%86\"><\/span><strong>3. \u6804\u990a\u7ba1\u7406<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u547c\u5438\u72b6\u614b\u304c\u5b89\u5b9a\u3059\u308b\u307e\u3067\u306f\u3001\u53e3\u304b\u3089\u98f2\u3080\u306e\u304c\u96e3\u3057\u3044\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u7d4c\u7ba1\u6804\u990a\uff08\u9f3b\u30c1\u30e5\u30fc\u30d6\uff09\u3084\u3001\u9577\u671f\u7684\u306b\u306f\u80c3\u308d\u3046\uff08\u304a\u8179\u304b\u3089\u76f4\u63a5\u6804\u990a\u3092\u5165\u308c\u308b\uff09\u3092\u9078\u629e\u3059\u308b\u3053\u3068\u3067\u3001\u304a\u5b50\u69d8\u306e\u8ca0\u62c5\u3092\u6e1b\u3089\u3057\u3001\u5b89\u5b9a\u3057\u305f\u6804\u990a\u6442\u53d6\u304c\u53ef\u80fd\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E7%B7%A9%E5%92%8C%E3%82%B1%E3%82%A2%E3%81%A8%E6%84%8F%E6%80%9D%E6%B1%BA%E5%AE%9A\"><\/span><strong>4. \u7de9\u548c\u30b1\u30a2\u3068\u610f\u601d\u6c7a\u5b9a<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3069\u306e\u3088\u3046\u306a\u6cbb\u7642\u3092\u9078\u629e\u3059\u308b\u304b\uff08\u624b\u8853\u3092\u3059\u308b\u304b\u3001\u3069\u3053\u307e\u3067\u547c\u5438\u7ba1\u7406\u3092\u3059\u308b\u304b\uff09\u306f\u3001\u3054\u5bb6\u65cf\u306e\u4fa1\u5024\u89b3\u3084\u304a\u5b50\u69d8\u306e\u72b6\u614b\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u533b\u7642\u30c1\u30fc\u30e0\uff08\u65b0\u751f\u5150\u79d1\u3001\u8133\u5916\u79d1\u3001\u7de9\u548c\u30b1\u30a2\u30c1\u30fc\u30e0\u306a\u3069\uff09\u3068\u4f55\u5ea6\u3082\u8a71\u3057\u5408\u3044\u3001\u3054\u5bb6\u65cf\u304c\u7d0d\u5f97\u3067\u304d\u308b\u9078\u629e\u3092\u3057\u3066\u3044\u304f\u30d7\u30ed\u30bb\u30b9\u304c\u5927\u5207\u3067\u3059\u3002\u6b63\u89e3\u306f\u4e00\u3064\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%BA%88%E5%BE%8C%E3%81%A8%E9%95%B7%E6%9C%9F%E7%94%9F%E5%AD%98%E3%81%AB%E3%81%A4%E3%81%84%E3%81%A6\"><\/span><strong>\u4e88\u5f8c\u3068\u9577\u671f\u751f\u5b58\u306b\u3064\u3044\u3066<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u7a4d\u6975\u7684\u306a\u547c\u5438\u7ba1\u7406\u3092\u884c\u308f\u306a\u3044\u5834\u5408\u3001\u591a\u304f\u306e\u304a\u5b50\u69d8\u304c\u51fa\u751f\u5f8c1\u9031\u9593\u4ee5\u5185\u306b\u547c\u5438\u4e0d\u5168\u3067\u4ea1\u304f\u306a\u308b\u8ee2\u5e30\u3092\u305f\u3069\u308a\u307e\u3059\u3002<\/strong>\u3053\u308c\u306f\u96e3\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc\u306e\u89e3\u8aac\u3067\u3082\u793a\u3055\u308c\u3066\u3044\u308b\u3001\u3053\u306e\u75c5\u6c17\u306e\u53b3\u3057\u3044\u73fe\u5b9f\u3067\u3059\u3002\u307e\u305a\u3001\u3053\u306e\u4e8b\u5b9f\u304b\u3089\u76ee\u3092\u80cc\u3051\u305a\u306b\u304a\u4f1d\u3048\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4e00\u65b9\u3067\u3001\u533b\u7642\u306e\u9032\u6b69\u306b\u3088\u308a\u72b6\u6cc1\u306f\u5909\u308f\u308a\u3064\u3064\u3042\u308a\u307e\u3059\u3002\u7a4d\u6975\u7684\u306a\u547c\u5438\u7ba1\u7406\uff08\u6c17\u7ba1\u5207\u958b\u30fb\u4eba\u5de5\u547c\u5438\u5668\uff09\u3068\u3001\u9069\u5207\u306a\u8133\u795e\u7d4c\u5916\u79d1\u624b\u8853\uff08\u6e1b\u5727\u8853\u3084\u30b7\u30e3\u30f3\u30c8\u8853\uff09\u3092\u884c\u3046\u3053\u3068\u3067\u3001\u9577\u671f\u751f\u5b58\u3059\u308b\u304a\u5b50\u69d8\u304c\u5897\u3048\u3066\u3044\u307e\u3059\u3002\u96e3\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc\u304c\u7d39\u4ecb\u3059\u308b2019\u5e74\u306e\u5831\u544a\u3067\u306f\u3001\u6570\u5e74\u4ee5\u4e0a\u306b\u308f\u305f\u308b\u9577\u671f\u751f\u5b58\u4f8b\u304c\u8907\u6570\u78ba\u8a8d\u3055\u308c\u3066\u3044\u307e\u3059\u3002GeneReviews\u306b\u3082\u3001\u6210\u4eba\u671f\u307e\u3067\u751f\u5b58\u3057\u305f\u75c7\u4f8b\u306e\u5831\u544a\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u305f\u3060\u3057\u3001\u9577\u671f\u751f\u5b58\u3055\u308c\u305f\u5834\u5408\u3067\u3082\u3001\u8eab\u4f53\u7684\u306a\u767a\u9054\u3084\u77e5\u7684\u306a\u767a\u9054\u306b\u5927\u304d\u306a\u5236\u7d04\u304c\u6b8b\u308b\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\u3059\u3002\u3053\u306e\u70b9\u3082\u3001\u4e8b\u524d\u306b\u7406\u89e3\u3057\u3066\u304a\u3044\u3066\u3044\u305f\u3060\u304d\u305f\u3044\u4e8b\u5b9f\u3067\u3059\u3002<\/p>\n\n\n\n<p>NICU\u3092\u5352\u696d\u3057\u3001\u5728\u5b85\u533b\u7642\u3092\u53d7\u3051\u306a\u304c\u3089\u5bb6\u65cf\u3068\u904e\u3054\u3057\u3066\u3044\u308b2\u578b\u306e\u304a\u5b50\u69d8\u305f\u3061\u3082\u3044\u307e\u3059\u3002\u8eab\u4f53\u7684\u306a\u5236\u7d04\u3084\u77e5\u7684\u306a\u767a\u9054\u306e\u9045\u308c\u306f\u3042\u3063\u3066\u3082\u3001\u8c4a\u304b\u306a\u611f\u60c5\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u3002\u5b09\u3057\u3044\u3068\u304d\u306f\u7b11\u3044\u3001\u5acc\u306a\u3068\u304d\u306f\u6012\u308a\u3001\u5bb6\u65cf\u306e\u58f0\u3092\u8a8d\u8b58\u3057\u307e\u3059\u3002\u8996\u7dda\u5165\u529b\u88c5\u7f6e\u3084\u304a\u3082\u3061\u3083\u306e\u30b9\u30a4\u30c3\u30c1\u3092\u4f7f\u3063\u3066\u3001\u81ea\u5206\u306e\u610f\u601d\u3092\u4f1d\u3048\u308b\u7df4\u7fd2\u3092\u3057\u3066\u3044\u308b\u304a\u5b50\u69d8\u3082\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3082\u3061\u308d\u3093\u3001\u611f\u67d3\u75c7\u3078\u306e\u5f31\u3055\u3084\u3001\u3066\u3093\u304b\u3093\u306a\u3069\u306e\u5408\u4f75\u75c7\u7ba1\u7406\u306a\u3069\u3001\u4e57\u308a\u8d8a\u3048\u308b\u3079\u304d\u8ab2\u984c\u306f\u591a\u304f\u3042\u308a\u307e\u3059\u3002\u7a4d\u6975\u7684\u306a\u6cbb\u7642\u3092\u9078\u3076\u304b\u3069\u3046\u304b\u306b\u3001\u6b63\u3057\u3044\u30fb\u9593\u9055\u3063\u3066\u3044\u308b\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u304a\u5b50\u69d8\u3068\u3054\u5bb6\u65cf\u306b\u3068\u3063\u3066\u7d0d\u5f97\u3067\u304d\u308b\u9053\u3092\u3001\u533b\u7642\u30c1\u30fc\u30e0\u3068\u4e00\u7dd2\u306b\u63a2\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=\"%E5%88%A9%E7%94%A8%E3%81%A7%E3%81%8D%E3%82%8B%E5%85%AC%E7%9A%84%E6%94%AF%E6%8F%B4%E5%88%B6%E5%BA%A6\"><\/span><strong>\u5229\u7528\u3067\u304d\u308b\u516c\u7684\u652f\u63f4\u5236\u5ea6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u30bf\u30ca\u30c8\u30d5\u30a9\u30ea\u30c3\u30af\u9aa8\u7570\u5f62\u6210\u75c7\u306f\u56fd\u306e\u6307\u5b9a\u96e3\u75c5\uff08\u6307\u5b9a\u96e3\u75c5275\uff09\u306b\u6307\u5b9a\u3055\u308c\u3066\u304a\u308a\u3001\u533b\u7642\u8cbb\u52a9\u6210\u306e\u5bfe\u8c61\u3068\u306a\u308b\u5236\u5ea6\u304c\u3042\u308a\u307e\u3059\u3002<\/strong>\u304a\u5b50\u69d8\u306e\u5e74\u9f62\u3084\u72b6\u6cc1\u306b\u5fdc\u3058\u3066\u3001\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u5236\u5ea6\u306e\u5229\u7528\u3092\u691c\u8a0e\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6307\u5b9a\u96e3\u75c5\u533b\u7642\u8cbb\u52a9\u6210\u5236\u5ea6:<\/strong> \u4e00\u5b9a\u306e\u57fa\u6e96\u3092\u6e80\u305f\u3059\u5834\u5408\u3001\u533b\u7642\u8cbb\u306e\u81ea\u5df1\u8ca0\u62c5\u304c\u8efd\u6e1b\u3055\u308c\u308b\u5236\u5ea6\u3067\u3059\u3002\u304a\u4f4f\u307e\u3044\u306e\u90fd\u9053\u5e9c\u770c\u30fb\u4fdd\u5065\u6240\u304c\u7a93\u53e3\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5c0f\u5150\u6162\u6027\u7279\u5b9a\u75be\u75c5\u533b\u7642\u8cbb\u52a9\u6210\u5236\u5ea6:<\/strong> 18\u6b73\u672a\u6e80\u306e\u304a\u5b50\u69d8\u3092\u5bfe\u8c61\u3068\u3057\u305f\u533b\u7642\u8cbb\u52a9\u6210\u5236\u5ea6\u3067\u3059\u3002\u5c0f\u5150\u6162\u6027\u7279\u5b9a\u75be\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc\u306e\u75be\u60a3\u4e00\u89a7\u306b\u3001\u30bf\u30ca\u30c8\u30d5\u30a9\u30ea\u30c3\u30af\u9aa8\u7570\u5f62\u6210\u75c7\u304c\u63b2\u8f09\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8eab\u4f53\u969c\u5bb3\u8005\u624b\u5e33\u30fb\u7642\u80b2\u624b\u5e33: \u75c7\u72b6\u306e\u7a0b\u5ea6\u306b\u5fdc\u3058\u3066\u3001\u5404\u7a2e\u624b\u5f53\u3084\u798f\u7949\u30b5\u30fc\u30d3\u30b9\u306e\u5bfe\u8c61\u306b\u306a\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u5236\u5ea6\u306e\u8a73\u3057\u3044\u5bfe\u8c61\u57fa\u6e96\u3084\u52a9\u6210\u984d\u306f\u3001\u304a\u5b50\u69d8\u306e\u72b6\u614b\u3084\u81ea\u6cbb\u4f53\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u307e\u3059\u3002\u5165\u9662\u5148\u306e\u533b\u7642\u30bd\u30fc\u30b7\u30e3\u30eb\u30ef\u30fc\u30ab\u30fc\u3084\u3001\u304a\u4f4f\u307e\u3044\u306e\u81ea\u6cbb\u4f53\u306e\u7a93\u53e3\u306b\u76f8\u8ac7\u3057\u3066\u304f\u3060\u3055\u3044\u3002\u591a\u304f\u306e\u75c5\u9662\u3067\u306f\u3001\u8a3a\u65ad\u304c\u78ba\u5b9a\u3057\u305f\u6bb5\u968e\u3067\u7533\u8acb\u624b\u7d9a\u304d\u306e\u6848\u5185\u3092\u53d7\u3051\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%A6%8A%E5%A8%A0%E4%B8%AD%E3%81%AENIPT%E3%81%A8%E3%81%AE%E9%96%A2%E4%BF%82\"><\/span><strong>\u598a\u5a20\u4e2d\u306eNIPT\u3068\u306e\u95a2\u4fc2<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u81f4\u6b7b\u6027\u9aa8\u7570\u5f62\u6210\u75c72\u578b\u306f\u3001FGFR3\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\u3001FGFR3\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\u304cFGFR3\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>\u6c17\u306b\u306a\u308b\u6240\u898b\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\u591a\u304f\u306e\u5834\u5408\u3001\u3053\u306e\u75c5\u6c17\u306f\u30a8\u30b3\u30fc\u691c\u67fb\u3067\u306e\u9aa8\u683c\u6240\u898b\u3092\u304d\u3063\u304b\u3051\u306b\u7591\u308f\u308c\u3001\u305d\u306e\u5f8c\u306b\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u3067\u78ba\u5b9a\u3059\u308b\u3068\u3044\u3046\u6d41\u308c\u3092\u305f\u3069\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\u6975\u3081\u3066\u5e0c\u5c11\u306a\u75be\u60a3\u3067\u3042\u308b\u305f\u3081\u3001\u4e00\u6b21\u60c5\u5831\u304c\u4e4f\u3057\u3044\u306e\u306f\u81ea\u7136\u306a\u3053\u3068\u3067\u3059\u3002\u672c\u8a18\u4e8b\u3067\u306f\u4ee3\u308f\u308a\u306b\u3001GeneReviews\u30fbOrphanet\u30fb\u96e3\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc\u30fb\u5c0f\u5150\u6162\u6027\u7279\u5b9a\u75be\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc\u306a\u3069\u3001\u56fd\u5185\u5916\u306e\u516c\u7684\u30fb\u5b66\u8853\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=\"%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>\u3054\u5bb6\u65cf\u3078\u306e\u30e1\u30c3\u30bb\u30fc\u30b8<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u300c\u81f4\u6b7b\u6027\u300d\u3068\u3044\u3046\u8a3a\u65ad\u540d\u3060\u3051\u3067\u3001\u304a\u5b50\u69d8\u306e\u672a\u6765\u3092\u6c7a\u3081\u3064\u3051\u308b\u5fc5\u8981\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/strong>\u62bc\u3057\u3064\u3076\u3055\u308c\u305d\u3046\u306a\u91cd\u3055\u3092\u611f\u3058\u3066\u3044\u308b\u65b9\u3082\u3044\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u304c\u3001\u3053\u306e\u540d\u79f0\u81ea\u4f53\u304c2013\u5e74\u306b\u898b\u76f4\u3055\u308c\u305f\u3068\u3044\u3046\u4e8b\u5b9f\u304c\u793a\u3059\u3068\u304a\u308a\u3001\u533b\u7642\u306e\u7406\u89e3\u306f\u4eca\u3082\u66f4\u65b0\u3055\u308c\u7d9a\u3051\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u73fe\u5834\u3067\u306f\u3001\u300c\u306a\u305c\u81ea\u5206\u306e\u5b50\u3060\u3051\u304c\u300d\u3068\u3044\u3046\u3054\u76f8\u8ac7\u3092\u4f55\u5ea6\u3082\u53d7\u3051\u3066\u304d\u307e\u3057\u305f\u3002\u304a\u4f1d\u3048\u3067\u304d\u308b\u306e\u306f\u3001\u3053\u306e\u75c5\u6c17\u304c\u3054\u4e21\u89aa\u306e\u884c\u3044\u306b\u3088\u308b\u3082\u306e\u3067\u306f\u306a\u3044\u3068\u3044\u3046\u4e8b\u5b9f\u3060\u3051\u3067\u3059\u3002\u539f\u56e0\u306f\u5076\u7136\u751f\u3058\u305f\u907a\u4f1d\u5b50\u306e\u5909\u5316\u3067\u3042\u308a\u3001\u8ab0\u306b\u3082\u9632\u3050\u3053\u3068\u306f\u3067\u304d\u307e\u305b\u3093\u3067\u3057\u305f\u3002<\/p>\n\n\n\n<p>\u6cbb\u7642\u65b9\u91dd\u306b\u8ff7\u3063\u305f\u3068\u304d\u306f\u3001\u4e00\u3064\u306e\u75c5\u9662\u30fb\u4e00\u4eba\u306e\u533b\u5e2b\u306e\u610f\u898b\u3060\u3051\u3067\u6c7a\u3081\u304d\u308b\u5fc5\u8981\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u30bb\u30ab\u30f3\u30c9\u30aa\u30d4\u30cb\u30aa\u30f3\u3092\u6c42\u3081\u308b\u3053\u3068\u3082\u3001\u3054\u5bb6\u65cf\u306e\u6b63\u5f53\u306a\u6a29\u5229\u3067\u3059\u3002\u3072\u3068\u308a\u3067\u62b1\u3048\u8fbc\u307e\u305a\u3001\u533b\u7642\u30c1\u30fc\u30e0\u3084\u5c02\u9580\u5bb6\u306b\u76f8\u8ac7\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/thanatophoric-dysplasia-type1-guide\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u81f4\u6b7b\u6027\u9aa8\u7570\u5f62\u6210\u75c71\u578b\uff08TD1\uff09 <\/div>\n          <div class=\"blog-card-excerpt\">\u81f4\u6b7b\u6027\u9aa8\u7570\u5f62\u6210\u75c71\u578b\uff08Thanatophoric Dysplasia type I\uff09\u3068\u8a3a\u65ad\u3055\u308c\u305f\u3054\u5bb6\u65cf\u3078\u3002\u7279\u5fb4\u7684\u306a\u6e7e\u66f2\u3057\u305f\u5927\u817f\u9aa8\u3084\u80f8\u90ed\u4f4e\u5f62\u6210...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n    <a href=\"\/nipt\/saddan-syndrome-guide\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">SADDAN\uff08\u30b5\u30c0\u30f3\uff09 <\/div>\n          <div class=\"blog-card-excerpt\">SADDAN\uff08Severe Achondroplasia with Developmental Delay and Acanthosis N...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%BE%E3%81%A8%E3%82%81\"><\/span><strong>\u307e\u3068\u3081<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u3053\u3053\u307e\u3067\u306e\u91cd\u8981\u30dd\u30a4\u30f3\u30c8\u3092\u632f\u308a\u8fd4\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li>\u81f4\u6b7b\u6027\u9aa8\u7570\u5f62\u6210\u75c72\u578b\uff08\u30bf\u30ca\u30c8\u30d5\u30a9\u30ea\u30c3\u30af\u9aa8\u7570\u5f62\u6210\u75c72\u578b\uff09\u306f\u3001FGFR3\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308b\u9aa8\u7cfb\u7d71\u75be\u60a3\u3067\u3059\u30022013\u5e74\u306b\u540d\u79f0\u304c\u898b\u76f4\u3055\u308c\u307e\u3057\u305f\u3002<\/li>\n\n\n\n<li>1\u578b\u3068\u306e\u9055\u3044\u306f\u3001\u307e\u3063\u3059\u3050\u306a\u5927\u817f\u9aa8\u3068\u3001\u9855\u8457\u306a\u30af\u30ed\u30fc\u30d0\u30fc\u8449\u982d\u84cb\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u539f\u56e0\u306f\u307b\u307c\u5168\u4f8b\u304c\u7279\u5b9a\u306e\u7a81\u7136\u5909\u7570\uff08K650E\uff09\u3067\u3042\u308a\u3001\u89aa\u304b\u3089\u306e\u907a\u4f1d\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u6b21\u5b50\u3078\u306e\u5f71\u97ff\u306f\u4f4e\u3044\u3082\u306e\u306e\u3001\u8a73\u7d30\u306f\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u78ba\u8a8d\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/li>\n\n\n\n<li>\u547c\u5438\u969c\u5bb3\u306b\u52a0\u3048\u3001\u8133\u3078\u306e\u5727\u8feb\uff08\u6c34\u982d\u75c7\u30fb\u5927\u5f8c\u982d\u5b54\u72ed\u7a84\uff09\u306e\u30ea\u30b9\u30af\u304c\u9ad8\u304f\u3001\u8133\u5916\u79d1\u7684\u306a\u7ba1\u7406\u304c\u6b20\u304b\u305b\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li>\u9069\u5207\u306a\u533b\u7642\u7684\u30b1\u30a2\u306b\u3088\u308a\u3001\u9577\u671f\u751f\u5b58\u3068\u5728\u5b85\u751f\u6d3b\u306e\u5831\u544a\u304c\u5897\u3048\u3066\u3044\u307e\u3059\u3002\u6307\u5b9a\u96e3\u75c5\u30fb\u5c0f\u5150\u6162\u6027\u7279\u5b9a\u75be\u75c5\u306e\u533b\u7642\u8cbb\u52a9\u6210\u5236\u5ea6\u3082\u5229\u7528\u3067\u304d\u307e\u3059\u3002<\/li>\n<\/ol>\n\n\n<!--nipt_mono-->\r\n<div class=\"nipt-mono\">\r\n    <div class=\"nipt-mono-btn\">\r\n        <a href=\"\/nipt\/nipt-mono\/\">\r\n            <img decoding=\"async\" loading=\"lazy\" src=\"\/nipt\/wp-content\/uploads\/2026\/03\/NIPT-MONO.webp\" alt=\"NIPT-MONO\u3067\u8abf\u3079\u3089\u308c\u307e\u3059\">\r\n         <\/a>\r\n    <\/div>\r\n<\/div>\r\n\r\n<style>\r\n.nipt-mono {\r\n    text-align: center; \/* \u89aa\u8981\u7d20\u3067\u6a2a\u4e2d\u592e *\/\r\n}\r\n.nipt-mono a img {\r\n    display: inline-block; \/* \u753b\u50cf\u3092\u30a4\u30f3\u30e9\u30a4\u30f3\u30d6\u30ed\u30c3\u30af\u5316\u3057\u3066 text-align \u306b\u53cd\u6620 *\/\r\n    width: 333px;\r\n}\r\n<\/style>\r\n<!--\/nipt_mono-->\r\n\r\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%E8%87%B4%E6%AD%BB%E6%80%A7%E9%AA%A8%E7%95%B0%E5%BD%A2%E6%88%90%E7%97%87%E3%80%8D%E3%81%A8%E3%80%8C%E3%82%BF%E3%83%8A%E3%83%88%E3%83%95%E3%82%A9%E3%83%AA%E3%83%83%E3%82%AF%E9%AA%A8%E7%95%B0%E5%BD%A2%E6%88%90%E7%97%87%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\u81f4\u6b7b\u6027\u9aa8\u7570\u5f62\u6210\u75c7\u300d\u3068\u300c\u30bf\u30ca\u30c8\u30d5\u30a9\u30ea\u30c3\u30af\u9aa8\u7570\u5f62\u6210\u75c7\u300d\u306f\u9055\u3046\u75c5\u6c17\u3067\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u540c\u3058\u75c5\u6c17\u3067\u3059\u30022013\u5e74\u306b\u540d\u79f0\u304c\u898b\u76f4\u3055\u308c\u3001\u6307\u5b9a\u96e3\u75c5\uff08\u6307\u5b9a\u96e3\u75c5275\uff09\u3068\u3057\u3066\u306e\u6b63\u5f0f\u540d\u79f0\u306f\u300c\u30bf\u30ca\u30c8\u30d5\u30a9\u30ea\u30c3\u30af\u9aa8\u7570\u5f62\u6210\u75c7\u300d\u306b\u306a\u308a\u307e\u3057\u305f\u3002\u547c\u5438\u7ba1\u7406\u3092\u9069\u5207\u306b\u884c\u3048\u3070\u5fc5\u305a\u3057\u3082\u81f4\u6b7b\u7684\u3068\u306f\u9650\u3089\u306a\u3044\u3053\u3068\u304c\u7406\u7531\u3067\u3059\u3002\u4eca\u3082\u300c\u81f4\u6b7b\u6027\u9aa8\u7570\u5f62\u6210\u75c7\u300d\u3068\u3044\u3046\u547c\u3073\u65b9\u304c\u5e83\u304f\u4f7f\u308f\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1%E5%9E%8B%E3%81%A82%E5%9E%8B%E3%81%AF%E3%81%A9%E3%81%86%E8%A6%8B%E5%88%86%E3%81%91%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span>1\u578b\u30682\u578b\u306f\u3069\u3046\u898b\u5206\u3051\u307e\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5927\u817f\u9aa8\uff08\u592a\u3082\u3082\u306e\u9aa8\uff09\u306e\u5f62\u3067\u898b\u5206\u3051\u307e\u3059\u30021\u578b\u306f\u53d7\u8a71\u5668\u306e\u3088\u3046\u306b\u6e7e\u66f2\u3057\u30012\u578b\u306f\u307e\u3063\u3059\u3050\u3067\u3059\u3002\u982d\u84cb\u9aa8\u306e\u5f62\u3082\u30012\u578b\u3067\u306f\u4e09\u3064\u8449\u306e\u30af\u30ed\u30fc\u30d0\u30fc\u306e\u3088\u3046\u306a\u300c\u30af\u30ed\u30fc\u30d0\u30fc\u8449\u982d\u84cb\u300d\u304c\u9ad8\u983b\u5ea6\u306b\u898b\u3089\u308c\u307e\u3059\u3002\u539f\u56e0\u3068\u306a\u308bFGFR3\u907a\u4f1d\u5b50\u306e\u5909\u7570\u90e8\u4f4d\u3082\u7570\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%AC%A1%E3%81%AE%E5%AD%90%E3%81%A9%E3%82%82%E3%81%AB%E3%82%82%E5%90%8C%E3%81%98%E7%97%85%E6%B0%97%E3%81%8C%E8%B5%B7%E3%81%93%E3%82%8B%E7%A2%BA%E7%8E%87%E3%81%AF%E3%81%A9%E3%81%AE%E3%81%8F%E3%82%89%E3%81%84%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u6b21\u306e\u5b50\u3069\u3082\u306b\u3082\u540c\u3058\u75c5\u6c17\u304c\u8d77\u3053\u308b\u78ba\u7387\u306f\u3069\u306e\u304f\u3089\u3044\u3067\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u307b\u307c\u5168\u4f8b\u304c\u65b0\u898f\u306e\u5909\u7570\uff08de novo\u5909\u7570\uff09\u3067\u3042\u308b\u305f\u3081\u3001\u6b21\u306e\u304a\u5b50\u69d8\u3078\u306e\u5f71\u97ff\u306f\u975e\u5e38\u306b\u4f4e\u3044\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u305f\u3060\u3057\u3001\u3054\u4e21\u89aa\u306e\u751f\u6b96\u7d30\u80de\u306e\u4e00\u90e8\u306b\u306e\u307f\u5909\u7570\u304c\u751f\u3058\u3066\u3044\u308b\u300c\u751f\u6b96\u7d30\u80de<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mosaicism\/\">\u30e2\u30b6\u30a4\u30af<\/a>\u300d\u306e\u53ef\u80fd\u6027\u304c\u7406\u8ad6\u4e0a\u6b8b\u308b\u305f\u3081\u3001\u4e00\u822c\u96c6\u56e3\u3088\u308a\u308f\u305a\u304b\u306b\u78ba\u7387\u304c\u9ad8\u3044\u3068\u3059\u308b\u5831\u544a\u304c\u3042\u308a\u307e\u3059\u3002\u6b63\u78ba\u306a\u78ba\u7387\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%87%BA%E7%94%9F%E5%BE%8C%E3%80%81%E3%81%A9%E3%81%AE%E3%81%8F%E3%82%89%E3%81%84%E7%94%9F%E3%81%8D%E3%82%89%E3%82%8C%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u51fa\u751f\u5f8c\u3001\u3069\u306e\u304f\u3089\u3044\u751f\u304d\u3089\u308c\u307e\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u7a4d\u6975\u7684\u306a\u547c\u5438\u7ba1\u7406\u3092\u884c\u308f\u306a\u3044\u5834\u5408\u3001\u591a\u304f\u306e\u304a\u5b50\u69d8\u304c\u51fa\u751f\u5f8c1\u9031\u9593\u4ee5\u5185\u306b\u4ea1\u304f\u306a\u308b\u8ee2\u5e30\u3092\u305f\u3069\u308a\u307e\u3059\u3002\u4e00\u65b9\u3067\u3001\u6c17\u7ba1\u5207\u958b\u3084\u4eba\u5de5\u547c\u5438\u5668\u306b\u3088\u308b\u547c\u5438\u7ba1\u7406\u3001\u8133\u795e\u7d4c\u5916\u79d1\u624b\u8853\u3092\u884c\u3046\u3053\u3068\u3067\u3001\u9577\u671f\u751f\u5b58\u3059\u308b\u4f8b\u304c\u8fd1\u5e74\u5897\u3048\u3066\u3044\u307e\u3059\u3002\u6570\u5e74\u4ee5\u4e0a\u3001\u307e\u308c\u306b\u6210\u4eba\u671f\u307e\u3067\u751f\u5b58\u3057\u305f\u5831\u544a\u3082\u3042\u308a\u307e\u3059\u3002\u3069\u3053\u307e\u3067\u6cbb\u7642\u3092\u884c\u3046\u304b\u306f\u3001\u3054\u5bb6\u65cf\u3068\u533b\u7642\u30c1\u30fc\u30e0\u3067\u306e\u8a71\u3057\u5408\u3044\u306b\u3088\u3063\u3066\u6c7a\u3081\u3066\u3044\u304f\u4e8b\u67c4\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%88%A9%E7%94%A8%E3%81%A7%E3%81%8D%E3%82%8B%E5%8C%BB%E7%99%82%E8%B2%BB%E5%8A%A9%E6%88%90%E5%88%B6%E5%BA%A6%E3%81%AF%E3%81%82%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u5229\u7528\u3067\u304d\u308b\u533b\u7642\u8cbb\u52a9\u6210\u5236\u5ea6\u306f\u3042\u308a\u307e\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u30bf\u30ca\u30c8\u30d5\u30a9\u30ea\u30c3\u30af\u9aa8\u7570\u5f62\u6210\u75c7\u306f\u56fd\u306e\u6307\u5b9a\u96e3\u75c5\u306b\u6307\u5b9a\u3055\u308c\u3066\u304a\u308a\u3001\u6307\u5b9a\u96e3\u75c5\u533b\u7642\u8cbb\u52a9\u6210\u5236\u5ea6\u30fb\u5c0f\u5150\u6162\u6027\u7279\u5b9a\u75be\u75c5\u533b\u7642\u8cbb\u52a9\u6210\u5236\u5ea6\u306e\u5bfe\u8c61\u306b\u306a\u308a\u5f97\u307e\u3059\u3002\u8a73\u3057\u3044\u6761\u4ef6\u306f\u5165\u9662\u5148\u306e\u533b\u7642\u30bd\u30fc\u30b7\u30e3\u30eb\u30ef\u30fc\u30ab\u30fc\u3084\u3001\u304a\u4f4f\u307e\u3044\u306e\u81ea\u6cbb\u4f53\u306e\u7a93\u53e3\u306b\u3054\u78ba\u8a8d\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\u3001FGFR3\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\u591a\u304f\u306e\u5834\u5408\u3001\u598a\u5a20\u4e2d\u306e\u30a8\u30b3\u30fc\u691c\u67fb\u3067\u9aa8\u683c\u306e\u6240\u898b\u304c\u6307\u6458\u3055\u308c\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u306a\u3069\u306e\u78ba\u5b9a\u691c\u67fb\u3092\u7d4c\u3066\u8a3a\u65ad\u306b\u81f3\u308a\u307e\u3059\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 \u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u7d71\u62ec\u9662\u9577\u30fbLabo 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target=\"_blank\" rel=\"noopener\">Thanatophoric Dysplasia\uff5cGeneReviews\uff08\u7c73\u56fd\u56fd\u7acb\u533b\u5b66\u56f3\u66f8\u9928\uff09<\/a>\uff0f<a href=\"https:\/\/www.orpha.net\/en\/disease\/detail\/93274\" target=\"_blank\" rel=\"noopener\">Thanatophoric dysplasia type 2\uff5cOrphanet<\/a>\uff0f<a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4714\" target=\"_blank\" rel=\"noopener\">\u30bf\u30ca\u30c8\u30d5\u30a9\u30ea\u30c3\u30af\u9aa8\u7570\u5f62\u6210\u75c7\uff08\u6307\u5b9a\u96e3\u75c5275\uff09\uff5c\u96e3\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/a>\uff0f<a href=\"https:\/\/www.shouman.jp\/disease\/details\/15_02_004\/\" target=\"_blank\" rel=\"noopener\">\u30bf\u30ca\u30c8\u30d5\u30a9\u30ea\u30c3\u30af\u9aa8\u7570\u5f62\u6210\u75c7\uff5c\u5c0f\u5150\u6162\u6027\u7279\u5b9a\u75be\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/a><\/p>\n\n","protected":false},"excerpt":{"rendered":"\u3053\u306e\u8a18\u4e8b\u306e\u307e\u3068\u3081 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/thanatophoric-dysplasia-type2-guide\/\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":122,"featured_media":121570,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[1392],"tags":[],"class_list":["post-122379","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\/122379","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=122379"}],"version-history":[{"count":3,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/122379\/revisions"}],"predecessor-version":[{"id":134227,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/122379\/revisions\/134227"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/121570"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=122379"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=122379"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=122379"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}