{"id":122494,"date":"2026-01-14T09:34:00","date_gmt":"2026-01-14T00:34:00","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=122494"},"modified":"2026-07-26T05:50:05","modified_gmt":"2026-07-25T20:50:05","slug":"apert-syndrome-fgfr2-craniosynostosis-guide","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/apert-syndrome-fgfr2-craniosynostosis-guide\/","title":{"rendered":"\u30a2\u30da\u30fc\u30eb\u75c7\u5019\u7fa4\uff08Apert\u75c7\u5019\u7fa4\uff09\u3068\u306f\uff5c\u75c7\u72b6\u3068\u6cbb\u7642"},"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>\u30a2\u30da\u30fc\u30eb\u75c7\u5019\u7fa4\uff08Apert\u75c7\u5019\u7fa4\uff09\u306f\u3001FGFR2\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308a\u982d\u84cb\u9aa8\u306e\u7e2b\u5408\u304c\u65e9\u671f\u306b\u7652\u5408\u3057\u3001\u982d\u84cb\u30fb\u9854\u8c8c\u306e\u5f62\u6210\u7570\u5e38\u3068\u624b\u8db3\u306e\u5408\u6307\u75c7\u3092\u4e3b\u5fb4\u3068\u3059\u308b\u5148\u5929\u6027\u75be\u60a3\u3067\u3059\u3002<\/strong>\u65e5\u672c\u3067\u306f\u539a\u751f\u52b4\u50cd\u7701\u306e\u6307\u5b9a\u96e3\u75c5182\u30fb\u5c0f\u5150\u6162\u6027\u7279\u5b9a\u75be\u75c5\u306b\u6307\u5b9a\u3055\u308c\u3066\u304a\u308a\u3001\u533b\u7642\u8cbb\u52a9\u6210\u306e\u5bfe\u8c61\u306b\u306a\u308a\u307e\u3059\u3002\u539f\u56e0\u306e98%\u4ee5\u4e0a\u306fSer252Trp\u307e\u305f\u306fPro253Arg\u3068\u3044\u30462\u7a2e\u985e\u306eFGFR2\u907a\u4f1d\u5b50\u5909\u7570\u3067\u3001\u307b\u3068\u3093\u3069\u304c\u4e21\u89aa\u306b\u539f\u56e0\u306e\u306a\u3044de novo\uff08\u65b0\u751f\u7a81\u7136\u5909\u7570\uff09\u3067\u3059\u3002\u6cbb\u7642\u306f\u4e73\u5150\u671f\u306e\u982d\u84cb\u5f62\u6210\u8853\u306b\u59cb\u307e\u308a\u3001\u5408\u6307\u75c7\u5206\u96e2\u8853\u3001\u5b66\u7ae5\u671f\u4ee5\u964d\u306e\u4e2d\u9854\u9762\u79fb\u52d5\u8853\u3078\u3068\u7d9a\u304f\u9577\u671f\u7684\u306a\u591a\u8077\u7a2e\u30c1\u30fc\u30e0\u533b\u7642\u304c\u57fa\u672c\u306b\u306a\u308a\u307e\u3059\u3002NIPT\u306f21\u30fb18\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/patau-syndrome\/\">13\u30c8\u30ea\u30bd\u30df\u30fc<\/a>\u306a\u3069\u7279\u5b9a\u306e\u67d3\u8272\u4f53\u3092\u5bfe\u8c61\u3068\u3059\u308b\u975e\u78ba\u5b9a\u7684\u691c\u67fb\u3067\u3001FGFR2\u306e\u3088\u3046\u306a\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u306f\u901a\u5e38\u306e\u691c\u67fb\u5bfe\u8c61\u306b\u542b\u307e\u308c\u307e\u305b\u3093\u3002\u6c17\u306b\u306a\u308b\u5834\u5408\u306f\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306b\u3054\u76f8\u8ac7\u304f\u3060\u3055\u3044\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 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/apert-syndrome-fgfr2-craniosynostosis-guide\/#%E3%82%B9%E3%83%86%E3%83%83%E3%83%972%EF%BC%9A%E5%90%88%E6%8C%87%E7%97%87%E5%88%86%E9%9B%A2%E8%A1%93%EF%BC%881%E6%AD%B3%E3%80%9C%EF%BC%89\" >\u30b9\u30c6\u30c3\u30d72\uff1a\u5408\u6307\u75c7\u5206\u96e2\u8853\uff081\u6b73\u301c\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\/apert-syndrome-fgfr2-craniosynostosis-guide\/#%E3%82%B9%E3%83%86%E3%83%83%E3%83%973%EF%BC%9A%E4%B8%AD%E9%A1%94%E9%9D%A2%E7%A7%BB%E5%8B%95%E8%A1%93%EF%BC%88%E5%AD%A6%E7%AB%A5%E6%9C%9F%E3%80%9C%E6%80%9D%E6%98%A5%E6%9C%9F%EF%BC%89\" >\u30b9\u30c6\u30c3\u30d73\uff1a\u4e2d\u9854\u9762\u79fb\u52d5\u8853\uff08\u5b66\u7ae5\u671f\u301c\u601d\u6625\u671f\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\/apert-syndrome-fgfr2-craniosynostosis-guide\/#%E3%83%AA%E3%83%8F%E3%83%93%E3%83%AA%E3%83%86%E3%83%BC%E3%82%B7%E3%83%A7%E3%83%B3%E3%81%A8%E7%99%BA%E9%81%94%E6%94%AF%E6%8F%B4\" >\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u3068\u767a\u9054\u652f\u63f4<\/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\/apert-syndrome-fgfr2-craniosynostosis-guide\/#%E5%BF%83%E7%90%86%E7%A4%BE%E4%BC%9A%E7%9A%84%E3%82%B5%E3%83%9D%E3%83%BC%E3%83%88%E3%81%A8QOL%E3%81%AE%E5%90%91%E4%B8%8A\" >\u5fc3\u7406\u793e\u4f1a\u7684\u30b5\u30dd\u30fc\u30c8\u3068QOL\u306e\u5411\u4e0a<\/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\/apert-syndrome-fgfr2-craniosynostosis-guide\/#%E5%A4%96%E8%A6%8B%E3%81%A8%E3%82%A2%E3%82%A4%E3%83%87%E3%83%B3%E3%83%86%E3%82%A3%E3%83%86%E3%82%A3\" >\u5916\u898b\u3068\u30a2\u30a4\u30c7\u30f3\u30c6\u30a3\u30c6\u30a3<\/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\/apert-syndrome-fgfr2-craniosynostosis-guide\/#%E5%AD%A6%E6%A0%A1%E6%95%99%E8%82%B2%E3%81%A8%E7%A4%BE%E4%BC%9A%E7%94%9F%E6%B4%BB\" >\u5b66\u6821\u6559\u80b2\u3068\u793e\u4f1a\u751f\u6d3b<\/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\/apert-syndrome-fgfr2-craniosynostosis-guide\/#%E5%85%AC%E7%9A%84%E3%81%AA%E5%8C%BB%E7%99%82%E8%B2%BB%E5%8A%A9%E6%88%90%E5%88%B6%E5%BA%A6\" >\u516c\u7684\u306a\u533b\u7642\u8cbb\u52a9\u6210\u5236\u5ea6<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-23\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/apert-syndrome-fgfr2-craniosynostosis-guide\/#NIPT%E3%81%A7%E3%82%8F%E3%81%8B%E3%82%8B%E3%81%93%E3%81%A8%E3%83%BB%E5%87%BA%E7%94%9F%E5%89%8D%E6%A4%9C%E6%9F%BB%E3%81%A8%E3%81%AE%E5%90%91%E3%81%8D%E5%90%88%E3%81%84%E6%96%B9\" >NIPT\u3067\u308f\u304b\u308b\u3053\u3068\u30fb\u51fa\u751f\u524d\u691c\u67fb\u3068\u306e\u5411\u304d\u5408\u3044\u65b9<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-24\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/apert-syndrome-fgfr2-craniosynostosis-guide\/#%E8%BF%B7%E3%81%84%E3%81%AF%E8%87%AA%E7%84%B6%E3%81%AA%E3%81%93%E3%81%A8\" >\u8ff7\u3044\u306f\u81ea\u7136\u306a\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-25\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/apert-syndrome-fgfr2-craniosynostosis-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-26\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/apert-syndrome-fgfr2-craniosynostosis-guide\/#Q_%E3%82%A2%E3%83%9A%E3%83%BC%E3%83%AB%E7%97%87%E5%80%99%E7%BE%A4%E3%81%A8%E3%81%AF%E3%81%A9%E3%82%93%E3%81%AA%E7%97%85%E6%B0%97%E3%81%A7%E3%81%99%E3%81%8B%EF%BC%9F\" >Q. \u30a2\u30da\u30fc\u30eb\u75c7\u5019\u7fa4\u3068\u306f\u3069\u3093\u306a\u75c5\u6c17\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-27\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/apert-syndrome-fgfr2-craniosynostosis-guide\/#Q_%E5%8E%9F%E5%9B%A0%E3%81%AF%E4%BD%95%E3%81%A7%E3%81%99%E3%81%8B%EF%BC%9F%E4%B8%A1%E8%A6%AA%E3%81%8B%E3%82%89%E9%81%BA%E4%BC%9D%E3%81%99%E3%82%8B%E3%81%AE%E3%81%A7%E3%81%99%E3%81%8B%EF%BC%9F\" >Q. \u539f\u56e0\u306f\u4f55\u3067\u3059\u304b\uff1f\u4e21\u89aa\u304b\u3089\u907a\u4f1d\u3059\u308b\u306e\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-28\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/apert-syndrome-fgfr2-craniosynostosis-guide\/#Q_%E6%89%8B%E8%B6%B3%E3%81%AE%E5%90%88%E6%8C%87%E7%97%87%E3%81%AF%E3%81%A9%E3%81%AE%E7%A8%8B%E5%BA%A6%E9%87%8D%E3%81%84%E3%81%AE%E3%81%A7%E3%81%99%E3%81%8B%EF%BC%9F\" >Q. \u624b\u8db3\u306e\u5408\u6307\u75c7\u306f\u3069\u306e\u7a0b\u5ea6\u91cd\u3044\u306e\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\/apert-syndrome-fgfr2-craniosynostosis-guide\/#Q_%E7%9F%A5%E7%9A%84%E7%99%BA%E9%81%94%E3%81%B8%E3%81%AE%E5%BD%B1%E9%9F%BF%E3%81%AF%E3%81%82%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\" >Q. \u77e5\u7684\u767a\u9054\u3078\u306e\u5f71\u97ff\u306f\u3042\u308a\u307e\u3059\u304b\uff1f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-30\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/apert-syndrome-fgfr2-craniosynostosis-guide\/#Q_%E6%B2%BB%E7%99%82%E3%81%AF%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E6%B5%81%E3%82%8C%E3%81%A7%E9%80%B2%E3%81%BF%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\" >Q. \u6cbb\u7642\u306f\u3069\u306e\u3088\u3046\u306a\u6d41\u308c\u3067\u9032\u307f\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\/apert-syndrome-fgfr2-craniosynostosis-guide\/#Q_NIPT%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%EF%BC%9F\" >Q. NIPT\u3067\u3053\u306e\u75c5\u6c17\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-32\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/apert-syndrome-fgfr2-craniosynostosis-guide\/#Q_%E5%8C%BB%E7%99%82%E8%B2%BB%E3%81%AE%E5%8A%A9%E6%88%90%E3%81%AF%E5%8F%97%E3%81%91%E3%82%89%E3%82%8C%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\" >Q. \u533b\u7642\u8cbb\u306e\u52a9\u6210\u306f\u53d7\u3051\u3089\u308c\u307e\u3059\u304b\uff1f<\/a><\/li><\/ul><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%82%A2%E3%83%9A%E3%83%BC%E3%83%AB%E7%97%87%E5%80%99%E7%BE%A4%E3%81%A8%E3%81%AF%EF%BD%9CFGFR2%E9%81%BA%E4%BC%9D%E5%AD%90%E5%A4%89%E7%95%B0%E3%81%8C%E5%8E%9F%E5%9B%A0%E3%81%AE%E5%B8%8C%E5%B0%91%E7%96%BE%E6%82%A3\"><\/span><strong>\u30a2\u30da\u30fc\u30eb\u75c7\u5019\u7fa4\u3068\u306f\uff5cFGFR2\u907a\u4f1d\u5b50\u5909\u7570\u304c\u539f\u56e0\u306e\u5e0c\u5c11\u75be\u60a3<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u30a2\u30da\u30fc\u30eb\u75c7\u5019\u7fa4\u306f\u3001FGFR2\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u982d\u84cb\u9aa8\u306e\u7e2b\u5408\u304c\u65e9\u671f\u306b\u7652\u5408\u3057\u3001\u982d\u84cb\u30fb\u9854\u8c8c\u306e\u5f62\u6210\u7570\u5e38\u3068\u624b\u8db3\u306e\u5408\u6307\u75c7\u304c\u73fe\u308c\u308b\u5148\u5929\u6027\u306e\u5e0c\u5c11\u75be\u60a3\u3067\u3059\u3002<\/strong>1906\u5e74\u3001\u30d5\u30e9\u30f3\u30b9\u306e\u5c0f\u5150\u79d1\u533b\u30e6\u30fc\u30b8\u30f3\u30fb\u30a2\u30da\u30fc\u30eb\u304c\u75c7\u4f8b\u3092\u307e\u3068\u3081\u3066\u5831\u544a\u3057\u305f\u3053\u3068\u304b\u3089\u3001\u3053\u306e\u540d\u524d\u304c\u3064\u304d\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<p>\u767a\u751f\u983b\u5ea6\u306f\u6d77\u5916\u306e\u5831\u544a\u3067\u51fa\u751f6\u4e075,000\u4eba\u304b\u308916\u4e07\u4eba\u306b1\u4eba\u7a0b\u5ea6\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u65e5\u672c\u3067\u306f\u795e\u5948\u5ddd\u770c\u306e\u5148\u5929\u7570\u5e38\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0\u8abf\u67fb\u306715\u4e07\u4eba\u306b1\u4eba\u3068\u3044\u3046\u6570\u5024\u304c\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001\u3053\u308c\u3092\u3082\u3068\u306b\u63a8\u8a08\u3059\u308b\u3068\u56fd\u5185\u306e\u5e74\u9593\u767a\u75c7\u6570\u306f\u304a\u3088\u305d8\u4eba\u7a0b\u5ea6\u3067\u3059\u3002\u6c7a\u3057\u3066\u3088\u304f\u3042\u308b\u75c5\u6c17\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u982d\u84cb\u9aa8\u7e2b\u5408\u65e9\u671f\u7652\u5408\u75c7\u306e\u4e2d\u3067\u306f\u6bd4\u8f03\u7684\u77e5\u3089\u308c\u305f\u75be\u60a3\u306e\u4e00\u3064\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"FGFR2%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AE%E5%BD%B9%E5%89%B2%E3%81%A8%E3%81%97%E3%81%8F%E3%81%BF\"><\/span><strong>FGFR2\u907a\u4f1d\u5b50\u306e\u5f79\u5272\u3068\u3057\u304f\u307f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>FGFR2\u907a\u4f1d\u5b50\u306f\u3001\u7dda\u7dad\u82bd\u7d30\u80de\u5897\u6b96\u56e0\u5b50\u53d7\u5bb9\u4f532\u3068\u3044\u3046\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u8a2d\u8a08\u56f3\u3067\u3059\u3002\u3053\u306e\u53d7\u5bb9\u4f53\u306f\u9aa8\u3092\u4f5c\u308b\u7d30\u80de\u306e\u8868\u9762\u306b\u3042\u308a\u3001\u7d30\u80de\u306e\u5897\u6b96\u30fb\u5206\u5316\u30fb\u904a\u8d70\u3092\u5236\u5fa1\u3059\u308b\u300c\u30a2\u30f3\u30c6\u30ca\u300d\u306e\u3088\u3046\u306a\u5f79\u5272\u3092\u62c5\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8d64\u3061\u3083\u3093\u306e\u982d\u84cb\u9aa8\u306f\u3001\u8133\u306e\u6025\u6fc0\u306a\u6210\u9577\u306b\u5408\u308f\u305b\u3066\u5e83\u304c\u308c\u308b\u3088\u3046\u3001\u8907\u6570\u306e\u9aa8\u306e\u677f\u304c\u7e2b\u5408\u3068\u3044\u3046\u9699\u9593\u3067\u3064\u306a\u304c\u3063\u3066\u3044\u307e\u3059\u3002FGFR2\u306b\u5909\u7570\u304c\u751f\u3058\u308b\u3068\u53d7\u5bb9\u4f53\u304c\u5e38\u306b\u6d3b\u6027\u5316\u3057\u305f\u72b6\u614b\u306b\u306a\u308a\u3001\u3053\u306e\u7e2b\u5408\u304c\u672c\u6765\u306e\u6642\u671f\u3088\u308a\u3082\u65e9\u304f\u9aa8\u3068\u3057\u3066\u7652\u5408\u3057\u3066\u3057\u307e\u3044\u307e\u3059\u3002\u3053\u308c\u304c\u982d\u84cb\u9aa8\u7e2b\u5408\u65e9\u671f\u7652\u5408\u75c7\u306e\u57fa\u672c\u7684\u306a\u3057\u304f\u307f\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%A4%89%E7%95%B0%E3%81%AE%E9%83%A8%E4%BD%8D%E3%81%AB%E3%82%88%E3%82%8B%E7%97%87%E7%8A%B6%E3%81%AE%E5%B9%85%EF%BC%88Ser252Trp%E3%81%A8Pro253Arg%EF%BC%89\"><\/span><strong>\u5909\u7570\u306e\u90e8\u4f4d\u306b\u3088\u308b\u75c7\u72b6\u306e\u5e45\uff08Ser252Trp\u3068Pro253Arg\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p><strong>\u30a2\u30da\u30fc\u30eb\u75c7\u5019\u7fa4\u306e\u539f\u56e0\u3068\u306a\u308b\u5909\u7570\u306f\u3001\u5168\u4f53\u306e98%\u4ee5\u4e0a\u304cFGFR2\u907a\u4f1d\u5b50\u306e252\u756a\u76ee\u307e\u305f\u306f253\u756a\u76ee\u306e\u30a2\u30df\u30ce\u9178\u306b\u96c6\u4e2d\u3057\u3066\u3044\u308b\u3068\u3044\u3046\u7279\u5fb4\u304c\u3042\u308a\u307e\u3059\u3002<\/strong>\u5177\u4f53\u7684\u306b\u306f\u3001Ser252Trp\u3068Pro253Arg\u3068\u3044\u30462\u7a2e\u985e\u306e\u5909\u7570\u306e\u3044\u305a\u308c\u304b\u3067\u3001Ser252Trp\u578b\u306fPro253Arg\u578b\u306e\u304a\u3088\u305d2\u500d\u306e\u983b\u5ea6\u3067\u898b\u3064\u304b\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e2\u3064\u306e\u5909\u7570\u306f\u75c7\u72b6\u306e\u51fa\u65b9\u306b\u3082\u9055\u3044\u3092\u3082\u305f\u3089\u3057\u307e\u3059\u3002\u4e00\u822c\u306bPro253Arg\u578b\u306f\u624b\u8db3\u306e\u5408\u6307\u75c7\u304c\u91cd\u304f\u306a\u308a\u3084\u3059\u304f\u3001Ser252Trp\u578b\u306f\u53e3\u84cb\u88c2\u3092\u4f34\u3046\u983b\u5ea6\u304c\u3084\u3084\u9ad8\u3044\u3068\u3044\u3063\u305f\u50be\u5411\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8fd1\u5e74\u306e\u7814\u7a76\u3067\u306f\u3001\u3053\u306e\u5909\u7570\u90e8\u4f4d\u306e\u9055\u3044\u304c\u4e0a\u6c17\u9053\u306e\u5f62\u614b\u3084\u4e73\u5150\u671f\u306e\u6c17\u9053\u72ed\u7a84\u306e\u30ea\u30b9\u30af\u306b\u3082\u95a2\u308f\u308b\u3053\u3068\u304c\u793a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u540c\u3058\u75c5\u540d\u3067\u3082\u3001\u539f\u56e0\u3068\u306a\u308b\u5909\u7570\u306b\u3088\u3063\u3066\u6ce8\u610f\u3059\u3079\u304d\u5408\u4f75\u75c7\u306e\u6bd4\u91cd\u304c\u5909\u308f\u308b\u70b9\u306f\u3001\u62c5\u5f53\u533b\u3068\u7d4c\u904e\u3092\u8ffd\u3046\u3046\u3048\u3067\u77e5\u3063\u3066\u304a\u304d\u305f\u3044\u30dd\u30a4\u30f3\u30c8\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%BA%E4%BC%9D%E5%BD%A2%E5%BC%8F%EF%BC%88%E9%A1%95%E6%80%A7%E9%81%BA%E4%BC%9D%E3%83%BB%E6%96%B0%E7%94%9F%E7%AA%81%E7%84%B6%E5%A4%89%E7%95%B0%E3%83%BB%E7%88%B6%E8%A6%AA%E3%81%AE%E5%B9%B4%E9%BD%A2%EF%BC%89\"><\/span><strong>\u907a\u4f1d\u5f62\u5f0f\uff08\u9855\u6027\u907a\u4f1d\u30fb\u65b0\u751f\u7a81\u7136\u5909\u7570\u30fb\u7236\u89aa\u306e\u5e74\u9f62\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u30a2\u30da\u30fc\u30eb\u75c7\u5019\u7fa4\u306f\u5e38\u67d3\u8272\u4f53\u9855\u6027\u907a\u4f1d\u306e\u5f62\u5f0f\u3092\u3068\u308a\u307e\u3059\u3002\u60a3\u8005\u304b\u3089\u5b50\u3078\u306e\u907a\u4f1d\u78ba\u7387\u306f50%\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u4e00\u65b9\u3067\u3001\u75c7\u4f8b\u306e95%\u4ee5\u4e0a\u306f\u4e21\u89aa\u306b\u5909\u5316\u304c\u306a\u304f\u3001\u53d7\u7cbe\u5375\u306e\u6bb5\u968e\u3067\u521d\u3081\u3066\u751f\u3058\u308bde 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id=\"%E8%87%A8%E5%BA%8A%E7%9A%84%E7%89%B9%E5%BE%B4%EF%BD%9C%E9%A0%AD%E8%93%8B%E3%83%BB%E9%A1%94%E8%B2%8C%E3%83%BB%E5%9B%9B%E8%82%A2%E3%81%AB%E7%8F%BE%E3%82%8C%E3%82%8B%E7%97%87%E7%8A%B6\"><\/span><strong>\u81e8\u5e8a\u7684\u7279\u5fb4\uff5c\u982d\u84cb\u30fb\u9854\u8c8c\u30fb\u56db\u80a2\u306b\u73fe\u308c\u308b\u75c7\u72b6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u30a2\u30da\u30fc\u30eb\u75c7\u5019\u7fa4\u306e\u75c7\u72b6\u306f\u51fa\u751f\u76f4\u5f8c\u304b\u3089\u73fe\u308c\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u982d\u84cb\u30fb\u9854\u8c8c\u30fb\u624b\u8db3\u3068\u3044\u3046\u4e09\u3064\u306e\u9818\u57df\u306b\u7279\u5fb4\u7684\u306a\u30b5\u30a4\u30f3\u304c\u96c6\u4e2d\u3057\u307e\u3059\u3002<\/strong>\u75c7\u72b6\u306e\u7a0b\u5ea6\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308a\u3001\u3059\u3079\u3066\u306e\u7279\u5fb4\u304c\u305d\u308d\u3046\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%A0%AD%E8%93%8B%E3%81%8A%E3%82%88%E3%81%B3%E9%A1%94%E8%B2%8C%E3%81%AE%E7%89%B9%E5%BE%B4\"><\/span><strong>\u982d\u84cb\u304a\u3088\u3073\u9854\u8c8c\u306e\u7279\u5fb4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u591a\u304f\u306f\u4e21\u5074\u306e\u51a0\u72b6\u7e2b\u5408\u304c\u65e9\u671f\u306b\u7652\u5408\u3059\u308b\u305f\u3081\u3001\u982d\u9802\u90e8\u304c\u9ad8\u304f\u524d\u5f8c\u5f84\u304c\u77ed\u3044\u5c16\u982d\u84cb\uff08\u305b\u3093\u3068\u3046\u304c\u3044\uff09\u3068\u547c\u3070\u308c\u308b\u982d\u306e\u5f62\u306b\u306a\u308a\u307e\u3059\u3002\u77e2\u72b6\u7e2b\u5408\u3084\u30e9\u30e0\u30c0\u7e2b\u5408\u3082\u540c\u6642\u306b\u7652\u5408\u3059\u308b\u4f8b\u304c\u591a\u304f\u898b\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4e2d\u592e\u9854\u9762\u5f62\u6210\u4e0d\u5168:<\/strong> \u9854\u306e\u771f\u3093\u4e2d\uff08\u9f3b\u3084\u4e0a\u984e\uff09\u306e\u6210\u9577\u304c\u9045\u308c\u3001\u9854\u5168\u4f53\u304c\u5e73\u5766\u3001\u3042\u308b\u3044\u306f\u9665\u51f9\u3057\u3066\u898b\u3048\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u773c\u7403\u7a81\u51fa:<\/strong> \u773c\u7aa9\uff08\u76ee\u3092\u53ce\u3081\u308b\u304f\u307c\u307f\uff09\u304c\u6d45\u3044\u305f\u3081\u3001\u76ee\u304c\u7a81\u304d\u51fa\u3066\u3044\u308b\u3088\u3046\u306b\u898b\u3048\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u9ad8\u53e3\u84cb\u30fb\u53e3\u84cb\u88c2:<\/strong> \u53e3\u306e\u4e2d\u306e\u5929\u4e95\u304c\u9ad8\u304f\u3001\u6642\u306b\u306f\u53e3\u84cb\u88c2\u3092\u4f34\u3044\u307e\u3059\u3002\u547c\u5438\u3084\u54fa\u4e73\u306e\u3057\u3065\u3089\u3055\u306b\u3064\u306a\u304c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u982d\u84cb\u5185\u5727\u4ea2\u9032\u3082\u898b\u904e\u3054\u305b\u306a\u3044\u75c7\u72b6\u3067\u3059\u3002\u8133\u304c\u6210\u9577\u3057\u3088\u3046\u3068\u3057\u3066\u3082\u982d\u84cb\u9aa8\u304c\u5e83\u304c\u3089\u306a\u3044\u305f\u3081\u5727\u529b\u304c\u9ad8\u307e\u308a\u3001\u4e0d\u6a5f\u5acc\u3001\u5614\u5410\u3001\u4e73\u5150\u3067\u3042\u308c\u3070\u5927\u6cc9\u9580\u306e\u81a8\u9686\u3068\u3044\u3063\u305f\u5f62\u3067\u6c17\u3065\u304b\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u9069\u5207\u306a\u6642\u671f\u306e\u624b\u8853\u4ecb\u5165\u304c\u3001\u5f8c\u8ff0\u3059\u308b\u767a\u9054\u9762\u3078\u306e\u5f71\u97ff\u3092\u6291\u3048\u308b\u3046\u3048\u3067\u3082\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%89%8B%E8%B6%B3%E3%81%AE%E5%90%88%E6%8C%87%E7%97%87%EF%BC%88%E5%AF%BE%E7%A7%B0%E6%80%A7%E3%81%AE%E8%A4%87%E9%9B%91%E5%90%88%E6%8C%87%E7%97%87%EF%BC%89\"><\/span><strong>\u624b\u8db3\u306e\u5408\u6307\u75c7\uff08\u5bfe\u79f0\u6027\u306e\u8907\u96d1\u5408\u6307\u75c7\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u30a2\u30da\u30fc\u30eb\u75c7\u5019\u7fa4\u3092\u4ed6\u306e\u982d\u84cb\u9aa8\u7e2b\u5408\u65e9\u671f\u7652\u5408\u75c7\u3068\u533a\u5225\u3059\u308b\u6700\u5927\u306e\u7279\u5fb4\u304c\u3001\u56db\u80a2\u306e\u5bfe\u79f0\u7684\u306a\u8907\u96d1\u5408\u6307\u75c7\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u624b\u306e\u5408\u6307\u75c7:<\/strong> \u4eba\u5dee\u3057\u6307\u3001\u4e2d\u6307\u3001\u85ac\u6307\u3092\u4e2d\u5fc3\u306b\u9aa8\u30ec\u30d9\u30eb\u3067\u7652\u5408\u3057\u3001\u3057\u3070\u3057\u3070\u300c\u30df\u30c8\u30f3\u72b6\u306e\u624b\u300d\u3068\u547c\u3070\u308c\u308b\u5f62\u306b\u306a\u308a\u307e\u3059\u3002\u89aa\u6307\u3068\u5c0f\u6307\u306f\u6bd4\u8f03\u7684\u72ec\u7acb\u3057\u3066\u3044\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u7a0b\u5ea6\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8db3\u306e\u5408\u6307\u75c7: \u8db3\u306e\u6307\u3082\u540c\u69d8\u306b\u7652\u5408\u304c\u898b\u3089\u308c\u3001\u6b69\u884c\u3084\u9774\u9078\u3073\u306b\u5f71\u97ff\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u524d\u8ff0\u306e\u3068\u304a\u308a\u3001\u5408\u6307\u75c7\u306e\u91cd\u3055\u306f\u539f\u56e0\u3068\u306a\u308bFGFR2\u5909\u7570\u306e\u30bf\u30a4\u30d7\u306b\u3088\u3063\u3066\u50be\u5411\u304c\u7570\u306a\u308a\u307e\u3059\u3002\u624b\u306e\u6a5f\u80fd\u3092\u3067\u304d\u308b\u3060\u3051\u5f15\u304d\u51fa\u3059\u305f\u3081\u306e\u5206\u96e2\u624b\u8853\u306e\u30bf\u30a4\u30df\u30f3\u30b0\u306f\u3001\u5f8c\u306e\u6cbb\u7642\u306e\u7ae0\u3067\u8a73\u3057\u304f\u8aac\u660e\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%81%B4%E8%A6%9A%E3%83%BB%E8%A6%96%E8%A6%9A%E3%83%BB%E5%91%BC%E5%90%B8%E3%83%BB%E7%99%BA%E9%81%94%E3%81%B8%E3%81%AE%E5%BD%B1%E9%9F%BF\"><\/span><strong>\u8074\u899a\u30fb\u8996\u899a\u30fb\u547c\u5438\u30fb\u767a\u9054\u3078\u306e\u5f71\u97ff<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u982d\u84cb\u30fb\u9854\u8c8c\u306e\u5f62\u6210\u7570\u5e38\u306f\u3001\u5168\u8eab\u306e\u3055\u307e\u3056\u307e\u306a\u6a5f\u80fd\u306b\u3082\u6ce2\u53ca\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8074\u899a\u969c\u5bb3:<\/strong> \u4e2d\u8033\u306e\u69cb\u9020\u7570\u5e38\u3084\u7e70\u308a\u8fd4\u3059\u4e2d\u8033\u708e\u306b\u3088\u308b\u4f1d\u97f3\u96e3\u8074\u306e\u30ea\u30b9\u30af\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8996\u899a\u969c\u5bb3:<\/strong> \u773c\u7403\u7a81\u51fa\u306b\u3088\u308b\u89d2\u819c\u306e\u9732\u51fa\u3084\u3001\u982d\u84cb\u5185\u5727\u4ea2\u9032\u306b\u3088\u308b\u8996\u795e\u7d4c\u306e\u3080\u304f\u307f\u304c\u8996\u529b\u306b\u5f71\u97ff\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u547c\u5438\u5668\u306e\u554f\u984c:<\/strong> \u4e0a\u6c17\u9053\u304c\u72ed\u3044\u305f\u3081\u3001\u7761\u7720\u6642\u7121\u547c\u5438\u75c7\u5019\u7fa4\u3092\u767a\u75c7\u3057\u3084\u3059\u304f\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u77e5\u7684\u767a\u9054\u306b\u3064\u3044\u3066\u306f\u3001\u6b63\u5e38\u7bc4\u56f2\u5185\u3067\u6210\u9577\u3059\u308b\u304a\u5b50\u3055\u3093\u3082\u591a\u3044\u4e00\u65b9\u3001\u982d\u84cb\u5185\u5727\u4ea2\u9032\u304c\u7d9a\u3044\u305f\u5834\u5408\u3084\u6c34\u982d\u75c7\u3092\u5408\u4f75\u3057\u305f\u5834\u5408\u306b\u306f\u3001\u767a\u9054\u306b\u5f71\u97ff\u304c\u53ca\u3076\u53ef\u80fd\u6027\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u65e9\u671f\u306e\u982d\u84cb\u5f62\u6210\u8853\u306b\u3088\u3063\u3066\u5727\u529b\u3092\u89e3\u653e\u3059\u308b\u3053\u3068\u304c\u3001\u767a\u9054\u9762\u306e\u30ea\u30b9\u30af\u3092\u4e0b\u3052\u308b\u3046\u3048\u3067\u3082\u91cd\u8996\u3055\u308c\u3066\u3044\u308b\u7406\u7531\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u30af\u30eb\u30fc\u30be\u30f3\u75c7\u5019\u7fa4\u3068\u306e\u6bd4\u8f03\u3067\u898b\u308b\u3068\u3001\u5408\u6307\u75c7\u306e\u6709\u7121\u304c\u5927\u304d\u306a\u5206\u304b\u308c\u76ee\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<figure class=\"wp-block-table\"><table><thead><tr><th>\u6bd4\u8f03\u9805\u76ee<\/th><th>\u30a2\u30da\u30fc\u30eb\u75c7\u5019\u7fa4<\/th><th>\u30af\u30eb\u30fc\u30be\u30f3\u75c7\u5019\u7fa4<\/th><\/tr><\/thead><tbody><tr><td>\u539f\u56e0\u907a\u4f1d\u5b50<\/td><td>FGFR2\uff08Ser252Trp\/Pro253Arg\u304c98%\u4ee5\u4e0a\uff09<\/td><td>FGFR2\u304c\u591a\u6570\u3001\u307e\u308c\u306bFGFR3<\/td><\/tr><tr><td>\u624b\u8db3\u306e\u5408\u6307\u75c7<\/td><td>\u5bfe\u79f0\u7684\u306a\u8907\u96d1\u5408\u6307\u75c7\u304c\u4e3b\u75c7\u72b6<\/td><td>\u660e\u78ba\u306a\u5408\u6307\u75c7\u306e\u5831\u544a\u306f\u5c11\u306a\u3044<\/td><\/tr><tr><td>\u982d\u84cb\u9aa8\u7e2b\u5408\u65e9\u671f\u7652\u5408<\/td><td>\u51a0\u72b6\u7e2b\u5408\u3092\u4e2d\u5fc3\u306b\u591a\u767a\u3057\u3084\u3059\u3044<\/td><td>\u4e3b\u75c7\u72b6\u3002\u51a0\u72b6\u7e2b\u5408\u304c\u4e2d\u5fc3<\/td><\/tr><tr><td>\u77e5\u7684\u767a\u9054<\/td><td>\u6b63\u5e38\u7bc4\u56f2\u5185\u306e\u4f8b\u3082\u591a\u3044\u304c\u5f71\u97ff\u3092\u53d7\u3051\u3084\u3059\u3044<\/td><td>\u591a\u304f\u306f\u6b63\u5e38\u7bc4\u56f2\u5185<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<p>\u5408\u6307\u75c7\u3092\u4f34\u308f\u306a\u3044\u982d\u84cb\u9aa8\u7e2b\u5408\u65e9\u671f\u7652\u5408\u75c7\u306b\u3064\u3044\u3066\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/crouzon-syndrome-guide\/\">\u30af\u30eb\u30fc\u30be\u30f3\u75c7\u5019\u7fa4\u306e\u89e3\u8aac\u8a18\u4e8b<\/a>\u3067\u8a73\u3057\u304f\u53d6\u308a\u4e0a\u3052\u3066\u3044\u307e\u3059\u3002\u540c\u3058FGFR2\u907a\u4f1d\u5b50\u304c\u539f\u56e0\u3067\u3082\u75c7\u72b6\u306e\u51fa\u65b9\u304c\u7570\u306a\u308b\u75be\u60a3\u3068\u3057\u3066\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/jackson-weiss-syndrome-guide\/\">\u30b8\u30e3\u30af\u30bd\u30f3\u30fb\u30ef\u30a4\u30b9\u75c7\u5019\u7fa4<\/a>\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/pfeiffer-syndrome-comprehensive-guide\/\">\u30d5\u30a1\u30a4\u30d5\u30a1\u30fc\u75c7\u5019\u7fa4<\/a>\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/muenke-syndrome-guide\/\">\u30e0\u30a8\u30f3\u30b1\u75c7\u5019\u7fa4<\/a>\u3082\u3042\u308f\u305b\u3066\u3054\u89a7\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\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%A8%BA%E6%96%AD%E3%81%AE%E3%83%97%E3%83%AD%E3%82%BB%E3%82%B9%EF%BD%9C%E8%BA%AB%E4%BD%93%E6%89%80%E8%A6%8B%E3%81%8B%E3%82%89%E9%81%BA%E4%BC%9D%E5%AD%A6%E7%9A%84%E6%A4%9C%E6%9F%BB%E3%81%BE%E3%81%A7\"><\/span><strong>\u8a3a\u65ad\u306e\u30d7\u30ed\u30bb\u30b9\uff5c\u8eab\u4f53\u6240\u898b\u304b\u3089\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u307e\u3067<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u30a2\u30da\u30fc\u30eb\u75c7\u5019\u7fa4\u306e\u8a3a\u65ad\u306f\u3001\u7279\u5fb4\u7684\u306a\u8eab\u4f53\u6240\u898b\u3068\u753b\u50cf\u691c\u67fb\u3001\u305d\u3057\u3066\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u3092\u7d44\u307f\u5408\u308f\u305b\u3066\u78ba\u5b9a\u3057\u307e\u3059\u3002<\/strong>\u591a\u304f\u306f\u51fa\u751f\u76f4\u5f8c\u306e\u5916\u898b\u304b\u3089\u5f37\u304f\u7591\u308f\u308c\u3001\u305d\u306e\u5f8c\u306e\u691c\u67fb\u3067\u78ba\u5b9a\u8a3a\u65ad\u306b\u81f3\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%BA%AB%E4%BD%93%E6%89%80%E8%A6%8B%E3%81%AE%E7%A2%BA%E8%AA%8D\"><\/span><strong>\u8eab\u4f53\u6240\u898b\u306e\u78ba\u8a8d<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u533b\u5e2b\u306f\u982d\u306e\u5f62\u3001\u9854\u7acb\u3061\u3001\u624b\u8db3\u306e\u6307\u306e\u72b6\u614b\u3092\u8a73\u3057\u304f\u89b3\u5bdf\u3057\u307e\u3059\u3002\u5bfe\u79f0\u6027\u306e\u8907\u96d1\u5408\u6307\u75c7\u306e\u6709\u7121\u306f\u3001\u30af\u30eb\u30fc\u30be\u30f3\u75c7\u5019\u7fa4\u306a\u3069\u5408\u6307\u75c7\u3092\u4f34\u308f\u306a\u3044\u75be\u60a3\u3068\u533a\u5225\u3059\u308b\u91cd\u8981\u306a\u30dd\u30a4\u30f3\u30c8\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%94%BB%E5%83%8F%E6%A4%9C%E6%9F%BB\"><\/span><strong>\u753b\u50cf\u691c\u67fb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u30ec\u30f3\u30c8\u30b2\u30f3\u691c\u67fb<br>\u982d\u84cb\u9aa8\u306e\u7e2b\u5408\u7dda\u304c\u9589\u3058\u3066\u3044\u308b\u304b\u3001\u624b\u8db3\u306e\u9aa8\u306e\u7652\u5408\u306e\u7a0b\u5ea6\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>CT\u691c\u67fb\uff083D-CT\uff09<br>\u982d\u84cb\u9aa8\u3084\u9854\u9762\u306e\u9aa8\u306e\u5f62\u3092\u7acb\u4f53\u7684\u306b\u8a73\u3057\u304f\u8abf\u3079\u307e\u3059\u3002\u3069\u306e\u7e2b\u5408\u7dda\u304c\u9589\u3058\u3066\u3044\u308b\u304b\u3001\u773c\u7aa9\u306e\u5f62\u306f\u3069\u3046\u306a\u3063\u3066\u3044\u308b\u304b\u306a\u3069\u3001\u624b\u8853\u8a08\u753b\u306b\u4e0d\u53ef\u6b20\u306a\u60c5\u5831\u3092\u5f97\u3089\u308c\u307e\u3059\u3002\u88ab\u66dd\u91cf\u3092\u6291\u3048\u305f\u64ae\u5f71\u65b9\u6cd5\u304c\u9078\u629e\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>MRI\u691c\u67fb<br>\u8133\u305d\u306e\u3082\u306e\u306e\u72b6\u614b\u3092\u78ba\u8a8d\u3059\u308b\u305f\u3081\u306b\u884c\u3044\u307e\u3059\u3002\u6c34\u982d\u75c7\u306e\u6709\u7121\u3084\u8133\u306e\u69cb\u9020\u306b\u7570\u5e38\u304c\u306a\u3044\u304b\u3092\u8abf\u3079\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%BA%E4%BC%9D%E5%AD%A6%E7%9A%84%E6%A4%9C%E6%9F%BB\"><\/span><strong>\u907a\u4f1d\u5b66\u7684\u691c\u67fb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u78ba\u5b9a\u8a3a\u65ad\u306e\u305f\u3081\u306b\u306f\u3001\u8840\u6db2\u3092\u63a1\u53d6\u3057\u3066FGFR2\u907a\u4f1d\u5b50\u306bSer252Trp\u3084Pro253Arg\u306a\u3069\u306e\u5909\u7570\u304c\u306a\u3044\u304b\u3092\u8abf\u3079\u307e\u3059\u3002\u8a3a\u65ad\u304c\u78ba\u5b9a\u3059\u308b\u3068\u3001\u6307\u5b9a\u96e3\u75c5\u3068\u3057\u3066\u306e\u533b\u7642\u8cbb\u52a9\u6210\u306e\u7533\u8acb\u3084\u3001\u4eca\u5f8c\u306e\u898b\u901a\u3057\u3092\u7acb\u3066\u308b\u3046\u3048\u3067\u306e\u52a9\u3051\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%87%BA%E7%94%9F%E5%89%8D%E3%81%AE%E8%A8%BA%E6%96%AD%E3%81%AB%E3%81%A4%E3%81%84%E3%81%A6\"><\/span><strong>\u51fa\u751f\u524d\u306e\u8a3a\u65ad\u306b\u3064\u3044\u3066<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u598a\u5a20\u4e2d\u306e\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u306f\u3001\u91cd\u75c7\u4f8b\u3067\u982d\u306e\u5f62\u306e\u7570\u5e38\u3084\u30af\u30ed\u30fc\u30d0\u30fc\u8449\u982d\u84cb\u306e\u3088\u3046\u306a\u6240\u898b\u304b\u3089\u7591\u308f\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u8efd\u75c7\u4f8b\u3067\u306f\u51fa\u751f\u524d\u306b\u6c17\u3065\u304b\u308c\u306a\u3044\u3053\u3068\u3082\u73cd\u3057\u304f\u3042\u308a\u307e\u305b\u3093\u3002\u5bb6\u65cf\u6b74\u304c\u3042\u308a\u4e8b\u524d\u306b\u5909\u7570\u304c\u5224\u660e\u3057\u3066\u3044\u308b\u5834\u5408\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chorionic-villus-test\/\">\u7d68\u6bdb\u691c\u67fb<\/a>\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u3067FGFR2\u907a\u4f1d\u5b50\u3092\u76f4\u63a5\u8abf\u3079\u308b\u65b9\u6cd5\u304c\u9078\u629e\u80a2\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2025\/09\/33413796_s.webp\" alt=\"\u982d\u84cb\u9aa8\u7e2b\u5408\u65e9\u671f\u7652\u5408\u75c7\u306e\u6cbb\u7642\u3092\u652f\u3048\u308b\u591a\u8077\u7a2e\u30c1\u30fc\u30e0\u533b\u7642\u306e\u30a4\u30e1\u30fc\u30b8\" class=\"wp-image-116410\"\/><\/figure><\/div>\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%B2%BB%E7%99%82%E6%88%A6%E7%95%A5%EF%BD%9C%E5%A4%9A%E8%81%B7%E7%A8%AE%E3%83%81%E3%83%BC%E3%83%A0%E3%81%AB%E3%82%88%E3%82%8B%E9%95%B7%E6%9C%9F%E7%9A%84%E3%81%AA%E7%AE%A1%E7%90%86\"><\/span><strong>\u6cbb\u7642\u6226\u7565\uff5c\u591a\u8077\u7a2e\u30c1\u30fc\u30e0\u306b\u3088\u308b\u9577\u671f\u7684\u306a\u7ba1\u7406<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u30a2\u30da\u30fc\u30eb\u75c7\u5019\u7fa4\u306e\u6cbb\u7642\u306f\u3001\u8133\u795e\u7d4c\u5916\u79d1\u3001\u5f62\u6210\u5916\u79d1\u3001\u6574\u5f62\u5916\u79d1\u3001\u5c0f\u5150\u79d1\u3001\u6b6f\u79d1\u3001\u8033\u9f3b\u54bd\u5589\u79d1\u306a\u3069\u306b\u3088\u308b\u9577\u671f\u7684\u306a\u30c1\u30fc\u30e0\u533b\u7642\u304c\u57fa\u672c\u3067\u3059\u3002<\/strong>\u4e00\u5ea6\u306e\u624b\u8853\u3067\u5b8c\u7d50\u3059\u308b\u3082\u306e\u3067\u306f\u306a\u304f\u3001\u6210\u9577\u6bb5\u968e\u306b\u5408\u308f\u305b\u3066\u8907\u6570\u56de\u306e\u4ecb\u5165\u3092\u884c\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%82%B9%E3%83%86%E3%83%83%E3%83%971%EF%BC%9A%E9%A0%AD%E8%93%8B%E5%BD%A2%E6%88%90%E8%A1%93%EF%BC%88%E4%B9%B3%E5%85%90%E6%9C%9F%EF%BC%89\"><\/span><strong>\u30b9\u30c6\u30c3\u30d71\uff1a\u982d\u84cb\u5f62\u6210\u8853\uff08\u4e73\u5150\u671f\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8133\u306e\u6210\u9577\u30b9\u30da\u30fc\u30b9\u3092\u78ba\u4fdd\u3057\u3001\u982d\u84cb\u5185\u5727\u3092\u4e0b\u3052\u308b\u305f\u3081\u306e\u624b\u8853\u3067\u3059\u3002\u901a\u5e38\u3001\u751f\u5f8c6\u30f6\u6708\u304b\u30891\u6b73\u9803\u307e\u3067\u306b\u884c\u308f\u308c\u307e\u3059\u3002\u9aa8\u3092\u5207\u3063\u3066\u5c11\u3057\u305a\u3064\u5e83\u3052\u308b\u88c5\u7f6e\uff08\u5ef6\u9577\u5668\uff09\u3092\u4f7f\u3046\u982d\u84cb\u9aa8\u5ef6\u9577\u8853\u304c\u5e83\u304f\u63a1\u7528\u3055\u308c\u3066\u304a\u308a\u3001\u4f53\u3078\u306e\u8ca0\u62c5\u3092\u6291\u3048\u306a\u304c\u3089\u5bb9\u7a4d\u3092\u62e1\u5927\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%82%B9%E3%83%86%E3%83%83%E3%83%972%EF%BC%9A%E5%90%88%E6%8C%87%E7%97%87%E5%88%86%E9%9B%A2%E8%A1%93%EF%BC%881%E6%AD%B3%E3%80%9C%EF%BC%89\"><\/span><strong>\u30b9\u30c6\u30c3\u30d72\uff1a\u5408\u6307\u75c7\u5206\u96e2\u8853\uff081\u6b73\u301c\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6a5f\u80fd\u7684\u306a\u300c\u624b\u300d\u3092\u7372\u5f97\u3059\u308b\u305f\u3081\u306b\u884c\u308f\u308c\u307e\u3059\u3002\u89aa\u6307\u3068\u5c0f\u6307\u306e\u72ec\u7acb\u3092\u512a\u5148\u3057\u3001\u65e5\u5e38\u751f\u6d3b\u306e\u8cea\uff08ADL\uff09\u3092\u9ad8\u3081\u308b\u3053\u3068\u3092\u76ee\u6307\u3057\u307e\u3059\u3002\u7652\u5408\u306e\u7a0b\u5ea6\u306b\u3088\u308a\u8907\u6570\u56de\u306e\u624b\u8853\u304c\u5fc5\u8981\u306b\u306a\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%82%B9%E3%83%86%E3%83%83%E3%83%973%EF%BC%9A%E4%B8%AD%E9%A1%94%E9%9D%A2%E7%A7%BB%E5%8B%95%E8%A1%93%EF%BC%88%E5%AD%A6%E7%AB%A5%E6%9C%9F%E3%80%9C%E6%80%9D%E6%98%A5%E6%9C%9F%EF%BC%89\"><\/span><strong>\u30b9\u30c6\u30c3\u30d73\uff1a\u4e2d\u9854\u9762\u79fb\u52d5\u8853\uff08\u5b66\u7ae5\u671f\u301c\u601d\u6625\u671f\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u9854\u9762\u4e2d\u592e\u90e8\u306e\u9aa8\u3092\u524d\u65b9\u306b\u79fb\u52d5\u3055\u305b\u308b\u30eb\u30fb\u30d5\u30a9\u30fcIII\u578b\u9aa8\u5207\u308a\u8853\u306a\u3069\u3092\u884c\u3044\u3001\u773c\u7403\u306e\u4fdd\u8b77\u3001\u4e0a\u6c17\u9053\u306e\u78ba\u4fdd\u3001\u565b\u307f\u5408\u308f\u305b\u306e\u6539\u5584\u3092\u56f3\u308a\u307e\u3059\u3002\u9aa8\u5ef6\u9577\u6cd5\uff08\u30c7\u30a3\u30b9\u30c8\u30e9\u30af\u30b7\u30e7\u30f3\uff09\u3092\u4f75\u7528\u3059\u308b\u3053\u3068\u3067\u3001\u3088\u308a\u5927\u304d\u306a\u79fb\u52d5\u91cf\u3092\u5b89\u5168\u306b\u5f97\u3089\u308c\u308b\u3088\u3046\u306b\u306a\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%83%AA%E3%83%8F%E3%83%93%E3%83%AA%E3%83%86%E3%83%BC%E3%82%B7%E3%83%A7%E3%83%B3%E3%81%A8%E7%99%BA%E9%81%94%E6%94%AF%E6%8F%B4\"><\/span><strong>\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u3068\u767a\u9054\u652f\u63f4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u624b\u6307\u306e\u624b\u8853\u5f8c\u306f\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09\u304c\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u307e\u3059\u3002\u767a\u9054\u306e\u9045\u308c\u304c\u898b\u3089\u308c\u308b\u5834\u5408\u306f\u3001\u65e9\u671f\u304b\u3089\u306e\u7642\u80b2\u652f\u63f4\u3084\u8a00\u8a9e\u7642\u6cd5\uff08ST\uff09\u3092\u7d44\u307f\u5408\u308f\u305b\u3001\u793e\u4f1a\u3078\u306e\u9069\u5fdc\u3092\u652f\u3048\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%BF%83%E7%90%86%E7%A4%BE%E4%BC%9A%E7%9A%84%E3%82%B5%E3%83%9D%E3%83%BC%E3%83%88%E3%81%A8QOL%E3%81%AE%E5%90%91%E4%B8%8A\"><\/span><strong>\u5fc3\u7406\u793e\u4f1a\u7684\u30b5\u30dd\u30fc\u30c8\u3068QOL\u306e\u5411\u4e0a<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u30a2\u30da\u30fc\u30eb\u75c7\u5019\u7fa4\u306f\u5916\u898b\u306e\u7279\u5fb4\u304c\u9855\u8457\u3067\u3042\u308b\u305f\u3081\u3001\u60a3\u8005\u672c\u4eba\u3068\u3054\u5bb6\u65cf\u3078\u306e\u5fc3\u7406\u7684\u30b1\u30a2\u304c\u6cbb\u7642\u3068\u540c\u3058\u304f\u3089\u3044\u91cd\u8981\u3067\u3059\u3002<\/strong>\u533b\u7642\u9762\u3060\u3051\u3067\u306a\u304f\u3001\u751f\u6d3b\u5168\u4f53\u3092\u652f\u3048\u308b\u8996\u70b9\u304c\u6b20\u304b\u305b\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%A4%96%E8%A6%8B%E3%81%A8%E3%82%A2%E3%82%A4%E3%83%87%E3%83%B3%E3%83%86%E3%82%A3%E3%83%86%E3%82%A3\"><\/span><strong>\u5916\u898b\u3068\u30a2\u30a4\u30c7\u30f3\u30c6\u30a3\u30c6\u30a3<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6210\u9577\u904e\u7a0b\u306b\u304a\u3044\u3066\u81ea\u8eab\u306e\u5916\u898b\u306b\u5bfe\u3059\u308b\u8a8d\u8b58\u304c\u5909\u308f\u308b\u6642\u671f\u306b\u306f\u3001\u9069\u5207\u306a\u30e1\u30f3\u30bf\u30eb\u30d8\u30eb\u30b9\u30b1\u30a2\u304c\u5fc5\u8981\u3067\u3059\u3002\u540c\u3058\u75be\u60a3\u3092\u6301\u3064\u60a3\u8005\u4f1a\uff08\u30d4\u30a2\u30b5\u30dd\u30fc\u30c8\uff09\u3078\u306e\u53c2\u52a0\u306f\u3001\u5b64\u72ec\u611f\u3092\u8efd\u6e1b\u3057\u3001\u5b9f\u7528\u7684\u306a\u60c5\u5831\u3092\u5f97\u308b\u8cb4\u91cd\u306a\u5834\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%AD%A6%E6%A0%A1%E6%95%99%E8%82%B2%E3%81%A8%E7%A4%BE%E4%BC%9A%E7%94%9F%E6%B4%BB\"><\/span><strong>\u5b66\u6821\u6559\u80b2\u3068\u793e\u4f1a\u751f\u6d3b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u591a\u304f\u306e\u5b50\u3069\u3082\u305f\u3061\u306f\u901a\u5e38\u306e\u5b66\u6821\u6559\u80b2\u3092\u53d7\u3051\u3089\u308c\u307e\u3059\u304c\u3001\u8996\u899a\u30fb\u8074\u899a\u306e\u88dc\u5b8c\u3084\u3001\u624b\u6307\u306e\u6a5f\u80fd\u306b\u5fdc\u3058\u305f\u5b66\u7fd2\u74b0\u5883\u306e\u8abf\u6574\uff08\u30bf\u30d6\u30ec\u30c3\u30c8\u306e\u4f7f\u7528\u306a\u3069\uff09\u304c\u671b\u307e\u3057\u3044\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%85%AC%E7%9A%84%E3%81%AA%E5%8C%BB%E7%99%82%E8%B2%BB%E5%8A%A9%E6%88%90%E5%88%B6%E5%BA%A6\"><\/span><strong>\u516c\u7684\u306a\u533b\u7642\u8cbb\u52a9\u6210\u5236\u5ea6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u30a2\u30da\u30fc\u30eb\u75c7\u5019\u7fa4\u306f\u539a\u751f\u52b4\u50cd\u7701\u306e\u6307\u5b9a\u96e3\u75c5182\u3067\u3042\u308a\u3001\u5c0f\u5150\u6162\u6027\u7279\u5b9a\u75be\u75c5\u306b\u3082\u6307\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u751f\u6daf\u306b\u308f\u305f\u308b\u9ad8\u5ea6\u306a\u533b\u7642\u7ba1\u7406\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u3092\u3075\u307e\u3048\u3001\u533b\u7642\u8cbb\u52a9\u6210\u306e\u5bfe\u8c61\u3068\u3057\u3066\u5236\u5ea6\u304c\u6574\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u7533\u8acb\u306e\u7a93\u53e3\u306f\u5404\u81ea\u6cbb\u4f53\u306e\u62c5\u5f53\u90e8\u7f72\u3084\u3001\u6cbb\u7642\u3092\u53d7\u3051\u3066\u3044\u308b\u533b\u7642\u6a5f\u95a2\u306e\u76f8\u8ac7\u7a93\u53e3\u3067\u3059\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"NIPT%E3%81%A7%E3%82%8F%E3%81%8B%E3%82%8B%E3%81%93%E3%81%A8%E3%83%BB%E5%87%BA%E7%94%9F%E5%89%8D%E6%A4%9C%E6%9F%BB%E3%81%A8%E3%81%AE%E5%90%91%E3%81%8D%E5%90%88%E3%81%84%E6%96%B9\"><\/span><strong>NIPT\u3067\u308f\u304b\u308b\u3053\u3068\u30fb\u51fa\u751f\u524d\u691c\u67fb\u3068\u306e\u5411\u304d\u5408\u3044\u65b9<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>NIPT\u306f\u4e3b\u306b21\u30fb18\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/patau-syndrome\/\">13\u30c8\u30ea\u30bd\u30df\u30fc<\/a>\u306a\u3069\u7279\u5b9a\u306e\u67d3\u8272\u4f53\u3092\u5bfe\u8c61\u3068\u3059\u308b\u975e\u78ba\u5b9a\u7684\u691c\u67fb\u3067\u3001FGFR2\u306e\u3088\u3046\u306a\u5358\u4e00\u907a\u4f1d\u5b50\u304c\u539f\u56e0\u306e\u75c5\u6c17\u306f\u4e00\u822c\u7684\u306a\u691c\u67fb\u5bfe\u8c61\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/strong>\u51fa\u751f\u524d\u306b\u5206\u304b\u308b\u7bc4\u56f2\u306b\u306f\u9650\u754c\u304c\u3042\u308b\u304b\u3089\u3053\u305d\u3001\u691c\u67fb\u3067\u4f55\u304c\u5206\u304b\u308b\u306e\u304b\u3092\u4e8b\u524d\u306b\u77e5\u3063\u3066\u304a\u304f\u3053\u3068\u304c\u5b89\u5fc3\u306b\u3064\u306a\u304c\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>NIPT\u306f\u3001\u598a\u5a66\u3055\u3093\u306e\u8840\u6db2\u3092\u4f7f\u3063\u3066\u7279\u5b9a\u306e\u67d3\u8272\u4f53\u306e\u6570\u306e\u5909\u5316\u3092\u8abf\u3079\u308b\u691c\u67fb\u3067\u3059\u3002\u78ba\u5b9a\u8a3a\u65ad\u3067\u306f\u306a\u3044\u305f\u3081\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\u7684\u306a\u691c\u67fb\u3092\u691c\u8a0e\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30afNIPT\u3067\u306f\u57fa\u672c\u30c8\u30ea\u30bd\u30df\u30fc\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u75c7\u5019\u7fa4\u306b\u52a0\u3048\u3001\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3200\u7a2e\u985e\u4ee5\u4e0a\u3092\u5bfe\u8c61\u306b\u542b\u3080\u691c\u67fb\u30e1\u30cb\u30e5\u30fc\u3082\u7528\u610f\u3057\u3066\u3044\u307e\u3059\u3002\u5bb6\u65cf\u6b74\u304c\u3042\u308b\u306a\u3069\u6c17\u306b\u306a\u308b\u4e8b\u60c5\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u691c\u67fb\u306e\u9078\u629e\u80a2\u3092\u76f8\u8ac7\u3057\u3066\u304f\u3060\u3055\u3044\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u75c7\u5019\u7fa4\u306a\u3069\u3001NIPT\u3067\u5206\u304b\u308b\u7bc4\u56f2\u306e\u8a73\u7d30\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/early-nipt-microdeletion-syndrome\/\">\u65e9\u671fNIPT\u3067\u767a\u898b\u3067\u304d\u308b\u5fae\u5c0f\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u8a18\u4e8b<\/a>\u3067\u3082\u89e3\u8aac\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%BF%B7%E3%81%84%E3%81%AF%E8%87%AA%E7%84%B6%E3%81%AA%E3%81%93%E3%81%A8\"><\/span><strong>\u8ff7\u3044\u306f\u81ea\u7136\u306a\u3053\u3068<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u805e\u304d\u6163\u308c\u306a\u3044\u75c5\u540d\u3092\u8abf\u3079\u308b\u307b\u3069\u3001\u4e0d\u5b89\u304c\u5927\u304d\u304f\u306a\u308b\u65b9\u3082\u5c11\u306a\u304f\u3042\u308a\u307e\u305b\u3093\u3002\u79c1\u81ea\u8eab\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u73fe\u5834\u3067\u300c\u691c\u67fb\u3067\u5168\u90e8\u308f\u304b\u308b\u3068\u601d\u3063\u3066\u3044\u305f\u300d\u3068\u6238\u60d1\u3046\u58f0\u3092\u4f55\u5ea6\u3082\u805e\u3044\u3066\u304d\u307e\u3057\u305f\u3002\u5206\u304b\u3089\u306a\u3044\u3053\u3068\u304c\u591a\u3044\u304b\u3089\u3053\u305d\u3001\u5c02\u9580\u5bb6\u3068\u4e00\u7dd2\u306b\u6574\u7406\u3057\u3066\u3044\u304f\u59ff\u52e2\u304c\u652f\u3048\u306b\u306a\u308a\u307e\u3059\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\n<p>\u982d\u84cb\u5f62\u6210\u8853\u306e\u6280\u8853\u306f\u5e74\u3005\u9032\u6b69\u3057\u3066\u304a\u308a\u3001\u5916\u6765\u3067\u7d4c\u904e\u3092\u898b\u3066\u3044\u3066\u3082\u3001\u65e9\u671f\u306e\u4ecb\u5165\u306b\u3088\u3063\u3066\u843d\u3061\u7740\u3044\u305f\u751f\u6d3b\u3092\u9001\u308b\u304a\u5b50\u3055\u3093\u304c\u5897\u3048\u3066\u304d\u305f\u5b9f\u611f\u304c\u3042\u308a\u307e\u3059\u3002\u3069\u3093\u306a\u691c\u67fb\u306b\u3082\u5206\u304b\u308b\u3053\u3068\u3068\u5206\u304b\u3089\u306a\u3044\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u4e00\u4eba\u3067\u62b1\u3048\u8fbc\u307e\u305a\u3001\u5c02\u9580\u5bb6\u3068\u4e00\u7dd2\u306b\u8003\u3048\u3066\u3044\u304f\u3053\u3068\u304c\u3001\u843d\u3061\u7740\u3044\u305f\u5224\u65ad\u3078\u306e\u8fd1\u9053\u3067\u3059\u3002\u6c17\u306b\u306a\u308b\u3053\u3068\u306f\u9060\u616e\u306a\u304f\u3054\u76f8\u8ac7\u304f\u3060\u3055\u3044\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_%E3%82%A2%E3%83%9A%E3%83%BC%E3%83%AB%E7%97%87%E5%80%99%E7%BE%A4%E3%81%A8%E3%81%AF%E3%81%A9%E3%82%93%E3%81%AA%E7%97%85%E6%B0%97%E3%81%A7%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span><strong>Q. \u30a2\u30da\u30fc\u30eb\u75c7\u5019\u7fa4\u3068\u306f\u3069\u3093\u306a\u75c5\u6c17\u3067\u3059\u304b\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>FGFR2\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308a\u3001\u982d\u84cb\u9aa8\u306e\u7e2b\u5408\u304c\u65e9\u671f\u306b\u7652\u5408\u3057\u3001\u982d\u84cb\u30fb\u9854\u8c8c\u306e\u5f62\u6210\u7570\u5e38\u3068\u624b\u8db3\u306e\u5408\u6307\u75c7\u304c\u73fe\u308c\u308b\u5148\u5929\u6027\u306e\u5e0c\u5c11\u75be\u60a3\u3067\u3059\u30021906\u5e74\u306b\u30d5\u30e9\u30f3\u30b9\u306e\u5c0f\u5150\u79d1\u533b\u30e6\u30fc\u30b8\u30f3\u30fb\u30a2\u30da\u30fc\u30eb\u304c\u521d\u3081\u3066\u5831\u544a\u3057\u3001\u51fa\u751f6\u4e075,000\u4eba\u304b\u308916\u4e07\u4eba\u306b1\u4eba\u7a0b\u5ea6\u306e\u983b\u5ea6\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u65e5\u672c\u3067\u306f\u6307\u5b9a\u96e3\u75c5182\u306b\u6307\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_%E5%8E%9F%E5%9B%A0%E3%81%AF%E4%BD%95%E3%81%A7%E3%81%99%E3%81%8B%EF%BC%9F%E4%B8%A1%E8%A6%AA%E3%81%8B%E3%82%89%E9%81%BA%E4%BC%9D%E3%81%99%E3%82%8B%E3%81%AE%E3%81%A7%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span><strong>Q. \u539f\u56e0\u306f\u4f55\u3067\u3059\u304b\uff1f\u4e21\u89aa\u304b\u3089\u907a\u4f1d\u3059\u308b\u306e\u3067\u3059\u304b\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u539f\u56e0\u306fFGFR2\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3067\u3001\u5168\u4f53\u306e98%\u4ee5\u4e0a\u304cSer252Trp\u307e\u305f\u306fPro253Arg\u3068\u3044\u30462\u7a2e\u985e\u306e\u5909\u7570\u3067\u3059\u3002\u5e38\u67d3\u8272\u4f53\u9855\u6027\u907a\u4f1d\u306e\u5f62\u5f0f\u3092\u3068\u308a\u307e\u3059\u304c\u300195%\u4ee5\u4e0a\u306f\u4e21\u89aa\u306b\u5909\u5316\u304c\u306a\u3044\u65b0\u751f\u7a81\u7136\u5909\u7570\uff08de novo\uff09\u3067\u767a\u75c7\u3057\u307e\u3059\u3002\u65b0\u751f\u7a81\u7136\u5909\u7570\u306f\u307b\u307c\u7236\u89aa\u7531\u6765\u3067\u3001\u7236\u89aa\u306e\u5e74\u9f62\u304c\u9ad8\u3044\u307b\u3069\u767a\u751f\u7387\u304c\u4e0a\u304c\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002\u598a\u5a20\u4e2d\u306e\u751f\u6d3b\u7fd2\u6163\u304c\u539f\u56e0\u306b\u306a\u308b\u3082\u306e\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_%E6%89%8B%E8%B6%B3%E3%81%AE%E5%90%88%E6%8C%87%E7%97%87%E3%81%AF%E3%81%A9%E3%81%AE%E7%A8%8B%E5%BA%A6%E9%87%8D%E3%81%84%E3%81%AE%E3%81%A7%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span><strong>Q. \u624b\u8db3\u306e\u5408\u6307\u75c7\u306f\u3069\u306e\u7a0b\u5ea6\u91cd\u3044\u306e\u3067\u3059\u304b\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u4eba\u5dee\u3057\u6307\u3001\u4e2d\u6307\u3001\u85ac\u6307\u3092\u4e2d\u5fc3\u306b\u9aa8\u30ec\u30d9\u30eb\u3067\u7652\u5408\u3059\u308b\u5bfe\u79f0\u7684\u306a\u8907\u96d1\u5408\u6307\u75c7\u304c\u4e3b\u75c7\u72b6\u3067\u3001\u3057\u3070\u3057\u3070\u300c\u30df\u30c8\u30f3\u72b6\u306e\u624b\u300d\u3068\u547c\u3070\u308c\u307e\u3059\u3002\u91cd\u3055\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308a\u3001\u539f\u56e0\u3068\u306a\u308b\u5909\u7570\u306e\u30bf\u30a4\u30d7\uff08Pro253Arg\u578b\u306f\u3084\u3084\u91cd\u304f\u306a\u308a\u3084\u3059\u3044\u50be\u5411\uff09\u306b\u3088\u3063\u3066\u3082\u5909\u308f\u308a\u307e\u3059\u30021\u6b73\u9803\u304b\u3089\u89aa\u6307\u30fb\u5c0f\u6307\u306e\u72ec\u7acb\u3092\u512a\u5148\u3057\u305f\u5206\u96e2\u624b\u8853\u3092\u884c\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_%E7%9F%A5%E7%9A%84%E7%99%BA%E9%81%94%E3%81%B8%E3%81%AE%E5%BD%B1%E9%9F%BF%E3%81%AF%E3%81%82%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span><strong>Q. \u77e5\u7684\u767a\u9054\u3078\u306e\u5f71\u97ff\u306f\u3042\u308a\u307e\u3059\u304b\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6b63\u5e38\u7bc4\u56f2\u5185\u3067\u767a\u9054\u3059\u308b\u304a\u5b50\u3055\u3093\u3082\u591a\u3044\u4e00\u65b9\u3001\u982d\u84cb\u5185\u5727\u4ea2\u9032\u304c\u9577\u304f\u7d9a\u3044\u305f\u308a\u6c34\u982d\u75c7\u3092\u5408\u4f75\u3057\u305f\u308a\u3057\u305f\u5834\u5408\u306b\u306f\u5f71\u97ff\u304c\u51fa\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u65e9\u671f\u306e\u982d\u84cb\u5f62\u6210\u8853\u3067\u5727\u529b\u3092\u4e0b\u3052\u308b\u3053\u3068\u304c\u3001\u767a\u9054\u9762\u306e\u30ea\u30b9\u30af\u3092\u6291\u3048\u308b\u3046\u3048\u3067\u3082\u91cd\u8996\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_%E6%B2%BB%E7%99%82%E3%81%AF%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E6%B5%81%E3%82%8C%E3%81%A7%E9%80%B2%E3%81%BF%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span><strong>Q. \u6cbb\u7642\u306f\u3069\u306e\u3088\u3046\u306a\u6d41\u308c\u3067\u9032\u307f\u307e\u3059\u304b\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u4e73\u5150\u671f\uff08\u751f\u5f8c6\u30f6\u6708\u301c1\u6b73\u9803\uff09\u306e\u982d\u84cb\u5f62\u6210\u8853\u30011\u6b73\u4ee5\u964d\u306e\u5408\u6307\u75c7\u5206\u96e2\u8853\u3001\u5b66\u7ae5\u671f\u304b\u3089\u601d\u6625\u671f\u306b\u304b\u3051\u3066\u306e\u4e2d\u9854\u9762\u79fb\u52d5\u8853\u3068\u3044\u3046\u6bb5\u968e\u3092\u8e0f\u307f\u307e\u3059\u3002\u4e26\u884c\u3057\u3066\u8074\u899a\u30fb\u8996\u899a\u306e\u30b1\u30a2\u3001\u6b6f\u79d1\u77ef\u6b63\u3001\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u3092\u884c\u3046\u9577\u671f\u7684\u306a\u591a\u8077\u7a2e\u30c1\u30fc\u30e0\u533b\u7642\u304c\u57fa\u672c\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_NIPT%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%EF%BC%9F\"><\/span><strong>Q. NIPT\u3067\u3053\u306e\u75c5\u6c17\u306f\u308f\u304b\u308a\u307e\u3059\u304b\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u4e00\u822c\u7684\u306aNIPT\u3067\u306f\u5206\u304b\u308a\u307e\u305b\u3093\u3002NIPT\u306f\u4e3b\u306b21\u30fb18\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/patau-syndrome\/\">13\u30c8\u30ea\u30bd\u30df\u30fc<\/a>\u306a\u3069\u7279\u5b9a\u306e\u67d3\u8272\u4f53\u3092\u5bfe\u8c61\u3068\u3059\u308b\u975e\u78ba\u5b9a\u7684\u691c\u67fb\u3067\u3001FGFR2\u306e\u3088\u3046\u306a\u5358\u4e00\u907a\u4f1d\u5b50\u304c\u95a2\u308f\u308b\u75c5\u6c17\u306f\u901a\u5e38\u306e\u691c\u67fb\u5bfe\u8c61\u306b\u542b\u307e\u308c\u306a\u3044\u305f\u3081\u3067\u3059\u3002\u5bb6\u65cf\u6b74\u304c\u3042\u308b\u306a\u3069\u6c17\u306b\u306a\u308b\u5834\u5408\u306f\u3001\u81ea\u5df1\u5224\u65ad\u3067\u62b1\u3048\u8fbc\u307e\u305a\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u5c02\u9580\u5bb6\u306b\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_%E5%8C%BB%E7%99%82%E8%B2%BB%E3%81%AE%E5%8A%A9%E6%88%90%E3%81%AF%E5%8F%97%E3%81%91%E3%82%89%E3%82%8C%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span><strong>Q. \u533b\u7642\u8cbb\u306e\u52a9\u6210\u306f\u53d7\u3051\u3089\u308c\u307e\u3059\u304b\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u30a2\u30da\u30fc\u30eb\u75c7\u5019\u7fa4\u306f\u539a\u751f\u52b4\u50cd\u7701\u306e\u6307\u5b9a\u96e3\u75c5182\u304a\u3088\u3073\u5c0f\u5150\u6162\u6027\u7279\u5b9a\u75be\u75c5\u306b\u6307\u5b9a\u3055\u308c\u3066\u304a\u308a\u3001\u751f\u6daf\u306b\u308f\u305f\u308b\u533b\u7642\u8cbb\u52a9\u6210\u306e\u5bfe\u8c61\u306b\u306a\u308a\u307e\u3059\u3002\u7533\u8acb\u7a93\u53e3\u306f\u81ea\u6cbb\u4f53\u306e\u62c5\u5f53\u90e8\u7f72\u3084\u6cbb\u7642\u4e2d\u306e\u533b\u7642\u6a5f\u95a2\u306e\u76f8\u8ac7\u7a93\u53e3\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\":\"\u30a2\u30da\u30fc\u30eb\u75c7\u5019\u7fa4\u3068\u306f\u3069\u3093\u306a\u75c5\u6c17\u3067\u3059\u304b\uff1f\",\"acceptedAnswer\":{\"@type\":\"Answer\",\"text\":\"FGFR2\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308a\u3001\u982d\u84cb\u9aa8\u306e\u7e2b\u5408\u304c\u65e9\u671f\u306b\u7652\u5408\u3057\u3001\u982d\u84cb\u30fb\u9854\u8c8c\u306e\u5f62\u6210\u7570\u5e38\u3068\u624b\u8db3\u306e\u5408\u6307\u75c7\u304c\u73fe\u308c\u308b\u5148\u5929\u6027\u306e\u5e0c\u5c11\u75be\u60a3\u3067\u3059\u30021906\u5e74\u306b\u30d5\u30e9\u30f3\u30b9\u306e\u5c0f\u5150\u79d1\u533b\u30e6\u30fc\u30b8\u30f3\u30fb\u30a2\u30da\u30fc\u30eb\u304c\u521d\u3081\u3066\u5831\u544a\u3057\u3001\u51fa\u751f6\u4e075,000\u4eba\u304b\u308916\u4e07\u4eba\u306b1\u4eba\u7a0b\u5ea6\u306e\u983b\u5ea6\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u65e5\u672c\u3067\u306f\u6307\u5b9a\u96e3\u75c5182\u306b\u6307\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\"}},\n    {\"@type\":\"Question\",\"name\":\"\u539f\u56e0\u306f\u4f55\u3067\u3059\u304b\uff1f\u4e21\u89aa\u304b\u3089\u907a\u4f1d\u3059\u308b\u306e\u3067\u3059\u304b\uff1f\",\"acceptedAnswer\":{\"@type\":\"Answer\",\"text\":\"\u539f\u56e0\u306fFGFR2\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3067\u3001\u5168\u4f53\u306e98%\u4ee5\u4e0a\u304cSer252Trp\u307e\u305f\u306fPro253Arg\u3068\u3044\u30462\u7a2e\u985e\u306e\u5909\u7570\u3067\u3059\u3002\u5e38\u67d3\u8272\u4f53\u9855\u6027\u907a\u4f1d\u306e\u5f62\u5f0f\u3092\u3068\u308a\u307e\u3059\u304c\u300195%\u4ee5\u4e0a\u306f\u4e21\u89aa\u306b\u5909\u5316\u304c\u306a\u3044\u65b0\u751f\u7a81\u7136\u5909\u7570\uff08de 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href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK541728\/\" target=\"_blank\" rel=\"noopener\">Wenger TL, Hing AV, Evans KN. Apert Syndrome\uff08GeneReviews, NCBI Bookshelf\uff09<\/a>\u3001<a href=\"https:\/\/medlineplus.gov\/genetics\/condition\/apert-syndrome\/\" target=\"_blank\" rel=\"noopener\">Apert syndrome\uff08MedlinePlus Genetics, \u7c73\u56fd\u56fd\u7acb\u533b\u5b66\u56f3\u66f8\u9928\uff09<\/a>\u3001<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/37582295\/\" target=\"_blank\" rel=\"noopener\">Genetic Subtypes of Apert Syndrome Are Associated With Differences in Airway Morphology\uff08PubMed\uff09<\/a>\u3001<a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4678\" target=\"_blank\" rel=\"noopener\">\u30a2\u30da\u30fc\u30eb\u75c7\u5019\u7fa4\uff08\u6307\u5b9a\u96e3\u75c5182\uff09\uff08\u96e3\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc\uff09<\/a>\u3001<a href=\"https:\/\/www.shouman.jp\/disease\/details\/11_15_038\/\" target=\"_blank\" rel=\"noopener\">\u30a2\u30da\u30fc\u30eb\uff08Apert\uff09\u75c7\u5019\u7fa4 \u6982\u8981\uff08\u5c0f\u5150\u6162\u6027\u7279\u5b9a\u75be\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc\uff09<\/a><\/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","protected":false},"excerpt":{"rendered":"\u30a2\u30da\u30fc\u30eb\u75c7\u5019\u7fa4\u306fFGFR2\u907a\u4f1d\u5b50\u5909\u7570\u306b\u3088\u308b\u6307\u5b9a\u96e3\u75c5182\u306e\u5e0c\u5c11\u75be\u60a3\u3067\u3059\u3002\u539f\u56e0\u30fb\u75c7\u72b6\u30fb\u5408\u6307\u75c7\u306e\u6cbb\u7642\u3001NIPT\u3067\u306e\u691c\u67fb\u53ef\u5426\u307e\u3067\u533b\u5e2b\u76e3\u4fee\u3067\u89e3\u8aac\u3057\u307e\u3059\u3002","protected":false},"author":122,"featured_media":121563,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[1392],"tags":[],"class_list":["post-122494","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\/122494","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=122494"}],"version-history":[{"count":4,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/122494\/revisions"}],"predecessor-version":[{"id":134399,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/122494\/revisions\/134399"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/121563"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=122494"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=122494"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=122494"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}