{"id":122792,"date":"2026-01-15T09:56:42","date_gmt":"2026-01-15T00:56:42","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=122792"},"modified":"2026-07-27T05:57:47","modified_gmt":"2026-07-26T20:57:47","slug":"cardiofaciocutaneous-syndrome-2-map2k1-guide","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/cardiofaciocutaneous-syndrome-2-map2k1-guide\/","title":{"rendered":"Cardiofaciocutaneous Syndrome 2"},"content":{"rendered":"\n<p><strong>CFC\u75c7\u5019\u7fa42\u578b\uff08Cardiofaciocutaneous Syndrome 2\u3001\u4ee5\u4e0bCFC2\uff09\u306f\u3001RAS\/MAPK\u30b7\u30b0\u30ca\u30eb\u7d4c\u8def\u3092\u62c5\u3046MAP2K1\uff08MEK1\uff09\u907a\u4f1d\u5b50\u306e\u6a5f\u80fd\u7372\u5f97\u578b\u5909\u7570\u306b\u3088\u3063\u3066\u8d77\u3053\u308b\u5e0c\u5c11\u75be\u60a3\u3067\u3059\u3002<\/strong>\u5fc3\u81d3\u30fb\u9854\u8c8c\u30fb\u76ae\u819a\u30fb\u795e\u7d4c\u767a\u9054\u306b\u5f71\u97ff\u304c\u53ca\u3073\u307e\u3059\u3002\u65e5\u672c\u3067\u306f\u300cCFC\u75c7\u5019\u7fa4\u300d\u3068\u3057\u3066\u6307\u5b9a\u96e3\u75c5103\u30fb\u5c0f\u5150\u6162\u6027\u7279\u5b9a\u75be\u75c5\u306e\u5bfe\u8c61\u306b\u306a\u3063\u3066\u304a\u308a\u3001\u533b\u7642\u8cbb\u52a9\u6210\u306e\u7533\u8acb\u3082\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u304a\u5b50\u3055\u3093\u306e\u907a\u4f1d\u5b50\u691c\u67fb\u7d50\u679c\u306b\u300cMAP2K1\u300d\u306e\u6587\u5b57\u3092\u898b\u3064\u3051\u3066\u3001\u4e0d\u5b89\u306a\u6c17\u6301\u3061\u3067\u691c\u7d22\u3057\u3066\u3044\u308b\u65b9\u3082\u591a\u3044\u306e\u3067\u306f\u306a\u3044\u3067\u3057\u3087\u3046\u304b\u3002\u3053\u306e\u8a18\u4e8b\u3067\u306f\u3001CFC2\u306e\u5206\u5b50\u75c5\u614b\u304b\u3089\u81e8\u5e8a\u7684\u7279\u5fb4\u3001\u4f3c\u305f\u75be\u60a3\u3068\u306e\u9055\u3044\u3001\u51fa\u751f\u524d\u691c\u67fb\u3067\u306e\u4f4d\u7f6e\u3065\u3051\u3001\u305d\u3057\u3066\u6cbb\u7642\u30fb\u7642\u80b2\u306e\u6700\u65b0\u52d5\u5411\u307e\u3067\u3092\u3001\u7d71\u62ec\u9662\u9577\u306e\u5ca1\u304c\u307e\u3068\u3081\u3066\u89e3\u8aac\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u3053\u306e\u8a18\u4e8b\u3067\u308f\u304b\u308b\u3053\u3068<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>MAP2K1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u304c\u306a\u305cCFC2\u306e\u75c7\u72b6\u3092\u5f15\u304d\u8d77\u3053\u3059\u306e\u304b<\/li>\n\n\n\n<li>\u5fc3\u81d3\u30fb\u9854\u8c8c\u30fb\u76ae\u819a\u30fb\u767a\u9054\u306b\u73fe\u308c\u308b\u5177\u4f53\u7684\u306a\u75c7\u72b6<\/li>\n\n\n\n<li>\u30cc\u30fc\u30ca\u30f3\u75c7\u5019\u7fa4\u3084\u30b3\u30b9\u30c6\u30ed\u75c7\u5019\u7fa4\u3068\u306e\u898b\u5206\u3051\u65b9<\/li>\n\n\n\n<li>NIPT\u306a\u3069\u51fa\u751f\u524d\u691c\u67fb\u3067\u308f\u304b\u308b\u3053\u3068\u30fb\u308f\u304b\u3089\u306a\u3044\u3053\u3068<\/li>\n\n\n\n<li>\u8a3a\u65ad\u5f8c\u306e\u6cbb\u7642\u30fb\u7642\u80b2\u306e\u9032\u3081\u65b9\u3068\u6700\u65b0\u7814\u7a76<\/li>\n<\/ul>\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; 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CFC\u75c7\u5019\u7fa42\u578b\uff08MAP2K1\u95a2\u9023\uff09\u3068\u306f<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cardiofaciocutaneous-syndrome-2-map2k1-guide\/#CFC%E7%97%87%E5%80%99%E7%BE%A4%E3%81%AE%E9%81%BA%E4%BC%9D%E5%AD%90%E5%9E%8B%E3%81%AB%E3%82%88%E3%82%8B%E5%88%86%E9%A1%9E\" >CFC\u75c7\u5019\u7fa4\u306e\u907a\u4f1d\u5b50\u578b\u306b\u3088\u308b\u5206\u985e<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cardiofaciocutaneous-syndrome-2-map2k1-guide\/#2_%E5%88%86%E5%AD%90%E9%81%BA%E4%BC%9D%E5%AD%A6%E7%9A%84%E8%83%8C%E6%99%AF%EF%BC%9AMAP2K1%E5%A4%89%E7%95%B0%E3%81%A8%E3%82%B7%E3%82%B0%E3%83%8A%E3%83%AB%E6%9A%B4%E8%B5%B0%E3%81%AE%E3%83%A1%E3%82%AB%E3%83%8B%E3%82%BA%E3%83%A0\" >2. \u5206\u5b50\u907a\u4f1d\u5b66\u7684\u80cc\u666f\uff1aMAP2K1\u5909\u7570\u3068\u30b7\u30b0\u30ca\u30eb\u66b4\u8d70\u306e\u30e1\u30ab\u30cb\u30ba\u30e0<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cardiofaciocutaneous-syndrome-2-map2k1-guide\/#MAP2K1%EF%BC%88MEK1%EF%BC%89%E3%81%AE%E5%BD%B9%E5%89%B2\" >MAP2K1\uff08MEK1\uff09\u306e\u5f79\u5272<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cardiofaciocutaneous-syndrome-2-map2k1-guide\/#%E6%A9%9F%E8%83%BD%E7%8D%B2%E5%BE%97%E5%9E%8B%E5%A4%89%E7%95%B0%EF%BC%88Gain-of-Function%EF%BC%89\" >\u6a5f\u80fd\u7372\u5f97\u578b\u5909\u7570\uff08Gain-of-Function\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cardiofaciocutaneous-syndrome-2-map2k1-guide\/#%E9%81%BA%E4%BC%9D%E5%BD%A2%E5%BC%8F%E3%81%A8%E5%A4%89%E7%95%B0%E3%81%AE%E7%89%B9%E6%80%A7\" >\u907a\u4f1d\u5f62\u5f0f\u3068\u5909\u7570\u306e\u7279\u6027<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cardiofaciocutaneous-syndrome-2-map2k1-guide\/#3_%E8%87%A8%E5%BA%8A%E7%9A%84%E7%89%B9%E5%BE%B4%EF%BC%9A%E5%A4%9A%E7%B3%BB%E7%B5%B1%E3%81%AB%E5%8F%8A%E3%81%B6%E7%97%87%E7%8A%B6\" >3. \u81e8\u5e8a\u7684\u7279\u5fb4\uff1a\u591a\u7cfb\u7d71\u306b\u53ca\u3076\u75c7\u72b6<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cardiofaciocutaneous-syndrome-2-map2k1-guide\/#%E5%BF%83%E8%A1%80%E7%AE%A1%E7%B3%BB%E3%81%AE%E7%95%B0%E5%B8%B8\" 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\u8a3a\u65ad\u306e\u30d7\u30ed\u30bb\u30b9\uff1a\u81e8\u5e8a\u6240\u898b\u304b\u3089\u907a\u4f1d\u5b50\u691c\u67fb\u3078<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cardiofaciocutaneous-syndrome-2-map2k1-guide\/#%E8%87%A8%E5%BA%8A%E8%A8%BA%E6%96%AD%E3%81%AE%E6%89%8B%E3%81%8C%E3%81%8B%E3%82%8A\" >\u81e8\u5e8a\u8a3a\u65ad\u306e\u624b\u304c\u304b\u308a<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-15\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cardiofaciocutaneous-syndrome-2-map2k1-guide\/#%E9%81%BA%E4%BC%9D%E5%AD%90%E3%83%91%E3%83%8D%E3%83%AB%E6%A4%9C%E6%9F%BB\" >\u907a\u4f1d\u5b50\u30d1\u30cd\u30eb\u691c\u67fb<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cardiofaciocutaneous-syndrome-2-map2k1-guide\/#%E5%87%BA%E7%94%9F%E5%89%8D%E6%A4%9C%E6%9F%BB%EF%BC%88NIPT%E3%81%AA%E3%81%A9%EF%BC%89%E3%81%A7%E3%81%AE%E4%BD%8D%E7%BD%AE%E3%81%A5%E3%81%91\" >\u51fa\u751f\u524d\u691c\u67fb\uff08NIPT\u306a\u3069\uff09\u3067\u306e\u4f4d\u7f6e\u3065\u3051<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cardiofaciocutaneous-syndrome-2-map2k1-guide\/#6_%E7%AE%A1%E7%90%86%E3%81%A8%E6%B2%BB%E7%99%82%E6%88%A6%E7%95%A5%EF%BC%9A%E5%A4%9A%E8%81%B7%E7%A8%AE%E3%81%AB%E3%82%88%E3%82%8B%E3%83%81%E3%83%BC%E3%83%A0%E5%8C%BB%E7%99%82\" >6. \u7ba1\u7406\u3068\u6cbb\u7642\u6226\u7565\uff1a\u591a\u8077\u7a2e\u306b\u3088\u308b\u30c1\u30fc\u30e0\u533b\u7642<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-18\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cardiofaciocutaneous-syndrome-2-map2k1-guide\/#%E5%BE%AA%E7%92%B0%E5%99%A8%E7%AE%A1%E7%90%86\" >\u5faa\u74b0\u5668\u7ba1\u7406<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-19\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cardiofaciocutaneous-syndrome-2-map2k1-guide\/#%E7%9A%AE%E8%86%9A%E7%A7%91%E7%9A%84%E7%AE%A1%E7%90%86\" >\u76ae\u819a\u79d1\u7684\u7ba1\u7406<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-20\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cardiofaciocutaneous-syndrome-2-map2k1-guide\/#%E7%A5%9E%E7%B5%8C%E7%99%BA%E9%81%94%E3%83%BB%E7%99%82%E8%82%B2%E6%94%AF%E6%8F%B4\" >\u795e\u7d4c\u767a\u9054\u30fb\u7642\u80b2\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-21\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cardiofaciocutaneous-syndrome-2-map2k1-guide\/#7_%E6%B2%BB%E7%99%82%E7%A0%94%E7%A9%B6%E3%81%AE%E6%9C%80%E5%89%8D%E7%B7%9A%EF%BC%9AMEK%E9%98%BB%E5%AE%B3%E8%96%AC%E3%81%A8%E3%81%84%E3%81%86%E9%81%B8%E6%8A%9E%E8%82%A2\" >7. \u6cbb\u7642\u7814\u7a76\u306e\u6700\u524d\u7dda\uff1aMEK\u963b\u5bb3\u85ac\u3068\u3044\u3046\u9078\u629e\u80a2<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-22\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cardiofaciocutaneous-syndrome-2-map2k1-guide\/#%E5%88%86%E5%AD%90%E6%A8%99%E7%9A%84%E7%99%82%E6%B3%95%E3%81%AE%E5%B1%95%E6%9C%9B\" >\u5206\u5b50\u6a19\u7684\u7642\u6cd5\u306e\u5c55\u671b<\/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\/cardiofaciocutaneous-syndrome-2-map2k1-guide\/#%E3%82%88%E3%81%8F%E3%81%82%E3%82%8B%E8%B3%AA%E5%95%8F%EF%BC%88FAQ%EF%BC%89\" >\u3088\u304f\u3042\u308b\u8cea\u554f\uff08FAQ\uff09<\/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\/cardiofaciocutaneous-syndrome-2-map2k1-guide\/#CFC%E7%97%87%E5%80%99%E7%BE%A42%E5%9E%8B%E3%81%A8CFC%E7%97%87%E5%80%99%E7%BE%A41%E5%9E%8B%E3%81%AF%E4%BD%95%E3%81%8C%E9%81%95%E3%81%84%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\" >CFC\u75c7\u5019\u7fa42\u578b\u3068CFC\u75c7\u5019\u7fa41\u578b\u306f\u4f55\u304c\u9055\u3044\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-25\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cardiofaciocutaneous-syndrome-2-map2k1-guide\/#MAP2K1%E3%81%AB%E5%A4%89%E7%95%B0%E3%81%8C%E8%A6%8B%E3%81%A4%E3%81%8B%E3%82%8C%E3%81%B0%E5%BF%85%E3%81%9ACFC%E7%97%87%E5%80%99%E7%BE%A4%E3%81%A8%E8%A8%BA%E6%96%AD%E3%81%95%E3%82%8C%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\" >MAP2K1\u306b\u5909\u7570\u304c\u898b\u3064\u304b\u308c\u3070\u5fc5\u305aCFC\u75c7\u5019\u7fa4\u3068\u8a3a\u65ad\u3055\u308c\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-26\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cardiofaciocutaneous-syndrome-2-map2k1-guide\/#%E5%87%BA%E7%94%9F%E5%89%8D%E6%A4%9C%E6%9F%BB%EF%BC%88NIPT%EF%BC%89%E3%81%A7CFC%E7%97%87%E5%80%99%E7%BE%A4%E3%81%AF%E3%82%8F%E3%81%8B%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\" >\u51fa\u751f\u524d\u691c\u67fb\uff08NIPT\uff09\u3067CFC\u75c7\u5019\u7fa4\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-27\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cardiofaciocutaneous-syndrome-2-map2k1-guide\/#CFC%E7%97%87%E5%80%99%E7%BE%A42%E5%9E%8B%E3%81%AF%E9%81%BA%E4%BC%9D%E3%81%97%E3%81%BE%E3%81%99%E3%81%8B%E3%80%81%E3%81%9D%E3%82%8C%E3%81%A8%E3%82%82%E7%AA%81%E7%84%B6%E5%A4%89%E7%95%B0%E3%81%A7%E3%81%99%E3%81%8B%EF%BC%9F\" >CFC\u75c7\u5019\u7fa42\u578b\u306f\u907a\u4f1d\u3057\u307e\u3059\u304b\u3001\u305d\u308c\u3068\u3082\u7a81\u7136\u5909\u7570\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\/cardiofaciocutaneous-syndrome-2-map2k1-guide\/#%E5%8C%BB%E7%99%82%E8%B2%BB%E5%8A%A9%E6%88%90%E3%81%AE%E5%AF%BE%E8%B1%A1%E3%81%AB%E3%81%AA%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\" >\u533b\u7642\u8cbb\u52a9\u6210\u306e\u5bfe\u8c61\u306b\u306a\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-29\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cardiofaciocutaneous-syndrome-2-map2k1-guide\/#%E5%AD%90%E3%81%A9%E3%82%82%E3%81%AE%E7%99%BA%E9%81%94%E6%94%AF%E6%8F%B4%E3%81%AF%E4%BD%95%E3%81%8B%E3%82%89%E5%A7%8B%E3%82%81%E3%82%8C%E3%81%B0%E3%81%84%E3%81%84%E3%81%A7%E3%81%99%E3%81%8B%EF%BC%9F\" >\u5b50\u3069\u3082\u306e\u767a\u9054\u652f\u63f4\u306f\u4f55\u304b\u3089\u59cb\u3081\u308c\u3070\u3044\u3044\u3067\u3059\u304b\uff1f<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-30\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cardiofaciocutaneous-syndrome-2-map2k1-guide\/#%E7%B5%90%E8%AB%96%EF%BC%9A%E7%90%86%E8%A7%A3%E3%81%AE%E6%B7%B1%E5%8C%96%E3%81%8C%E6%82%A3%E8%80%85%E3%81%AE%E6%9C%AA%E6%9D%A5%E3%82%92%E6%94%AF%E3%81%88%E3%82%8B\" >\u7d50\u8ad6\uff1a\u7406\u89e3\u306e\u6df1\u5316\u304c\u60a3\u8005\u306e\u672a\u6765\u3092\u652f\u3048\u308b<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-31\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cardiofaciocutaneous-syndrome-2-map2k1-guide\/#%E7%9B%A3%E4%BF%AE%E8%80%85%E6%83%85%E5%A0%B1\" >\u76e3\u4fee\u8005\u60c5\u5831<\/a><\/li><\/ul><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_CFC%E7%97%87%E5%80%99%E7%BE%A42%E5%9E%8B%EF%BC%88MAP2K1%E9%96%A2%E9%80%A3%EF%BC%89%E3%81%A8%E3%81%AF\"><\/span><strong>1. CFC\u75c7\u5019\u7fa42\u578b\uff08MAP2K1\u95a2\u9023\uff09\u3068\u306f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>CFC2\u306f\u3001RAS\/MAPK\u7d4c\u8def\u306e\u7570\u5e38\u3067\u8d77\u3053\u308b\u4e00\u7fa4\u306e\u75be\u60a3\u300cRASopathy\uff08\u30e9\u30b9\u30d1\u30b7\u30fc\uff09\u300d\u306b\u542b\u307e\u308c\u307e\u3059\u3002\u539f\u56e0\u907a\u4f1d\u5b50\u306b\u3088\u3063\u3066\u8907\u6570\u306e\u578b\u306b\u5206\u304b\u308c\u308bCFC\u75c7\u5019\u7fa4\u306e\u3046\u3061\u3001MAP2K1\u907a\u4f1d\u5b50\u5909\u7570\u304c\u539f\u56e0\u306e\u30bf\u30a4\u30d7\u3092\u6307\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u533b\u5b66\u304c\u30b2\u30ce\u30e0\u89e3\u6790\u306e\u6642\u4ee3\u3078\u3068\u7a81\u5165\u3057\u305f\u3053\u3068\u3067\u3001\u79c1\u305f\u3061\u306f\u75be\u60a3\u3092\u5358\u306a\u308b\u300c\u75c7\u72b6\u306e\u96c6\u307e\u308a\u300d\u3068\u3057\u3066\u3067\u306f\u306a\u304f\u3001\u300c\u5206\u5b50\u30ec\u30d9\u30eb\u306e\u7570\u5e38\u300d\u3068\u3057\u3066\u7406\u89e3\u3067\u304d\u308b\u3088\u3046\u306b\u306a\u308a\u307e\u3057\u305f\u3002\u305d\u306e\u6700\u524d\u7dda\u306b\u3042\u308b\u306e\u304c\u3001\u7d30\u80de\u306e\u5897\u6b96\u30fb\u5206\u5316\u3092\u5236\u5fa1\u3059\u308bRAS\/MAPK\u30b7\u30b0\u30ca\u30eb\u4f1d\u9054\u7d4c\u8def\u306e\u7570\u5e38\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308bRASopathy\u3067\u3059\u3002<\/p>\n\n\n\n<p>CFC\u75c7\u5019\u7fa4\u5168\u4f53\u306e\u63a8\u5b9a\u60a3\u8005\u6570\u306f\u4e16\u754c\u3067200\u301c300\u4eba\u7a0b\u5ea6\u3068\u3055\u308c\u308b\u975e\u5e38\u306b\u307e\u308c\u306a\u75be\u60a3\u3067\u3059\u3002\u56fd\u5185\u3067\u306f\u6307\u5b9a\u96e3\u75c5103\u300cCFC\u75c7\u5019\u7fa4\u300d\u304a\u3088\u3073\u5c0f\u5150\u6162\u6027\u7279\u5b9a\u75be\u75c5\u3068\u3057\u3066\u3001\u539f\u56e0\u907a\u4f1d\u5b50\u306e\u7a2e\u985e\u306b\u304b\u304b\u308f\u3089\u305a\u533b\u7642\u8cbb\u52a9\u6210\u306e\u5bfe\u8c61\u306b\u306a\u3063\u3066\u3044\u307e\u3059\u3002\u5e0c\u5c11\u75be\u60a3\u3067\u3042\u3063\u3066\u3082\u3001\u516c\u7684\u306a\u652f\u63f4\u306e\u9078\u629e\u80a2\u306f\u8907\u6570\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"CFC%E7%97%87%E5%80%99%E7%BE%A4%E3%81%AE%E9%81%BA%E4%BC%9D%E5%AD%90%E5%9E%8B%E3%81%AB%E3%82%88%E3%82%8B%E5%88%86%E9%A1%9E\"><\/span><strong>CFC\u75c7\u5019\u7fa4\u306e\u907a\u4f1d\u5b50\u578b\u306b\u3088\u308b\u5206\u985e<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>CFC\u75c7\u5019\u7fa4\u306f\u539f\u56e0\u907a\u4f1d\u5b50\u3054\u3068\u306b\u547c\u3073\u65b9\u304c\u5206\u304b\u308c\u3066\u304a\u308a\u3001\u305d\u308c\u305e\u308c\u5225\u8a18\u4e8b\u3067\u8a73\u7d30\u3092\u89e3\u8aac\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<figure class=\"wp-block-table\"><table class=\"wp-block-table\"><thead><tr><th>\u5206\u985e<\/th><th>\u539f\u56e0\u907a\u4f1d\u5b50<\/th><th>\u5831\u544a\u983b\u5ea6\u306e\u76ee\u5b89<\/th><\/tr><\/thead><tbody>\n<tr><td>CFC1<\/td><td>BRAF<\/td><td>CFC\u75c7\u5019\u7fa4\u5168\u4f53\u306e\u7d0475%<\/td><\/tr>\n<tr><td><strong>CFC2\uff08\u672c\u8a18\u4e8b\uff09<\/strong><\/td><td><strong>MAP2K1\uff08MEK1\uff09<\/strong><\/td><td>\u7d0410\u301c15%<\/td><\/tr>\n<tr><td>CFC3<\/td><td>KRAS<\/td><td>\u5c11\u6570\u4f8b\u306e\u5831\u544a<\/td><\/tr>\n<tr><td>CFC4<\/td><td>MAP2K2\uff08MEK2\uff09<\/td><td>\u5c11\u6570\u4f8b\u306e\u5831\u544a<\/td><\/tr>\n<\/tbody><\/table><\/figure>\n\n\n\n<p>\u5404\u578b\u306e\u8a73\u7d30\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cardiofaciocutaneous-syndrome-cfc-rasopathy-guide\/\">CFC\u75c7\u5019\u7fa4\u306e\u7dcf\u8ad6\u8a18\u4e8b<\/a>\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cardiofaciocutaneous-syndrome-3-map2k1-genetics\/\">CFC3\uff08KRAS\uff09\u306e\u89e3\u8aac<\/a>\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cardiofaciocutaneous-syndrome-4-map2k2-genetic-insights\/\">CFC4\uff08MAP2K2\uff09\u306e\u89e3\u8aac<\/a>\u3082\u3042\u308f\u305b\u3066\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E5%88%86%E5%AD%90%E9%81%BA%E4%BC%9D%E5%AD%A6%E7%9A%84%E8%83%8C%E6%99%AF%EF%BC%9AMAP2K1%E5%A4%89%E7%95%B0%E3%81%A8%E3%82%B7%E3%82%B0%E3%83%8A%E3%83%AB%E6%9A%B4%E8%B5%B0%E3%81%AE%E3%83%A1%E3%82%AB%E3%83%8B%E3%82%BA%E3%83%A0\"><\/span><strong>2. \u5206\u5b50\u907a\u4f1d\u5b66\u7684\u80cc\u666f\uff1aMAP2K1\u5909\u7570\u3068\u30b7\u30b0\u30ca\u30eb\u66b4\u8d70\u306e\u30e1\u30ab\u30cb\u30ba\u30e0<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>CFC2\u306e\u75c7\u72b6\u306f\u3001MAP2K1\u3068\u3044\u3046\u9175\u7d20\u306e\u30b9\u30a4\u30c3\u30c1\u304c\u5165\u308a\u3063\u3071\u306a\u3057\u306b\u306a\u308b\u3053\u3068\u3067\u3001\u7d30\u80de\u306e\u5897\u6b96\u30fb\u5206\u5316\u30b7\u30b0\u30ca\u30eb\u304c\u904e\u5270\u306b\u6d41\u308c\u7d9a\u3051\u308b\u3053\u3068\u306b\u8d77\u56e0\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"MAP2K1%EF%BC%88MEK1%EF%BC%89%E3%81%AE%E5%BD%B9%E5%89%B2\"><\/span><strong>MAP2K1\uff08MEK1\uff09\u306e\u5f79\u5272<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>MAP2K1\u306f\u3001\u7d30\u80de\u5916\u304b\u3089\u306e\u523a\u6fc0\u3092\u6838\u3078\u3068\u4f1d\u3048\u308b\u300c\u30ea\u30ec\u30fc\u300d\u306e\u5f79\u5272\u3092\u679c\u305f\u3059RAS\/MAPK\u7d4c\u8def\u306e\u4e2d\u6838\u3092\u62c5\u3046\u9175\u7d20\uff08\u30ad\u30ca\u30fc\u30bc\uff09\u3067\u3059\u3002\u901a\u5e38\u3001\u3053\u306e\u30ea\u30ec\u30fc\u306f\u7dfb\u5bc6\u306b\u5236\u5fa1\u3055\u308c\u3066\u304a\u308a\u3001\u5fc5\u8981\u306a\u3068\u304d\u306b\u3060\u3051\u30aa\u30f3\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%A9%9F%E8%83%BD%E7%8D%B2%E5%BE%97%E5%9E%8B%E5%A4%89%E7%95%B0%EF%BC%88Gain-of-Function%EF%BC%89\"><\/span><strong>\u6a5f\u80fd\u7372\u5f97\u578b\u5909\u7570\uff08Gain-of-Function\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>CFC2\u3092\u5f15\u304d\u8d77\u3053\u3059MAP2K1\u306e\u5909\u7570\u306f\u3001\u3059\u3079\u3066\u6a5f\u80fd\u7372\u5f97\u578b\u3067\u3059\u3002\u672c\u6765\u306f\u30aa\u30d5\u3067\u3042\u308b\u3079\u304d\u3068\u304d\u3067\u3082\u30b9\u30a4\u30c3\u30c1\u304c\u5165\u3063\u305f\u72b6\u614b\u3001\u3042\u308b\u3044\u306f\u904e\u5270\u306b\u53cd\u5fdc\u3057\u3084\u3059\u3044\u72b6\u614b\u306b\u306a\u3063\u3066\u3044\u307e\u3059\u3002\u30b7\u30b0\u30ca\u30eb\u306e\u66b4\u8d70\u304c\u80ce\u5150\u671f\u306e\u81d3\u5668\u5f62\u6210\u3092\u59a8\u3052\u3001\u51fa\u751f\u5f8c\u306e\u6210\u9577\u3084\u795e\u7d4c\u56de\u8def\u306e\u69cb\u7bc9\u306b\u5f71\u97ff\u3092\u53ca\u307c\u3057\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%BD%A2%E5%BC%8F%E3%81%A8%E5%A4%89%E7%95%B0%E3%81%AE%E7%89%B9%E6%80%A7\"><\/span><strong>\u907a\u4f1d\u5f62\u5f0f\u3068\u5909\u7570\u306e\u7279\u6027<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>CFC2\u306f\u5e38\u67d3\u8272\u4f53\u9855\u6027\u907a\u4f1d\u5f62\u5f0f\u3092\u3068\u308a\u307e\u3059\u304c\u3001\u3053\u308c\u307e\u3067\u306b\u5831\u544a\u3055\u308c\u305f\u307b\u3068\u3093\u3069\u306e\u4f8b\u306f\u4e21\u89aa\u304b\u3089\u306e\u907a\u4f1d\u3067\u306f\u306a\u304f\u3001\u53d7\u7cbe\u5375\u306e\u6bb5\u968e\u3067\u65b0\u305f\u306b\u751f\u3058\u308bde novo\u5909\u7570\u3067\u3059\u3002\u65e5\u3005\u306e\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u4e2d\u3067\u79c1\u304c\u53d7\u3051\u308b\u8cea\u554f\u306e\u3046\u3061\u7279\u306b\u591a\u3044\u306e\u304c\u300c\u81ea\u5206\u305f\u3061\u306e\u305b\u3044\u306a\u306e\u304b\u300d\u3068\u3044\u3046\u4e0d\u5b89\u3067\u3059\u3002CFC2\u306e\u5927\u591a\u6570\u306fde novo\u3067\u3042\u308a\u3001\u4e21\u89aa\u306e\u751f\u6d3b\u7fd2\u6163\u3084\u884c\u52d5\u306b\u539f\u56e0\u3092\u6c42\u3081\u3089\u308c\u308b\u3082\u306e\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E8%87%A8%E5%BA%8A%E7%9A%84%E7%89%B9%E5%BE%B4%EF%BC%9A%E5%A4%9A%E7%B3%BB%E7%B5%B1%E3%81%AB%E5%8F%8A%E3%81%B6%E7%97%87%E7%8A%B6\"><\/span><strong>3. \u81e8\u5e8a\u7684\u7279\u5fb4\uff1a\u591a\u7cfb\u7d71\u306b\u53ca\u3076\u75c7\u72b6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>CFC2\u306e\u75c7\u72b6\u306f\u300c\u5fc3\u81d3\uff08Cardio\uff09\u300d\u300c\u9854\u8c8c\uff08Facio\uff09\u300d\u300c\u76ae\u819a\uff08Cutaneous\uff09\u300d\u306e3\u9818\u57df\u306b\u52a0\u3048\u3001\u91cd\u5ea6\u306e\u767a\u9054\u9045\u6ede\u304c\u307b\u307c\u5168\u4f8b\u3067\u307f\u3089\u308c\u308b\u306e\u304c\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%BF%83%E8%A1%80%E7%AE%A1%E7%B3%BB%E3%81%AE%E7%95%B0%E5%B8%B8\"><\/span><strong>\u5fc3\u8840\u7ba1\u7cfb\u306e\u7570\u5e38<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u7d0475%\u4ee5\u4e0a\u306e\u75c7\u4f8b\u3067\u5148\u5929\u7684\u306a\u5fc3\u75be\u60a3\u304c\u8a8d\u3081\u3089\u308c\u307e\u3059\u3002\u7279\u306b\u80a5\u5927\u578b\u5fc3\u7b4b\u75c7\u306f\u4e73\u5150\u671f\u304b\u3089\u306e\u7d4c\u904e\u89b3\u5bdf\u304c\u6b20\u304b\u305b\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u80ba\u52d5\u8108\u5f01\u72ed\u7a84\uff08PS\uff09\uff1a<\/strong>\u6700\u3082\u983b\u5ea6\u304c\u9ad8\u3044\u5408\u4f75\u75c7\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u80a5\u5927\u578b\u5fc3\u7b4b\u75c7\uff08HCM\uff09\uff1a<\/strong>\u4e73\u5150\u671f\u304b\u3089\u9032\u884c\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u5fc3\u4e0d\u5168\u3084\u4e0d\u6574\u8108\u306e\u30ea\u30b9\u30af\u3092\u4f34\u3046\u305f\u3081\u3001\u5b9a\u671f\u7684\u306a\u5fc3\u30a8\u30b3\u30fc\u7ba1\u7406\u3092\u8981\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u4e2d\u9694\u6b20\u640d\uff1a\u5fc3\u623f\u4e2d\u9694\u6b20\u640d\uff08ASD\uff09\u3084\u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d\uff08VSD\uff09\u304c\u307f\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%89%B9%E5%BE%B4%E7%9A%84%E3%81%AA%E9%A1%94%E8%B2%8C\"><\/span><strong>\u7279\u5fb4\u7684\u306a\u9854\u8c8c<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>RASopathy\u306b\u5171\u901a\u3059\u308b\u9854\u7acb\u3061\u3092\u5448\u3057\u307e\u3059\u304c\u3001CFC\u75c7\u5019\u7fa4\u3067\u306f\u300c\u7c97\uff08Coarse\uff09\u300d\u3068\u8868\u73fe\u3055\u308c\u308b\u5f37\u3044\u7279\u5fb4\u304c\u3042\u3089\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u9ad8\u304f\u3066\u5e83\u3044\u984d\uff1a<\/strong>\u524d\u982d\u90e8\u306e\u7a81\u51fa\u304c\u76ee\u7acb\u3061\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u773c\u77bc\u88c2\u659c\u4e0b\u3068\u773c\u77bc\u4e0b\u5782\uff1a<\/strong>\u76ee\u5c3b\u304c\u4e0b\u304c\u308a\u3001\u307e\u3076\u305f\u304c\u91cd\u3044\u5370\u8c61\u3092\u4e0e\u3048\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u4f4e\u3044\u9f3b\u6881\uff1a\u9f3b\u306e\u4ed8\u3051\u6839\u304c\u5e73\u5766\u3067\u3001\u9f3b\u5b54\u304c\u524d\u3092\u5411\u3044\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8033\u306e\u4f4e\u4f4d\u4ed8\u7740\u3068\u5f8c\u65b9\u56de\u65cb\uff1a\u8033\u304c\u901a\u5e38\u3088\u308a\u4f4e\u3044\u4f4d\u7f6e\u306b\u3042\u308a\u3001\u5f8c\u308d\u5074\u306b\u50be\u3044\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u6b21\u306b\u76ae\u819a\u75c7\u72b6\u3092\u898b\u3066\u3044\u304d\u307e\u3059\u3002\u5b9f\u306f\u3053\u306e\u76ae\u819a\u6240\u898b\u3053\u305d\u304c\u3001\u4ed6\u306eRASopathy\u3068\u306e\u9451\u5225\u3067\u6700\u3082\u91cd\u8996\u3055\u308c\u308b\u30dd\u30a4\u30f3\u30c8\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%9A%AE%E8%86%9A%E3%83%BB%E8%A2%AB%E6%AF%9B%E3%81%AE%E7%95%B0%E5%B8%B8\"><\/span><strong>\u76ae\u819a\u30fb\u88ab\u6bdb\u306e\u7570\u5e38<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u76ae\u819a\u30fb\u6bdb\u9aea\u306e\u6240\u898b\u306f\u3001CFC2\u3092\u4ed6\u306e\u985e\u4f3c\u75be\u60a3\u304b\u3089\u533a\u5225\u3059\u308b\u6700\u5927\u306e\u81e8\u5e8a\u7684\u6307\u6a19\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u89d2\u5316\u7570\u5e38\u75c7\uff1a<\/strong>\u9b5a\u9c57\u766c\u69d8\u306e\u76ae\u819a\u306e\u4e7e\u71e5\u3001\u6bdb\u5b54\u6027\u89d2\u5316\u75c7\u304c\u5168\u8eab\u306b\u307f\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5e0c\u8584\u3067\u7e2e\u308c\u305f\u6bdb\u9aea\uff1a<\/strong>\u9aea\u306e\u6bdb\u304c\u975e\u5e38\u306b\u7d30\u304f\u7e2e\u308c\u3066\u304a\u308a\u3001\u6210\u9577\u304c\u9045\u3044\u306e\u304c\u7279\u5fb4\u3067\u3059\u3002\u7709\u6bdb\u3084\u307e\u3064\u6bdb\u304c\u8584\u3044\u3001\u3042\u308b\u3044\u306f\u6d88\u5931\u3057\u3066\u3044\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6e7f\u75b9\u30fb\u8840\u7ba1\u816b\uff1a<\/strong>\u9811\u56fa\u306a\u6e7f\u75b9\u3084\u3001\u5c0f\u3055\u306a\u8d64\u3044\u8840\u7ba1\u816b\u304c\u591a\u767a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%A5%9E%E7%B5%8C%E7%99%BA%E9%81%94%E3%81%A8%E9%9A%8F%E4%BC%B4%E7%97%87%E7%8A%B6\"><\/span><strong>\u795e\u7d4c\u767a\u9054\u3068\u968f\u4f34\u75c7\u72b6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3084\u904b\u52d5\u767a\u9054\u306e\u9045\u308c\u306f\u3001CFC2\u306e\u65e5\u5e38\u751f\u6d3b\u3078\u306e\u5f71\u97ff\u304c\u6700\u3082\u5927\u304d\u3044\u90e8\u5206\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5168\u822c\u7684\u306a\u767a\u9054\u9045\u6ede\uff1a<\/strong><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u306f\u4e2d\u7b49\u5ea6\u304b\u3089\u91cd\u5ea6\u3067\u3042\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u8a00\u8a9e\u7372\u5f97\u3084\u904b\u52d5\u767a\u9054\u306b\u9045\u308c\u304c\u751f\u3058\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff1a<\/strong>\u4f53\u5e79\u304c\u67d4\u3089\u304b\u304f\u3001\u9996\u3059\u308f\u308a\u3084\u6b69\u884c\u306a\u3069\u904b\u52d5\u767a\u9054\u306e\u6307\u6a19\u9054\u6210\u304c\u9045\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u3066\u3093\u304b\u3093\uff1a<\/strong>\u96e3\u6cbb\u6027\u306e\u3066\u3093\u304b\u3093\u3092\u4f34\u3046\u30b1\u30fc\u30b9\u304c\u3042\u308a\u3001\u5b9a\u671f\u7684\u306a\u8133\u6ce2\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6442\u98df\u969c\u5bb3\uff1a<\/strong>\u4e73\u5150\u671f\u306e\u5438\u555c\u4e0d\u5168\u3001\u5614\u5410\u3001\u80c3\u98df\u9053\u9006\u6d41\u75c7\u304c\u307f\u3089\u308c\u3001\u7d4c\u7ba1\u6804\u990a\u3084\u80c3\u763b\u306e\u691c\u8a0e\u304c\u5fc5\u8981\u306b\u306a\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\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=\"4_%E3%83%8C%E3%83%BC%E3%83%8A%E3%83%B3%E7%97%87%E5%80%99%E7%BE%A4%E3%83%BB%E3%82%B3%E3%82%B9%E3%83%86%E3%83%AD%E7%97%87%E5%80%99%E7%BE%A4%E3%81%A8%E3%81%AE%E9%81%95%E3%81%84\"><\/span><strong>4. \u30cc\u30fc\u30ca\u30f3\u75c7\u5019\u7fa4\u30fb\u30b3\u30b9\u30c6\u30ed\u75c7\u5019\u7fa4\u3068\u306e\u9055\u3044<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>CFC2\u30fb\u30b3\u30b9\u30c6\u30ed\u75c7\u5019\u7fa4\u30fb\u30cc\u30fc\u30ca\u30f3\u75c7\u5019\u7fa4\u306f\u540c\u3058RASopathy\u306e\u30b0\u30eb\u30fc\u30d7\u306b\u5c5e\u3057\u3001\u5916\u898b\u3060\u3051\u3067\u306e\u898b\u5206\u3051\u306f\u56f0\u96e3\u3067\u3059\u3002\u539f\u56e0\u907a\u4f1d\u5b50\u3068\u76ae\u819a\u75c7\u72b6\u306e\u91cd\u3055\u304c\u9451\u5225\u306e\u624b\u304c\u304b\u308a\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u79c1\u305f\u3061\u306e\u30af\u30ea\u30cb\u30c3\u30af\u3067\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3092\u62c5\u5f53\u3057\u3066\u3044\u308b\u3068\u3001\u300cMAP2K1\u3068\u8a3a\u65ad\u3055\u308c\u305f\u304c\u3001\u30cc\u30fc\u30ca\u30f3\u75c7\u5019\u7fa4\u3068\u306f\u4f55\u304c\u9055\u3046\u306e\u304b\u300d\u3068\u3044\u3046\u8cea\u554f\u3092\u983b\u7e41\u306b\u3044\u305f\u3060\u304d\u307e\u3059\u30023\u75be\u60a3\u306f\u8868\u73fe\u578b\u304c\u91cd\u306a\u308b\u305f\u3081\u3001\u5916\u898b\u306e\u307f\u3067\u306e\u78ba\u5b9a\u8a3a\u65ad\u306f\u4e0d\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n<figure class=\"wp-block-table\"><table class=\"wp-block-table\"><thead><tr><th>\u75be\u60a3<\/th><th>\u4e3b\u306a\u539f\u56e0\u907a\u4f1d\u5b50<\/th><th>\u76ae\u819a\u75c7\u72b6<\/th><th>\u7279\u5fb4\u7684\u306a\u50be\u5411<\/th><\/tr><\/thead><tbody>\n<tr><td>CFC\u75c7\u5019\u7fa4\uff08CFC2\u542b\u3080\uff09<\/td><td>BRAF\/MAP2K1\/MAP2K2\/KRAS<\/td><td>\u89d2\u5316\u7570\u5e38\u30fb\u7e2e\u6bdb\u306a\u3069\u6700\u3082\u9855\u8457<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u304c\u4e2d\u7b49\u5ea6\u301c\u91cd\u5ea6\u306b\u306a\u308a\u3084\u3059\u3044<\/td><\/tr>\n<tr><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/costello-syndrome-guide\/\">\u30b3\u30b9\u30c6\u30ed\u75c7\u5019\u7fa4<\/a><\/td><td>HRAS<\/td><td>\u76ae\u819a\u306e\u305f\u308b\u307f\u30fb\u67d4\u3089\u304b\u3055<\/td><td>\u60aa\u6027\u816b\u760d\uff08\u6a2a\u7d0b\u7b4b\u8089\u816b\u7b49\uff09\u306e\u30ea\u30b9\u30af\u306b\u6ce8\u610f<\/td><\/tr>\n<tr><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/noonan-syndrome-type1-ptpn11-guide\/\">\u30cc\u30fc\u30ca\u30f3\u75c7\u5019\u7fa4<\/a><\/td><td>PTPN11\u306a\u3069\u591a\u6570<\/td><td>\u6bd4\u8f03\u7684\u8efd\u5ea6<\/td><td>\u75c7\u72b6\u306e\u5e45\u304c\u5e83\u304f\u6210\u4eba\u307e\u3067\u6c17\u3065\u304b\u308c\u306a\u3044\u4f8b\u3082\u3042\u308b<\/td><\/tr>\n<\/tbody><\/table><\/figure>\n\n\n\n<p>\u3044\u305a\u308c\u3082\u6839\u672c\u539f\u56e0\u306fRAS\/MAPK\u7d4c\u8def\u306e\u7570\u5e38\u3068\u3044\u3046\u5171\u901a\u70b9\u304c\u3042\u308b\u305f\u3081\u3001\u78ba\u5b9a\u8a3a\u65ad\u306b\u306f\u6b21\u7ae0\u3067\u89e3\u8aac\u3059\u308b\u907a\u4f1d\u5b50\u691c\u67fb\u304c\u6b20\u304b\u305b\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"5_%E8%A8%BA%E6%96%AD%E3%81%AE%E3%83%97%E3%83%AD%E3%82%BB%E3%82%B9%EF%BC%9A%E8%87%A8%E5%BA%8A%E6%89%80%E8%A6%8B%E3%81%8B%E3%82%89%E9%81%BA%E4%BC%9D%E5%AD%90%E6%A4%9C%E6%9F%BB%E3%81%B8\"><\/span><strong>5. \u8a3a\u65ad\u306e\u30d7\u30ed\u30bb\u30b9\uff1a\u81e8\u5e8a\u6240\u898b\u304b\u3089\u907a\u4f1d\u5b50\u691c\u67fb\u3078<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>CFC2\u306e\u78ba\u5b9a\u8a3a\u65ad\u306b\u306f\u3001\u81e8\u5e8a\u75c7\u72b6\u306e\u8a55\u4fa1\u306b\u52a0\u3048\u3066\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\uff08NGS\uff09\u306b\u3088\u308b\u907a\u4f1d\u5b50\u691c\u67fb\u304c\u4e0d\u53ef\u6b20\u3067\u3059\u3002\u8a3a\u65ad\u78ba\u5b9a\u306e\u9375\u306f\u3001\u539f\u56e0\u907a\u4f1d\u5b50\u306e\u7279\u5b9a\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%87%A8%E5%BA%8A%E8%A8%BA%E6%96%AD%E3%81%AE%E6%89%8B%E3%81%8C%E3%81%8B%E3%82%8A\"><\/span><strong>\u81e8\u5e8a\u8a3a\u65ad\u306e\u624b\u304c\u304b\u308a<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u76ae\u819a\u75c7\u72b6\uff08\u7e2e\u6bdb\u30fb\u89d2\u5316\u7570\u5e38\uff09\u306e\u5b58\u5728\u3068\u3001\u91cd\u5ea6\u306e\u767a\u9054\u9045\u6ede\u3001\u305d\u3057\u3066\u80a5\u5927\u578b\u5fc3\u7b4b\u75c7\u306e\u7d44\u307f\u5408\u308f\u305b\u304c\u3001CFC\u75c7\u5019\u7fa4\u3092\u5f37\u304f\u793a\u5506\u3057\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%90%E3%83%91%E3%83%8D%E3%83%AB%E6%A4%9C%E6%9F%BB\"><\/span><strong>\u907a\u4f1d\u5b50\u30d1\u30cd\u30eb\u691c\u67fb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>RASopathy\u95a2\u9023\u30d1\u30cd\u30eb\u691c\u67fb\u3067\u306f\u3001BRAF\u30fbMAP2K1\u30fbMAP2K2\u30fbKRAS\u306a\u3069\u4e3b\u8981\u306a\u539f\u56e0\u907a\u4f1d\u5b50\u3092\u4e00\u5ea6\u306b\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3057\u307e\u3059\u3002\u907a\u4f1d\u5b50\u691c\u67fb\u3067MAP2K1\u306b\u75c5\u7684\u610f\u7fa9\u306e\u3042\u308b\u5909\u7570\u304c\u898b\u3064\u304b\u3063\u305f\u5834\u5408\u3001CFC2\u3068\u78ba\u5b9a\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"640\" height=\"426\" src=\"\/nipt\/wp-content\/uploads\/2026\/01\/33515978_s-1.webp\" alt=\"\u533b\u8005\" class=\"wp-image-121626\"\/><\/figure><\/div>\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%87%BA%E7%94%9F%E5%89%8D%E6%A4%9C%E6%9F%BB%EF%BC%88NIPT%E3%81%AA%E3%81%A9%EF%BC%89%E3%81%A7%E3%81%AE%E4%BD%8D%E7%BD%AE%E3%81%A5%E3%81%91\"><\/span><strong>\u51fa\u751f\u524d\u691c\u67fb\uff08NIPT\u306a\u3069\uff09\u3067\u306e\u4f4d\u7f6e\u3065\u3051<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6a19\u6e96\u7684\u306aNIPT\u306f13\u30fb18\u30fb21\u30c8\u30ea\u30bd\u30df\u30fc\u306a\u3069\u67d3\u8272\u4f53\u6570\u306e\u7570\u5e38\u3092\u5bfe\u8c61\u3068\u3057\u305f\u975e\u78ba\u5b9a\u7684\u306a\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u691c\u67fb\u3067\u3059\u3002MAP2K1\u306e\u3088\u3046\u306a\u5358\u4e00\u907a\u4f1d\u5b50\u306e\u70b9\u5909\u7570\u306f\u3001\u672c\u6765\u306e\u691c\u51fa\u5bfe\u8c61\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u8fd1\u5e74\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u30fb\u91cd\u8907\u3084\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u307e\u3067\u5bfe\u8c61\u3092\u5e83\u3052\u305f\u62e1\u5f35NIPT\u3082\u767b\u5834\u3057\u3066\u3044\u307e\u3059\u304c\u3001\u3053\u3046\u3057\u305f\u62e1\u5f35\u691c\u67fb\u3082\u3042\u304f\u307e\u3067\u975e\u78ba\u5b9a\u7684\u306a\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u306b\u3068\u3069\u307e\u308a\u307e\u3059\u3002CFC2\u306e\u3088\u3046\u306a\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u304c\u7591\u308f\u308c\u308b\u5834\u5408\u3001\u78ba\u5b9a\u306b\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chorionic-villus-test\/\">\u7d68\u6bdb\u691c\u67fb<\/a>\u306b\u3088\u308b\u907a\u4f1d\u5b50\u89e3\u6790\u304c\u5fc5\u8981\u3067\u3059\u3002\u51fa\u751f\u5f8c\u3067\u3042\u308c\u3070\u3001\u8840\u6db2\u3092\u7528\u3044\u305f\u907a\u4f1d\u5b50\u30d1\u30cd\u30eb\u691c\u67fb\u304c\u5fc5\u8981\u306b\u306a\u308b\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002\u691c\u67fb\u7d50\u679c\u306e\u89e3\u91c8\u306b\u306f\u3001\u81e8\u5e8a\u907a\u4f1d\u5c02\u9580\u533b\u306b\u3088\u308b\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3092\u3042\u308f\u305b\u3066\u3054\u691c\u8a0e\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"6_%E7%AE%A1%E7%90%86%E3%81%A8%E6%B2%BB%E7%99%82%E6%88%A6%E7%95%A5%EF%BC%9A%E5%A4%9A%E8%81%B7%E7%A8%AE%E3%81%AB%E3%82%88%E3%82%8B%E3%83%81%E3%83%BC%E3%83%A0%E5%8C%BB%E7%99%82\"><\/span><strong>6. \u7ba1\u7406\u3068\u6cbb\u7642\u6226\u7565\uff1a\u591a\u8077\u7a2e\u306b\u3088\u308b\u30c1\u30fc\u30e0\u533b\u7642<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>MAP2K1\u5909\u7570\u305d\u306e\u3082\u306e\u3092\u4fee\u6b63\u3059\u308b\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u73fe\u6642\u70b9\u3067\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u304c\u3001\u591a\u8077\u7a2e\u9023\u643a\u306b\u3088\u308b\u7d99\u7d9a\u7684\u306a\u4ecb\u5165\u304c\u4e88\u5f8c\u3092\u5de6\u53f3\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%BE%AA%E7%92%B0%E5%99%A8%E7%AE%A1%E7%90%86\"><\/span><strong>\u5faa\u74b0\u5668\u7ba1\u7406<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5b9a\u671f\u7684\u306a\u5fc3\u30a8\u30b3\u30fc\u691c\u67fb\u306f\u6b20\u304b\u305b\u307e\u305b\u3093\u3002\u80a5\u5927\u578b\u5fc3\u7b4b\u75c7\u304c\u8a8d\u3081\u3089\u308c\u308b\u5834\u5408\u306f\u3001\u03b2\u906e\u65ad\u85ac\u306a\u3069\u306b\u3088\u308b\u7ba1\u7406\u3084\u7a81\u7136\u6b7b\u3092\u9632\u3050\u305f\u3081\u306e\u53b3\u91cd\u306a\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0\u304c\u884c\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%9A%AE%E8%86%9A%E7%A7%91%E7%9A%84%E7%AE%A1%E7%90%86\"><\/span><strong>\u76ae\u819a\u79d1\u7684\u7ba1\u7406<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u89d2\u5316\u7570\u5e38\u306b\u306f\u4fdd\u6e7f\u5264\uff08\u30d8\u30d1\u30ea\u30f3\u985e\u4f3c\u7269\u8cea\u3084\u5c3f\u7d20\u8edf\u818f\uff09\u306e\u5857\u5e03\u3001\u6bdb\u5b54\u6027\u89d2\u5316\u75c7\u306b\u306f\u89d2\u8cea\u6eb6\u89e3\u5264\u306e\u4f7f\u7528\u3092\u691c\u8a0e\u3057\u3066\u304f\u3060\u3055\u3044\u3002\u76ae\u819a\u306e\u30d0\u30ea\u30a2\u6a5f\u80fd\u304c\u4f4e\u3044\u305f\u3081\u3001\u4e8c\u6b21\u611f\u67d3\u3078\u306e\u8b66\u6212\u3082\u6b20\u304b\u305b\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%A5%9E%E7%B5%8C%E7%99%BA%E9%81%94%E3%83%BB%E7%99%82%E8%82%B2%E6%94%AF%E6%8F%B4\"><\/span><strong>\u795e\u7d4c\u767a\u9054\u30fb\u7642\u80b2\u652f\u63f4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u65e9\u671f\u304b\u3089\u306e\u7406\u5b66\u7642\u6cd5\uff08PT\uff09\u3001\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09\u3001\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09\u306e\u4ecb\u5165\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002\u6442\u98df\u969c\u5bb3\u306b\u5bfe\u3057\u3066\u306f\u3001ST\u306b\u3088\u308b\u56a5\u4e0b\u6307\u5c0e\u3068\u6804\u990a\u58eb\u306b\u3088\u308b\u30ab\u30ed\u30ea\u30fc\u7ba1\u7406\u304c\u6210\u9577\u3092\u652f\u3048\u308b\u67f1\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8a3a\u65ad\u3092\u53d7\u3051\u305f\u3054\u5bb6\u65cf\u304c\u6700\u521d\u306b\u53d6\u308a\u7d44\u3080\u3079\u304d\u3053\u3068\u306f\u3001\u6b21\u306e3\u30b9\u30c6\u30c3\u30d7\u306b\u6574\u7406\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li>\u5c0f\u5150\u5faa\u74b0\u5668\u79d1\u3067\u5fc3\u30a8\u30b3\u30fc\u691c\u67fb\u3092\u53d7\u3051\u3001\u5fc3\u75be\u60a3\u306e\u6709\u7121\u3068\u30bf\u30a4\u30d7\u3092\u78ba\u8a8d\u3059\u308b\u3002<\/li>\n\n\n\n<li>\u81e8\u5e8a\u907a\u4f1d\u5c02\u9580\u533b\u306b\u3088\u308b\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3092\u4e88\u7d04\u3057\u3001\u907a\u4f1d\u5f62\u5f0f\u3084\u518d\u767a\u7387\u306e\u8aac\u660e\u3092\u53d7\u3051\u308b\u3002<\/li>\n\n\n\n<li>\u304a\u4f4f\u307e\u3044\u306e\u81ea\u6cbb\u4f53\u306e\u7642\u80b2\u30bb\u30f3\u30bf\u30fc\u306b\u9023\u7d61\u3057\u3001PT\u30fbOT\u30fbST\u306e\u65e9\u671f\u4ecb\u5165\u306b\u3064\u306a\u3052\u308b\u3002<\/li>\n<\/ol>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"7_%E6%B2%BB%E7%99%82%E7%A0%94%E7%A9%B6%E3%81%AE%E6%9C%80%E5%89%8D%E7%B7%9A%EF%BC%9AMEK%E9%98%BB%E5%AE%B3%E8%96%AC%E3%81%A8%E3%81%84%E3%81%86%E9%81%B8%E6%8A%9E%E8%82%A2\"><\/span><strong>7. \u6cbb\u7642\u7814\u7a76\u306e\u6700\u524d\u7dda\uff1aMEK\u963b\u5bb3\u85ac\u3068\u3044\u3046\u9078\u629e\u80a2<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>MAP2K1\uff08MEK1\uff09\u81ea\u4f53\u3092\u6a19\u7684\u3068\u3059\u308bMEK\u963b\u5bb3\u85ac\u306f\u3001\u540c\u3058RASopathy\u3067\u3042\u308b\u30cc\u30fc\u30ca\u30f3\u75c7\u5019\u7fa4\u306e\u91cd\u75c7\u5fc3\u7b4b\u75c7\u4f8b\u3067\u6cbb\u7642\u52b9\u679c\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002CFC2\u3078\u306e\u5fdc\u7528\u3082\u3001\u7814\u7a76\u6bb5\u968e\u3067\u671f\u5f85\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%88%86%E5%AD%90%E6%A8%99%E7%9A%84%E7%99%82%E6%B3%95%E3%81%AE%E5%B1%95%E6%9C%9B\"><\/span><strong>\u5206\u5b50\u6a19\u7684\u7642\u6cd5\u306e\u5c55\u671b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>MEK\u963b\u5bb3\u85ac\uff08\u30c8\u30e9\u30e1\u30c1\u30cb\u30d6\u306a\u3069\uff09\u306f\u3082\u3068\u3082\u3068\u304c\u3093\u6cbb\u7642\u9818\u57df\u3067\u5b9f\u7528\u5316\u3055\u308c\u3066\u3044\u308b\u85ac\u5264\u3067\u3059\u3002\u6d77\u5916\u3067\u306fRAF1\u3084SOS1\u306a\u3069\u306e\u5909\u7570\u306b\u3088\u308b\u91cd\u5ea6\u306e\u80a5\u5927\u578b\u5fc3\u7b4b\u75c7\u3092\u4f34\u3046\u30cc\u30fc\u30ca\u30f3\u75c7\u5019\u7fa4\u306e\u4e73\u5150\u4f8b\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002MEK\u963b\u5bb3\u85ac\u306e\u6295\u4e0e\u5f8c\u306b\u5fc3\u7b4b\u306e\u80a5\u539a\u304c\u6539\u5584\u3057\u305f\u3068\u3059\u308b\u75c7\u4f8b\u5831\u544a\u304c\u8907\u6570\u3067\u3059\u3002<\/p>\n\n\n\n<p>CFC2\u305d\u306e\u3082\u306e\u3092\u5bfe\u8c61\u3068\u3057\u305f\u5927\u898f\u6a21\u306a\u81e8\u5e8a\u8a66\u9a13\u306f\u3001\u307e\u3060\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002\u305f\u3060\u3057\u540c\u3058MAP2K1\/MAP2K2\u7d4c\u8def\u3092\u6a19\u7684\u3068\u3059\u308b\u6027\u8cea\u4e0a\u3001\u4eca\u5f8c\u306e\u7814\u7a76\u62e1\u5927\u304c\u898b\u8fbc\u307e\u308c\u308b\u5206\u91ce\u3067\u3059\u3002\u767a\u80b2\u671f\u306e\u5b50\u3069\u3082\u3078\u306e\u9577\u671f\u6295\u4e0e\u306e\u5b89\u5168\u6027\u306a\u3069\u3001\u514b\u670d\u3059\u3079\u304d\u8ab2\u984c\u306f\u6b8b\u308a\u307e\u3059\u3002\u6839\u672c\u6cbb\u7642\u306b\u5411\u3051\u305f\u9078\u629e\u80a2\u306e\u3072\u3068\u3064\u3068\u3057\u3066\u6ce8\u76ee\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=\"%E3%82%88%E3%81%8F%E3%81%82%E3%82%8B%E8%B3%AA%E5%95%8F%EF%BC%88FAQ%EF%BC%89\"><\/span><strong>\u3088\u304f\u3042\u308b\u8cea\u554f\uff08FAQ\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>CFC2\u306b\u3064\u3044\u3066\u3001\u8a3a\u5bdf\u3084\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u5834\u3067\u3088\u304f\u5bc4\u305b\u3089\u308c\u308b\u8cea\u554f\u3092\u307e\u3068\u3081\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"CFC%E7%97%87%E5%80%99%E7%BE%A42%E5%9E%8B%E3%81%A8CFC%E7%97%87%E5%80%99%E7%BE%A41%E5%9E%8B%E3%81%AF%E4%BD%95%E3%81%8C%E9%81%95%E3%81%84%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span>CFC\u75c7\u5019\u7fa42\u578b\u3068CFC\u75c7\u5019\u7fa41\u578b\u306f\u4f55\u304c\u9055\u3044\u307e\u3059\u304b\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u539f\u56e0\u907a\u4f1d\u5b50\u306e\u9055\u3044\u3067\u3059\u3002CFC1\u306fBRAF\u907a\u4f1d\u5b50\u3001CFC2\u306fMAP2K1\uff08MEK1\uff09\u907a\u4f1d\u5b50\u306e\u5909\u7570\u304c\u539f\u56e0\u3067\u3001\u3044\u305a\u308c\u3082RAS\/MAPK\u7d4c\u8def\u306e\u7570\u5e38\u3068\u3044\u3046\u70b9\u306f\u5171\u901a\u3057\u3066\u3044\u307e\u3059\u3002\u81e8\u5e8a\u75c7\u72b6\u306f\u91cd\u306a\u308b\u90e8\u5206\u304c\u591a\u304f\u3001\u907a\u4f1d\u5b50\u691c\u67fb\u3067\u3057\u304b\u533a\u5225\u3067\u304d\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"MAP2K1%E3%81%AB%E5%A4%89%E7%95%B0%E3%81%8C%E8%A6%8B%E3%81%A4%E3%81%8B%E3%82%8C%E3%81%B0%E5%BF%85%E3%81%9ACFC%E7%97%87%E5%80%99%E7%BE%A4%E3%81%A8%E8%A8%BA%E6%96%AD%E3%81%95%E3%82%8C%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span>MAP2K1\u306b\u5909\u7570\u304c\u898b\u3064\u304b\u308c\u3070\u5fc5\u305aCFC\u75c7\u5019\u7fa4\u3068\u8a3a\u65ad\u3055\u308c\u307e\u3059\u304b\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3044\u3044\u3048\u3001\u4e00\u81f4\u3059\u308b\u3068\u306f\u9650\u308a\u307e\u305b\u3093\u3002\u540c\u3058MAP2K1\u3067\u3082\u5909\u7570\u306e\u90e8\u4f4d\u3084\u7a2e\u985e\u306b\u3088\u3063\u3066\u75c5\u7684\u610f\u7fa9\u304c\u7570\u306a\u308a\u3001\u300c\u610f\u7fa9\u4e0d\u660e\u306a\u5909\u7570\uff08VUS\uff09\u300d\u3068\u5224\u5b9a\u3055\u308c\u308b\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002\u8a3a\u65ad\u306f\u81e8\u5e8a\u75c7\u72b6\u3068\u907a\u4f1d\u5b50\u691c\u67fb\u7d50\u679c\u3092\u3042\u308f\u305b\u3066\u3001\u81e8\u5e8a\u907a\u4f1d\u5c02\u9580\u533b\u304c\u7dcf\u5408\u7684\u306b\u5224\u65ad\u3057\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%E6%A4%9C%E6%9F%BB%EF%BC%88NIPT%EF%BC%89%E3%81%A7CFC%E7%97%87%E5%80%99%E7%BE%A4%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>\u51fa\u751f\u524d\u691c\u67fb\uff08NIPT\uff09\u3067CFC\u75c7\u5019\u7fa4\u306f\u308f\u304b\u308a\u307e\u3059\u304b\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6a19\u6e96\u7684\u306aNIPT\u306f13\u30fb18\u30fb21\u30c8\u30ea\u30bd\u30df\u30fc\u306a\u3069\u67d3\u8272\u4f53\u6570\u306e\u7570\u5e38\u3092\u5bfe\u8c61\u3068\u3057\u3066\u304a\u308a\u3001CFC2\u306e\u539f\u56e0\u3068\u306a\u308bMAP2K1\u306e\u70b9\u5909\u7570\u306f\u691c\u51fa\u5bfe\u8c61\u306b\u542b\u307e\u308c\u307e\u305b\u3093\u3002\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u307e\u3067\u5bfe\u8c61\u306b\u3057\u305f\u62e1\u5f35\u691c\u67fb\u3082\u975e\u78ba\u5b9a\u7684\u306a\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3067\u3042\u308b\u305f\u3081\u3001\u78ba\u5b9a\u306b\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u3084\u51fa\u751f\u5f8c\u306e\u907a\u4f1d\u5b50\u691c\u67fb\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"CFC%E7%97%87%E5%80%99%E7%BE%A42%E5%9E%8B%E3%81%AF%E9%81%BA%E4%BC%9D%E3%81%97%E3%81%BE%E3%81%99%E3%81%8B%E3%80%81%E3%81%9D%E3%82%8C%E3%81%A8%E3%82%82%E7%AA%81%E7%84%B6%E5%A4%89%E7%95%B0%E3%81%A7%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span>CFC\u75c7\u5019\u7fa42\u578b\u306f\u907a\u4f1d\u3057\u307e\u3059\u304b\u3001\u305d\u308c\u3068\u3082\u7a81\u7136\u5909\u7570\u3067\u3059\u304b\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3053\u308c\u307e\u3067\u306b\u5831\u544a\u3055\u308c\u305f\u4f8b\u306e\u5927\u591a\u6570\u306fde novo\uff08\u65b0\u751f\u7a81\u7136\u5909\u7570\uff09\u3067\u3001\u4e21\u89aa\u304b\u3089\u306e\u907a\u4f1d\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u3054\u304f\u307e\u308c\u306b\u8efd\u75c7\u306e\u89aa\u304b\u3089\u907a\u4f1d\u3059\u308b\u4f8b\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u305f\u3081\u3001\u5bb6\u65cf\u6b74\u306e\u78ba\u8a8d\u3068\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3092\u53d7\u3051\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%8C%BB%E7%99%82%E8%B2%BB%E5%8A%A9%E6%88%90%E3%81%AE%E5%AF%BE%E8%B1%A1%E3%81%AB%E3%81%AA%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span>\u533b\u7642\u8cbb\u52a9\u6210\u306e\u5bfe\u8c61\u306b\u306a\u308a\u307e\u3059\u304b\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>CFC\u75c7\u5019\u7fa4\u306f\u539f\u56e0\u907a\u4f1d\u5b50\u306e\u7a2e\u985e\u3092\u554f\u308f\u305a\u3001\u56fd\u5185\u306e\u6307\u5b9a\u96e3\u75c5103\u304a\u3088\u3073\u5c0f\u5150\u6162\u6027\u7279\u5b9a\u75be\u75c5\u306e\u5bfe\u8c61\u75be\u75c5\u3067\u3059\u3002\u533b\u7642\u8cbb\u52a9\u6210\u306e\u7533\u8acb\u65b9\u6cd5\u306f\u3001\u304a\u4f4f\u307e\u3044\u306e\u81ea\u6cbb\u4f53\u306e\u7a93\u53e3\u307e\u305f\u306f<a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4096\" target=\"_blank\" rel=\"noopener nofollow\">\u96e3\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/a>\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%AD%90%E3%81%A9%E3%82%82%E3%81%AE%E7%99%BA%E9%81%94%E6%94%AF%E6%8F%B4%E3%81%AF%E4%BD%95%E3%81%8B%E3%82%89%E5%A7%8B%E3%82%81%E3%82%8C%E3%81%B0%E3%81%84%E3%81%84%E3%81%A7%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span>\u5b50\u3069\u3082\u306e\u767a\u9054\u652f\u63f4\u306f\u4f55\u304b\u3089\u59cb\u3081\u308c\u3070\u3044\u3044\u3067\u3059\u304b\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u307e\u305a\u306f\u5fc3\u75be\u60a3\u306e\u6709\u7121\u3092\u5fc3\u30a8\u30b3\u30fc\u3067\u78ba\u8a8d\u3057\u3001\u4e26\u884c\u3057\u3066\u7406\u5b66\u7642\u6cd5\u30fb\u4f5c\u696d\u7642\u6cd5\u30fb\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\u306e\u76f8\u8ac7\u7a93\u53e3\u306b\u9023\u7d61\u3057\u3066\u304f\u3060\u3055\u3044\u3002\u591a\u304f\u306e\u81ea\u6cbb\u4f53\u306b\u306f\u7642\u80b2\u30bb\u30f3\u30bf\u30fc\u304c\u3042\u308a\u3001\u5c0f\u5150\u79d1\u4e3b\u6cbb\u533b\u304b\u3089\u306e\u7d39\u4ecb\u3067\u65e9\u671f\u4ecb\u5165\u306b\u3064\u306a\u3052\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%B5%90%E8%AB%96%EF%BC%9A%E7%90%86%E8%A7%A3%E3%81%AE%E6%B7%B1%E5%8C%96%E3%81%8C%E6%82%A3%E8%80%85%E3%81%AE%E6%9C%AA%E6%9D%A5%E3%82%92%E6%94%AF%E3%81%88%E3%82%8B\"><\/span><strong>\u7d50\u8ad6\uff1a\u7406\u89e3\u306e\u6df1\u5316\u304c\u60a3\u8005\u306e\u672a\u6765\u3092\u652f\u3048\u308b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>CFC\u75c7\u5019\u7fa42\u578b\u306f\u3001\u5358\u306a\u308b\u5f62\u614b\u7570\u5e38\u306e\u96c6\u307e\u308a\u3067\u306f\u306a\u304f\u3001MAP2K1\u3068\u3044\u3046\u7d30\u80de\u306e\u6307\u4ee4\u5854\u306e\u8aa4\u4f5c\u52d5\u304c\u751f\u307f\u51fa\u3059\u8907\u96d1\u306a\u591a\u7cfb\u7d71\u75be\u60a3\u3067\u3059\u3002\u907a\u4f1d\u5b50\u8a3a\u65ad\u306b\u3088\u3063\u3066\u8aa4\u4f5c\u52d5\u306e\u5834\u6240\u304c\u7279\u5b9a\u3055\u308c\u305f\u3053\u3068\u3067\u3001\u4e88\u898b\u7684\u306a\u533b\u7642\u306e\u63d0\u4f9b\u304c\u53ef\u80fd\u306b\u306a\u308a\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<p>\u65e9\u671f\u306e\u5fc3\u81d3\u30b1\u30a2\u3001\u9069\u5207\u306a\u30b9\u30ad\u30f3\u30b1\u30a2\u3001\u305d\u3057\u3066\u6839\u6c17\u5f37\u3044\u7642\u80b2\u3002\u3053\u308c\u3089\u3092\u7d44\u307f\u5408\u308f\u305b\u308b\u3053\u3068\u3067\u3001CFC2\u3068\u3068\u3082\u306b\u751f\u304d\u308b\u5b50\u3069\u3082\u305f\u3061\u306e\u53ef\u80fd\u6027\u3092\u5f15\u304d\u51fa\u305b\u307e\u3059\u3002\u5e0c\u5c11\u75be\u60a3\u3060\u304b\u3089\u3053\u305d\u3001\u6b63\u3057\u3044\u77e5\u8b58\u306e\u5171\u6709\u3068\u533b\u7642\u30cd\u30c3\u30c8\u30ef\u30fc\u30af\u306e\u6d3b\u7528\u304c\u3054\u5bb6\u65cf\u306e\u652f\u3048\u3068\u306a\u308a\u3001\u5b50\u3069\u3082\u305f\u3061\u306e\u672a\u6765\u3092\u62d3\u304f\u9375\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u95a2\u9023\u3059\u308b\u75be\u60a3\u306b\u3064\u3044\u3066\u8a73\u3057\u304f\u77e5\u308a\u305f\u3044\u65b9\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cardiofaciocutaneous-syndrome-cfc-rasopathy-guide\/\">CFC\u75c7\u5019\u7fa4\u306e\u7dcf\u8ad6<\/a>\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/costello-syndrome-guide\/\">\u30b3\u30b9\u30c6\u30ed\u75c7\u5019\u7fa4<\/a>\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/noonan-syndrome-type1-ptpn11-guide\/\">\u30cc\u30fc\u30ca\u30f3\u75c7\u5019\u7fa41\u578b<\/a>\u306e\u89e3\u8aac\u8a18\u4e8b\u3082\u3042\u308f\u305b\u3066\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<p>\u672c\u8a18\u4e8b\u306f\u4e00\u822c\u7684\u306a\u533b\u5b66\u60c5\u5831\u306e\u63d0\u4f9b\u3092\u76ee\u7684\u3068\u3057\u305f\u3082\u306e\u3067\u3042\u308a\u3001\u500b\u5225\u306e\u8a3a\u65ad\u30fb\u6cbb\u7642\u65b9\u91dd\u306f\u5fc5\u305a\u4e3b\u6cbb\u533b\u30fb\u81e8\u5e8a\u907a\u4f1d\u5c02\u9580\u533b\u306b\u3054\u76f8\u8ac7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<div class=\"wp-block-group author-box\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%9B%A3%E4%BF%AE%E8%80%85%E6%83%85%E5%A0%B1\"><\/span><strong>\u76e3\u4fee\u8005\u60c5\u5831<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p><strong>\u5ca1 \u535a\u53f2\uff08\u304a\u304b \u3072\u308d\u3057\uff09<\/strong><br\/>\u533b\u7642\u6cd5\u4eba\u793e\u56e3\u798f\u7f8e\u4f1a \u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u7d71\u62ec\u9662\u9577\uff0fLabo Director\uff08\u30e9\u30dc\u30c7\u30a3\u30ec\u30af\u30bf\u30fc\uff09<br\/>\u5ca1\u5c71\u770c\u51fa\u8eab\u3002\u6176\u61c9\u7fa9\u587e\u5927\u5b66\u533b\u5b66\u90e8\u5352\u696d\u5f8c\u3001\u65e5\u672c\u3068\u30a2\u30e1\u30ea\u30ab\u306e\u533b\u5e2b\u56fd\u5bb6\u8a66\u9a13\u306b\u5408\u683c\u3002\u81e8\u5e8a\u7814\u4fee\u5f8c2\u5e74\u3067\u533b\u5b66\u535a\u58eb\u3092\u53d6\u5f97\u3002\u65e5\u672c\u306b\u7d0420\u4eba\u307b\u3069\u3057\u304b\u3044\u306a\u3044\u30e9\u30dc\u30c7\u30a3\u30ec\u30af\u30bf\u30fc\u8cc7\u683c\u3092\u4fdd\u6709\u3057\u3066\u3044\u307e\u3059\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/obgyn\/\">\u7523\u5a66\u4eba\u79d1<\/a>\u5c02\u9580\u533b\u30fb\u5c0f\u5150\u79d1\u5c02\u9580\u533b\u30fb\u81e8\u5e8a\u907a\u4f1d\u5c02\u9580\u533b\u3068\u9023\u643a\u3057\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u4f53\u5236\u306e\u3082\u3068\u3067NIPT\u3092\u542b\u3080\u51fa\u751f\u524d\u691c\u67fb\u3092\u63d0\u4f9b\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n<\/div><\/div>\n\n\n\n<p>\u53c2\u8003\u60c5\u5831\u6e90<br\/>\n<a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4096\" target=\"_blank\" rel=\"noopener nofollow\">\u96e3\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc\u300cCFC\u75c7\u5019\u7fa4\uff08\u6307\u5b9a\u96e3\u75c5103\uff09\u300d<\/a><br\/>\n<a href=\"https:\/\/www.shouman.jp\/disease\/details\/13_01_016\/\" target=\"_blank\" rel=\"noopener nofollow\">\u5c0f\u5150\u6162\u6027\u7279\u5b9a\u75be\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc\u300cCFC\uff08cardio-facio-cutaneous\uff09\u75c7\u5019\u7fa4 \u6982\u8981\u300d<\/a><br\/>\n<a href=\"https:\/\/grj.umin.jp\/grj\/cfc.htm\" target=\"_blank\" rel=\"noopener nofollow\">Genetic Reviews Japan\u300cCFC\u75c7\u5019\u7fa4\u300d<\/a><br\/>\n<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1186\/\" target=\"_blank\" rel=\"noopener nofollow\">GeneReviews\u300cCardiofaciocutaneous Syndrome\u300d\uff08\u82f1\u8a9e\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 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