{"id":122834,"date":"2026-01-15T11:10:28","date_gmt":"2026-01-15T02:10:28","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=122834"},"modified":"2026-07-23T06:28:35","modified_gmt":"2026-07-22T21:28:35","slug":"chitayat-syndrome-erf-gene-clinical-features","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/chitayat-syndrome-erf-gene-clinical-features\/","title":{"rendered":"Chitayat\u75c7\u5019\u7fa4\uff08ERF\u907a\u4f1d\u5b50\u5909\u7570\uff09\u3068\u306f\uff5c\u75c7\u72b6\u30fb\u8a3a\u65ad\u30ac\u30a4\u30c9"},"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>Chitayat\u75c7\u5019\u7fa4\u306f\u3001ERF\u907a\u4f1d\u5b50\u306e\u7279\u5b9a\u306e\u518d\u767a\u6027\u5909\u7570\uff08p.Tyr89Cys\uff09\u304c\u539f\u56e0\u3067\u8d77\u3053\u308b\u3001\u4e16\u754c\u3067\u306e\u5831\u544a\u4f8b\u304c10\u6570\u4f8b\u3068\u3044\u3046\u6975\u3081\u3066\u5e0c\u5c11\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002<\/strong>\u8a3a\u65ad\u306e\u9375\u3068\u306a\u308b\u306e\u306f\u3001\u89aa\u6307\u3067\u306f\u306a\u304f\u793a\u6307\uff08\u4eba\u5dee\u3057\u6307\uff09\u306e\u526f\u6307\u9aa8\u306b\u3088\u308b\u77ed\u7e2e\u5909\u5f62\u3067\u3001\u5916\u53cd\u6bcd\u8dbe\u3084\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u3001\u51fa\u751f\u76f4\u5f8c\u304b\u3089\u306e\u6c17\u7ba1\u652f\u8edf\u5316\u75c7\u306a\u3069\u306e\u547c\u5438\u5668\u75c7\u72b6\u3092\u4f34\u3044\u307e\u3059\u3002\u540c\u3058ERF\u907a\u4f1d\u5b50\u304c\u539f\u56e0\u3067\u3082\u3001\u982d\u84cb\u9aa8\u7e2b\u5408\u65e9\u671f\u7652\u5408\u75c74\u578b\u3068\u306f\u5909\u7570\u306e\u7a2e\u985e\u3068\u75c7\u72b6\u304c\u7570\u306a\u308a\u3001Chitayat\u75c7\u5019\u7fa4\u3067\u306f\u982d\u84cb\u7e2b\u5408\u65e9\u671f\u7652\u5408\u306e\u5831\u544a\u4f8b\u304c\u3042\u308a\u307e\u305b\u3093\u3002\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u307e\u3060\u78ba\u7acb\u3055\u308c\u3066\u304a\u3089\u305a\u3001\u4e73\u5150\u671f\u306e\u547c\u5438\u7ba1\u7406\u3068\u767a\u9054\u652f\u63f4\u3092\u4e2d\u5fc3\u3068\u3057\u305f\u591a\u89d2\u7684\u306a\u30b1\u30a2\u304c\u884c\u308f\u308c\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\u3001\u3053\u306e\u75c5\u6c17\u306f\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\u76f8\u8ac7\u3057\u3066\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 style=\"margin-bottom:0;\">\n<li>Chitayat\u75c7\u5019\u7fa4\u3068\u306f\u3069\u3093\u306a\u75c5\u6c17\u3067\u3001ERF\u907a\u4f1d\u5b50\u304c\u3069\u3046\u95a2\u308f\u308b\u306e\u304b<\/li>\n<li>\u8a3a\u65ad\u306e\u6c7a\u3081\u624b\u3068\u306a\u308b\u624b\u6307\u30fb\u9854\u8c8c\u30fb\u547c\u5438\u5668\u306e\u7279\u5fb4\u7684\u306a\u30b5\u30a4\u30f3<\/li>\n<li>\u540c\u3058ERF\u907a\u4f1d\u5b50\u304c\u539f\u56e0\u306e\u982d\u84cb\u9aa8\u7e2b\u5408\u65e9\u671f\u7652\u5408\u75c74\u578b\u3068\u306e\u9055\u3044<\/li>\n<li>\u8a3a\u65ad\u306e\u9032\u307f\u65b9\u3068\u6cbb\u7642\u30fb\u9577\u671f\u30d5\u30a9\u30ed\u30fc\u306e\u8003\u3048\u65b9<\/li>\n<li>NIPT\u3067\u308f\u304b\u308b\u7bc4\u56f2\u306e\u9650\u754c\u3068\u3001\u51fa\u751f\u524d\u691c\u67fb\u3068\u306e\u843d\u3061\u7740\u3044\u305f\u5411\u304d\u5408\u3044\u65b9<\/li>\n<\/ul>\n<\/div>\n\n\n\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          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class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chitayat-syndrome-erf-gene-clinical-features\/#%E4%BA%88%E5%BE%8C%E3%83%BB%E4%BB%8A%E5%BE%8C%E3%81%AE%E5%B1%95%E6%9C%9B\" >\u4e88\u5f8c\u30fb\u4eca\u5f8c\u306e\u5c55\u671b<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-12\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chitayat-syndrome-erf-gene-clinical-features\/#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-13\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chitayat-syndrome-erf-gene-clinical-features\/#%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-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chitayat-syndrome-erf-gene-clinical-features\/#%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-15\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chitayat-syndrome-erf-gene-clinical-features\/#Q_Chitayat%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. Chitayat\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-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chitayat-syndrome-erf-gene-clinical-features\/#Q_%E3%81%A9%E3%82%93%E3%81%AA%E7%97%87%E7%8A%B6%E3%81%8C%E3%81%82%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\" >Q. \u3069\u3093\u306a\u75c7\u72b6\u304c\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-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chitayat-syndrome-erf-gene-clinical-features\/#Q_%E9%A0%AD%E8%93%8B%E9%AA%A8%E7%B8%AB%E5%90%88%E6%97%A9%E6%9C%9F%E7%99%92%E5%90%88%E7%97%874%E5%9E%8B%E3%81%A8%E3%81%AF%E9%81%95%E3%81%86%E7%97%85%E6%B0%97%E3%81%A7%E3%81%99%E3%81%8B%EF%BC%9F\" >Q. \u982d\u84cb\u9aa8\u7e2b\u5408\u65e9\u671f\u7652\u5408\u75c74\u578b\u3068\u306f\u9055\u3046\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-18\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chitayat-syndrome-erf-gene-clinical-features\/#Q_%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AB%E8%A8%BA%E6%96%AD%E3%81%95%E3%82%8C%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\" >Q. \u3069\u306e\u3088\u3046\u306b\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-19\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chitayat-syndrome-erf-gene-clinical-features\/#Q_%E9%81%BA%E4%BC%9D%E5%BD%A2%E5%BC%8F%E3%81%AF%EF%BC%9F%E4%B8%A1%E8%A6%AA%E3%81%AE%E7%94%9F%E6%B4%BB%E7%BF%92%E6%85%A3%E3%81%8C%E5%8E%9F%E5%9B%A0%E3%81%AB%E3%81%AA%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\" >Q. \u907a\u4f1d\u5f62\u5f0f\u306f\uff1f\u4e21\u89aa\u306e\u751f\u6d3b\u7fd2\u6163\u304c\u539f\u56e0\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-20\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chitayat-syndrome-erf-gene-clinical-features\/#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><\/ul><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Chitayat%E7%97%87%E5%80%99%E7%BE%A4%E3%81%A8%E3%81%AF%EF%BD%9CERF%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>Chitayat\u75c7\u5019\u7fa4\u3068\u306f\uff5cERF\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>Chitayat\u75c7\u5019\u7fa4\u306f\u300119\u756a\u67d3\u8272\u4f53\u9577\u8155\uff0819q13.2\uff09\u306b\u4f4d\u7f6e\u3059\u308bERF\u907a\u4f1d\u5b50\u306e\u7279\u5b9a\u306e\u518d\u767a\u6027\u5909\u7570\u304c\u539f\u56e0\u3067\u8d77\u3053\u308b\u3001\u5168\u8eab\u6027\u306e\u767a\u9054\u7570\u5e38\u3092\u4f34\u3046\u6975\u3081\u3066\u5e0c\u5c11\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002<\/strong>1992\u5e74\u306bChitayat\u3089\u306b\u3088\u3063\u3066\u521d\u3081\u3066\u75c7\u4f8b\u304c\u5831\u544a\u3055\u308c\u30012016\u5e74\u306bBalasubramanian\u3089\u306e\u7814\u7a76\u30b0\u30eb\u30fc\u30d7\u304c\u5206\u5b50\u907a\u4f1d\u5b66\u7684\u306a\u539f\u56e0\u3092\u7279\u5b9a\u3057\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<p>\u539f\u56e0\u3068\u306a\u308b\u306e\u306f\u3001ERF\u907a\u4f1d\u5b50\u306ec.266A>G p.(Tyr89Cys)\u3068\u3044\u3046\u7279\u5b9a\u306e\u30df\u30b9\u30bb\u30f3\u30b9\u5909\u7570\u3067\u3059\u3002\u3053\u306e\u5909\u7570\u306f\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u4e2d\u3067\u3082\u6a5f\u80fd\u7684\u306b\u91cd\u8981\u306a\u300cETS\u30c9\u30e1\u30a4\u30f3\u300d\u3068\u3044\u3046\u9818\u57df\u306b\u4f4d\u7f6e\u3057\u3001\u8907\u6570\u306e\u75c7\u4f8b\u3067\u7e70\u308a\u8fd4\u3057\u78ba\u8a8d\u3055\u308c\u3066\u3044\u308b\u518d\u767a\u6027\u5909\u7570\u3067\u3042\u308b\u70b9\u304c\u7279\u5fb4\u7684\u3067\u3059\u3002\u4e16\u754c\u3067\u306e\u5831\u544a\u4f8b\u306f\u3053\u308c\u307e\u3067\u306b13\u301c16\u4f8b\u7a0b\u5ea6\u306b\u3068\u3069\u307e\u308a\u3001\u65e5\u672c\u8a9e\u3067\u307e\u3068\u307e\u3063\u305f\u60c5\u5831\u306f\u307e\u3060\u591a\u304f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"ERF%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>ERF\u907a\u4f1d\u5b50\u306e\u5f79\u5272\u3068\u3057\u304f\u307f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>ERF\u907a\u4f1d\u5b50\u306f\u3001ETS\u30d5\u30a1\u30df\u30ea\u30fc\u306b\u5c5e\u3059\u308b\u8ee2\u5199\u56e0\u5b50\u3092\u30b3\u30fc\u30c9\u3057\u3066\u304a\u308a\u3001\u4e3b\u306bRAS\/MAPK\u30b7\u30b0\u30ca\u30eb\u4f1d\u9054\u7d4c\u8def\u306e\u4e0b\u6d41\u3067\u300c\u6291\u5236\u56e0\u5b50\uff08\u30ea\u30d7\u30ec\u30c3\u30b5\u30fc\uff09\u300d\u3068\u3057\u3066\u50cd\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u30b7\u30b0\u30ca\u30eb\u306e\u6291\u5236: \u901a\u5e38\u3001ERF\u306f\u7279\u5b9a\u306e\u6a19\u7684\u907a\u4f1d\u5b50\u306e\u30d7\u30ed\u30e2\u30fc\u30bf\u30fc\u9818\u57df\u306b\u7d50\u5408\u3057\u3001\u7d30\u80de\u306e\u5897\u6b96\u3084\u5206\u5316\u3092\u4fc3\u9032\u3059\u308b\u907a\u4f1d\u5b50\u306e\u904e\u5270\u306a\u767a\u73fe\u3092\u6291\u3048\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5909\u7570\u306b\u3088\u308b\u5f71\u97ff: ERF\u907a\u4f1d\u5b50\u306b\u5909\u7570\u304c\u751f\u3058\u308b\u3068\u3001\u3053\u306e\u6291\u5236\u306e\u50cd\u304d\u306b\u4e71\u308c\u304c\u751f\u3058\u307e\u3059\u3002\u305f\u3060\u3057\u3001Chitayat\u75c7\u5019\u7fa4\u3067\u3069\u306e\u3088\u3046\u306a\u3057\u304f\u307f\u3067\u9aa8\u683c\u3084\u547c\u5438\u5668\u306e\u75c7\u72b6\u306b\u3064\u306a\u304c\u308b\u306e\u304b\u306f\u3001\u307e\u3060\u89e3\u660e\u306e\u9014\u4e0a\u306b\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u907a\u4f1d\u5f62\u5f0f\u306f\u5e38\u67d3\u8272\u4f53\u9855\u6027\u907a\u4f1d\u3067\u3059\u3002\u591a\u304f\u306f\u4e21\u89aa\u306b\u5909\u5316\u304c\u306a\u3044\u65b0\u751f\u5909\u7570\uff08\u5b64\u767a\u4f8b\uff09\u3068\u3057\u3066\u767a\u75c7\u3057\u307e\u3059\u304c\u3001\u5831\u544a\u4f8b\u306e\u306a\u304b\u306b\u306f\u7f79\u60a3\u3057\u305f\u7236\u89aa\u304b\u3089\u5b50\u3078\u53d7\u3051\u7d99\u304c\u308c\u305f\u5bb6\u7cfb\u30822\u4f8b\u542b\u307e\u308c\u3066\u3044\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<figure class=\"wp-block-image aligncenter\" style=\"margin:1.5rem auto;\">\n<svg role=\"img\" aria-label=\"Chitayat\u75c7\u5019\u7fa4\u306e\u4e09\u3064\u306e\u81e8\u5e8a\u30c9\u30e1\u30a4\u30f3\u3092\u793a\u3057\u305f\u56f3\u3002\u9aa8\u683c\u7cfb\u3001\u547c\u5438\u5668\u7cfb\u3001\u9854\u8c8c\u306e\u7279\u5fb4\" viewBox=\"0 0 720 320\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" style=\"max-width:720px;width:100%;height:auto;font-family:sans-serif;\">\n  <rect x=\"0\" y=\"0\" width=\"720\" height=\"320\" fill=\"#fff9fb\"\/>\n  <text x=\"360\" y=\"40\" text-anchor=\"middle\" font-size=\"20\" fill=\"#5a2b3a\">Chitayat\u75c7\u5019\u7fa4\u306e\u4e09\u3064\u306e\u81e8\u5e8a\u30c9\u30e1\u30a4\u30f3<\/text>\n  <rect x=\"30\" y=\"66\" width=\"200\" height=\"200\" rx=\"14\" fill=\"#f6b8cd\"\/>\n  <text x=\"130\" y=\"102\" text-anchor=\"middle\" font-size=\"16\" fill=\"#5a2b3a\">\u2460\u9aa8\u683c\u7cfb<\/text>\n  <text x=\"130\" y=\"132\" text-anchor=\"middle\" font-size=\"13\" fill=\"#5a2b3a\">\u793a\u6307\u306e\u77ed\u7e2e<\/text>\n  <text x=\"130\" y=\"154\" text-anchor=\"middle\" font-size=\"13\" fill=\"#5a2b3a\">\u5c3a\u5074\u504f\u4f4d<\/text>\n  <text x=\"130\" y=\"176\" text-anchor=\"middle\" font-size=\"13\" fill=\"#5a2b3a\">\u5916\u53cd\u6bcd\u8dbe<\/text>\n  <rect x=\"260\" y=\"66\" width=\"200\" height=\"200\" rx=\"14\" fill=\"#fbe1eb\"\/>\n  <text x=\"360\" y=\"102\" text-anchor=\"middle\" font-size=\"16\" fill=\"#5a2b3a\">\u2461\u547c\u5438\u5668\u7cfb<\/text>\n  <text x=\"360\" y=\"132\" text-anchor=\"middle\" font-size=\"13\" fill=\"#5a2b3a\">\u6c17\u7ba1\u30fb\u6c17\u7ba1\u652f<\/text>\n  <text x=\"360\" y=\"154\" text-anchor=\"middle\" font-size=\"13\" fill=\"#5a2b3a\">\u8edf\u5316\u75c7<\/text>\n  <text x=\"360\" y=\"176\" text-anchor=\"middle\" font-size=\"13\" fill=\"#5a2b3a\">\u53cd\u5fa9\u6027\u611f\u67d3<\/text>\n  <rect x=\"490\" y=\"66\" width=\"200\" height=\"200\" rx=\"14\" fill=\"#f6b8cd\"\/>\n  <text x=\"590\" y=\"102\" text-anchor=\"middle\" font-size=\"16\" fill=\"#5a2b3a\">\u2462\u9854\u8c8c<\/text>\n  <text x=\"590\" y=\"132\" text-anchor=\"middle\" font-size=\"13\" fill=\"#5a2b3a\">\u773c\u9593\u958b\u5927<\/text>\n  <text x=\"590\" y=\"154\" text-anchor=\"middle\" font-size=\"13\" fill=\"#5a2b3a\">\u9f3b\u6881\u4f4e\u5f62\u6210<\/text>\n  <text x=\"590\" y=\"176\" text-anchor=\"middle\" font-size=\"13\" fill=\"#5a2b3a\">\u5927\u6cc9\u9580\u958b\u5927<\/text>\n<\/svg>\n<figcaption>Chitayat\u75c7\u5019\u7fa4\u3067\u898b\u3089\u308c\u308b\u9aa8\u683c\u7cfb\u30fb\u547c\u5438\u5668\u7cfb\u30fb\u9854\u8c8c\u306e\u4e09\u3064\u306e\u7279\u5fb4\u9818\u57df\u306e\u30a4\u30e1\u30fc\u30b8<\/figcaption>\n<\/figure>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%A0%AD%E8%93%8B%E9%AA%A8%E7%B8%AB%E5%90%88%E6%97%A9%E6%9C%9F%E7%99%92%E5%90%88%E7%97%874%E5%9E%8B%E3%81%A8%E3%81%AE%E9%81%95%E3%81%84%EF%BC%88%E5%90%8C%E3%81%98ERF%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%A7%E3%82%82%E7%97%85%E5%9E%8B%E3%81%8C%E7%95%B0%E3%81%AA%E3%82%8B%E7%90%86%E7%94%B1%EF%BC%89\"><\/span><strong>\u982d\u84cb\u9aa8\u7e2b\u5408\u65e9\u671f\u7652\u5408\u75c74\u578b\u3068\u306e\u9055\u3044\uff08\u540c\u3058ERF\u907a\u4f1d\u5b50\u3067\u3082\u75c5\u578b\u304c\u7570\u306a\u308b\u7406\u7531\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p><strong>\u540c\u3058ERF\u907a\u4f1d\u5b50\u306e\u5909\u5316\u304c\u539f\u56e0\u3067\u3082\u3001\u5909\u7570\u306e\u7a2e\u985e\u306b\u3088\u3063\u3066\u73fe\u308c\u308b\u75c5\u6c17\u306f\u307e\u3063\u305f\u304f\u7570\u306a\u308a\u307e\u3059\u3002<\/strong>ERF\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u306f\u3001Chitayat\u75c7\u5019\u7fa4\u306e\u307b\u304b\u306b\u300c\u982d\u84cb\u9aa8\u7e2b\u5408\u65e9\u671f\u7652\u5408\u75c74\u578b\uff08ERF\u95a2\u9023craniosynostosis\uff09\u300d\u3068\u3044\u3046\u5225\u306e\u75c5\u578b\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u4e21\u8005\u306f\u539f\u56e0\u907a\u4f1d\u5b50\u3053\u305d\u5171\u901a\u3067\u3059\u304c\u3001\u5909\u7570\u306e\u6027\u8cea\u3068\u75c7\u72b6\u306e\u4e2d\u8eab\u304c\u7570\u306a\u308b\u70b9\u306b\u6ce8\u610f\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u982d\u84cb\u9aa8\u7e2b\u5408\u65e9\u671f\u7652\u5408\u75c74\u578b\u306f\u3001\u30df\u30b9\u30bb\u30f3\u30b9\u30fb\u30ca\u30f3\u30bb\u30f3\u30b9\u30fb\u30d5\u30ec\u30fc\u30e0\u30b7\u30d5\u30c8\u306a\u3069\u591a\u69d8\u306a\u6a5f\u80fd\u55aa\u5931\u578b\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u8d77\u3053\u308a\u3001\u982d\u84cb\u9aa8\u306e\u3064\u306a\u304e\u76ee\u304c\u65e9\u304f\u56fa\u307e\u308b\u70b9\u304c\u4e3b\u306a\u75c7\u72b6\u3067\u3059\u3002\u4e00\u65b9\u3067Chitayat\u75c7\u5019\u7fa4\u306f\u3001\u524d\u8ff0\u306ep.(Tyr89Cys)\u3068\u3044\u3046\u7279\u5b9a\u306e\u5909\u7570\u306b\u9650\u3089\u308c\u3066\u304a\u308a\u3001\u5831\u544a\u3055\u308c\u305f\u75c7\u4f8b\u3067\u306f\u982d\u84cb\u7e2b\u5408\u306e\u65e9\u671f\u7652\u5408\u304c\u78ba\u8a8d\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002\u624b\u6307\u306e\u526f\u6307\u9aa8\u3084\u547c\u5438\u5668\u75c7\u72b6\u3068\u3044\u3046\u3001\u982d\u84cb\u9aa8\u7e2b\u5408\u65e9\u671f\u7652\u5408\u75c74\u578b\u306b\u306f\u306a\u3044\u7279\u5fb4\u3092\u6301\u3064\u70b9\u304c\u5927\u304d\u306a\u9055\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<figure class=\"wp-block-table\"><table><thead><tr><th>\u6bd4\u8f03\u9805\u76ee<\/th><th>Chitayat\u75c7\u5019\u7fa4<\/th><th>\u982d\u84cb\u9aa8\u7e2b\u5408\u65e9\u671f\u7652\u5408\u75c74\u578b<\/th><\/tr><\/thead><tbody><tr><td>\u539f\u56e0\u5909\u7570<\/td><td>\u7279\u5b9a\u306e\u518d\u767a\u6027\u30df\u30b9\u30bb\u30f3\u30b9\u5909\u7570\uff08p.Tyr89Cys\uff09\u306b\u9650\u5b9a<\/td><td>\u30df\u30b9\u30bb\u30f3\u30b9\u30fb\u30ca\u30f3\u30bb\u30f3\u30b9\u30fb\u30d5\u30ec\u30fc\u30e0\u30b7\u30d5\u30c8\u306a\u3069\u591a\u69d8<\/td><\/tr><tr><td>\u982d\u84cb\u7e2b\u5408\u306e\u65e9\u671f\u7652\u5408<\/td><td>\u5831\u544a\u4f8b\u3067\u306f\u78ba\u8a8d\u3055\u308c\u3066\u3044\u306a\u3044<\/td><td>\u4e3b\u75c7\u72b6\u3002\u8907\u6570\u306e\u7e2b\u5408\u304c\u95a2\u308f\u308a\u3084\u3059\u3044<\/td><\/tr><tr><td>\u624b\u6307\u306e\u7279\u5fb4<\/td><td>\u793a\u6307\u306e\u526f\u6307\u9aa8\u306b\u3088\u308b\u77ed\u7e2e\u30fb\u5c3a\u5074\u504f\u4f4d\u3001\u5916\u53cd\u6bcd\u8dbe<\/td><td>\u660e\u78ba\u306a\u904e\u5270\u6307\u9aa8\u306e\u5831\u544a\u306f\u306a\u3044<\/td><\/tr><tr><td>\u547c\u5438\u5668\u75c7\u72b6<\/td><td>\u6c17\u7ba1\u652f\u8edf\u5316\u75c7\u30fb\u6c17\u7ba1\u8edf\u5316\u75c7\u304c\u7279\u5fb4\u7684<\/td><td>\u4e3b\u75c7\u72b6\u3068\u3057\u3066\u306f\u5831\u544a\u3055\u308c\u3066\u3044\u306a\u3044<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<p>\u578b\u3054\u3068\u306e\u9055\u3044\u3092\u8a73\u3057\u304f\u77e5\u308a\u305f\u3044\u65b9\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/craniosynostosis-4-erf-guide\/\">\u982d\u84cb\u9aa8\u7e2b\u5408\u65e9\u671f\u7652\u5408\u75c74\u578b\u306e\u89e3\u8aac\u8a18\u4e8b<\/a>\u3082\u3042\u308f\u305b\u3066\u3054\u89a7\u304f\u3060\u3055\u3044\u3002\u982d\u84cb\u9aa8\u306e\u5f62\u6210\u306b\u95a2\u308f\u308b\u75c5\u6c17\u3068\u3057\u3066\u306f\u3001\u307b\u304b\u306b\u3082<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/crouzon-syndrome-guide\/\">\u30af\u30eb\u30fc\u30be\u30f3\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>\u306a\u3069\u304c\u77e5\u3089\u308c\u3066\u304a\u308a\u3001\u539f\u56e0\u907a\u4f1d\u5b50\u3054\u3068\u306b\u73fe\u308c\u65b9\u304c\u7570\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%89%B9%E5%BE%B4%E7%9A%84%E3%81%AA%E8%87%A8%E5%BA%8A%E6%89%80%E8%A6%8B%EF%BD%9C%E8%A8%BA%E6%96%AD%E3%81%AE%E9%8D%B5%E3%81%AF%E3%80%8C%E8%A6%AA%E6%8C%87%E3%80%8D%E3%81%A7%E3%81%AF%E3%81%AA%E3%81%8F%E3%80%8C%E7%A4%BA%E6%8C%87%E3%80%8D\"><\/span><strong>\u7279\u5fb4\u7684\u306a\u81e8\u5e8a\u6240\u898b\uff5c\u8a3a\u65ad\u306e\u9375\u306f\u300c\u89aa\u6307\u300d\u3067\u306f\u306a\u304f\u300c\u793a\u6307\u300d<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>Chitayat\u75c7\u5019\u7fa4\u3092\u7591\u3046\u6c7a\u3081\u624b\u306f\u3001\u89aa\u6307\u3067\u306f\u306a\u304f\u793a\u6307\uff08\u4eba\u5dee\u3057\u6307\uff09\u306b\u898b\u3089\u308c\u308b\u9aa8\u683c\u306e\u5909\u5316\u3067\u3059\u3002<\/strong>\u5e0c\u5c11\u306a\u75be\u60a3\u3086\u3048\u306b\u898b\u9003\u3055\u308c\u3084\u3059\u3044\u3082\u306e\u306e\u3001\u624b\u6307\u30fb\u547c\u5438\u5668\u30fb\u9854\u8c8c\u3068\u3044\u3046\u4e09\u3064\u306e\u30c9\u30e1\u30a4\u30f3\u306b\u7279\u5fb4\u7684\u306a\u30b5\u30a4\u30f3\u304c\u73fe\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A0%E6%89%8B%E3%81%8A%E3%82%88%E3%81%B3%E8%B6%B3%E3%81%AE%E9%AA%A8%E6%A0%BC%E7%95%B0%E5%B8%B8%EF%BC%88%E6%9C%80%E3%82%82%E7%89%B9%E5%BE%B4%E7%9A%84%E3%81%AA%E3%82%B5%E3%82%A4%E3%83%B3%EF%BC%89\"><\/span><strong>\u2460\u624b\u304a\u3088\u3073\u8db3\u306e\u9aa8\u683c\u7570\u5e38\uff08\u6700\u3082\u7279\u5fb4\u7684\u306a\u30b5\u30a4\u30f3\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u672c\u75c7\u5019\u7fa4\u3092\u5f37\u304f\u793a\u5506\u3059\u308b\u306e\u306f\u3001\u793a\u6307\uff08\u4eba\u5dee\u3057\u6307\uff09\u306b\u898b\u3089\u308c\u308b\u526f\u6307\u9aa8\uff08\u4f59\u5206\u306a\u6307\u9aa8\uff09\u306b\u3088\u308b\u77ed\u7e2e\u5909\u5f62\u3067\u3059\u3002\u624b\u306eX\u7dda\u691c\u67fb\u3067\u306f\u3001\u793a\u6307\u306e\u8fd1\u4f4d\u6307\u9aa8\u304c\u4f4e\u5f62\u6210\u3067\u4e09\u89d2\u5f62\u72b6\u3092\u5448\u3059\u308b\u3053\u3068\u304c\u78ba\u8a8d\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u793a\u6307\u306e\u77ed\u7e2e\u30fb\u5c3a\u5074\u504f\u4f4d:<\/strong> \u4e21\u5074\u6027\u306e\u526f\u6307\u9aa8\u306b\u3088\u308a\u793a\u6307\u304c\u77ed\u304f\u306a\u308a\u3001\u5c0f\u6307\u5074\u3078\u66f2\u304c\u3063\u3066\u898b\u3048\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u8a3a\u65ad\u306e\u5f37\u529b\u306a\u624b\u304c\u304b\u308a\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u74b0\u6307\u30fb\u5c0f\u6307\u306e\u5f4e\u66f2\u6307: \u85ac\u6307\u3084\u5c0f\u6307\u306b\u8efd\u5ea6\u306e\u306d\u3058\u308c\u3084\u66f2\u304c\u308a\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5916\u53cd\u6bcd\u8dbe:<\/strong> \u8db3\u306e\u89aa\u6307\u304c\u5916\u5074\u3078\u50be\u304f\u5916\u53cd\u6bcd\u8dbe\u304c\u4e21\u5074\u6027\u306b\u898b\u3089\u308c\u308b\u4f8b\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A1%E5%91%BC%E5%90%B8%E5%99%A8%E7%B3%BB%E3%81%AE%E7%95%B0%E5%B8%B8\"><\/span><strong>\u2461\u547c\u5438\u5668\u7cfb\u306e\u7570\u5e38<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u51fa\u751f\u76f4\u5f8c\u304b\u3089\u751f\u547d\u306b\u95a2\u308f\u308b\u7ba1\u7406\u304c\u5fc5\u8981\u3068\u306a\u308b\u3001\u91cd\u8981\u306a\u5408\u4f75\u75c7\u3067\u3059\u3002\u591a\u304f\u306e\u5831\u544a\u4f8b\u3067\u3001\u751f\u5f8c\u6570\u6642\u9593\u304b\u3089\u983b\u547c\u5438\u304c\u59cb\u307e\u308a\u3001\u9178\u7d20\u7642\u6cd5\u304c\u5fc5\u8981\u306b\u306a\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6c17\u7ba1\u8edf\u5316\u75c7\u30fb\u6c17\u7ba1\u652f\u8edf\u5316\u75c7:<\/strong> \u6c17\u9053\u306e\u8edf\u9aa8\u304c\u8106\u5f31\u3067\u3042\u308b\u305f\u3081\u3001\u547c\u5438\u6642\u306b\u6c17\u9053\u304c\u865a\u8131\u3057\u3084\u3059\u304f\u3001\u5598\u9cf4\uff08\u30b9\u30c8\u30e9\u30a4\u30c0\u30fc\uff09\u3084\u547c\u5438\u56f0\u96e3\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002\u78ba\u5b9a\u8a3a\u65ad\u306b\u306f\u6c17\u7ba1\u652f\u93e1\u691c\u67fb\u304c\u7528\u3044\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u53cd\u5fa9\u6027\u306e\u547c\u5438\u5668\u611f\u67d3\u75c7: \u6c17\u9053\u306e\u69cb\u9020\u7684\u306a\u554f\u984c\u306b\u52a0\u3048\u3001\u7d30\u6c17\u7ba1\u652f\u708e\u3092\u7e70\u308a\u8fd4\u3059\u4f8b\u304c\u3042\u308a\u3001\u9577\u671f\u306e\u5728\u5b85\u9178\u7d20\u7642\u6cd5\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A2%E7%89%B9%E7%95%B0%E7%9A%84%E3%81%AA%E9%A1%94%E8%B2%8C\"><\/span><strong>\u2462\u7279\u7570\u7684\u306a\u9854\u8c8c<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5c02\u9580\u533b\u304c\u8996\u8a3a\u3067\u7591\u3044\u3092\u6301\u3064\u304d\u3063\u304b\u3051\u3068\u306a\u308b\u3001\u8efd\u5ea6\u304b\u3089\u4e2d\u7b49\u5ea6\u306e\u9854\u8c8c\u306e\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u773c\u9593\u958b\u5927\u3068\u5927\u6cc9\u9580\u958b\u5927:<\/strong> \u76ee\u3068\u76ee\u306e\u9593\u304c\u5e83\u304f\u3001\u982d\u84cb\u9aa8\u306e\u3064\u306a\u304e\u76ee\u3067\u3042\u308b\u5927\u6cc9\u9580\u304c\u5927\u304d\u304f\u958b\u3044\u3066\u3044\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u4f4e\u3044\u9f3b\u6881\u3068\u524d\u65b9\u3092\u5411\u3044\u305f\u9f3b\u5b54: \u9f3b\u306e\u4ed8\u3051\u6839\u304c\u5e73\u5766\u3067\u3001\u9f3b\u306e\u7a74\u304c\u3084\u3084\u4e0a\u3092\u5411\u3044\u305f\u5f62\u72b6\u306b\u306a\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u539a\u3044\u5507\u3068\u4f4e\u4f4d\u306e\u5f8c\u9aea\u969b: \u53e3\u306e\u5468\u308a\u306e\u8edf\u90e8\u7d44\u7e54\u304c\u3084\u3084\u539a\u304f\u3001\u5f8c\u982d\u90e8\u306e\u751f\u3048\u969b\u304c\u4f4e\u3044\u4f4d\u7f6e\u306b\u3042\u308b\u4f8b\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u3053\u308c\u3089\u306e\u7279\u5fb4\u306f\u4e00\u4eba\u3072\u3068\u308a\u3067\u7a0b\u5ea6\u304c\u5927\u304d\u304f\u7570\u306a\u308a\u307e\u3059\u3002\u3059\u3079\u3066\u304c\u305d\u308d\u308f\u306a\u3044\u4f8b\u3082\u5c11\u306a\u304f\u306a\u3044\u305f\u3081\u3001\u793a\u6307\u306eX\u7dda\u6240\u898b\u3068\u7d44\u307f\u5408\u308f\u305b\u3066\u7dcf\u5408\u7684\u306b\u5224\u65ad\u3059\u308b\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n<!--nipt_mono-->\r\n<div class=\"nipt-mono\">\r\n    <div class=\"nipt-mono-btn\">\r\n        <a href=\"\/nipt\/nipt-mono\/\">\r\n            <img decoding=\"async\" loading=\"lazy\" src=\"\/nipt\/wp-content\/uploads\/2026\/03\/NIPT-MONO.webp\" alt=\"NIPT-MONO\u3067\u8abf\u3079\u3089\u308c\u307e\u3059\">\r\n         <\/a>\r\n    <\/div>\r\n<\/div>\r\n\r\n<style>\r\n.nipt-mono {\r\n    text-align: center; \/* \u89aa\u8981\u7d20\u3067\u6a2a\u4e2d\u592e *\/\r\n}\r\n.nipt-mono a img {\r\n    display: inline-block; \/* \u753b\u50cf\u3092\u30a4\u30f3\u30e9\u30a4\u30f3\u30d6\u30ed\u30c3\u30af\u5316\u3057\u3066 text-align \u306b\u53cd\u6620 *\/\r\n    width: 333px;\r\n}\r\n<\/style>\r\n<!--\/nipt_mono-->\r\n\r\n\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%A8%BA%E6%96%AD%E3%83%97%E3%83%AD%E3%82%BB%E3%82%B9%E3%81%A8%E7%AE%A1%E7%90%86%E6%8C%87%E9%87%9D\"><\/span><strong>\u8a3a\u65ad\u30d7\u30ed\u30bb\u30b9\u3068\u7ba1\u7406\u6307\u91dd<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>Chitayat\u75c7\u5019\u7fa4\u306e\u78ba\u5b9a\u306b\u306f\u3001\u81e8\u5e8a\u75c7\u72b6\u306e\u7d71\u5408\u3068\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u306b\u3088\u308b\u8a3c\u660e\u304c\u4e0d\u53ef\u6b20\u3067\u3059\u3002<\/strong>\u5e0c\u5c11\u75be\u60a3\u3067\u3042\u308b\u305f\u3081\u3001\u8907\u6570\u306e\u8a3a\u7642\u79d1\u304c\u9023\u643a\u3057\u3066\u8a3a\u65ad\u3092\u9032\u3081\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%A2%BA%E5%AE%9A%E8%A8%BA%E6%96%AD%E3%81%B8%E3%81%AE%E3%82%B9%E3%83%86%E3%83%83%E3%83%97\"><\/span><strong>\u78ba\u5b9a\u8a3a\u65ad\u3078\u306e\u30b9\u30c6\u30c3\u30d7<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ol class=\"wp-block-list\">\n<li>\u653e\u5c04\u7dda\u5b66\u7684\u8a55\u4fa1: \u624b\u3068\u8db3\u306eX\u7dda\u64ae\u5f71\u3092\u884c\u3044\u3001\u793a\u6307\u306e\u526f\u6307\u9aa8\u30fb\u77ed\u7e2e\u3084\u5916\u53cd\u6bcd\u8dbe\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002\u3053\u308c\u304c\u8a3a\u65ad\u306e\u91cd\u8981\u306a\u6839\u62e0\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u5b50\u30d1\u30cd\u30eb\u89e3\u6790\u30fb\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\uff08WES\uff09:<\/strong> ERF\u907a\u4f1d\u5b50\u306ec.266A>G p.(Tyr89Cys)\u5909\u7570\u3092\u540c\u5b9a\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u547c\u5438\u6a5f\u80fd\u8a55\u4fa1: \u6c17\u7ba1\u652f\u93e1\u691c\u67fb\u306a\u3069\u306b\u3088\u308a\u3001\u6c17\u7ba1\u8edf\u5316\u75c7\u30fb\u6c17\u7ba1\u652f\u8edf\u5316\u75c7\u306e\u7a0b\u5ea6\u3092\u8a55\u4fa1\u3057\u307e\u3059\u3002<\/li>\n<\/ol>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%8C%85%E6%8B%AC%E7%9A%84%E3%83%9E%E3%83%8D%E3%82%B8%E3%83%A1%E3%83%B3%E3%83%88\"><\/span><strong>\u5305\u62ec\u7684\u30de\u30cd\u30b8\u30e1\u30f3\u30c8<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u307e\u3060\u78ba\u7acb\u3055\u308c\u3066\u3044\u306a\u3044\u305f\u3081\u3001\u75c7\u72b6\u306b\u5fdc\u3058\u305f\u591a\u89d2\u7684\u306a\u4ecb\u5165\u304c\u4e2d\u5fc3\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u547c\u5438\u7ba1\u7406:<\/strong> \u91cd\u75c7\u306e\u6c17\u7ba1\u8edf\u5316\u75c7\u306b\u5bfe\u3057\u3066\u306f\u3001\u9178\u7d20\u7642\u6cd5\u3084CPAP\uff08\u6301\u7d9a\u967d\u5727\u547c\u5438\u7642\u6cd5\uff09\u304c\u7528\u3044\u3089\u308c\u307e\u3059\u3002\u75c7\u72b6\u304c\u91cd\u3044\u5834\u5408\u306f\u6c17\u7ba1\u5207\u958b\u304c\u691c\u8a0e\u3055\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6442\u98df\u30fb\u6804\u990a\u652f\u63f4: \u547c\u5438\u969c\u5bb3\u306b\u4f34\u3044\u54fa\u4e73\u30fb\u56a5\u4e0b\u304c\u96e3\u3057\u3044\u5834\u5408\u3001\u7d4c\u7ba1\u6804\u990a\u306b\u3088\u308b\u30b5\u30dd\u30fc\u30c8\u304c\u6210\u9577\u3092\u652f\u3048\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u767a\u9054\u652f\u63f4: \u5168\u822c\u7684\u306a\u767a\u9054\u306e\u9045\u308c\u304c\u898b\u3089\u308c\u308b\u4f8b\u304c\u591a\u304f\u3001\u65e9\u671f\u304b\u3089\u306e\u7406\u5b66\u7642\u6cd5\uff08PT\uff09\u3084\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2026\/01\/34023712_s.webp\" alt=\"\u533b\u8005\" class=\"wp-image-121690\"\/><\/figure><\/div>\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%BA%88%E5%BE%8C%E3%83%BB%E4%BB%8A%E5%BE%8C%E3%81%AE%E5%B1%95%E6%9C%9B\"><\/span><strong>\u4e88\u5f8c\u30fb\u4eca\u5f8c\u306e\u5c55\u671b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>Chitayat\u75c7\u5019\u7fa4\u306e\u9577\u671f\u7684\u306a\u4e88\u5f8c\u306f\u3001\u5831\u544a\u4f8b\u304c\u4e16\u754c\u306713\u301c16\u4f8b\u7a0b\u5ea6\u3068\u9650\u3089\u308c\u3066\u3044\u308b\u305f\u3081\u3001\u307e\u3060\u5341\u5206\u306b\u306f\u89e3\u660e\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002<\/strong>\u305d\u308c\u3067\u3082\u3001\u4e73\u5150\u671f\u306e\u547c\u5438\u5668\u7ba1\u7406\u3092\u9069\u5207\u306b\u4e57\u308a\u8d8a\u3048\u308b\u3053\u3068\u3067\u3001\u767a\u9054\u652f\u63f4\u3092\u53d7\u3051\u306a\u304c\u3089\u5b89\u5b9a\u3057\u305f\u751f\u6d3b\u3092\u9001\u3063\u3066\u3044\u308b\u4f8b\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u73fe\u5834\u3067\u306f\u3001\u6975\u3081\u3066\u5e0c\u5c11\u306a\u75be\u60a3\u307b\u3069\u8a3a\u65ad\u307e\u3067\u306b\u6642\u9593\u304c\u304b\u304b\u308a\u3001\u3054\u5bb6\u65cf\u306e\u4e0d\u5b89\u304c\u52df\u308b\u5834\u9762\u3092\u6570\u591a\u304f\u898b\u3066\u304d\u307e\u3057\u305f\u3002\u8a3a\u65ad\u304c\u3064\u3044\u305f\u3042\u3068\u3082\u3001\u75c7\u4f8b\u306e\u84c4\u7a4d\u304c\u5c11\u306a\u3044\u3076\u3093\u898b\u901a\u3057\u3092\u7acb\u3066\u306b\u304f\u3044\u9762\u304c\u3042\u308a\u307e\u3059\u3002\u56fd\u5185\u5916\u306e\u75c7\u4f8b\u5831\u544a\u306e\u5171\u6709\u304c\u9032\u3080\u3053\u3068\u3067\u3001\u3088\u308a\u78ba\u304b\u306a\u60c5\u5831\u306b\u8fd1\u3065\u3044\u3066\u3044\u304f\u306f\u305a\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\u3001ERF\u306e\u3088\u3046\u306a\u5358\u4e00\u907a\u4f1d\u5b50\u304c\u95a2\u308f\u308b\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\u308a\u307e\u3059\u3002\u3060\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\u7d50\u679c\u306b\u5fdc\u3058\u3066<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\u3002ERF\u907a\u4f1d\u5b50\u304c\u95a2\u308f\u308bChitayat\u75c7\u5019\u7fa4\u306e\u3088\u3046\u306a\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u3092\u5e45\u5e83\u304f\u8abf\u3079\u305f\u3044\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>\u5e0c\u5c11\u75be\u60a3\u306b\u3064\u3044\u3066\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\u5834\u3067\u300c\u805e\u3044\u305f\u3053\u3068\u306e\u306a\u3044\u75c5\u540d\u306b\u6238\u60d1\u3046\u300d\u3068\u3044\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>\u3069\u3093\u306a\u691c\u67fb\u306b\u3082\u3001\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\u3001\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_Chitayat%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. Chitayat\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>ERF\u907a\u4f1d\u5b50\u306e\u7279\u5b9a\u306e\u518d\u767a\u6027\u5909\u7570\uff08p.Tyr89Cys\uff09\u304c\u539f\u56e0\u3067\u8d77\u3053\u308b\u3001\u6975\u3081\u3066\u5e0c\u5c11\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002\u793a\u6307\u306e\u9aa8\u683c\u7570\u5e38\u3001\u5916\u53cd\u6bcd\u8dbe\u3001\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u3001\u51fa\u751f\u76f4\u5f8c\u304b\u3089\u306e\u547c\u5438\u5668\u75c7\u72b6\u3092\u7279\u5fb4\u3068\u3057\u3001\u4e16\u754c\u3067\u306e\u5831\u544a\u4f8b\u306f13\u301c16\u4f8b\u7a0b\u5ea6\u306b\u3068\u3069\u307e\u308a\u307e\u3059\u30021992\u5e74\u306bChitayat\u3089\u304c\u521d\u3081\u3066\u5831\u544a\u3057\u30012016\u5e74\u306b\u539f\u56e0\u907a\u4f1d\u5b50\u304c\u7279\u5b9a\u3055\u308c\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_%E3%81%A9%E3%82%93%E3%81%AA%E7%97%87%E7%8A%B6%E3%81%8C%E3%81%82%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span><strong>Q. \u3069\u3093\u306a\u75c7\u72b6\u304c\u3042\u308a\u307e\u3059\u304b\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5927\u304d\u304f\u5206\u3051\u3066\u4e09\u3064\u306e\u7279\u5fb4\u304c\u3042\u308a\u307e\u3059\u3002\u624b\u6307\u3067\u306f\u793a\u6307\u306e\u526f\u6307\u9aa8\u306b\u3088\u308b\u77ed\u7e2e\u3068\u5916\u53cd\u6bcd\u8dbe\u3001\u547c\u5438\u5668\u3067\u306f\u6c17\u7ba1\u8edf\u5316\u75c7\u30fb\u6c17\u7ba1\u652f\u8edf\u5316\u75c7\u306b\u3088\u308b\u547c\u5438\u56f0\u96e3\u3001\u9854\u8c8c\u3067\u306f\u773c\u9593\u958b\u5927\u3084\u5927\u6cc9\u9580\u958b\u5927\u3001\u4f4e\u3044\u9f3b\u6881\u306a\u3069\u3067\u3059\u3002\u75c7\u72b6\u306e\u7a0b\u5ea6\u306b\u306f\u500b\u4eba\u5dee\u304c\u5927\u304d\u304f\u3001\u3059\u3079\u3066\u306e\u7279\u5fb4\u304c\u305d\u308d\u308f\u306a\u3044\u4f8b\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_%E9%A0%AD%E8%93%8B%E9%AA%A8%E7%B8%AB%E5%90%88%E6%97%A9%E6%9C%9F%E7%99%92%E5%90%88%E7%97%874%E5%9E%8B%E3%81%A8%E3%81%AF%E9%81%95%E3%81%86%E7%97%85%E6%B0%97%E3%81%A7%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span><strong>Q. \u982d\u84cb\u9aa8\u7e2b\u5408\u65e9\u671f\u7652\u5408\u75c74\u578b\u3068\u306f\u9055\u3046\u75c5\u6c17\u3067\u3059\u304b\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u306f\u3044\u3001\u539f\u56e0\u907a\u4f1d\u5b50\u306f\u540c\u3058ERF\u3067\u3059\u304c\u5225\u306e\u75c5\u6c17\u3067\u3059\u3002\u982d\u84cb\u9aa8\u7e2b\u5408\u65e9\u671f\u7652\u5408\u75c74\u578b\u306f\u591a\u69d8\u306a\u6a5f\u80fd\u55aa\u5931\u578b\u5909\u7570\u306b\u3088\u308a\u982d\u84cb\u7e2b\u5408\u304c\u65e9\u304f\u56fa\u307e\u308b\u306e\u306b\u5bfe\u3057\u3001Chitayat\u75c7\u5019\u7fa4\u306f\u7279\u5b9a\u306e\u5909\u7570\u306b\u9650\u3089\u308c\u3001\u982d\u84cb\u7e2b\u5408\u65e9\u671f\u7652\u5408\u306e\u5831\u544a\u4f8b\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u793a\u6307\u306e\u9aa8\u683c\u7570\u5e38\u3084\u547c\u5438\u5668\u75c7\u72b6\u3068\u3044\u3046\u3001\u982d\u84cb\u9aa8\u7e2b\u5408\u65e9\u671f\u7652\u5408\u75c74\u578b\u306b\u306f\u306a\u3044\u7279\u5fb4\u3092\u6301\u3061\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AB%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><strong>Q. \u3069\u306e\u3088\u3046\u306b\u8a3a\u65ad\u3055\u308c\u307e\u3059\u304b\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u624b\u3068\u8db3\u306eX\u7dda\u691c\u67fb\u3067\u9aa8\u683c\u306e\u7279\u5fb4\u3092\u78ba\u8a8d\u3057\u305f\u3046\u3048\u3067\u3001\u907a\u4f1d\u5b50\u30d1\u30cd\u30eb\u89e3\u6790\u3084\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u3067ERF\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3092\u540c\u5b9a\u3057\u307e\u3059\u3002\u547c\u5438\u5668\u75c7\u72b6\u306b\u3064\u3044\u3066\u306f\u6c17\u7ba1\u652f\u93e1\u691c\u67fb\u3067\u6c17\u7ba1\u8edf\u5316\u75c7\u30fb\u6c17\u7ba1\u652f\u8edf\u5316\u75c7\u306e\u7a0b\u5ea6\u3092\u8a55\u4fa1\u3057\u307e\u3059\u3002\u8907\u6570\u306e\u6240\u898b\u3092\u7d44\u307f\u5408\u308f\u305b\u3066\u7dcf\u5408\u7684\u306b\u5224\u65ad\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_%E9%81%BA%E4%BC%9D%E5%BD%A2%E5%BC%8F%E3%81%AF%EF%BC%9F%E4%B8%A1%E8%A6%AA%E3%81%AE%E7%94%9F%E6%B4%BB%E7%BF%92%E6%85%A3%E3%81%8C%E5%8E%9F%E5%9B%A0%E3%81%AB%E3%81%AA%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span><strong>Q. \u907a\u4f1d\u5f62\u5f0f\u306f\uff1f\u4e21\u89aa\u306e\u751f\u6d3b\u7fd2\u6163\u304c\u539f\u56e0\u306b\u306a\u308a\u307e\u3059\u304b\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5e38\u67d3\u8272\u4f53\u9855\u6027\u907a\u4f1d\u306e\u5f62\u5f0f\u3092\u3068\u308a\u307e\u3059\u3002\u591a\u304f\u306f\u4e21\u89aa\u306b\u5909\u5316\u304c\u306a\u3044\u65b0\u751f\u5909\u7570\uff08\u5b64\u767a\u4f8b\uff09\u3068\u3057\u3066\u767a\u75c7\u3057\u307e\u3059\u304c\u3001\u7f79\u60a3\u3057\u305f\u89aa\u304b\u3089\u5b50\u3078\u53d7\u3051\u7d99\u304c\u308c\u305f\u5bb6\u7cfb\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u598a\u5a20\u4e2d\u306e\u751f\u6d3b\u7fd2\u6163\u3084\u30b9\u30c8\u30ec\u30b9\u304c\u539f\u56e0\u306b\u306a\u308b\u3082\u306e\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u8ab0\u304b\u306e\u305b\u3044\u3067\u8d77\u3053\u308b\u75c5\u6c17\u3067\u306f\u306a\u3044\u70b9\u3092\u77e5\u3063\u3066\u304a\u3044\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_NIPT%E3%81%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\u3001ERF\u306e\u3088\u3046\u306a\u5358\u4e00\u907a\u4f1d\u5b50\u304c\u95a2\u308f\u308b\u75c5\u6c17\u306f\u691c\u67fb\u5bfe\u8c61\u306b\u542b\u307e\u308c\u306a\u3044\u305f\u3081\u3067\u3059\u3002\u6c17\u306b\u306a\u308b\u5834\u5408\u306f\u3001\u81ea\u5df1\u5224\u65ad\u3067\u62b1\u3048\u8fbc\u307e\u305a\u3001\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<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    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href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/27738187\/\" target=\"_blank\" rel=\"noopener\">Balasubramanian et al., ERF\u907a\u4f1d\u5b50\u3068Chitayat\u75c7\u5019\u7fa4\u306b\u95a2\u3059\u308b\u539f\u8457\u8ad6\u6587\uff08PubMed\uff09<\/a>\u3001<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC6352852\/\" target=\"_blank\" rel=\"noopener\">Chitayat\u75c7\u5019\u7fa4\u306e\u653e\u5c04\u7dda\u5b66\u7684\u6240\u898b\u306b\u95a2\u3059\u308b\u75c7\u4f8b\u5831\u544a\uff08PMC\uff09<\/a>\u3001<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/gtr\/conditions\/C4310679\/\" target=\"_blank\" rel=\"noopener\">Chitayat syndrome\uff08NIH Genetic Testing Registry\uff09<\/a>\u3001<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/RCV000258152.4\/\" target=\"_blank\" rel=\"noopener\">ERF\u907a\u4f1d\u5b50\u5909\u7570\u306e\u767b\u9332\u60c5\u5831\uff08ClinVar\uff09<\/a>\u3001<a href=\"https:\/\/www.nanbyou.or.jp\/entry\/5491\" target=\"_blank\" 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