{"id":122428,"date":"2026-01-13T15:54:44","date_gmt":"2026-01-13T06:54:44","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=122428"},"modified":"2026-07-27T05:59:08","modified_gmt":"2026-07-26T20:59:08","slug":"saddan-syndrome-guide","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/saddan-syndrome-guide\/","title":{"rendered":"SADDAN\uff08\u30b5\u30c0\u30f3\uff09"},"content":{"rendered":"\n<p><strong>SADDAN\u306f\u3001\u8edf\u9aa8\u7121\u5f62\u6210\u75c7\u3068\u540c\u3058FGFR3\u907a\u4f1d\u5b50\u306e\u5909\u5316\u306b\u3088\u3063\u3066\u8d77\u3053\u308b\u3001\u6975\u3081\u3066\u7a00\u306a\u9aa8\u7cfb\u7d71\u75be\u60a3\u3067\u3059\u3002<\/strong>\u9aa8\u306e\u6210\u9577\u3001\u8133\u306e\u767a\u9054\u3001\u76ae\u819a\u306e\u72b6\u614b\u306b\u7279\u5fb4\u304c\u73fe\u308c\u307e\u3059\u304c\u3001\u4ee5\u524d\u8003\u3048\u3089\u308c\u3066\u3044\u305f\u3088\u308a\u3082\u9577\u671f\u306e\u751f\u5b58\u3068\u304a\u5b50\u69d8\u306a\u308a\u306e\u6210\u9577\u304c\u53ef\u80fd\u3067\u3042\u308b\u3053\u3068\u304c\u3001\u8fd1\u5e74\u308f\u304b\u3063\u3066\u304d\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u304a\u5b50\u69d8\u304c\u300cSADDAN\uff08\u30b5\u30c0\u30f3\uff09\u300d\u3001\u3042\u308b\u3044\u306f\u300cSADDAN\u7570\u5f62\u6210\u75c7\u300d\u3068\u3044\u3046\u8a3a\u65ad\u3092\u53d7\u3051\u305f\u3068\u304d\u3001\u805e\u304d\u6163\u308c\u306a\u3044\u75c5\u540d\u306b\u6238\u60d1\u3044\u3001\u5927\u304d\u306a\u4e0d\u5b89\u3092\u611f\u3058\u3089\u308c\u305f\u3053\u3068\u3067\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<p>\u300c\u9aa8\u306e\u75c5\u6c17\u306a\u306e\uff1f\u300d\u300c\u767a\u9054\u306b\u9045\u308c\u304c\u51fa\u308b\u306e\uff1f\u300d\u300c\u76ae\u819a\u306e\u75c7\u72b6\u3063\u3066\u4f55\uff1f\u300d<\/p>\n\n\n\n<p>\u30a4\u30f3\u30bf\u30fc\u30cd\u30c3\u30c8\u3067\u691c\u7d22\u3057\u3066\u3082\u3001\u975e\u5e38\u306b\u7a00\u306a\u75be\u60a3\u3067\u3042\u308b\u305f\u3081\u65e5\u672c\u8a9e\u306e\u8a73\u3057\u3044\u60c5\u5831\u306f\u307b\u3068\u3093\u3069\u898b\u3064\u304b\u308a\u307e\u305b\u3093\u3002\u5c02\u9580\u7684\u306a\u82f1\u8a9e\u306e\u8ad6\u6587\u3070\u304b\u308a\u304c\u51fa\u3066\u304d\u3066\u3001\u9014\u65b9\u306b\u66ae\u308c\u3066\u3044\u308b\u65b9\u3082\u3044\u3089\u3063\u3057\u3083\u308b\u3067\u3057\u3087\u3046\u3002\u79c1\u81ea\u8eab\u3001\u3053\u308c\u307e\u3067\u306e\u8a3a\u7642\u306e\u306a\u304b\u3067\u3001\u6975\u3081\u3066\u7a00\u306a\u9aa8\u7cfb\u7d71\u75be\u60a3\u306e\u8a3a\u65ad\u3092\u53d7\u3051\u305f\u3054\u5bb6\u65cf\u304b\u3089\u3001\u540c\u3058\u3088\u3046\u306a\u6238\u60d1\u3044\u3084\u4e0d\u5b89\u306e\u304a\u58f0\u3092\u4f3a\u3063\u3066\u304d\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<p>\u540d\u524d\u304c\u5c11\u3057\u6016\u3044\u97ff\u304d\u3092\u6301\u3063\u3066\u3044\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u304c\u3001\u3053\u308c\u306f\u82f1\u8a9e\u306e\u75c7\u72b6\u306e\u982d\u6587\u5b57\u3092\u3068\u3063\u305f\u3082\u306e\u3067\u3059\u3002\u3053\u306e\u75c5\u6c17\u306f\u3001\u8edf\u9aa8\u7121\u5f62\u6210\u75c7\uff08\u30a2\u30b3\u30f3\u30c9\u30ed\u30d7\u30e9\u30b8\u30a2\uff09\u3068\u540c\u3058\u300cFGFR3\u300d\u3068\u3044\u3046\u907a\u4f1d\u5b50\u306e\u5909\u5316\u3067\u8d77\u304d\u307e\u3059\u3002\u305f\u3060\u3057\u3001\u8edf\u9aa8\u7121\u5f62\u6210\u75c7\u3088\u308a\u3082\u9aa8\u3084\u767a\u9054\u3078\u306e\u5f71\u97ff\u304c\u5f37\u3044\u3068\u3044\u3046\u7279\u5fb4\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u304b\u3064\u3066\u300c\u81f4\u6b7b\u6027\u300d\u3068\u547c\u3070\u308c\u305f\u75be\u60a3\u7fa4\u3068\u306f\u7570\u306a\u308a\u307e\u3059\u3002\u9069\u5207\u306a\u533b\u7642\u30b1\u30a2\u3092\u53d7\u3051\u308b\u3053\u3068\u3067\u3001\u9577\u671f\u306e\u751f\u5b58\u304c\u53ef\u80fd\u3067\u3042\u308a\u3001\u6210\u9577\u3057\u3066\u3044\u304f\u304a\u5b50\u69d8\u305f\u3061\u304c\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"border:1px solid #f0d0dc;border-radius:12px;padding:1.2em 1.4em;margin:1.5rem 0 2rem;background:#fffafc;\">\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>SADDAN\u306e\u539f\u56e0\u3068\u306a\u308bFGFR3\u907a\u4f1d\u5b50\u306e\u5909\u7570\uff08K650M\uff09\u3068\u3001\u8edf\u9aa8\u7121\u5f62\u6210\u75c7\u30fb\u81f4\u6b7b\u6027\u9aa8\u7570\u5f62\u6210\u75c7\u3068\u306e\u95a2\u4fc2<\/li>\n<li>\u9aa8\u683c\u30fb\u795e\u7d4c\u767a\u9054\u30fb\u76ae\u819a\u30fb\u547c\u5438\u5668\u306b\u3042\u3089\u308f\u308c\u308b\u4e3b\u306a\u75c7\u72b6<\/li>\n<li>\u8a3a\u65ad\u306e\u9032\u3081\u65b9\u3068\u3001\u547c\u5438\u7ba1\u7406\u3092\u4e2d\u5fc3\u3068\u3057\u305f\u6cbb\u7642\u30fb\u7642\u80b2\u306e\u30ed\u30fc\u30c9\u30de\u30c3\u30d7<\/li>\n<li>\u9577\u671f\u751f\u5b58\u306e\u898b\u901a\u3057\u3068\u3001\u65e5\u5e38\u751f\u6d3b\u3067\u5927\u5207\u306b\u3057\u305f\u3044\u8996\u70b9<\/li>\n<li>\u4e00\u822c\u7684\u306aNIPT\uff08\u65b0\u578b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\uff09\u3067\u308f\u304b\u308b\u7bc4\u56f2\u306e\u9650\u754c<\/li>\n<\/ul>\n<\/div>\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<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_85 counter-hierarchy ez-toc-counter ez-toc-grey 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\u9aa8\u683c\u306e\u7279\u5fb4\uff08\u91cd\u5ea6\u8edf\u9aa8\u7121\u5f62\u6210\u75c7\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\/saddan-syndrome-guide\/#2_%E7%A5%9E%E7%B5%8C%E3%83%BB%E7%99%BA%E9%81%94%E3%81%AE%E7%89%B9%E5%BE%B4\" >2. \u795e\u7d4c\u30fb\u767a\u9054\u306e\u7279\u5fb4<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/saddan-syndrome-guide\/#3_%E7%9A%AE%E8%86%9A%E3%81%AE%E7%89%B9%E5%BE%B4%EF%BC%88%E9%BB%92%E8%89%B2%E8%A1%A8%E7%9A%AE%E8%85%AB%EF%BC%89\" >3. \u76ae\u819a\u306e\u7279\u5fb4\uff08\u9ed2\u8272\u8868\u76ae\u816b\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/saddan-syndrome-guide\/#4_%E5%91%BC%E5%90%B8%E5%99%A8%E3%81%AE%E7%97%87%E7%8A%B6\" >4. \u547c\u5438\u5668\u306e\u75c7\u72b6<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/saddan-syndrome-guide\/#%E5%8E%9F%E5%9B%A0%EF%BC%9A%E3%81%AA%E3%81%9C%E8%B5%B7%E3%81%8D%E3%81%9F%E3%81%AE%E3%81%8B\" >\u539f\u56e0\uff1a\u306a\u305c\u8d77\u304d\u305f\u306e\u304b<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/saddan-syndrome-guide\/#FGFR3%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AE%E7%89%B9%E5%AE%9A%E3%81%AE%E5%A4%89%E7%95%B0\" >FGFR3\u907a\u4f1d\u5b50\u306e\u7279\u5b9a\u306e\u5909\u7570<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/saddan-syndrome-guide\/#%E7%AA%81%E7%84%B6%E5%A4%89%E7%95%B0%EF%BC%88de_novo%E5%A4%89%E7%95%B0%EF%BC%89\" >\u7a81\u7136\u5909\u7570\uff08de novo\u5909\u7570\uff09<\/a><\/li><\/ul><\/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\/saddan-syndrome-guide\/#%E8%A8%BA%E6%96%AD%E3%81%A8%E6%A4%9C%E6%9F%BB\" >\u8a3a\u65ad\u3068\u691c\u67fb<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-13\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/saddan-syndrome-guide\/#1_%E8%BA%AB%E4%BD%93%E8%A8%BA%E5%AF%9F\" >1. \u8eab\u4f53\u8a3a\u5bdf<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/saddan-syndrome-guide\/#2_%E7%94%BB%E5%83%8F%E6%A4%9C%E6%9F%BB%EF%BC%88%E3%83%AC%E3%83%B3%E3%83%88%E3%82%B2%E3%83%B3%E3%83%BBMRI%EF%BC%89\" >2. \u753b\u50cf\u691c\u67fb\uff08\u30ec\u30f3\u30c8\u30b2\u30f3\u30fbMRI\uff09<\/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\/saddan-syndrome-guide\/#3_%E9%81%BA%E4%BC%9D%E5%AD%A6%E7%9A%84%E6%A4%9C%E6%9F%BB%EF%BC%88%E7%A2%BA%E5%AE%9A%E8%A8%BA%E6%96%AD%EF%BC%89\" >3. \u907a\u4f1d\u5b66\u7684\u691c\u67fb\uff08\u78ba\u5b9a\u8a3a\u65ad\uff09<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/saddan-syndrome-guide\/#%E6%B2%BB%E7%99%82%E3%81%A8%E7%AE%A1%E7%90%86%EF%BC%9A%E3%81%93%E3%82%8C%E3%81%8B%E3%82%89%E3%81%AE%E3%83%AD%E3%83%BC%E3%83%89%E3%83%9E%E3%83%83%E3%83%97\" >\u6cbb\u7642\u3068\u7ba1\u7406\uff1a\u3053\u308c\u304b\u3089\u306e\u30ed\u30fc\u30c9\u30de\u30c3\u30d7<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/saddan-syndrome-guide\/#1_%E5%91%BC%E5%90%B8%E7%AE%A1%E7%90%86%EF%BC%88%E7%94%9F%E5%91%BD%E3%82%92%E5%AE%88%E3%82%8B%E3%81%9F%E3%82%81%E3%81%AB%EF%BC%89\" >1. \u547c\u5438\u7ba1\u7406\uff08\u751f\u547d\u3092\u5b88\u308b\u305f\u3081\u306b\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-18\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/saddan-syndrome-guide\/#2_%E7%A5%9E%E7%B5%8C%E3%83%BB%E8%84%B3%E5%A4%96%E7%A7%91%E7%9A%84%E7%AE%A1%E7%90%86\" >2. \u795e\u7d4c\u30fb\u8133\u5916\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-19\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/saddan-syndrome-guide\/#3_%E6%95%B4%E5%BD%A2%E5%A4%96%E7%A7%91%E7%9A%84%E7%AE%A1%E7%90%86\" >3. \u6574\u5f62\u5916\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\/saddan-syndrome-guide\/#4_%E7%99%BA%E9%81%94%E3%83%BB%E7%99%82%E8%82%B2%E3%82%B5%E3%83%9D%E3%83%BC%E3%83%88%EF%BC%88%E3%83%8F%E3%83%93%E3%83%AA%E3%83%86%E3%83%BC%E3%82%B7%E3%83%A7%E3%83%B3%EF%BC%89\" >4. \u767a\u9054\u30fb\u7642\u80b2\u30b5\u30dd\u30fc\u30c8\uff08\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-21\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/saddan-syndrome-guide\/#5_%E7%9A%AE%E8%86%9A%E3%81%AE%E3%82%B1%E3%82%A2\" >5. \u76ae\u819a\u306e\u30b1\u30a2<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-22\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/saddan-syndrome-guide\/#%E4%BA%88%E5%BE%8C%E3%81%A8%E7%94%9F%E6%B4%BB%E3%81%AB%E3%81%A4%E3%81%84%E3%81%A6\" >\u4e88\u5f8c\u3068\u751f\u6d3b\u306b\u3064\u3044\u3066<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-23\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/saddan-syndrome-guide\/#SADDAN%E3%81%A8%E5%87%BA%E7%94%9F%E5%89%8D%E8%A8%BA%E6%96%AD%EF%BC%88NIPT%EF%BC%89%E3%81%A7%E3%82%8F%E3%81%8B%E3%82%8B%E7%AF%84%E5%9B%B2\" >SADDAN\u3068\u51fa\u751f\u524d\u8a3a\u65ad\uff08NIPT\uff09\u3067\u308f\u304b\u308b\u7bc4\u56f2<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-24\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/saddan-syndrome-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-25\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/saddan-syndrome-guide\/#Q_%E5%AF%BF%E5%91%BD%E3%81%AF%E3%81%A9%E3%81%AE%E3%81%8F%E3%82%89%E3%81%84%E3%81%A7%E3%81%99%E3%81%8B%EF%BC%9F\" >Q. \u5bff\u547d\u306f\u3069\u306e\u304f\u3089\u3044\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-26\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/saddan-syndrome-guide\/#Q_%E6%AD%A9%E3%81%91%E3%82%8B%E3%82%88%E3%81%86%E3%81%AB%E3%81%AA%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\" >Q. \u6b69\u3051\u308b\u3088\u3046\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-27\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/saddan-syndrome-guide\/#Q_%E6%AC%A1%E3%81%AE%E5%AD%90%E3%81%AB%E9%81%BA%E4%BC%9D%E3%81%97%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\" >Q. \u6b21\u306e\u5b50\u306b\u907a\u4f1d\u3057\u307e\u3059\u304b\uff1f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-28\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/saddan-syndrome-guide\/#Q_SADDAN%E3%81%AF%E5%87%BA%E7%94%9F%E5%89%8D%E8%A8%BA%E6%96%AD%EF%BC%88NIPT%EF%BC%89%E3%81%A7%E3%82%8F%E3%81%8B%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\" >Q. SADDAN\u306f\u51fa\u751f\u524d\u8a3a\u65ad\uff08NIPT\uff09\u3067\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-29\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/saddan-syndrome-guide\/#Q_%E8%BB%9F%E9%AA%A8%E7%84%A1%E5%BD%A2%E6%88%90%E7%97%87%E3%82%84%E8%87%B4%E6%AD%BB%E6%80%A7%E9%AA%A8%E7%95%B0%E5%BD%A2%E6%88%90%E7%97%87%E3%81%A8%E3%81%AF%E3%81%A9%E3%81%86%E9%81%95%E3%81%84%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\" >Q. \u8edf\u9aa8\u7121\u5f62\u6210\u75c7\u3084\u81f4\u6b7b\u6027\u9aa8\u7570\u5f62\u6210\u75c7\u3068\u306f\u3069\u3046\u9055\u3044\u307e\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\/saddan-syndrome-guide\/#%E3%81%BE%E3%81%A8%E3%82%81\" >\u307e\u3068\u3081<\/a><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%A6%82%E8%A6%81%EF%BC%9A%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E7%97%85%E6%B0%97%E3%81%8B\"><\/span><strong>\u6982\u8981\uff1a\u3069\u306e\u3088\u3046\u306a\u75c5\u6c17\u304b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>SADDAN\u306f\u3001\u751f\u307e\u308c\u3064\u304d\u9aa8\u306e\u6210\u9577\u306b\u969c\u5bb3\u304c\u8d77\u3053\u308b\u300c\u9aa8\u7cfb\u7d71\u75be\u60a3\uff08\u3053\u3064\u3051\u3044\u3068\u3046\u3057\u3063\u304b\u3093\uff09\u300d\u306e\u4e00\u3064\u3067\u3059\u3002<\/strong>\u975e\u5e38\u306b\u9577\u3044\u6b63\u5f0f\u540d\u79f0\u306e\u982d\u6587\u5b57\u3092\u3068\u3063\u3066\u300cSADDAN\uff08\u30b5\u30c0\u30f3\uff09\u300d\u3068\u547c\u3070\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%90%8D%E5%89%8D%E3%81%AE%E7%94%B1%E6%9D%A5%E3%81%A8%E6%84%8F%E5%91%B3\"><\/span><strong>\u540d\u524d\u306e\u7531\u6765\u3068\u610f\u5473<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3053\u306e\u75c5\u540d\u306f\u3001\u4e3b\u306a4\u3064\u306e\u7279\u5fb4\u3092\u8868\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>S\uff1aSevere Achondroplasia\uff08\u91cd\u5ea6\u8edf\u9aa8\u7121\u5f62\u6210\u75c7\uff09\u3002\u975e\u5e38\u306b\u80cc\u304c\u4f4e\u304f\u3001\u624b\u8db3\u304c\u77ed\u3044\u3068\u3044\u3046\u3001\u9aa8\u306e\u6210\u9577\u969c\u5bb3\u304c\u91cd\u5ea6\u3067\u3042\u308b\u3053\u3068\u3092\u610f\u5473\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>DD\uff1aDevelopmental Delay\uff08\u767a\u9054\u9045\u6ede\uff09\u3002\u9996\u3059\u308f\u308a\u3084\u6b69\u884c\u306a\u3069\u306e\u904b\u52d5\u767a\u9054\u3001\u304a\u3088\u3073\u8a00\u8449\u3084\u7406\u89e3\u306a\u3069\u306e\u77e5\u7684\u767a\u9054\u306b\u9045\u308c\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u3092\u610f\u5473\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>AN\uff1aAcanthosis Nigricans\uff08\u9ed2\u8272\u8868\u76ae\u816b\uff1a\u3053\u304f\u3057\u3087\u304f\u3072\u3087\u3046\u3072\u3057\u3085\uff09\u3002\u9996\u3084\u8107\u306e\u4e0b\u306a\u3069\u306e\u3057\u308f\u306e\u90e8\u5206\u304c\u3001\u9ed2\u304f\u539a\u304f\u306a\u308b\u76ae\u819a\u306e\u7279\u5fb4\u3092\u610f\u5473\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"FGFR3%E7%95%B0%E5%B8%B8%E7%97%87%E3%82%B0%E3%83%AB%E3%83%BC%E3%83%97%E3%81%AE%E4%B8%80%E3%81%A4\"><\/span><strong>FGFR3\u7570\u5e38\u75c7\u30b0\u30eb\u30fc\u30d7\u306e\u4e00\u3064<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p><strong>SADDAN\u306f\u30014\u756a\u67d3\u8272\u4f53\u306b\u3042\u308b\u300cFGFR3\uff08\u30a8\u30d5\u30fb\u30b8\u30fc\u30fb\u30a8\u30d5\u30fb\u30a2\u30fc\u30eb\u30fb\u30b9\u30ea\u30fc\uff09\u300d\u3068\u3044\u3046\u907a\u4f1d\u5b50\u306e\u5909\u5316\u306b\u3088\u3063\u3066\u8d77\u3053\u308a\u307e\u3059\u3002<\/strong>\u540c\u3058\u907a\u4f1d\u5b50\u306e\u5909\u5316\u3067\u3082\u3001\u5909\u7570\u306e\u7a2e\u985e\u306b\u3088\u3063\u3066\u91cd\u75c7\u5ea6\u304c\u5927\u304d\u304f\u7570\u306a\u308b\u30b0\u30eb\u30fc\u30d7\u306e\u4e00\u3064\u3067\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306e\u5909\u5316\u306f\u3001\u4ed6\u306b\u3082\u3044\u304f\u3064\u304b\u306e\u75c5\u6c17\u3092\u5f15\u304d\u8d77\u3053\u3059\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8edf\u9aa8\u7121\u5f62\u6210\u75c7\uff08Achondroplasia\uff09\u306f\u3001\u6700\u3082\u4e00\u822c\u7684\u306a\u9aa8\u7cfb\u7d71\u75be\u60a3\u3067\u3059\u3002\u77e5\u80fd\u306f\u6b63\u5e38\u306a\u3053\u3068\u304c\u591a\u3044\u30bf\u30a4\u30d7\u3067\u3059\u3002\u81f4\u6b7b\u6027\u9aa8\u7570\u5f62\u6210\u75c7\uff08Thanatophoric Dysplasia\uff09\u306f\u3001\u9aa8\u306e\u75c7\u72b6\u304c\u6700\u3082\u91cd\u304f\u3001\u547c\u5438\u969c\u5bb3\u304c\u5f37\u3044\u30bf\u30a4\u30d7\u3067\u3059\u3002<\/p>\n\n\n\n<p>SADDAN\u306f\u3001\u9aa8\u306e\u75c7\u72b6\u304c\u4e0a\u8a182\u3064\u306e\u4e2d\u9593\u304b\u3089\u3088\u308a\u91cd\u5ea6\u3067\u3059\u3002\u304b\u3064\u300c\u767a\u9054\u306e\u9045\u308c\u300d\u3068\u300c\u76ae\u819a\u75c7\u72b6\u300d\u3092\u5408\u4f75\u3059\u308b\u306e\u304c\u6700\u5927\u306e\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3064\u307e\u308a\u3001SADDAN\u306f\u300c\u9aa8\u306e\u75c7\u72b6\u304c\u5f37\u304f\u3001\u304b\u3064\u767a\u9054\u306e\u30b5\u30dd\u30fc\u30c8\u304c\u5fc5\u8981\u306a\u30bf\u30a4\u30d7\u300d\u3068\u7406\u89e3\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u305d\u308c\u305e\u308c\u306e\u7279\u5fb4\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/achondroplasia-causes-symptoms-treatment\/\">\u8edf\u9aa8\u7121\u5f62\u6210\u75c7\u306e\u89e3\u8aac\u8a18\u4e8b<\/a>\u3084\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/thanatophoric-dysplasia-type1-guide\/\">\u81f4\u6b7b\u6027\u9aa8\u7570\u5f62\u6210\u75c71\u578b\uff08TD1\uff09<\/a>\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/thanatophoric-dysplasia-type2-guide\/\">\u81f4\u6b7b\u6027\u9aa8\u7570\u5f62\u6210\u75c72\u578b\uff08TD2\uff09<\/a>\u306e\u89e3\u8aac\u3067\u3082\u8a73\u3057\u304f\u7d39\u4ecb\u3057\u3066\u3044\u307e\u3059\u3002\u3042\u308f\u305b\u3066\u8aad\u3080\u3068\u3001FGFR3\u95a2\u9023\u75be\u60a3\u306e\u5168\u4f53\u50cf\u304c\u3064\u304b\u307f\u3084\u3059\u304f\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<figure class=\"wp-block-table\"><table><thead><tr><th>\u75be\u60a3<\/th><th>\u9aa8\u75c7\u72b6\u306e\u91cd\u3055<\/th><th>\u77e5\u7684\u767a\u9054<\/th><th>\u76ae\u819a\u75c7\u72b6<\/th><\/tr><\/thead><tbody><tr><td>\u8edf\u9aa8\u7121\u5f62\u6210\u75c7<\/td><td>\u8efd\u5ea6\u301c\u4e2d\u7b49\u5ea6<\/td><td>\u591a\u304f\u306f\u6b63\u5e38<\/td><td>\u306a\u3057<\/td><\/tr><tr><td>SADDAN<\/td><td>\u4e2d\u7b49\u5ea6\u301c\u91cd\u5ea6<\/td><td>\u91cd\u5ea6\u306e\u9045\u308c\u304c\u591a\u3044<\/td><td>\u9ed2\u8272\u8868\u76ae\u816b\u3042\u308a<\/td><\/tr><tr><td>\u81f4\u6b7b\u6027\u9aa8\u7570\u5f62\u6210\u75c7<\/td><td>\u6700\u91cd\u5ea6<\/td><td>\u5468\u7523\u671f\u306e\u751f\u547d\u4e88\u5f8c\u304c\u6700\u3082\u53b3\u3057\u3044<\/td><td>\u306a\u3057<\/td><\/tr><\/tbody><\/table><figcaption>\u3044\u305a\u308c\u3082FGFR3\u907a\u4f1d\u5b50\u306e\u5909\u5316\u304c\u539f\u56e0\u3067\u3059\u304c\u3001\u5909\u7570\u306e\u7a2e\u985e\u306b\u3088\u3063\u3066\u73fe\u308c\u65b9\u304c\u7570\u306a\u308a\u307e\u3059\uff08\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059\uff09\u3002<\/figcaption><\/figure>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%B8%BB%E3%81%AA%E7%97%87%E7%8A%B6\"><\/span><strong>\u4e3b\u306a\u75c7\u72b6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>SADDAN\u306e\u75c7\u72b6\u306f\u3001\u9aa8\u683c\u30fb\u795e\u7d4c\u767a\u9054\u30fb\u76ae\u819a\u30fb\u547c\u5438\u5668\u306a\u3069\u5168\u8eab\u306b\u73fe\u308c\u3001\u751f\u307e\u308c\u3066\u3059\u3050\u306e\u6642\u671f\u304b\u3089\u6c17\u3065\u304b\u308c\u308b\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\u3059\u3002<\/strong><\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E9%AA%A8%E6%A0%BC%E3%81%AE%E7%89%B9%E5%BE%B4%EF%BC%88%E9%87%8D%E5%BA%A6%E8%BB%9F%E9%AA%A8%E7%84%A1%E5%BD%A2%E6%88%90%E7%97%87%EF%BC%89\"><\/span><strong>1. \u9aa8\u683c\u306e\u7279\u5fb4\uff08\u91cd\u5ea6\u8edf\u9aa8\u7121\u5f62\u6210\u75c7\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u751f\u307e\u308c\u305f\u6642\u304b\u3089\u3001\u3042\u308b\u3044\u306f\u80ce\u5150\u671f\u306e\u30a8\u30b3\u30fc\u691c\u67fb\u3067\u6c17\u3065\u304b\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u8457\u3057\u3044\u4f4e\u8eab\u9577\u3068\u56db\u80a2\u77ed\u7e2e\u3002\u624b\u8db3\u3001\u7279\u306b\u8155\u306e\u4ed8\u3051\u6839\uff08\u4e0a\u8155\uff09\u3084\u592a\u3082\u3082\u306e\u4ed8\u3051\u6839\uff08\u5927\u817f\uff09\u304c\u975e\u5e38\u306b\u77ed\u304f\u3001\u80f4\u4f53\u306e\u9577\u3055\u306b\u6bd4\u3079\u3066\u624b\u8db3\u304c\u77ed\u3044\u305f\u3081\u3001\u5168\u4f53\u7684\u306b\u5c0f\u67c4\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5927\u817f\u9aa8\u306e\u6e7e\u66f2\uff08\u53d7\u8a71\u5668\u69d8\u5909\u5f62\uff09\u3002\u592a\u3082\u3082\u306e\u9aa8\uff08\u5927\u817f\u9aa8\uff09\u304c\u5f37\u304f\u66f2\u304c\u3063\u3066\u304a\u308a\u3001\u30ec\u30f3\u30c8\u30b2\u30f3\u3067\u306f\u6614\u306e\u96fb\u8a71\u306e\u53d7\u8a71\u5668\u306e\u3088\u3046\u306b\u898b\u3048\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u306f\u81f4\u6b7b\u6027\u9aa8\u7570\u5f62\u6210\u75c71\u578b\u306b\u3082\u898b\u3089\u308c\u308b\u7279\u5fb4\u3067\u3059\u304c\u3001SADDAN\u3067\u3082\u898b\u3089\u308c\u307e\u3059\u3002\u811b\uff08\u3059\u306d\uff09\u306e\u9aa8\u3082\u66f2\u304c\u3063\u3066\u3044\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u808b\u9aa8\u306e\u77ed\u7e2e\u3068\u80f8\u90ed\u3002\u808b\u9aa8\u304c\u77ed\u3044\u305f\u3081\u3001\u80f8\u304c\u72ed\u304f\u3001\u304a\u8179\u304c\u307d\u3063\u3053\u308a\u3068\u51fa\u305f\u4f53\u578b\u306b\u306a\u308a\u307e\u3059\u3002\u80f8\u304c\u72ed\u3044\u3053\u3068\u306f\u3001\u5f8c\u8ff0\u3059\u308b\u547c\u5438\u306e\u554f\u984c\u306b\u3082\u95a2\u4fc2\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u982d\u3068\u624b\u306e\u7279\u5fb4\u3002\u982d\u304c\u5927\u304d\u304f\uff08\u5927\u982d\u75c7\uff09\u3001\u304a\u3067\u3053\u304c\u524d\u306b\u51fa\u3066\u3001\u9f3b\u306e\u4ed8\u3051\u6839\u304c\u4f4e\u3044\uff08\u978d\u9f3b\uff1a\u3042\u3093\u3073\uff09\u306e\u3082\u7279\u5fb4\u3067\u3059\u3002\u6307\u304c\u77ed\u304f\u3001\u4e2d\u6307\u3068\u85ac\u6307\u306e\u9593\u304c\u958b\u3044\u3066\u3044\u308b\u300c\u4e09\u53c9\u624b\uff08\u3055\u3093\u3055\u3057\u3085\uff09\u300d\u3068\u547c\u3070\u308c\u308b\u7279\u5fb4\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E7%A5%9E%E7%B5%8C%E3%83%BB%E7%99%BA%E9%81%94%E3%81%AE%E7%89%B9%E5%BE%B4\"><\/span><strong>2. \u795e\u7d4c\u30fb\u767a\u9054\u306e\u7279\u5fb4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p><strong>\u795e\u7d4c\u30fb\u767a\u9054\u306e\u75c7\u72b6\u306f\u3001SADDAN\u3092\u4ed6\u306eFGFR3\u7570\u5e38\u75c7\u3068\u533a\u5225\u3059\u308b\u3046\u3048\u3067\u91cd\u8981\u306a\u30dd\u30a4\u30f3\u30c8\u3067\u3059\u3002<\/strong><\/p>\n\n\n\n<p>\u91cd\u5ea6\u306e\u767a\u9054\u306e\u9045\u308c\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u9996\u306e\u3059\u308f\u308a\u3001\u304a\u5ea7\u308a\u3001\u6b69\u884c\u306a\u3069\u306e\u904b\u52d5\u767a\u9054\u306f\u3001\u9aa8\u683c\u306e\u554f\u984c\u3068\u795e\u7d4c\u306e\u554f\u984c\u306e\u4e21\u65b9\u306b\u3088\u308a\u3001\u3086\u3063\u304f\u308a\u9032\u307f\u307e\u3059\u3002\u8a00\u8449\u306e\u7406\u89e3\u3084\u767a\u8a9e\u306a\u3069\u306e\u77e5\u7684\u767a\u9054\u306b\u3082\u9045\u308c\u304c\u898b\u3089\u308c\u3001\u751f\u6daf\u306b\u308f\u305f\u3063\u3066\u7642\u80b2\u3084\u751f\u6d3b\u652f\u63f4\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3002\u8d64\u3061\u3083\u3093\u306e\u9803\u3001\u5168\u8eab\u306e\u7b4b\u8089\u306e\u5f35\u308a\u304c\u5f31\u304f\u3001\u4f53\u304c\u67d4\u3089\u304b\u3044\uff08\u30d5\u30ed\u30c3\u30d4\u30fc\u30a4\u30f3\u30d5\u30a1\u30f3\u30c8\uff09\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u3066\u3093\u304b\u3093\u767a\u4f5c\u3092\u5408\u4f75\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u3001\u6c34\u982d\u75c7\u306b\u3088\u308a\u8133\u306e\u4e2d\u306e\u6c34\u5206\uff08\u9ac4\u6db2\uff09\u304c\u6e9c\u307e\u308a\u3059\u304e\u3066\u982d\u304c\u5927\u304d\u304f\u306a\u308b\u3001\u8133\u5ba4\u62e1\u5927\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u3082\u591a\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E7%9A%AE%E8%86%9A%E3%81%AE%E7%89%B9%E5%BE%B4%EF%BC%88%E9%BB%92%E8%89%B2%E8%A1%A8%E7%9A%AE%E8%85%AB%EF%BC%89\"><\/span><strong>3. \u76ae\u819a\u306e\u7279\u5fb4\uff08\u9ed2\u8272\u8868\u76ae\u816b\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u75c5\u540d\u306e\u4e00\u90e8\u306b\u3082\u306a\u3063\u3066\u3044\u308b\u7279\u5fb4\u7684\u306a\u75c7\u72b6\u3067\u3059\u3002\u9996\u306e\u5468\u308a\u3001\u8107\u306e\u4e0b\u3001\u8db3\u306e\u4ed8\u3051\u6839\uff08\u9f20\u5f84\u90e8\uff09\u306a\u3069\u306e\u76ae\u819a\u304c\u3001\u9ed2\u3063\u307d\u304f\u8272\u7d20\u6c88\u7740\u3057\u3001\u30d3\u30ed\u30fc\u30c9\u306e\u3088\u3046\u306b\u539a\u304f\u3056\u3089\u3056\u3089\u3068\u3057\u305f\u611f\u89e6\u306b\u306a\u308a\u307e\u3059\u3002\u751f\u307e\u308c\u305f\u6642\u304b\u3089\u3042\u308b\u3053\u3068\u306f\u5c11\u306a\u304f\u3001\u4e73\u5150\u671f\u4ee5\u964d\u3001\u3042\u308b\u3044\u306f\u5e7c\u5150\u671f\u306b\u306a\u3063\u3066\u304b\u3089\u5f90\u3005\u306b\u73fe\u308c\u3066\u304f\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E5%91%BC%E5%90%B8%E5%99%A8%E3%81%AE%E7%97%87%E7%8A%B6\"><\/span><strong>4. \u547c\u5438\u5668\u306e\u75c7\u72b6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u80f8\u90ed\u4f4e\u5f62\u6210\u306b\u3088\u308b\u547c\u5438\u969c\u5bb3\u3002\u80f8\u304c\u72ed\u3044\u305f\u3081\u306b\u80ba\u304c\u5341\u5206\u306b\u5e83\u304c\u3089\u305a\u3001\u547c\u5438\u304c\u6d45\u304f\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u9589\u585e\u6027\u7121\u547c\u5438\u3002\u9854\u306e\u4e2d\u592e\u90e8\u306e\u9aa8\u304c\u5c0f\u3055\u3044\u305f\u3081\u6c17\u9053\u304c\u72ed\u304f\u306a\u308a\u3084\u3059\u304f\u3001\u5bdd\u3066\u3044\u308b\u6642\u306b\u3044\u3073\u304d\u3092\u304b\u3044\u305f\u308a\u3001\u547c\u5438\u304c\u6b62\u307e\u3063\u305f\u308a\u3059\u308b\u7761\u7720\u6642\u7121\u547c\u5438\u75c7\u5019\u7fa4\u3092\u8d77\u3053\u3057\u3084\u3059\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u4e2d\u67a2\u6027\u7121\u547c\u5438\u3002\u8133\u3068\u9996\u306e\u3064\u306a\u304e\u76ee\uff08\u5927\u5f8c\u982d\u5b54\uff09\u304c\u72ed\u304f\u306a\u308b\u3053\u3068\u3067\u547c\u5438\u306e\u6307\u4ee4\u3092\u51fa\u3059\u795e\u7d4c\u304c\u5727\u8feb\u3055\u308c\u3001\u547c\u5438\u304c\u6b62\u307e\u3063\u3066\u3057\u307e\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%8E%9F%E5%9B%A0%EF%BC%9A%E3%81%AA%E3%81%9C%E8%B5%B7%E3%81%8D%E3%81%9F%E3%81%AE%E3%81%8B\"><\/span><strong>\u539f\u56e0\uff1a\u306a\u305c\u8d77\u304d\u305f\u306e\u304b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>SADDAN\u306e\u539f\u56e0\u306f\u3001FGFR3\u907a\u4f1d\u5b50\u306e\u4e2d\u306e\u300cLys650Met\uff08K650M\uff09\u300d\u3068\u3044\u3046\u7279\u5b9a\u306e\u5909\u7570\u3067\u3059\u3002<\/strong>\u3054\u4e21\u89aa\u306e\u80b2\u3066\u65b9\u3084\u598a\u5a20\u4e2d\u306e\u904e\u3054\u3057\u65b9\u304c\u539f\u56e0\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u3054\u5bb6\u65cf\u304c\u300c\u306a\u305c\uff1f\u300d\u3068\u60a9\u307f\u3001\u6642\u306b\u3054\u81ea\u8eab\u3092\u8cac\u3081\u3066\u3057\u307e\u3046\u306e\u304c\u300c\u539f\u56e0\u300d\u306b\u3064\u3044\u3066\u3067\u3059\u304c\u3001\u58f0\u3092\u5927\u306b\u3057\u3066\u304a\u4f1d\u3048\u3057\u305f\u3044\u70b9\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"FGFR3%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AE%E7%89%B9%E5%AE%9A%E3%81%AE%E5%A4%89%E7%95%B0\"><\/span><strong>FGFR3\u907a\u4f1d\u5b50\u306e\u7279\u5b9a\u306e\u5909\u7570<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u907a\u4f1d\u5b50\u306f\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u8a2d\u8a08\u56f3\u3067\u3059\u3002FGFR3\u907a\u4f1d\u5b50\u306f\u3001\u9aa8\u306e\u6210\u9577\u306b\u5bfe\u3057\u3066\u300c\u30d6\u30ec\u30fc\u30ad\u300d\u3092\u304b\u3051\u308b\u5f79\u5272\u3092\u6301\u3064\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u4f5c\u3063\u3066\u3044\u307e\u3059\u3002\u901a\u5e38\u306f\u3001\u9aa8\u304c\u5fc5\u8981\u4ee5\u4e0a\u306b\u4f38\u3073\u3059\u304e\u306a\u3044\u3088\u3046\u9069\u5ea6\u306b\u30d6\u30ec\u30fc\u30ad\u3092\u304b\u3051\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>K650M\u3068\u3044\u3046\u5909\u7570\u304c\u8d77\u304d\u308b\u3068\u3001\u3053\u306e\u30d6\u30ec\u30fc\u30ad\u6a5f\u80fd\u304c\u975e\u5e38\u306b\u5f37\u304f\u3001\u5e38\u306b\u304b\u304b\u308a\u3063\u3071\u306a\u3057\u306e\u72b6\u614b\u306b\u306a\u308a\u307e\u3059\u3002\u5f37\u529b\u306a\u30d6\u30ec\u30fc\u30ad\u306e\u305b\u3044\u3067\u8edf\u9aa8\u7d30\u80de\u304c\u5897\u3048\u305a\u3001\u9aa8\u304c\u4f38\u3073\u306a\u304f\u306a\u3063\u3066\u3057\u307e\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3055\u3089\u306b\u3001\u3053\u306e\u7279\u5b9a\u306e\u5909\u7570\u306f\u9aa8\u3060\u3051\u3067\u306a\u304f\u3001\u8133\u306e\u767a\u9054\u3084\u76ae\u819a\u306e\u7d30\u80de\u306b\u3082\u5f37\u3044\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u6027\u8cea\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u3002\u305d\u306e\u305f\u3081SADDAN\u7279\u6709\u306e\u75c7\u72b6\uff08\u767a\u9054\u9045\u6ede\u3084\u9ed2\u8272\u8868\u76ae\u816b\uff09\u304c\u73fe\u308c\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>FGFR3\u907a\u4f1d\u5b50\u306e\u5909\u5316\u306b\u3088\u308b\u75c5\u6c17\u306f\u3001\u907a\u4f1d\u3059\u308b\u5834\u5408\u306f\u5e38\u67d3\u8272\u4f53\u9855\u6027\u306e\u5f62\u5f0f\u3092\u3068\u308a\u307e\u3059\u3002\u305f\u3060\u3057\u6b21\u306e\u9805\u76ee\u3067\u8aac\u660e\u3059\u308b\u901a\u308a\u3001SADDAN\u306e\u307b\u3068\u3093\u3069\u306f\u89aa\u304b\u3089\u53d7\u3051\u7d99\u3044\u3060\u3082\u306e\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u5206\u5b50\u30e1\u30ab\u30cb\u30ba\u30e0\u306e\u8a73\u7d30\u306f\u3001\u56fd\u969b\u7684\u306a\u907a\u4f1d\u6027\u75be\u60a3\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u3067\u3042\u308b<a href=\"https:\/\/medlineplus.gov\/genetics\/condition\/saddan\/\" target=\"_blank\" rel=\"noopener\">\u7c73\u56fd\u56fd\u7acb\u533b\u5b66\u56f3\u66f8\u9928MedlinePlus Genetics\u306eSADDAN\u89e3\u8aac<\/a>\u3067\u3082\u6574\u7406\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u8fd1\u7e01\u75be\u60a3\u306e\u907a\u4f1d\u5b66\u7684\u306a\u4f4d\u7f6e\u3065\u3051\u306f<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1152\/\" target=\"_blank\" rel=\"noopener\">GeneReviews\u300cAchondroplasia\u300d<\/a>\u304c\u53c2\u8003\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%AA%81%E7%84%B6%E5%A4%89%E7%95%B0%EF%BC%88de_novo%E5%A4%89%E7%95%B0%EF%BC%89\"><\/span><strong>\u7a81\u7136\u5909\u7570\uff08de novo\u5909\u7570\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p><strong>SADDAN\u306e\u60a3\u8005\u3055\u3093\u306e\u307b\u3068\u3093\u3069\u306f\u3001\u300cde novo\uff08\u30c7\u30fb\u30ce\u30dc\uff09\u300d\u3068\u547c\u3070\u308c\u308b\u7a81\u7136\u5909\u7570\u3067\u767a\u75c7\u3057\u3001\u3054\u4e21\u89aa\u306e\u907a\u4f1d\u5b50\u306b\u306f\u7570\u5e38\u304c\u306a\u3044\u30b1\u30fc\u30b9\u304c\u307b\u3068\u3093\u3069\u3067\u3059\u3002<\/strong><\/p>\n\n\n\n<p>\u3053\u308c\u306f\u3001\u7cbe\u5b50\u3084\u5375\u5b50\u304c\u4f5c\u3089\u308c\u308b\u904e\u7a0b\u3001\u3042\u308b\u3044\u306f\u53d7\u7cbe\u5f8c\u306e\u7d30\u80de\u5206\u88c2\u306e\u975e\u5e38\u306b\u65e9\u3044\u6bb5\u968e\u3067\u3001\u5076\u7136FGFR3\u907a\u4f1d\u5b50\u306b\u3053\u306e\u5909\u5316\u304c\u8d77\u304d\u305f\u3082\u306e\u3067\u3059\u3002\u8ab0\u306b\u3067\u3082\u8d77\u3053\u308a\u3046\u308b\u81ea\u7136\u306e\u78ba\u7387\u7684\u306a\u73fe\u8c61\u3067\u3042\u308a\u3001\u9632\u3050\u3053\u3068\u306f\u73fe\u4ee3\u306e\u533b\u5b66\u3067\u306f\u4e0d\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u79c1\u306f\u5916\u6765\u3067\u3053\u306e\u70b9\u3092\u7e70\u308a\u8fd4\u3057\u304a\u4f1d\u3048\u3057\u3066\u3044\u307e\u3059\u304c\u3001\u300c\u81ea\u5206\u305f\u3061\u306e\u305b\u3044\u3060\u300d\u3068\u8003\u3048\u8fbc\u3093\u3067\u3057\u307e\u3046\u3054\u4e21\u89aa\u3092\u3001\u3053\u308c\u307e\u3067\u4f55\u5ea6\u3082\u898b\u3066\u304d\u307e\u3057\u305f\u3002\u539f\u56e0\u3092\u6b63\u3057\u304f\u77e5\u308b\u3053\u3068\u304c\u3001\u3054\u5bb6\u65cf\u306e\u6c17\u6301\u3061\u3092\u5c11\u3057\u3067\u3082\u8efd\u304f\u3059\u308b\u4e00\u6b69\u306b\u306a\u308b\u3068\u611f\u3058\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n<!--nipt_mono-->\r\n<div class=\"nipt-mono\">\r\n    <div class=\"nipt-mono-btn\">\r\n        <a href=\"\/nipt\/nipt-mono\/\">\r\n            <img decoding=\"async\" loading=\"lazy\" src=\"\/nipt\/wp-content\/uploads\/2026\/03\/NIPT-MONO.webp\" alt=\"NIPT-MONO\u3067\u8abf\u3079\u3089\u308c\u307e\u3059\">\r\n         <\/a>\r\n    <\/div>\r\n<\/div>\r\n\r\n<style>\r\n.nipt-mono {\r\n    text-align: center; \/* \u89aa\u8981\u7d20\u3067\u6a2a\u4e2d\u592e *\/\r\n}\r\n.nipt-mono a img {\r\n    display: inline-block; \/* \u753b\u50cf\u3092\u30a4\u30f3\u30e9\u30a4\u30f3\u30d6\u30ed\u30c3\u30af\u5316\u3057\u3066 text-align \u306b\u53cd\u6620 *\/\r\n    width: 333px;\r\n}\r\n<\/style>\r\n<!--\/nipt_mono-->\r\n\r\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%A8%BA%E6%96%AD%E3%81%A8%E6%A4%9C%E6%9F%BB\"><\/span><strong>\u8a3a\u65ad\u3068\u691c\u67fb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u8a3a\u65ad\u306f\u3001\u7279\u5fb4\u7684\u306a\u75c7\u72b6\u306e\u7d44\u307f\u5408\u308f\u305b\u3068\u3001\u30ec\u30f3\u30c8\u30b2\u30f3\u691c\u67fb\u3001\u305d\u3057\u3066\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u306b\u3088\u3063\u3066\u884c\u308f\u308c\u307e\u3059\u3002<\/strong><\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E8%BA%AB%E4%BD%93%E8%A8%BA%E5%AF%9F\"><\/span><strong>1. \u8eab\u4f53\u8a3a\u5bdf<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6975\u7aef\u306a\u4f4e\u8eab\u9577\u3001\u624b\u8db3\u306e\u77ed\u3055\u3001\u5927\u304d\u306a\u982d\u3001\u76ae\u819a\u306e\u9ed2\u305a\u307f\uff08\u5e74\u9f62\u306b\u3088\u308b\uff09\u306a\u3069\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E7%94%BB%E5%83%8F%E6%A4%9C%E6%9F%BB%EF%BC%88%E3%83%AC%E3%83%B3%E3%83%88%E3%82%B2%E3%83%B3%E3%83%BBMRI%EF%BC%89\"><\/span><strong>2. \u753b\u50cf\u691c\u67fb\uff08\u30ec\u30f3\u30c8\u30b2\u30f3\u30fbMRI\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u9aa8\u306e\u30ec\u30f3\u30c8\u30b2\u30f3\u3067\u306f\u3001SADDAN\u306b\u7279\u5fb4\u7684\u306a\u9aa8\u306e\u5f62\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002\u5927\u817f\u9aa8\u306e\u6e7e\u66f2\uff08\u53d7\u8a71\u5668\u69d8\u5909\u5f62\uff09\u3001\u690e\u4f53\uff08\u80cc\u9aa8\u306e\u30d6\u30ed\u30c3\u30af\uff09\u304c\u8584\u3044\u3053\u3068\u3001\u9aa8\u76e4\u306e\u5f62\u304c\u56db\u89d2\u3044\u3053\u3068\u3001\u808b\u9aa8\u304c\u77ed\u3044\u3053\u3068\u306a\u3069\u304c\u624b\u304c\u304b\u308a\u3067\u3059\u3002\u982d\u90e8MRI\u3067\u306f\u3001\u8133\u306e\u69cb\u9020\u3001\u6c34\u982d\u75c7\u306e\u6709\u7121\u3001\u5927\u5f8c\u982d\u5b54\uff08\u982d\u3068\u9996\u306e\u3064\u306a\u304e\u76ee\u306e\u7a74\uff09\u304c\u72ed\u304f\u306a\u3063\u3066\u3044\u306a\u3044\u304b\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E9%81%BA%E4%BC%9D%E5%AD%A6%E7%9A%84%E6%A4%9C%E6%9F%BB%EF%BC%88%E7%A2%BA%E5%AE%9A%E8%A8%BA%E6%96%AD%EF%BC%89\"><\/span><strong>3. \u907a\u4f1d\u5b66\u7684\u691c\u67fb\uff08\u78ba\u5b9a\u8a3a\u65ad\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8840\u6db2\u691c\u67fb\u3067DNA\u3092\u8abf\u3079\u3001FGFR3\u907a\u4f1d\u5b50\u306b\u300cLys650Met\uff08K650M\uff09\u300d\u3068\u3044\u3046\u5909\u7570\u304c\u3042\u308b\u304b\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002\u3053\u306e\u5909\u7570\u3092\u78ba\u8a8d\u3059\u308b\u3053\u3068\u3067\u3001\u8edf\u9aa8\u7121\u5f62\u6210\u75c7\u3084\u81f4\u6b7b\u6027\u9aa8\u7570\u5f62\u6210\u75c7\u3068\u660e\u78ba\u306b\u533a\u5225\u3057\u3001\u78ba\u5b9a\u8a3a\u65ad\u3068\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2025\/11\/33336776_s.webp\" alt=\"\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u306b\u3064\u3044\u3066\u8aac\u660e\u3059\u308b\u533b\u5e2b\" class=\"wp-image-119766\"\/><\/figure><\/div>\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%B2%BB%E7%99%82%E3%81%A8%E7%AE%A1%E7%90%86%EF%BC%9A%E3%81%93%E3%82%8C%E3%81%8B%E3%82%89%E3%81%AE%E3%83%AD%E3%83%BC%E3%83%89%E3%83%9E%E3%83%83%E3%83%97\"><\/span><strong>\u6cbb\u7642\u3068\u7ba1\u7406\uff1a\u3053\u308c\u304b\u3089\u306e\u30ed\u30fc\u30c9\u30de\u30c3\u30d7<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u73fe\u6642\u70b9\u3067SADDAN\u306b\u5bfe\u3057\u3066\u78ba\u7acb\u3055\u308c\u305f\u6839\u672c\u6cbb\u7642\u85ac\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/strong>\u6cbb\u7642\u306e\u76ee\u7684\u306f\u3001\u5408\u4f75\u75c7\u3092\u4e88\u9632\u30fb\u7ba1\u7406\u3057\u3001\u304a\u5b50\u69d8\u306e\u767a\u9054\u3092\u6700\u5927\u9650\u306b\u652f\u63f4\u3057\u3066\u751f\u6d3b\u306e\u8cea\u3092\u9ad8\u3081\u308b\u3053\u3068\u3067\u3059\u3002FGFR3\u907a\u4f1d\u5b50\u306e\u50cd\u304d\u3092\u6291\u3048\u308b\u85ac\uff08\u8edf\u9aa8\u7121\u5f62\u6210\u75c7\u6cbb\u7642\u85ac\u306a\u3069\uff09\u306e\u7814\u7a76\u306f\u9032\u3093\u3067\u3044\u307e\u3059\u304c\u3001SADDAN\u3078\u306e\u9069\u5fdc\u306f\u4eca\u5f8c\u306e\u7814\u7a76\u8ab2\u984c\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E5%91%BC%E5%90%B8%E7%AE%A1%E7%90%86%EF%BC%88%E7%94%9F%E5%91%BD%E3%82%92%E5%AE%88%E3%82%8B%E3%81%9F%E3%82%81%E3%81%AB%EF%BC%89\"><\/span><strong>1. \u547c\u5438\u7ba1\u7406\uff08\u751f\u547d\u3092\u5b88\u308b\u305f\u3081\u306b\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p><strong>\u6700\u3082\u6ce8\u610f\u304c\u5fc5\u8981\u306a\u306e\u304c\u547c\u5438\u3067\u3001\u72b6\u614b\u306b\u5fdc\u3058\u3066\u8907\u6570\u306e\u5bfe\u5fdc\u3092\u7d44\u307f\u5408\u308f\u305b\u307e\u3059\u3002<\/strong><\/p>\n\n\n\n<p>\u7761\u7720\u6642\u7121\u547c\u5438\u306e\u7ba1\u7406\u3082\u6b20\u304b\u305b\u307e\u305b\u3093\u3002\u30a2\u30c7\u30ce\u30a4\u30c9\u3084\u6241\u6843\u817a\u304c\u5927\u304d\u3044\u5834\u5408\u306f\u5207\u9664\u624b\u8853\u3092\u884c\u3063\u305f\u308a\u3001\u5bdd\u3066\u3044\u308b\u9593\u306b\u30de\u30b9\u30af\u3067\u7a7a\u6c17\u3092\u9001\u308bCPAP\uff08\u30b7\u30fc\u30d1\u30c3\u30d7\uff09\u7642\u6cd5\u3092\u884c\u3063\u305f\u308a\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5927\u5f8c\u982d\u5b54\u72ed\u7a84\u3078\u306e\u5bfe\u5fdc\u3082\u91cd\u8981\u3067\u3059\u3002\u982d\u3068\u9996\u306e\u3064\u306a\u304e\u76ee\u306e\u9aa8\u304c\u72ed\u304f\u3001\u547c\u5438\u306e\u4e2d\u67a2\uff08\u5ef6\u9ac4\uff09\u3092\u5727\u8feb\u3057\u3066\u3044\u308b\u5834\u5408\u306f\u3001\u9aa8\u3092\u524a\u3063\u3066\u5e83\u3052\u308b\u300c\u5927\u5f8c\u982d\u5b54\u6e1b\u5727\u8853\u300d\u3068\u3044\u3046\u624b\u8853\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u306e\u624b\u8853\u306b\u3088\u3063\u3066\u7a81\u7136\u6b7b\u306e\u30ea\u30b9\u30af\u3092\u6e1b\u3089\u3057\u3001\u547c\u5438\u72b6\u614b\u306e\u6539\u5584\u304c\u671f\u5f85\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u91cd\u5ea6\u306e\u547c\u5438\u969c\u5bb3\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u5589\u306b\u7a74\u3092\u958b\u3051\u3066\u30ab\u30cb\u30e5\u30fc\u30ec\u3092\u5165\u308c\u308b\u6c17\u7ba1\u5207\u958b\u3092\u884c\u3044\u3001\u5b89\u5b9a\u3057\u305f\u547c\u5438\u3092\u78ba\u4fdd\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E7%A5%9E%E7%B5%8C%E3%83%BB%E8%84%B3%E5%A4%96%E7%A7%91%E7%9A%84%E7%AE%A1%E7%90%86\"><\/span><strong>2. \u795e\u7d4c\u30fb\u8133\u5916\u79d1\u7684\u7ba1\u7406<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8133\u5ba4\u62e1\u5927\u304c\u9032\u884c\u3057\u3001\u8133\u3092\u5727\u8feb\u3059\u308b\u6c34\u982d\u75c7\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u4f59\u5206\u306a\u9ac4\u6db2\u3092\u304a\u8179\u306a\u3069\u306b\u6d41\u3059\u300c\u30b7\u30e3\u30f3\u30c8\u624b\u8853\u300d\u3092\u884c\u3044\u307e\u3059\u3002\u3066\u3093\u304b\u3093\u306b\u3064\u3044\u3066\u306f\u3001\u8133\u6ce2\u691c\u67fb\u3092\u884c\u3044\u3001\u767a\u4f5c\u304c\u3042\u308b\u5834\u5408\u306f\u6297\u3066\u3093\u304b\u3093\u85ac\u3092\u670d\u7528\u3057\u3066\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E6%95%B4%E5%BD%A2%E5%A4%96%E7%A7%91%E7%9A%84%E7%AE%A1%E7%90%86\"><\/span><strong>3. \u6574\u5f62\u5916\u79d1\u7684\u7ba1\u7406<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u9aa8\u306e\u5909\u5f62\u3084\u80cc\u9aa8\u306e\u66f2\u304c\u308a\u306b\u5bfe\u3057\u3066\u306f\u3001\u9577\u671f\u7684\u306a\u30d5\u30a9\u30ed\u30fc\u304c\u5fc5\u8981\u3067\u3059\u3002O\u811a\u3084\u9aa8\u306e\u66f2\u304c\u308a\u304c\u5f37\u304f\u6b69\u884c\u306b\u652f\u969c\u304c\u51fa\u308b\u5834\u5408\u306f\u3001\u9aa8\u3092\u5207\u3063\u3066\u307e\u3063\u3059\u3050\u306b\u3059\u308b\u624b\u8853\uff08\u9aa8\u5207\u308a\u8853\uff09\u3092\u884c\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u810a\u67f1\u7ba1\u72ed\u7a84\u75c7\u306b\u3064\u3044\u3066\u306f\u3001\u80cc\u9aa8\u306e\u795e\u7d4c\u306e\u901a\u308a\u9053\u304c\u72ed\u304f\u306a\u308a\u3084\u3059\u3044\u305f\u3081\u3001\u624b\u8db3\u306e\u3057\u3073\u308c\u3084\u9ebb\u75fa\u304c\u51fa\u306a\u3044\u304b\u5b9a\u671f\u7684\u306b\u30c1\u30a7\u30c3\u30af\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E7%99%BA%E9%81%94%E3%83%BB%E7%99%82%E8%82%B2%E3%82%B5%E3%83%9D%E3%83%BC%E3%83%88%EF%BC%88%E3%83%8F%E3%83%93%E3%83%AA%E3%83%86%E3%83%BC%E3%82%B7%E3%83%A7%E3%83%B3%EF%BC%89\"><\/span><strong>4. \u767a\u9054\u30fb\u7642\u80b2\u30b5\u30dd\u30fc\u30c8\uff08\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>SADDAN\u306e\u304a\u5b50\u69d8\u306b\u3068\u3063\u3066\u3001\u65e9\u671f\u304b\u3089\u306e\u7642\u80b2\u306f\u975e\u5e38\u306b\u91cd\u8981\u3067\u3059\u3002\u7406\u5b66\u7642\u6cd5\uff08PT\uff09\u3067\u306f\u3001\u9996\u306e\u3059\u308f\u308a\u3084\u6b69\u884c\u306a\u3069\u306e\u904b\u52d5\u767a\u9054\u3092\u4fc3\u3057\u307e\u3059\u3002\u4f53\u306e\u67d4\u3089\u304b\u3055\u3084\u9aa8\u306e\u5909\u5f62\u306b\u914d\u616e\u3057\u306a\u304c\u3089\u3001\u4f53\u306e\u4f7f\u3044\u65b9\u3092\u7df4\u7fd2\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09\u3067\u306f\u624b\u5148\u306e\u52d5\u304d\u3084\u3001\u98df\u4e8b\u30fb\u7740\u66ff\u3048\u306a\u3069\u306e\u65e5\u5e38\u751f\u6d3b\u52d5\u4f5c\u306e\u7df4\u7fd2\u3092\u884c\u3044\u307e\u3059\u3002\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09\u3067\u306f\u3001\u8a00\u8449\u306e\u9045\u308c\u3084\u98f2\u307f\u8fbc\u307f\uff08\u56a5\u4e0b\uff09\u306e\u554f\u984c\u306b\u30a2\u30d7\u30ed\u30fc\u30c1\u3057\u307e\u3059\u3002\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u624b\u6bb5\u3068\u3057\u3066\u3001\u30b5\u30a4\u30f3\u3084\u7d75\u30ab\u30fc\u30c9\u3001\u30bf\u30d6\u30ec\u30c3\u30c8\u7aef\u672b\u306a\u3069\u3092\u6d3b\u7528\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"5_%E7%9A%AE%E8%86%9A%E3%81%AE%E3%82%B1%E3%82%A2\"><\/span><strong>5. \u76ae\u819a\u306e\u30b1\u30a2<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u9ed2\u8272\u8868\u76ae\u816b\u81ea\u4f53\u306f\u3001\u5065\u5eb7\u306b\u60aa\u5f71\u97ff\u3092\u53ca\u307c\u3059\u3082\u306e\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u76ae\u819a\u304c\u539a\u304f\u306a\u3063\u3066\u3044\u308b\u90e8\u5206\u306f\u6c5a\u308c\u304c\u305f\u307e\u308a\u3084\u3059\u3044\u305f\u3081\u3001\u6e05\u6f54\u3092\u4fdd\u3061\u3001\u4fdd\u6e7f\u30b1\u30a2\u3092\u884c\u3044\u307e\u3059\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\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%BA%88%E5%BE%8C%E3%81%A8%E7%94%9F%E6%B4%BB%E3%81%AB%E3%81%A4%E3%81%84%E3%81%A6\"><\/span><strong>\u4e88\u5f8c\u3068\u751f\u6d3b\u306b\u3064\u3044\u3066<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>SADDAN\u306f\u91cd\u7be4\u306a\u75be\u60a3\u3067\u3059\u304c\u3001\u81f4\u6b7b\u6027\u9aa8\u7570\u5f62\u6210\u75c7\u3068\u306f\u7570\u306a\u308a\u3001\u4ee5\u524d\u8003\u3048\u3089\u308c\u3066\u3044\u305f\u3088\u308a\u3082\u9577\u671f\u751f\u5b58\u304c\u53ef\u80fd\u3067\u3042\u308b\u3053\u3068\u304c\u5206\u304b\u3063\u3066\u304d\u3066\u3044\u307e\u3059\u3002<\/strong>\u9069\u5207\u306a\u547c\u5438\u7ba1\u7406\u3084\u5408\u4f75\u75c7\u306e\u6cbb\u7642\u3092\u884c\u3046\u3053\u3068\u3067\u3001\u591a\u304f\u306e\u304a\u5b50\u69d8\u304c\u4e73\u5e7c\u5150\u671f\u3092\u4e57\u308a\u8d8a\u3048\u3001\u6210\u9577\u3057\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5b9f\u969b\u306b\u3001\u8457\u3057\u3044\u4f4e\u8eab\u9577\u306b\u5bfe\u3057\u3066\u6210\u9577\u30db\u30eb\u30e2\u30f3\u6cbb\u7642\u3092\u884c\u3044\u306a\u304c\u3089\u9577\u671f\u751f\u5b58\u306b\u81f3\u3063\u305f\u75c7\u4f8b\u304c\u3001<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC11234192\/\" target=\"_blank\" rel=\"noopener\">\u6d77\u5916\u306e\u5b66\u8853\u8ad6\u6587\uff08PMC\u63b2\u8f09\u306e\u75c7\u4f8b\u5831\u544a\uff09<\/a>\u3067\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u6cbb\u7642\u65b9\u91dd\u306f\u75c7\u4f8b\u3054\u3068\u306b\u7570\u306a\u308b\u305f\u3081\u3001\u8a73\u7d30\u306f\u4e3b\u6cbb\u533b\u3068\u76f8\u8ac7\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<p>\u767a\u9054\u306e\u30da\u30fc\u30b9\u306f\u975e\u5e38\u306b\u3086\u3063\u304f\u308a\u3067\u3001\u751f\u6daf\u306b\u308f\u305f\u3063\u3066\u4ecb\u52a9\u3084\u898b\u5b88\u308a\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u304a\u5b50\u69d8\u306a\u308a\u306b\u3067\u304d\u308b\u3053\u3068\u306f\u5897\u3048\u3066\u3044\u304d\u307e\u3059\u3002\u7b11\u9854\u3092\u898b\u305b\u3001\u5bb6\u65cf\u3092\u8a8d\u8b58\u3057\u3001\u597d\u304d\u306a\u904a\u3073\u3092\u898b\u3064\u3051\u3001\u610f\u601d\u8868\u793a\u3092\u3059\u308b\u3088\u3046\u306b\u306a\u308a\u307e\u3059\u3002\u7279\u5225\u652f\u63f4\u5b66\u6821\u306b\u901a\u3044\u3001\u5730\u57df\u306e\u4e2d\u3067\u751f\u6d3b\u3057\u3066\u3044\u308b\u60a3\u8005\u3055\u3093\u3082\u3044\u3089\u3063\u3057\u3083\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u79c1\u81ea\u8eab\u3001\u5916\u6765\u3067\u3054\u5bb6\u65cf\u3068\u304a\u8a71\u3057\u3059\u308b\u4e2d\u3067\u3001\u8a3a\u65ad\u3092\u53d7\u3051\u305f\u76f4\u5f8c\u306e\u5f35\u308a\u8a70\u3081\u305f\u8868\u60c5\u3092\u898b\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u304a\u5b50\u69d8\u306e\u5c0f\u3055\u306a\u6210\u9577\u3092\u4e00\u3064\u3072\u3068\u3064\u91cd\u306d\u308b\u3046\u3061\u306b\u3001\u305d\u306e\u8868\u60c5\u304c\u5c11\u3057\u305a\u3064\u3084\u308f\u3089\u3044\u3067\u3044\u304f\u59ff\u3092\u4f55\u5ea6\u3082\u898b\u3066\u304d\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<p>SADDAN\u3068\u3044\u3046\u8a3a\u65ad\u540d\u3060\u3051\u3092\u898b\u3066\u5c06\u6765\u3092\u6c7a\u3081\u3064\u3051\u305a\u3001\u76ee\u306e\u524d\u306e\u304a\u5b50\u69d8\u306e\u6b69\u307f\u306b\u76ee\u3092\u5411\u3051\u3066\u3044\u305f\u3060\u304d\u305f\u3044\u3068\u8003\u3048\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"SADDAN%E3%81%A8%E5%87%BA%E7%94%9F%E5%89%8D%E8%A8%BA%E6%96%AD%EF%BC%88NIPT%EF%BC%89%E3%81%A7%E3%82%8F%E3%81%8B%E3%82%8B%E7%AF%84%E5%9B%B2\"><\/span><strong>SADDAN\u3068\u51fa\u751f\u524d\u8a3a\u65ad\uff08NIPT\uff09\u3067\u308f\u304b\u308b\u7bc4\u56f2<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>SADDAN\u306e\u3088\u3046\u306a\u4e00\u3064\u306e\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308b\u9aa8\u7cfb\u7d71\u75be\u60a3\u306f\u3001\u4e00\u822c\u7684\u306aNIPT\uff08\u65b0\u578b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\uff09\u306e\u5bfe\u8c61\u306b\u306f\u542b\u307e\u308c\u3066\u3044\u307e\u305b\u3093\u3002<\/strong><\/p>\n\n\n\n<p>NIPT\u306f\u6bcd\u4f53\u306e\u8840\u6db2\u304b\u3089\u80ce\u5150\u7531\u6765\u306eDNA\u65ad\u7247\u3092\u8abf\u3079\u3001\u4e3b\u306b21\u30fb18\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/patau-syndrome\/\">13\u30c8\u30ea\u30bd\u30df\u30fc<\/a>\u306a\u3069\u3001\u9650\u3089\u308c\u305f\u67d3\u8272\u4f53\u306e\u300c\u6570\u300d\u306e\u5909\u5316\u3092\u8abf\u3079\u308b\u975e\u78ba\u5b9a\u7684\u306a\u691c\u67fb\u3067\u3059\u3002<\/p>\n\n\n\n<p>SADDAN\u306fFGFR3\u907a\u4f1d\u5b50\u3068\u3044\u3046\u4e00\u3064\u306e\u907a\u4f1d\u5b50\u5185\u306e\u7279\u5b9a\u306e\u5909\u7570\uff08K650M\uff09\u304c\u539f\u56e0\u306e\u305f\u3081\u3001\u901a\u5e38\u306e\u67d3\u8272\u4f53\u6570\u3092\u5bfe\u8c61\u3068\u3059\u308bNIPT\u3067\u306f\u691c\u51fa\u3067\u304d\u307e\u305b\u3093\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/principles-of-nipt\/\">NIPT\u306e\u4ed5\u7d44\u307f\u3068\u539f\u7406\u306e\u89e3\u8aac<\/a>\u3082\u3042\u308f\u305b\u3066\u3054\u78ba\u8a8d\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<p>\u598a\u5a20\u5f8c\u671f\u306e\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u3001\u56db\u80a2\u306e\u77ed\u7e2e\u3084\u5927\u817f\u9aa8\u306e\u6e7e\u66f2\u306a\u3069\u9aa8\u683c\u306e\u7279\u5fb4\u304b\u3089\u7591\u308f\u308c\u308b\u3053\u3068\u306f\u3042\u308a\u307e\u3059\u304c\u3001\u305d\u308c\u3060\u3051\u3067\u78ba\u5b9a\u3059\u308b\u3053\u3068\u306f\u3067\u304d\u307e\u305b\u3093\u3002\u78ba\u5b9a\u8a3a\u65ad\u306b\u306f\u3001\u51fa\u751f\u5f8c\u306e\u907a\u4f1d\u5b66\u7684\u691c\u67fb\uff08\u8840\u6db2\u691c\u67fb\u3067\u306eFGFR3\u907a\u4f1d\u5b50\u89e3\u6790\uff09\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u4e0d\u78ba\u304b\u306a\u60c5\u5831\u306e\u307e\u307e\u601d\u3044\u60a9\u307e\u305a\u3001\u7591\u308f\u3057\u3044\u6240\u898b\u304c\u3042\u308c\u3070\u81e8\u5e8a\u907a\u4f1d\u5c02\u9580\u533b\u306b\u3088\u308b\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u5834\u3067\u78ba\u8a8d\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<p>\u304f\u308f\u3057\u304f\u8abf\u3079\u308b\u3068\u304d\u306f\u3001\u516c\u7684\u306a\u60c5\u5831\u6e90\u306b\u3042\u305f\u308b\u3068\u5b89\u5fc3\u3067\u3059\u3002\u56fd\u5185\u306e\u5e0c\u5c11\u30fb\u96e3\u75c5\u60c5\u5831\u306f<a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4571\" target=\"_blank\" rel=\"noopener\">\u96e3\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc\u306e\u8edf\u9aa8\u7121\u5f62\u6210\u75c7\u306e\u89e3\u8aac\uff08\u6307\u5b9a\u96e3\u75c5276\uff09<\/a>\u304c\u53c2\u8003\u306b\u306a\u308a\u307e\u3059\u3002\u6d77\u5916\u306e\u907a\u4f1d\u5b66\u7684\u306a\u6574\u7406\u306f<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1366\/\" target=\"_blank\" rel=\"noopener\">GeneReviews\u300cThanatophoric Dysplasia\u300d<\/a>\u306b\u307e\u3068\u307e\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%82%88%E3%81%8F%E3%81%82%E3%82%8B%E8%B3%AA%E5%95%8F%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<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_%E5%AF%BF%E5%91%BD%E3%81%AF%E3%81%A9%E3%81%AE%E3%81%8F%E3%82%89%E3%81%84%E3%81%A7%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span><strong>Q. \u5bff\u547d\u306f\u3069\u306e\u304f\u3089\u3044\u3067\u3059\u304b\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>SADDAN\u306f\u975e\u5e38\u306b\u7a00\u306a\u75be\u60a3\u306e\u305f\u3081\u3001\u6b63\u78ba\u306a\u7d71\u8a08\u30c7\u30fc\u30bf\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u547c\u5438\u7ba1\u7406\uff08\u7279\u306b\u5927\u5f8c\u982d\u5b54\u72ed\u7a84\u306e\u89e3\u9664\u3084\u7121\u547c\u5438\u306e\u7ba1\u7406\uff09\u304c\u9069\u5207\u306b\u884c\u308f\u308c\u308c\u3070\u3001\u9577\u671f\u751f\u5b58\u304c\u53ef\u80fd\u3067\u3042\u308a\u3001\u6210\u4eba\u307e\u3067\u6210\u9577\u3059\u308b\u4f8b\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u5e7c\u5c11\u671f\u306e\u547c\u5438\u7ba1\u7406\u304c\u9375\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_%E6%AD%A9%E3%81%91%E3%82%8B%E3%82%88%E3%81%86%E3%81%AB%E3%81%AA%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span><strong>Q. \u6b69\u3051\u308b\u3088\u3046\u306b\u306a\u308a\u307e\u3059\u304b\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u9aa8\u306e\u5909\u5f62\u3084\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3001\u77e5\u7684\u767a\u9054\u306e\u5f71\u97ff\u306b\u3088\u308a\u3001\u6b69\u884c\u958b\u59cb\u306f\u304b\u306a\u308a\u9045\u308c\u308b\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\u3059\u3002\u6b69\u884c\u5668\u3084\u8eca\u6905\u5b50\u306a\u3069\u306e\u88dc\u52a9\u5177\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u30ea\u30cf\u30d3\u30ea\u3092\u901a\u3058\u3066\u3064\u304b\u307e\u308a\u7acb\u3061\u3084\u6b69\u884c\u3092\u7372\u5f97\u3059\u308b\u304a\u5b50\u69d8\u3082\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_%E6%AC%A1%E3%81%AE%E5%AD%90%E3%81%AB%E9%81%BA%E4%BC%9D%E3%81%97%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span><strong>Q. \u6b21\u306e\u5b50\u306b\u907a\u4f1d\u3057\u307e\u3059\u304b\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u304a\u5b50\u69d8\u304c\u300c\u7a81\u7136\u5909\u7570\u300d\u3067\u767a\u75c7\u3057\u305f\u5834\u5408\u3001\u3054\u4e21\u89aa\u306e\u907a\u4f1d\u5b50\u306b\u7570\u5e38\u306f\u306a\u3044\u305f\u3081\u3001\u6b21\u306e\u304a\u5b50\u69d8\u304c\u540c\u3058\u75c5\u6c17\u306b\u306a\u308b\u78ba\u7387\u306f\u4e00\u822c\u306e\u78ba\u7387\u3068\u307b\u307c\u5909\u308f\u308a\u307e\u305b\u3093\u3002\u8a73\u3057\u304f\u306f\u81e8\u5e8a\u907a\u4f1d\u5c02\u9580\u533b\u306b\u3088\u308b\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=\"Q_SADDAN%E3%81%AF%E5%87%BA%E7%94%9F%E5%89%8D%E8%A8%BA%E6%96%AD%EF%BC%88NIPT%EF%BC%89%E3%81%A7%E3%82%8F%E3%81%8B%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span><strong>Q. SADDAN\u306f\u51fa\u751f\u524d\u8a3a\u65ad\uff08NIPT\uff09\u3067\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\u306e\u5bfe\u8c61\u306b\u306f\u542b\u307e\u308c\u3066\u3044\u307e\u305b\u3093\u3002NIPT\u306f\u4e3b\u306b\u67d3\u8272\u4f53\u306e\u6570\u306e\u5909\u5316\u3092\u8abf\u3079\u308b\u975e\u78ba\u5b9a\u7684\u306a\u691c\u67fb\u3067\u3042\u308a\u3001SADDAN\u306e\u3088\u3046\u306a\u4e00\u3064\u306e\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306f\u901a\u5e38\u5bfe\u8c61\u5916\u3067\u3059\u3002\u598a\u5a20\u5f8c\u671f\u306e\u8d85\u97f3\u6ce2\u3067\u9aa8\u683c\u306e\u7279\u5fb4\u304b\u3089\u7591\u308f\u308c\u308b\u3053\u3068\u306f\u3042\u308a\u307e\u3059\u304c\u3001\u78ba\u5b9a\u306b\u306f\u51fa\u751f\u5f8c\u306e\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_%E8%BB%9F%E9%AA%A8%E7%84%A1%E5%BD%A2%E6%88%90%E7%97%87%E3%82%84%E8%87%B4%E6%AD%BB%E6%80%A7%E9%AA%A8%E7%95%B0%E5%BD%A2%E6%88%90%E7%97%87%E3%81%A8%E3%81%AF%E3%81%A9%E3%81%86%E9%81%95%E3%81%84%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span><strong>Q. \u8edf\u9aa8\u7121\u5f62\u6210\u75c7\u3084\u81f4\u6b7b\u6027\u9aa8\u7570\u5f62\u6210\u75c7\u3068\u306f\u3069\u3046\u9055\u3044\u307e\u3059\u304b\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3044\u305a\u308c\u3082\u540c\u3058FGFR3\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3067\u8d77\u3053\u308a\u307e\u3059\u304c\u3001\u5909\u7570\u306e\u7a2e\u985e\u304c\u7570\u306a\u308a\u307e\u3059\u3002\u8edf\u9aa8\u7121\u5f62\u6210\u75c7\u306f\u9aa8\u306e\u75c7\u72b6\u304c\u4e2d\u5fc3\u3067\u77e5\u80fd\u306f\u6b63\u5e38\u306a\u3053\u3068\u304c\u591a\u304f\u3001\u81f4\u6b7b\u6027\u9aa8\u7570\u5f62\u6210\u75c7\u306f\u9aa8\u306e\u75c7\u72b6\u304c\u6700\u91cd\u5ea6\u3067\u547c\u5438\u969c\u5bb3\u304c\u5f37\u3044\u30bf\u30a4\u30d7\u3067\u3059\u3002SADDAN\u306f\u305d\u306e\u4e2d\u9593\u304b\u3089\u91cd\u5ea6\u306e\u9aa8\u75c7\u72b6\u306b\u3001\u767a\u9054\u9045\u6ede\u3068\u9ed2\u8272\u8868\u76ae\u816b\u304c\u5408\u4f75\u3059\u308b\u70b9\u3067\u533a\u5225\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%BE%E3%81%A8%E3%82%81\"><\/span><strong>\u307e\u3068\u3081<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u3053\u3053\u307e\u3067\u306e\u91cd\u8981\u30dd\u30a4\u30f3\u30c8\u3092\u632f\u308a\u8fd4\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ol 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