{"id":122557,"date":"2026-01-14T10:59:39","date_gmt":"2026-01-14T01:59:39","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=122557"},"modified":"2026-07-24T05:19:47","modified_gmt":"2026-07-23T20:19:47","slug":"boomerang-dysplasia-flnb-genetics-clinical-features","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/boomerang-dysplasia-flnb-genetics-clinical-features\/","title":{"rendered":"\u30d6\u30fc\u30e1\u30e9\u30f3\u9aa8\u7570\u5f62\u6210\u75c7\u3068\u306f\uff5cFLNB\u907a\u4f1d\u5b50\u3068\u75c7\u72b6\u30fb\u8a3a\u65ad"},"content":{"rendered":"\n<div style=\"border:solid #ffe6e6 0.8rem;background-color: #fff9f9;padding:3% 5%;margin:1rem 0 3rem;\">\n<h2 style=\"margin-top:1rem;\">\u3053\u306e\u8a18\u4e8b\u306e\u307e\u3068\u3081<\/h2>\n<p><strong>\u30d6\u30fc\u30e1\u30e9\u30f3\u9aa8\u7570\u5f62\u6210\u75c7\uff08Boomerang dysplasia\uff09\u306f\u3001\u7d30\u80de\u306e\u9aa8\u683c\u3092\u652f\u3048\u308b\u30bf\u30f3\u30d1\u30af\u8cea\u300c\u30d5\u30a3\u30e9\u30df\u30f3B\u300d\u3092\u3064\u304f\u308bFLNB\u907a\u4f1d\u5b50\u306e\u5909\u5316\u306b\u3088\u3063\u3066\u8d77\u3053\u308a\u307e\u3059\u3002<\/strong>\u6975\u3081\u3066\u7a00\u306a\u3001\u81f4\u6b7b\u6027\u306e\u9aa8\u7cfb\u7d71\u75be\u60a3\u3002\u5927\u817f\u9aa8\u3084\u4e0a\u8155\u9aa8\u304c\u30d6\u30fc\u30e1\u30e9\u30f3\u306e\u3088\u3046\u306b\u5f2f\u66f2\u3059\u308b\u7279\u5fb4\u7684\u306a\u30ec\u30f3\u30c8\u30b2\u30f3\u6240\u898b\u3067\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u5b9f\u969b\u306b\u306f\u9aa8\u3060\u3051\u3067\u306a\u304f\u9854\u8c8c\u30fb\u95a2\u7bc0\u30fb\u8133\u3084\u8179\u58c1\u306b\u3082\u6240\u898b\u304c\u53ca\u3073\u307e\u3059\u3002\u6700\u65b0\u306e\u907a\u4f1d\u5b66\u7684\u5206\u985e\u3067\u306f\u3001Larsen\u75c7\u5019\u7fa4\u3084Atelosteogenesis 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/boomerang-dysplasia-flnb-genetics-clinical-features\/#%E7%8F%BE%E5%9C%A8%E3%81%AE%E5%8C%BB%E7%99%82%E3%81%A7%E3%81%A7%E3%81%8D%E3%82%8B%E3%81%93%E3%81%A8\" >\u73fe\u5728\u306e\u533b\u7642\u3067\u3067\u304d\u308b\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-18\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/boomerang-dysplasia-flnb-genetics-clinical-features\/#6_%E5%A6%8A%E5%A8%A0%E4%B8%AD%E3%81%AENIPT%E3%81%A8%E3%81%AE%E9%96%A2%E4%BF%82\" >6. \u598a\u5a20\u4e2d\u306eNIPT\u3068\u306e\u95a2\u4fc2<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-19\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/boomerang-dysplasia-flnb-genetics-clinical-features\/#7_%E3%81%94%E5%AE%B6%E6%97%8F%E3%81%B8%E3%81%AE%E3%83%A1%E3%83%83%E3%82%BB%E3%83%BC%E3%82%B8\" >7. \u3054\u5bb6\u65cf\u3078\u306e\u30e1\u30c3\u30bb\u30fc\u30b8<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-20\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/boomerang-dysplasia-flnb-genetics-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-21\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/boomerang-dysplasia-flnb-genetics-clinical-features\/#%E3%83%96%E3%83%BC%E3%83%A1%E3%83%A9%E3%83%B3%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%AE%E3%82%88%E3%81%86%E3%81%AA%E7%97%85%E6%B0%97%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\" >\u30d6\u30fc\u30e1\u30e9\u30f3\u9aa8\u7570\u5f62\u6210\u75c7\u3068\u306f\u3069\u306e\u3088\u3046\u306a\u75c5\u6c17\u3067\u3059\u304b\u3002<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-22\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/boomerang-dysplasia-flnb-genetics-clinical-features\/#%E3%81%AA%E3%81%9C%E3%80%8C%E3%83%96%E3%83%BC%E3%83%A1%E3%83%A9%E3%83%B3%E3%80%8D%E3%81%A8%E3%81%84%E3%81%86%E5%90%8D%E5%89%8D%E3%81%8C%E3%81%A4%E3%81%84%E3%81%A6%E3%81%84%E3%82%8B%E3%81%AE%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\" >\u306a\u305c\u300c\u30d6\u30fc\u30e1\u30e9\u30f3\u300d\u3068\u3044\u3046\u540d\u524d\u304c\u3064\u3044\u3066\u3044\u308b\u306e\u3067\u3059\u304b\u3002<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-23\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/boomerang-dysplasia-flnb-genetics-clinical-features\/#Atelosteogenesis_I%E5%9E%8B%E3%82%84Larsen%E7%97%87%E5%80%99%E7%BE%A4%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%E3%80%82\" >Atelosteogenesis I\u578b\u3084Larsen\u75c7\u5019\u7fa4\u3068\u306f\u3069\u3046\u9055\u3044\u307e\u3059\u304b\u3002<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-24\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/boomerang-dysplasia-flnb-genetics-clinical-features\/#%E5%AD%90%E3%81%A9%E3%82%82%E3%81%AB%E9%81%BA%E4%BC%9D%E3%81%97%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82%E6%AC%A1%E3%81%AE%E5%A6%8A%E5%A8%A0%E3%81%A7%E3%81%AE%E3%83%AA%E3%82%B9%E3%82%AF%E3%81%AF%E3%80%82\" >\u5b50\u3069\u3082\u306b\u907a\u4f1d\u3057\u307e\u3059\u304b\u3002\u6b21\u306e\u598a\u5a20\u3067\u306e\u30ea\u30b9\u30af\u306f\u3002<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-25\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/boomerang-dysplasia-flnb-genetics-clinical-features\/#%E5%A6%8A%E5%A8%A0%E4%B8%AD%E3%81%AENIPT%E3%81%A7%E3%81%93%E3%81%AE%E7%97%85%E6%B0%97%E3%81%AF%E3%82%8F%E3%81%8B%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >\u598a\u5a20\u4e2d\u306eNIPT\u3067\u3053\u306e\u75c5\u6c17\u306f\u308f\u304b\u308a\u307e\u3059\u304b\u3002<\/a><\/li><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\/boomerang-dysplasia-flnb-genetics-clinical-features\/#%E6%8C%87%E5%AE%9A%E9%9B%A3%E7%97%85%E3%82%84%E5%8C%BB%E7%99%82%E8%B2%BB%E5%8A%A9%E6%88%90%E3%81%AE%E5%AF%BE%E8%B1%A1%E3%81%AB%E3%81%AA%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >\u6307\u5b9a\u96e3\u75c5\u3084\u533b\u7642\u8cbb\u52a9\u6210\u306e\u5bfe\u8c61\u306b\u306a\u308a\u307e\u3059\u304b\u3002<\/a><\/li><\/ul><\/li><\/ul><\/nav><\/div>\n<h2 style=\"margin-top:1rem;\"><span class=\"ez-toc-section\" id=\"%E3%81%93%E3%81%AE%E8%A8%98%E4%BA%8B%E3%81%A7%E3%82%8F%E3%81%8B%E3%82%8B%E3%81%93%E3%81%A8\"><\/span>\u3053\u306e\u8a18\u4e8b\u3067\u308f\u304b\u308b\u3053\u3068<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<ul>\n<li>\u300c\u30d6\u30fc\u30e1\u30e9\u30f3\u9aa8\u7570\u5f62\u6210\u75c7\u300d\u3068\u3044\u3046\u540d\u524d\u306e\u7531\u6765\u3068\u3001\u3044\u3064\u30fb\u8ab0\u304c\u5831\u544a\u3057\u305f\u304b<\/li>\n<li>\u539f\u56e0\u907a\u4f1d\u5b50FLNB\u306e\u5f79\u5272\u3068\u3001\u30d5\u30a3\u30e9\u30df\u30f3B\u306e\u6a5f\u80fd\u7570\u5e38\u304c\u9aa8\u306b\u53ca\u307c\u3059\u5f71\u97ff<\/li>\n<li>Larsen\u75c7\u5019\u7fa4\u3084Atelosteogenesis I\u30fbIII\u578b\u3068\u306e\u95a2\u4fc2\uff08FLNB-AO1\u30b9\u30da\u30af\u30c8\u30e9\u30e0\uff09<\/li>\n<li>\u9577\u7ba1\u9aa8\u306e\u5f2f\u66f2\u4ee5\u5916\u306b\u898b\u3089\u308c\u308b\u9854\u8c8c\u30fb\u95a2\u7bc0\u30fb\u8133\u30fb\u8179\u58c1\u306e\u6240\u898b<\/li>\n<li>\u907a\u4f1d\u5f62\u5f0f\u3068\u3001\u6b21\u306e\u304a\u5b50\u3055\u307e\u3078\u306e\u5f71\u97ff\u306e\u8003\u3048\u65b9<\/li>\n<li>\u598a\u5a20\u4e2d\u306eNIPT\u3067\u3053\u306e\u75c5\u6c17\u304c\u3069\u3053\u307e\u3067\u308f\u304b\u308b\u306e\u304b<\/li>\n<\/ul>\n<\/div>\n\n\n\n<p><strong>\u300c\u30d6\u30fc\u30e1\u30e9\u30f3\u9aa8\u7570\u5f62\u6210\u75c7\u300d\u3068\u3044\u3046\u8a3a\u65ad\u540d\u3084\u691c\u67fb\u7d50\u679c\u3092\u76ee\u306b\u3057\u3066\u3001\u805e\u304d\u6163\u308c\u306a\u3044\u8a00\u8449\u306b\u4e0d\u5b89\u3092\u611f\u3058\u3066\u3044\u3089\u3063\u3057\u3083\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002<\/strong>\u672c\u75c7\u306f\u3001\u65b0\u751f\u5150\u671f\u306b\u81f4\u6b7b\u7684\u306a\u7d4c\u904e\u3092\u305f\u3069\u308b\u6975\u3081\u3066\u7a00\u306a\u9aa8\u7cfb\u7d71\u75be\u60a3\u3067\u3059\u3002\u540d\u79f0\u306f\u3001\u653e\u5c04\u7dda\u5b66\u7684\u306b\u5927\u817f\u9aa8\u3084\u4e0a\u8155\u9aa8\u306a\u3069\u306e\u9577\u7ba1\u9aa8\u304c\u3001\u30d6\u30fc\u30e1\u30e9\u30f3\u306e\u3088\u3046\u306b\u8457\u3057\u304f\u5f2f\u66f2\u3057\u3001\u5148\u7aef\u304c\u5c16\u3063\u305f\u5f62\u72b6\u3092\u5448\u3059\u308b\u3053\u3068\u306b\u7531\u6765\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306f\u3001\u7d30\u80de\u9aa8\u683c\u306e\u52d5\u614b\u3092\u5236\u5fa1\u3059\u308b\u30d5\u30a3\u30e9\u30df\u30f3B\uff08FLNB\uff09\u306e\u7570\u5e38\u306b\u3088\u3063\u3066\u751f\u3058\u307e\u3059\u3002\u672c\u7a3f\u3067\u306f\u3001\u30d6\u30fc\u30e1\u30e9\u30f3\u9aa8\u7570\u5f62\u6210\u75c7\u306e\u81e8\u5e8a\u7684\u7279\u5fb4\u3068\u653e\u5c04\u7dda\u5b66\u7684\u6240\u898b\u3092\u6574\u7406\u3057\u307e\u3059\u3002\u6700\u65b0\u306e\u907a\u4f1d\u5b66\u7684\u77e5\u898b\u3001\u305d\u3057\u3066\u598a\u5a20\u4e2d\u306e\u691c\u67fb\u3068\u306e\u95a2\u4fc2\u306b\u3064\u3044\u3066\u3082\u3001\u5c02\u9580\u7684\u306a\u8996\u70b9\u304b\u3089\u89e3\u8aac\u3057\u307e\u3059\u3002<\/p>\n\n\n<!--nipt_mono-->\r\n<div class=\"nipt-mono\">\r\n    <div class=\"nipt-mono-btn\">\r\n        <a href=\"\/nipt\/nipt-mono\/\">\r\n            <img decoding=\"async\" loading=\"lazy\" src=\"\/nipt\/wp-content\/uploads\/2026\/03\/NIPT-MONO.webp\" alt=\"NIPT-MONO\u3067\u8abf\u3079\u3089\u308c\u307e\u3059\">\r\n         <\/a>\r\n    <\/div>\r\n<\/div>\r\n\r\n<style>\r\n.nipt-mono {\r\n    text-align: center; \/* \u89aa\u8981\u7d20\u3067\u6a2a\u4e2d\u592e *\/\r\n}\r\n.nipt-mono a img {\r\n    display: inline-block; \/* \u753b\u50cf\u3092\u30a4\u30f3\u30e9\u30a4\u30f3\u30d6\u30ed\u30c3\u30af\u5316\u3057\u3066 text-align \u306b\u53cd\u6620 *\/\r\n    width: 333px;\r\n}\r\n<\/style>\r\n<!--\/nipt_mono-->\r\n\r\n\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E3%83%96%E3%83%BC%E3%83%A1%E3%83%A9%E3%83%B3%E9%AA%A8%E7%95%B0%E5%BD%A2%E6%88%90%E7%97%87%E3%81%A8%E3%81%AF%EF%BC%9A%E5%90%8D%E7%A7%B0%E3%81%AE%E7%94%B1%E6%9D%A5%E3%81%A8FLNB%E9%81%BA%E4%BC%9D%E5%AD%90\"><\/span><strong>1. \u30d6\u30fc\u30e1\u30e9\u30f3\u9aa8\u7570\u5f62\u6210\u75c7\u3068\u306f\uff1a\u540d\u79f0\u306e\u7531\u6765\u3068FLNB\u907a\u4f1d\u5b50<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u672c\u75c7\u306e\u539f\u56e0\u306f\u3001\u7b2c3\u67d3\u8272\u4f53\uff083p14.3\uff09\u306b\u4f4d\u7f6e\u3059\u308bFLNB\u907a\u4f1d\u5b50\u306e\u30d8\u30c6\u30ed\u63a5\u5408\u578b\u5909\u7570\u3067\u3059\u3002<\/strong>\u5e38\u67d3\u8272\u4f53\u9855\u6027\u907a\u4f1d\u306e\u5f62\u5f0f\u3092\u3068\u308a\u3001\u591a\u304f\u306f\u7a81\u7136\u5909\u7570\uff08\u30c7\u30ce\u30dc\uff09\u306b\u3088\u3063\u3066\u751f\u3058\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%AA%E3%81%9C%E3%80%8C%E3%83%96%E3%83%BC%E3%83%A1%E3%83%A9%E3%83%B3%E3%80%8D%E3%81%A8%E5%91%BC%E3%81%B0%E3%82%8C%E3%82%8B%E3%81%AE%E3%81%8B%EF%BC%88%E5%91%BD%E5%90%8D%E3%81%AE%E6%AD%B4%E5%8F%B2%EF%BC%89\"><\/span><strong>\u306a\u305c\u300c\u30d6\u30fc\u30e1\u30e9\u30f3\u300d\u3068\u547c\u3070\u308c\u308b\u306e\u304b\uff08\u547d\u540d\u306e\u6b74\u53f2\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u672c\u75c7\u306e\u540d\u79f0\u306f\u3001\u653e\u5c04\u7dda\u79d1\u533b\u306eKozlowski\u3068Sillence\u3089\u304c1985\u5e74\u306b\u5831\u544a\u3057\u305f\u75c7\u4f8b\u306b\u7531\u6765\u3057\u307e\u3059\u3002\u63b2\u8f09\u5148\u306f\u82f1\u56fd\u533b\u5b66\u8a8c<em>British Journal of Radiology<\/em>\u3067\u3059\u3002\u5927\u817f\u9aa8\u3084\u4e0a\u8155\u9aa8\u304c\u8457\u3057\u304f\u5f2f\u66f2\u3057\u3001\u4e21\u7aef\u304c\u4f4e\u5f62\u6210\u3067\u4e2d\u592e\u90e8\u304c\u5c16\u3063\u305f\u5f62\u72b6\u3067\u3059\u3002\u6295\u3052\u308b\u3068\u624b\u5143\u306b\u623b\u3063\u3066\u304f\u308b\u6728\u88fd\u306e\u9053\u5177\u300c\u30d6\u30fc\u30e1\u30e9\u30f3\u300d\u306b\u306a\u305e\u3089\u3048\u3066\u547d\u540d\u3055\u308c\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<p>\u539f\u56e0\u907a\u4f1d\u5b50\u3067\u3042\u308bFLNB\u306e\u5909\u7570\u304c\u7279\u5b9a\u3055\u308c\u305f\u306e\u306f\u3001\u305d\u308c\u304b\u3089\u7d0420\u5e74\u5f8c\u306e2005\u5e74\u3067\u3059\u3002\u7c73\u56fd\u3068\u6b27\u5dde\u306e\u5171\u540c\u7814\u7a76\u30c1\u30fc\u30e0\u304c\u3001\u60a3\u80052\u4f8b\u304b\u3089FLNB\u907a\u4f1d\u5b50\u5185\u306e\u5909\u7570\uff08L171R\u3001S235P\uff09\u3092\u540c\u5b9a\u3057\u307e\u3057\u305f\u3002\u3044\u305a\u308c\u3082\u30d5\u30a3\u30e9\u30df\u30f3B\u306e\u30a2\u30af\u30c1\u30f3\u7d50\u5408\u30c9\u30e1\u30a4\u30f3\u3068\u3044\u3046\u3001\u9032\u5316\u7684\u306b\u4fdd\u5b58\u3055\u308c\u305f\u91cd\u8981\u306a\u9818\u57df\u306b\u4f4d\u7f6e\u3059\u308b\u5909\u7570\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%83%95%E3%82%A3%E3%83%A9%E3%83%9F%E3%83%B3B%E3%81%AE%E5%BD%B9%E5%89%B2%E3%81%A8%E9%AA%A8%E5%BD%A2%E6%88%90\"><\/span><strong>\u30d5\u30a3\u30e9\u30df\u30f3B\u306e\u5f79\u5272\u3068\u9aa8\u5f62\u6210<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>FLNB\u907a\u4f1d\u5b50\u306f\u3001\u30a2\u30af\u30c1\u30f3\u30d5\u30a3\u30e9\u30e1\u30f3\u30c8\u3092\u67b6\u6a4b\u3057\u3001\u7d30\u80de\u9aa8\u683c\u3092\u69cb\u9020\u5316\u3059\u308b\u30bf\u30f3\u30d1\u30af\u8cea\u300c\u30d5\u30a3\u30e9\u30df\u30f3B\u300d\u3092\u7b26\u53f7\u5316\u3057\u3066\u3044\u307e\u3059\u3002\u9aa8\u306e\u4f38\u9577\u3068\u5f62\u72b6\u6c7a\u5b9a\u306b\u4e0d\u53ef\u6b20\u306a\u3001\u8edf\u9aa8\u7d30\u80de\u306e\u5897\u6b96\u30fb\u5206\u5316\u30fb\u904a\u8d70\u3092\u652f\u3048\u308b\u9375\u3068\u306a\u308b\u30bf\u30f3\u30d1\u30af\u8cea\u3002\u305d\u308c\u304c\u30d5\u30a3\u30e9\u30df\u30f3B\u306e\u6b63\u4f53\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u672c\u75c7\u3092\u5f15\u304d\u8d77\u3053\u3059\u5909\u7570\u306f\u3001\u591a\u304f\u304c\u30d5\u30a3\u30e9\u30df\u30f3B\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u7279\u5b9a\u306e\u30c9\u30e1\u30a4\u30f3\u306b\u304a\u3051\u308b\u6a5f\u80fd\u7372\u5f97\u578b\u5909\u7570\uff08gain-of-function\uff09\u3067\u3059\u3002\u7279\u306b\u30a2\u30af\u30c1\u30f3\u7d50\u5408\u30c9\u30e1\u30a4\u30f3\u4ed8\u8fd1\u306b\u96c6\u4e2d\u3057\u3066\u3044\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u5909\u7570\u306b\u3088\u308a\u8edf\u9aa8\u7d30\u80de\u306e\u5206\u5316\u30d7\u30ed\u30bb\u30b9\u304c\u4e71\u308c\u3001\u6b63\u5e38\u306a\u9aa8\u306e\u92f3\u578b\u304c\u5f62\u6210\u3055\u308c\u306a\u304f\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"FLNB%E9%96%A2%E9%80%A3%E7%96%BE%E6%82%A3%E3%81%AE%E4%B8%AD%E3%81%A7%E3%81%AE%E4%BD%8D%E7%BD%AE%E3%81%A5%E3%81%91%EF%BC%88AO1%E3%82%B9%E3%83%9A%E3%82%AF%E3%83%88%E3%83%A9%E3%83%A0%EF%BC%89\"><\/span><strong>FLNB\u95a2\u9023\u75be\u60a3\u306e\u4e2d\u3067\u306e\u4f4d\u7f6e\u3065\u3051\uff08AO1\u30b9\u30da\u30af\u30c8\u30e9\u30e0\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u7c73\u56fd\u56fd\u7acb\u533b\u5b66\u56f3\u66f8\u9928\u304c\u516c\u958b\u3059\u308b\u5c02\u9580\u5bb6\u5411\u3051\u533b\u5b66\u6587\u732e<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK2534\/\" target=\"_blank\" rel=\"noopener\">GeneReviews\u300cFLNB-Related Disorders\u300d<\/a>\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u306e\u4e2d\u3067\u3001FLNB\u907a\u4f1d\u5b50\u306e\u540c\u4e00\u7cfb\u7d71\u306e\u5909\u7570\uff08\u9855\u6027\u30fb\u6a5f\u80fd\u7372\u5f97\u578b\uff09\u306f\u3001\u9023\u7d9a\u3057\u305f\u91cd\u75c7\u5ea6\u306e\u30b9\u30da\u30af\u30c8\u30e9\u30e0\uff08\u300cFLNB-AO1\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u300d\uff09\u3092\u5f62\u6210\u3059\u308b\u3068\u6574\u7406\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u7bc4\u56f2\u306f\u3001\u75c7\u72b6\u306e\u307b\u3068\u3093\u3069\u306a\u3044\u5148\u5929\u6027\u5185\u53cd\u8db3\u304b\u3089\u3001Larsen\u75c7\u5019\u7fa4\u3001Atelosteogenesis III\u578b\u3001\u305d\u3057\u3066\u5468\u7523\u671f\u81f4\u6b7b\u6027\u306eAtelosteogenesis I\u578b\u307e\u3067\u53ca\u3073\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u30d6\u30fc\u30e1\u30e9\u30f3\u9aa8\u7570\u5f62\u6210\u75c7\u306f\u3001\u304b\u3064\u3066\u72ec\u7acb\u3057\u305f\u75be\u60a3\u540d\u3068\u3057\u3066\u6271\u308f\u308c\u3066\u304d\u307e\u3057\u305f\u3002\u3057\u304b\u3057\u73fe\u5728\u306e\u5206\u985e\u3067\u306f\u3001\u6700\u3082\u91cd\u3044\u5074\u306b\u3042\u308bAtelosteogenesis I\u578b\u3068\u81e8\u5e8a\u50cf\u30fb\u907a\u4f1d\u5b66\u7684\u80cc\u666f\u304c\u6975\u3081\u3066\u8fd1\u3044\u3068\u3055\u308c\u307e\u3059\u3002\u540c\u4e00\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u306b\u542b\u307e\u308c\u308b\u8868\u73fe\u578b\u306e\u4e00\u3064\u3068\u3057\u3066\u4f4d\u7f6e\u3065\u3051\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E8%87%A8%E5%BA%8A%E7%9A%84%E3%83%BB%E6%94%BE%E5%B0%84%E7%B7%9A%E5%AD%A6%E7%9A%84%E7%89%B9%E5%BE%B4\"><\/span><strong>2. \u81e8\u5e8a\u7684\u30fb\u653e\u5c04\u7dda\u5b66\u7684\u7279\u5fb4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u672c\u75c7\u306e\u8a3a\u65ad\u306f\u3001\u51fa\u751f\u524d\u8d85\u97f3\u6ce2\u691c\u67fb\u3084\u51fa\u751f\u76f4\u5f8c\u306e\u5168\u8eab\u9aa8\u30ec\u30f3\u30c8\u30b2\u30f3\u5199\u771f\u306b\u304a\u3051\u308b\u3001\u6975\u3081\u3066\u7279\u5fb4\u7684\u306a\u6240\u898b\u306b\u3088\u3063\u3066\u306a\u3055\u308c\u307e\u3059\u3002<\/strong>\u9aa8\u3060\u3051\u3067\u306a\u304f\u3001\u9854\u8c8c\u30fb\u95a2\u7bc0\u30fb\u8133\u30fb\u8179\u58c1\u306b\u3082\u6240\u898b\u304c\u53ca\u3076\u70b9\u304c\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A0_%E9%95%B7%E7%AE%A1%E9%AA%A8%E3%81%AE%E3%80%8C%E3%83%96%E3%83%BC%E3%83%A1%E3%83%A9%E3%83%B3%E6%A7%98%E3%80%8D%E5%BC%AF%E6%9B%B2%E3%81%A8%E9%AA%A8%E5%8C%96%E4%B8%8D%E5%85%A8\"><\/span><strong>\u2460 \u9577\u7ba1\u9aa8\u306e\u300c\u30d6\u30fc\u30e1\u30e9\u30f3\u69d8\u300d\u5f2f\u66f2\u3068\u9aa8\u5316\u4e0d\u5168<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7279\u7570\u306a\u5f62\u72b6\uff1a<\/strong> \u4e0a\u8155\u9aa8\u3084\u5927\u817f\u9aa8\u304c\u8457\u3057\u304f\u77ed\u7e2e\u3057\u3001\u5f13\u72b6\u306b\u5f2f\u66f2\u3057\u307e\u3059\u3002\u9aa8\u306e\u4e21\u7aef\u304c\u4f4e\u5f62\u6210\uff08\u3042\u308b\u3044\u306f\u6b20\u640d\uff09\u3057\u3001\u4e2d\u592e\u90e8\u304c\u30d6\u30fc\u30e1\u30e9\u30f3\u306e\u3088\u3046\u306b\u5c16\u3063\u305f\u5f62\u72b6\u3092\u5448\u3059\u308b\u306e\u304c\u6700\u5927\u306e\u7279\u5fb4\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u9aa8\u5316\u4e0d\u5168\uff1a<\/strong> \u690e\u4f53\u3084\u9aa8\u76e4\u3001\u808b\u9aa8\u3001\u624b\u8db3\u306e\u9aa8\u306b\u304a\u3044\u3066\u3082\u5e83\u7bc4\u306a\u9aa8\u5316\u306e\u9045\u5ef6\u3084\u6b20\u640d\u304c\u8a8d\u3081\u3089\u308c\u307e\u3059\u3002\u80f8\u90ed\u306e\u4f4e\u5f62\u6210\u306f\u3001\u5f8c\u8ff0\u3059\u308b\u547c\u5438\u4e0d\u5168\u306b\u76f4\u7d50\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A1_%E9%A1%94%E8%B2%8C%E3%83%BB%E9%A0%AD%E8%93%8B%E3%83%BB%E8%85%B9%E5%A3%81%E3%81%AE%E6%89%80%E8%A6%8B\"><\/span><strong>\u2461 \u9854\u8c8c\u30fb\u982d\u84cb\u30fb\u8179\u58c1\u306e\u6240\u898b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u7c73\u56fd\u56fd\u7acb\u885b\u751f\u7814\u7a76\u6240\uff08NIH\uff09\u306e\u5e0c\u5c11\u75be\u60a3\u60c5\u5831\u30bb\u30f3\u30bf\u30fc\u306b<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/933\/boomerang-dysplasia\" target=\"_blank\" rel=\"noopener\">GARD\uff08Genetic and Rare Diseases Information Center\uff09<\/a>\u304c\u3042\u308a\u307e\u3059\u3002GARD\u3067\u306f\u3001\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u6240\u898b\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4e2d\u592e\u9854\u9762\u306e\u4f4e\u5f62\u6210\uff1a<\/strong> \u9f3b\u6839\u90e8\u304c\u9665\u51f9\u3057\u3001\u9f3b\u7ffc\u304c\u5e45\u5e83\u304f\u9f3b\u5b54\u304c\u5c0f\u3055\u3044\u306e\u304c\u7279\u5fb4\u3067\u3059\u3002\u984d\u304c\u7a81\u51fa\u3057\u305f\u300c\u524d\u982d\u90e8\u7a81\u51fa\u300d\u3082\u9855\u8457\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u53e3\u84cb\u88c2\u30fb\u5c0f\u984e\u75c7\uff1a<\/strong> \u4e0b\u984e\u304c\u8457\u3057\u304f\u5c0f\u3055\u304f\u3001\u3053\u308c\u304c\u6c17\u9053\u78ba\u4fdd\u306e\u56f0\u96e3\u3055\u306b\u76f4\u7d50\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8133\u7624\uff08encephalocele\uff09\uff1a<\/strong> \u982d\u84cb\u9aa8\u306e\u5f62\u6210\u4e0d\u5168\u306b\u4f34\u3044\u3001\u8133\u306e\u4e00\u90e8\u304c\u982d\u84cb\u5916\u306b\u7a81\u51fa\u3059\u308b\u6240\u898b\u304c\u5831\u544a\u4f8b\u306b\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8179\u58c1\u6b20\u640d\uff1a<\/strong> \u81cd\u5e2f\u30d8\u30eb\u30cb\u30a2\u306a\u3069\u306e\u8179\u58c1\u9589\u9396\u4e0d\u5168\u3092\u5408\u4f75\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A2_%E5%A4%9A%E7%99%BA%E6%80%A7%E9%96%A2%E7%AF%80%E6%8B%98%E7%B8%AE\"><\/span><strong>\u2462 \u591a\u767a\u6027\u95a2\u7bc0\u62d8\u7e2e<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8098\u30fb\u819d\u30fb\u80a1\u95a2\u7bc0\u306a\u3069\u306e\u5927\u304d\u306a\u95a2\u7bc0\u306b\u304a\u3044\u3066\u3001\u51fa\u751f\u6642\u304b\u3089\u5f37\u56fa\u306a\u62d8\u7e2e\u3084\u8131\u81fc\u304c\u898b\u3089\u308c\u307e\u3059\u3002\u5185\u53cd\u8db3\uff08\u30af\u30e9\u30d6\u30d5\u30c3\u30c8\uff09\u3092\u4f34\u3046\u3053\u3068\u3082\u5c11\u306a\u304f\u3042\u308a\u307e\u305b\u3093\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=\"3_%E8%A8%BA%E6%96%AD%E3%81%A8%E9%91%91%E5%88%A5%E8%A8%BA%E6%96%AD%EF%BC%9AFLNB%E9%96%A2%E9%80%A3%E7%96%BE%E6%82%A3%E3%82%B9%E3%83%9A%E3%82%AF%E3%83%88%E3%83%A9%E3%83%A0%E3%81%AE%E4%B8%AD%E3%81%A7\"><\/span><strong>3. \u8a3a\u65ad\u3068\u9451\u5225\u8a3a\u65ad\uff1aFLNB\u95a2\u9023\u75be\u60a3\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u306e\u4e2d\u3067<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>FLNB\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306f\u3001\u305d\u306e\u5909\u7570\u90e8\u4f4d\u3084\u6027\u8cea\u306b\u3088\u3063\u3066\u3001\u8efd\u75c7\u304b\u3089\u81f4\u6b7b\u6027\u307e\u3067\u5e45\u5e83\u3044\u75be\u60a3\u7fa4\u3092\u5f62\u6210\u3057\u307e\u3059\u3002<\/strong>\u6b63\u78ba\u306a\u9451\u5225\u304c\u3001\u305d\u306e\u5f8c\u306e\u7ba1\u7406\u65b9\u91dd\u3084\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u5185\u5bb9\u3092\u5de6\u53f3\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%91%91%E5%88%A5%E3%81%99%E3%81%B9%E3%81%8D%E4%B8%BB%E8%A6%81%E3%81%AAFLNB%E9%96%A2%E9%80%A3%E7%96%BE%E6%82%A3\"><\/span><strong>\u9451\u5225\u3059\u3079\u304d\u4e3b\u8981\u306aFLNB\u95a2\u9023\u75be\u60a3<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<figure class=\"wp-block-table\"><table class=\"has-fixed-layout\"><thead><tr><th><strong>\u75be\u60a3\u540d<\/strong><\/th><th><strong>\u91cd\u75c7\u5ea6<\/strong><\/th><th><strong>\u4e3b\u306a\u7279\u5fb4\uff08\u672c\u75c7\u3068\u306e\u9055\u3044\uff09<\/strong><\/th><\/tr><\/thead><tbody><tr><td><strong>\u30d6\u30fc\u30e1\u30e9\u30f3\u9aa8\u7570\u5f62\u6210\u75c7<\/strong><\/td><td>\u5468\u7523\u671f\u81f4\u6b7b\u6027<\/td><td><strong>\u6700\u3082\u91cd\u75c7\u306a\u5074\u3002<\/strong> \u9577\u7ba1\u9aa8\u306e\u8457\u3057\u3044\u5f2f\u66f2\u3068\u5c16\u3063\u305f\u5148\u7aef\u3001\u5e83\u7bc4\u306a\u9aa8\u5316\u4e0d\u5168\u3002<\/td><\/tr><tr><td><strong>Atelosteogenesis I\u578b<\/strong><\/td><td>\u5468\u7523\u671f\u81f4\u6b7b\u6027<\/td><td>\u81e8\u5e8a\u50cf\u30fb\u91cd\u75c7\u5ea6\u304c\u30d6\u30fc\u30e1\u30e9\u30f3\u9aa8\u7570\u5f62\u6210\u75c7\u3068\u6975\u3081\u3066\u8fd1\u304f\u3001\u540c\u4e00\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u306b\u542b\u307e\u308c\u308b\u3002<\/td><\/tr><tr><td><strong>Atelosteogenesis III\u578b<\/strong><\/td><td>\u81f4\u6b7b\u6027\u301c\u91cd\u75c7\uff08\u751f\u5b58\u4f8b\u3042\u308a\uff09<\/td><td>\u9aa8\u5316\u4e0d\u5168\u306f\u898b\u3089\u308c\u308b\u304c\u3001\u9577\u7ba1\u9aa8\u306e\u5f2f\u66f2\u306f\u672c\u75c7\u307b\u3069\u9855\u8457\u3067\u306f\u306a\u3044\u3002<\/td><\/tr><tr><td><strong>Larsen\u75c7\u5019\u7fa4<\/strong><\/td><td>\u975e\u81f4\u6b7b\u6027<\/td><td>\u591a\u767a\u95a2\u7bc0\u8131\u81fc\u304c\u4e3b\u4f53\u3002\u9577\u7ba1\u9aa8\u306e\u81f4\u547d\u7684\u306a\u5909\u5f62\u306f\u4f34\u308f\u306a\u3044\u3002<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<p>\u8868\u306e\u3068\u304a\u308a\u3001\u540c\u3058FLNB\u907a\u4f1d\u5b50\u304c\u539f\u56e0\u3067\u3082\u3001\u5909\u7570\u306e\u90e8\u4f4d\u3084\u6027\u8cea\u306b\u3088\u3063\u3066\u660e\u6697\u304c\u5927\u304d\u304f\u5206\u304b\u308c\u307e\u3059\u3002\u3044\u308f\u3070\u3001\u540c\u3058\u8a2d\u8a08\u56f3\u306e\u4e2d\u306e\u308f\u305a\u304b\u306a\u9055\u3044\u304c\u751f\u6b7b\u3092\u5206\u3051\u308b\u5883\u754c\u7dda\u3002\u95a2\u9023\u75be\u60a3\u306b\u3064\u3044\u3066\u8a73\u3057\u304f\u306f\u3001\u305d\u308c\u305e\u308c\u306e\u89e3\u8aac\u8a18\u4e8b\u3082\u3042\u308f\u305b\u3066\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/atelosteogenesis-type-1-flnb-mutation\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u30a2\u30c6\u30ed\u30b9\u30c6\u30aa\u30b8\u30a7\u30cd\u30b7\u30b91\u578b(AO1)\u3068\u306f\uff5cFLNB\u907a\u4f1d\u5b50\u75be\u60a3 <\/div>\n          <div class=\"blog-card-excerpt\">Atelosteogenesis, type I (AO1)\u306e\u539f\u56e0\u907a\u4f1d\u5b50FLNB\u306e\u5909\u7570\u3001\u7279\u5fb4\u7684\u306a\u9aa8\u683c\u7570\u5e38\u3001\u8a3a\u65ad\u57fa\u6e96\u3092\u5c02\u9580\u7684\u306b\u89e3\u8aac\u3002\u81f4\u6b7b\u6027\u9aa8\u7570...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n    <a href=\"\/nipt\/atelosteogenesis-type-3-flnb-clinical-management\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u30a2\u30c6\u30ed\u30b9\u30c6\u30aa\u30b8\u30a7\u30cd\u30b7\u30b93\u578b\u3068\u306f\uff5cFLNB\u907a\u4f1d\u5b50\u3068\u75c7\u72b6\u30fb\u6cbb\u7642 <\/div>\n          <div class=\"blog-card-excerpt\">Atelosteogenesis, type III (AO3)\u3092\u8a73\u3057\u304f\u89e3\u8aac\u3002FLNB\u907a\u4f1d\u5b50\u5909\u7570\u306b\u3088\u308b\u9aa8\u683c\u7570\u5e38\u3084\u591a\u767a\u95a2\u7bc0\u8131\u81fc\u306e\u7279\u5fb4\u3001AO1\uff08...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n    <a href=\"\/nipt\/larsen-syndrome-guide\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u30e9\u30fc\u30bb\u30f3\u75c7\u5019\u7fa4\uff08Larsen Syndrome\uff09 <\/div>\n          <div class=\"blog-card-excerpt\">\u30e9\u30fc\u30bb\u30f3\u75c7\u5019\u7fa4\u3068\u8a3a\u65ad\u3055\u308c\u305f\u65b9\u3001\u3054\u5bb6\u65cf\u3078\u3002FLNB\u907a\u4f1d\u5b50\u5909\u7570\u306b\u3088\u308b\u3053\u306e\u75c5\u6c17\u306e\u7279\u5fb4\u3001\u819d\u3084\u80a1\u95a2\u7bc0\u306e\u8131\u81fc\u3001\u7279\u5fb4\u7684\u306a\u9854\u7acb\u3061\u3001\u7279\u306b\u6ce8\u610f\u304c\u5fc5\u8981\u306a\u981a\u690e\u306e\u554f\u984c...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%A8%BA%E6%96%AD%E3%81%AE%E7%A2%BA%E5%AE%9A\"><\/span><strong>\u8a3a\u65ad\u306e\u78ba\u5b9a<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u81e8\u5e8a\u7684\u30fb\u653e\u5c04\u7dda\u5b66\u7684\u6240\u898b\u3067\u672c\u75c7\u3092\u5f37\u304f\u7591\u3046\u5834\u5408\u3001<strong>FLNB\u907a\u4f1d\u5b50\u306e\u30bf\u30fc\u30b2\u30c3\u30c8\u89e3\u6790<\/strong>\u3092\u884c\u3044\u3001\u65e2\u5831\u306e\u5909\u7570\u3068\u4e00\u81f4\u3059\u308b\u304b\u3092\u78ba\u8a8d\u3059\u308b\u3053\u3068\u3067\u8a3a\u65ad\u3092\u78ba\u5b9a\u3057\u307e\u3059\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E9%81%BA%E4%BC%9D%E5%BD%A2%E5%BC%8F%E3%81%A8%E5%AE%B6%E6%97%8F%E3%81%B8%E3%81%AE%E5%BD%B1%E9%9F%BF\"><\/span><strong>4. \u907a\u4f1d\u5f62\u5f0f\u3068\u5bb6\u65cf\u3078\u306e\u5f71\u97ff<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u672c\u75c7\u306f\u5e38\u67d3\u8272\u4f53\u9855\u6027\u907a\u4f1d\u306e\u5f62\u5f0f\u3092\u3068\u308a\u3001\u539f\u56e0\u3068\u306a\u308b\u5909\u7570\u30921\u30b3\u30d4\u30fc\u6301\u3064\u3060\u3051\u3067\u767a\u75c7\u3057\u307e\u3059\u3002<\/strong>\u305f\u3060\u3057\u3001\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u75c7\u4f8b\u306e\u591a\u304f\u306f\u4e21\u89aa\u306b\u898b\u3089\u308c\u306a\u3044\u65b0\u898f\u306e\u5909\u5316\uff08\u30c7\u30ce\u30dc\uff09\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%AC%A1%E5%AD%90%E5%86%8D%E7%99%BA%E3%83%AA%E3%82%B9%E3%82%AF%E3%81%A8%E9%81%BA%E4%BC%9D%E3%82%AB%E3%82%A6%E3%83%B3%E3%82%BB%E3%83%AA%E3%83%B3%E3%82%B0\"><\/span><strong>\u6b21\u5b50\u518d\u767a\u30ea\u30b9\u30af\u3068\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u4e21\u89aa\u306e\u691c\u67fb\u7d50\u679c\u306b\u7570\u5e38\u304c\u306a\u304f\u3066\u3082\u3001\u6b21\u5b50\u3078\u306e\u5f71\u97ff\u306f\u30bc\u30ed\u306b\u306f\u3067\u304d\u307e\u305b\u3093\u3002\u751f\u6b96\u7d30\u80de<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mosaicism\/\">\u30e2\u30b6\u30a4\u30af<\/a>\uff08\u89aa\u306e\u751f\u6b96\u7d30\u80de\u306e\u4e00\u90e8\u3060\u3051\u306b\u5909\u7570\u304c\u3042\u308b\u3053\u3068\uff09\u304c\u7406\u7531\u3067\u3059\u3002\u6b21\u5b50\u3078\u306e\u5f71\u97ff\u304c\u3069\u306e\u7a0b\u5ea6\u304b\u306f\u3001<a href=\"https:\/\/www.jshg.jp\/about\/license\/\" target=\"_blank\" rel=\"noopener\">\u81e8\u5e8a\u907a\u4f1d\u5c02\u9580\u533b\u3084\u8a8d\u5b9a\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc<\/a>\u306b\u3088\u308b\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u3001\u500b\u5225\u306b\u78ba\u8a8d\u3057\u3066\u304f\u3060\u3055\u3044\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\/2026\/01\/34023712_s.webp\" alt=\"\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u5834\u3067\u8aac\u660e\u3092\u884c\u3046\u533b\u5e2b\u306e\u30a4\u30e1\u30fc\u30b8\" class=\"wp-image-121690\"\/><\/figure><\/div>\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"5_%E3%83%9E%E3%83%8D%E3%82%B8%E3%83%A1%E3%83%B3%E3%83%88%E3%81%A8%E4%BA%88%E5%BE%8C\"><\/span><strong>5. \u30de\u30cd\u30b8\u30e1\u30f3\u30c8\u3068\u4e88\u5f8c<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u30d6\u30fc\u30e1\u30e9\u30f3\u9aa8\u7570\u5f62\u6210\u75c7\u306f\u5468\u7523\u671f\u81f4\u6b7b\u6027\u306e\u9aa8\u7570\u5f62\u6210\u75c7\u306b\u5206\u985e\u3055\u308c\u3001\u6975\u3081\u3066\u4e88\u5f8c\u304c\u53b3\u3057\u3044\u75be\u60a3\u3067\u3059\u3002<\/strong>\u73fe\u6642\u70b9\u3067\u6839\u6cbb\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%91%A8%E7%94%A3%E6%9C%9F%E3%81%AE%E8%87%A8%E5%BA%8A%E7%B5%8C%E9%81%8E\"><\/span><strong>\u5468\u7523\u671f\u306e\u81e8\u5e8a\u7d4c\u904e<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u547c\u5438\u4e0d\u5168\uff1a<\/strong> \u80f8\u90ed\u306e\u8457\u3057\u3044\u4f4e\u5f62\u6210\uff08\u80ba\u4f4e\u5f62\u6210\uff09\u304a\u3088\u3073\u6c17\u9053\u4e0a\u90e8\u306e\u69cb\u9020\u7570\u5e38\u306b\u3088\u308a\u3001\u51fa\u751f\u76f4\u5f8c\u304b\u3089\u91cd\u5ea6\u306e\u547c\u5438\u4e0d\u5168\u3092\u5448\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5468\u7523\u671f\u306e\u8ee2\u5e30\uff1a<\/strong> \u6b7b\u7523\u3001\u3042\u308b\u3044\u306f\u51fa\u751f\u5f8c\u307e\u3082\u306a\u304f\u4ea1\u304f\u306a\u308b\u30b1\u30fc\u30b9\u304c\u5927\u534a\u3092\u5360\u3081\u307e\u3059\u3002\u751f\u5b58\u3055\u308c\u305f\u5831\u544a\u4f8b\u306f\u3054\u304f\u308f\u305a\u304b\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u81e8\u5e8a\u306e\u73fe\u5834\u3067\u306f\u3001\u300c\u30d6\u30fc\u30e1\u30e9\u30f3\u300d\u3068\u3044\u3046\u97ff\u304d\u306e\u67d4\u3089\u304b\u3055\u3068\u3001\u5b9f\u969b\u306e\u75c5\u540d\u306e\u91cd\u3055\u3068\u306e\u30ae\u30e3\u30c3\u30d7\u306b\u6238\u60d1\u308f\u308c\u308b\u3054\u5bb6\u65cf\u306e\u59ff\u3092\u3001\u5e7e\u5ea6\u3082\u76ee\u306b\u3057\u3066\u304d\u307e\u3057\u305f\u3002\u73fe\u4ee3\u306e\u65b0\u751f\u5150\u96c6\u4e2d\u6cbb\u7642\uff08NICU\uff09\u306b\u304a\u3044\u3066\u3082\u6839\u6cbb\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u5b58\u5728\u305b\u305a\u3001\u59d1\u606f\u7684\u306a\u5bfe\u75c7\u7642\u6cd5\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%8F%BE%E5%9C%A8%E3%81%AE%E5%8C%BB%E7%99%82%E3%81%A7%E3%81%A7%E3%81%8D%E3%82%8B%E3%81%93%E3%81%A8\"><\/span><strong>\u73fe\u5728\u306e\u533b\u7642\u3067\u3067\u304d\u308b\u3053\u3068<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u51fa\u751f\u524d\u306b\u8a3a\u65ad\u304c\u3064\u3044\u3066\u3044\u308b\u5834\u5408\u3001\u5206\u5a29\u65b9\u6cd5\u3084\u51fa\u751f\u5f8c\u306e\u30b1\u30a2\u65b9\u91dd\u306e\u76f8\u8ac7\u304c\u6b20\u304b\u305b\u307e\u305b\u3093\u3002\u7523\u79d1\u533b\u30fb\u5c0f\u5150\u79d1\u533b\u30fb\u81e8\u5e8a\u907a\u4f1d\u5c02\u9580\u533b\u304c\u9023\u643a\u3057\u305f\u30c1\u30fc\u30e0\u3067\u3001\u4e8b\u524d\u306b\u3054\u5bb6\u65cf\u3068\u8a71\u3057\u5408\u3063\u3066\u304a\u304f\u3053\u3068\u304c\u91cd\u8981\u3067\u3059\u3002\u533b\u7642\u5f93\u4e8b\u8005\u306b\u306f\u3001\u6b63\u78ba\u306a\u533b\u5b66\u7684\u60c5\u5831\u306e\u63d0\u4f9b\u3068\u3001\u5fc3\u7406\u7684\u306a\u793e\u4f1a\u7684\u652f\u63f4\u306e\u4e21\u65b9\u304c\u6c42\u3081\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"6_%E5%A6%8A%E5%A8%A0%E4%B8%AD%E3%81%AENIPT%E3%81%A8%E3%81%AE%E9%96%A2%E4%BF%82\"><\/span><strong>6. \u598a\u5a20\u4e2d\u306eNIPT\u3068\u306e\u95a2\u4fc2<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u30d6\u30fc\u30e1\u30e9\u30f3\u9aa8\u7570\u5f62\u6210\u75c7\u306f\u3001FLNB\u3068\u3044\u3046\u4e00\u3064\u306e\u907a\u4f1d\u5b50\u306e\u5909\u5316\u306b\u3088\u3063\u3066\u8d77\u3053\u308b\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u3067\u3059\u3002<\/strong>NIPT\u306e\u57fa\u672c\u691c\u67fb\u3067\u8abf\u3079\u308b21\u30fb18\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/patau-syndrome\/\">13\u30c8\u30ea\u30bd\u30df\u30fc<\/a>\u306a\u3069\u306e\u67d3\u8272\u4f53\u6570\u306e\u7570\u5e38\u3068\u306f\u3001\u691c\u51fa\u306e\u4ed5\u7d44\u307f\u304c\u307e\u3063\u305f\u304f\u7570\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u307e\u3067\u5bfe\u8c61\u7bc4\u56f2\u3092\u5e83\u3052\u305f\u62e1\u5927NIPT\u306e\u30d7\u30e9\u30f3\u304c\u3042\u308a\u307e\u3059\u3002\u30d7\u30e9\u30f3\u306b\u3088\u3063\u3066\u306f\u3001FLNB\u3092\u542b\u3080\u6570\u767e\u7a2e\u985e\u306e\u907a\u4f1d\u5b50\u3092\u5bfe\u8c61\u3068\u3059\u308b\u691c\u67fb\u9805\u76ee\u304c\u7528\u610f\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u305f\u3060\u3057\u3001\u5bfe\u5fdc\u3059\u308b\u75be\u60a3\u306e\u7bc4\u56f2\u3084\u89e3\u6790\u611f\u5ea6\u306f\u691c\u67fb\u65bd\u8a2d\u30fb\u30d7\u30e9\u30f3\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u3054\u81ea\u8eab\u304c\u691c\u8a0e\u3057\u3066\u3044\u308b\u691c\u67fb\u30d7\u30e9\u30f3\u304cFLNB\u95a2\u9023\u75be\u60a3\u307e\u3067\u5bfe\u8c61\u306b\u542b\u3080\u304b\u3069\u3046\u304b\u306f\u3001\u691c\u67fb\u3092\u53d7\u3051\u308b\u65bd\u8a2d\u306b\u76f4\u63a5\u554f\u3044\u5408\u308f\u305b\u3066\u78ba\u8a8d\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/strong><\/p>\n\n\n\n<p>\u3082\u3046\u4e00\u3064\u77e5\u3063\u3066\u304a\u3044\u3066\u3044\u305f\u3060\u304d\u305f\u3044\u306e\u306f\u3001<strong>NIPT\u306f\u3042\u304f\u307e\u3067\u975e\u78ba\u5b9a\u7684\u306a\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u691c\u67fb\u3060\u3068\u3044\u3046\u70b9\u3067\u3059\u3002<\/strong>\u967d\u6027\u6240\u898b\u3084\u6c17\u306b\u306a\u308b\u7d50\u679c\u304c\u51fa\u305f\u5834\u5408\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u306a\u3069\u306b\u3088\u308b\u78ba\u5b9a\u691c\u67fb\u3067\u8a3a\u65ad\u3092\u56fa\u3081\u308b\u6d41\u308c\u306b\u306a\u308a\u307e\u3059\u3002\u9aa8\u7cfb\u7d71\u75be\u60a3\u306f\u51fa\u751f\u524d\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u5148\u306b\u6307\u6458\u3055\u308c\u308b\u3053\u3068\u3082\u591a\u304f\u3001\u7591\u308f\u308c\u308b\u5834\u5408\u306fFLNB\u907a\u4f1d\u5b50\u306e\u89e3\u6790\u3092\u542b\u3080\u7cbe\u5bc6\u691c\u67fb\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u4eca\u56de\u3001\u3053\u306e\u75be\u60a3\u306b\u3064\u3044\u3066\u56fd\u5185\u306e\u5b9f\u4f53\u9a13\u306b\u57fa\u3065\u304f\u6295\u7a3f\u3092X\uff08\u65e7Twitter\uff09\u3067\u63a2\u3057\u307e\u3057\u305f\u304c\u3001\u8a72\u5f53\u3059\u308b\u6295\u7a3f\u306f\u898b\u5f53\u305f\u308a\u307e\u305b\u3093\u3067\u3057\u305f\u3002\u5468\u7523\u671f\u81f4\u6b7b\u6027\u306e\u6975\u3081\u3066\u7a00\u306a\u75be\u60a3\u3067\u3042\u308b\u305f\u3081\u3001\u4e00\u6b21\u60c5\u5831\u304c\u4e4f\u3057\u3044\u306e\u306f\u81ea\u7136\u306a\u3053\u3068\u3067\u3059\u3002\u672c\u8a18\u4e8b\u3067\u306f\u4ee3\u308f\u308a\u306b\u3001GARD\u30fbGeneReviews\u306a\u3069\u516c\u7684\u6a5f\u95a2\u306e\u60c5\u5831\u3068\u3001Kozlowski\u3089\uff081985\u5e74\uff09\u304a\u3088\u3073Bicknell\u3089\uff082005\u5e74\uff09\u306e\u5b66\u8853\u8ad6\u6587\u3092\u6839\u62e0\u3068\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<div class=\"wp-block-buttons is-content-justification-center is-layout-flex wp-container-core-buttons-is-layout-16018d1d wp-block-buttons-is-layout-flex\">\n<div class=\"wp-block-button\"><a class=\"wp-block-button__link wp-element-button\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/plan-finder\/\" target=\"_blank\" rel=\"noopener\">\u30d7\u30e9\u30f3\u8a3a\u65ad\u3067\u81ea\u5206\u306b\u5408\u3046\u691c\u67fb\u3092\u63a2\u3059<\/a><\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"7_%E3%81%94%E5%AE%B6%E6%97%8F%E3%81%B8%E3%81%AE%E3%83%A1%E3%83%83%E3%82%BB%E3%83%BC%E3%82%B8\"><\/span><strong>7. \u3054\u5bb6\u65cf\u3078\u306e\u30e1\u30c3\u30bb\u30fc\u30b8<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306e\u8a3a\u65ad\u306f\u3001\u3054\u5bb6\u65cf\u306b\u3068\u3063\u3066\u975e\u5e38\u306b\u56f0\u96e3\u306a\u73fe\u5b9f\u3092\u7a81\u304d\u3064\u3051\u308b\u3082\u306e\u3068\u306a\u308a\u307e\u3059\u3002\u300c\u306a\u305c\u81ea\u5206\u305f\u3061\u306b\u300d\u3068\u3044\u3046\u554f\u3044\u306b\u3001\u533b\u5b66\u306f\u660e\u78ba\u306a\u7b54\u3048\u3092\u7528\u610f\u3067\u304d\u306a\u3044\u3053\u3068\u304c\u307b\u3068\u3093\u3069\u3067\u3059\u3002\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u73fe\u5834\u3067\u3001\u305d\u306e\u3082\u3069\u304b\u3057\u3055\u306b\u5411\u304d\u5408\u3046\u3054\u5bb6\u65cf\u3068\u63a5\u3059\u308b\u305f\u3073\u3001\u6b63\u78ba\u306a\u60c5\u5831\u3068\u540c\u3058\u3060\u3051\u3001\u5bc4\u308a\u6dfb\u3046\u59ff\u52e2\u304c\u5927\u5207\u3060\u3068\u5b9f\u611f\u3057\u3066\u304d\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<p>\u8a3a\u65ad\u540d\u3060\u3051\u3092\u898b\u3066\u3001\u6f20\u7136\u3068\u3057\u305f\u4e0d\u5b89\u3092\u62b1\u3048\u3066\u3044\u308b\u65b9\u3082\u3044\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002\u30c7\u30ce\u30dc\u5909\u7570\u306b\u3088\u308b\u767a\u75c7\u304c\u5927\u534a\u3067\u3042\u308b\u3053\u3068\u3001\u6b21\u5b50\u3078\u306e\u5f71\u97ff\u306f\u500b\u5225\u306e\u72b6\u6cc1\u3067\u5927\u304d\u304f\u7570\u306a\u308b\u3053\u3068\u3092\u3001\u307e\u305a\u306f\u77e5\u3063\u3066\u3044\u305f\u3060\u3051\u308c\u3070\u3068\u601d\u3044\u307e\u3059\u3002\u3072\u3068\u308a\u3067\u62b1\u3048\u8fbc\u307e\u305a\u3001\u81e8\u5e8a\u907a\u4f1d\u5c02\u9580\u533b\u3084\u8a8d\u5b9a\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u306b\u76f8\u8ac7\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n\n\n\n<div class=\"wp-block-buttons is-content-justification-center is-layout-flex wp-container-core-buttons-is-layout-16018d1d wp-block-buttons-is-layout-flex\">\n<div class=\"wp-block-button\"><a class=\"wp-block-button__link wp-element-button\" href=\"https:\/\/mypage-nipt-reservation.hiro-clinic.or.jp\/registration\" target=\"_blank\" rel=\"noopener\">NIPT\u306e\u4e88\u7d04\u306f\u3053\u3061\u3089<\/a><\/div>\n\n\n\n<div class=\"wp-block-button is-style-outline is-style-outline--1\"><a class=\"wp-block-button__link wp-element-button\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/line-registration\/\" target=\"_blank\" rel=\"noopener\">LINE\u3067\u7121\u6599\u76f8\u8ac7\u3059\u308b<\/a><\/div>\n<\/div>\n\n\n\n<p>\u304a\u96fb\u8a71\u3067\u306e\u3054\u76f8\u8ac7\u3082\u53d7\u3051\u4ed8\u3051\u3066\u3044\u307e\u3059\u3002<a href=\"tel:0120169629\">0120-169-629<\/a>\u307e\u3067\u304a\u6c17\u8efd\u306b\u304a\u554f\u3044\u5408\u308f\u305b\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%82%88%E3%81%8F%E3%81%82%E3%82%8B%E8%B3%AA%E5%95%8F\"><\/span><strong>\u3088\u304f\u3042\u308b\u8cea\u554f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%83%96%E3%83%BC%E3%83%A1%E3%83%A9%E3%83%B3%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%AE%E3%82%88%E3%81%86%E3%81%AA%E7%97%85%E6%B0%97%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u30d6\u30fc\u30e1\u30e9\u30f3\u9aa8\u7570\u5f62\u6210\u75c7\u3068\u306f\u3069\u306e\u3088\u3046\u306a\u75c5\u6c17\u3067\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>FLNB\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u8d77\u3053\u308b\u3001\u5468\u7523\u671f\u81f4\u6b7b\u6027\u306e\u6975\u3081\u3066\u7a00\u306a\u9aa8\u7cfb\u7d71\u75be\u60a3\u3067\u3059\u3002\u5927\u817f\u9aa8\u3084\u4e0a\u8155\u9aa8\u304c\u30d6\u30fc\u30e1\u30e9\u30f3\u306e\u3088\u3046\u306b\u5f2f\u66f2\u3059\u308b\u7279\u5fb4\u7684\u306a\u30ec\u30f3\u30c8\u30b2\u30f3\u6240\u898b\u306b\u52a0\u3048\u3001\u9854\u8c8c\u30fb\u95a2\u7bc0\u30fb\u8133\u30fb\u8179\u58c1\u306b\u3082\u6240\u898b\u304c\u53ca\u3073\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%AA%E3%81%9C%E3%80%8C%E3%83%96%E3%83%BC%E3%83%A1%E3%83%A9%E3%83%B3%E3%80%8D%E3%81%A8%E3%81%84%E3%81%86%E5%90%8D%E5%89%8D%E3%81%8C%E3%81%A4%E3%81%84%E3%81%A6%E3%81%84%E3%82%8B%E3%81%AE%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u306a\u305c\u300c\u30d6\u30fc\u30e1\u30e9\u30f3\u300d\u3068\u3044\u3046\u540d\u524d\u304c\u3064\u3044\u3066\u3044\u308b\u306e\u3067\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>1985\u5e74\u306bKozlowski\u30fbSillence\u3089\u304c\u5831\u544a\u3057\u305f\u75c7\u4f8b\u3067\u3001\u9577\u7ba1\u9aa8\u304c\u4e21\u7aef\u306e\u4f4e\u5f62\u6210\u3068\u4e2d\u592e\u306e\u5f2f\u66f2\u306b\u3088\u3063\u3066\u3001\u6295\u3052\u308b\u3068\u623b\u3063\u3066\u304f\u308b\u9053\u5177\u300c\u30d6\u30fc\u30e1\u30e9\u30f3\u300d\u306b\u4f3c\u305f\u5f62\u72b6\u3092\u5448\u3057\u305f\u3053\u3068\u306b\u7531\u6765\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Atelosteogenesis_I%E5%9E%8B%E3%82%84Larsen%E7%97%87%E5%80%99%E7%BE%A4%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%E3%80%82\"><\/span>Atelosteogenesis I\u578b\u3084Larsen\u75c7\u5019\u7fa4\u3068\u306f\u3069\u3046\u9055\u3044\u307e\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3044\u305a\u308c\u3082\u540c\u3058FLNB\u907a\u4f1d\u5b50\u304c\u539f\u56e0\u3067\u3001GeneReviews\u3067\u306f\u300cFLNB-AO1\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u300d\u3068\u3044\u3046\u9023\u7d9a\u3057\u305f\u91cd\u75c7\u5ea6\u306e\u75be\u60a3\u7fa4\u3068\u3057\u3066\u6574\u7406\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u30d6\u30fc\u30e1\u30e9\u30f3\u9aa8\u7570\u5f62\u6210\u75c7\u306f\u3053\u306e\u4e2d\u3067\u6700\u3082\u91cd\u3044\u5074\u306b\u3042\u308a\u3001Atelosteogenesis I\u578b\u3068\u81e8\u5e8a\u50cf\u304c\u8fd1\u3044\u3068\u3055\u308c\u307e\u3059\u3002Larsen\u75c7\u5019\u7fa4\u306f\u975e\u81f4\u6b7b\u6027\u3067\u3001\u591a\u767a\u95a2\u7bc0\u8131\u81fc\u304c\u4e3b\u4f53\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%AD%90%E3%81%A9%E3%82%82%E3%81%AB%E9%81%BA%E4%BC%9D%E3%81%97%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82%E6%AC%A1%E3%81%AE%E5%A6%8A%E5%A8%A0%E3%81%A7%E3%81%AE%E3%83%AA%E3%82%B9%E3%82%AF%E3%81%AF%E3%80%82\"><\/span>\u5b50\u3069\u3082\u306b\u907a\u4f1d\u3057\u307e\u3059\u304b\u3002\u6b21\u306e\u598a\u5a20\u3067\u306e\u30ea\u30b9\u30af\u306f\u3002<span 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id=\"%E5%A6%8A%E5%A8%A0%E4%B8%AD%E3%81%AENIPT%E3%81%A7%E3%81%93%E3%81%AE%E7%97%85%E6%B0%97%E3%81%AF%E3%82%8F%E3%81%8B%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u598a\u5a20\u4e2d\u306eNIPT\u3067\u3053\u306e\u75c5\u6c17\u306f\u308f\u304b\u308a\u307e\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>21\u30fb18\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/patau-syndrome\/\">13\u30c8\u30ea\u30bd\u30df\u30fc<\/a>\u306a\u3069\u306e\u57fa\u672c\u691c\u67fb\u306e\u5bfe\u8c61\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u307e\u3067\u5bfe\u8c61\u3092\u5e83\u3052\u305f\u62e1\u5927NIPT\u306e\u30d7\u30e9\u30f3\u3067\u306f\u3001FLNB\u3092\u542b\u3080\u691c\u67fb\u9805\u76ee\u304c\u3042\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u5bfe\u5fdc\u7bc4\u56f2\u306f\u65bd\u8a2d\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u307e\u3059\u3002\u51fa\u751f\u524d\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u9aa8\u683c\u306e\u7570\u5e38\u304c\u5148\u306b\u6307\u6458\u3055\u308c\u308b\u3053\u3068\u3082\u591a\u304f\u3001\u7591\u308f\u308c\u308b\u5834\u5408\u306fFLNB\u907a\u4f1d\u5b50\u89e3\u6790\u3092\u542b\u3080\u7cbe\u5bc6\u691c\u67fb\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%8C%87%E5%AE%9A%E9%9B%A3%E7%97%85%E3%82%84%E5%8C%BB%E7%99%82%E8%B2%BB%E5%8A%A9%E6%88%90%E3%81%AE%E5%AF%BE%E8%B1%A1%E3%81%AB%E3%81%AA%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u6307\u5b9a\u96e3\u75c5\u3084\u533b\u7642\u8cbb\u52a9\u6210\u306e\u5bfe\u8c61\u306b\u306a\u308a\u307e\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>2026\u5e74\u73fe\u5728\u3001\u56fd\u5185\u306e\u6307\u5b9a\u96e3\u75c5\u30ea\u30b9\u30c8\u306b\u306f\u672c\u75c7\u5358\u72ec\u306e\u9805\u76ee\u3068\u3057\u3066\u306f\u542b\u307e\u308c\u3066\u3044\u307e\u305b\u3093\u3002\u533b\u7642\u8cbb\u52a9\u6210\u3084\u652f\u63f4\u5236\u5ea6\u306b\u3064\u3044\u3066\u306f\u3001\u4e3b\u6cbb\u533b\u3084\u304a\u4f4f\u307e\u3044\u306e\u81ea\u6cbb\u4f53\u306e\u7a93\u53e3\u306b\u78ba\u8a8d\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<p style=\"font-size:0.9em;color:#555;\"><strong>\u76e3\u4fee\uff1a\u5ca1 \u535a\u53f2\uff08\u304a\u304b 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\"\u3044\u305a\u308c\u3082\u540c\u3058FLNB\u907a\u4f1d\u5b50\u304c\u539f\u56e0\u3067\u3001GeneReviews\u3067\u306f\u300cFLNB-AO1\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u300d\u3068\u3044\u3046\u9023\u7d9a\u3057\u305f\u91cd\u75c7\u5ea6\u306e\u75be\u60a3\u7fa4\u3068\u3057\u3066\u6574\u7406\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u30d6\u30fc\u30e1\u30e9\u30f3\u9aa8\u7570\u5f62\u6210\u75c7\u306f\u3053\u306e\u4e2d\u3067\u6700\u3082\u91cd\u3044\u5074\u306b\u3042\u308a\u3001Atelosteogenesis I\u578b\u3068\u81e8\u5e8a\u50cf\u304c\u8fd1\u3044\u3068\u3055\u308c\u307e\u3059\u3002Larsen\u75c7\u5019\u7fa4\u306f\u975e\u81f4\u6b7b\u6027\u3067\u3001\u591a\u767a\u95a2\u7bc0\u8131\u81fc\u304c\u4e3b\u4f53\u3067\u3059\u3002\"\n      }\n    },\n    {\n      \"@type\": \"Question\",\n      \"name\": \"\u5b50\u3069\u3082\u306b\u907a\u4f1d\u3057\u307e\u3059\u304b\u3002\u6b21\u306e\u598a\u5a20\u3067\u306e\u30ea\u30b9\u30af\u306f\u3002\",\n      \"acceptedAnswer\": {\n        \"@type\": \"Answer\",\n        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\"21\u30fb18\u30fb13\u30c8\u30ea\u30bd\u30df\u30fc\u306a\u3069\u306e\u57fa\u672c\u691c\u67fb\u306e\u5bfe\u8c61\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u307e\u3067\u5bfe\u8c61\u3092\u5e83\u3052\u305f\u62e1\u5927NIPT\u306e\u30d7\u30e9\u30f3\u3067\u306f\u3001FLNB\u3092\u542b\u3080\u691c\u67fb\u9805\u76ee\u304c\u3042\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u5bfe\u5fdc\u7bc4\u56f2\u306f\u65bd\u8a2d\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u307e\u3059\u3002\u51fa\u751f\u524d\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u9aa8\u683c\u306e\u7570\u5e38\u304c\u5148\u306b\u6307\u6458\u3055\u308c\u308b\u3053\u3068\u3082\u591a\u304f\u3001\u7591\u308f\u308c\u308b\u5834\u5408\u306fFLNB\u907a\u4f1d\u5b50\u89e3\u6790\u3092\u542b\u3080\u7cbe\u5bc6\u691c\u67fb\u304c\u5fc5\u8981\u3067\u3059\u3002\"\n      }\n    },\n    {\n      \"@type\": \"Question\",\n      \"name\": \"\u6307\u5b9a\u96e3\u75c5\u3084\u533b\u7642\u8cbb\u52a9\u6210\u306e\u5bfe\u8c61\u306b\u306a\u308a\u307e\u3059\u304b\u3002\",\n      \"acceptedAnswer\": {\n        \"@type\": \"Answer\",\n        \"text\": \"2026\u5e74\u73fe\u5728\u3001\u56fd\u5185\u306e\u6307\u5b9a\u96e3\u75c5\u30ea\u30b9\u30c8\u306b\u306f\u672c\u75c7\u5358\u72ec\u306e\u9805\u76ee\u3068\u3057\u3066\u306f\u542b\u307e\u308c\u3066\u3044\u307e\u305b\u3093\u3002\u533b\u7642\u8cbb\u52a9\u6210\u3084\u652f\u63f4\u5236\u5ea6\u306b\u3064\u3044\u3066\u306f\u3001\u4e3b\u6cbb\u533b\u3084\u304a\u4f4f\u307e\u3044\u306e\u81ea\u6cbb\u4f53\u306e\u7a93\u53e3\u306b\u78ba\u8a8d\u3057\u3066\u304f\u3060\u3055\u3044\u3002\"\n      }\n    }\n  ]\n}\n<\/script>\n\n\n<p style=\"font-size:0.85em;color:#777;\">\u53c2\u8003\u60c5\u5831\uff1a<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/933\/boomerang-dysplasia\" target=\"_blank\" rel=\"noopener\">Boomerang dysplasia\uff5cGARD\uff08\u7c73\u56fd\u56fd\u7acb\u885b\u751f\u7814\u7a76\u6240 \u5e0c\u5c11\u75be\u60a3\u60c5\u5831\u30bb\u30f3\u30bf\u30fc\uff09<\/a>\uff0f<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK2534\/\" target=\"_blank\" rel=\"noopener\">FLNB-Related Disorders\uff5cGeneReviews\uff08NCBI Bookshelf\uff09<\/a>\uff0f<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC1736093\/\" target=\"_blank\" rel=\"noopener\">Mutations in FLNB cause boomerang dysplasia\uff08Bicknell\u3089\u30012005\u5e74\uff09\uff5cPMC\uff08\u7c73\u56fd\u56fd\u7acb\u533b\u5b66\u56f3\u66f8\u9928\uff09<\/a>\uff0f<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/4063680\/\" target=\"_blank\" rel=\"noopener\">Boomerang dysplasia\uff08Kozlowski\u3089\u30011985\u5e74\uff09\uff5cPubMed\uff08\u7c73\u56fd\u56fd\u7acb\u533b\u5b66\u56f3\u66f8\u9928\uff09<\/a>\uff0f<a href=\"https:\/\/www.jshg.jp\/about\/license\/\" target=\"_blank\" rel=\"noopener\">\u8cc7\u683c\u8a8d\u5b9a\uff08\u81e8\u5e8a\u907a\u4f1d\u5c02\u9580\u533b\u30fb\u8a8d\u5b9a\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\uff09\uff5c\u65e5\u672c\u4eba\u985e\u907a\u4f1d\u5b66\u4f1a<\/a><\/p>\n\n\n<!--nipt_mono-->\r\n<div class=\"nipt-mono\">\r\n    <div class=\"nipt-mono-btn\">\r\n        <a href=\"\/nipt\/nipt-mono\/\">\r\n            <img decoding=\"async\" loading=\"lazy\" src=\"\/nipt\/wp-content\/uploads\/2026\/03\/NIPT-MONO.webp\" alt=\"NIPT-MONO\u3067\u8abf\u3079\u3089\u308c\u307e\u3059\">\r\n         <\/a>\r\n    <\/div>\r\n<\/div>\r\n\r\n<style>\r\n.nipt-mono {\r\n    text-align: center; \/* \u89aa\u8981\u7d20\u3067\u6a2a\u4e2d\u592e *\/\r\n}\r\n.nipt-mono a img {\r\n    display: inline-block; \/* \u753b\u50cf\u3092\u30a4\u30f3\u30e9\u30a4\u30f3\u30d6\u30ed\u30c3\u30af\u5316\u3057\u3066 text-align \u306b\u53cd\u6620 *\/\r\n    width: 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