{"id":122527,"date":"2026-01-14T10:11:38","date_gmt":"2026-01-14T01:11:38","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=122527"},"modified":"2026-03-27T16:11:46","modified_gmt":"2026-03-27T07:11:46","slug":"bainbridge-ropers-syndrome-guide","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/bainbridge-ropers-syndrome-guide\/","title":{"rendered":"Bainbridge-Ropers Syndrome"},"content":{"rendered":"\n<p>Bainbridge-Ropers\u75c7\u5019\u7fa4\uff08\u30d9\u30a4\u30f3\u30d6\u30ea\u30c3\u30b8\u30fb\u30ed\u30fc\u30d1\u30fc\u30ba\u75c7\u5019\u7fa4\u3001\u4ee5\u4e0bBRPS\uff09\u306f\u3001\u8fd1\u5e74\u306e\u30b2\u30ce\u30e0\u89e3\u6790\u6280\u8853\u306e\u9032\u6b69\u306b\u3088\u3063\u3066\u660e\u3089\u304b\u306b\u306a\u3063\u305f\u5e0c\u5c11\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u30022013\u5e74\u306b\u521d\u3081\u3066\u5831\u544a\u3055\u308c\u305f\u3053\u306e\u75be\u60a3\u306f\u3001ASXL3\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3092\u539f\u56e0\u3068\u3057\u3001\u91cd\u5ea6\u306e\u767a\u9054\u9045\u6ede\u3084\u7279\u5fb4\u7684\u306a\u8eab\u4f53\u7684\u7279\u5fb4\u3092\u4f34\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u672c\u8a18\u4e8b\u3067\u306f\u3001\u533b\u7642\u5f93\u4e8b\u8005\u3084\u3054\u5bb6\u65cf\u3001\u652f\u63f4\u8005\u306e\u65b9\u3005\u306b\u5411\u3051\u3066\u3001BRPS\u306e\u75c5\u7406\u5b66\u7684\u306a\u80cc\u666f\u304b\u3089\u6700\u65b0\u306e\u8a3a\u65ad\u57fa\u6e96\u3001\u305d\u3057\u3066\u65e5\u5e38\u751f\u6d3b\u306b\u304a\u3051\u308b\u30b1\u30a2\u306e\u30dd\u30a4\u30f3\u30c8\u307e\u3067\u3092\u8a73\u7d30\u306b\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<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_82_2 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">\u76ee\u6b21<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" height=\"10px\" viewBox=\"0 0 24 24\" version=\"1.2\" baseProfile=\"tiny\"><path d=\"M18.2 9.3l-6.2-6.3-6.2 6.3c-.2.2-.3.4-.3.7s.1.5.3.7c.2.2.4.3.7.3h11c.3 0 .5-.1.7-.3.2-.2.3-.5.3-.7s-.1-.5-.3-.7zM5.8 14.7l6.2 6.3 6.2-6.3c.2-.2.3-.5.3-.7s-.1-.5-.3-.7c-.2-.2-.4-.3-.7-.3h-11c-.3 0-.5.1-.7.3-.2.2-.3.5-.3.7s.1.5.3.7z\"\/><\/svg><\/span><\/span><\/span><\/a><\/span><\/div>\n<nav><ul class='ez-toc-list ez-toc-list-level-1 ' ><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-1\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/bainbridge-ropers-syndrome-guide\/#1_Bainbridge-Ropers%E7%97%87%E5%80%99%E7%BE%A4%E3%81%A8%E3%81%AF%EF%BC%9AASXL3%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%A8%E3%81%AE%E9%96%A2%E9%80%A3%E6%80%A7\" >1. Bainbridge-Ropers\u75c7\u5019\u7fa4\u3068\u306f\uff1aASXL3\u907a\u4f1d\u5b50\u3068\u306e\u95a2\u9023\u6027<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/bainbridge-ropers-syndrome-guide\/#ASXL3%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AE%E5%BD%B9%E5%89%B2\" >ASXL3\u907a\u4f1d\u5b50\u306e\u5f79\u5272<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/bainbridge-ropers-syndrome-guide\/#%E9%81%BA%E4%BC%9D%E3%81%AE%E3%83%A1%E3%82%AB%E3%83%8B%E3%82%BA%E3%83%A0\" >\u907a\u4f1d\u306e\u30e1\u30ab\u30cb\u30ba\u30e0<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/bainbridge-ropers-syndrome-guide\/#2_BRPS%E3%81%AE%E4%B8%BB%E3%81%AA%E7%97%87%E7%8A%B6%E3%81%A8%E8%87%A8%E5%BA%8A%E7%9A%84%E7%89%B9%E5%BE%B4\" >2. BRPS\u306e\u4e3b\u306a\u75c7\u72b6\u3068\u81e8\u5e8a\u7684\u7279\u5fb4<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/bainbridge-ropers-syndrome-guide\/#%E7%A5%9E%E7%B5%8C%E7%99%BA%E9%81%94%E3%81%8A%E3%82%88%E3%81%B3%E8%A8%80%E8%AA%9E%E9%9A%9C%E5%AE%B3\" >\u795e\u7d4c\u767a\u9054\u304a\u3088\u3073\u8a00\u8a9e\u969c\u5bb3<\/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\/bainbridge-ropers-syndrome-guide\/#%E7%89%B9%E5%BE%B4%E7%9A%84%E3%81%AA%E9%A1%94%E8%B2%8C%EF%BC%88%E3%83%87%E3%82%A3%E3%82%B9%E3%83%A2%E3%83%AB%E3%83%95%E3%82%A9%E3%83%AD%E3%82%B8%E3%83%BC%EF%BC%89\" >\u7279\u5fb4\u7684\u306a\u9854\u8c8c\uff08\u30c7\u30a3\u30b9\u30e2\u30eb\u30d5\u30a9\u30ed\u30b8\u30fc\uff09<\/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\/bainbridge-ropers-syndrome-guide\/#%E7%AD%8B%E9%AA%A8%E6%A0%BC%E7%B3%BB%E3%81%8A%E3%82%88%E3%81%B3%E8%BA%AB%E4%BD%93%E7%9A%84%E7%89%B9%E5%BE%B4\" >\u7b4b\u9aa8\u683c\u7cfb\u304a\u3088\u3073\u8eab\u4f53\u7684\u7279\u5fb4<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/bainbridge-ropers-syndrome-guide\/#3_%E8%A8%BA%E6%96%AD%E3%83%97%E3%83%AD%E3%82%BB%E3%82%B9%EF%BC%9A%E6%AC%A1%E4%B8%96%E4%BB%A3%E3%82%B7%E3%83%BC%E3%82%B1%E3%83%B3%E3%82%B7%E3%83%B3%E3%82%B0%EF%BC%88NGS%EF%BC%89%E3%81%AE%E9%87%8D%E8%A6%81%E6%80%A7\" >3. \u8a3a\u65ad\u30d7\u30ed\u30bb\u30b9\uff1a\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\uff08NGS\uff09\u306e\u91cd\u8981\u6027<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/bainbridge-ropers-syndrome-guide\/#%E5%85%A8%E3%82%A8%E3%82%AF%E3%82%BD%E3%83%BC%E3%83%A0%E8%A7%A3%E6%9E%90%EF%BC%88WES%EF%BC%89\" >\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\uff08WES\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/bainbridge-ropers-syndrome-guide\/#%E9%91%91%E5%88%A5%E8%A8%BA%E6%96%AD\" >\u9451\u5225\u8a3a\u65ad<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/bainbridge-ropers-syndrome-guide\/#4_%E6%B2%BB%E7%99%82%E3%81%A8%E7%AE%A1%E7%90%86%EF%BC%9A%E5%A4%9A%E8%81%B7%E7%A8%AE%E9%80%A3%E6%90%BA%E3%81%AB%E3%82%88%E3%82%8B%E3%82%A2%E3%83%97%E3%83%AD%E3%83%BC%E3%83%81\" >4. \u6cbb\u7642\u3068\u7ba1\u7406\uff1a\u591a\u8077\u7a2e\u9023\u643a\u306b\u3088\u308b\u30a2\u30d7\u30ed\u30fc\u30c1<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-12\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/bainbridge-ropers-syndrome-guide\/#%E5%8C%BB%E7%99%82%E7%9A%84%E3%82%B1%E3%82%A2%E3%81%AE%E3%83%9D%E3%82%A4%E3%83%B3%E3%83%88\" >\u533b\u7642\u7684\u30b1\u30a2\u306e\u30dd\u30a4\u30f3\u30c8<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-13\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/bainbridge-ropers-syndrome-guide\/#%E7%99%BA%E9%81%94%E6%94%AF%E6%8F%B4%E3%81%A8%E6%95%99%E8%82%B2\" >\u767a\u9054\u652f\u63f4\u3068\u6559\u80b2<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/bainbridge-ropers-syndrome-guide\/#5_%E3%81%94%E5%AE%B6%E6%97%8F%E3%81%B8%E3%81%AE%E3%82%B5%E3%83%9D%E3%83%BC%E3%83%88%E3%81%A8%E7%94%9F%E6%B4%BB%E3%81%AE%E8%B3%AA%EF%BC%88QOL%EF%BC%89\" >5. \u3054\u5bb6\u65cf\u3078\u306e\u30b5\u30dd\u30fc\u30c8\u3068\u751f\u6d3b\u306e\u8cea\uff08QOL\uff09<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-15\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/bainbridge-ropers-syndrome-guide\/#%E3%82%B3%E3%83%9F%E3%83%A5%E3%83%8B%E3%83%86%E3%82%A3%E3%81%AE%E6%B4%BB%E7%94%A8\" >\u30b3\u30df\u30e5\u30cb\u30c6\u30a3\u306e\u6d3b\u7528<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/bainbridge-ropers-syndrome-guide\/#%E9%95%B7%E6%9C%9F%E7%9A%84%E3%81%AA%E5%B1%95%E6%9C%9B\" >\u9577\u671f\u7684\u306a\u5c55\u671b<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/bainbridge-ropers-syndrome-guide\/#%E7%B5%90%E8%AB%96\" >\u7d50\u8ad6<\/a><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_Bainbridge-Ropers%E7%97%87%E5%80%99%E7%BE%A4%E3%81%A8%E3%81%AF%EF%BC%9AASXL3%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%A8%E3%81%AE%E9%96%A2%E9%80%A3%E6%80%A7\"><\/span><strong>1. Bainbridge-Ropers\u75c7\u5019\u7fa4\u3068\u306f\uff1aASXL3\u907a\u4f1d\u5b50\u3068\u306e\u95a2\u9023\u6027<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>Bainbridge-Ropers\u75c7\u5019\u7fa4\uff08BRPS\uff09\u306f\u3001\u5e38\u67d3\u8272\u4f53\u9855\u6027\uff08\u512a\u6027\uff09\u907a\u4f1d\u5f62\u5f0f\u3092\u3068\u308b\u795e\u7d4c\u767a\u9054\u969c\u5bb3\u3067\u3059\u3002\u305d\u306e\u6839\u672c\u7684\u306a\u539f\u56e0\u306f\u3001\u7b2c18\u756a\u67d3\u8272\u4f53\uff0818q12.1\uff09\u306b\u4f4d\u7f6e\u3059\u308b<strong>ASXL3\u907a\u4f1d\u5b50<\/strong>\u306ede novo\uff08\u7a81\u7136\u5909\u7570\uff09\u306b\u3088\u308b\u5909\u7570\u306b\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"ASXL3%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AE%E5%BD%B9%E5%89%B2\"><\/span><strong>ASXL3\u907a\u4f1d\u5b50\u306e\u5f79\u5272<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>ASXL3\uff08Additional sex combs-like 3\uff09\u907a\u4f1d\u5b50\u306f\u3001\u30a8\u30d4\u30b8\u30a7\u30cd\u30c6\u30a3\u30c3\u30af\u306a\u907a\u4f1d\u5b50\u767a\u73fe\u306e\u8abf\u7bc0\u306b\u304a\u3044\u3066\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3059\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u7b26\u53f7\u5316\u3057\u3066\u3044\u307e\u3059\u3002\u5177\u4f53\u7684\u306b\u306f\u3001\u30af\u30ed\u30de\u30c1\u30f3\u306e\u69cb\u9020\u3092\u5909\u5316\u3055\u305b\u308b\u3053\u3068\u3067\u3001\u4ed6\u306e\u591a\u304f\u306e\u907a\u4f1d\u5b50\u306e\u300c\u30b9\u30a4\u30c3\u30c1\u300d\u3092\u30aa\u30f3\u30fb\u30aa\u30d5\u3059\u308b\u6a5f\u80fd\u306b\u95a2\u308f\u3063\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306b\u5909\u7570\u304c\u751f\u3058\u308b\u3068\u3001\u8133\u306e\u767a\u9054\u3084\u9aa8\u683c\u306e\u5f62\u6210\u306b\u5fc5\u8981\u306a\u907a\u4f1d\u5b50\u7fa4\u304c\u6b63\u3057\u304f\u6a5f\u80fd\u3057\u306a\u304f\u306a\u308a\u3001BRPS\u7279\u6709\u306e\u75c7\u72b6\u304c\u73fe\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%BA%E4%BC%9D%E3%81%AE%E3%83%A1%E3%82%AB%E3%83%8B%E3%82%BA%E3%83%A0\"><\/span><strong>\u907a\u4f1d\u306e\u30e1\u30ab\u30cb\u30ba\u30e0<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u307b\u3068\u3093\u3069\u306e\u75c7\u4f8b\u306f\u3001\u4e21\u89aa\u304b\u3089\u53d7\u3051\u7d99\u3044\u3060\u3082\u306e\u3067\u306f\u306a\u304f\u3001\u53d7\u7cbe\u5375\u306e\u6bb5\u968e\u3067\u767a\u751f\u3057\u305f<strong>de novo\u5909\u7570<\/strong>\u3067\u3059\u3002\u305d\u306e\u305f\u3081\u3001\u5144\u5f1f\u59c9\u59b9\u304c\u540c\u3058\u75be\u60a3\u3092\u6301\u3064\u78ba\u7387\u306f\u975e\u5e38\u306b\u4f4e\u3044\uff081%\u672a\u6e80\uff09\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u6b21\u5b50\u3078\u306e\u5f71\u97ff\u3092\u8003\u616e\u3059\u308b\u5834\u5408\u306f\u3001\u81e8\u5e8a\u907a\u4f1d\u5c02\u9580\u533b\u306b\u3088\u308b\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_BRPS%E3%81%AE%E4%B8%BB%E3%81%AA%E7%97%87%E7%8A%B6%E3%81%A8%E8%87%A8%E5%BA%8A%E7%9A%84%E7%89%B9%E5%BE%B4\"><\/span><strong>2. BRPS\u306e\u4e3b\u306a\u75c7\u72b6\u3068\u81e8\u5e8a\u7684\u7279\u5fb4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>BRPS\u306e\u75c7\u72b6\u306f\u591a\u5c90\u306b\u308f\u305f\u308a\u3001\u500b\u4eba\u5dee\u3082\u5927\u304d\u3044\u306e\u304c\u7279\u5fb4\u3067\u3059\u304c\u3001\u5171\u901a\u3057\u3066\u898b\u3089\u308c\u308b\u4e3b\u8981\u306a\u81e8\u5e8a\u50cf\u304c\u3044\u304f\u3064\u304b\u5b58\u5728\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%A5%9E%E7%B5%8C%E7%99%BA%E9%81%94%E3%81%8A%E3%82%88%E3%81%B3%E8%A8%80%E8%AA%9E%E9%9A%9C%E5%AE%B3\"><\/span><strong>\u795e\u7d4c\u767a\u9054\u304a\u3088\u3073\u8a00\u8a9e\u969c\u5bb3<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u91cd\u5ea6\u306e\u767a\u9054\u9045\u6ede:<\/strong> \u904b\u52d5\u9762\u3001\u8a8d\u77e5\u9762\u306e\u4e21\u65b9\u3067\u9855\u8457\u306a\u9045\u308c\u304c\u898b\u3089\u308c\u307e\u3059\u3002\u6b69\u884c\u306e\u958b\u59cb\u304c\u5927\u5e45\u306b\u9045\u308c\u308b\u3001\u3042\u308b\u3044\u306f\u72ec\u6b69\u304c\u56f0\u96e3\u306a\u30b1\u30fc\u30b9\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u7372\u5f97\u306e\u56f0\u96e3:<\/strong> \u591a\u304f\u306e\u60a3\u8005\u306b\u304a\u3044\u3066\u3001\u6709\u610f\u8a9e\uff08\u610f\u5473\u306e\u3042\u308b\u8a00\u8449\uff09\u306e\u767a\u8a9e\u304c\u6975\u3081\u3066\u9650\u5b9a\u7684\u3001\u3082\u3057\u304f\u306f\u5168\u304f\u898b\u3089\u308c\u306a\u3044\u300c\u975e\u8a00\u8a9e\u7684\u300d\u306a\u72b6\u614b\u3068\u306a\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002\u4ee3\u66ff\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\uff08\u30b5\u30a4\u30f3\u3084\u30bf\u30d6\u30ec\u30c3\u30c8\u7aef\u672b\uff09\u306e\u6d3b\u7528\u304c\u91cd\u8981\u8996\u3055\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>:<\/strong> \u307b\u3068\u3093\u3069\u306e\u75c7\u4f8b\u3067\u4e2d\u7b49\u5ea6\u304b\u3089\u91cd\u5ea6\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u304c\u8a8d\u3081\u3089\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%89%B9%E5%BE%B4%E7%9A%84%E3%81%AA%E9%A1%94%E8%B2%8C%EF%BC%88%E3%83%87%E3%82%A3%E3%82%B9%E3%83%A2%E3%83%AB%E3%83%95%E3%82%A9%E3%83%AD%E3%82%B8%E3%83%BC%EF%BC%89\"><\/span><strong>\u7279\u5fb4\u7684\u306a\u9854\u8c8c\uff08\u30c7\u30a3\u30b9\u30e2\u30eb\u30d5\u30a9\u30ed\u30b8\u30fc\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>BRPS\u306b\u306f\u3001\u5c02\u9580\u533b\u304c\u898b\u3066\u5224\u65ad\u306e\u52a9\u3051\u3068\u306a\u308b\u7279\u5fb4\u7684\u306a\u9854\u306e\u9020\u4f5c\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30a2\u30fc\u30c1\u72b6\u306e\u7709:<\/strong> \u9ad8\u304f\u3001\u5f13\u306e\u3088\u3046\u306a\u5f62\u3092\u3057\u305f\u7709\u3002<\/li>\n\n\n\n<li><strong>\u773c\u77bc\u88c2\u659c\u4e0b:<\/strong> \u76ee\u5c3b\u304c\u4e0b\u304c\u3063\u305f\u3088\u3046\u306a\u76ee\u306e\u5f62\u3002<\/li>\n\n\n\n<li><strong>\u9f3b\u6881\u306e\u7a81\u51fa:<\/strong> \u9f3b\u306e\u4ed8\u3051\u6839\u304c\u9ad8\u304f\u3001\u3057\u3063\u304b\u308a\u3057\u3066\u3044\u308b\u3002<\/li>\n\n\n\n<li><strong>\u53e3\u5507\u306e\u5f62\u72b6:<\/strong> \u4e0a\u5507\u304c\u8584\u304f\u3001\u53e3\u89d2\u304c\u4e0b\u304c\u3063\u3066\u3044\u308b\u3002<\/li>\n\n\n\n<li><strong>\u524d\u982d\u90e8\u306e\u7a81\u51fa:<\/strong> \u304a\u3067\u3053\u304c\u7a81\u304d\u51fa\u3066\u3044\u308b\u3088\u3046\u306b\u898b\u3048\u308b\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%AD%8B%E9%AA%A8%E6%A0%BC%E7%B3%BB%E3%81%8A%E3%82%88%E3%81%B3%E8%BA%AB%E4%BD%93%E7%9A%84%E7%89%B9%E5%BE%B4\"><\/span><strong>\u7b4b\u9aa8\u683c\u7cfb\u304a\u3088\u3073\u8eab\u4f53\u7684\u7279\u5fb4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08\u4f4e\u7dca\u5f35\uff09:<\/strong> \u4e73\u5150\u671f\u304b\u3089\u4f53\u304c\u67d4\u3089\u304b\u304f\u3001\u62b1\u3063\u3053\u3057\u305f\u969b\u306e\u30ea\u30b9\u30dd\u30f3\u30b9\u304c\u5f31\u3044\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5074\u5f2f\u75c7:<\/strong> \u6210\u9577\u306b\u4f34\u3044\u80cc\u9aa8\u304c\u66f2\u304c\u308b\u30ea\u30b9\u30af\u304c\u9ad8\u3044\u305f\u3081\u3001\u5b9a\u671f\u7684\u306a\u6574\u5f62\u5916\u79d1\u7684\u30d5\u30a9\u30ed\u30fc\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u624b\u6307\u306e\u7279\u5fb4:<\/strong> \u6307\u304c\u7d30\u9577\u304f\u3001\u95a2\u7bc0\u306e\u904e\u4f38\u5c55\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n<!--nipt_mono-->\r\n<div class=\"nipt-mono\">\r\n    <div class=\"nipt-mono-btn\">\r\n        <a href=\"\/nipt\/nipt-mono\/\">\r\n            <img decoding=\"async\" loading=\"lazy\" src=\"\/nipt\/wp-content\/uploads\/2026\/03\/NIPT-MONO.webp\" alt=\"NIPT-MONO\u3067\u8abf\u3079\u3089\u308c\u307e\u3059\">\r\n         <\/a>\r\n    <\/div>\r\n<\/div>\r\n\r\n<style>\r\n.nipt-mono {\r\n    text-align: center; \/* \u89aa\u8981\u7d20\u3067\u6a2a\u4e2d\u592e *\/\r\n}\r\n.nipt-mono a img {\r\n    display: inline-block; \/* \u753b\u50cf\u3092\u30a4\u30f3\u30e9\u30a4\u30f3\u30d6\u30ed\u30c3\u30af\u5316\u3057\u3066 text-align \u306b\u53cd\u6620 *\/\r\n    width: 333px;\r\n}\r\n<\/style>\r\n<!--\/nipt_mono-->\r\n\r\n\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E8%A8%BA%E6%96%AD%E3%83%97%E3%83%AD%E3%82%BB%E3%82%B9%EF%BC%9A%E6%AC%A1%E4%B8%96%E4%BB%A3%E3%82%B7%E3%83%BC%E3%82%B1%E3%83%B3%E3%82%B7%E3%83%B3%E3%82%B0%EF%BC%88NGS%EF%BC%89%E3%81%AE%E9%87%8D%E8%A6%81%E6%80%A7\"><\/span><strong>3. \u8a3a\u65ad\u30d7\u30ed\u30bb\u30b9\uff1a\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\uff08NGS\uff09\u306e\u91cd\u8981\u6027<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>BRPS\u306f\u5916\u898b\u3084\u75c7\u72b6\u306e\u307f\u3067\u78ba\u5b9a\u8a3a\u65ad\u3092\u4e0b\u3059\u3053\u3068\u304c\u975e\u5e38\u306b\u56f0\u96e3\u306a\u75be\u60a3\u3067\u3059\u3002\u304b\u3064\u3066\u306f\u300c\u539f\u56e0\u4e0d\u660e\u306e\u767a\u9054\u9045\u6ede\u300d\u3068\u7247\u4ed8\u3051\u3089\u308c\u3066\u3044\u305f\u30b1\u30fc\u30b9\u3082\u3001\u8fd1\u5e74\u306e\u907a\u4f1d\u5b50\u691c\u67fb\u6280\u8853\u306e\u666e\u53ca\u306b\u3088\u308a\u3001\u6b63\u78ba\u306a\u8a3a\u65ad\u304c\u53ef\u80fd\u3068\u306a\u308a\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%85%A8%E3%82%A8%E3%82%AF%E3%82%BD%E3%83%BC%E3%83%A0%E8%A7%A3%E6%9E%90%EF%BC%88WES%EF%BC%89\"><\/span><strong>\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\uff08WES\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u73fe\u5728\u3001BRPS\u306e\u8a3a\u65ad\u306b\u304a\u3044\u3066\u6700\u3082\u6709\u52b9\u306a\u306e\u306f\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\uff08Whole Exome Sequencing: WES\uff09\u3067\u3059\u3002\u3053\u308c\u306f\u3001\u30b2\u30ce\u30e0\u306e\u4e2d\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u30b3\u30fc\u30c9\u3059\u308b\u9818\u57df\uff08\u30a8\u30af\u30bd\u30f3\uff09\u3092\u7db2\u7f85\u7684\u306b\u8abf\u3079\u308b\u691c\u67fb\u3067\u3059\u3002ASXL3\u907a\u4f1d\u5b50\u306e\u5207\u65ad\u5909\u7570\u3084\u30d5\u30ec\u30fc\u30e0\u30b7\u30d5\u30c8\u5909\u7570\u3092\u7279\u5b9a\u3059\u308b\u3053\u3068\u3067\u3001\u78ba\u5b9a\u8a3a\u65ad\u306b\u81f3\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%91%91%E5%88%A5%E8%A8%BA%E6%96%AD\"><\/span><strong>\u9451\u5225\u8a3a\u65ad<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>BRPS\u306f\u3001\u4ee5\u4e0b\u306e\u75be\u60a3\u3068\u75c7\u72b6\u304c\u985e\u4f3c\u3057\u3066\u3044\u308b\u305f\u3081\u3001\u9451\u5225\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>Bohring-Opitz\u75c7\u5019\u7fa4 (BOS):<\/strong> ASXL1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3002BRPS\u3088\u308a\u3082\u75c7\u72b6\u304c\u91cd\u7be4\u3067\u3001\u7279\u6709\u306e\u300cBOS\u30dd\u30b9\u30c1\u30e3\u30fc\u300d\u3068\u547c\u3070\u308c\u308b\u59ff\u52e2\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>Cornelia de Lange\u75c7\u5019\u7fa4:<\/strong> \u591a\u6bdb\u3084\u56db\u80a2\u306e\u6b20\u640d\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u907a\u4f1d\u5b50\u89e3\u6790\u3067\u533a\u5225\u3055\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>Angelman\u75c7\u5019\u7fa4:<\/strong> \u8a00\u8a9e\u306e\u9045\u308c\u3084\u30cf\u30c3\u30d4\u30fc\u306a\u8868\u60c5\u304c\u4f3c\u3066\u3044\u307e\u3059\u304c\u3001\u907a\u4f1d\u5b66\u7684\u80cc\u666f\u304c\u5168\u304f\u7570\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ol>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E6%B2%BB%E7%99%82%E3%81%A8%E7%AE%A1%E7%90%86%EF%BC%9A%E5%A4%9A%E8%81%B7%E7%A8%AE%E9%80%A3%E6%90%BA%E3%81%AB%E3%82%88%E3%82%8B%E3%82%A2%E3%83%97%E3%83%AD%E3%83%BC%E3%83%81\"><\/span><strong>4. \u6cbb\u7642\u3068\u7ba1\u7406\uff1a\u591a\u8077\u7a2e\u9023\u643a\u306b\u3088\u308b\u30a2\u30d7\u30ed\u30fc\u30c1<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u73fe\u5728\u3001BRPS\u306b\u5bfe\u3059\u308b\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\uff08\u907a\u4f1d\u5b50\u6cbb\u7642\u306a\u3069\uff09\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002\u305d\u306e\u305f\u3081\u3001\u500b\u3005\u306e\u75c7\u72b6\u306b\u5408\u308f\u305b\u305f<strong>\u5bfe\u75c7\u7642\u6cd5<\/strong>\u3068\u3001\u65e9\u671f\u304b\u3089\u306e\u7642\u80b2\uff08\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\uff09\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=\"%E5%8C%BB%E7%99%82%E7%9A%84%E3%82%B1%E3%82%A2%E3%81%AE%E3%83%9D%E3%82%A4%E3%83%B3%E3%83%88\"><\/span><strong>\u533b\u7642\u7684\u30b1\u30a2\u306e\u30dd\u30a4\u30f3\u30c8<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6442\u98df\u652f\u63f4:<\/strong> \u56a5\u4e0b\uff08\u98f2\u307f\u8fbc\u307f\uff09\u969c\u5bb3\u3084\u3001\u91cd\u5ea6\u306e\u504f\u98df\u3001\u80c3\u98df\u9053\u9006\u6d41\u75c7\uff08GERD\uff09\u304c\u898b\u3089\u308c\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002\u6804\u990a\u58eb\u3084\u8a00\u8a9e\u8074\u899a\u58eb\u306b\u3088\u308b\u6307\u5c0e\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u3066\u3093\u304b\u3093\u7ba1\u7406:<\/strong> \u4e00\u90e8\u306e\u75c7\u4f8b\u3067\u306f\u3051\u3044\u308c\u3093\u767a\u4f5c\u304c\u898b\u3089\u308c\u307e\u3059\u3002\u8133\u6ce2\u691c\u67fb\u306b\u57fa\u3065\u3044\u305f\u9069\u5207\u306a\u6297\u3066\u3093\u304b\u3093\u85ac\u306e\u9078\u629e\u304c\u884c\u308f\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7761\u7720\u969c\u5bb3\u3078\u306e\u5bfe\u5fdc:<\/strong> \u5165\u7720\u56f0\u96e3\u3084\u4e2d\u9014\u899a\u9192\u304c\u591a\u3044\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002\u74b0\u5883\u8abf\u6574\u3084\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u305f\u30e1\u30e9\u30c8\u30cb\u30f3\u88fd\u5264\u306e\u691c\u8a0e\u304c\u884c\u308f\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%99%BA%E9%81%94%E6%94%AF%E6%8F%B4%E3%81%A8%E6%95%99%E8%82%B2\"><\/span><strong>\u767a\u9054\u652f\u63f4\u3068\u6559\u80b2<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7406\u5b66\u7642\u6cd5\uff08PT\uff09:<\/strong> \u7b4b\u7dca\u5f35\u4f4e\u4e0b\u306b\u5bfe\u3059\u308b\u30a2\u30d7\u30ed\u30fc\u30c1\u3084\u3001\u7c97\u5927\u904b\u52d5\uff08\u6b69\u884c\u306a\u3069\uff09\u306e\u7372\u5f97\u3092\u76ee\u6307\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09:<\/strong> \u624b\u5148\u306e\u7d30\u304b\u306a\u52d5\u304d\u3084\u3001\u611f\u899a\u904e\u654f\u306e\u7de9\u548c\u3092\u30b5\u30dd\u30fc\u30c8\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09:<\/strong> \u767a\u751f\u8a13\u7df4\u3060\u3051\u3067\u306a\u304f\u3001PECS\uff08\u7d75\u30ab\u30fc\u30c9\u4ea4\u63db\u5f0f\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u30b7\u30b9\u30c6\u30e0\uff09\u3084VOCA\uff08\u97f3\u58f0\u51fa\u529b\u88c5\u7f6e\uff09\u3092\u7528\u3044\u305f\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u624b\u6bb5\u306e\u69cb\u7bc9\u3092\u76ee\u6307\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/32558032_s.webp\" alt=\"\u8d64\u3061\u3083\u3093\" class=\"wp-image-117043\"\/><\/figure><\/div>\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"5_%E3%81%94%E5%AE%B6%E6%97%8F%E3%81%B8%E3%81%AE%E3%82%B5%E3%83%9D%E3%83%BC%E3%83%88%E3%81%A8%E7%94%9F%E6%B4%BB%E3%81%AE%E8%B3%AA%EF%BC%88QOL%EF%BC%89\"><\/span><strong>5. \u3054\u5bb6\u65cf\u3078\u306e\u30b5\u30dd\u30fc\u30c8\u3068\u751f\u6d3b\u306e\u8cea\uff08QOL\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u5e0c\u5c11\u75be\u60a3\u306e\u8a3a\u65ad\u3092\u53d7\u3051\u308b\u3053\u3068\u306f\u3001\u3054\u5bb6\u65cf\u306b\u3068\u3063\u3066\u5927\u304d\u306a\u7cbe\u795e\u7684\u8ca0\u62c5\u3068\u306a\u308a\u307e\u3059\u3002BRPS\u306e\u5b50\u3069\u3082\u305f\u3061\u306f\u3001\u8a00\u8449\u3067\u306e\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u304c\u96e3\u3057\u304f\u3066\u3082\u3001\u8c4a\u304b\u306a\u611f\u60c5\u3092\u6301\u3061\u3001\u72ec\u81ea\u306e\u30b5\u30a4\u30f3\u3067\u5bb6\u65cf\u3068\u4ea4\u6d41\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%82%B3%E3%83%9F%E3%83%A5%E3%83%8B%E3%83%86%E3%82%A3%E3%81%AE%E6%B4%BB%E7%94%A8\"><\/span><strong>\u30b3\u30df\u30e5\u30cb\u30c6\u30a3\u306e\u6d3b\u7528<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u4e16\u754c\u4e2d\u306bBRPS\u306e\u60a3\u8005\u5bb6\u65cf\u30cd\u30c3\u30c8\u30ef\u30fc\u30af\u304c\u5b58\u5728\u3057\u307e\u3059\u3002\u540c\u3058\u60a9\u307f\u3092\u6301\u3064\u5bb6\u65cf\u3068\u3064\u306a\u304c\u308b\u3053\u3068\u306f\u3001\u60c5\u5831\u306e\u5171\u6709\u3060\u3051\u3067\u306a\u304f\u3001\u7cbe\u795e\u7684\u306a\u5b64\u7acb\u3092\u9632\u3050\u305f\u3081\u306b\u975e\u5e38\u306b\u6709\u52b9\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%95%B7%E6%9C%9F%E7%9A%84%E3%81%AA%E5%B1%95%E6%9C%9B\"><\/span><strong>\u9577\u671f\u7684\u306a\u5c55\u671b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>BRPS\u306f\u6bd4\u8f03\u7684\u65b0\u3057\u304f\u767a\u898b\u3055\u308c\u305f\u75be\u60a3\u3067\u3042\u308b\u305f\u3081\u3001\u6210\u4eba\u671f\u306e\u7d4c\u904e\u306b\u3064\u3044\u3066\u306f\u307e\u3060\u30c7\u30fc\u30bf\u304c\u84c4\u7a4d\u3055\u308c\u3066\u3044\u308b\u6bb5\u968e\u3067\u3059\u3002\u3057\u304b\u3057\u3001\u9069\u5207\u306a\u533b\u5b66\u7684\u7ba1\u7406\u3068\u7642\u80b2\u3092\u7d99\u7d9a\u3059\u308b\u3053\u3068\u3067\u3001\u5065\u5eb7\u72b6\u614b\u3092\u7dad\u6301\u3057\u3001\u5b89\u5b9a\u3057\u305f\u751f\u6d3b\u3092\u9001\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%B5%90%E8%AB%96\"><\/span><strong>\u7d50\u8ad6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>Bainbridge-Ropers\u75c7\u5019\u7fa4\u306f\u3001ASXL3\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308b\u8907\u96d1\u306a\u75be\u60a3\u3067\u3059\u304c\u3001\u65e9\u671f\u8a3a\u65ad\u3068\u591a\u89d2\u7684\u306a\u30b5\u30dd\u30fc\u30c8\u306b\u3088\u3063\u3066\u3001\u5b50\u3069\u3082\u306e\u6301\u3064\u53ef\u80fd\u6027\u3092\u6700\u5927\u9650\u306b\u5f15\u304d\u51fa\u3059\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u533b\u7642\u30fb\u6559\u80b2\u30fb\u798f\u7949\u304c\u9023\u643a\u3057\u3001\u500b\u3005\u306e\u7279\u6027\u306b\u5408\u308f\u305b\u305f\u652f\u63f4\u8a08\u753b\u3092\u7acb\u3066\u308b\u3053\u3068\u304c\u3001\u672c\u4eba\u3068\u3054\u5bb6\u65cf\u306eQOL\u5411\u4e0a\u306b\u76f4\u7d50\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6700\u65b0\u306e\u7814\u7a76\u3067\u306f\u3001ASXL3\u907a\u4f1d\u5b50\u306e\u6a5f\u80fd\u89e3\u660e\u304c\u9032\u3093\u3067\u304a\u308a\u3001\u5c06\u6765\u7684\u306a\u6cbb\u7642\u6226\u7565\u306e\u69cb\u7bc9\u304c\u671f\u5f85\u3055\u308c\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","protected":false},"excerpt":{"rendered":"Bainbridge-Ropers\u75c7\u5019\u7fa4&#8230;\n <a 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