{"id":83503,"date":"2024-11-14T14:18:51","date_gmt":"2024-11-14T05:18:51","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=83503"},"modified":"2026-03-04T14:05:23","modified_gmt":"2026-03-04T05:05:23","slug":"coffin-siris-syndrome-1-css1","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/coffin-siris-syndrome-1-css1\/","title":{"rendered":"Coffin-Siris Syndrome 1 (CSS1)"},"content":{"rendered":"\n<div style=\"border:solid #ffe6e6 0.8rem;background-color: #fff9f9;padding:3% 5%;margin:1rem 0 3rem;\"><h2 style=\"margin-top:1rem;\">\u3053\u306e\u8a18\u4e8b\u306e\u307e\u3068\u3081<\/h2><p>\u30b3\u30d5\u30a3\u30f3\u30fb\u30b7\u30ea\u30b9\u75c7\u5019\u7fa41\u578b\uff08CSS1\uff09\u306f\u3001ARID1B\u907a\u4f1d\u5b50\u306e\u5909\u7570\u304c\u539f\u56e0\u3067\u767a\u75c7\u3059\u308b\u307e\u308c\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002\u77e5\u7684\u767a\u9054\u3084\u8eab\u4f53\u7684\u7279\u5fb4\u306b\u5f71\u97ff\u3092\u53ca\u307c\u3059CSS1\u306f\u3001\u65e9\u671f\u8a3a\u65ad\u3068\u9069\u5207\u306a\u4ecb\u5165\u304c\u91cd\u8981\u3067\u3059\u3002\u672c\u8a18\u4e8b\u3067\u306f\u3001CSS1\u306e\u75c7\u72b6\u3084\u7ba1\u7406\u65b9\u6cd5\u306b\u3064\u3044\u3066\u308f\u304b\u308a\u3084\u3059\u304f\u89e3\u8aac\u3057\u307e\u3059\u3002<\/p><\/div>\n\n\n\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_84 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 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/coffin-siris-syndrome-1-css1\/#%E7%96%BE%E6%82%A3%E3%81%AE%E7%97%87%E7%8A%B6%E3%81%A8%E7%AE%A1%E7%90%86%E6%96%B9%E6%B3%95\" >\u75be\u60a3\u306e\u75c7\u72b6\u3068\u7ba1\u7406\u65b9\u6cd5<\/a><\/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\/coffin-siris-syndrome-1-css1\/#%E3%82%82%E3%81%A3%E3%81%A8%E7%9F%A5%E3%82%8A%E3%81%9F%E3%81%84%E6%96%B9%E3%81%B8\" >\u3082\u3063\u3068\u77e5\u308a\u305f\u3044\u65b9\u3078<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/coffin-siris-syndrome-1-css1\/#%E5%BC%95%E7%94%A8%E6%96%87%E7%8C%AE\" >\u5f15\u7528\u6587\u732e<\/a><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%96%BE%E6%82%A3%E6%A6%82%E8%A6%81\"><\/span>\u75be\u60a3\u6982\u8981<span 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class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u30b3\u30d5\u30a3\u30f3\u30fb\u30b7\u30ea\u30b9\u75c7\u5019\u7fa4\uff08CSS\uff09\u306f\u3001\u77e5\u7684\u767a\u9054\u3068\u8eab\u4f53\u7684\u7279\u5fb4\u306b\u4e3b\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u307e\u308c\u306a\u907a\u4f1d\u7684\u75be\u60a3\u3067\u3059\u3002\u30b3\u30d5\u30a3\u30f3\u30fb\u30b7\u30ea\u30b9\u75c7\u5019\u7fa4\u306b\u306f\u3044\u304f\u3064\u304b\u306e\u30bf\u30a4\u30d7\u304c\u3042\u308a\u3001\u305d\u308c\u305e\u308c\u7570\u306a\u308b\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002\u3053\u306e\u8a18\u4e8b\u3067\u306f\u3001\u7279\u306b\u30b3\u30d5\u30a3\u30f3\u30fb\u30b7\u30ea\u30b9\u75c7\u5019\u7fa41\u578b\uff08CSS1\uff09\u306b\u3064\u3044\u3066\u8aac\u660e\u3057\u307e\u3059\u3002CSS1\u306f\u3001\u4e3b\u306b6\u756a\u67d3\u8272\u4f53\u306e6q25.3\u306b\u3042\u308bARID1B\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306f\u5e38\u67d3\u8272\u4f53\u512a\u6027\u907a\u4f1d\u306e\u30d1\u30bf\u30fc\u30f3\u306b\u5f93\u3044\u3001\u5909\u7570\u3057\u305f\u907a\u4f1d\u5b50\u304c1\u3064\u3067\u3082\u3042\u308c\u3070\u75be\u60a3\u304c\u767a\u75c7\u3057\u307e\u3059\u3002\u305f\u3060\u3057\u3001\u591a\u304f\u306e\u75c7\u4f8b\u3067\u306f\u3001\u5909\u7570\u304c\u65b0\u305f\u306b\uff08de novo\uff09\u767a\u751f\u3057\u3001\u5bb6\u65cf\u5185\u3067\u306e\u65e2\u5f80\u6b74\u306f\u306a\u3044\u3053\u3068\u304c\u307b\u3068\u3093\u3069\u3067\u3059\u3002<\/p>\n\n\n\n<p>CSS1\u306e\u4eba\u3005\u306f\u3001\u7279\u5fb4\u7684\u306a\u9854\u306e\u7279\u5fb4\u3001\u904e\u5270\u306a\u4f53\u6bdb\uff08\u591a\u6bdb\u75c7\uff09\u3001\u307e\u3070\u3089\u306a\u982d\u9aea\u3001\u305d\u3057\u3066\u6b20\u640d\u307e\u305f\u306f\u672a\u767a\u9054\u306e\u5c0f\u6307\u306e\u722a\uff08\u624b\u8db3\u306e\u7b2c\u4e94\u6307\u306e\u722a\uff09\u304c\u898b\u3089\u308c\u307e\u3059\u3002\u767a\u9054\u306e\u9045\u308c\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/learning-disabilities-genetics-support\/\">\u5b66\u7fd2\u969c\u5bb3<\/a>\u304c\u4e00\u822c\u7684\u3067\u3001\u305d\u306e\u91cd\u75c7\u5ea6\u306f\u500b\u4eba\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u307e\u3059\u3002\u3055\u3089\u306b\u3001CSS1\u306f\u5fc3\u81d3\u3001\u6d88\u5316\u5668\u7cfb\u3001\u6ccc\u5c3f\u5668\u7cfb\u3001\u795e\u7d4c\u7cfb\u306b\u95a2\u9023\u3059\u308b\u4ed6\u306e\u8eab\u4f53\u7684\u7570\u5e38\u3082\u5f15\u304d\u8d77\u3053\u3059\u53ef\u80fd\u6027\u304c\u3042\u308a\u3001\u3053\u308c\u304c\u8a3a\u65ad\u3084\u6cbb\u7642\u3092\u8907\u96d1\u306b\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\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\/31510744_s.jpg\" alt=\"\u7d46\u5275\u818f\" class=\"wp-image-88803\"\/><\/figure><\/div>\n\n\n<div style=\"height:22px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u305d\u306e\u4ed6\u306e\u75c7\u72b6\u3068\u3057\u3066\u306f\u3001\u6210\u9577\u4e0d\u826f\u3001\u4e73\u5150\u671f\u306e\u5438\u5f15\u3084\u6388\u4e73\u306e\u56f0\u96e3\u3001\u8996\u529b\u306e\u554f\u984c\u3001\u8074\u529b\u969c\u5bb3\u3001\u810a\u690e\u306e\u7570\u5e38\u306a\u3069\u304c\u3042\u308a\u307e\u3059\u3002\u75c7\u72b6\u306e\u91cd\u7be4\u5ea6\u3084\u7bc4\u56f2\u306f\u500b\u4eba\u306b\u3088\u3063\u3066\u5927\u304d\u304f\u7570\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002ARID1B\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306f\u30b3\u30d5\u30a3\u30f3\u30fb\u30b7\u30ea\u30b9\u75c7\u5019\u7fa4\u306e\u6700\u3082\u4e00\u822c\u7684\u306a\u539f\u56e0\u3067\u3059\u304c\u3001\u4ed6\u306e\u907a\u4f1d\u5b50\u3001\u4f8b\u3048\u3070ARID1A\u3001SMARCA4\u3001SMARCB1\u306a\u3069\u306e\u5909\u7570\u3082\u95a2\u9023\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u30b3\u30d5\u30a3\u30f3\u30fb\u30b7\u30ea\u30b9\u75c7\u5019\u7fa4\uff08CSS1\u3092\u542b\u3080\uff09\u306f\u975e\u5e38\u306b\u307e\u308c\u3067\u3001100,000\u4eba\u306e\u51fa\u751f\u306b\u5bfe\u3057\u30661\u301c10\u4eba\u306e\u5b50\u4f9b\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u65e9\u671f\u306e\u8a3a\u65ad\u3068\u4ecb\u5165\u306f\u3053\u306e\u75be\u60a3\u306e\u7ba1\u7406\u306b\u304a\u3044\u3066\u975e\u5e38\u306b\u91cd\u8981\u3067\u3001\u3053\u308c\u3089\u306e\u63aa\u7f6e\u306b\u3088\u3063\u3066\u767a\u9054\u306e\u7d50\u679c\u3092\u5927\u304d\u304f\u6539\u5584\u3057\u3001\u3053\u306e\u75c7\u5019\u7fa4\u306b\u95a2\u9023\u3059\u308b\u3055\u307e\u3056\u307e\u306a\u5065\u5eb7\u554f\u984c\u306b\u5bfe\u5fdc\u3059\u308b\u3053\u3068\u304c\u53ef\u80fd\u306b\u306a\u308a\u307e\u3059\u3002\u3053\u306e\u8a18\u4e8b\u3067\u306f\u3001ARID1B\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u30b3\u30d5\u30a3\u30f3\u30fb\u30b7\u30ea\u30b9\u75c7\u5019\u7fa41\u578b\u306b\u7126\u70b9\u3092\u5f53\u3066\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n    <a href=\"\/nipt\/rubinstein-taybi-syndrome-crebbp\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">Rubinstein-Taybi \u75c7\u5019\u7fa4 (CREBBP\u907a\u4f1d\u5b50) <\/div>\n          <div class=\"blog-card-excerpt\">\u30eb\u30fc\u30d3\u30f3\u30b7\u30e5\u30bf\u30a4\u30f3\u30fb\u30c6\u30a4\u30d3\u30fc\u75c7\u5019\u7fa41\u578b\uff08RSTS1\uff09\u306f\u3001\u77e5\u7684\u969c\u5bb3\u3084\u6210\u9577\u969c\u5bb3\u3001\u7279\u5fb4\u7684\u306a\u9854\u306e\u7279\u5fb4\u3092\u4f34\u3046\u7a00\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002\u3053\u306e\u75c7\u5019\u7fa4\u306e\u8a3a\u65ad\u65b9\u6cd5\u3001...<\/div>\n      <\/div>\n    <\/a>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u598a\u5a20\u4e2d\u306e\u30ea\u30b9\u30af\u7ba1\u7406\u306b<br \/>\nNIPT\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p>&nbsp;<\/p>\n<\/div>\n<\/div>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%97%85%E5%9B%A0%E3%81%A8%E8%A8%BA%E6%96%AD%E3%81%AE%E6%96%B9%E6%B3%95\"><\/span>\u75c5\u56e0\u3068\u8a3a\u65ad\u306e\u65b9\u6cd5<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u30b3\u30d5\u30a3\u30f3\u30fb\u30b7\u30ea\u30b9\u75c7\u5019\u7fa41\u578b\uff08CSS1\uff09\u306f\u3001\u4e3b\u306bARID1B\u907a\u4f1d\u5b50\u306b\u5909\u7570\u304c\u751f\u3058\u308b\u3053\u3068\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u907a\u4f1d\u6027\u306e\u969c\u5bb3\u3067\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306f\u67d3\u8272\u4f536q25\u306b\u4f4d\u7f6e\u3057\u3066\u3044\u307e\u3059\u3002CSS1\u306f\u5e38\u67d3\u8272\u4f53\u512a\u6027\u907a\u4f1d\u3067\u5f15\u304d\u7d99\u304c\u308c\u307e\u3059\u3002\u3064\u307e\u308a\u3001\u5909\u7570\u3057\u305f\u907a\u4f1d\u5b50\u304c1\u3064\u3067\u3082\u3042\u308c\u3070\u3001\u75c5\u6c17\u3092\u767a\u75c7\u3059\u308b\u3053\u3068\u306b\u306a\u308a\u307e\u3059\u3002\u3057\u304b\u3057\u3001\u591a\u304f\u306e\u30b1\u30fc\u30b9\u3067\u306f\u3001\u3053\u306e\u5909\u7570\u306f\u907a\u4f1d\u7684\u3067\u306f\u306a\u304f\u3001\u767a\u751f\u904e\u7a0b\u3067\u5076\u7136\u306b\uff08de novo\uff09\u767a\u751f\u3057\u3001\u5bb6\u65cf\u5185\u306b\u524d\u4f8b\u304c\u306a\u3044\u3053\u3068\u304c\u307b\u3068\u3093\u3069\u3067\u3059\u3002\u3064\u307e\u308a\u3001CSS1\u306b\u304b\u304b\u308b\u4eba\u3005\u306f\u3001\u5bb6\u65cf\u6b74\u306b\u57fa\u3065\u3044\u305f\u907a\u4f1d\u7684\u8981\u56e0\u304c\u306a\u3044\u3053\u3068\u304c\u591a\u3044\u306e\u3067\u3059\u3002<\/p>\n\n\n\n<p>ARID1B\u907a\u4f1d\u5b50\u306f\u3001\u30af\u30ed\u30de\u30c1\u30f3\u30ea\u30e2\u30c7\u30ea\u30f3\u30b0\u3068\u3044\u3046\u907a\u4f1d\u5b50\u767a\u73fe\u3092\u8abf\u6574\u3059\u308b\u91cd\u8981\u306a\u30e1\u30ab\u30cb\u30ba\u30e0\u306b\u95a2\u4e0e\u3057\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306f\u30af\u30ed\u30de\u30c1\u30f3\u5185\u306eDNA\u69cb\u9020\u3092\u5236\u5fa1\u3057\u3001\u7279\u5b9a\u306e\u907a\u4f1d\u5b50\u306e\u6d3b\u6027\u5316\u3084\u6291\u5236\u3092\u53ef\u80fd\u306b\u3057\u307e\u3059\u3002\u7279\u306b\u795e\u7d4c\u7cfb\u306e\u767a\u9054\u306b\u304a\u3044\u3066\u91cd\u8981\u3067\u3001\u795e\u7d4c\u5e79\u7d30\u80de\u304c\u6210\u719f\u3057\u305f\u795e\u7d4c\u7d30\u80de\u306b\u5909\u5316\u3059\u308b\u904e\u7a0b\u3092\u8abf\u6574\u3057\u3066\u3044\u307e\u3059\u3002ARID1B\u306fSWI\/SNF\u30af\u30ed\u30de\u30c1\u30f3\u30ea\u30e2\u30c7\u30ea\u30f3\u30b0\u8907\u5408\u4f53\u306e\u4e00\u90e8\u3067\u3001DNA\u3068\u30d2\u30b9\u30c8\u30f3\u306e\u63a5\u89e6\u3092ATP\u4f9d\u5b58\u7684\u306b\u5909\u5316\u3055\u305b\u308b\u3053\u3068\u306b\u3088\u3063\u3066\u30af\u30ed\u30de\u30c1\u30f3\u69cb\u9020\u3092\u4fee\u6b63\u3057\u307e\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306b\u5909\u7570\u304c\u8d77\u3053\u308b\u3068\u3001\u30af\u30ed\u30de\u30c1\u30f3\u30ea\u30e2\u30c7\u30ea\u30f3\u30b0\u304c\u6b63\u5e38\u306b\u884c\u308f\u308c\u305a\u3001\u795e\u7d4c\u7cfb\u3084\u4ed6\u306e\u4f53\u306e\u30b7\u30b9\u30c6\u30e0\u306e\u767a\u9054\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u3001CSS1\u306b\u898b\u3089\u308c\u308b\u81e8\u5e8a\u7684\u7279\u5fb4\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full is-resized\"><img decoding=\"async\" width=\"425\" height=\"315\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/AF-Q8NFD5-F1.png\" alt=\"AT-rich interactive domain-containing protein 1B\" class=\"wp-image-90161\" style=\"width:585px;height:auto\"\/><\/figure><\/div>\n\n\n<p>ARID1B\u4ee5\u5916\u306b\u3082\u3001ARID1A\u3001ARID2\u3001SMARCA4\u3001SMARCB1\u3001SMARCE1\u3001SMARCC2\u3068\u3044\u3063\u305f\u907a\u4f1d\u5b50\u306e\u5909\u7570\u304c\u30b3\u30d5\u30a3\u30f3\u30fb\u30b7\u30ea\u30b9\u75c7\u5019\u7fa4\u306b\u95a2\u9023\u3057\u3066\u3044\u308b\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u304c\u3001ARID1B\u306e\u5909\u7570\u304c\u6700\u3082\u4e00\u822c\u7684\u306a\u539f\u56e0\u3067\u3059\u3002CSS1\u306e\u539f\u56e0\u3068\u306a\u308b\u907a\u4f1d\u5b50\u306b\u306f\u3001\u307e\u3060\u7279\u5b9a\u3055\u308c\u3066\u3044\u306a\u3044\u3082\u306e\u3082\u3042\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u304a\u308a\u3001\u4eca\u5f8c\u3055\u3089\u306b\u7814\u7a76\u304c\u9032\u3080\u3053\u3068\u3067\u3001CSS1\u306b\u95a2\u4e0e\u3059\u308b\u8ffd\u52a0\u306e\u907a\u4f1d\u7684\u8981\u56e0\u304c\u660e\u3089\u304b\u306b\u306a\u308b\u3053\u3068\u304c\u671f\u5f85\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>CSS1\u306b\u304a\u3051\u308b\u907a\u4f1d\u5b50\u5909\u7570\u306f\u3001\u767a\u9054\u904e\u7a0b\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3001\u767a\u9054\u9045\u5ef6\u3001\u7279\u5fb4\u7684\u306a\u9854\u306e\u7279\u5fb4\u3001\u904e\u5270\u306a\u4f53\u6bdb\uff08\u591a\u6bdb\u75c7\uff09\u3001\u767a\u80b2\u4e0d\u826f\u306e\u722a\u306a\u3069\u3001\u5178\u578b\u7684\u306a\u75c7\u72b6\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002\u307b\u3068\u3093\u3069\u306eCSS1\u306e\u75c7\u4f8b\u306f\u5076\u767a\u7684\u306a\u5909\u7570\u306b\u3088\u308b\u3082\u306e\u3067\u3059\u304c\u3001\u7a00\u306b\u3001\u4e21\u89aa\u304c\u7570\u5e38\u907a\u4f1d\u5b50\u3092\u305d\u308c\u305e\u308c1\u3064\u305a\u3064\u6301\u3063\u3066\u3044\u308b\u5834\u5408\u3001\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u30d1\u30bf\u30fc\u30f3\u3067\u767a\u75c7\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u306f\u4e00\u822c\u7684\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u4e21\u89aa\u304c\u8840\u7e01\u95a2\u4fc2\u306b\u3042\u308b\u5834\u5408\u3001\u52a3\u6027\u306e\u75c5\u6c17\u3092\u5f15\u304d\u8d77\u3053\u3059\u7570\u5e38\u907a\u4f1d\u5b50\u3092\u4e21\u65b9\u306e\u89aa\u304b\u3089\u53d7\u3051\u7d99\u3050\u30ea\u30b9\u30af\u304c\u9ad8\u304f\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"950\" height=\"500\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/b727d8783df54a3afc39e886ac1a59bf.png\" alt=\"chromo6\" class=\"wp-image-90119\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u75c7\u72b6\u306e\u9032\u884c\u3084\u65e9\u6b7b\u3092\u9632\u3050\u305f\u3081\u306b\u306f\u3001\u65e9\u671f\u304b\u3064\u6b63\u78ba\u306a\u8a3a\u65ad\u304c\u91cd\u8981\u3067\u3059\u3002\u5b9a\u671f\u7684\u306a\u7d4c\u904e\u89b3\u5bdf\u3084\u5bfe\u75c7\u7642\u6cd5\u3092\u7d44\u307f\u5408\u308f\u305b\u305f\u6cbb\u7642\u306b\u3088\u308a\u3001\u75c7\u72b6\u306e\u60aa\u5316\u3092\u9632\u3044\u3060\u308a\u3001\u547d\u3092\u5b88\u308b\u3053\u3068\u304c\u671f\u5f85\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8fd1\u5e74\u306eDNA\u89e3\u6790\u6280\u8853\u306e\u9032\u6b69\u306b\u3088\u308a\u3001\u975e\u4fb5\u8972\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\uff08<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>\uff09\u304c\u5e83\u304f\u666e\u53ca\u3057\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u306f\u3001\u5f93\u6765\u306e\u4fb5\u8972\u7684\u624b\u6cd5\u3067\u3042\u308b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chorionic-villus-test\/\">\u7d68\u6bdb\u691c\u67fb<\/a>\u3068\u3044\u3063\u305f\u65b9\u6cd5\u306b\u4ee3\u308f\u308b\u3001\u5b89\u5168\u3067\u4fe1\u983c\u6027\u306e\u9ad8\u3044\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u624b\u6cd5\u3067\u3059\u3002\u4fb5\u8972\u7684\u691c\u67fb\u306f\u3001\u91dd\u3092\u4f7f\u3063\u3066\u5b50\u5bae\u5185\u304b\u3089\u7f8a\u6c34\u3084\u7d68\u6bdb\u7d30\u80de\u306e\u30b5\u30f3\u30d7\u30eb\u3092\u63a1\u53d6\u3059\u308b\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u304c\u3001NIPT\u3067\u306f\u6bcd\u89aa\u306e\u8840\u6db2\u4e2d\u306b\u542b\u307e\u308c\u308b\u80ce\u5150\u306e\u7d30\u80de\u3092\u89e3\u6790\u3057\u307e\u3059\u3002\u80ce\u5150\u306e\u907a\u4f1d\u60c5\u5831\u3092\u8abf\u3079\u3001\u7279\u5b9a\u306e\u75be\u60a3\u306e\u30ea\u30b9\u30af\u3092\u8a55\u4fa1\u3059\u308b\u3053\u3068\u3067\u3001\u6bcd\u4f53\u3084\u80ce\u5150\u3078\u306e\u30ea\u30b9\u30af\u3092\u4f34\u308f\u305a\u306b\u9ad8\u3044\u7cbe\u5ea6\u306e\u691c\u67fb\u7d50\u679c\u304c\u5f97\u3089\u308c\u307e\u3059\u3002\u305d\u306e\u305f\u3081\u3001\u5b89\u5168\u6027\u3092\u91cd\u8996\u3059\u308b\u591a\u304f\u306e\u598a\u5a66\u306b\u9078\u3070\u308c\u308b\u65b9\u6cd5\u3068\u306a\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>CSS1\uff08\u30b3\u30d5\u30a3\u30f3-\u30b7\u30ea\u30b9\u75c7\u5019\u7fa41\u578b\uff09\u3068\u5831\u544a\u3055\u308c\u305f\u81e8\u5e8a\u4f8b\u3067\u306f\u30017\u6b73\u3067\u8133\u8840\u7ba1\u75be\u60a3\u306b\u3088\u308a\u6b7b\u4ea1\u3057\u305f\u30b1\u30fc\u30b9\u304b\u3089\u300169\u6b73\u307e\u3067\u751f\u5b58\u3057\u305f\u30b1\u30fc\u30b9\u307e\u3067\u3001\u75c7\u72b6\u306e\u91cd\u75c7\u5ea6\u306b\u5927\u304d\u306a\u500b\u4eba\u5dee\u304c\u898b\u3089\u308c\u307e\u3059\u3002\u3053\u306e\u3053\u3068\u304b\u3089\u3082\u3001\u9069\u5207\u306a\u30bf\u30a4\u30df\u30f3\u30b0\u3067\u306e\u6cbb\u7642\u3068\u9069\u5408\u3057\u305f\u7642\u990a\u30b1\u30a2\u306e\u91cd\u8981\u6027\u304c\u308f\u304b\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u598a\u5a20\u4e2d\u306e\u30ea\u30b9\u30af\u7ba1\u7406\u306b<br \/>\nNIPT\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p>&nbsp;<\/p>\n<\/div>\n<\/div>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%96%BE%E6%82%A3%E3%81%AE%E7%97%87%E7%8A%B6%E3%81%A8%E7%AE%A1%E7%90%86%E6%96%B9%E6%B3%95\"><\/span>\u75be\u60a3\u306e\u75c7\u72b6\u3068\u7ba1\u7406\u65b9\u6cd5<span 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style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"480\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/31251693_s.jpg\" alt=\"\u88dc\u8074\u5668\" class=\"wp-image-90175\"\/><\/figure><\/div>\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u6210\u9577\u3059\u308b\u306b\u3064\u308c\u3066\u3001\u767a\u9054\u306e\u9045\u308c\u304c\u6b21\u7b2c\u306b\u306f\u3063\u304d\u308a\u3068\u3057\u307e\u3059\u3002\u591a\u304f\u306e\u5b50\u3069\u3082\u304c\u72ec\u308a\u3067\u5ea7\u308b\u307e\u3067\u306b12\u304b\u6708\u3001\u6b69\u304f\u307e\u3067\u306b30\u304b\u6708\u3001\u6700\u521d\u306e\u8a00\u8449\u3092\u8a71\u3059\u307e\u3067\u306b24\u304b\u6708\u3092\u8981\u3057\u307e\u3059\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u306f\u4e2d\u7b49\u5ea6\u304b\u3089\u91cd\u5ea6\u306e\u5834\u5408\u304c\u591a\u3044\u3082\u306e\u306e\u3001\u4e00\u90e8\u306e\u60a3\u8005\u3067\u306f\u6bd4\u8f03\u7684\u9ad8\u3044\u8a8d\u77e5\u80fd\u529b\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u795e\u7d4c\u5b66\u7684\u306a\u554f\u984c\u3068\u3057\u3066\u306f\u3001\u8133\u306e\u69cb\u9020\u7570\u5e38\u3084\u3051\u3044\u308c\u3093\u767a\u4f5c\u3001\u30c1\u30c3\u30af\u304c\u542b\u307e\u308c\u307e\u3059\u304c\u3001\u3053\u308c\u3089\u306e\u75c7\u72b6\u306e\u7a0b\u5ea6\u3084\u51fa\u73fe\u6642\u671f\u306f\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>CSS1\u306e\u60a3\u8005\u306b\u306f\u3001\u592a\u3044\u7709\u6bdb\u3001\u9577\u3044\u307e\u3064\u6bdb\u3001\u5e83\u3044\u53e3\u306a\u3069\u306e\u7279\u5fb4\u7684\u306a\u9854\u7acb\u3061\u304c\u3088\u304f\u898b\u3089\u308c\u307e\u3059\u3002\u3055\u3089\u306b\u3001\u5c0f\u3055\u306a\u7b2c\u4e94\u6307\u306e\u722a\u3001\u9aa8\u306e\u767a\u9054\u9045\u5ef6\u3001\u95a2\u7bc0\u306e\u67d4\u3089\u304b\u3055\u3001\u810a\u690e\u5074\u5f2f\u306a\u3069\u3001\u7b4b\u9aa8\u683c\u7cfb\u306e\u7570\u5e38\u3082\u4e00\u822c\u7684\u3067\u3059\u3002\u76ae\u819a\u3084\u6bdb\u9aea\u306e\u5909\u5316\u3068\u3057\u3066\u3001\u591a\u6bdb\u75c7\u304c\u307b\u3068\u3093\u3069\u306e\u60a3\u8005\u306b\u898b\u3089\u308c\u3001\u4e00\u90e8\u306e\u60a3\u8005\u3067\u306f\u982d\u9aea\u304c\u8584\u3044\u3001\u307e\u305f\u306f\u975e\u5e38\u306b\u7d30\u3044\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u305d\u306e\u4ed6\u306e\u7279\u5fb4\u3068\u3057\u3066\u3001\u5e73\u5747\u3088\u308a\u3082\u8eab\u9577\u3084\u4f53\u91cd\u304c\u4f4e\u3044\u6210\u9577\u4e0d\u8db3\u3084\u3001\u6b6f\u306e\u767a\u9054\u306e\u9045\u308c\u304c\u6319\u3052\u3089\u308c\u307e\u3059\u3002\u307e\u305f\u3001\u983b\u7e41\u306a\u611f\u67d3\u75c7\u3001\u7279\u306b\u4e0a\u6c17\u9053\u611f\u67d3\u75c7\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u5fc3\u81d3\u3084\u814e\u81d3\u306b\u7570\u5e38\u3092\u6301\u3064\u60a3\u8005\u3082\u304a\u308a\u3001\u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d\u75c7\u3084\u99ac\u8e44\u814e\u306a\u3069\u306e\u4f8b\u304c\u7d043\u5206\u306e1\u306b\u898b\u3089\u308c\u307e\u3059\u3002\u4e00\u65b9\u3067\u3001CSS1\u306b\u95a2\u9023\u3059\u308b\u816b\u760d\u30ea\u30b9\u30af\u306f\u975e\u5e38\u306b\u7a00\u3067\u3042\u308a\u3001\u816b\u760d\u691c\u67fb\u306f\u4e00\u822c\u7684\u306b\u63a8\u5968\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"359\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/31423182_s.jpg\" alt=\"\u6804\u990a\" class=\"wp-image-87412\"\/><\/figure><\/div>\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u98df\u7269\u7e4a\u7dad\u3092\u591a\u304f\u542b\u3080\u98df\u4e8b\u306f\u3001\u8178\u5185\u74b0\u5883\u3092\u6539\u5584\u3057\u3001\u9593\u63a5\u7684\u306b\u30b3\u30d5\u30a3\u30f3\u30fb\u30b7\u30ea\u30b9\u75c7\u5019\u7fa4\uff08CSS\uff09\u306e\u4eba\u3005\u306b\u826f\u3044\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002CSS\u306f\u3001ARID1A\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u3001\u8a8d\u77e5\u6a5f\u80fd\u306e\u969c\u5bb3\u3084\u8133\u306e\u69cb\u9020\u30fb\u6a5f\u80fd\u306e\u7570\u5e38\u3092\u3082\u305f\u3089\u3059\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u7814\u7a76\u306b\u3088\u308b\u3068\u3001\u795e\u7d4c\u7d30\u80de\u306b\u304a\u3051\u308bARID1A\u306e\u55aa\u5931\u306f\u3001\u30b7\u30ca\u30d7\u30b9\u4f1d\u9054\u3001\u6a39\u72b6\u7a81\u8d77\u306e\u5206\u5c90\u3001\u96fb\u6c17\u751f\u7406\u5b66\u7684\u306a\u6d3b\u52d5\u306b\u7570\u5e38\u3092\u5f15\u304d\u8d77\u3053\u3059\u3053\u3068\u304c\u793a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6ce8\u76ee\u3059\u3079\u304d\u70b9\u3068\u3057\u3066\u3001\u30a2\u30bb\u30c6\u30fc\u30c8\uff08\u77ed\u9396\u8102\u80aa\u9178\u306e\u4e00\u7a2e\uff09\u306f\u3001\u8178\u5185\u7d30\u83cc\u304c\u98df\u7269\u7e4a\u7dad\u3092\u767a\u9175\u3059\u308b\u904e\u7a0b\u3067\u751f\u6210\u3055\u308c\u3001ARID1A\u306e\u6b20\u640d\u306b\u3088\u308b\u3053\u308c\u3089\u306e\u7570\u5e38\u3092\u52d5\u7269\u30e2\u30c7\u30eb\u3084\u30d2\u30c8\u795e\u7d4c\u7d30\u80de\u3067\u6539\u5584\u3059\u308b\u3053\u3068\u304c\u78ba\u8a8d\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u30a2\u30bb\u30c6\u30fc\u30c8\u306f\u3001H3K27\u30a2\u30bb\u30c1\u30eb\u5316\u30ec\u30d9\u30eb\u3092\u5897\u52a0\u3055\u305b\u308b\u3053\u3068\u3067\u3001\u795e\u7d4c\u767a\u9054\u3084\u30b7\u30ca\u30d7\u30b9\u6a5f\u80fd\u306b\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u306e\u6d3b\u6027\u3092\u9ad8\u3081\u307e\u3059\u3002\u98df\u7269\u7e4a\u7dad\u3092\u6442\u53d6\u3057\u3066\u8178\u5185\u3067\u30a2\u30bb\u30c6\u30fc\u30c8\u3092\u751f\u6210\u3059\u308b\u3053\u3068\u3067\u3001\u3053\u308c\u3089\u306e\u4fdd\u8b77\u52b9\u679c\u3092\u6d3b\u7528\u3057\u3001CSS\u306e\u4eba\u3005\u306e\u8a8d\u77e5\u6a5f\u80fd\u3092\u652f\u63f4\u3067\u304d\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"426\" src=\"\/nipt\/wp-content\/uploads\/2024\/12\/31175656_s.jpg\" alt=\"\u554f\u8a3a\" class=\"wp-image-87133\"\/><\/figure><\/div>\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>CSS1\u306e\u6cbb\u7642\u306b\u306f\u3001\u500b\u3005\u306e\u75c7\u72b6\u306b\u5fdc\u3058\u305f\u5305\u62ec\u7684\u306a\u30a2\u30d7\u30ed\u30fc\u30c1\u304c\u5fc5\u8981\u3067\u3059\u3002\u8a3a\u65ad\u5f8c\u306b\u306f\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3084\u795e\u7d4c\u5b66\u7684\u8a55\u4fa1\u3092\u542b\u3080\u7dcf\u5408\u7684\u306a\u691c\u67fb\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002\u3053\u308c\u306b\u306f\u3001\u5fc3\u81d3\u3084\u814e\u81d3\u306e\u7570\u5e38\u3092\u78ba\u8a8d\u3059\u308b\u305f\u3081\u306e\u8d85\u97f3\u6ce2\u691c\u67fb\u3001\u6804\u990a\u72b6\u614b\u3084\u8996\u899a\u3001\u8074\u899a\u306e\u8a55\u4fa1\u304c\u542b\u307e\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6cbb\u7642\u306b\u306f\u3001\u4f5c\u696d\u7642\u6cd5\u3001\u7406\u5b66\u7642\u6cd5\u3001\u8a00\u8a9e\u7642\u6cd5\u306b\u3088\u308b\u767a\u9054\u652f\u63f4\u3084\u3001\u6442\u98df\u56f0\u96e3\u306b\u5bfe\u3059\u308b\u6442\u98df\u7642\u6cd5\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u305f\u80c3\u763b\u30c1\u30e5\u30fc\u30d6\u306e\u4f7f\u7528\u304c\u542b\u307e\u308c\u307e\u3059\u3002\u307e\u305f\u3001\u8996\u529b\u77ef\u6b63\u3084\u659c\u8996\u30fb\u773c\u77bc\u4e0b\u5782\u306e\u624b\u8853\u3001\u88dc\u8074\u5668\u306b\u3088\u308b\u8074\u529b\u652f\u63f4\u3082\u884c\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n    <a href=\"\/nipt\/xp11-22-p11-23-duplication-syndrome\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">Xp11.22-p11.23 \u91cd\u8907\u75c7\u5019\u7fa4 <\/div>\n          <div class=\"blog-card-excerpt\">Xp11.22-p11.23\u91cd\u8907\u75c7\u5019\u7fa4\u306f\u3001X\u67d3\u8272\u4f53\u306ep11.22-p11.23\u9818\u57df\u306e\u91cd\u8907\u306b\u3088\u308a\u767a\u75c7\u3057\u3001\u767a\u9054\u9045\u5ef6\u3001\u77e5\u7684\u969c\u5bb3\u3001\u884c\u52d5\u7570\u5e38\u3001\u8eab\u4f53\u7684\u7570...<\/div>\n      <\/div>\n    <\/a>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u598a\u5a20\u4e2d\u306e\u30ea\u30b9\u30af\u7ba1\u7406\u306b<br \/>\nNIPT\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p>&nbsp;<\/p>\n<\/div>\n<\/div>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u4e8c\u6b21\u7684\u306a\u5408\u4f75\u75c7\u3092\u9632\u3050\u305f\u3081\u306b\u306f\u3001\u5c02\u9580\u533b\u306b\u3088\u308b\u5b9a\u671f\u7684\u306a\u30d5\u30a9\u30ed\u30fc\u30a2\u30c3\u30d7\u304c\u91cd\u8981\u3067\u3059\u3002\u3053\u308c\u306b\u306f\u3001\u6210\u9577\u3084\u767a\u9054\u306e\u9032\u6357\u3092\u78ba\u8a8d\u3059\u308b\u305f\u3081\u306e\u5e74\u6b21\u8a55\u4fa1\u3001\u5fc3\u81d3\u3084\u795e\u7d4c\u7cfb\u3001\u8996\u899a\u3001\u8074\u899a\u306e\u7d99\u7d9a\u7684\u306a\u691c\u67fb\u304c\u542b\u307e\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>CSS1\u306f\u4e00\u751f\u7d9a\u304f\u75be\u60a3\u3067\u3059\u304c\u3001\u65e9\u671f\u306e\u4ecb\u5165\u3068\u9069\u5207\u306a\u30b5\u30dd\u30fc\u30c8\u306b\u3088\u308a\u3001\u60a3\u8005\u306e\u751f\u6d3b\u306e\u8cea\u3084\u767a\u9054\u306e\u53ef\u80fd\u6027\u3092\u5927\u304d\u304f\u9ad8\u3081\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\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\/24156031_s.jpg\" alt=\"\u5b50\u3069\u3082\u3092\u611b\u3055\u306a\u3044\u3068\" class=\"wp-image-87708\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%82%82%E3%81%A3%E3%81%A8%E7%9F%A5%E3%82%8A%E3%81%9F%E3%81%84%E6%96%B9%E3%81%B8\"><\/span>\u3082\u3063\u3068\u77e5\u308a\u305f\u3044\u65b9\u3078<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u3010\u652f\u63f4\u56e3\u30fb\u5199\u771f\u3042\u308a\u30fb\u82f1\u8a9e\u3011<a href=\"https:\/\/www.coffinsiris.org\/\">Coffin-Siris Syndrome Foundation<\/a><\/p>\n\n\n\n<p><sup>\u30b3\u30d5\u30a3\u30f3\u30fb\u30b7\u30ea\u30b9\u75c7\u5019\u7fa4\u8ca1\u56e3\u306f\u3001\u30b3\u30d5\u30a3\u30f3\u30fb\u30b7\u30ea\u30b9\u75c7\u5019\u7fa4\uff08CSS\uff09\u306e\u5f71\u97ff\u3092\u53d7\u3051\u305f\u30dc\u30e9\u30f3\u30c6\u30a3\u30a2\u306b\u3088\u3063\u3066\u904b\u55b6\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u8ca1\u56e3\u306f\u3001CSS\u30b3\u30df\u30e5\u30cb\u30c6\u30a3\u3092\u652f\u63f4\u3057\u3001\u3053\u306e\u7a00\u5c11\u306a\u75c7\u5019\u7fa4\u306b\u95a2\u3059\u308b\u7406\u89e3\u3092\u6df1\u3081\u308b\u305f\u3081\u306e\u7814\u7a76\u3092\u63a8\u9032\u3059\u308b\u3053\u3068\u3092\u76ee\u7684\u3068\u3057\u3066\u3044\u307e\u3059\u3002<\/sup><\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u598a\u5a20\u4e2d\u306e\u30ea\u30b9\u30af\u7ba1\u7406\u306b<br \/>\nNIPT\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p>&nbsp;<\/p>\n<\/div>\n<\/div>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%BC%95%E7%94%A8%E6%96%87%E7%8C%AE\"><\/span>\u5f15\u7528\u6587\u732e<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/doi.org\/10.1161\/CIRCULATIONAHA.116.024545\">Marques, F. Z., Nelson, E., Chu, P.-Y., Horlock, D., Fiedler, A., Ziemann, M., Tan, J. K., Kuruppu, S., Rajapakse, N. W., El-Osta, A., Mackay, C. R., &amp; Kaye, D. M. (2017). High-fiber diet and acetate supplementation change the gut microbiota and prevent the development of hypertension and heart failure in hypertensive mice. <em>Circulation<\/em>, <em>135<\/em>(10), 964\u2013977. https:\/\/doi.org\/10.1161\/CIRCULATIONAHA.116.024545<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.15252\/emmm.202215795\">Liu, P. P., Dai, S. K., Mi, T. W., Tang, G. B., Wang, Z., Wang, H., Du, H. Z., Tang, Y., Teng, Z. Q., &amp; Liu, C. M. (2022). Acetate supplementation restores cognitive deficits caused by ARID1A haploinsufficiency in excitatory neurons. <em>EMBO molecular medicine<\/em>, <em>14<\/em>(12), e15795. https:\/\/doi.org\/10.15252\/emmm.202215795<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1186\/s12920-024-01904-9\">Huang, X., Li, H., Yang, S., Ma, M., Lian, Y., Wu, X., Qi, X., Wang, X., Rong, W., &amp; Sheng, X. (2024). De novo variation in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia. <em>BMC Medical Genomics<\/em>, <em>17<\/em>(1), 142. https:\/\/doi.org\/10.1186\/s12920-024-01904-9<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK541502\/\">Vergano SA, van der Sluijs PJ, Santen G. ARID1B-Related Disorder. 2019 May 23. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK541502\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK131811\/\">Schrier Vergano S, Santen G, Wieczorek D, et al. Coffin-Siris Syndrome. 2013 Apr 4 [Updated 2021 Aug 12]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK131811\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/omim.org\/entry\/135900\">Online Mendelian Inheritance in Man. (Last updated February 2020 by Cassandra L. Kniffin). Retreived from https:\/\/omim.org\/entry\/135900<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1093\/nar\/gkae974\">Perez, G., Barber, G. P., Benet-Pages, A., Casper, J., Clawson, H., Diekhans, M., Fischer, C., Gonzalez, J. N., Hinrichs, A. S., Lee, C. M., Nassar, L. R., Raney, B. J., Speir, M. L., van Baren, M. J., Vaske, C. J., Haussler, D., Kent, W. J., &amp; Haeussler, M. (2024). The UCSC Genome Browser database: 2025 update. Nucleic Acids Research, gkae974. https:\/\/doi.org\/10.1093\/nar\/gkae974<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1093\/nar\/gkad1049\">Harrison, P. W., Amode, M. R., Austine-Orimoloye, O., Azov, A. G., Barba, M., Barnes, I., Becker, A., Bennett, R., Berry, A., Bhai, J., Bhurji, S. K., Boddu, S., Branco Lins, P. R., Brooks, L., Budhanuru Ramaraju, S., Campbell, L. I., Carbajo Martinez, M., Charkhchi, M., Chougule, K., \u2026 Yates, A. D. (2024). Ensembl 2024. Nucleic Acids Research, 52(D1), D891\u2013D899. https:\/\/doi.org\/10.1093\/nar\/gkad1049<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.nature.com\/articles\/s41586-021-03819-2\" target=\"_blank\" rel=\"noreferrer noopener\">Jumper, J <em>et al<\/em>. Highly accurate protein structure prediction with AlphaFold. <em>Nature<\/em> (2021)<\/a>.<\/li>\n\n\n\n<li><a href=\"https:\/\/academic.oup.com\/nar\/advance-article\/doi\/10.1093\/nar\/gkab1061\/6430488\" target=\"_blank\" rel=\"noreferrer noopener\">Varadi, M <em>et al<\/em>. AlphaFold Protein Structure Database: massively expanding the structural coverage of protein-sequence space with high-accuracy models. <em>Nucleic Acids Research <\/em>(2021)<\/a>.<\/li>\n<\/ul>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u598a\u5a20\u4e2d\u306e\u30ea\u30b9\u30af\u7ba1\u7406\u306b<br \/>\nNIPT\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p>&nbsp;<\/p>\n<\/div>\n<\/div>\n","protected":false},"excerpt":{"rendered":"\u3053\u306e\u8a18\u4e8b\u306e\u307e\u3068\u3081\u30b3\u30d5\u30a3\u30f3\u30fb\u30b7\u30ea\u30b9\u75c7\u5019\u7fa41&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/coffin-siris-syndrome-1-css1\/\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":101,"featured_media":88048,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[58],"tags":[356,33,43,49],"class_list":["post-83503","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-genetic-disorder","tag-356","tag-symptom","tag-gene","tag-genetic-disease"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/83503","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/users\/101"}],"replies":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/comments?post=83503"}],"version-history":[{"count":19,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/83503\/revisions"}],"predecessor-version":[{"id":125375,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/83503\/revisions\/125375"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/88048"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=83503"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=83503"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=83503"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}