{"id":83435,"date":"2024-11-14T12:02:47","date_gmt":"2024-11-14T03:02:47","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=83435"},"modified":"2026-07-31T05:18:29","modified_gmt":"2026-07-30T20:18:29","slug":"2q33-1_deletion_syndrome","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/2q33-1_deletion_syndrome\/","title":{"rendered":"2q33.1\u6b20\u5931\u75c7\u5019\u7fa4\uff082q33.1 microdeletion syndrome\uff09"},"content":{"rendered":"\n<p><strong>\u7d50\u8ad6\u304b\u3089\u304a\u4f1d\u3048\u3057\u307e\u3059\u30022q33.1\u6b20\u5931\u75c7\u5019\u7fa4\uff08SATB2\u95a2\u9023\u75c7\u5019\u7fa4\uff09\u306f\u3001\u67d3\u8272\u4f532q33.1\u9818\u57df\u306b\u3042\u308bSATB2\u907a\u4f1d\u5b50\u3092\u542b\u3080\u90e8\u5206\u304c\u6b20\u3051\u308b\u3053\u3068\u3067\u8d77\u3053\u308b\u3001\u975e\u5e38\u306b\u307e\u308c\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002<\/strong>\u767a\u9054\u306e\u9045\u308c\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3001\u7279\u5fb4\u7684\u306a\u9854\u7acb\u3061\u3001\u6b6f\u3084\u9aa8\u683c\u306e\u7570\u5e38\u306a\u3069\u304c\u307f\u3089\u308c\u307e\u3059\u304c\u3001\u75c7\u72b6\u306e\u91cd\u3055\u306f\u4e00\u4eba\u3072\u3068\u308a\u5927\u304d\u304f\u7570\u306a\u308a\u307e\u3059\u3002\u3053\u306e\u8a18\u4e8b\u3067\u306f\u3001\u539f\u56e0\u907a\u4f1d\u5b50SATB2\u306e\u50cd\u304d\u304b\u3089\u75c7\u72b6\u3001\u8a3a\u65ad\u306e\u6d41\u308c\u3001\u305d\u3057\u3066NIPT\uff08\u65b0\u578b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\uff09\u3068\u306e\u95a2\u4fc2\u307e\u3067\u3001\u533b\u5b66\u6587\u732e\u306b\u3082\u3068\u3065\u3044\u3066\u6574\u7406\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"border:1px solid #e5397f;border-radius:8px;padding:16px 20px;margin:20px 0;background:#fff5f9;\">\n<p style=\"font-weight:bold;margin:0 0 8px;font-size:1.05em;\">\u3053\u306e\u8a18\u4e8b\u3067\u308f\u304b\u308b\u3053\u3068<\/p>\n<ul style=\"margin:0;padding-left:1.2em;\">\n<li>2q33.1\u6b20\u5931\u75c7\u5019\u7fa4\uff08SATB2\u95a2\u9023\u75c7\u5019\u7fa4\uff09\u3068\u30b0\u30e9\u30b9\u75c7\u5019\u7fa4\u306e\u9055\u3044<\/li>\n<li>\u539f\u56e0\u907a\u4f1d\u5b50SATB2\u306e\u50cd\u304d\u3068\u3001\u6b20\u5931\u306b\u3088\u3063\u3066\u8d77\u3053\u308b\u75c7\u72b6\u306e\u3057\u304f\u307f<\/li>\n<li>\u767a\u9054\u30fb\u8eab\u4f53\u30fb\u884c\u52d5\u306b\u3042\u3089\u308f\u308c\u308b\u4e3b\u306a\u7279\u5fb4\u3068\u7ba1\u7406\u65b9\u6cd5<\/li>\n<li>NIPT\u30672q33.1\u9818\u57df\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u304c\u308f\u304b\u308b\u306e\u304b\u3001\u308f\u304b\u3089\u306a\u3044\u306e\u304b<\/li>\n<li>\u967d\u6027\u5224\u5b9a\u5f8c\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u306b\u3088\u308b\u78ba\u5b9a\u8a3a\u65ad\u3068\u3001\u8cbb\u7528\u88dc\u52a9\u5236\u5ea6\u306e\u5185\u5bb9<\/li>\n<\/ul>\n<\/div>\n\n\n\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_86 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 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>2q33.1\u6b20\u5931\u75c7\u5019\u7fa4\uff08SATB2\u95a2\u9023\u75c7\u5019\u7fa4\uff09\u3068\u306f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/2q33-1_deletion_syndrome\/#%E5%8E%9F%E5%9B%A0%E3%81%AFSATB2%E9%81%BA%E4%BC%9D%E5%AD%90%EF%BD%9C%E6%9F%93%E8%89%B2%E4%BD%932q331%E9%A0%98%E5%9F%9F%E3%81%A7%E4%BD%95%E3%81%8C%E8%B5%B7%E3%81%8D%E3%81%A6%E3%81%84%E3%82%8B%E3%81%8B\" >\u539f\u56e0\u306fSATB2\u907a\u4f1d\u5b50\uff5c\u67d3\u8272\u4f532q33.1\u9818\u57df\u3067\u4f55\u304c\u8d77\u304d\u3066\u3044\u308b\u304b<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/2q33-1_deletion_syndrome\/#%E4%B8%BB%E3%81%AA%E7%97%87%E7%8A%B6%EF%BD%9C%E7%99%BA%E9%81%94%E3%83%BB%E8%BA%AB%E4%BD%93%E7%9A%84%E7%89%B9%E5%BE%B4%E3%83%BB%E8%A1%8C%E5%8B%95%E3%81%AE%E7%89%B9%E6%80%A7\" >\u4e3b\u306a\u75c7\u72b6\uff5c\u767a\u9054\u30fb\u8eab\u4f53\u7684\u7279\u5fb4\u30fb\u884c\u52d5\u306e\u7279\u6027<\/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\/2q33-1_deletion_syndrome\/#%E8%A8%BA%E6%96%AD%E3%81%AF%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AB%E8%A1%8C%E3%82%8F%E3%82%8C%E3%82%8B%E3%81%8B%EF%BD%9C%E8%87%A8%E5%BA%8A%E6%89%80%E8%A6%8B%E3%81%8B%E3%82%89%E9%81%BA%E4%BC%9D%E5%AD%A6%E7%9A%84%E6%A4%9C%E6%9F%BB%E3%81%BE%E3%81%A7\" >\u8a3a\u65ad\u306f\u3069\u306e\u3088\u3046\u306b\u884c\u308f\u308c\u308b\u304b\uff5c\u81e8\u5e8a\u6240\u898b\u304b\u3089\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u307e\u3067<\/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\/2q33-1_deletion_syndrome\/#%E5%87%BA%E7%94%9F%E5%89%8D%E3%81%AB%E3%82%8F%E3%81%8B%E3%82%8B%EF%BC%9FNIPT%E3%81%A82q331%E6%AC%A0%E5%A4%B1%E7%97%87%E5%80%99%E7%BE%A4%E3%81%AE%E9%96%A2%E4%BF%82\" >\u51fa\u751f\u524d\u306b\u308f\u304b\u308b\uff1fNIPT\u30682q33.1\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u95a2\u4fc2<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/2q33-1_deletion_syndrome\/#NIPT%E3%81%A7%E9%99%BD%E6%80%A7%E3%81%A0%E3%81%A3%E3%81%9F%E5%A0%B4%E5%90%88%E3%81%AE%E6%B5%81%E3%82%8C%EF%BD%9C%E7%BE%8A%E6%B0%B4%E6%A4%9C%E6%9F%BB%E3%81%AB%E3%82%88%E3%82%8B%E7%A2%BA%E5%AE%9A%E8%A8%BA%E6%96%AD%E3%81%A8%E8%B2%BB%E7%94%A8%E8%A3%9C%E5%8A%A9%E5%88%B6%E5%BA%A6\" >NIPT\u3067\u967d\u6027\u3060\u3063\u305f\u5834\u5408\u306e\u6d41\u308c\uff5c\u7f8a\u6c34\u691c\u67fb\u306b\u3088\u308b\u78ba\u5b9a\u8a3a\u65ad\u3068\u8cbb\u7528\u88dc\u52a9\u5236\u5ea6<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/2q33-1_deletion_syndrome\/#%E6%B2%BB%E7%99%82%E3%83%BB%E7%AE%A1%E7%90%86%E6%96%B9%E6%B3%95%EF%BD%9C%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%B5%E3%83%9D%E3%83%BC%E3%83%88%E3%82%B1%E3%82%A2\" >\u6cbb\u7642\u30fb\u7ba1\u7406\u65b9\u6cd5\uff5c\u591a\u8077\u7a2e\u9023\u643a\u306b\u3088\u308b\u30b5\u30dd\u30fc\u30c8\u30b1\u30a2<\/a><\/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\/2q33-1_deletion_syndrome\/#%E5%B0%86%E6%9D%A5%E3%81%AE%E8%A6%8B%E9%80%9A%E3%81%97%EF%BC%88%E4%BA%88%E5%BE%8C%EF%BC%89\" >\u5c06\u6765\u306e\u898b\u901a\u3057\uff08\u4e88\u5f8c\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/2q33-1_deletion_syndrome\/#%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%EF%BD%9C%E4%BF%A1%E9%A0%BC%E3%81%A7%E3%81%8D%E3%82%8B%E6%83%85%E5%A0%B1%E6%BA%90\" >\u3082\u3063\u3068\u77e5\u308a\u305f\u3044\u65b9\u3078\uff5c\u4fe1\u983c\u3067\u304d\u308b\u60c5\u5831\u6e90<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/2q33-1_deletion_syndrome\/#%E3%82%88%E3%81%8F%E3%81%82%E3%82%8B%E8%B3%AA%E5%95%8F%EF%BC%88FAQ%EF%BC%89\" >\u3088\u304f\u3042\u308b\u8cea\u554f\uff08FAQ\uff09<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/2q33-1_deletion_syndrome\/#Q1_2q331%E6%AC%A0%E5%A4%B1%E7%97%87%E5%80%99%E7%BE%A4%E3%81%AF%E3%81%A9%E3%81%AE%E3%81%8F%E3%82%89%E3%81%84%E3%81%BE%E3%82%8C%E3%81%AA%E7%97%85%E6%B0%97%E3%81%A7%E3%81%99%E3%81%8B%EF%BC%9F\" >Q1. 2q33.1\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u3069\u306e\u304f\u3089\u3044\u307e\u308c\u306a\u75c5\u6c17\u3067\u3059\u304b\uff1f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-12\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/2q33-1_deletion_syndrome\/#Q2_NIPT%E3%81%A72q331%E6%AC%A0%E5%A4%B1%E7%97%87%E5%80%99%E7%BE%A4%E3%81%AF%E3%82%8F%E3%81%8B%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\" >Q2. NIPT\u30672q33.1\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u308f\u304b\u308a\u307e\u3059\u304b\uff1f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-13\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/2q33-1_deletion_syndrome\/#Q3_%E5%A6%8A%E5%A8%A0%E4%B8%AD%E3%81%AE%E7%BE%8A%E6%B0%B4%E6%A4%9C%E6%9F%BB%E3%81%AF%E5%BF%85%E3%81%9A%E5%BF%85%E8%A6%81%E3%81%A7%E3%81%99%E3%81%8B%EF%BC%9F\" >Q3. \u598a\u5a20\u4e2d\u306e\u7f8a\u6c34\u691c\u67fb\u306f\u5fc5\u305a\u5fc5\u8981\u3067\u3059\u304b\uff1f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/2q33-1_deletion_syndrome\/#Q4_%E5%AD%90%E3%81%A9%E3%82%82%E3%81%AE%E7%9F%A5%E7%9A%84%E9%9A%9C%E5%AE%B3%E3%81%AE%E7%A8%8B%E5%BA%A6%E3%81%AF%E3%81%A9%E3%82%8C%E3%81%8F%E3%82%89%E3%81%84%E3%81%AB%E3%81%AA%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\" >Q4. \u5b50\u3069\u3082\u306e\u77e5\u7684\u969c\u5bb3\u306e\u7a0b\u5ea6\u306f\u3069\u308c\u304f\u3089\u3044\u306b\u306a\u308a\u307e\u3059\u304b\uff1f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-15\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/2q33-1_deletion_syndrome\/#Q5_%E6%B2%BB%E7%99%82%E6%B3%95%E3%81%AF%E3%81%82%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\" >Q5. \u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u3059\u304b\uff1f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/2q33-1_deletion_syndrome\/#Q6_%E7%9B%B8%E8%AB%87%E3%81%A7%E3%81%8D%E3%82%8B%E7%AA%93%E5%8F%A3%E3%81%AF%E3%81%82%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\" >Q6. \u76f8\u8ac7\u3067\u304d\u308b\u7a93\u53e3\u306f\u3042\u308a\u307e\u3059\u304b\uff1f<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/2q33-1_deletion_syndrome\/#%E3%81%BE%E3%81%A8%E3%82%81\" >\u307e\u3068\u3081<\/a><\/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\/2q33-1_deletion_syndrome\/#%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=\"2q331%E6%AC%A0%E5%A4%B1%E7%97%87%E5%80%99%E7%BE%A4%EF%BC%88SATB2%E9%96%A2%E9%80%A3%E7%97%87%E5%80%99%E7%BE%A4%EF%BC%89%E3%81%A8%E3%81%AF\"><\/span>2q33.1\u6b20\u5931\u75c7\u5019\u7fa4\uff08SATB2\u95a2\u9023\u75c7\u5019\u7fa4\uff09\u3068\u306f<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>2q33.1\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u3001SATB2\u907a\u4f1d\u5b50\u3092\u542b\u3080\u67d3\u8272\u4f532q33.1\u9818\u57df\u306e\u5fae\u5c0f\u306a\u6b20\u5931\u306b\u3088\u3063\u3066\u767a\u9054\u3084\u9aa8\u683c\u3001\u9854\u7acb\u3061\u306b\u5f71\u97ff\u304c\u53ca\u3076\u75be\u60a3\u3067\u3059\u3002<\/strong>\u300cSATB2\u95a2\u9023\u75c7\u5019\u7fa4\uff08SAS\uff09\u300d\u300c\u30b0\u30e9\u30b9\u75c7\u5019\u7fa4\uff08Glass syndrome\uff09\u300d\u3068\u3044\u3046\u547c\u3073\u65b9\u3067\u3082\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img loading=\"lazy\" decoding=\"async\" width=\"1024\" height=\"18\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/2q32q33-glass-hgtIdeo_genome_asia_3506ef_d4a30-1024x18.png\" alt=\"\u67d3\u8272\u4f532q32-q33\u9818\u57df\u306e\u6a21\u5f0f\u56f3\" class=\"wp-image-89599\"\/><\/figure><\/div>\n\n\n<p>\u30b0\u30e9\u30b9\u75c7\u5019\u7fa4\u306f\u3001\u67d3\u8272\u4f532q32.2-q33.1\u306e\u9593\u6b20\u7684\u306a\u6b20\u5931\u306b\u3088\u3063\u3066\u8d77\u3053\u308b\u75c5\u6c17\u3067\u30011989\u5e74\u306b\u521d\u3081\u3066\u5831\u544a\u3055\u308c\u307e\u3057\u305f\u3002\u91cd\u5ea6\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3001\u5c0f\u982d\u75c7\u3001\u982d\u84cb\u9854\u9762\u306e\u7570\u5f62\u6210\u304c\u7279\u5fb4\u3067\u3059\u3002\u305d\u306e16\u5e74\u5f8c\u306b\u306f\u3001\u767a\u9054\u306e\u9045\u308c\u306b\u52a0\u3048\u3066\u3001\u653b\u6483\u6027\u3084\u4e0d\u5b89\u3001\u81ea\u5df1\u50b7\u5bb3\u3068\u843d\u3061\u7740\u3044\u305f\u5e78\u798f\u611f\u304c\u4ea4\u4e92\u306b\u73fe\u308c\u308b\u72ec\u7279\u306e\u884c\u52d5\u304c4\u4eba\u306e\u75c7\u4f8b\u3067\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u305d\u306e\u5f8c\u306e\u7814\u7a76\u3067\u3001SATB2\u907a\u4f1d\u5b50\u3060\u3051\u304c\u6b20\u3051\u308b\u3088\u308a\u5c0f\u3055\u306a\u6b20\u5931\uff082q33.1<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u75c7\u5019\u7fa4\uff09\u3067\u3082\u3001\u91cd\u5ea6\u306e\u767a\u9054\u9045\u5ef6\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u30fb\u6b6f\u306e\u7570\u5e38\u3092\u5171\u901a\u3057\u3066\u3082\u3064\u60a3\u8005\u304c\u3044\u308b\u3053\u3068\u304c\u5206\u304b\u308a\u307e\u3057\u305f\u3002\u3064\u307e\u308a\u3001\u30b0\u30e9\u30b9\u75c7\u5019\u7fa4\u3068SATB2\u95a2\u9023\u75c7\u5019\u7fa4\u306f\u540c\u3058\u67d3\u8272\u4f53\u9818\u57df\u306b\u307e\u305f\u304c\u308b\u3001\u5730\u7d9a\u304d\u306e\u75be\u60a3\u7fa4\u3068\u3057\u3066\u7406\u89e3\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306f\u4e16\u754c\u7684\u306b\u3082\u5831\u544a\u4f8b\u304c\u5c11\u306a\u304f\u3001<strong>\u5f71\u97ff\u3092\u53d7\u3051\u3066\u3044\u308b\u4eba\u306f\u4e16\u754c\u5168\u4f53\u30671000\u4eba\u672a\u6e80<\/strong>\u3068\u63a8\u5b9a\u3055\u308c\u308b\u6975\u3081\u3066\u307e\u308c\u306a\u75be\u60a3\u3067\u3059\uff08GeneReviews\uff09\u3002\u8a8d\u77e5\u5ea6\u304c\u4f4e\u3044\u5206\u3001\u8a3a\u65ad\u540d\u3092\u521d\u3081\u3066\u805e\u304f\u3054\u5bb6\u65cf\u3082\u5c11\u306a\u304f\u3042\u308a\u307e\u305b\u3093\u3002\u307e\u305a\u306f\u300c\u307e\u308c\u3067\u306f\u3042\u308b\u304c\u3001\u539f\u56e0\u3068\u75c7\u72b6\u306e\u95a2\u9023\u304c\u533b\u5b66\u7684\u306b\u6574\u7406\u3055\u308c\u3064\u3064\u3042\u308b\u75c5\u6c17\u300d\u3060\u3068\u77e5\u3063\u3066\u3044\u305f\u3060\u304f\u3053\u3068\u304b\u3089\u59cb\u3081\u305f\u3044\u3068\u8003\u3048\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%8E%9F%E5%9B%A0%E3%81%AFSATB2%E9%81%BA%E4%BC%9D%E5%AD%90%EF%BD%9C%E6%9F%93%E8%89%B2%E4%BD%932q331%E9%A0%98%E5%9F%9F%E3%81%A7%E4%BD%95%E3%81%8C%E8%B5%B7%E3%81%8D%E3%81%A6%E3%81%84%E3%82%8B%E3%81%8B\"><\/span>\u539f\u56e0\u306fSATB2\u907a\u4f1d\u5b50\uff5c\u67d3\u8272\u4f532q33.1\u9818\u57df\u3067\u4f55\u304c\u8d77\u304d\u3066\u3044\u308b\u304b<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u75c7\u72b6\u306e\u4e3b\u306a\u539f\u56e0\u306f\u3001SATB2\u907a\u4f1d\u5b50\u306e\u30d8\u30c6\u30ed\u63a5\u5408\u578b\u5909\u7570\u307e\u305f\u306f\u6b20\u5931\u306b\u3088\u308a\u3001\u907a\u4f1d\u5b50\u767a\u73fe\u3092\u5236\u5fa1\u3059\u308b\u4ed5\u7d44\u307f\u304c\u5d29\u308c\u308b\u3053\u3068\u306b\u3042\u308a\u307e\u3059\u3002<\/strong>SATB2\u306f\u5358\u72ec\u306e\u300c\u75c7\u72b6\u3092\u8d77\u3053\u3059\u907a\u4f1d\u5b50\u300d\u3068\u3044\u3046\u3088\u308a\u3001\u591a\u304f\u306e\u907a\u4f1d\u5b50\u306e\u30b9\u30a4\u30c3\u30c1\u3092\u8abf\u6574\u3059\u308b\u53f8\u4ee4\u5854\u306e\u3088\u3046\u306a\u5f79\u5272\u3092\u62c5\u3063\u3066\u3044\u307e\u3059\u3002\u3044\u308f\u3070\u3001\u8133\u3068\u9aa8\u683c\u306e\u767a\u9054\u3092\u3064\u306a\u3050\u8abf\u6574\u5f79\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img loading=\"lazy\" decoding=\"async\" width=\"1024\" height=\"18\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/2q33.1-hgtIdeo_genome_asia_339299_953a0-1024x18.png\" alt=\"\u67d3\u8272\u4f532q33.1\u9818\u57df\u3068SATB2\u907a\u4f1d\u5b50\u306e\u4f4d\u7f6e\" class=\"wp-image-89580\"\/><\/figure><\/div>\n\n\n<p>\u8133\u3067\u306f\u3001SATB2\u306f\u5927\u8133\u76ae\u8cea\u306e\u795e\u7d4c\u7d30\u80de\u3069\u3046\u3057\u306e\u3064\u306a\u304c\u308a\u3092\u3064\u304f\u308b\u3046\u3048\u3067\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u307e\u3059\u3002\u3053\u306e\u6a5f\u80fd\u304c\u5931\u308f\u308c\u308b\u3068\u3001\u5b66\u7fd2\u3084\u8a18\u61b6\u306b\u95a2\u308f\u308b\u907a\u4f1d\u5b50\u7fa4\u306e\u767a\u73fe\u304c\u4e71\u308c\u3001\u767a\u9054\u306e\u9045\u308c\u3084\u8a00\u8a9e\u30fb\u4f1a\u8a71\u306e\u56f0\u96e3\u306b\u3064\u306a\u304c\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"640\" height=\"360\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/2781799_s.jpg\" alt=\"\u8133\u306e\u767a\u9054\u3092\u30a4\u30e1\u30fc\u30b8\u3057\u305f\u5199\u771f\" class=\"wp-image-88607\"\/><\/figure><\/div>\n\n\n<p>\u307e\u305f\u3001SATB2\u306f\u9aa8\u683c\u306e\u6210\u9577\u306b\u95a2\u308f\u308b\u907a\u4f1d\u5b50\u306e\u50cd\u304d\u3082\u8abf\u6574\u3057\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u6a5f\u80fd\u304c\u640d\u306a\u308f\u308c\u308b\u3053\u3068\u3067\u3001\u53e3\u84cb\u88c2\u3092\u306f\u3058\u3081\u3068\u3059\u308b\u9aa8\u5f62\u6210\u306e\u7570\u5e38\u304c\u8d77\u3053\u308a\u3084\u3059\u304f\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img loading=\"lazy\" decoding=\"async\" width=\"1024\" height=\"18\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/SATB2-hgtIdeo_genome_asia_34ce3a_ca8d0-1024x18.png\" alt=\"SATB2\u907a\u4f1d\u5b50\u306e\u6a21\u5f0f\u56f3\" class=\"wp-image-89585\"\/><\/figure><\/div>\n\n\n<p>2q33.1\u9818\u57df\u306b\u306f\u3001SATB2\u4ee5\u5916\u306bPGAP1\u30fbHSPD1\u30fbCASP10\u30fbTMEM237\u30fbALS2\u30fbBMPR2\u3068\u3044\u30466\u3064\u306e\u907a\u4f1d\u5b50\u3082\u5b58\u5728\u3057\u307e\u3059\u3002\u3053\u308c\u3089\u306f\u305d\u308c\u305e\u308c\u5225\u306e\u75c5\u6c17\uff08\u907a\u4f1d\u6027\u75d9\u6027\u5bfe\u9ebb\u75fa\u3001\u81ea\u5df1\u514d\u75ab\u30ea\u30f3\u30d1\u5897\u6b96\u75c7\u5019\u7fa4\u3001\u30b8\u30e7\u30fc\u30d9\u30fc\u30eb\u75c7\u5019\u7fa4\u3001ALS\u95a2\u9023\u75be\u60a3\u3001\u907a\u4f1d\u6027\u80ba\u52d5\u8108\u6027\u80ba\u9ad8\u8840\u5727\u75c7\uff09\u306b\u95a2\u9023\u3057\u3066\u304a\u308a\u3001\u6b20\u5931\u306e\u7bc4\u56f2\u304c\u5e83\u3044\u307b\u3069\u75c7\u72b6\u306e\u91cd\u306a\u308a\u3084\u91cd\u75c7\u5ea6\u304c\u5927\u304d\u304f\u306a\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002\u5e83\u7bc4\u56f2\u306a2q32.2-q33\u9818\u57df\u304c\u5f71\u97ff\u3092\u53d7\u3051\u308b\u30b0\u30e9\u30b9\u75c7\u5019\u7fa4\u3067\u75c7\u72b6\u306e\u5909\u52d5\u6027\u304c\u5927\u304d\u3044\u306e\u306f\u3001\u3053\u306e\u305f\u3081\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%B8%BB%E3%81%AA%E7%97%87%E7%8A%B6%EF%BD%9C%E7%99%BA%E9%81%94%E3%83%BB%E8%BA%AB%E4%BD%93%E7%9A%84%E7%89%B9%E5%BE%B4%E3%83%BB%E8%A1%8C%E5%8B%95%E3%81%AE%E7%89%B9%E6%80%A7\"><\/span>\u4e3b\u306a\u75c7\u72b6\uff5c\u767a\u9054\u30fb\u8eab\u4f53\u7684\u7279\u5fb4\u30fb\u884c\u52d5\u306e\u7279\u6027<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u75c7\u72b6\u306e\u4e2d\u5fc3\u306f\u767a\u9054\u306e\u9045\u308c\u3068<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3067\u3059\u304c\u3001\u8a00\u8a9e\u30fb\u904b\u52d5\u30fb\u9aa8\u683c\u30fb\u884c\u52d5\u306a\u3069\u8907\u6570\u306e\u9818\u57df\u306b\u5f71\u97ff\u304c\u53ca\u3076\u70b9\u304c\u7279\u5fb4\u3067\u3059\u3002<\/strong>\u7a0b\u5ea6\u306f\u8efd\u5ea6\u304b\u3089\u91cd\u5ea6\u307e\u3067\u5e45\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u4e2d\u7b49\u5ea6\u304b\u3089\u91cd\u5ea6\u306b\u5206\u985e\u3055\u308c\u308b\u65b9\u304c\u591a\u3044\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<figure class=\"wp-block-table\"><table>\n<thead><tr><th>\u9818\u57df<\/th><th>\u3042\u3089\u308f\u308c\u3084\u3059\u3044\u7279\u5fb4<\/th><\/tr><\/thead>\n<tbody>\n<tr><td>\u767a\u9054\u30fb\u77e5\u80fd<\/td><td>\u767a\u9054\u306e\u9045\u308c\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\uff08\u8efd\u5ea6\u301c\u91cd\u5ea6\u3001\u4e2d\u7b49\u5ea6\u301c\u91cd\u5ea6\u304c\u591a\u3044\uff09<\/td><\/tr>\n<tr><td>\u8a00\u8a9e<\/td><td>\u8a00\u8449\u3092\u8a71\u3059\u3053\u3068\u304c\u96e3\u3057\u3044\u3001\u8a9e\u5f59\u304c\u975e\u5e38\u306b\u9650\u3089\u308c\u308b\u3002\u30b8\u30a7\u30b9\u30c1\u30e3\u30fc\u3084\u624b\u8a71\u3001\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u6a5f\u5668\u3092\u4f7f\u3046\u3053\u3068\u3082\u591a\u3044<\/td><\/tr>\n<tr><td>\u904b\u52d5<\/td><td>\u6b69\u304d\u59cb\u3081\u306e\u9045\u308c\u306a\u3069\u3001\u904b\u52d5\u767a\u9054\u306e\u30de\u30a4\u30eb\u30b9\u30c8\u30fc\u30f3\u306e\u9045\u308c<\/td><\/tr>\n<tr><td>\u884c\u52d5\u30fb\u795e\u7d4c<\/td><td>\u81ea\u9589\u50be\u5411\u3001\u591a\u52d5\u3001\u885d\u52d5\u6027\u3001\u81ea\u50b7\u884c\u70ba\u3001\u4e0d\u5b89\u611f\u3001\u7761\u7720\u969c\u5bb3\u3001\u4f4e\u7b4b\u7dca\u5f35\u3002<strong>\u7d0420%\u306b\u767a\u4f5c<\/strong>\u304c\u307f\u3089\u308c\u308b<\/td><\/tr>\n<tr><td>\u9854\u30fb\u53e3\u8154<\/td><td>\u9577\u3044\u9854\u3001\u9ad8\u3044\u984d\u3001\u8584\u3044\u4e0a\u5507\u3001\u5c0f\u984e\u75c7\u3001\u53e3\u84cb\u88c2\u30fb\u9ad8\u53e3\u84cb\u3001\u6b6f\u306e\u7570\u5e38\uff08\u5f62\u30fb\u751f\u3048\u63c3\u3044\u30fb\u5bc6\u96c6\uff09<\/td><\/tr>\n<tr><td>\u9aa8\u683c\u30fb\u305d\u306e\u4ed6<\/td><td>\u810a\u67f1\u5074\u5f2f\u3001\u95a2\u7bc0\u306e\u5f1b\u7de9\u3001\u6307\u306e\u7d30\u9577\u3055\uff08\u30a2\u30e9\u30af\u30ed\u30c0\u30af\u30c1\u30ea\u30fc\uff09\u3001\u9aa8\u5bc6\u5ea6\u306e\u4f4e\u4e0b\u3001\u6210\u9577\u5236\u9650<\/td><\/tr>\n<\/tbody>\n<\/table><figcaption>SATB2\u95a2\u9023\u75c7\u5019\u7fa4\u3067\u307f\u3089\u308c\u308b\u4e3b\u306a\u75c7\u72b6\u306e\u4e00\u4f8b\u3002\u3059\u3079\u3066\u306e\u65b9\u306b\u540c\u3058\u3088\u3046\u306b\u73fe\u308c\u308b\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/figcaption><\/figure>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"640\" height=\"426\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/31295071_s-1.jpg\" alt=\"\u624b\u3092\u91cd\u306d\u308b\u89aa\u5b50\" class=\"wp-image-88946\"\/><\/figure><\/div>\n\n\n<p>\u305f\u3068\u3048\u3070\u3001\u4e73\u5150\u671f\u304b\u3089\u6442\u98df\u306e\u56f0\u96e3\u304c\u307f\u3089\u308c\u308b\u30b1\u30fc\u30b9\u3067\u306f\u3001\u5480\u56bc\u3084\u98f2\u307f\u8fbc\u307f\u304c\u7d9a\u3051\u3066\u96e3\u3057\u304f\u3001\u6442\u98df\u7642\u6cd5\u3084\u80c3\u763b\u30c1\u30e5\u30fc\u30d6\u306e\u88c5\u7740\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u4e00\u65b9\u3067\u3001\u5e78\u305b\u3067\u967d\u6c17\u306a\u6027\u683c\u304c\u76ee\u7acb\u3061\u3001\u5468\u56f2\u3068\u306e\u95a2\u308f\u308a\u3092\u697d\u3057\u3081\u308b\u304a\u5b50\u3055\u3093\u3082\u591a\u304f\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5fc3\u81d3\u3067\u306f\u7a00\u306b\u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d\u306a\u3069\u306e\u7570\u5e38\u304c\u3001\u7537\u6027\u3067\u306f\u505c\u7559\u7cbe\u5de3\u3084\u5c3f\u9053\u4e0b\u88c2\u3068\u3044\u3063\u305f\u6ccc\u5c3f\u751f\u6b96\u5668\u306e\u7570\u5e38\u304c\u4f34\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u75c7\u72b6\u306e\u7d44\u307f\u5408\u308f\u305b\u306f\u60a3\u8005\u3054\u3068\u306b\u7570\u306a\u308b\u305f\u3081\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/intellectual_disability\/\">\u77e5\u7684\u969c\u5bb3\u3068\u306f\uff1f\u539f\u56e0\u3084\u767a\u9054\u969c\u5bb3\u3068\u306e\u9055\u3044\u30fbNIPT\u3067\u308f\u304b\u308b\u3053\u3068\u3092\u89e3\u8aac<\/a>\u3057\u305f\u8a18\u4e8b\u3082\u3042\u308f\u305b\u3066\u3054\u89a7\u3044\u305f\u3060\u304f\u3068\u3001\u5168\u4f53\u50cf\u3092\u7406\u89e3\u3057\u3084\u3059\u304f\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%A8%BA%E6%96%AD%E3%81%AF%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AB%E8%A1%8C%E3%82%8F%E3%82%8C%E3%82%8B%E3%81%8B%EF%BD%9C%E8%87%A8%E5%BA%8A%E6%89%80%E8%A6%8B%E3%81%8B%E3%82%89%E9%81%BA%E4%BC%9D%E5%AD%A6%E7%9A%84%E6%A4%9C%E6%9F%BB%E3%81%BE%E3%81%A7\"><\/span>\u8a3a\u65ad\u306f\u3069\u306e\u3088\u3046\u306b\u884c\u308f\u308c\u308b\u304b\uff5c\u81e8\u5e8a\u6240\u898b\u304b\u3089\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u307e\u3067<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u78ba\u5b9a\u8a3a\u65ad\u306b\u306f\u3001\u67d3\u8272\u4f53<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u691c\u67fb\u3084\u907a\u4f1d\u5b50\u691c\u67fb\u306b\u3088\u3063\u3066SATB2\u907a\u4f1d\u5b50\u307e\u305f\u306f2q33.1\u9818\u57df\u306e\u5909\u5316\u3092\u78ba\u8a8d\u3059\u308b\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u3002<\/strong>\u9854\u7acb\u3061\u3084\u767a\u9054\u306e\u69d8\u5b50\u3060\u3051\u3067\u8a3a\u65ad\u304c\u78ba\u5b9a\u3059\u308b\u3053\u3068\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full is-resized\"><img loading=\"lazy\" decoding=\"async\" width=\"512\" height=\"500\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/chr2-MeCbWRTOXMcbAACKZIAAAYZY.png\" alt=\"2\u756a\u67d3\u8272\u4f53\u306e\u6a21\u5f0f\u56f3\" class=\"wp-image-89620\" style=\"width:512px;height:auto\"\/><\/figure><\/div>\n\n\n<p>\u51fa\u751f\u5f8c\u306f\u3001\u767a\u9054\u306e\u9045\u308c\u3084\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u3092\u304d\u3063\u304b\u3051\u306b\u5c0f\u5150\u79d1\u30fb\u81e8\u5e8a\u907a\u4f1d\u306e\u5c02\u9580\u533b\u304c\u8a55\u4fa1\u3092\u884c\u3044\u3001\u67d3\u8272\u4f53<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u691c\u67fb\uff08CMA\uff09\u3084\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u3067SATB2\u907a\u4f1d\u5b50\u306e\u5909\u7570\u30fb\u6b20\u5931\u3092\u78ba\u8a8d\u3059\u308b\u6d41\u308c\u304c\u4e00\u822c\u7684\u3067\u3059\u3002\u3088\u308a\u8a73\u3057\u3044\u907a\u4f1d\u5b66\u7684\u306a\u60c5\u5831\u306f\u3001\u5c02\u9580\u5bb6\u5411\u3051\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u3067\u3042\u308b<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK458647\/\" target=\"_blank\" rel=\"noopener\">GeneReviews\uff08SATB2-Associated Syndrome\uff09<\/a>\u3084<a href=\"https:\/\/www.orpha.net\/en\/disease\/detail\/251028\" target=\"_blank\" rel=\"noopener\">Orphanet<\/a>\u306b\u3082\u6574\u7406\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"640\" height=\"426\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/31048631_s-1.jpg\" alt=\"\u8a3a\u65ad\u306b\u3064\u3044\u3066\u8a71\u3057\u5408\u3046\u69d8\u5b50\" class=\"wp-image-88820\"\/><\/figure><\/div>\n\n\n<p>\u79c1\u81ea\u8eab\u3001NIPT\u306e\u73fe\u5834\u3067\u3054\u5bb6\u65cf\u304b\u3089\u300c\u598a\u5a20\u4e2d\u306b\u67d3\u8272\u4f53\u306e\u5909\u5316\u3092\u6307\u6458\u3055\u308c\u305f\u304c\u3001\u3053\u306e\u5148\u3069\u3046\u8a3a\u65ad\u304c\u9032\u3080\u306e\u304b\u5206\u304b\u3089\u306a\u3044\u300d\u3068\u3044\u3046\u3054\u76f8\u8ac7\u3092\u53d7\u3051\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u51fa\u751f\u524d\u306e\u6bb5\u968e\u3067\u5206\u304b\u308b\u3053\u3068\u3068\u3001\u51fa\u751f\u5f8c\u306e\u7cbe\u5bc6\u691c\u67fb\u3067\u521d\u3081\u3066\u5206\u304b\u308b\u3053\u3068\u306b\u306f\u9055\u3044\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u306e\u9055\u3044\u3092\u6b63\u78ba\u306b\u304a\u4f1d\u3048\u3059\u308b\u3053\u3068\u304c\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u5927\u5207\u306a\u5f79\u5272\u3060\u3068\u611f\u3058\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%87%BA%E7%94%9F%E5%89%8D%E3%81%AB%E3%82%8F%E3%81%8B%E3%82%8B%EF%BC%9FNIPT%E3%81%A82q331%E6%AC%A0%E5%A4%B1%E7%97%87%E5%80%99%E7%BE%A4%E3%81%AE%E9%96%A2%E4%BF%82\"><\/span>\u51fa\u751f\u524d\u306b\u308f\u304b\u308b\uff1fNIPT\u30682q33.1\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u95a2\u4fc2<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u6a19\u6e96\u7684\u306aNIPT\uff0821\u30fb18\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/patau-syndrome\/\">13\u30c8\u30ea\u30bd\u30df\u30fc<\/a>\u4e2d\u5fc3\u306e\u691c\u67fb\uff09\u3067\u306f\u30012q33.1\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u5bfe\u8c61\u306b\u542b\u307e\u308c\u307e\u305b\u3093\u3002<\/strong>\u3053\u306e\u75c5\u6c17\u3092\u691c\u51fa\u3059\u308b\u306b\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u30fb\u5fae\u5c0f\u91cd\u8907\u306b\u5bfe\u5fdc\u3057\u305f\u62e1\u5f35\u578b\u306eNIPT\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u306eNIPT\u306f<strong>143\u7a2e\u985e\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u30fb\u91cd\u8907\u75be\u60a3<\/strong>\u306b\u5bfe\u5fdc\u3057\u3066\u304a\u308a\u30012q33.1\u9818\u57df\u3092\u542b\u3080<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u3082\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u306e\u5bfe\u8c61\u3067\u3059\u3002\u305f\u3060\u3057\u3001NIPT\u306f\u3042\u304f\u307e\u3067\u975e\u78ba\u5b9a\u7684\u691c\u67fb\u3067\u3042\u308b\u70b9\u306b\u6ce8\u610f\u304c\u5fc5\u8981\u3067\u3059\u3002\u967d\u6027\u3068\u3044\u3046\u7d50\u679c\u304c\u51fa\u3066\u3082\u3001\u305d\u308c\u306f\u300c\u53ef\u80fd\u6027\u304c\u9ad8\u3044\u300d\u3053\u3068\u3092\u793a\u3059\u306b\u3068\u3069\u307e\u308a\u3001\u78ba\u5b9a\u8a3a\u65ad\u306b\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u304c\u5fc5\u8981\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u691c\u4f53\u306f<strong>\u6771\u4eac\u885b\u751f\u691c\u67fb\u6240\uff08\u56fd\u5185\uff09<\/strong>\u3067\u691c\u67fb\u3059\u308b\u305f\u3081\u3001\u6700\u77ed2\u301c5\u65e5\u3067\u7d50\u679c\u304c\u5c4a\u304d\u307e\u3059\u3002\u7d50\u679c\u3092\u65e9\u304f\u53d7\u3051\u53d6\u308c\u308b\u3053\u3068\u306f\u3001\u305d\u306e\u5f8c\u306e\u76f8\u8ac7\u3084\u691c\u67fb\u306e\u8a08\u753b\u3092\u7acb\u3066\u308b\u3046\u3048\u3067\u3082\u52a9\u3051\u306b\u306a\u308a\u307e\u3059\u3002\u67d3\u8272\u4f53\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u5168\u822c\u306b\u3064\u3044\u3066\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/xp22-31-microdeletion-syndrome\/\">Xp22.31\u5fae\u5c0f\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u306f\uff5cSTS\u907a\u4f1d\u5b50\u6b20\u5931\u3068NIPT\u3068\u306e\u95a2\u4fc2<\/a>\u306e\u8a18\u4e8b\u3067\u3082\u8a73\u3057\u304f\u89e3\u8aac\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"text-align:center;margin:28px 0;\"><a href=\"https:\/\/mypage-nipt-reservation.hiro-clinic.or.jp\/registration\" style=\"display:inline-block;padding:14px 30px;background:#e5397f;color:#fff;border-radius:8px;text-decoration:none;font-weight:bold;\" target=\"_blank\" rel=\"noopener\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30afNIPT\u3092\u4e88\u7d04\u3059\u308b<\/a><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"NIPT%E3%81%A7%E9%99%BD%E6%80%A7%E3%81%A0%E3%81%A3%E3%81%9F%E5%A0%B4%E5%90%88%E3%81%AE%E6%B5%81%E3%82%8C%EF%BD%9C%E7%BE%8A%E6%B0%B4%E6%A4%9C%E6%9F%BB%E3%81%AB%E3%82%88%E3%82%8B%E7%A2%BA%E5%AE%9A%E8%A8%BA%E6%96%AD%E3%81%A8%E8%B2%BB%E7%94%A8%E8%A3%9C%E5%8A%A9%E5%88%B6%E5%BA%A6\"><\/span>NIPT\u3067\u967d\u6027\u3060\u3063\u305f\u5834\u5408\u306e\u6d41\u308c\uff5c\u7f8a\u6c34\u691c\u67fb\u306b\u3088\u308b\u78ba\u5b9a\u8a3a\u65ad\u3068\u8cbb\u7528\u88dc\u52a9\u5236\u5ea6<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>NIPT\u3067\u967d\u6027\u5224\u5b9a\u304c\u51fa\u305f\u5834\u5408\u306f\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3092\u53d7\u3051\u305f\u3046\u3048\u3067\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u306b\u3088\u308b\u78ba\u5b9a\u8a3a\u65ad\u306b\u9032\u3080\u306e\u304c\u4e00\u822c\u7684\u306a\u6d41\u308c\u3067\u3059\u3002<\/strong>\u7d50\u679c\u3092\u805e\u3044\u305f\u76f4\u5f8c\u306f\u4e0d\u5b89\u304c\u5927\u304d\u304f\u306a\u308b\u3082\u306e\u3067\u3059\u304c\u3001\u6b21\u306b\u4f55\u3092\u3059\u3079\u304d\u304b\u3092\u9806\u3092\u8ffd\u3063\u3066\u6574\u7406\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u3067\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u306b\u304b\u304b\u308b\u8cbb\u7528\u306e\u8ca0\u62c5\u3092\u8efd\u304f\u3059\u308b\u305f\u3081\u306e\u88dc\u52a9\u5236\u5ea6\u3092\u7528\u610f\u3057\u3066\u3044\u307e\u3059\u3002\u30d7\u30e9\u30f3\u306b\u5fdc\u3058\u3066\u88dc\u52a9\u306e\u4e0a\u9650\u984d\u304c\u7570\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<figure class=\"wp-block-table\"><table>\n<thead><tr><th>\u30d7\u30e9\u30f3<\/th><th>\u8ffd\u52a0\u8cbb\u7528\uff08\u7a0e\u8fbc\uff09<\/th><th><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u8cbb\u7528\u306e\u88dc\u52a9\u4e0a\u9650<\/th><\/tr><\/thead>\n<tbody>\n<tr><td>\u30e9\u30a4\u30c8<\/td><td>3,300\u5186<\/td><td>\u6700\u592710\u4e07\u5186<\/td><\/tr>\n<tr><td>\u30b9\u30bf\u30f3\u30c0\u30fc\u30c9<\/td><td>5,500\u5186<\/td><td>\u6700\u592720\u4e07\u5186<\/td><\/tr>\n<tr><td>\u30ef\u30a4\u30c9<\/td><td>11,000\u5186<\/td><td>\u6700\u592730\u4e07\u5186<\/td><\/tr>\n<\/tbody>\n<\/table><figcaption><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u8cbb\u7528\u88dc\u52a9\u5236\u5ea6\u306e\u4e00\u4f8b\u3002\u91d1\u984d\u306f\u5909\u66f4\u3055\u308c\u308b\u5834\u5408\u304c\u3042\u308b\u305f\u3081\u3001\u6700\u65b0\u60c5\u5831\u306f\u4e88\u7d04\u6642\u306b\u3054\u78ba\u8a8d\u304f\u3060\u3055\u3044\u3002<\/figcaption><\/figure>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/28793493_s.jpg\" alt=\"\u5b50\u3069\u3082\u3092\u62b1\u3044\u3066\u3044\u308b\u5973\u6027\" class=\"wp-image-88004\"\/><\/figure><\/div>\n\n\n<p>\u79c1\u304c\u8a3a\u7642\u306e\u5834\u3067\u5fc3\u304c\u3051\u3066\u3044\u308b\u306e\u306f\u3001\u6570\u5024\u3084\u78ba\u7387\u306e\u8aac\u660e\u3060\u3051\u3067\u7d42\u308f\u3089\u305b\u306a\u3044\u3053\u3068\u3067\u3059\u3002\u300c\u967d\u6027\u3060\u3063\u305f\u5834\u5408\u306b\u3001\u6b21\u306b\u4f55\u3092\u3059\u308c\u3070\u3088\u3044\u304b\u300d\u307e\u3067\u5177\u4f53\u7684\u306b\u304a\u4f1d\u3048\u3059\u308b\u3053\u3068\u3067\u3001\u3054\u5bb6\u65cf\u304c\u843d\u3061\u7740\u3044\u3066\u6b21\u306e\u4e00\u6b69\u3092\u9078\u3079\u308b\u3088\u3046\u306b\u3057\u305f\u3044\u3068\u8003\u3048\u3066\u3044\u307e\u3059\u3002<strong>\u4e00\u4eba\u3067\u62b1\u3048\u8fbc\u307e\u305a\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u5834\u3067\u6c17\u6301\u3061\u3092\u8a00\u8449\u306b\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/strong><\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%B2%BB%E7%99%82%E3%83%BB%E7%AE%A1%E7%90%86%E6%96%B9%E6%B3%95%EF%BD%9C%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%B5%E3%83%9D%E3%83%BC%E3%83%88%E3%82%B1%E3%82%A2\"><\/span>\u6cbb\u7642\u30fb\u7ba1\u7406\u65b9\u6cd5\uff5c\u591a\u8077\u7a2e\u9023\u643a\u306b\u3088\u308b\u30b5\u30dd\u30fc\u30c8\u30b1\u30a2<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>SATB2\u95a2\u9023\u75c7\u5019\u7fa4\u3092\u6839\u672c\u7684\u306b\u6cbb\u3059\u6cbb\u7642\u6cd5\u306f\u73fe\u6642\u70b9\u3067\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u75c7\u72b6\u3054\u3068\u306e\u652f\u63f4\u3092\u7d44\u307f\u5408\u308f\u305b\u308b\u3053\u3068\u3067\u751f\u6d3b\u306e\u8cea\u3092\u9ad8\u3081\u3089\u308c\u307e\u3059\u3002<\/strong>\u8907\u6570\u306e\u8a3a\u7642\u79d1\u30fb\u7642\u6cd5\u58eb\u304c\u9023\u643a\u3059\u308b\u30c1\u30fc\u30e0\u533b\u7642\u304c\u4e2d\u5fc3\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u767a\u9054\u306e\u9045\u308c\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\uff1a\u65e9\u671f\u7642\u80b2\u3001\u8a00\u8a9e\u7642\u6cd5\u3001\u88dc\u52a9\u4ee3\u66ff\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\uff08AAC\uff09\u306e\u6d3b\u7528<\/li>\n<li>\u904b\u52d5\u9762\uff1a\u7406\u5b66\u7642\u6cd5\u30fb\u4f5c\u696d\u7642\u6cd5\u306b\u3088\u308b\u904b\u52d5\u30b9\u30ad\u30eb\u3068\u7b4b\u7dca\u5f35\u306e\u6539\u5584<\/li>\n<li>\u884c\u52d5\u9762\uff1a\u884c\u52d5\u7642\u6cd5\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u305f\u85ac\u7269\u7642\u6cd5\u306b\u3088\u308b\u591a\u52d5\u30fb\u4e0d\u5b89\u30fb\u81ea\u50b7\u884c\u70ba\u3078\u306e\u5bfe\u5fdc<\/li>\n<li>\u767a\u4f5c\u30fb\u8133\u6ce2\u7570\u5e38\uff1a\u6297\u3066\u3093\u304b\u3093\u85ac\u306e\u4f7f\u7528\u3068\u795e\u7d4c\u5b66\u7684\u8a55\u4fa1<\/li>\n<\/ul>\n\n\n\n<p>\u6442\u98df\u3084\u9854\u30fb\u53e3\u8154\u306e\u554f\u984c\u306b\u306f\u3001\u5916\u79d1\u7684\u6cbb\u7642\u3068\u6442\u98df\u7642\u6cd5\u3092\u3042\u308f\u305b\u3066\u5bfe\u5fdc\u3057\u307e\u3059\u3002\u9577\u5f15\u304f\u6442\u98df\u56f0\u96e3\u3067\u306f\u3001\u80c3\u763b\u30c1\u30e5\u30fc\u30d6\u306e\u88c5\u7740\u304c\u691c\u8a0e\u3055\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u9aa8\u306e\u5065\u5eb7\u3092\u5b88\u308b\u305f\u3081\u306b\u306f\u3001\u9069\u5207\u306a\u904b\u52d5\u3068\u30ab\u30eb\u30b7\u30a6\u30e0\u30fb\u30d3\u30bf\u30df\u30f3D\u306e\u6442\u53d6\u304c\u57fa\u672c\u306b\u306a\u308a\u3001\u91cd\u75c7\u4f8b\u3067\u306f\u85ac\u7269\u6cbb\u7642\u304c\u52a0\u308f\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5b9a\u671f\u7684\u306a\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0\u3082\u6b20\u304b\u305b\u307e\u305b\u3093\u3002\u6b6f\u79d1\u691c\u8a3a\u3001\u773c\u79d1\u691c\u67fb\u3001\u9aa8\u5bc6\u5ea6\u691c\u67fb\u3092\u8a08\u753b\u7684\u306b\u53d7\u3051\u3001\u5fc3\u81d3\u3084\u6ccc\u5c3f\u751f\u6b96\u5668\u306b\u5408\u4f75\u75c7\u304c\u3042\u308b\u5834\u5408\u306f\u5c02\u9580\u533b\u306b\u3088\u308b\u6cbb\u7642\u3092\u7d9a\u3051\u307e\u3059\u3002\u5c0f\u5150\u79d1\u533b\u3001\u795e\u7d4c\u79d1\u533b\u3001\u8a00\u8a9e\u7642\u6cd5\u58eb\u3001\u6574\u5f62\u5916\u79d1\u533b\u304c\u9023\u643a\u3059\u308b\u5305\u62ec\u7684\u306a\u30b1\u30a2\u4f53\u5236\u304c\u3001SAS\u306e\u7ba1\u7406\u306e\u571f\u53f0\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%B0%86%E6%9D%A5%E3%81%AE%E8%A6%8B%E9%80%9A%E3%81%97%EF%BC%88%E4%BA%88%E5%BE%8C%EF%BC%89\"><\/span>\u5c06\u6765\u306e\u898b\u901a\u3057\uff08\u4e88\u5f8c\uff09<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u4e88\u5f8c\u306f\u75c7\u72b6\u306e\u91cd\u75c7\u5ea6\u306b\u3088\u3063\u3066\u5927\u304d\u304f\u7570\u306a\u308a\u3001\u8efd\u5ea6\u306e\u75c7\u72b6\u3067\u751f\u6d3b\u3067\u304d\u308b\u65b9\u3082\u3044\u308c\u3070\u3001\u8907\u6570\u306e\u5408\u4f75\u75c7\u306b\u9577\u671f\u7684\u306a\u652f\u63f4\u304c\u5fc5\u8981\u306a\u65b9\u3082\u3044\u307e\u3059\u3002<\/strong>\u3053\u306e\u5e45\u306e\u5e83\u3055\u3053\u305d\u304c\u3001SATB2\u95a2\u9023\u75c7\u5019\u7fa4\u306e\u7279\u5fb4\u306e\u3072\u3068\u3064\u3067\u3059\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/24156031_s.jpg\" alt=\"\u5b50\u3069\u3082\u3068\u5411\u304d\u5408\u3046\u4fdd\u8b77\u8005\" class=\"wp-image-87708\"\/><\/figure><\/div>\n\n\n<p>\u8a3a\u65ad\u306f\u30b4\u30fc\u30eb\u3067\u306f\u306a\u304f\u3001\u652f\u63f4\u306e\u30b9\u30bf\u30fc\u30c8\u5730\u70b9\u3002\u5206\u5b50\u30ec\u30d9\u30eb\u3067\u306e\u7814\u7a76\u304c\u9032\u3080\u3053\u3068\u3067\u3001\u8a3a\u65ad\u3084\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3001\u60a3\u8005\u30b1\u30a2\u306e\u8cea\u306f\u7740\u5b9f\u306b\u5411\u4e0a\u3057\u3066\u3044\u307e\u3059\u3002\u8a8d\u77e5\u5ea6\u304c\u5e83\u304c\u308a\u3001\u652f\u63f4\u306e\u8f2a\u304c\u5e83\u304c\u308b\u3053\u3068\u304c\u3001\u3053\u306e\u7a00\u306a\u75be\u60a3\u3068\u3068\u3082\u306b\u6b69\u3080\u65b9\u3005\u306e\u751f\u6d3b\u306e\u8cea\u3092\u5e95\u4e0a\u3052\u3059\u308b\u3068\u8003\u3048\u3089\u308c\u307e\u3059\u3002\u4f3c\u305f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosomal-abnormality\/\">\u67d3\u8272\u4f53\u7570\u5e38<\/a>\u3067\u3042\u308b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/18q-deletion-syndrome\/\">18q\u6b20\u5931\u75c7\u5019\u7fa4<\/a>\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/xq28-deletion-syndrome\/\">\u67d3\u8272\u4f53Xq28\u6b20\u5931\u75c7\u5019\u7fa4<\/a>\u3067\u3082\u3001\u65e9\u671f\u304b\u3089\u306e\u591a\u8077\u7a2e\u9023\u643a\u30b1\u30a2\u304c\u751f\u6d3b\u306e\u8cea\u3092\u652f\u3048\u308b\u5171\u901a\u70b9\u3068\u3057\u3066\u6319\u3052\u3089\u308c\u307e\u3059\u3002<\/p>\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%EF%BD%9C%E4%BF%A1%E9%A0%BC%E3%81%A7%E3%81%8D%E3%82%8B%E6%83%85%E5%A0%B1%E6%BA%90\"><\/span>\u3082\u3063\u3068\u77e5\u308a\u305f\u3044\u65b9\u3078\uff5c\u4fe1\u983c\u3067\u304d\u308b\u60c5\u5831\u6e90<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u4e00\u6b21\u60c5\u5831\u3068\u3057\u3066\u3001\u533b\u5b66\u5c02\u9580\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u3068\u60a3\u8005\u30fb\u5bb6\u65cf\u5411\u3051\u30ea\u30bd\u30fc\u30b9\u306e\u4e21\u65b9\u3092\u78ba\u8a8d\u3057\u3066\u304a\u304f\u3068\u7406\u89e3\u304c\u6df1\u307e\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u3010\u533b\u5b66\u5c02\u9580\u30fb\u82f1\u8a9e\u3011<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK458647\/\" target=\"_blank\" rel=\"noopener\">GeneReviews\uff1aSATB2-Associated Syndrome<\/a><\/li>\n<li>\u3010\u533b\u5b66\u5c02\u9580\u30fb\u82f1\u8a9e\u3011<a href=\"https:\/\/www.orpha.net\/en\/disease\/detail\/251028\" target=\"_blank\" rel=\"noopener\">Orphanet\uff1aSATB2-associated syndrome due to a chromosomal rearrangement<\/a><\/li>\n<li>\u3010\u907a\u4f1d\u5b50\u60c5\u5831\u30fb\u82f1\u8a9e\u3011<a href=\"https:\/\/medlineplus.gov\/genetics\/gene\/satb2\/\" target=\"_blank\" rel=\"noopener\">MedlinePlus Genetics\uff1aSATB2\u907a\u4f1d\u5b50<\/a><\/li>\n<li>\u3010\u8c4a\u5bcc\u306a\u60c5\u5831\u30fb\u5199\u771f\u3042\u308a\u30fb\u82f1\u8a9e\u3011<a href=\"https:\/\/satb2-portal.broadinstitute.org\/\" target=\"_blank\" rel=\"noopener\">SATB2\u30dd\u30fc\u30bf\u30eb<\/a>-SAS\u306b\u95a2\u3059\u308b\u60c5\u5831\u30ea\u30bd\u30fc\u30b9<\/li>\n<li>\u3010\u5199\u771f\u3042\u308a\u30fb\u82f1\u8a9e\u3011\u30e6\u30cb\u30fc\u30af\uff08Unique\uff09\u306b\u3088\u308b<a href=\"https:\/\/rarechromo.org\/media\/information\/Chromosome%20%202\/SATB2%20syndrome%20FTNW.pdf\" target=\"_blank\" rel=\"noopener\">SATB2\u95a2\u9023\u75c7\u5019\u7fa4\uff08SAS\uff09\/\u30b0\u30e9\u30b9\u75c7\u5019\u7fa4\u306b\u95a2\u3059\u308b\u60c5\u5831\u30b7\u30fc\u30c8<\/a><\/li>\n<\/ul>\n\n\n\n<p>\u56fd\u5185\u3067\u306e\u76f8\u8ac7\u5148\u3092\u63a2\u3059\u969b\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/living-with-22q11-2-deletion-syndrome-support\/\">22q11.2\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u751f\u304d\u308b\uff5c\u5bb6\u65cf\u306e\u652f\u63f4\u5236\u5ea6\u3068\u76f8\u8ac7\u5148<\/a>\u306e\u8a18\u4e8b\u3082\u3001\u307e\u308c\u306a\u67d3\u8272\u4f53\u75be\u60a3\u3068\u5411\u304d\u5408\u3046\u3054\u5bb6\u65cf\u306e\u53c2\u8003\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%82%88%E3%81%8F%E3%81%82%E3%82%8B%E8%B3%AA%E5%95%8F%EF%BC%88FAQ%EF%BC%89\"><\/span>\u3088\u304f\u3042\u308b\u8cea\u554f\uff08FAQ\uff09<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q1_2q331%E6%AC%A0%E5%A4%B1%E7%97%87%E5%80%99%E7%BE%A4%E3%81%AF%E3%81%A9%E3%81%AE%E3%81%8F%E3%82%89%E3%81%84%E3%81%BE%E3%82%8C%E3%81%AA%E7%97%85%E6%B0%97%E3%81%A7%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span>Q1. 2q33.1\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u3069\u306e\u304f\u3089\u3044\u307e\u308c\u306a\u75c5\u6c17\u3067\u3059\u304b\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>A. \u4e16\u754c\u5168\u4f53\u3067\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u60a3\u8005\u6570\u306f1000\u4eba\u672a\u6e80\u3068\u63a8\u5b9a\u3055\u308c\u308b\u3001\u975e\u5e38\u306b\u307e\u308c\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002\u8a8d\u77e5\u5ea6\u306f\u9ad8\u304f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u539f\u56e0\u907a\u4f1d\u5b50\u3067\u3042\u308bSATB2\u306e\u50cd\u304d\u306f\u7814\u7a76\u304c\u9032\u3093\u3067\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q2_NIPT%E3%81%A72q331%E6%AC%A0%E5%A4%B1%E7%97%87%E5%80%99%E7%BE%A4%E3%81%AF%E3%82%8F%E3%81%8B%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span>Q2. NIPT\u30672q33.1\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u308f\u304b\u308a\u307e\u3059\u304b\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>A. \u6a19\u6e96\u7684\u306aNIPT\u3067\u306f\u5bfe\u8c61\u5916\u3067\u3059\u304c\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u30fb\u91cd\u8907\u306b\u5bfe\u5fdc\u3057\u305f\u62e1\u5f35\u578b\u306eNIPT\u3067\u3042\u308c\u3070\u30012q33.1\u9818\u57df\u3092\u542b\u3081\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3067\u304d\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002NIPT\u306f\u975e\u78ba\u5b9a\u7684\u691c\u67fb\u306e\u305f\u3081\u3001\u967d\u6027\u3067\u3082\u78ba\u5b9a\u8a3a\u65ad\u306b\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q3_%E5%A6%8A%E5%A8%A0%E4%B8%AD%E3%81%AE%E7%BE%8A%E6%B0%B4%E6%A4%9C%E6%9F%BB%E3%81%AF%E5%BF%85%E3%81%9A%E5%BF%85%E8%A6%81%E3%81%A7%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span>Q3. \u598a\u5a20\u4e2d\u306e\u7f8a\u6c34\u691c\u67fb\u306f\u5fc5\u305a\u5fc5\u8981\u3067\u3059\u304b\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>A. NIPT\u304c\u967d\u6027\u3068\u306a\u3063\u305f\u5834\u5408\u3001\u78ba\u5b9a\u8a3a\u65ad\u306e\u305f\u3081\u306b\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u306a\u3069\u306e\u4fb5\u8972\u7684\u691c\u67fb\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002\u53d7\u3051\u308b\u304b\u3069\u3046\u304b\u306f\u3054\u672c\u4eba\u30fb\u3054\u5bb6\u65cf\u306e\u5224\u65ad\u3067\u3059\u304c\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u691c\u67fb\u306e\u610f\u5473\u3092\u7406\u89e3\u3057\u305f\u3046\u3048\u3067\u6c7a\u3081\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q4_%E5%AD%90%E3%81%A9%E3%82%82%E3%81%AE%E7%9F%A5%E7%9A%84%E9%9A%9C%E5%AE%B3%E3%81%AE%E7%A8%8B%E5%BA%A6%E3%81%AF%E3%81%A9%E3%82%8C%E3%81%8F%E3%82%89%E3%81%84%E3%81%AB%E3%81%AA%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span>Q4. \u5b50\u3069\u3082\u306e\u77e5\u7684\u969c\u5bb3\u306e\u7a0b\u5ea6\u306f\u3069\u308c\u304f\u3089\u3044\u306b\u306a\u308a\u307e\u3059\u304b\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>A. \u8efd\u5ea6\u304b\u3089\u91cd\u5ea6\u307e\u3067\u5e45\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u4e2d\u7b49\u5ea6\u304b\u3089\u91cd\u5ea6\u306b\u5206\u985e\u3055\u308c\u308b\u65b9\u304c\u591a\u3044\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u8a00\u8a9e\u9762\u3078\u306e\u5f71\u97ff\u304c\u7279\u306b\u5927\u304d\u304f\u3001\u88dc\u52a9\u4ee3\u66ff\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u3092\u6d3b\u7528\u3059\u308b\u30b1\u30fc\u30b9\u3082\u3042\u308a\u307e\u3059\u3002\u7a0b\u5ea6\u306f\u6b20\u5931\u306e\u7bc4\u56f2\u3084\u500b\u4eba\u5dee\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q5_%E6%B2%BB%E7%99%82%E6%B3%95%E3%81%AF%E3%81%82%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span>Q5. \u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u3059\u304b\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>A. \u6839\u672c\u7684\u306b\u6cbb\u3059\u6cbb\u7642\u6cd5\u306f\u73fe\u6642\u70b9\u3067\u3042\u308a\u307e\u305b\u3093\u3002\u8a00\u8a9e\u7642\u6cd5\u3001\u7406\u5b66\u7642\u6cd5\u3001\u884c\u52d5\u7642\u6cd5\u3001\u5916\u79d1\u7684\u6cbb\u7642\u3001\u6297\u3066\u3093\u304b\u3093\u85ac\u306a\u3069\u3001\u75c7\u72b6\u3054\u3068\u306e\u652f\u63f4\u3092\u7d44\u307f\u5408\u308f\u305b\u308b\u30b5\u30dd\u30fc\u30c8\u30b1\u30a2\u304c\u4e2d\u5fc3\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q6_%E7%9B%B8%E8%AB%87%E3%81%A7%E3%81%8D%E3%82%8B%E7%AA%93%E5%8F%A3%E3%81%AF%E3%81%82%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span>Q6. \u76f8\u8ac7\u3067\u304d\u308b\u7a93\u53e3\u306f\u3042\u308a\u307e\u3059\u304b\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>A. \u6975\u3081\u3066\u307e\u308c\u306a\u75be\u60a3\u306e\u305f\u3081\u3001\u56fd\u5185\u306e\u60a3\u8005\u4f1a\u306f\u9650\u3089\u308c\u307e\u3059\u304c\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3092\u901a\u3058\u3066\u533b\u7642\u6a5f\u95a2\u306b\u76f8\u8ac7\u3067\u304d\u307e\u3059\u3002\u6d77\u5916\u306e\u60c5\u5831\u30ea\u30bd\u30fc\u30b9\u3068\u3057\u3066SATB2\u30dd\u30fc\u30bf\u30eb\u3084\u30e6\u30cb\u30fc\u30af\uff08Unique\uff09\u306e\u60c5\u5831\u30b7\u30fc\u30c8\u3082\u53c2\u8003\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%BE%E3%81%A8%E3%82%81\"><\/span>\u307e\u3068\u3081<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>2q33.1\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u3001SATB2\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u306b\u3088\u3063\u3066\u767a\u9054\u30fb\u8a00\u8a9e\u30fb\u9aa8\u683c\u306b\u5e45\u5e83\u3044\u5f71\u97ff\u304c\u53ca\u3076\u3001\u975e\u5e38\u306b\u307e\u308c\u306a\u75be\u60a3\u3067\u3059\u3002<\/strong>\u75c7\u72b6\u306e\u7a0b\u5ea6\u306f\u4e00\u4eba\u3072\u3068\u308a\u7570\u306a\u308b\u304b\u3089\u3053\u305d\u3001\u65e9\u671f\u306e\u8a3a\u65ad\u3068\u591a\u8077\u7a2e\u9023\u643a\u306b\u3088\u308b\u30b1\u30a2\u304c\u529b\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u51fa\u751f\u524d\u306e\u691c\u67fb\u7d50\u679c\u3092\u53d7\u3051\u53d6\u3063\u3066\u4e0d\u5b89\u3092\u611f\u3058\u3066\u3044\u308b\u65b9\u3082\u3001\u3053\u308c\u304b\u3089\u691c\u67fb\u3092\u691c\u8a0e\u3057\u3066\u3044\u308b\u65b9\u3082\u3001\u307e\u305a\u306f\u6b63\u78ba\u306a\u60c5\u5831\u306b\u3075\u308c\u308b\u3053\u3068\u304b\u3089\u59cb\u3081\u3066\u304f\u3060\u3055\u3044\u3002<strong>\u4e00\u4eba\u3067\u62b1\u3048\u8fbc\u3080\u5fc5\u8981\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/strong>\u5927\u5207\u306a\u306e\u306f\u3001\u6b63\u3057\u3044\u60c5\u5831\u3068\u3068\u3082\u306b\u6b69\u3080\u6b21\u306e\u4e00\u6b69\u3002\u6c17\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308c\u3070\u3001\u3069\u3046\u305e\u304a\u6c17\u8efd\u306b\u3054\u76f8\u8ac7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<div class=\"wp-block-buttons\" style=\"display:flex;justify-content:center;margin:2em 0;\"><div class=\"wp-block-button\"><a class=\"wp-block-button__link\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/line-registration\/\" style=\"display:inline-block;background:#06c755;color:#fff;font-weight:700;padding:14px 34px;border-radius:8px;text-decoration:none;\">\u307e\u305a\u306fLINE\u3067\u7121\u6599\u76f8\u8ac7\uff08\u901a\u8a71\u7121\u6599 0120-169-629\uff09<\/a><\/div><\/div>\n\n\n\n<div style=\"border:1px solid #ccc;border-radius:8px;padding:16px 20px;margin:28px 0;background:#f8f8f8;\">\n<p style=\"font-weight:bold;margin:0 0 6px;\">\u76e3\u4fee\u8005<\/p>\n<p style=\"margin:0;\">\u5ca1 \u535a\u53f2\uff08\u304a\u304b \u3072\u308d\u3057\uff09\uff0f\u533b\u7642\u6cd5\u4eba\u793e\u56e3\u798f\u7f8e\u4f1a \u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af \u7d71\u62ec\u9662\u9577\u30fbLabo Director\uff08\u30e9\u30dc\u30c7\u30a3\u30ec\u30af\u30bf\u30fc\uff09\u3002\u6176\u61c9\u7fa9\u587e\u5927\u5b66\u533b\u5b66\u90e8\u5352\u696d\u5f8c\u3001\u65e5\u672c\u3068\u30a2\u30e1\u30ea\u30ab\u306e\u533b\u5e2b\u56fd\u5bb6\u8a66\u9a13\u306b\u5408\u683c\u3002\u65e5\u672c\u306b\u7d0420\u4eba\u307b\u3069\u3057\u304b\u3044\u306a\u3044\u30e9\u30dc\u30c7\u30a3\u30ec\u30af\u30bf\u30fc\u8cc7\u683c\u3092\u4fdd\u6709\u3057\u3066\u3044\u307e\u3059\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/obgyn\/\">\u7523\u5a66\u4eba\u79d1<\/a>\u30fb\u5c0f\u5150\u79d1\u30fb\u81e8\u5e8a\u907a\u4f1d\u306e\u5c02\u9580\u533b\u3068\u9023\u643a\u3057\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3092\u91cd\u8996\u3057\u305f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u3092\u63d0\u4f9b\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n<\/div>\n\n\n\n<p style=\"font-size:0.9em;color:#666;\">\u203b\u672c\u8a18\u4e8b\u306f\u4e00\u822c\u7684\u306a\u533b\u5b66\u60c5\u5831\u306e\u63d0\u4f9b\u3092\u76ee\u7684\u3068\u3057\u3066\u3044\u307e\u3059\u3002\u8a3a\u65ad\u3084\u500b\u5225\u306e\u3054\u76f8\u8ac7\u306f\u3001\u5fc5\u305a\u533b\u7642\u6a5f\u95a2\u3092\u53d7\u8a3a\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\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\/10.1016\/j.molcel.2023.12.024\">Wahl, N., Espeso-Gil, S., Chietera, P., Nagel, A., Laighneach, A., Morris, D. W., Rajarajan, P., Akbarian, S., Dechant, G., &amp; Apostolova, G. (2024). SATB2 organizes the 3D genome architecture of cognition in cortical neurons. <em>Molecular Cell<\/em>, <em>84<\/em>(4), 621-639.e9. https:\/\/doi.org\/10.1016\/j.molcel.2023.12.024<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1038\/s41467-021-26234-7\">Pradhan, S. J., Reddy, P. C., Smutny, M., Sharma, A., Sako, K., Oak, M. S., Shah, R., Pal, M., Deshpande, O., Dsilva, G., Tang, Y., Mishra, R., Deshpande, G., Giraldez, A. J., Sonawane, M., Heisenberg, C. P., &amp; Galande, S. (2021). Satb2 acts as a gatekeeper for major developmental transitions during early vertebrate embryogenesis. <em>Nature communications<\/em>, <em>12<\/em>(1), 6094. https:\/\/doi.org\/10.1038\/s41467-021-26234-7<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.braindev.2024.06.003\">Shimojima Yamamoto, K., Shimomura, R., Shoji, H., &amp; Yamamoto, T. (2024). Glass syndrome derived from chromosomal breakage downstream region of SATB2. <em>Brain and Development<\/em>, <em>46<\/em>(9), 281\u2013285. https:\/\/doi.org\/10.1016\/j.braindev.2024.06.003<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1136\/jmg.2010.084491\">Balasubramanian, M., Smith, K., Basel-Vanagaite, L., Feingold, M. F., Brock, P., Gowans, G. C., Vasudevan, P. C., Cresswell, L., Taylor, E. J., Harris, C. J., Friedman, N., Moran, R., Feret, H., Zackai, E. H., Theisen, A., Rosenfeld, J. A., &amp; Parker, M. J. (2011). Case series: 2q33.1 microdeletion syndrome&#8211;further delineation of the phenotype. <em>Journal of Medical Genetics<\/em>, <em>48<\/em>(5), 290\u2013298. https:\/\/doi.org\/10.1136\/jmg.2010.084491<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.ejmg.2005.05.005\">Van Buggenhout, G., Van Ravenswaaij-Arts, C., Mc Maas, N., Thoelen, R., Vogels, A., Smeets, D., Salden, I., Matthijs, G., Fryns, J.-P., &amp; Vermeesch, J. R. (2005). The del(2)(Q32. 2q33) deletion syndrome defined by clinical and molecular characterization of four patients. <em>European Journal of Medical Genetics<\/em>, <em>48<\/em>(3), 276\u2013289. https:\/\/doi.org\/10.1016\/j.ejmg.2005.05.005<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1371\/journal.pone.0006568\">Rosenfeld, J. A., Ballif, B. C., Lucas, A., Spence, E. J., Powell, C., Aylsworth, A. S., Torchia, B. A., &amp; Shaffer, L. G. (2009). Small deletions of SATB2 cause some of the clinical features of the 2q33.1 microdeletion syndrome. <em>PloS one<\/em>, <em>4<\/em>(8), e6568. https:\/\/doi.org\/10.1371\/journal.pone.0006568<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK458647\/\">Zarate YA, Bosanko K, Fish J. SATB2-Associated Syndrome. 2017 Oct 12 [Updated 2024 Jun 20]. 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\/NBK458647\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.orpha.net\/en\/disease\/detail\/251028\">Orphanet. <em>SATB2-associated syndrome due to a chromosomal rearrangement.<\/em> Retrieved from https:\/\/www.orpha.net\/en\/disease\/detail\/251028<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/medlineplus.gov\/genetics\/gene\/satb2\/\">MedlinePlus Genetics. <em>SATB2 gene.<\/em> National Library of Medicine. Retrieved from https:\/\/medlineplus.gov\/genetics\/gene\/satb2\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/omim.org\/entry\/612313\">Online Mendelian Inheritance in Man. (Last updated August 2023 by Hilary J. Vernon). Retreived from https:\/\/omim.org\/entry\/612313<\/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<\/ul>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<a href=\"https:\/\/mypage-nipt-reservation.hiro-clinic.or.jp\/registration\" target=\"_blank\" rel=\"noopener\"><\/p>\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><\/a>\n<\/div>\n<\/div>\n\n\n\n<script 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