{"id":122422,"date":"2026-01-13T15:45:56","date_gmt":"2026-01-13T06:45:56","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=122422"},"modified":"2026-03-31T16:53:40","modified_gmt":"2026-03-31T07:53:40","slug":"saethre-chotzen-syndrome-eyelid-anomalies-guide","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/saethre-chotzen-syndrome-eyelid-anomalies-guide\/","title":{"rendered":"\u773c\u77bc\u7570\u5e38\u3092\u4f34\u3046\u3001\u307e\u305f\u306f\u4f34\u308f\u306a\u3044\u30bb\u30fc\u30ec\u30fb\u30b7\u30a7\u30fc\u30bc\u30f3\u75c7\u5019\u7fa4"},"content":{"rendered":"\n<p>\u304a\u5b50\u69d8\u3084\u3054\u81ea\u8eab\u304c\u300c\u773c\u77bc\u7570\u5e38\u3092\u4f34\u3046\u3001\u307e\u305f\u306f\u4f34\u308f\u306a\u3044\u30bb\u30fc\u30ec\u30fb\u30b7\u30a7\u30fc\u30bc\u30f3\u75c7\u5019\u7fa4\uff08Saethre-Chotzen syndrome with or without eyelid anomalies\uff09\u300d\u3068\u3044\u3046\u8a3a\u65ad\u3092\u53d7\u3051\u305f\u3068\u304d\u3001\u305d\u306e\u9577\u304f\u8907\u96d1\u306a\u75c5\u540d\u306b\u3001\u6238\u60d1\u3044\u3092\u611f\u3058\u3089\u308c\u305f\u3053\u3068\u3067\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<p>\u5358\u306b\u300c\u30bb\u30fc\u30ec\u30fb\u30b7\u30a7\u30fc\u30bc\u30f3\u75c7\u5019\u7fa4\u300d\u3068\u547c\u3070\u308c\u308b\u3053\u3068\u3082\u3042\u308c\u3070\u3001\u3053\u306e\u3088\u3046\u306b\u9577\u3044\u540d\u524d\u3067\u8aac\u660e\u3055\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u307e\u305f\u3001\u4f3c\u305f\u3088\u3046\u306a\u7279\u5fb4\u3092\u6301\u3064\u300c\u30ed\u30d3\u30ce\u30a6\u30fb\u30bd\u30e9\u30a6\u30d5\u75c7\u5019\u7fa4\uff08Robinow-Sorauf syndrome\uff09\u300d\u3068\u3044\u3046\u540d\u524d\u3092\u805e\u3044\u305f\u3053\u3068\u304c\u3042\u308b\u65b9\u3082\u3044\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75c5\u540d\u306f\u3001\u3053\u306e\u75c5\u6c17\u304c\u6301\u3064\u300c\u591a\u69d8\u6027\uff08\u4eba\u306b\u3088\u3063\u3066\u75c7\u72b6\u306e\u51fa\u65b9\u304c\u5168\u7136\u9055\u3046\u3053\u3068\uff09\u300d\u3092\u975e\u5e38\u306b\u3088\u304f\u8868\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3042\u308b\u60a3\u8005\u3055\u3093\u306b\u306f\u3001\u7279\u5fb4\u7684\u306a\u307e\u3076\u305f\u306e\u4e0b\u304c\u308a\uff08\u773c\u77bc\u4e0b\u5782\uff09\u304c\u306f\u3063\u304d\u308a\u3068\u898b\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u5225\u306e\u60a3\u8005\u3055\u3093\uff08\u6642\u306b\u306f\u540c\u3058\u5bb6\u65cf\u306e\u4e2d\u3067\u3042\u3063\u3066\u3082\uff09\u306b\u306f\u3001\u307e\u3076\u305f\u306e\u75c7\u72b6\u304c\u5168\u304f\u306a\u304f\u3001\u982d\u306e\u5f62\u306e\u7279\u5fb4\u3060\u3051\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u3088\u3046\u306b\u75c7\u72b6\u306e\u5e45\u304c\u5e83\u3044\u305f\u3081\u3001\u8a3a\u65ad\u3055\u308c\u308b\u307e\u3067\u306b\u6642\u9593\u304c\u304b\u304b\u3063\u305f\u308a\u3001\u300c\u672c\u5f53\u306b\u3053\u306e\u75c5\u6c17\u306a\u306e\u3060\u308d\u3046\u304b\uff1f\u300d\u3068\u4e0d\u5b89\u306b\u306a\u3063\u305f\u308a\u3059\u308b\u3053\u3068\u3082\u5c11\u306a\u304f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u539f\u56e0\u3068\u306a\u308b\u907a\u4f1d\u5b50\u306f\u7279\u5b9a\u3055\u308c\u3066\u304a\u308a\u3001\u6cbb\u7642\u3084\u7ba1\u7406\u306e\u65b9\u6cd5\u3082\u3057\u3063\u304b\u308a\u3068\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n<!--nipt_mono-->\r\n<div 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/saethre-chotzen-syndrome-eyelid-anomalies-guide\/#1_%E8%BA%AB%E4%BD%93%E8%A8%BA%E5%AF%9F\" >1. \u8eab\u4f53\u8a3a\u5bdf<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/saethre-chotzen-syndrome-eyelid-anomalies-guide\/#2_%E9%A0%AD%E9%83%A83D-CT%EF%BC%88%E6%9C%80%E3%82%82%E9%87%8D%E8%A6%81%E3%81%AA%E6%A4%9C%E6%9F%BB%EF%BC%89\" >2. \u982d\u90e83D-CT\uff08\u6700\u3082\u91cd\u8981\u306a\u691c\u67fb\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-18\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/saethre-chotzen-syndrome-eyelid-anomalies-guide\/#3_%E7%9C%BC%E7%A7%91%E6%A4%9C%E6%9F%BB\" >3. \u773c\u79d1\u691c\u67fb<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-19\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/saethre-chotzen-syndrome-eyelid-anomalies-guide\/#4_%E9%81%BA%E4%BC%9D%E5%AD%A6%E7%9A%84%E6%A4%9C%E6%9F%BB\" >4. \u907a\u4f1d\u5b66\u7684\u691c\u67fb<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-20\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/saethre-chotzen-syndrome-eyelid-anomalies-guide\/#%E6%B2%BB%E7%99%82%E3%81%A8%E7%AE%A1%E7%90%86%EF%BC%9A%E3%81%93%E3%82%8C%E3%81%8B%E3%82%89%E3%81%AE%E3%83%AD%E3%83%BC%E3%83%89%E3%83%9E%E3%83%83%E3%83%97\" >\u6cbb\u7642\u3068\u7ba1\u7406\uff1a\u3053\u308c\u304b\u3089\u306e\u30ed\u30fc\u30c9\u30de\u30c3\u30d7<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-21\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/saethre-chotzen-syndrome-eyelid-anomalies-guide\/#1_%E9%A0%AD%E8%93%8B%E5%BD%A2%E6%88%90%E6%89%8B%E8%A1%93%EF%BC%88%E8%84%B3%E5%A4%96%E7%A7%91%E3%83%BB%E5%BD%A2%E6%88%90%E5%A4%96%E7%A7%91%EF%BC%89\" >1. \u982d\u84cb\u5f62\u6210\u624b\u8853\uff08\u8133\u5916\u79d1\u30fb\u5f62\u6210\u5916\u79d1\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-22\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/saethre-chotzen-syndrome-eyelid-anomalies-guide\/#2_%E7%9C%BC%E3%81%AE%E6%89%8B%E8%A1%93\" >2. \u773c\u306e\u624b\u8853<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-23\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/saethre-chotzen-syndrome-eyelid-anomalies-guide\/#3_%E6%89%8B%E8%B6%B3%E3%81%AE%E6%89%8B%E8%A1%93\" >3. \u624b\u8db3\u306e\u624b\u8853<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-24\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/saethre-chotzen-syndrome-eyelid-anomalies-guide\/#4_%E7%99%BA%E9%81%94%E3%83%BB%E7%99%82%E8%82%B2%E3%82%B5%E3%83%9D%E3%83%BC%E3%83%88\" >4. \u767a\u9054\u30fb\u7642\u80b2\u30b5\u30dd\u30fc\u30c8<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-25\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/saethre-chotzen-syndrome-eyelid-anomalies-guide\/#%E4%BA%88%E5%BE%8C%E3%81%A8%E7%94%9F%E6%B4%BB%E3%81%AB%E3%81%A4%E3%81%84%E3%81%A6\" >\u4e88\u5f8c\u3068\u751f\u6d3b\u306b\u3064\u3044\u3066<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-26\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/saethre-chotzen-syndrome-eyelid-anomalies-guide\/#%E3%82%88%E3%81%8F%E3%81%82%E3%82%8B%E8%B3%AA%E5%95%8F%EF%BC%88FAQ%EF%BC%89\" >\u3088\u304f\u3042\u308b\u8cea\u554f\uff08FAQ\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-27\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/saethre-chotzen-syndrome-eyelid-anomalies-guide\/#%E3%81%BE%E3%81%A8%E3%82%81\" >\u307e\u3068\u3081<\/a><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%A6%82%E8%A6%81%EF%BC%9A%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E7%97%85%E6%B0%97%E3%81%8B\"><\/span><strong>\u6982\u8981\uff1a\u3069\u306e\u3088\u3046\u306a\u75c5\u6c17\u304b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306f\u3001\u751f\u307e\u308c\u3064\u304d\u982d\u306e\u9aa8\u3084\u9854\u3001\u624b\u8db3\u306e\u5f62\u6210\u306b\u7279\u5fb4\u304c\u73fe\u308c\u308b\u907a\u4f1d\u6027\u306e\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u533b\u5b66\u7684\u306b\u306f\u3001\u300c\u982d\u84cb\u9aa8\u7e2b\u5408\u65e9\u671f\u7652\u5408\u75c7\uff08\u305a\u304c\u3044\u3053\u3064\u307b\u3046\u3054\u3046\u305d\u3046\u304d\u3086\u3054\u3046\u3057\u3087\u3046\uff09\u300d\u3092\u4f34\u3046\u75c7\u5019\u7fa4\u306e\u4e00\u3064\u3068\u3057\u3066\u5206\u985e\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%97%85%E5%90%8D%E3%81%AE%E6%84%8F%E5%91%B3%E3%82%92%E8%A7%A3%E3%81%8D%E3%81%BB%E3%81%90%E3%81%99\"><\/span><strong>\u75c5\u540d\u306e\u610f\u5473\u3092\u89e3\u304d\u307b\u3050\u3059<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u307e\u305a\u3001\u3053\u306e\u9577\u3044\u75c5\u540d\u3092\u5206\u89e3\u3057\u3066\u7406\u89e3\u3057\u307e\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<p>\u30bb\u30fc\u30ec\u30fb\u30b7\u30a7\u30fc\u30bc\u30f3\u75c7\u5019\u7fa4<\/p>\n\n\n\n<p>1930\u5e74\u4ee3\u306b\u3053\u306e\u75c5\u6c17\u3092\u5831\u544a\u3057\u305f\u4e8c\u4eba\u306e\u533b\u5e2b\u306e\u540d\u524d\u3067\u3059\u3002\u982d\u306e\u5f62\u306e\u7279\u5fb4\u3001\u9854\u306e\u975e\u5bfe\u79f0\u3001\u6307\u306e\u7279\u5fb4\u306a\u3069\u304c\u898b\u3089\u308c\u308b\u75c5\u6c17\u306e\u30b0\u30eb\u30fc\u30d7\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u773c\u77bc\u7570\u5e38\u3092\u4f34\u3046\uff08with eyelid anomalies\uff09<\/p>\n\n\n\n<p>\u3053\u306e\u75c7\u5019\u7fa4\u306e\u6700\u3082\u4ee3\u8868\u7684\u306a\u7279\u5fb4\u306e\u4e00\u3064\u304c\u3001\u300c\u773c\u77bc\u4e0b\u5782\uff08\u304c\u3093\u3051\u3093\u304b\u3059\u3044\uff09\u300d\u3068\u547c\u3070\u308c\u308b\u3001\u307e\u3076\u305f\u304c\u4e0b\u304c\u3063\u3066\u3044\u308b\u72b6\u614b\u3067\u3059\u3002\u591a\u304f\u306e\u60a3\u8005\u3055\u3093\u306b\u898b\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u306f\u4f34\u308f\u306a\u3044\uff08or without eyelid anomalies\uff09<\/p>\n\n\n\n<p>\u3053\u3053\u304c\u91cd\u8981\u306a\u30dd\u30a4\u30f3\u30c8\u3067\u3059\u3002\u907a\u4f1d\u5b50\u691c\u67fb\u306e\u7d50\u679c\u3001\u78ba\u304b\u306b\u540c\u3058\u539f\u56e0\uff08TWIST1\u907a\u4f1d\u5b50\u306e\u5909\u7570\uff09\u3092\u6301\u3063\u3066\u3044\u308b\u306b\u3082\u304b\u304b\u308f\u3089\u305a\u3001\u307e\u3076\u305f\u306b\u306f\u5168\u304f\u7570\u5e38\u304c\u306a\u3044\u60a3\u8005\u3055\u3093\u3082\u5b58\u5728\u3057\u307e\u3059\u3002\u304b\u3064\u3066\u306f\u5225\u306e\u75c5\u6c17\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u305f\u3053\u3068\u3082\u3042\u308a\u307e\u3057\u305f\u304c\u3001\u73fe\u5728\u306f\u300c\u540c\u3058\u907a\u4f1d\u5b50\u306e\u5909\u5316\u306b\u3088\u308b\u3001\u75c7\u72b6\u306e\u30d0\u30ea\u30a8\u30fc\u30b7\u30e7\u30f3\u306e\u4e00\u3064\u300d\u3068\u3057\u3066\u7406\u89e3\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"TWIST1%E9%96%A2%E9%80%A3%E7%96%BE%E6%82%A3%E3%81%A8%E3%81%84%E3%81%86%E8%80%83%E3%81%88%E6%96%B9\"><\/span><strong>TWIST1\u95a2\u9023\u75be\u60a3\u3068\u3044\u3046\u8003\u3048\u65b9<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u73fe\u5728\u3001\u533b\u5b66\u306e\u4e16\u754c\u3067\u306f\u3001\u3053\u308c\u3089\u306e\u75c7\u72b6\u3092\u307e\u3068\u3081\u3066\u300cTWIST1\uff08\u30c4\u30a4\u30b9\u30c8\u30fb\u30ef\u30f3\uff09\u95a2\u9023\u982d\u84cb\u9aa8\u7e2b\u5408\u65e9\u671f\u7652\u5408\u75c7\u300d\u3068\u547c\u3076\u3053\u3068\u304c\u5897\u3048\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>TWIST1\u3068\u3044\u3046\u907a\u4f1d\u5b50\u306b\u5909\u5316\u304c\u3042\u308b\u3053\u3068\u3067\u3001\u982d\u306e\u9aa8\u3084\u9854\u306e\u5f62\u6210\u306b\u5f71\u97ff\u304c\u51fa\u308b\u306e\u3067\u3059\u304c\u3001\u305d\u306e\u5f71\u97ff\u306e\u51fa\u65b9\u306f\u300c\u30b9\u30da\u30af\u30c8\u30e9\u30e0\uff08\u9023\u7d9a\u4f53\uff09\u300d\u3067\u3042\u308a\u3001\u91cd\u3044\u4eba\u3082\u3044\u308c\u3070\u8efd\u3044\u4eba\u3082\u3044\u308b\u3001\u307e\u3076\u305f\u306b\u75c7\u72b6\u304c\u51fa\u308b\u4eba\u3082\u3044\u308c\u3070\u51fa\u306a\u3044\u4eba\u3082\u3044\u308b\u3001\u3068\u3044\u3046\u3053\u3068\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%83%AD%E3%83%93%E3%83%8E%E3%82%A6%E3%83%BB%E3%82%BD%E3%83%A9%E3%82%A6%E3%83%95%E7%97%87%E5%80%99%E7%BE%A4%E3%81%A8%E3%81%AE%E9%96%A2%E4%BF%82\"><\/span><strong>\u30ed\u30d3\u30ce\u30a6\u30fb\u30bd\u30e9\u30a6\u30d5\u75c7\u5019\u7fa4\u3068\u306e\u95a2\u4fc2<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3082\u3057\u533b\u5e2b\u304b\u3089\u300c\u30ed\u30d3\u30ce\u30a6\u30fb\u30bd\u30e9\u30a6\u30d5\u75c7\u5019\u7fa4\u300d\u3068\u3044\u3046\u540d\u524d\u3092\u805e\u3044\u305f\u3053\u3068\u304c\u3042\u308b\u306a\u3089\u3001\u305d\u308c\u3082\u3053\u306e\u30b0\u30eb\u30fc\u30d7\u306b\u542b\u307e\u308c\u308b\u75c5\u6c17\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u30ed\u30d3\u30ce\u30a6\u30fb\u30bd\u30e9\u30a6\u30d5\u75c7\u5019\u7fa4\u306f\u3001\u30bb\u30fc\u30ec\u30fb\u30b7\u30a7\u30fc\u30bc\u30f3\u75c7\u5019\u7fa4\u3068\u975e\u5e38\u306b\u3088\u304f\u4f3c\u3066\u3044\u307e\u3059\u304c\u3001\u624b\u8db3\u306e\u89aa\u6307\u304c\u5e45\u5e83\u3044\u3053\u3068\u304c\u7279\u5fb4\u3068\u3055\u308c\u3066\u304d\u307e\u3057\u305f\u3002\u3057\u304b\u3057\u3001\u907a\u4f1d\u5b50\u3092\u8abf\u3079\u308b\u3068\u540c\u3058TWIST1\u907a\u4f1d\u5b50\u306e\u5909\u5316\u3067\u3042\u308b\u3053\u3068\u304c\u5206\u304b\u308a\u3001\u73fe\u5728\u3067\u306f\u5b9f\u8cea\u7684\u306b\u540c\u3058\u75c5\u6c17\uff08\u3042\u308b\u3044\u306f\u305d\u306e\u8efd\u75c7\u578b\uff09\u3068\u3057\u3066\u6271\u308f\u308c\u308b\u3053\u3068\u304c\u591a\u304f\u306a\u3063\u3066\u3044\u307e\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\"><\/span><strong>\u4e3b\u306a\u75c7\u72b6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u3053\u306e\u75c7\u5019\u7fa4\u306e\u75c7\u72b6\u306f\u3001\u60a3\u8005\u3055\u3093\u4e00\u4eba\u3072\u3068\u308a\u306b\u3088\u3063\u3066\u7a0b\u5ea6\u304c\u9a5a\u304f\u307b\u3069\u7570\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u3053\u3067\u306f\u3001\u4ee3\u8868\u7684\u306a\u75c7\u72b6\u3068\u3001\u4eba\u306b\u3088\u3063\u3066\u51fa\u305f\u308a\u51fa\u306a\u304b\u3063\u305f\u308a\u3059\u308b\u75c7\u72b6\u306b\u3064\u3044\u3066\u8a73\u3057\u304f\u89e3\u8aac\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E9%A0%AD%E3%81%AE%E5%BD%A2%E3%81%AE%E7%89%B9%E5%BE%B4%EF%BC%88%E9%A0%AD%E8%93%8B%E9%AA%A8%E7%B8%AB%E5%90%88%E6%97%A9%E6%9C%9F%E7%99%92%E5%90%88%E7%97%87%EF%BC%89\"><\/span><strong>1. \u982d\u306e\u5f62\u306e\u7279\u5fb4\uff08\u982d\u84cb\u9aa8\u7e2b\u5408\u65e9\u671f\u7652\u5408\u75c7\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6700\u3082\u6cbb\u7642\u306e\u5bfe\u8c61\u3068\u306a\u308a\u3084\u3059\u3044\u3001\u3053\u306e\u75c5\u6c17\u306e\u4e2d\u6838\u3068\u306a\u308b\u75c7\u72b6\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u982d\u84cb\u9aa8\u7e2b\u5408\u65e9\u671f\u7652\u5408\u75c7\u3068\u306f<\/p>\n\n\n\n<p>\u8d64\u3061\u3083\u3093\u306e\u982d\u306e\u9aa8\u306f\u3001\u8133\u306e\u6210\u9577\u306b\u5408\u308f\u305b\u3066\u5e83\u304c\u308b\u3088\u3046\u306b\u3001\u3044\u304f\u3064\u304b\u306e\u30d1\u30fc\u30c4\u306b\u5206\u304b\u308c\u3066\u3044\u307e\u3059\u3002\u305d\u306e\u3064\u306a\u304e\u76ee\u3092\u300c\u7e2b\u5408\u300d\u3068\u8a00\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u3067\u306f\u3001\u7279\u5b9a\u306e\u7e2b\u5408\u304c\u3001\u8133\u304c\u6210\u9577\u3057\u3066\u3044\u308b\u9014\u4e2d\u3067\u65e9\u304f\u9589\u3058\u3066\uff08\u304f\u3063\u3064\u3044\u3066\uff09\u3057\u307e\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u51a0\u72b6\u7e2b\u5408\u306e\u7652\u5408<\/p>\n\n\n\n<p>\u982d\u306e\u3066\u3063\u307a\u3093\u3092\u3001\u8033\u304b\u3089\u8033\u3078\u3068\u6a2a\u5207\u308b\u300c\u51a0\u72b6\u7e2b\u5408\uff08\u304b\u3093\u3058\u3087\u3046\u307b\u3046\u3054\u3046\uff09\u300d\u304c\u65e9\u304f\u9589\u3058\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u4e21\u5074\u304c\u9589\u3058\u308b\u3068\uff1a\u304a\u3067\u3053\u304c\u5e73\u3089\u306b\u306a\u308a\u3001\u982d\u304c\u524d\u5f8c\u306b\u77ed\u304f\u3001\u4e0a\u306b\u9ad8\u3044\u5f62\uff08\u77ed\u982d\u30fb\u5854\u72b6\u982d\uff09\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7247\u5074\u3060\u3051\u9589\u3058\u308b\u3068\uff1a\u9589\u3058\u305f\u5074\u306e\u304a\u3067\u3053\u304c\u5e73\u3089\u306b\u306a\u308a\u3001\u53cd\u5bfe\u5074\u304c\u51fa\u3063\u5f35\u308b\u305f\u3081\u3001\u9854\u3084\u982d\u304c\u5de6\u53f3\u975e\u5bfe\u79f0\uff08\u659c\u982d\uff09\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5927\u6cc9\u9580\u306e\u7570\u5e38<\/p>\n\n\n\n<p>\u982d\u306e\u3066\u3063\u307a\u3093\u306b\u3042\u308b\u67d4\u3089\u304b\u3044\u90e8\u5206\uff08\u5927\u6cc9\u9580\uff09\u304c\u3001\u9006\u306b\u9589\u3058\u308b\u306e\u304c\u9045\u304b\u3063\u305f\u308a\u3001\u5927\u304d\u304b\u3063\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E7%9C%BC%E3%81%A8%E3%81%BE%E3%81%B6%E3%81%9F%E3%81%AE%E7%97%87%E7%8A%B6%EF%BC%88%E7%9C%BC%E7%9E%BC%E7%95%B0%E5%B8%B8%EF%BC%89\"><\/span><strong>2. \u773c\u3068\u307e\u3076\u305f\u306e\u75c7\u72b6\uff08\u773c\u77bc\u7570\u5e38\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u75c5\u540d\u306b\u3082\u3042\u308b\u901a\u308a\u3001\u3053\u306e\u75c7\u72b6\u304c\u3042\u308b\u5834\u5408\u3068\u306a\u3044\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u773c\u77bc\u4e0b\u5782\uff08\u304c\u3093\u3051\u3093\u304b\u3059\u3044\uff09<\/p>\n\n\n\n<p>\u4e0a\u307e\u3076\u305f\u3092\u6301\u3061\u4e0a\u3052\u308b\u7b4b\u8089\u306e\u50cd\u304d\u304c\u5f31\u304f\u3001\u307e\u3076\u305f\u304c\u4e0b\u304c\u3063\u3066\u9ed2\u76ee\u306e\u4e00\u90e8\u3001\u3042\u308b\u3044\u306f\u77b3\u5b54\uff08\u77b3\u306e\u4e2d\u5fc3\uff09\u306b\u304b\u304b\u3063\u3066\u3044\u308b\u72b6\u614b\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u7247\u5074\u3060\u3051\u306e\u5834\u5408\u3082\u3042\u308c\u3070\u3001\u4e21\u5074\u306e\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u91cd\u5ea6\u306e\u5834\u5408\u306f\u3001\u8996\u754c\u304c\u906e\u3089\u308c\u308b\u305f\u3081\u3001\u3042\u3054\u3092\u4e0a\u3052\u3066\u7269\u3092\u898b\u308b\u3088\u3046\u306a\u4ed5\u8349\u3092\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6d99\u7ba1\u72ed\u7a84\uff08\u308b\u3044\u304b\u3093\u304d\u3087\u3046\u3055\u304f\uff09<\/p>\n\n\n\n<p>\u6d99\u306e\u901a\u308a\u9053\uff08\u6d99\u7ba1\uff09\u304c\u72ed\u304f\u3001\u6d99\u76ee\u306b\u306a\u308a\u3084\u3059\u304b\u3063\u305f\u308a\u3001\u76ee\u3084\u306b\u304c\u51fa\u3084\u3059\u304b\u3063\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u659c\u8996\uff08\u3057\u3083\u3057\uff09<\/p>\n\n\n\n<p>\u5de6\u53f3\u306e\u8996\u7dda\u304c\u5408\u308f\u306a\u3044\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u982d\u306e\u9aa8\u306e\u975e\u5bfe\u79f0\u6027\u306b\u3088\u308b\u773c\u7aa9\uff08\u76ee\u306e\u5165\u308b\u9aa8\u306e\u304f\u307c\u307f\uff09\u306e\u5909\u5f62\u304c\u539f\u56e0\u306e\u3053\u3068\u3082\u3042\u308c\u3070\u3001\u76ee\u306e\u7b4b\u8089\u306e\u554f\u984c\u306e\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E9%A1%94%E8%B2%8C%E3%81%AE%E7%89%B9%E5%BE%B4\"><\/span><strong>3. \u9854\u8c8c\u306e\u7279\u5fb4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u304a\u9854\u7acb\u3061\u306b\u3082\u3001\u3044\u304f\u3064\u304b\u306e\u5171\u901a\u3057\u305f\u7279\u5fb4\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u9854\u306e\u975e\u5bfe\u79f0<\/p>\n\n\n\n<p>\u7247\u5074\u306e\u7e2b\u5408\u7652\u5408\u304c\u3042\u308b\u5834\u5408\u3001\u9f3b\u304c\u66f2\u304c\u3063\u3066\u3044\u305f\u308a\u3001\u7709\u6bdb\u306e\u9ad8\u3055\u304c\u9055\u3063\u305f\u308a\u3057\u3066\u3001\u304a\u9854\u5168\u4f53\u304c\u6b6a\u3093\u3067\u898b\u3048\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u3092\u300c\u9854\u9762\u5074\u5f2f\u300d\u3068\u547c\u3076\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4f4e\u3044\u524d\u9aea\u306e\u751f\u3048\u969b<\/p>\n\n\n\n<p>\u9aea\u306e\u751f\u3048\u969b\u304c\u304a\u3067\u3053\u306e\u4f4e\u3044\u4f4d\u7f6e\u306b\u3042\u308a\u3001M\u5b57\u578b\u306e\u3088\u3046\u306b\u898b\u3048\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8033\u306e\u7279\u5fb4<\/p>\n\n\n\n<p>\u8033\u306e\u4f4d\u7f6e\u304c\u4f4e\u3044\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8033\u306e\u8edf\u9aa8\u306e\u5f62\u306b\u7279\u5fb4\u304c\u51fa\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u300c\u30af\u30eb\u30b9\u811a\u300d\u3068\u547c\u3070\u308c\u308b\u8033\u306e\u4e2d\u306e\u9686\u8d77\u304c\u76ee\u7acb\u3064\u3053\u3068\u3084\u3001\u8033\u306e\u8f2a\u90ed\u304c\u5c11\u3057\u6298\u308c\u66f2\u304c\u3063\u3066\u3044\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u9f3b\u4e2d\u9694\u5f2f\u66f2<\/p>\n\n\n\n<p>\u9f3b\u306e\u771f\u3093\u4e2d\u306e\u58c1\u304c\u66f2\u304c\u3063\u3066\u3044\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E6%89%8B%E8%B6%B3%E3%81%AE%E7%89%B9%E5%BE%B4\"><\/span><strong>4. \u624b\u8db3\u306e\u7279\u5fb4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u624b\u8db3\u306e\u6307\u306b\u3082\u8efd\u3044\u5909\u5316\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5408\u6307\u75c7\uff08\u3054\u3046\u3057\u3057\u3087\u3046\uff09<\/p>\n\n\n\n<p>\u6307\u3068\u6307\u306e\u9593\u306e\u76ae\u819a\u304c\u3064\u306a\u304c\u3063\u3066\u3001\u6c34\u304b\u304d\u306e\u3088\u3046\u306b\u306a\u3063\u3066\u3044\u308b\u72b6\u614b\uff08\u8edf\u90e8\u5408\u6307\u75c7\uff09\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u7279\u306b\u4eba\u5dee\u3057\u6307\u3068\u4e2d\u6307\u306e\u9593\uff08\u7b2c2\u30fb3\u6307\u9593\uff09\u306b\u3088\u304f\u898b\u3089\u308c\u307e\u3059\u3002\u30a2\u30da\u30fc\u30eb\u75c7\u5019\u7fa4\u306e\u3088\u3046\u306b\u9aa8\u307e\u3067\u30ac\u30c3\u30c1\u30ea\u304f\u3063\u3064\u3044\u3066\u3044\u308b\u3053\u3068\u306f\u7a00\u3067\u3001\u76ae\u819a\u3060\u3051\u306e\u7652\u5408\u3067\u3042\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u89aa\u6307\u306e\u7279\u5fb4<\/p>\n\n\n\n<p>\u624b\u8db3\u306e\u89aa\u6307\u304c\u5e45\u5e83\u304b\u3063\u305f\u308a\u3001\u5c11\u3057\u66f2\u304c\u3063\u3066\u3044\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"5_%E8%84%B3%E3%81%B8%E3%81%AE%E5%BD%B1%E9%9F%BF%E3%81%A8%E7%99%BA%E9%81%94\"><\/span><strong>5. \u8133\u3078\u306e\u5f71\u97ff\u3068\u767a\u9054<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8133\u5727\u306e\u554f\u984c<\/p>\n\n\n\n<p>\u982d\u306e\u9aa8\u304c\u5e83\u304c\u3089\u306a\u3044\u3053\u3068\u3067\u3001\u8133\u3078\u306e\u5727\u529b\uff08\u982d\u84cb\u5185\u5727\uff09\u304c\u9ad8\u304f\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u982d\u75db\u3001\u5614\u5410\u3001\u30a4\u30e9\u30a4\u30e9\u306a\u3069\u306e\u539f\u56e0\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u767a\u9054\u3068\u77e5\u80fd<\/p>\n\n\n\n<p>\u3054\u5bb6\u65cf\u306b\u3068\u3063\u3066\u6700\u3082\u5fc3\u914d\u306a\u70b9\u304b\u3068\u601d\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75c7\u5019\u7fa4\u306e\u304a\u5b50\u69d8\u306e\u591a\u304f\u306f\u3001\u77e5\u80fd\u306f\u6b63\u5e38\u7bc4\u56f2\u5185\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u305f\u3060\u3057\u3001\u8efd\u5ea6\u306e\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\u898b\u3089\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u3089\u304c\u300c\u8133\u306e\u5727\u8feb\u306b\u3088\u308b\u3082\u306e\u300d\u306a\u306e\u304b\u3001\u300c\u907a\u4f1d\u5b50\u306e\u5f71\u97ff\u305d\u306e\u3082\u306e\u300d\u306a\u306e\u304b\u306f\u5b8c\u5168\u306b\u306f\u5206\u304b\u3063\u3066\u3044\u307e\u305b\u3093\u304c\u3001\u65e9\u671f\u306b\u982d\u84cb\u5185\u5727\u3092\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3059\u308b\u3053\u3068\u3067\u3001\u767a\u9054\u306b\u3068\u3063\u3066\u826f\u3044\u74b0\u5883\u3092\u4f5c\u308b\u3053\u3068\u304c\u3067\u304d\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%8E%9F%E5%9B%A0%EF%BC%9A%E3%81%AA%E3%81%9C%E8%B5%B7%E3%81%8D%E3%81%9F%E3%81%AE%E3%81%8B\"><\/span><strong>\u539f\u56e0\uff1a\u306a\u305c\u8d77\u304d\u305f\u306e\u304b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u3054\u5bb6\u65cf\u304c\u300c\u306a\u305c\uff1f\u300d\u3068\u60a9\u307f\u3001\u6642\u306b\u3054\u81ea\u8eab\u3092\u8cac\u3081\u3066\u3057\u307e\u3046\u306e\u304c\u300c\u539f\u56e0\u300d\u306b\u3064\u3044\u3066\u3067\u3059\u3002\u3057\u304b\u3057\u3001\u58f0\u3092\u5927\u306b\u3057\u3066\u304a\u4f1d\u3048\u3057\u305f\u3044\u306e\u306f\u3001\u3054\u4e21\u89aa\u306e\u80b2\u3066\u65b9\u3084\u598a\u5a20\u4e2d\u306e\u904e\u3054\u3057\u65b9\u304c\u539f\u56e0\u3067\u306f\u306a\u3044\u3068\u3044\u3046\u3053\u3068\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"TWIST1%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AE%E5%A4%89%E7%95%B0\"><\/span><strong>TWIST1\u907a\u4f1d\u5b50\u306e\u5909\u7570<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3053\u306e\u75c7\u5019\u7fa4\u306e\u4e3b\u306a\u539f\u56e0\u306f\u30017\u756a\u67d3\u8272\u4f53\u306b\u3042\u308b\u300cTWIST1\uff08\u30c4\u30a4\u30b9\u30c8\u30fb\u30ef\u30f3\uff09\u300d\u3068\u3044\u3046\u907a\u4f1d\u5b50\u306e\u5909\u7570\uff08\u5909\u5316\uff09\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u907a\u4f1d\u5b50\u306f\u3001\u8d64\u3061\u3083\u3093\u304c\u304a\u8179\u306e\u4e2d\u3067\u6210\u9577\u3059\u308b\u6642\u306b\u3001\u9aa8\u3084\u7b4b\u8089\u3001\u76ae\u819a\u306a\u3069\u306e\u7d44\u7e54\u304c\u6b63\u3057\u304f\u4f5c\u3089\u308c\u308b\u3088\u3046\u306b\u6307\u4ee4\u3092\u51fa\u3059\u300c\u53f8\u4ee4\u5854\uff08\u8ee2\u5199\u56e0\u5b50\uff09\u300d\u306e\u5f79\u5272\u3092\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u53f8\u4ee4\u5854\u306e\u5f79\u5272<\/p>\n\n\n\n<p>\u7279\u306b\u3001\u982d\u306e\u9aa8\u306e\u7d99\u304e\u76ee\uff08\u7e2b\u5408\uff09\u304c\u9069\u5207\u306a\u6642\u671f\u307e\u3067\u958b\u3044\u3066\u3044\u308b\u3088\u3046\u306b\u4fdd\u3064\u6307\u4ee4\u3084\u3001\u307e\u3076\u305f\u306e\u7b4b\u8089\u3092\u4f5c\u308b\u6307\u4ee4\u3092\u51fa\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6a5f\u80fd\u306e\u55aa\u5931<\/p>\n\n\n\n<p>\u591a\u304f\u306e\u60a3\u8005\u3055\u3093\u3067\u306f\u3001\u3053\u306eTWIST1\u907a\u4f1d\u5b50\u306e\u4e00\u90e8\u304c\u6b20\u3051\u3066\u3044\u305f\u308a\uff08\u6b20\u5931\uff09\u3001\u6587\u5b57\u304c\u5909\u308f\u3063\u3066\u3044\u305f\u308a\uff08\u70b9\u5909\u7570\uff09\u3059\u308b\u3053\u3068\u3067\u3001\u53f8\u4ee4\u5854\u3068\u3057\u3066\u306e\u6a5f\u80fd\u304c\u534a\u5206\u306b\u306a\u3063\u3066\u3057\u307e\u3063\u3066\u3044\u307e\u3059\uff08\u30cf\u30d7\u30ed\u4e0d\u5168\uff09\u3002<\/p>\n\n\n\n<p>\u6307\u4ee4\u304c\u5f31\u3044\u305f\u3081\u3001\u672c\u6765\u307e\u3060\u958b\u3044\u3066\u3044\u306a\u3051\u308c\u3070\u306a\u3089\u306a\u3044\u9aa8\u306e\u7d99\u304e\u76ee\u304c\u65e9\u304f\u9589\u3058\u305f\u308a\u3001\u307e\u3076\u305f\u3092\u6301\u3061\u4e0a\u3052\u308b\u7b4b\u8089\u304c\u5341\u5206\u306b\u80b2\u305f\u306a\u304b\u3063\u305f\u308a\u3059\u308b\u306e\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%AA%E3%81%9C%E3%80%8C%E7%9C%BC%E7%9E%BC%E7%95%B0%E5%B8%B8%E3%80%8D%E3%81%8C%E3%81%82%E3%82%8B%E4%BA%BA%E3%81%A8%E3%81%AA%E3%81%84%E4%BA%BA%E3%81%8C%E3%81%84%E3%82%8B%E3%81%AE%E3%81%8B%EF%BC%9F\"><\/span><strong>\u306a\u305c\u300c\u773c\u77bc\u7570\u5e38\u300d\u304c\u3042\u308b\u4eba\u3068\u306a\u3044\u4eba\u304c\u3044\u308b\u306e\u304b\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u540c\u3058TWIST1\u907a\u4f1d\u5b50\u306b\u5909\u7570\u304c\u3042\u3063\u3066\u3082\u3001\u75c7\u72b6\u304c\u9055\u3046\u7406\u7531\u306f\u5b8c\u5168\u306b\u306f\u89e3\u660e\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u304c\u3001\u3044\u304f\u3064\u304b\u306e\u53ef\u80fd\u6027\u304c\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5909\u7570\u306e\u5834\u6240\u306e\u9055\u3044<\/p>\n\n\n\n<p>\u907a\u4f1d\u5b50\u306e\u4e2d\u306e\u3069\u306e\u90e8\u5206\u304c\u5909\u308f\u3063\u305f\u304b\u306b\u3088\u3063\u3066\u3001\u75c7\u72b6\u306e\u51fa\u3084\u3059\u3055\u304c\u5909\u308f\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u500b\u4eba\u306e\u4f53\u8cea\uff08\u907a\u4f1d\u7684\u80cc\u666f\uff09<\/p>\n\n\n\n<p>\u4ed6\u306e\u907a\u4f1d\u5b50\u306e\u50cd\u304d\u306b\u3088\u3063\u3066\u3001TWIST1\u306e\u6a5f\u80fd\u4e0d\u8db3\u304c\u88dc\u308f\u308c\u3066\u3044\u308b\u4eba\u3068\u3001\u305d\u3046\u3067\u306a\u3044\u4eba\u304c\u3044\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5076\u7136\u306e\u8981\u7d20<\/p>\n\n\n\n<p>\u767a\u751f\u306e\u904e\u7a0b\u3067\u306e\u5076\u7136\u306e\u3070\u3089\u3064\u304d\u3082\u5f71\u97ff\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%BA%E4%BC%9D%E3%81%AE%E4%BB%95%E7%B5%84%E3%81%BF%EF%BC%88%E5%B8%B8%E6%9F%93%E8%89%B2%E4%BD%93%E9%A1%95%E6%80%A7%E9%81%BA%E4%BC%9D%EF%BC%89\"><\/span><strong>\u907a\u4f1d\u306e\u4ed5\u7d44\u307f\uff08\u5e38\u67d3\u8272\u4f53\u9855\u6027\u907a\u4f1d\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306f\u300c\u9855\u6027\u907a\u4f1d\uff08\u4ee5\u524d\u306f\u512a\u6027\u907a\u4f1d\u3068\u547c\u3070\u308c\u307e\u3057\u305f\uff09\u300d\u3068\u3044\u3046\u5f62\u5f0f\u3092\u3068\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li>\u89aa\u304b\u3089\u306e\u907a\u4f1d<br>\u3054\u4e21\u89aa\u306e\u3069\u3061\u3089\u304b\u304c\u540c\u3058\u75c5\u6c17\u3092\u6301\u3063\u3066\u304a\u308a\u3001\u305d\u306e\u907a\u4f1d\u5b50\u304c50%\u306e\u78ba\u7387\u3067\u304a\u5b50\u69d8\u306b\u53d7\u3051\u7d99\u304c\u308c\u305f\u30b1\u30fc\u30b9\u3002<br>\u3053\u306e\u75c7\u5019\u7fa4\u306f\u75c7\u72b6\u304c\u8efd\u3044\u4eba\u3082\u591a\u3044\u305f\u3081\u3001\u89aa\u5fa1\u3055\u3093\u304c\u300c\u81ea\u5206\u306f\u5c11\u3057\u304a\u3067\u3053\u304c\u5e73\u3089\u306a\u3060\u3051\u3060\u3068\u601d\u3063\u3066\u3044\u305f\u300d\u300c\u7247\u65b9\u306e\u307e\u3076\u305f\u304c\u5c11\u3057\u91cd\u3044\u3060\u3051\u3060\u3068\u601d\u3063\u3066\u3044\u305f\u300d\u3068\u3044\u3046\u30b1\u30fc\u30b9\u304c\u3042\u308a\u3001\u304a\u5b50\u69d8\u304c\u8a3a\u65ad\u3055\u308c\u3066\u521d\u3081\u3066\u3054\u81ea\u8eab\u306e\u4f53\u8cea\u306b\u6c17\u3065\u304f\u3053\u3068\u3082\u3088\u304f\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u7a81\u7136\u5909\u7570\uff08de novo\u5909\u7570\uff09<br>\u3054\u4e21\u89aa\u306e\u907a\u4f1d\u5b50\u306b\u306f\u5168\u304f\u7570\u5e38\u304c\u306a\u304f\u3001\u53d7\u7cbe\u5375\u304c\u3067\u304d\u308b\u904e\u7a0b\u3067\u5076\u7136TWIST1\u907a\u4f1d\u5b50\u306b\u5909\u5316\u304c\u8d77\u304d\u305f\u30b1\u30fc\u30b9\u3002<br>\u3053\u306e\u5834\u5408\u3001\u8ab0\u306e\u305b\u3044\u3067\u3082\u3042\u308a\u307e\u305b\u3093\u3002\u81ea\u7136\u306e\u78ba\u7387\u7684\u306a\u73fe\u8c61\u3067\u3059\u3002<\/li>\n<\/ol>\n\n\n<!--nipt_mono-->\r\n<div class=\"nipt-mono\">\r\n    <div class=\"nipt-mono-btn\">\r\n        <a href=\"\/nipt\/nipt-mono\/\">\r\n            <img decoding=\"async\" loading=\"lazy\" src=\"\/nipt\/wp-content\/uploads\/2026\/03\/NIPT-MONO.webp\" alt=\"NIPT-MONO\u3067\u8abf\u3079\u3089\u308c\u307e\u3059\">\r\n         <\/a>\r\n    <\/div>\r\n<\/div>\r\n\r\n<style>\r\n.nipt-mono {\r\n    text-align: center; \/* \u89aa\u8981\u7d20\u3067\u6a2a\u4e2d\u592e *\/\r\n}\r\n.nipt-mono a img {\r\n    display: inline-block; \/* \u753b\u50cf\u3092\u30a4\u30f3\u30e9\u30a4\u30f3\u30d6\u30ed\u30c3\u30af\u5316\u3057\u3066 text-align \u306b\u53cd\u6620 *\/\r\n    width: 333px;\r\n}\r\n<\/style>\r\n<!--\/nipt_mono-->\r\n\r\n\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"400\" src=\"\/nipt\/wp-content\/uploads\/2025\/11\/928539_s.webp\" alt=\"\u533b\u8005\" class=\"wp-image-119528\"\/><\/figure><\/div>\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%A8%BA%E6%96%AD%E3%81%A8%E6%A4%9C%E6%9F%BB\"><\/span><strong>\u8a3a\u65ad\u3068\u691c\u67fb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u8a3a\u65ad\u306f\u3001\u898b\u305f\u76ee\u306e\u7279\u5fb4\u3001\u753b\u50cf\u691c\u67fb\u3001\u305d\u3057\u3066\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u3092\u7d44\u307f\u5408\u308f\u305b\u3066\u884c\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7279\u306b\u300c\u773c\u77bc\u7570\u5e38\u304c\u306a\u3044\u300d\u30bf\u30a4\u30d7\u306e\u5834\u5408\u3001\u8a3a\u65ad\u304c\u96e3\u3057\u304f\u3001\u907a\u4f1d\u5b50\u691c\u67fb\u304c\u6c7a\u5b9a\u6253\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E8%BA%AB%E4%BD%93%E8%A8%BA%E5%AF%9F\"><\/span><strong>1. \u8eab\u4f53\u8a3a\u5bdf<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u982d\u306e\u5f62\u3001\u307e\u3076\u305f\u306e\u4e0b\u304c\u308a\u5177\u5408\u3001\u8033\u306e\u5f62\u3001\u624b\u8db3\u306e\u6307\u306a\u3069\u3092\u8a73\u3057\u304f\u89b3\u5bdf\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E9%A0%AD%E9%83%A83D-CT%EF%BC%88%E6%9C%80%E3%82%82%E9%87%8D%E8%A6%81%E3%81%AA%E6%A4%9C%E6%9F%BB%EF%BC%89\"><\/span><strong>2. \u982d\u90e83D-CT\uff08\u6700\u3082\u91cd\u8981\u306a\u691c\u67fb\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u982d\u306e\u9aa8\u30923\u6b21\u5143\u7684\u306b\u64ae\u5f71\u3067\u304d\u308bCT\u691c\u67fb\u3092\u884c\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u9aa8\u306e\u72b6\u614b\u304c\u624b\u306b\u53d6\u308b\u3088\u3046\u306b\u5206\u304b\u308a\u307e\u3059\u3002\u51a0\u72b6\u7e2b\u5408\u306a\u3069\u306e\u7e2b\u5408\u304c\u9589\u3058\u3066\u3057\u307e\u3063\u3066\u3044\u308b\u304b\u3001\u982d\u84cb\u9aa8\u306e\u5185\u5074\u306b\u8133\u306b\u3088\u308b\u5727\u8feb\u306e\u8de1\uff08\u6307\u5727\u75d5\uff1a\u3057\u3042\u3064\u3053\u3093\uff09\u304c\u3042\u308b\u304b\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E7%9C%BC%E7%A7%91%E6%A4%9C%E6%9F%BB\"><\/span><strong>3. \u773c\u79d1\u691c\u67fb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8996\u529b\u691c\u67fb\u3060\u3051\u3067\u306a\u304f\u3001\u773c\u5e95\u691c\u67fb\u3092\u884c\u3063\u3066\u300c\u3046\u3063\u8840\u4e73\u982d\u300d\u304c\u306a\u3044\u304b\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002\u3046\u3063\u8840\u4e73\u982d\u306f\u3001\u8133\u306e\u5727\u529b\u304c\u9577\u304f\u9ad8\u3044\u72b6\u614b\u306b\u3042\u308b\u30b5\u30a4\u30f3\u3067\u3059\u3002\u3053\u308c\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u624b\u8853\u306e\u5fc5\u8981\u6027\u304c\u9ad8\u307e\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E9%81%BA%E4%BC%9D%E5%AD%A6%E7%9A%84%E6%A4%9C%E6%9F%BB\"><\/span><strong>4. \u907a\u4f1d\u5b66\u7684\u691c\u67fb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8840\u6db2\u691c\u67fb\u3067DNA\u3092\u8abf\u3079\u3001TWIST1\u907a\u4f1d\u5b50\u306b\u5909\u7570\u304c\u3042\u308b\u304b\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u75c7\u72b6\u304c\u5178\u578b\u7684\u3067\u306a\u3044\u5834\u5408\uff08\u307e\u3076\u305f\u306e\u7570\u5e38\u304c\u306a\u3044\u3001\u982d\u306e\u5909\u5f62\u304c\u8efd\u5ea6\u306a\u3069\uff09\u3067\u3082\u3001\u3053\u306e\u691c\u67fb\u3067\u5909\u7570\u304c\u898b\u3064\u304b\u308c\u3070\u78ba\u5b9a\u8a3a\u65ad\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u5c06\u6765\u306e\u3054\u5bb6\u65cf\u8a08\u753b\uff08\u6b21\u306e\u5b50\u3078\u306e\u907a\u4f1d\u306a\u3069\uff09\u3092\u8003\u3048\u308b\u4e0a\u3067\u3082\u91cd\u8981\u306a\u60c5\u5831\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%B2%BB%E7%99%82%E3%81%A8%E7%AE%A1%E7%90%86%EF%BC%9A%E3%81%93%E3%82%8C%E3%81%8B%E3%82%89%E3%81%AE%E3%83%AD%E3%83%BC%E3%83%89%E3%83%9E%E3%83%83%E3%83%97\"><\/span><strong>\u6cbb\u7642\u3068\u7ba1\u7406\uff1a\u3053\u308c\u304b\u3089\u306e\u30ed\u30fc\u30c9\u30de\u30c3\u30d7<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u907a\u4f1d\u5b50\u306e\u5909\u5316\u305d\u306e\u3082\u306e\u3092\u6cbb\u3059\u6cbb\u7642\u6cd5\uff08\u6839\u672c\u6cbb\u7642\uff09\u306f\u3001\u73fe\u6642\u70b9\u3067\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u4e3b\u306a\u75c7\u72b6\u3067\u3042\u308b\u300c\u982d\u84cb\u9aa8\u7e2b\u5408\u65e9\u671f\u7652\u5408\u75c7\u300d\u3084\u300c\u773c\u77bc\u4e0b\u5782\u300d\u306a\u3069\u306b\u5bfe\u3057\u3066\u306f\u3001\u624b\u8853\u306b\u3088\u308b\u6cbb\u7642\u6cd5\u304c\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u9069\u5207\u306a\u6642\u671f\u306b\u6cbb\u7642\u3092\u884c\u3046\u3053\u3068\u3067\u3001\u6a5f\u80fd\u7684\u306a\u554f\u984c\u3092\u89e3\u6c7a\u3057\u3001\u898b\u305f\u76ee\u3092\u6574\u3048\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E9%A0%AD%E8%93%8B%E5%BD%A2%E6%88%90%E6%89%8B%E8%A1%93%EF%BC%88%E8%84%B3%E5%A4%96%E7%A7%91%E3%83%BB%E5%BD%A2%E6%88%90%E5%A4%96%E7%A7%91%EF%BC%89\"><\/span><strong>1. \u982d\u84cb\u5f62\u6210\u624b\u8853\uff08\u8133\u5916\u79d1\u30fb\u5f62\u6210\u5916\u79d1\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6700\u3082\u91cd\u8981\u306a\u6cbb\u7642\u3067\u3059\u3002\u76ee\u7684\u306f2\u3064\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8133\u3092\u5b88\u308b\uff1a\u9589\u3058\u3066\u3057\u307e\u3063\u305f\u9aa8\u3092\u5e83\u3052\u3066\u3001\u8133\u304c\u6210\u9577\u3067\u304d\u308b\u30b9\u30da\u30fc\u30b9\u3092\u78ba\u4fdd\u3057\u3001\u982d\u84cb\u5185\u5727\u3092\u4e0b\u3052\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u898b\u305f\u76ee\u3092\u6574\u3048\u308b\uff1a\u304a\u3067\u3053\u306e\u5f62\u3092\u304d\u308c\u3044\u306b\u6574\u3048\u3001\u9854\u306e\u5de6\u53f3\u5dee\u3092\u6539\u5584\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6642\u671f\u3068\u65b9\u6cd5<\/p>\n\n\n\n<p>\u4e00\u822c\u7684\u306b\u306f\u751f\u5f8c6\u30f6\u6708\u301c1\u6b73\u534a\u9803\u306b\u884c\u308f\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u9aa8\u3092\u4e00\u5ea6\u53d6\u308a\u5916\u3057\u3066\u7d44\u307f\u66ff\u3048\u308b\u300c\u982d\u84cb\u5f62\u6210\u8853\u300d\u3084\u3001\u5ef6\u9577\u5668\u3092\u4f7f\u3063\u3066\u9aa8\u3092\u5f90\u3005\u306b\u5e83\u3052\u308b\u300c\u9aa8\u5ef6\u9577\u6cd5\u300d\u306a\u3069\u304c\u3042\u308a\u307e\u3059\u3002\u304a\u5b50\u69d8\u306e\u72b6\u614b\u306b\u5408\u308f\u305b\u3066\u6700\u9069\u306a\u65b9\u6cd5\u304c\u9078\u3070\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E7%9C%BC%E3%81%AE%E6%89%8B%E8%A1%93\"><\/span><strong>2. \u773c\u306e\u624b\u8853<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u773c\u77bc\u4e0b\u5782\u306e\u624b\u8853<\/p>\n\n\n\n<p>\u307e\u3076\u305f\u304c\u4e0b\u304c\u3063\u3066\u3044\u3066\u898b\u3048\u306b\u304f\u3044\u5834\u5408\u3084\u3001\u8996\u529b\u306e\u767a\u9054\u3092\u59a8\u3052\u308b\uff08\u5f31\u8996\u306b\u306a\u308b\uff09\u30ea\u30b9\u30af\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u307e\u3076\u305f\u3092\u5f15\u304d\u4e0a\u3052\u308b\u624b\u8853\u3092\u884c\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u898b\u305f\u76ee\u306e\u6539\u5584\u306e\u305f\u3081\u306b\u3082\u884c\u308f\u308c\u307e\u3059\u304c\u3001\u76ee\u306e\u9589\u3058\u306b\u304f\u3055\uff08\u514e\u773c\uff09\u3068\u306e\u30d0\u30e9\u30f3\u30b9\u3092\u8003\u3048\u3066\u614e\u91cd\u306b\u884c\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6d99\u7ba1\u306e\u624b\u8853<\/p>\n\n\n\n<p>\u6d99\u76ee\u3084\u76ee\u3084\u306b\u304c\u3072\u3069\u3044\u5834\u5408\u306f\u3001\u6d99\u7ba1\u306b\u30c1\u30e5\u30fc\u30d6\u3092\u901a\u3059\u51e6\u7f6e\u3084\u624b\u8853\u3092\u884c\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E6%89%8B%E8%B6%B3%E3%81%AE%E6%89%8B%E8%A1%93\"><\/span><strong>3. \u624b\u8db3\u306e\u624b\u8853<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5408\u6307\u75c7\u306e\u624b\u8853<\/p>\n\n\n\n<p>\u6307\u306e\u7652\u5408\u304c\u3042\u308a\u3001\u6307\u306e\u52d5\u304d\u3092\u5236\u9650\u3057\u3066\u3044\u308b\u5834\u5408\u306f\u30011\u6b73\u4ee5\u964d\u306b\u6307\u3092\u5206\u96e2\u3059\u308b\u624b\u8853\u3092\u884c\u3044\u307e\u3059\u3002\u8efd\u5ea6\u3067\u6a5f\u80fd\u306b\u554f\u984c\u304c\u306a\u3051\u308c\u3070\u3001\u624b\u8853\u3092\u3057\u306a\u3044\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E7%99%BA%E9%81%94%E3%83%BB%E7%99%82%E8%82%B2%E3%82%B5%E3%83%9D%E3%83%BC%E3%83%88\"><\/span><strong>4. \u767a\u9054\u30fb\u7642\u80b2\u30b5\u30dd\u30fc\u30c8<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8a00\u8449\u306e\u9045\u308c\u3084\u4f53\u306e\u4f7f\u3044\u65b9\u306e\u4e0d\u5668\u7528\u3055\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u7642\u80b2\uff08\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\uff09\u3092\u53d7\u3051\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09\u3084\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09\u306a\u3069\u3092\u901a\u3058\u3066\u3001\u304a\u5b50\u69d8\u306e\u6210\u9577\u3092\u30b5\u30dd\u30fc\u30c8\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%BA%88%E5%BE%8C%E3%81%A8%E7%94%9F%E6%B4%BB%E3%81%AB%E3%81%A4%E3%81%84%E3%81%A6\"><\/span><strong>\u4e88\u5f8c\u3068\u751f\u6d3b\u306b\u3064\u3044\u3066<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u3053\u306e\u75c7\u5019\u7fa4\u306e\u4e88\u5f8c\u306f\u3001\u4e00\u822c\u7684\u306b\u826f\u597d\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u9069\u5207\u306a\u6642\u671f\u306b\u624b\u8853\u3092\u53d7\u3051\u308b\u3053\u3068\u3067\u3001\u982d\u306e\u5f62\u3084\u9854\u7acb\u3061\u306f\u6539\u5584\u3057\u3001\u8133\u306e\u6210\u9577\u74b0\u5883\u3082\u5b88\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u591a\u304f\u306e\u304a\u5b50\u69d8\u304c\u3001\u5730\u5143\u306e\u5b66\u6821\u306b\u901a\u3044\u3001\u53cb\u9054\u3092\u4f5c\u308a\u3001\u52c9\u5f37\u3084\u30b9\u30dd\u30fc\u30c4\u3092\u697d\u3057\u3093\u3067\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u65e5\u5e38\u751f\u6d3b\u3067\u306e\u5236\u9650<\/p>\n\n\n\n<p>\u57fa\u672c\u7684\u306b\u306f\u5236\u9650\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u305f\u3060\u3057\u3001\u982d\u306e\u624b\u8853\u3092\u53d7\u3051\u305f\u76f4\u5f8c\u306f\u3001\u8ee2\u5012\u306a\u3069\u306b\u6ce8\u610f\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u5b66\u6821\u751f\u6d3b<\/p>\n\n\n\n<p>\u77e5\u7684\u306b\u306f\u6b63\u5e38\u7bc4\u56f2\u306e\u304a\u5b50\u69d8\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u3082\u3057\u5b66\u7fd2\u9762\u3067\u306e\u82e6\u624b\u3055\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u5b66\u6821\u3068\u76f8\u8ac7\u3057\u3066\u30b5\u30dd\u30fc\u30c8\u3092\u53d7\u3051\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u307e\u305f\u3001\u898b\u305f\u76ee\u306e\u7279\u5fb4\u306b\u3064\u3044\u3066\u3001\u5468\u56f2\u306e\u7406\u89e3\u3092\u5f97\u308b\u3053\u3068\u3082\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u5fc3\u7406\u7684\u306a\u30b5\u30dd\u30fc\u30c8<\/p>\n\n\n\n<p>\u6210\u9577\u3059\u308b\u306b\u3064\u308c\u3066\u3001\u81ea\u5206\u306e\u9854\u7acb\u3061\u3084\u624b\u8853\u306e\u50b7\u8de1\u306b\u3064\u3044\u3066\u6c17\u306b\u3059\u308b\u3053\u3068\u304c\u3042\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002\u3054\u5bb6\u65cf\u304c\u300c\u305d\u306e\u5b50\u3089\u3057\u3055\u300d\u3092\u80af\u5b9a\u3057\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u306a\u3069\u306e\u30b5\u30dd\u30fc\u30c8\u3092\u53d7\u3051\u308b\u3053\u3068\u3082\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%82%88%E3%81%8F%E3%81%82%E3%82%8B%E8%B3%AA%E5%95%8F%EF%BC%88FAQ%EF%BC%89\"><\/span><strong>\u3088\u304f\u3042\u308b\u8cea\u554f\uff08FAQ\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>Q. \u307e\u3076\u305f\u306e\u624b\u8853\u306f\u3044\u3064\u3059\u308c\u3070\u3044\u3044\u3067\u3059\u304b\uff1f<\/p>\n\n\n\n<p>A. \u307e\u3076\u305f\u304c\u9ed2\u76ee\u3092\u5b8c\u5168\u306b\u8986\u3063\u3066\u3044\u3066\u3001\u8996\u529b\u306e\u767a\u9054\u3092\u59a8\u3052\u3066\u3044\u308b\u5834\u5408\u306f\u3001\u65e9\u6025\uff08\u4e73\u5150\u671f\uff09\u306b\u624b\u8853\u304c\u5fc5\u8981\u3067\u3059\u3002\u305d\u3046\u3067\u306a\u3044\u5834\u5408\u306f\u3001\u3042\u308b\u7a0b\u5ea6\u6210\u9577\u3057\u3066\uff083\u6b73\u4ee5\u964d\u3084\u5c31\u5b66\u524d\u306a\u3069\uff09\u3001\u672c\u4eba\u306e\u5354\u529b\u304c\u5f97\u3089\u308c\u3084\u3059\u304f\u306a\u3063\u3066\u304b\u3089\u884c\u3046\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u773c\u79d1\u533b\u3084\u5f62\u6210\u5916\u79d1\u533b\u3068\u76f8\u8ac7\u3057\u3066\u6c7a\u3081\u307e\u3059\u3002<\/p>\n\n\n\n<p>Q. \u624b\u8853\u306e\u50b7\u8de1\u306f\u76ee\u7acb\u3061\u307e\u3059\u304b\uff1f<\/p>\n\n\n\n<p>A. \u982d\u306e\u624b\u8853\u306e\u50b7\u8de1\u306f\u3001\u9aea\u306e\u6bdb\u306e\u4e2d\u306b\u96a0\u308c\u308b\u3088\u3046\u306b\u5207\u958b\u3059\u308b\u305f\u3081\u3001\u307b\u3068\u3093\u3069\u76ee\u7acb\u3061\u307e\u305b\u3093\u3002\u307e\u3076\u305f\u306e\u624b\u8853\u3082\u3001\u4e8c\u91cd\u306e\u30e9\u30a4\u30f3\u306b\u5408\u308f\u305b\u305f\u308a\u7709\u6bdb\u306e\u4e0b\u3092\u5207\u3063\u305f\u308a\u3057\u3066\u3001\u50b7\u8de1\u3092\u76ee\u7acb\u305f\u306a\u304f\u3059\u308b\u5de5\u592b\u304c\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>Q. \u6b21\u306e\u5b50\u306b\u907a\u4f1d\u3057\u307e\u3059\u304b\uff1f<\/p>\n\n\n\n<p>A. \u304a\u5b50\u69d8\u304c\u300c\u7a81\u7136\u5909\u7570\u300d\u306e\u5834\u5408\u3001\u6b21\u306e\u304a\u5b50\u69d8\u3078\u306e\u5f71\u97ff\u306f\u307b\u3068\u3093\u3069\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u89aa\u5fa1\u3055\u3093\u304c\u540c\u3058\u907a\u4f1d\u5b50\u5909\u7570\u3092\u6301\u3063\u3066\u3044\u308b\u5834\u5408\u306f\u300150%\u306e\u78ba\u7387\u3067\u907a\u4f1d\u3057\u307e\u3059\u3002\u305f\u3060\u3057\u3001\u3053\u306e\u75c7\u5019\u7fa4\u306f\u75c7\u72b6\u306e\u5e45\u304c\u5e83\u3044\u305f\u3081\u3001\u304a\u5b50\u69d8\u3068\u540c\u3058\u3088\u3046\u306a\u75c7\u72b6\u304c\u51fa\u308b\u3068\u306f\u9650\u3089\u305a\u3001\u3088\u308a\u8efd\u3044\u5834\u5408\u3082\u3042\u308c\u3070\u91cd\u3044\u5834\u5408\u3082\u3042\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><strong>\u307e\u3068\u3081<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u3053\u3053\u307e\u3067\u306e\u91cd\u8981\u30dd\u30a4\u30f3\u30c8\u3092\u632f\u308a\u8fd4\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li>\u3053\u306e\u75c7\u5019\u7fa4\u306f\u3001TWIST1\u907a\u4f1d\u5b50\u306e\u5909\u5316\u306b\u3088\u308b\u982d\u84cb\u9aa8\u7e2b\u5408\u65e9\u671f\u7652\u5408\u75c7\u306e\u30b0\u30eb\u30fc\u30d7\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u300c\u773c\u77bc\u7570\u5e38\u3092\u4f34\u3046\u300d\u5834\u5408\u3068\u300c\u4f34\u308f\u306a\u3044\u300d\u5834\u5408\u304c\u3042\u308a\u3001\u75c7\u72b6\u306b\u306f\u5927\u304d\u306a\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u30ed\u30d3\u30ce\u30a6\u30fb\u30bd\u30e9\u30a6\u30d5\u75c7\u5019\u7fa4\u3082\u3001\u73fe\u5728\u306f\u540c\u3058\u30b0\u30eb\u30fc\u30d7\u306e\u75be\u60a3\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6cbb\u7642\u306e\u57fa\u672c\u306f\u3001\u8133\u3092\u5b88\u308a\u898b\u305f\u76ee\u3092\u6574\u3048\u308b\u305f\u3081\u306e\u5916\u79d1\u624b\u8853\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u591a\u304f\u306e\u60a3\u8005\u3055\u3093\u306f\u77e5\u80fd\u304c\u6b63\u5e38\u3067\u3001\u9069\u5207\u306a\u30b1\u30a2\u306b\u3088\u308a\u793e\u4f1a\u751f\u6d3b\u3092\u9001\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/li>\n<\/ol>\n\n\n<!--nipt_mono-->\r\n<div class=\"nipt-mono\">\r\n    <div class=\"nipt-mono-btn\">\r\n        <a href=\"\/nipt\/nipt-mono\/\">\r\n            <img decoding=\"async\" loading=\"lazy\" src=\"\/nipt\/wp-content\/uploads\/2026\/03\/NIPT-MONO.webp\" alt=\"NIPT-MONO\u3067\u8abf\u3079\u3089\u308c\u307e\u3059\">\r\n         <\/a>\r\n    <\/div>\r\n<\/div>\r\n\r\n<style>\r\n.nipt-mono {\r\n    text-align: center; \/* \u89aa\u8981\u7d20\u3067\u6a2a\u4e2d\u592e *\/\r\n}\r\n.nipt-mono a img {\r\n    display: inline-block; \/* \u753b\u50cf\u3092\u30a4\u30f3\u30e9\u30a4\u30f3\u30d6\u30ed\u30c3\u30af\u5316\u3057\u3066 text-align \u306b\u53cd\u6620 *\/\r\n    width: 333px;\r\n}\r\n<\/style>\r\n<!--\/nipt_mono-->\r\n\r\n\n","protected":false},"excerpt":{"rendered":"\u304a\u5b50\u69d8\u3084\u3054\u81ea\u8eab\u304c\u300c\u773c\u77bc\u7570\u5e38\u3092\u4f34\u3046\u3001\u307e\u305f\u306f&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/saethre-chotzen-syndrome-eyelid-anomalies-guide\/\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":122,"featured_media":117054,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[1392],"tags":[],"class_list":["post-122422","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-1392"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/122422","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\/122"}],"replies":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/comments?post=122422"}],"version-history":[{"count":2,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/122422\/revisions"}],"predecessor-version":[{"id":126370,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/122422\/revisions\/126370"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/117054"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=122422"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=122422"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=122422"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}