{"id":122416,"date":"2026-01-13T15:38:44","date_gmt":"2026-01-13T06:38:44","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=122416"},"modified":"2026-03-31T16:54:32","modified_gmt":"2026-03-31T07:54:32","slug":"schinzel-giedion-syndrome-sgs-guide","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/schinzel-giedion-syndrome-sgs-guide\/","title":{"rendered":"\u30b7\u30f3\u30c4\u30a7\u30eb\u30fb\u30ae\u30fc\u30c7\u30a3\u30aa\u30f3\u75c7\u5019\u7fa4\uff08SGS\uff09"},"content":{"rendered":"\n<p>\u304a\u5b50\u69d8\u304c\u300c\u30b7\u30f3\u30c4\u30a7\u30eb\u30fb\u30ae\u30fc\u30c7\u30a3\u30aa\u30f3\u75c7\u5019\u7fa4\uff08Schinzel-Giedion syndrome\uff09\u300d\u3001\u7565\u3057\u3066\u300cSGS\u300d\u3068\u3044\u3046\u8a3a\u65ad\u3092\u53d7\u3051\u305f\u3068\u304d\u3001\u3054\u5bb6\u65cf\u306f\u805e\u3044\u305f\u3053\u3068\u306e\u306a\u3044\u75c5\u540d\u306b\u6238\u60d1\u3044\u3001\u30a4\u30f3\u30bf\u30fc\u30cd\u30c3\u30c8\u3067\u691c\u7d22\u3057\u3066\u3082\u65e5\u672c\u8a9e\u306e\u60c5\u5831\u304c\u6975\u7aef\u306b\u5c11\u306a\u3044\u3053\u3068\u306b\u4e0d\u5b89\u3092\u52df\u3089\u305b\u3066\u3044\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u300c\u91cd\u5ea6\u306e\u969c\u5bb3\u300d\u300c\u4e88\u5f8c\u304c\u53b3\u3057\u3044\u300d\u3068\u3044\u3063\u305f\u8a00\u8449\u3092\u76ee\u306b\u3057\u3066\u3001\u76ee\u306e\u524d\u304c\u771f\u3063\u6697\u306b\u306a\u308b\u3088\u3046\u306a\u601d\u3044\u3092\u3055\u308c\u305f\u65b9\u3082\u3044\u3089\u3063\u3057\u3083\u308b\u3067\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306f\u3001\u4e16\u754c\u3067\u3082\u5831\u544a\u6570\u304c\u6570\u767e\u4f8b\u7a0b\u5ea6\u3068\u3044\u3046\u975e\u5e38\u306b\u5e0c\u5c11\u306a\u75be\u60a3\uff08\u6307\u5b9a\u96e3\u75c5\uff09\u3067\u3059\u3002\u305d\u306e\u305f\u3081\u3001\u4e00\u822c\u306e\u5c0f\u5150\u79d1\u533b\u3067\u3082\u8a73\u3057\u304f\u77e5\u3063\u3066\u3044\u308b\u533b\u5e2b\u306f\u5c11\u306a\u304f\u3001\u8a3a\u65ad\u307e\u3067\u306b\u6642\u9593\u304c\u304b\u304b\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u8fd1\u5e74\u907a\u4f1d\u5b50\u89e3\u6790\u6280\u8853\u306e\u9032\u6b69\u306b\u3088\u308a\u3001\u539f\u56e0\u304c\u7279\u5b9a\u3055\u308c\u3001\u4e16\u754c\u4e2d\u3067\u7814\u7a76\u304c\u9032\u307f\u59cb\u3081\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u533b\u7642\u7684\u30b1\u30a2\u304c\u5fc5\u8981\u306a\u5834\u9762\u306f\u591a\u3044\u3067\u3059\u304c\u3001\u304a\u5b50\u69d8\u305f\u3061\u306f\u305d\u308c\u305e\u308c\u306e\u30da\u30fc\u30b9\u3067\u65e5\u3005\u3092\u751f\u304d\u3001\u3054\u5bb6\u65cf\u306b\u591a\u304f\u306e\u7b11\u9854\u3068\u6c17\u3065\u304d\u3092\u4e0e\u3048\u3066\u304f\u308c\u308b\u5b58\u5728\u3067\u3059\u3002<\/p>\n\n\n<!--nipt_mono-->\r\n<div 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class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-21\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/schinzel-giedion-syndrome-sgs-guide\/#3_%E8%85%8E%E8%87%93%E3%83%BB%E6%B3%8C%E5%B0%BF%E5%99%A8%E3%81%AE%E7%AE%A1%E7%90%86\" >3. \u814e\u81d3\u30fb\u6ccc\u5c3f\u5668\u306e\u7ba1\u7406<\/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\/schinzel-giedion-syndrome-sgs-guide\/#4_%E8%85%AB%E7%98%8D%E3%81%AE%E3%82%B9%E3%82%AF%E3%83%AA%E3%83%BC%E3%83%8B%E3%83%B3%E3%82%B0\" >4. \u816b\u760d\u306e\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0<\/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\/schinzel-giedion-syndrome-sgs-guide\/#5_%E3%83%AA%E3%83%8F%E3%83%93%E3%83%AA%E3%83%86%E3%83%BC%E3%82%B7%E3%83%A7%E3%83%B3%E3%81%A8%E7%99%82%E8%82%B2\" >5. \u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u3068\u7642\u80b2<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-24\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/schinzel-giedion-syndrome-sgs-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-25\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/schinzel-giedion-syndrome-sgs-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>\u30b7\u30f3\u30c4\u30a7\u30eb\u30fb\u30ae\u30fc\u30c7\u30a3\u30aa\u30f3\u75c7\u5019\u7fa4\uff08\u4ee5\u4e0b\u3001SGS\uff09\u306f\u30011978\u5e74\u306b\u30b9\u30a4\u30b9\u306e\u30b7\u30f3\u30c4\u30a7\u30eb\u535a\u58eb\u3068\u30ae\u30fc\u30c7\u30a3\u30aa\u30f3\u535a\u58eb\u306b\u3088\u3063\u3066\u521d\u3081\u3066\u5831\u544a\u3055\u308c\u305f\u3001\u751f\u307e\u308c\u3064\u304d\u306e\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306f\u3001\u4f53\u306e\u591a\u304f\u306e\u90e8\u5206\u306b\u5f71\u97ff\u3092\u53ca\u307c\u3059\u300c\u591a\u767a\u5947\u5f62\u75c7\u5019\u7fa4\u300d\u306e\u4e00\u3064\u3068\u3057\u3066\u5206\u985e\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4e3b\u306a\u7279\u5fb4\u3068\u3057\u3066\u3001\u72ec\u7279\u306a\u304a\u9854\u7acb\u3061\u3001\u9aa8\u683c\u306e\u7570\u5e38\u3001\u814e\u81d3\u3084\u5c3f\u8def\u306e\u7570\u5e38\u3001\u305d\u3057\u3066\u91cd\u5ea6\u306e\u7cbe\u795e\u904b\u52d5\u767a\u9054\u9045\u6ede\uff08\u5bdd\u305f\u304d\u308a\u306e\u72b6\u614b\u304c\u7d9a\u304f\u3053\u3068\u304c\u591a\u3044\uff09\u304c\u6319\u3052\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%80%8C%E7%A5%9E%E7%B5%8C%E5%A4%89%E6%80%A7%E7%96%BE%E6%82%A3%E3%80%8D%E3%81%A8%E3%81%97%E3%81%A6%E3%81%AE%E5%81%B4%E9%9D%A2\"><\/span><strong>\u300c\u795e\u7d4c\u5909\u6027\u75be\u60a3\u300d\u3068\u3057\u3066\u306e\u5074\u9762<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>SGS\u306e\u91cd\u8981\u306a\u7279\u5fb4\u306e\u4e00\u3064\u306b\u3001\u751f\u307e\u308c\u305f\u5f8c\u306e\u7d4c\u904e\u306b\u304a\u3044\u3066\u3001\u795e\u7d4c\u306e\u50cd\u304d\u304c\u5f90\u3005\u306b\u5f71\u97ff\u3092\u53d7\u3051\u308b\uff08\u795e\u7d4c\u5909\u6027\uff09\u3068\u3044\u3046\u70b9\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u308c\u306b\u3088\u308a\u3001\u96e3\u6cbb\u6027\u306e\u3066\u3093\u304b\u3093\u767a\u4f5c\u304c\u8d77\u304d\u305f\u308a\u3001\u4e00\u5ea6\u3067\u304d\u305f\u3053\u3068\u304c\u3067\u304d\u306a\u304f\u306a\u3063\u305f\u308a\uff08\u9000\u884c\uff09\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u305d\u306e\u305f\u3081\u3001\u5358\u306a\u308b\u4f53\u306e\u5f62\u306e\u75c5\u6c17\u3067\u306f\u306a\u304f\u3001\u8133\u3084\u795e\u7d4c\u306e\u30b1\u30a2\u304c\u751f\u6daf\u306b\u308f\u305f\u3063\u3066\u91cd\u8981\u306b\u306a\u308b\u75c5\u6c17\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%B8%8C%E5%B0%91%E6%80%A7%E3%81%A8SETBP1%E9%81%BA%E4%BC%9D%E5%AD%90\"><\/span><strong>\u5e0c\u5c11\u6027\u3068SETBP1\u907a\u4f1d\u5b50<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306f\u975e\u5e38\u306b\u7a00\u3067\u3001\u6b63\u78ba\u306a\u983b\u5ea6\u306f\u4e0d\u660e\u3067\u3059\u304c\u3001\u6570\u4e07\u301c\u6570\u5341\u4e07\u4eba\u306b1\u4eba\u7a0b\u5ea6\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u539f\u56e0\u3068\u306a\u308b\u306e\u306f\u300cSETBP1\u300d\u3068\u3044\u3046\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3067\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u304c\u7279\u5b9a\u3055\u308c\u305f\u306e\u306f2010\u5e74\u3068\u6bd4\u8f03\u7684\u6700\u8fd1\u306e\u3053\u3068\u3067\u3042\u308a\u3001\u73fe\u5728\u9032\u884c\u5f62\u3067\u65b0\u3057\u3044\u3053\u3068\u304c\u5206\u304b\u3063\u3066\u304d\u3066\u3044\u308b\u6bb5\u968e\u306e\u75be\u60a3\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\"><\/span><strong>\u4e3b\u306a\u75c7\u72b6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>SGS\u306e\u75c7\u72b6\u306f\u3001\u5168\u8eab\u306e\u81f3\u308b\u3068\u3053\u308d\u306b\u73fe\u308c\u307e\u3059\u3002\u751f\u307e\u308c\u305f\u76f4\u5f8c\u304b\u3089\u5206\u304b\u308b\u7279\u5fb4\u3082\u3042\u308c\u3070\u3001\u6210\u9577\u3068\u3068\u3082\u306b\u660e\u3089\u304b\u306b\u306a\u308b\u7279\u5fb4\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E7%89%B9%E5%BE%B4%E7%9A%84%E3%81%AA%E3%81%8A%E9%A1%94%E7%AB%8B%E3%81%A1%EF%BC%88%E9%A1%94%E8%B2%8C%EF%BC%89\"><\/span><strong>1. \u7279\u5fb4\u7684\u306a\u304a\u9854\u7acb\u3061\uff08\u9854\u8c8c\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>SGS\u306e\u8a3a\u65ad\u306e\u624b\u304c\u304b\u308a\u3068\u306a\u308b\u6700\u3082\u91cd\u8981\u306a\u7279\u5fb4\u3067\u3059\u3002\u591a\u304f\u306e\u304a\u5b50\u69d8\u306b\u5171\u901a\u3057\u305f\u3001\u5370\u8c61\u7684\u306a\u304a\u9854\u7acb\u3061\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4e2d\u9854\u9762\u4f4e\u5f62\u6210\uff08\u3061\u3085\u3046\u304c\u3093\u3081\u3093\u30fb\u3066\u3044\u3051\u3044\u305b\u3044\uff09<\/p>\n\n\n\n<p>\u9854\u306e\u4e2d\u592e\u90e8\u5206\uff08\u9f3b\u306e\u3042\u305f\u308a\uff09\u306e\u9aa8\u306e\u6210\u9577\u304c\u5f31\u304f\u3001\u9854\u5168\u4f53\u304c\u5e73\u5766\u3067\u3001\u5f15\u3063\u8fbc\u3093\u3060\u3088\u3046\u306b\u898b\u3048\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u524d\u982d\u90e8\u7a81\u51fa\u3068\u5927\u304d\u306a\u5927\u6cc9\u9580<\/p>\n\n\n\n<p>\u304a\u3067\u3053\u304c\u5e83\u304f\u3001\u524d\u306b\u51fa\u3066\u3044\u307e\u3059\u3002\u307e\u305f\u3001\u982d\u306e\u3066\u3063\u307a\u3093\u306b\u3042\u308b\u67d4\u3089\u304b\u3044\u90e8\u5206\uff08\u5927\u6cc9\u9580\uff09\u304c\u975e\u5e38\u306b\u5927\u304d\u304f\u3001\u9589\u3058\u308b\u306e\u304c\u9045\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u773c\u306e\u7279\u5fb4<\/p>\n\n\n\n<p>\u76ee\u304c\u6df1\u304f\u7aaa\u3093\u3067\u3044\u308b\uff08\u773c\u7403\u9665\u51f9\uff09\u3088\u3046\u306b\u898b\u3048\u305f\u308a\u3001\u76ee\u304c\u96e2\u308c\u3066\u3044\u305f\u308a\uff08\u773c\u9593\u958b\u96e2\uff09\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u591a\u6bdb<\/p>\n\n\n\n<p>\u304a\u3067\u3053\u3001\u80cc\u4e2d\u3001\u8155\u306a\u3069\u306b\u3001\u7523\u6bdb\u304c\u6fc3\u304f\u751f\u3048\u3066\u3044\u308b\u3053\u3068\uff08\u591a\u6bdb\u75c7\uff09\u304c\u3088\u304f\u898b\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u305d\u306e\u4ed6\u306e\u7279\u5fb4<\/p>\n\n\n\n<p>\u9f3b\u304c\u77ed\u3044\u3001\u8033\u306e\u4f4d\u7f6e\u304c\u4f4e\u3044\u3001\u820c\u304c\u5927\u304d\u3044\uff08\u5de8\u820c\uff09\u306a\u3069\u306e\u7279\u5fb4\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u304a\u9854\u7acb\u3061\u306f\u3001\u6210\u9577\u3068\u3068\u3082\u306b\u5909\u5316\u3057\u3066\u3044\u304f\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E7%A5%9E%E7%B5%8C%E3%83%BB%E7%99%BA%E9%81%94%E3%81%AE%E7%97%87%E7%8A%B6\"><\/span><strong>2. \u795e\u7d4c\u30fb\u767a\u9054\u306e\u75c7\u72b6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3054\u5bb6\u65cf\u304c\u6700\u3082\u5fc3\u914d\u3055\u308c\u308b\u90e8\u5206\u3067\u3042\u308a\u3001\u751f\u6d3b\u306e\u30b1\u30a2\u306e\u4e2d\u5fc3\u3068\u306a\u308b\u75c7\u72b6\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u91cd\u5ea6\u306e\u7cbe\u795e\u904b\u52d5\u767a\u9054\u9045\u6ede<\/p>\n\n\n\n<p>\u9996\u306e\u3059\u308f\u308a\u3001\u304a\u5ea7\u308a\u3001\u6b69\u884c\u306a\u3069\u306e\u904b\u52d5\u767a\u9054\u3084\u3001\u8a00\u8449\u306e\u767a\u9054\u304c\u975e\u5e38\u306b\u3086\u3063\u304f\u308a\u3001\u3042\u308b\u3044\u306f\u7372\u5f97\u304c\u96e3\u3057\u3044\u5834\u5408\u304c\u591a\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u591a\u304f\u306e\u304a\u5b50\u69d8\u306f\u3001\u81ea\u529b\u3067\u306e\u79fb\u52d5\u3084\u4f1a\u8a71\u304c\u96e3\u3057\u304f\u3001\u5168\u4ecb\u52a9\uff08\u5bdd\u305f\u304d\u308a\u306e\u72b6\u614b\uff09\u3067\u306e\u751f\u6d3b\u3068\u306a\u308a\u307e\u3059\u3002\u3057\u304b\u3057\u3001\u8074\u899a\u3084\u89e6\u899a\u3092\u901a\u3058\u3066\u3001\u3054\u5bb6\u65cf\u306e\u611b\u60c5\u3092\u611f\u3058\u53d6\u308b\u3053\u3068\u306f\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u96e3\u6cbb\u6027\u3066\u3093\u304b\u3093<\/p>\n\n\n\n<p>\u4e73\u5150\u671f\u65e9\u671f\u304b\u3089\u3001\u3051\u3044\u308c\u3093\u767a\u4f5c\uff08\u3066\u3093\u304b\u3093\uff09\u3092\u8d77\u3053\u3059\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u7279\u306b\u300c\u70b9\u982d\u3066\u3093\u304b\u3093\uff08\u30a6\u30a8\u30b9\u30c8\u75c7\u5019\u7fa4\uff09\u300d\u306e\u3088\u3046\u306a\u3001\u4f53\u3092\u4e00\u77ac\u6298\u308a\u66f2\u3052\u308b\u767a\u4f5c\u3084\u3001\u4f53\u306e\u4e00\u90e8\u304c\u30d4\u30af\u3064\u304f\u767a\u4f5c\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>SGS\u306e\u3066\u3093\u304b\u3093\u306f\u3001\u85ac\u304c\u52b9\u304d\u306b\u304f\u3044\uff08\u96e3\u6cbb\u6027\uff09\u50be\u5411\u304c\u3042\u308a\u3001\u8907\u6570\u306e\u6297\u3066\u3093\u304b\u3093\u85ac\u3092\u4f7f\u3063\u305f\u308a\u3001\u98df\u4e8b\u7642\u6cd5\u3092\u691c\u8a0e\u3057\u305f\u308a\u3059\u308b\u306a\u3069\u3001\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u306b\u5de5\u592b\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u523a\u6fc0\u3078\u306e\u904e\u654f\u6027<\/p>\n\n\n\n<p>\u97f3\u3084\u5149\u3001\u89e6\u3089\u308c\u308b\u3053\u3068\u306b\u5bfe\u3057\u3066\u654f\u611f\u3067\u3001\u9a5a\u304d\u3084\u3059\u304b\u3063\u305f\u308a\u3001\u6ce3\u304d\u6b62\u307e\u306a\u304b\u3063\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\uff08\u6613\u523a\u6fc0\u6027\uff09\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E8%85%8E%E8%87%93%E3%83%BB%E6%B3%8C%E5%B0%BF%E5%99%A8%E3%81%AE%E7%97%87%E7%8A%B6\"><\/span><strong>3. \u814e\u81d3\u30fb\u6ccc\u5c3f\u5668\u306e\u75c7\u72b6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8eab\u4f53\u7684\u306a\u5408\u4f75\u75c7\u306e\u4e2d\u3067\u3001\u6700\u3082\u983b\u5ea6\u304c\u9ad8\u304f\u6ce8\u610f\u304c\u5fc5\u8981\u306a\u3082\u306e\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u6c34\u814e\u75c7\uff08\u3059\u3044\u3058\u3093\u3057\u3087\u3046\uff09<\/p>\n\n\n\n<p>\u5c3f\u306e\u901a\u308a\u9053\u304c\u72ed\u304b\u3063\u305f\u308a\u3001\u9006\u6d41\u3057\u305f\u308a\u3059\u308b\u3053\u3068\u3067\u3001\u814e\u81d3\u306e\u4e2d\u306b\u5c3f\u304c\u305f\u307e\u308a\u3001\u814e\u81d3\u304c\u816b\u308c\u3066\u3057\u307e\u3046\u72b6\u614b\u3067\u3059\u3002SGS\u306e\u60a3\u8005\u3055\u3093\u306e\u7d0490%\u306b\u898b\u3089\u308c\u308b\u3068\u8a00\u308f\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u91cd\u75c7\u5316\u3059\u308b\u3068\u814e\u4e0d\u5168\u306b\u306a\u308b\u30ea\u30b9\u30af\u304c\u3042\u308b\u305f\u3081\u3001\u5b9a\u671f\u7684\u306a\u30a8\u30b3\u30fc\u691c\u67fb\u3084\u3001\u5834\u5408\u306b\u3088\u3063\u3066\u306f\u624b\u8853\u304c\u5fc5\u8981\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E9%AA%A8%E6%A0%BC%E3%81%AE%E7%97%87%E7%8A%B6\"><\/span><strong>4. \u9aa8\u683c\u306e\u75c7\u72b6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u624b\u8db3\u306e\u77ed\u7e2e<\/p>\n\n\n\n<p>\u8155\u3084\u8db3\u304c\u77ed\u3044\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u808b\u9aa8\u306e\u7570\u5e38<\/p>\n\n\n\n<p>\u808b\u9aa8\u304c\u5e45\u5e83\u3067\u3001\u80f8\u304c\u5e83\u3044\u5f62\u72b6\u3092\u3057\u3066\u3044\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5185\u53cd\u8db3\uff08\u306a\u3044\u306f\u3093\u305d\u304f\uff09<\/p>\n\n\n\n<p>\u8db3\u306e\u88cf\u304c\u5185\u5074\u3092\u5411\u3044\u3066\u3044\u308b\u72b6\u614b\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u982d\u84cb\u9aa8\u306e\u786c\u5316<\/p>\n\n\n\n<p>\u30ec\u30f3\u30c8\u30b2\u30f3\u3092\u64ae\u308b\u3068\u3001\u982d\u306e\u5e95\u306e\u9aa8\uff08\u982d\u84cb\u5e95\uff09\u304c\u5206\u539a\u304f\u786c\u304f\u306a\u3063\u3066\u3044\u308b\u7279\u5fb4\u7684\u306a\u6240\u898b\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"5_%E8%85%AB%E7%98%8D%E3%81%AE%E3%83%AA%E3%82%B9%E3%82%AF\"><\/span><strong>5. \u816b\u760d\u306e\u30ea\u30b9\u30af<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>SGS\u7279\u6709\u306e\u6ce8\u610f\u70b9\u3068\u3057\u3066\u3001\u7279\u5b9a\u306e\u816b\u760d\u304c\u3067\u304d\u3084\u3059\u3044\u3068\u3044\u3046\u30ea\u30b9\u30af\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4ed9\u5c3e\u90e8\u5947\u5f62\u816b\uff08\u305b\u3093\u3073\u3076\u30fb\u304d\u3051\u3044\u3057\u3085\uff09<\/p>\n\n\n\n<p>\u304a\u5c3b\u306e\u3042\u305f\u308a\uff08\u4ed9\u9aa8\u30fb\u5c3e\u9aa8\uff09\u306b\u3067\u304d\u308b\u816b\u760d\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u795e\u7d4c\u4e0a\u76ae\u6027\u816b\u760d<\/p>\n\n\n\n<p>\u8133\u3084\u795e\u7d4c\u306b\u3067\u304d\u308b\u816b\u760d\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u308c\u3089\u306f\u826f\u6027\u306e\u5834\u5408\u3082\u60aa\u6027\u306e\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u65e9\u671f\u767a\u898b\u306e\u305f\u3081\u306b\u5b9a\u671f\u7684\u306a\u691c\u67fb\uff08\u8840\u6db2\u691c\u67fb\u3084\u753b\u50cf\u691c\u67fb\uff09\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"6_%E6%91%82%E9%A3%9F%E3%83%BB%E5%91%BC%E5%90%B8%E3%81%AE%E5%95%8F%E9%A1%8C\"><\/span><strong>6. \u6442\u98df\u30fb\u547c\u5438\u306e\u554f\u984c<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u54fa\u4e73\u969c\u5bb3<\/p>\n\n\n\n<p>\u5438\u3046\u529b\u3084\u98f2\u307f\u8fbc\u3080\u529b\u304c\u5f31\u304f\u3001\u30df\u30eb\u30af\u3092\u3046\u307e\u304f\u98f2\u3081\u306a\u3044\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u8aa4\u56a5\uff08\u6c17\u7ba1\u306b\u5165\u3063\u3066\u3057\u307e\u3046\u3053\u3068\uff09\u306e\u30ea\u30b9\u30af\u3082\u9ad8\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u547c\u5438\u969c\u5bb3<\/p>\n\n\n\n<p>\u820c\u304c\u5927\u304d\u3044\u3053\u3068\u3084\u3001\u5589\u306e\u69cb\u9020\u306e\u554f\u984c\u3001\u3042\u308b\u3044\u306f\u4e2d\u67a2\u795e\u7d4c\u306e\u554f\u984c\u306b\u3088\u308a\u3001\u547c\u5438\u304c\u6d45\u304b\u3063\u305f\u308a\u3001\u6b62\u307e\u308a\u3084\u3059\u304b\u3063\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\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=\"SETBP1%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AE%E5%A4%89%E7%95%B0\"><\/span><strong>SETBP1\u907a\u4f1d\u5b50\u306e\u5909\u7570<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>SGS\u306e\u539f\u56e0\u306f\u300118\u756a\u67d3\u8272\u4f53\u306b\u3042\u308b\u300cSETBP1\uff08\u30bb\u30c3\u30c8\u30fb\u30d3\u30fc\u30fb\u30d4\u30fc\u30fb\u30ef\u30f3\uff09\u300d\u3068\u3044\u3046\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u907a\u4f1d\u5b50\u306f\u3001DNA\u306e\u60c5\u5831\u3092\u8aad\u307f\u53d6\u308b\u30b9\u30a4\u30c3\u30c1\u306e\u3088\u3046\u306a\u5f79\u5272\u3092\u3059\u308b\u30bf\u30f3\u30d1\u30af\u8cea\uff08DNA\u7d50\u5408\u30bf\u30f3\u30d1\u30af\u8cea\uff09\u306e\u8a2d\u8a08\u56f3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u6a5f\u80fd\u7372\u5f97\u578b\u5909\u7570\uff08Gain of function\uff09<\/p>\n\n\n\n<p>SGS\u3067\u8d77\u3053\u308b\u5909\u7570\u306f\u3001\u907a\u4f1d\u5b50\u306e\u50cd\u304d\u304c\u5931\u308f\u308c\u308b\u306e\u3067\u306f\u306a\u304f\u3001\u300c\u50cd\u304d\u3059\u304e\u3066\u3057\u307e\u3046\uff08\u6a5f\u80fd\u304c\u5f37\u304f\u306a\u308a\u3059\u304e\u308b\uff09\u300d\u30bf\u30a4\u30d7\u3067\u3059\u3002<\/p>\n\n\n\n<p>SETBP1\u30bf\u30f3\u30d1\u30af\u8cea\u304c\u5206\u89e3\u3055\u308c\u306b\u304f\u304f\u306a\u308a\u3001\u7d30\u80de\u306e\u4e2d\u306b\u904e\u5270\u306b\u6e9c\u307e\u3063\u3066\u3057\u307e\u3046\u3053\u3068\u3067\u3001\u8133\u3084\u814e\u81d3\u3001\u9aa8\u306e\u5f62\u6210\u306b\u60aa\u5f71\u97ff\u3092\u53ca\u307c\u3059\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%AA%81%E7%84%B6%E5%A4%89%E7%95%B0%EF%BC%88de_novo%E5%A4%89%E7%95%B0%EF%BC%89\"><\/span><strong>\u7a81\u7136\u5909\u7570\uff08de novo\u5909\u7570\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>SGS\u306e\u60a3\u8005\u3055\u3093\u306e\u307b\u307c\u5168\u54e1\u304c\u3001\u300cde novo\uff08\u30c7\u30fb\u30ce\u30dc\uff09\u300d\u3068\u547c\u3070\u308c\u308b\u7a81\u7136\u5909\u7570\u3067\u767a\u75c7\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u308c\u306f\u3001\u7cbe\u5b50\u3084\u5375\u5b50\u304c\u4f5c\u3089\u308c\u308b\u904e\u7a0b\u3001\u3042\u308b\u3044\u306f\u53d7\u7cbe\u5f8c\u306e\u7d30\u80de\u5206\u88c2\u306e\u975e\u5e38\u306b\u65e9\u3044\u6bb5\u968e\u3067\u3001\u5076\u7136SETBP1\u907a\u4f1d\u5b50\u306b\u5909\u5316\u304c\u8d77\u304d\u305f\u3082\u306e\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3054\u4e21\u89aa\u306e\u907a\u4f1d\u5b50\u306b\u306f\u7570\u5e38\u304c\u306a\u3044\u30b1\u30fc\u30b9\u304c\u307b\u3068\u3093\u3069\u3067\u3059\u3002\u3064\u307e\u308a\u3001\u8ab0\u306b\u3067\u3082\u8d77\u3053\u308a\u3046\u308b\u3001\u81ea\u7136\u306e\u78ba\u7387\u7684\u306a\u73fe\u8c61\u3067\u3042\u308a\u3001\u9632\u3050\u3053\u3068\u306f\u73fe\u4ee3\u306e\u533b\u5b66\u3067\u306f\u4e0d\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n<!--nipt_mono-->\r\n<div class=\"nipt-mono\">\r\n    <div class=\"nipt-mono-btn\">\r\n        <a href=\"\/nipt\/nipt-mono\/\">\r\n            <img decoding=\"async\" loading=\"lazy\" src=\"\/nipt\/wp-content\/uploads\/2026\/03\/NIPT-MONO.webp\" alt=\"NIPT-MONO\u3067\u8abf\u3079\u3089\u308c\u307e\u3059\">\r\n         <\/a>\r\n    <\/div>\r\n<\/div>\r\n\r\n<style>\r\n.nipt-mono {\r\n    text-align: center; \/* \u89aa\u8981\u7d20\u3067\u6a2a\u4e2d\u592e *\/\r\n}\r\n.nipt-mono a img {\r\n    display: inline-block; \/* \u753b\u50cf\u3092\u30a4\u30f3\u30e9\u30a4\u30f3\u30d6\u30ed\u30c3\u30af\u5316\u3057\u3066 text-align \u306b\u53cd\u6620 *\/\r\n    width: 333px;\r\n}\r\n<\/style>\r\n<!--\/nipt_mono-->\r\n\r\n\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"428\" src=\"\/nipt\/wp-content\/uploads\/2026\/01\/3542764_s.webp\" alt=\"\u8d64\u3061\u3083\u3093\" class=\"wp-image-121583\"\/><\/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\u7279\u5fb4\u7684\u306a\u898b\u305f\u76ee\u3084\u75c7\u72b6\u306e\u7d44\u307f\u5408\u308f\u305b\u304b\u3089\u7591\u308f\u308c\u3001\u6700\u7d42\u7684\u306b\u306f\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u3067\u78ba\u5b9a\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E8%87%A8%E5%BA%8A%E8%A8%BA%E6%96%AD\"><\/span><strong>1. \u81e8\u5e8a\u8a3a\u65ad<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u533b\u5e2b\u306f\u3001\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u7279\u5fb4\u306e\u7d44\u307f\u5408\u308f\u305b\u304c\u3042\u308b\u304b\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4e2d\u9854\u9762\u4f4e\u5f62\u6210\u306a\u3069\u306e\u304a\u9854\u7acb\u3061<\/p>\n\n\n\n<p>\u91cd\u5ea6\u306e\u767a\u9054\u9045\u6ede<\/p>\n\n\n\n<p>\u6c34\u814e\u75c7<\/p>\n\n\n\n<p>\u9aa8\u683c\u306e\u7279\u5fb4<\/p>\n\n\n\n<p>\u3053\u308c\u3089\u304c\u63c3\u3063\u3066\u3044\u308b\u5834\u5408\u3001SGS\u304c\u5f37\u304f\u7591\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E7%94%BB%E5%83%8F%E6%A4%9C%E6%9F%BB\"><\/span><strong>2. \u753b\u50cf\u691c\u67fb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u30ec\u30f3\u30c8\u30b2\u30f3<\/p>\n\n\n\n<p>\u982d\u84cb\u5e95\u306e\u9aa8\u786c\u5316\u3084\u3001\u808b\u9aa8\u306e\u5e45\u5e83\u3055\u306a\u3069\u3001SGS\u306b\u7279\u5fb4\u7684\u306a\u9aa8\u306e\u6240\u898b\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8d85\u97f3\u6ce2\uff08\u30a8\u30b3\u30fc\uff09\u30fbMRI<\/p>\n\n\n\n<p>\u814e\u81d3\u306e\u6c34\u814e\u75c7\u306e\u6709\u7121\u3084\u3001\u8133\u306e\u69cb\u9020\uff08\u8133\u5ba4\u62e1\u5927\u3084\u8133\u6881\u6b20\u640d\u306a\u3069\uff09\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002\u816b\u760d\u306e\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3082\u884c\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E9%81%BA%E4%BC%9D%E5%AD%A6%E7%9A%84%E6%A4%9C%E6%9F%BB%EF%BC%88%E7%A2%BA%E5%AE%9A%E8%A8%BA%E6%96%AD%EF%BC%89\"><\/span><strong>3. \u907a\u4f1d\u5b66\u7684\u691c\u67fb\uff08\u78ba\u5b9a\u8a3a\u65ad\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8840\u6db2\u691c\u67fb\u3067DNA\u3092\u8abf\u3079\u3001SETBP1\u907a\u4f1d\u5b50\u306e\u7279\u5b9a\u306e\u90e8\u5206\uff08\u30db\u30c3\u30c8\u30b9\u30dd\u30c3\u30c8\u3068\u547c\u3070\u308c\u308b\u3001\u5909\u7570\u304c\u8d77\u304d\u3084\u3059\u3044\u5834\u6240\uff09\u306b\u5909\u5316\u304c\u3042\u308b\u304b\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u308c\u306b\u3088\u308a\u8a3a\u65ad\u304c\u78ba\u5b9a\u3057\u307e\u3059\u3002\u78ba\u5b9a\u8a3a\u65ad\u306f\u3001\u5c06\u6765\u306e\u4e88\u5f8c\u4e88\u6e2c\u3084\u3001\u9069\u5207\u306a\u533b\u7642\u30b1\u30a2\u306e\u8a08\u753b\u3092\u7acb\u3066\u308b\u305f\u3081\u306b\u975e\u5e38\u306b\u91cd\u8981\u3067\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>\u6b8b\u5ff5\u306a\u304c\u3089\u3001SETBP1\u907a\u4f1d\u5b50\u306e\u5909\u7570\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\u300c\u6cbb\u7642\u6cd5\u304c\u306a\u3044\u300d\uff1d\u300c\u4f55\u3082\u3067\u304d\u306a\u3044\u300d\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>SGS\u306e\u6cbb\u7642\u306f\u3001\u305d\u308c\u305e\u308c\u306e\u75c7\u72b6\u3092\u548c\u3089\u3052\u3001\u5408\u4f75\u75c7\u3092\u9632\u304e\u3001\u304a\u5b50\u69d8\u304c\u5feb\u9069\u306b\u904e\u3054\u305b\u308b\u3088\u3046\u306b\u3059\u308b\u300c\u5bfe\u75c7\u7642\u6cd5\u300d\u3068\u300c\u7de9\u548c\u30b1\u30a2\u7684\u30a2\u30d7\u30ed\u30fc\u30c1\u300d\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E3%81%A6%E3%82%93%E3%81%8B%E3%82%93%E3%81%AE%E7%AE%A1%E7%90%86\"><\/span><strong>1. \u3066\u3093\u304b\u3093\u306e\u7ba1\u7406<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>SGS\u306e\u30b1\u30a2\u306b\u304a\u3044\u3066\u6700\u3082\u96e3\u3057\u3044\u90e8\u5206\u306e\u4e00\u3064\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u6297\u3066\u3093\u304b\u3093\u85ac<\/p>\n\n\n\n<p>\u767a\u4f5c\u306e\u7a2e\u985e\u306b\u5408\u308f\u305b\u3066\u3001\u69d8\u3005\u306a\u304a\u85ac\u3092\u8abf\u6574\u3057\u307e\u3059\u30021\u7a2e\u985e\u3060\u3051\u3067\u306a\u304f\u3001\u8907\u6570\u3092\u7d44\u307f\u5408\u308f\u305b\u308b\u3053\u3068\u3082\u591a\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u30b1\u30c8\u30f3\u98df\u7642\u6cd5<\/p>\n\n\n\n<p>\u85ac\u304c\u52b9\u304d\u306b\u304f\u3044\u5834\u5408\u3001\u7279\u6b8a\u306a\u30df\u30eb\u30af\u306a\u3069\u3092\u4f7f\u3063\u305f\u98df\u4e8b\u7642\u6cd5\u304c\u52b9\u679c\u3092\u793a\u3059\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_%E5%91%BC%E5%90%B8%E3%81%A8%E6%A0%84%E9%A4%8A%E3%81%AE%E7%AE%A1%E7%90%86\"><\/span><strong>2. \u547c\u5438\u3068\u6804\u990a\u306e\u7ba1\u7406<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u304a\u5b50\u69d8\u306e\u547d\u3068\u6210\u9577\u3092\u652f\u3048\u308b\u571f\u53f0\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u7d4c\u7ba1\u6804\u990a\u30fb\u80c3\u308d\u3046<\/p>\n\n\n\n<p>\u53e3\u304b\u3089\u5b89\u5168\u306b\u5341\u5206\u306a\u91cf\u3092\u98df\u3079\u308b\u3053\u3068\u304c\u96e3\u3057\u3044\u5834\u5408\u3001\u9f3b\u304b\u3089\u306e\u30c1\u30e5\u30fc\u30d6\u3084\u3001\u304a\u8179\u306b\u76f4\u63a5\u6804\u990a\u3092\u5165\u308c\u308b\u300c\u80c3\u308d\u3046\u300d\u306e\u624b\u8853\u3092\u884c\u3046\u3053\u3068\u304c\u63a8\u5968\u3055\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u80c3\u308d\u3046\u306f\u300c\u98df\u3079\u308b\u697d\u3057\u307f\u3092\u596a\u3046\u300d\u3082\u306e\u3067\u306f\u306a\u304f\u3001\u300c\u5b89\u5b9a\u3057\u305f\u6804\u990a\u3092\u78ba\u4fdd\u3057\u3001\u8aa4\u56a5\u6027\u80ba\u708e\u3092\u9632\u304e\u3001\u4f53\u3092\u697d\u306b\u3059\u308b\u300d\u305f\u3081\u306e\u524d\u5411\u304d\u306a\u9078\u629e\u80a2\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u547c\u5438\u30b5\u30dd\u30fc\u30c8<\/p>\n\n\n\n<p>\u9178\u7d20\u5438\u5165\u3084\u3001\u5438\u5f15\u5668\u306b\u3088\u308b\u75f0\u306e\u9664\u53bb\u3001\u5834\u5408\u306b\u3088\u3063\u3066\u306f\u4eba\u5de5\u547c\u5438\u5668\u306e\u4f7f\u7528\u306a\u3069\u3001\u72b6\u614b\u306b\u5408\u308f\u305b\u305f\u30b5\u30dd\u30fc\u30c8\u3092\u884c\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E8%85%8E%E8%87%93%E3%83%BB%E6%B3%8C%E5%B0%BF%E5%99%A8%E3%81%AE%E7%AE%A1%E7%90%86\"><\/span><strong>3. \u814e\u81d3\u30fb\u6ccc\u5c3f\u5668\u306e\u7ba1\u7406<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6c34\u814e\u75c7\u306b\u5bfe\u3057\u3066\u306f\u3001\u5b9a\u671f\u7684\u306a\u30a8\u30b3\u30fc\u691c\u67fb\u304c\u5fc5\u8981\u3067\u3059\u3002\u5c3f\u8def\u611f\u67d3\u75c7\uff08\u767a\u71b1\u306e\u539f\u56e0\u306b\u306a\u308a\u307e\u3059\uff09\u3092\u8d77\u3053\u3057\u3084\u3059\u3044\u305f\u3081\u3001\u4e88\u9632\u7684\u306b\u6297\u751f\u7269\u8cea\u3092\u98f2\u3093\u3060\u308a\u3001\u611f\u67d3\u6642\u306f\u65e9\u3081\u306b\u6cbb\u7642\u3057\u305f\u308a\u3057\u307e\u3059\u3002\u5c3f\u306e\u6d41\u308c\u3092\u826f\u304f\u3059\u308b\u624b\u8853\u304c\u5fc5\u8981\u306b\u306a\u308b\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_%E8%85%AB%E7%98%8D%E3%81%AE%E3%82%B9%E3%82%AF%E3%83%AA%E3%83%BC%E3%83%8B%E3%83%B3%E3%82%B0\"><\/span><strong>4. \u816b\u760d\u306e\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u4ed9\u5c3e\u90e8\u5947\u5f62\u816b\u306a\u3069\u306e\u816b\u760d\u304c\u3067\u304d\u3066\u3044\u306a\u3044\u304b\u3001\u5b9a\u671f\u7684\u306b\u8840\u6db2\u691c\u67fb\uff08\u816b\u760d\u30de\u30fc\u30ab\u30fc\uff09\u3084\u753b\u50cf\u691c\u67fb\u3092\u884c\u3044\u307e\u3059\u3002\u65e9\u671f\u306b\u898b\u3064\u3051\u308c\u3070\u3001\u624b\u8853\u3067\u53d6\u308a\u9664\u304f\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"5_%E3%83%AA%E3%83%8F%E3%83%93%E3%83%AA%E3%83%86%E3%83%BC%E3%82%B7%E3%83%A7%E3%83%B3%E3%81%A8%E7%99%82%E8%82%B2\"><\/span><strong>5. \u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u3068\u7642\u80b2<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8eab\u4f53\u7684\u306a\u6a5f\u80fd\u56de\u5fa9\u3060\u3051\u3067\u306a\u304f\u3001\u611f\u899a\u7d71\u5408\uff08\u611f\u899a\u904a\u3073\uff09\u3084\u3001\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u306e\u5f62\u6210\u3092\u76ee\u6307\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7406\u5b66\u7642\u6cd5\uff08PT\uff09\uff1a\u95a2\u7bc0\u304c\u56fa\u307e\u3089\u306a\u3044\u3088\u3046\u306b\u52d5\u304b\u3057\u305f\u308a\u3001\u697d\u306a\u59ff\u52e2\uff08\u30dd\u30b8\u30b7\u30e7\u30cb\u30f3\u30b0\uff09\u3092\u6574\u3048\u305f\u308a\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u611f\u899a\u3078\u306e\u30a2\u30d7\u30ed\u30fc\u30c1\uff1a\u97f3\u697d\u3001\u5149\u3001\u89e6\u308c\u5408\u3044\u306a\u3069\u3001\u304a\u5b50\u69d8\u304c\u5fc3\u5730\u3088\u3044\u3068\u611f\u3058\u308b\u523a\u6fc0\u3092\u63a2\u3057\u3001\u53cd\u5fdc\u3092\u5f15\u304d\u51fa\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>SGS\u306f\u91cd\u7be4\u306a\u75be\u60a3\u3067\u3042\u308a\u3001\u4ee5\u524d\u306f\u300c\u4e73\u5e7c\u5150\u671f\u306b\u4ea1\u304f\u306a\u308b\u3053\u3068\u304c\u591a\u3044\u300d\u3068\u3055\u308c\u3066\u3044\u307e\u3057\u305f\u3002\u547c\u5438\u4e0d\u5168\u3001\u611f\u67d3\u75c7\uff08\u80ba\u708e\u306a\u3069\uff09\u3001\u96e3\u6cbb\u6027\u3066\u3093\u304b\u3093\u3001\u816b\u760d\u306a\u3069\u304c\u751f\u547d\u4e88\u5f8c\u306b\u5f71\u97ff\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u8fd1\u5e74\u306e\u533b\u7642\u7684\u30b1\u30a2\uff08\u5728\u5b85\u9178\u7d20\u3001\u80c3\u308d\u3046\u3001\u611f\u67d3\u75c7\u7ba1\u7406\u306a\u3069\uff09\u306e\u9032\u6b69\u306b\u3088\u308a\u3001\u5b66\u7ae5\u671f\u3084\u305d\u308c\u4ee5\u964d\u307e\u3067\u751f\u5b58\u3059\u308b\u304a\u5b50\u69d8\u304c\u5897\u3048\u3066\u304d\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4e88\u5f8c\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u3054\u5bb6\u65cf\u3068\u5171\u306b\u81ea\u5b85\u3067\u751f\u6d3b\u3057\u3001\u8a2a\u554f\u770b\u8b77\u3084\u8a2a\u554f\u8a3a\u7642\u3092\u5229\u7528\u3057\u306a\u304c\u3089\u3001\u7a4f\u3084\u304b\u306a\u6642\u9593\u3092\u7a4d\u307f\u91cd\u306d\u3066\u3044\u308b\u30b1\u30fc\u30b9\u306f\u5c11\u306a\u304f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u65e5\u3005\u306e\u751f\u6d3b\u3067\u306f\u3001\u304a\u98a8\u5442\u306b\u5165\u308c\u305f\u308a\u3001\u6563\u6b69\u306b\u51fa\u304b\u3051\u305f\u308a\u3001\u5144\u5f1f\u3068\u904a\u3093\u3060\u308a\u3068\u3001\u666e\u901a\u306e\u5b50\u80b2\u3066\u3068\u540c\u3058\u3088\u3046\u306a\u6642\u9593\u306e\u4e2d\u306b\u3001\u533b\u7642\u7684\u30b1\u30a2\u304c\u7d44\u307f\u8fbc\u307e\u308c\u308b\u5f62\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u304a\u5b50\u69d8\u306f\u8a00\u8449\u3092\u8a71\u305b\u306a\u304f\u3066\u3082\u3001\u8868\u60c5\u3084\u4f53\u306e\u7dca\u5f35\u5177\u5408\u3001\u58f0\u306e\u51fa\u3057\u65b9\u3067\u3001\u5feb\u30fb\u4e0d\u5feb\u3092\u4f1d\u3048\u3066\u304f\u308c\u308b\u3088\u3046\u306b\u306a\u308a\u307e\u3059\u3002\u3054\u5bb6\u65cf\u306f\u3001\u305d\u306e\u300c\u5c0f\u3055\u306a\u30b5\u30a4\u30f3\u300d\u306e\u5c02\u9580\u5bb6\u306b\u306a\u3063\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\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>\u30b7\u30f3\u30c4\u30a7\u30eb\u30fb\u30ae\u30fc\u30c7\u30a3\u30aa\u30f3\u75c7\u5019\u7fa4\uff08SGS\uff09\u306f\u3001SETBP1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308b\u5e0c\u5c11\u75be\u60a3\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u7279\u5fb4\u7684\u306a\u304a\u9854\u7acb\u3061\u3001\u91cd\u5ea6\u306e\u767a\u9054\u9045\u6ede\u3001\u6c34\u814e\u75c7\u3001\u96e3\u6cbb\u6027\u3066\u3093\u304b\u3093\u304c\u4e3b\u306a\u75c7\u72b6\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u539f\u56e0\u306f\u7a81\u7136\u5909\u7570\u3067\u3042\u308a\u3001\u89aa\u306e\u8cac\u4efb\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li>\u6839\u672c\u6cbb\u7642\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u80c3\u308d\u3046\u3084\u3066\u3093\u304b\u3093\u7ba1\u7406\u306a\u3069\u306e\u5bfe\u75c7\u7642\u6cd5\u3067QOL\uff08\u751f\u6d3b\u306e\u8cea\uff09\u3092\u9ad8\u3081\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u816b\u760d\u306e\u30ea\u30b9\u30af\u304c\u3042\u308b\u305f\u3081\u3001\u5b9a\u671f\u7684\u306a\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u691c\u67fb\u304c\u91cd\u8981\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","protected":false},"excerpt":{"rendered":"\u304a\u5b50\u69d8\u304c\u300c\u30b7\u30f3\u30c4\u30a7\u30eb\u30fb\u30ae\u30fc\u30c7\u30a3\u30aa\u30f3\u75c7\u5019\u7fa4&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/schinzel-giedion-syndrome-sgs-guide\/\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":122,"featured_media":120157,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[1392],"tags":[],"class_list":["post-122416","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\/122416","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=122416"}],"version-history":[{"count":2,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/122416\/revisions"}],"predecessor-version":[{"id":126372,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/122416\/revisions\/126372"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/120157"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=122416"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=122416"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=122416"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}