{"id":121672,"date":"2026-01-07T15:54:58","date_gmt":"2026-01-07T06:54:58","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=121672"},"modified":"2026-07-26T05:49:48","modified_gmt":"2026-07-25T20:49:48","slug":"greig-cephalopolysyndactyly-syndrome-guide","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/greig-cephalopolysyndactyly-syndrome-guide\/","title":{"rendered":"\u30b0\u30ec\u30a4\u30b0\u982d\u84cb\u591a\u6307\u5408\u6307\u75c7\u5019\u7fa4\uff08GCPS\uff09"},"content":{"rendered":"\n<p><strong>\u304a\u5b50\u3055\u307e\u304c\u300c\u30b0\u30ec\u30a4\u30b0\u982d\u84cb\u591a\u6307\u5408\u6307\u75c7\u5019\u7fa4\uff08GCPS\uff09\u300d\u3068\u8a3a\u65ad\u3055\u308c\u3001\u805e\u304d\u6163\u308c\u306a\u3044\u75c5\u540d\u306e\u9577\u3055\u306b\u6238\u60d1\u3063\u3066\u3044\u3089\u3063\u3057\u3083\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002<\/strong><\/p>\n\n\n\n<p><strong>\u7d50\u8ad6\u304b\u3089\u304a\u4f1d\u3048\u3057\u307e\u3059\u3002GCPS\u306f\u30017\u756a\u67d3\u8272\u4f53\u306b\u3042\u308bGLI3\u907a\u4f1d\u5b50\u306e\u5909\u5316\u306b\u3088\u3063\u3066\u8d77\u3053\u308b\u5148\u5929\u6027\u75be\u60a3\u3067\u3001\u624b\u8db3\u306e\u6307\u306e\u6570\u3084\u5f62\u3001\u982d\u306e\u5f62\u306b\u7279\u5fb4\u304c\u73fe\u308c\u307e\u3059\u3002<\/strong>\u77e5\u80fd\u306e\u767a\u9054\u306f\u591a\u304f\u306e\u5834\u5408\u3067\u554f\u984c\u304c\u306a\u304f\u3001\u9069\u5207\u306a\u6642\u671f\u306b\u624b\u8853\u3092\u53d7\u3051\u308b\u3053\u3068\u3067\u3001\u904b\u52d5\u6a5f\u80fd\u3082\u3057\u3063\u304b\u308a\u7372\u5f97\u3067\u304d\u308b\u304a\u5b50\u3055\u307e\u304c\u307b\u3068\u3093\u3069\u3067\u3059\u3002\u540d\u524d\u306f\u9577\u304f\u8907\u96d1\u3067\u3059\u304c\u3001\u4e00\u3064\u305a\u3064\u5206\u89e3\u3059\u308c\u3070\u6016\u3044\u3082\u306e\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u8a18\u4e8b\u3067\u306f\u3001GCPS\u306e\u75c7\u72b6\u3084\u539f\u56e0\u3068\u306a\u308bGLI3\u907a\u4f1d\u5b50\u306e\u50cd\u304d\u3001\u8a3a\u65ad\u3068\u691c\u67fb\u306e\u6d41\u308c\u3001\u6cbb\u7642\u306e\u6642\u671f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u30fbNIPT\u3068\u306e\u95a2\u4fc2\u3001\u305d\u3057\u3066\u3054\u5bb6\u65cf\u3078\u306e\u30e1\u30c3\u30bb\u30fc\u30b8\u307e\u3067\u3092\u6574\u7406\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7c73\u56fd\u56fd\u7acb\u885b\u751f\u7814\u7a76\u6240\uff08NIH\uff09\u306e\u5e0c\u5c11\u75be\u60a3\u60c5\u5831\u30bb\u30f3\u30bf\u30fcGARD\u3001\u907a\u4f1d\u6027\u75be\u60a3\u306e\u5c02\u9580\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9GeneReviews\u3001\u516c\u76ca\u793e\u56e3\u6cd5\u4eba\u65e5\u672c\u5f62\u6210\u5916\u79d1\u5b66\u4f1a\u306a\u3069\u306e\u516c\u7684\u6a5f\u95a2\u30fb\u5b66\u8853\u60c5\u5831\u306b\u3082\u3068\u3065\u3044\u3066\u304a\u4f1d\u3048\u3057\u307e\u3059\u3002\u65ad\u7247\u7684\u306a\u60c5\u5831\u306b\u632f\u308a\u56de\u3055\u308c\u305a\u3001\u4e00\u3064\u305a\u3064\u78ba\u8a8d\u3057\u3066\u3044\u304d\u307e\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<div class=\"info-box\" style=\"margin:1.5em 0;padding:1.2em 1.4em;background:#f3f8ff;border-left:5px solid #5b9bd5;border-radius:8px;\">\n<p style=\"font-weight:bold;margin-bottom:0.6em;\">\ud83d\udca1 \u3053\u306e\u8a18\u4e8b\u3067\u308f\u304b\u308b\u3053\u3068<\/p>\n<ul style=\"margin:0;padding-left:1.2em;\">\n<li>GCPS\u304c\u3069\u306e\u3088\u3046\u306a\u75c5\u6c17\u3067\u3001\u540d\u524d\u306e\u7531\u6765\u306f\u4f55\u304b<\/li>\n<li>\u591a\u6307\u75c7\u30fb\u5408\u6307\u75c7\u30fb\u5927\u982d\u75c7\u3092\u4e2d\u5fc3\u3068\u3057\u305f\u4e3b\u306a\u75c7\u72b6\u306e\u7279\u5fb4<\/li>\n<li>\u539f\u56e0\u3068\u306a\u308bGLI3\u907a\u4f1d\u5b50\u306e\u5f79\u5272\u3068\u907a\u4f1d\u5f62\u5f0f\uff08\u9855\u6027\u907a\u4f1d\u30fb\u65b0\u751f\u7a81\u7136\u5909\u7570\uff09<\/li>\n<li>\u8a3a\u65ad\u306e\u6d41\u308c\u3068\u3001\u4f3c\u305f\u75c5\u6c17\u3068\u306e\u898b\u5206\u3051\u65b9<\/li>\n<li>\u624b\u8db3\u306e\u624b\u8853\u3092\u53d7\u3051\u308b\u6642\u671f\u306e\u76ee\u5b89\u3068\u751f\u6d3b\u3067\u306e\u5de5\u592b<\/li>\n<li><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u30fbNIPT\u3067\u3053\u306e\u75c5\u6c17\u304c\u5bfe\u8c61\u306b\u306a\u308b\u304b\u306a\u3089\u306a\u3044\u304b<\/li>\n<\/ul>\n<\/div>\n\n\n\n\n\n\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_86 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">\u76ee\u6b21<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/greig-cephalopolysyndactyly-syndrome-guide\/#1_%E3%82%B0%E3%83%AC%E3%82%A4%E3%82%B0%E9%A0%AD%E8%93%8B%E5%A4%9A%E6%8C%87%E5%90%88%E6%8C%87%E7%97%87%E5%80%99%E7%BE%A4%EF%BC%88GCPS%EF%BC%89%E3%81%A8%E3%81%AF\" >1. \u30b0\u30ec\u30a4\u30b0\u982d\u84cb\u591a\u6307\u5408\u6307\u75c7\u5019\u7fa4\uff08GCPS\uff09\u3068\u306f<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/greig-cephalopolysyndactyly-syndrome-guide\/#%E5%90%8D%E5%89%8D%E3%81%AE%E7%94%B1%E6%9D%A5%E3%81%A8%E6%84%8F%E5%91%B3\" >\u540d\u524d\u306e\u7531\u6765\u3068\u610f\u5473<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/greig-cephalopolysyndactyly-syndrome-guide\/#2_%E4%B8%BB%E3%81%AA%E7%97%87%E7%8A%B6%EF%BC%9A%E6%89%8B%E8%B6%B3%E3%83%BB%E9%A0%AD%E9%83%A8%E3%83%BB%E7%99%BA%E9%81%94%E3%81%AE3%E3%81%A4%E3%81%AE%E7%89%B9%E5%BE%B4\" >2. \u4e3b\u306a\u75c7\u72b6\uff1a\u624b\u8db3\u30fb\u982d\u90e8\u30fb\u767a\u9054\u306e3\u3064\u306e\u7279\u5fb4<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/greig-cephalopolysyndactyly-syndrome-guide\/#%E2%91%A0%E6%89%8B%E8%B6%B3%E3%81%AE%E7%89%B9%E5%BE%B4%EF%BC%88%E5%A4%9A%E6%8C%87%E7%97%87%E3%83%BB%E5%90%88%E6%8C%87%E7%97%87%EF%BC%89\" >\u2460\u624b\u8db3\u306e\u7279\u5fb4\uff08\u591a\u6307\u75c7\u30fb\u5408\u6307\u75c7\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/greig-cephalopolysyndactyly-syndrome-guide\/#%E2%91%A1%E9%A0%AD%E9%83%A8%E3%83%BB%E9%A1%94%E7%AB%8B%E3%81%A1%E3%81%AE%E7%89%B9%E5%BE%B4\" >\u2461\u982d\u90e8\u30fb\u9854\u7acb\u3061\u306e\u7279\u5fb4<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/greig-cephalopolysyndactyly-syndrome-guide\/#%E2%91%A2%E7%99%BA%E9%81%94%E3%81%A8%E7%9F%A5%E8%83%BD%EF%BC%88%E3%81%94%E5%AE%B6%E6%97%8F%E3%81%8C%E6%9C%80%E3%82%82%E6%B0%97%E3%81%AB%E3%81%95%E3%82%8C%E3%82%8B%E7%82%B9%EF%BC%89\" >\u2462\u767a\u9054\u3068\u77e5\u80fd\uff08\u3054\u5bb6\u65cf\u304c\u6700\u3082\u6c17\u306b\u3055\u308c\u308b\u70b9\uff09<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/greig-cephalopolysyndactyly-syndrome-guide\/#3_%E5%8E%9F%E5%9B%A0%EF%BC%9AGLI3%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%A8%E9%81%BA%E4%BC%9D%E3%81%AE%E3%81%97%E3%81%8F%E3%81%BF\" >3. \u539f\u56e0\uff1aGLI3\u907a\u4f1d\u5b50\u3068\u907a\u4f1d\u306e\u3057\u304f\u307f<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/greig-cephalopolysyndactyly-syndrome-guide\/#GLI3%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AE%E5%BD%B9%E5%89%B2\" >GLI3\u907a\u4f1d\u5b50\u306e\u5f79\u5272<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/greig-cephalopolysyndactyly-syndrome-guide\/#%E9%81%BA%E4%BC%9D%E3%81%AE%E3%81%97%E3%81%8F%E3%81%BF%EF%BC%9A%E9%A1%95%E6%80%A7%E9%81%BA%E4%BC%9D%E3%81%A8%E6%96%B0%E7%94%9F%E7%AA%81%E7%84%B6%E5%A4%89%E7%95%B0\" >\u907a\u4f1d\u306e\u3057\u304f\u307f\uff1a\u9855\u6027\u907a\u4f1d\u3068\u65b0\u751f\u7a81\u7136\u5909\u7570<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/greig-cephalopolysyndactyly-syndrome-guide\/#4_%E8%A8%BA%E6%96%AD%E3%81%A8%E6%A4%9C%E6%9F%BB%E3%81%AE%E6%B5%81%E3%82%8C\" >4. \u8a3a\u65ad\u3068\u691c\u67fb\u306e\u6d41\u308c<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/greig-cephalopolysyndactyly-syndrome-guide\/#%E2%91%A0%E8%BA%AB%E4%BD%93%E8%A8%BA%E5%AF%9F%EF%BC%88%E8%87%A8%E5%BA%8A%E8%A8%BA%E6%96%AD%EF%BC%89\" >\u2460\u8eab\u4f53\u8a3a\u5bdf\uff08\u81e8\u5e8a\u8a3a\u65ad\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-12\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/greig-cephalopolysyndactyly-syndrome-guide\/#%E2%91%A1%E7%94%BB%E5%83%8F%E6%A4%9C%E6%9F%BB%EF%BC%88%E3%83%AC%E3%83%B3%E3%83%88%E3%82%B2%E3%83%B3%E3%83%BBMRI%EF%BC%89\" >\u2461\u753b\u50cf\u691c\u67fb\uff08\u30ec\u30f3\u30c8\u30b2\u30f3\u30fbMRI\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-13\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/greig-cephalopolysyndactyly-syndrome-guide\/#%E2%91%A2%E9%81%BA%E4%BC%9D%E5%AD%A6%E7%9A%84%E6%A4%9C%E6%9F%BB%E3%81%A8%E9%91%91%E5%88%A5%E8%A8%BA%E6%96%AD\" >\u2462\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u3068\u9451\u5225\u8a3a\u65ad<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/greig-cephalopolysyndactyly-syndrome-guide\/#5_%E6%B2%BB%E7%99%82%E3%81%A8%E7%AE%A1%E7%90%86%EF%BC%9A%E6%89%8B%E8%A1%93%E3%81%AE%E6%99%82%E6%9C%9F%E3%81%A8%E7%94%9F%E6%B4%BB%E3%81%AE%E7%9B%AE%E5%AE%89\" >5. \u6cbb\u7642\u3068\u7ba1\u7406\uff1a\u624b\u8853\u306e\u6642\u671f\u3068\u751f\u6d3b\u306e\u76ee\u5b89<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-15\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/greig-cephalopolysyndactyly-syndrome-guide\/#%E2%91%A0%E6%89%8B%E8%B6%B3%E3%81%AE%E6%89%8B%E8%A1%93%EF%BC%88%E5%BD%A2%E6%88%90%E5%A4%96%E7%A7%91%E3%83%BB%E6%95%B4%E5%BD%A2%E5%A4%96%E7%A7%91%EF%BC%89\" >\u2460\u624b\u8db3\u306e\u624b\u8853\uff08\u5f62\u6210\u5916\u79d1\u30fb\u6574\u5f62\u5916\u79d1\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/greig-cephalopolysyndactyly-syndrome-guide\/#%E2%91%A1%E9%A0%AD%E9%83%A8%E3%81%AE%E3%83%95%E3%82%A9%E3%83%AD%E3%83%BC%E3%82%A2%E3%83%83%E3%83%97%E3%81%A8%E7%99%BA%E9%81%94%E6%94%AF%E6%8F%B4\" >\u2461\u982d\u90e8\u306e\u30d5\u30a9\u30ed\u30fc\u30a2\u30c3\u30d7\u3068\u767a\u9054\u652f\u63f4<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/greig-cephalopolysyndactyly-syndrome-guide\/#6_%E6%97%A5%E3%80%85%E3%81%AE%E7%94%9F%E6%B4%BB%E3%81%A7%E3%81%AE%E5%B7%A5%E5%A4%AB\" >6. \u65e5\u3005\u306e\u751f\u6d3b\u3067\u306e\u5de5\u592b<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-18\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/greig-cephalopolysyndactyly-syndrome-guide\/#7_%E5%87%BA%E7%94%9F%E5%89%8D%E8%A8%BA%E6%96%AD%E3%83%BBNIPT%E3%81%A8GCPS%E3%81%AE%E9%96%A2%E4%BF%82\" >7. \u51fa\u751f\u524d\u8a3a\u65ad\u30fbNIPT\u3068GCPS\u306e\u95a2\u4fc2<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-19\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/greig-cephalopolysyndactyly-syndrome-guide\/#8_%E3%81%94%E5%AE%B6%E6%97%8F%E3%81%B8%E3%81%AE%E3%83%A1%E3%83%83%E3%82%BB%E3%83%BC%E3%82%B8%EF%BC%9A%E6%9C%AA%E6%9D%A5%E3%81%AF%E6%98%8E%E3%82%8B%E3%81%84\" >8. \u3054\u5bb6\u65cf\u3078\u306e\u30e1\u30c3\u30bb\u30fc\u30b8\uff1a\u672a\u6765\u306f\u660e\u308b\u3044<\/a><\/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\/greig-cephalopolysyndactyly-syndrome-guide\/#9_%E3%81%BE%E3%81%A8%E3%82%81\" >9. \u307e\u3068\u3081<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-21\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/greig-cephalopolysyndactyly-syndrome-guide\/#%E3%82%88%E3%81%8F%E3%81%82%E3%82%8B%E8%B3%AA%E5%95%8F\" >\u3088\u304f\u3042\u308b\u8cea\u554f<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-22\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/greig-cephalopolysyndactyly-syndrome-guide\/#%E3%82%B0%E3%83%AC%E3%82%A4%E3%82%B0%E9%A0%AD%E8%93%8B%E5%A4%9A%E6%8C%87%E5%90%88%E6%8C%87%E7%97%87%E5%80%99%E7%BE%A4%EF%BC%88GCPS%EF%BC%89%E3%81%A8%E3%81%AF%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E7%97%85%E6%B0%97%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\" >\u30b0\u30ec\u30a4\u30b0\u982d\u84cb\u591a\u6307\u5408\u6307\u75c7\u5019\u7fa4\uff08GCPS\uff09\u3068\u306f\u3069\u306e\u3088\u3046\u306a\u75c5\u6c17\u3067\u3059\u304b\u3002<\/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\/greig-cephalopolysyndactyly-syndrome-guide\/#GCPS%E3%81%AF%E9%81%BA%E4%BC%9D%E3%81%97%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82%E6%AC%A1%E3%81%AE%E5%AD%90%E3%81%AB%E3%82%82%E5%BD%B1%E9%9F%BF%E3%81%97%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >GCPS\u306f\u907a\u4f1d\u3057\u307e\u3059\u304b\u3002\u6b21\u306e\u5b50\u306b\u3082\u5f71\u97ff\u3057\u307e\u3059\u304b\u3002<\/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\/greig-cephalopolysyndactyly-syndrome-guide\/#GCPS%E3%81%AFNIPT%E3%81%A7%E3%82%8F%E3%81%8B%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >GCPS\u306fNIPT\u3067\u308f\u304b\u308a\u307e\u3059\u304b\u3002<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-25\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/greig-cephalopolysyndactyly-syndrome-guide\/#%E6%89%8B%E8%B6%B3%E3%81%AE%E6%89%8B%E8%A1%93%E3%81%AF%E3%81%84%E3%81%A4%E5%8F%97%E3%81%91%E3%82%8B%E3%81%B9%E3%81%8D%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\" >\u624b\u8db3\u306e\u624b\u8853\u306f\u3044\u3064\u53d7\u3051\u308b\u3079\u304d\u3067\u3059\u304b\u3002<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-26\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/greig-cephalopolysyndactyly-syndrome-guide\/#%E9%A0%AD%E3%81%8C%E5%A4%A7%E3%81%8D%E3%81%84%E3%81%93%E3%81%A8%E3%81%A7%E8%84%B3%E3%81%AB%E5%95%8F%E9%A1%8C%E3%81%8C%E3%81%82%E3%82%8B%E3%81%AE%E3%81%A7%E3%81%AF%E3%81%A8%E5%BF%83%E9%85%8D%E3%81%A7%E3%81%99%E3%80%82\" >\u982d\u304c\u5927\u304d\u3044\u3053\u3068\u3067\u8133\u306b\u554f\u984c\u304c\u3042\u308b\u306e\u3067\u306f\u3068\u5fc3\u914d\u3067\u3059\u3002<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-27\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/greig-cephalopolysyndactyly-syndrome-guide\/#%E4%BC%BC%E3%81%A6%E3%81%84%E3%82%8B%E7%97%85%E6%B0%97%E3%81%AB%E3%81%AF%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E3%82%82%E3%81%AE%E3%81%8C%E3%81%82%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >\u4f3c\u3066\u3044\u308b\u75c5\u6c17\u306b\u306f\u3069\u306e\u3088\u3046\u306a\u3082\u306e\u304c\u3042\u308a\u307e\u3059\u304b\u3002<\/a><\/li><\/ul><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E3%82%B0%E3%83%AC%E3%82%A4%E3%82%B0%E9%A0%AD%E8%93%8B%E5%A4%9A%E6%8C%87%E5%90%88%E6%8C%87%E7%97%87%E5%80%99%E7%BE%A4%EF%BC%88GCPS%EF%BC%89%E3%81%A8%E3%81%AF\"><\/span><strong>1. \u30b0\u30ec\u30a4\u30b0\u982d\u84cb\u591a\u6307\u5408\u6307\u75c7\u5019\u7fa4\uff08GCPS\uff09\u3068\u306f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>GCPS\u306f\u3001\u624b\u8db3\u306e\u6307\u306e\u5f62\u3068\u982d\u306e\u5f62\u306b\u7279\u5fb4\u304c\u73fe\u308c\u308b\u3001\u751f\u307e\u308c\u3064\u304d\u306e\u5148\u5929\u6027\u75be\u60a3\u3067\u3059\u3002<\/strong>\u75c5\u540d\u306f\u9577\u304f\u898b\u3048\u307e\u3059\u304c\u3001\u5b9f\u306f\u75c7\u72b6\u306e\u982d\u6587\u5b57\u3092\u7d44\u307f\u5408\u308f\u305b\u305f\u3060\u3051\u306e\u8a00\u8449\u3067\u3059\u3002<\/p>\n\n\n\n<p>1926\u5e74\u306b\u3001\u30b9\u30b3\u30c3\u30c8\u30e9\u30f3\u30c9\u306e\u533b\u5e2bDavid Middleton Greig\uff08\u30c7\u30d3\u30c3\u30c9\u30fb\u30df\u30c9\u30eb\u30c8\u30f3\u30fb\u30b0\u30ec\u30a4\u30b0\uff09\u535a\u58eb\u304c\u3053\u306e\u75c5\u6c17\u3092\u521d\u3081\u3066\u8a73\u3057\u304f\u5831\u544a\u3057\u307e\u3057\u305f\u3002\u4ee5\u6765\u3001\u5831\u544a\u8005\u306e\u540d\u524d\u3092\u51a0\u3057\u3066\u300cGreig\u75c7\u5019\u7fa4\u300d\u3068\u547c\u3070\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%90%8D%E5%89%8D%E3%81%AE%E7%94%B1%E6%9D%A5%E3%81%A8%E6%84%8F%E5%91%B3\"><\/span><strong>\u540d\u524d\u306e\u7531\u6765\u3068\u610f\u5473<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u75c5\u540d\u3092\u5206\u89e3\u3059\u308b\u3068\u3001\u305d\u308c\u305e\u308c\u306e\u5358\u8a9e\u306b\u610f\u5473\u304c\u3042\u308b\u3053\u3068\u304c\u5206\u304b\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<figure class=\"wp-block-table\"><table class=\"has-fixed-layout\"><tbody><tr><td><strong>Greig\uff08\u30b0\u30ec\u30a4\u30b0\uff09<\/strong><\/td><td>1926\u5e74\u306b\u3053\u306e\u75c5\u6c17\u3092\u521d\u3081\u3066\u5831\u544a\u3057\u305f\u30b0\u30ec\u30a4\u30b0\u535a\u58eb\u306e\u540d\u524d<\/td><\/tr><tr><td><strong>Cephalo\uff08\u30bb\u30d5\u30a1\u30ed\u30fb\u982d\u84cb\uff09<\/strong><\/td><td>\u982d\u306e\u5f62\u306b\u7279\u5fb4\u304c\u3042\u308b\u3053\u3068\uff08\u524d\u984d\u90e8\u306e\u7a81\u51fa\u30fb\u5927\u982d\u75c7\u306a\u3069\uff09<\/td><\/tr><tr><td><strong>Poly\uff08\u30dd\u30ea\u30fb\u591a\uff09<\/strong><\/td><td>\u6307\u306e\u672c\u6570\u304c\u591a\u3044\u300c\u591a\u6307\u75c7\u300d<\/td><\/tr><tr><td><strong>Syndactyly\uff08\u30b7\u30f3\u30c0\u30af\u30c6\u30a3\u30ea\u30fc\u30fb\u5408\u6307\uff09<\/strong><\/td><td>\u6307\u540c\u58eb\u304c\u304f\u3063\u3064\u3044\u3066\u3044\u308b\u300c\u5408\u6307\u75c7\u300d<\/td><\/tr><tr><td><strong>Syndrome\uff08\u30b7\u30f3\u30c9\u30ed\u30fc\u30e0\u30fb\u75c7\u5019\u7fa4\uff09<\/strong><\/td><td>\u3044\u304f\u3064\u304b\u306e\u7279\u5fb4\u7684\u306a\u75c7\u72b6\u304c\u30bb\u30c3\u30c8\u3067\u73fe\u308c\u308b\u75c5\u6c17<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<p>\u3064\u307e\u308a\u300c\u624b\u8db3\u306e\u6307\u304c\u591a\u304f\u3066\u304f\u3063\u3064\u3044\u3066\u3044\u3066\u3001\u982d\u306e\u5f62\u306b\u5c11\u3057\u7279\u5fb4\u304c\u3042\u308b\u75c5\u6c17\u300d\u3068\u3044\u3046\u610f\u5473\u3067\u3059\u3002\u7c73\u56fd\u56fd\u7acb\u885b\u751f\u7814\u7a76\u6240\uff08NIH\uff09\u306e\u5e0c\u5c11\u75be\u60a3\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/6550\/greig-cephalopolysyndactyly-syndrome\" target=\"_blank\" rel=\"noopener\">GARD<\/a>\u3067\u306f\u3001\u975e\u5e38\u306b\u307e\u308c\u306a\u75be\u60a3\u3067\u3042\u308a\u3001\u6b63\u78ba\u306a\u767a\u751f\u983b\u5ea6\u306f\u307e\u3060\u660e\u3089\u304b\u306b\u306a\u3063\u3066\u3044\u306a\u3044\u3068\u4f4d\u7f6e\u3065\u3051\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u4e16\u754c\u7684\u306b\u307f\u3066\u3082\u5831\u544a\u4f8b\u304c\u9650\u3089\u308c\u308b\u5e0c\u5c11\u75be\u60a3\u306e\u305f\u3081\u3001\u62c5\u5f53\u533b\u304b\u3089\u5177\u4f53\u7684\u306a\u898b\u901a\u3057\u3092\u805e\u304d\u306a\u304c\u3089\u7406\u89e3\u3092\u6df1\u3081\u3066\u3044\u304f\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E4%B8%BB%E3%81%AA%E7%97%87%E7%8A%B6%EF%BC%9A%E6%89%8B%E8%B6%B3%E3%83%BB%E9%A0%AD%E9%83%A8%E3%83%BB%E7%99%BA%E9%81%94%E3%81%AE3%E3%81%A4%E3%81%AE%E7%89%B9%E5%BE%B4\"><\/span><strong>2. \u4e3b\u306a\u75c7\u72b6\uff1a\u624b\u8db3\u30fb\u982d\u90e8\u30fb\u767a\u9054\u306e3\u3064\u306e\u7279\u5fb4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>GCPS\u306e\u75c7\u72b6\u306f\u3001\u624b\u8db3\u306e\u6307\u3001\u982d\u90e8\u30fb\u9854\u7acb\u3061\u3001\u305d\u3057\u3066\u767a\u9054\u306e3\u3064\u306e\u9818\u57df\u306b\u73fe\u308c\u307e\u3059\u304c\u3001\u73fe\u308c\u65b9\u306b\u306f\u500b\u4eba\u5dee\u304c\u5927\u304d\u304f\u3001\u540c\u3058\u5bb6\u65cf\u5185\u3067\u3082\u75c7\u72b6\u306e\u91cd\u3055\u304c\u7570\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/strong><\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A0%E6%89%8B%E8%B6%B3%E3%81%AE%E7%89%B9%E5%BE%B4%EF%BC%88%E5%A4%9A%E6%8C%87%E7%97%87%E3%83%BB%E5%90%88%E6%8C%87%E7%97%87%EF%BC%89\"><\/span><strong>\u2460\u624b\u8db3\u306e\u7279\u5fb4\uff08\u591a\u6307\u75c7\u30fb\u5408\u6307\u75c7\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6700\u3082\u6c17\u3065\u304b\u308c\u3084\u3059\u3044\u7279\u5fb4\u3067\u3059\u3002GeneReviews\u3067\u306f\u3001\u89aa\u6307\u5074\u306b\u4f59\u5206\u306a\u6307\u304c\u3042\u308b\u300c\u8ef8\u524d\u6027\u591a\u6307\u75c7\u300d\u3092\u4f34\u3046\u983b\u5ea6\u304c\u9ad8\u3044\u3053\u3068\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<figure class=\"wp-block-table\"><figcaption class=\"wp-element-caption\">\u624b\u8db3\u306b\u73fe\u308c\u3084\u3059\u3044\u7279\u5fb4<\/figcaption><table class=\"has-fixed-layout\"><tbody><tr><td><strong>\u591a\u6307\u75c7<\/strong><\/td><td>\u624b\u3084\u8db3\u306e\u6307\u304c6\u672c\u4ee5\u4e0a\u3042\u308b\u72b6\u614b\u3002GCPS\u3067\u306f\u89aa\u6307\u5074\u306b\u4f59\u5206\u306a\u6307\u304c\u3042\u308b\u300c\u8ef8\u524d\u6027\u300d\u304c\u591a\u3044\u50be\u5411\u306b\u3042\u308a\u307e\u3059\u3002<\/td><\/tr><tr><td><strong>\u5408\u6307\u75c7<\/strong><\/td><td>\u96a3\u308a\u5408\u3046\u6307\u540c\u58eb\u304c\u76ae\u819a\u3067\u304f\u3063\u3064\u3044\u3066\u3044\u308b\u72b6\u614b\uff08\u6c34\u304b\u304d\u72b6\uff09\u3002\u9aa8\u307e\u3067\u7652\u5408\u3059\u308b\u3053\u3068\u306f\u7a00\u3067\u3001\u591a\u304f\u306f\u76ae\u819a\u6027\u306e\u7652\u5408\u3067\u3059\u3002<\/td><\/tr><tr><td><strong>\u5e45\u5e83\u306e\u6bcd\u6307<\/strong><\/td><td>\u89aa\u6307\uff08\u307e\u305f\u306f\u8db3\u306e\u89aa\u6307\uff09\u304c\u901a\u5e38\u3088\u308a\u5c11\u3057\u592a\u304f\u3001\u5e45\u5e83\u306b\u898b\u3048\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A1%E9%A0%AD%E9%83%A8%E3%83%BB%E9%A1%94%E7%AB%8B%E3%81%A1%E3%81%AE%E7%89%B9%E5%BE%B4\"><\/span><strong>\u2461\u982d\u90e8\u30fb\u9854\u7acb\u3061\u306e\u7279\u5fb4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u982d\u306e\u30b5\u30a4\u30ba\u3084\u5f62\u306b\u3082\u7279\u5fb4\u304c\u73fe\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5927\u982d\u75c7\uff1a\u4f53\u306e\u30d0\u30e9\u30f3\u30b9\u306b\u5bfe\u3057\u3066\u982d\u306e\u30b5\u30a4\u30ba\uff08\u982d\u56f2\uff09\u304c\u5927\u304d\u3081\u306b\u306a\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002\u591a\u304f\u306f\u8133\u306e\u6a5f\u80fd\u306b\u554f\u984c\u306e\u306a\u3044\u826f\u6027\u306e\u5927\u982d\u75c7\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u524d\u984d\u90e8\u7a81\u51fa\uff1a\u304a\u3067\u3053\u304c\u5e83\u304f\u3001\u5c11\u3057\u524d\u306b\u51fa\u3066\u3044\u308b\u3088\u3046\u306a\u5f62\u3092\u3057\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u773c\u9593\u958b\u96e2\uff1a\u4e21\u76ee\u306e\u9593\u9694\u304c\u3084\u3084\u96e2\u308c\u3066\u3044\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u7a00\u306b\u3001\u984d\u306e\u4e2d\u592e\u3092\u901a\u308b\u7e2b\u5408\uff08\u77e2\u72b6\u7e2b\u5408\u3084\u51a0\u72b6\u7e2b\u5408\u306e\u4e00\u90e8\uff09\u304c\u65e9\u671f\u306b\u7652\u5408\u3059\u308b\u982d\u84cb\u9aa8\u7e2b\u5408\u65e9\u671f\u7652\u5408\u75c7\u3092\u4f34\u3046\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A2%E7%99%BA%E9%81%94%E3%81%A8%E7%9F%A5%E8%83%BD%EF%BC%88%E3%81%94%E5%AE%B6%E6%97%8F%E3%81%8C%E6%9C%80%E3%82%82%E6%B0%97%E3%81%AB%E3%81%95%E3%82%8C%E3%82%8B%E7%82%B9%EF%BC%89\"><\/span><strong>\u2462\u767a\u9054\u3068\u77e5\u80fd\uff08\u3054\u5bb6\u65cf\u304c\u6700\u3082\u6c17\u306b\u3055\u308c\u308b\u70b9\uff09<\/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\u70b9\u304b\u3068\u601d\u3044\u307e\u3059\u304c\u3001GCPS\u306e\u60a3\u8005\u3055\u3093\u306e\u77e5\u80fd\u306f\u901a\u5e38\u3001\u6b63\u5e38\u7bc4\u56f2\u306b\u3068\u3069\u307e\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7c73\u56fd\u56fd\u7acb\u533b\u5b66\u56f3\u66f8\u9928\uff08NLM\uff09\u306e<a href=\"https:\/\/medlineplus.gov\/genetics\/condition\/greig-cephalopolysyndactyly-syndrome\/\" target=\"_blank\" rel=\"noopener\">MedlinePlus Genetics<\/a>\u306b\u3088\u308b\u3068\u3001\u307e\u308c\u306b\u75d9\u6523\u3084\u767a\u9054\u306e\u9045\u308c\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u304c\u5831\u544a\u3055\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u591a\u304f\u306e\u304a\u5b50\u3055\u307e\u306f\u666e\u901a\u7d1a\u306e\u5b66\u6821\u306b\u901a\u3044\u3001\u793e\u4f1a\u4eba\u3068\u3057\u3066\u81ea\u7acb\u3057\u305f\u751f\u6d3b\u3092\u9001\u3063\u3066\u3044\u307e\u3059\u3002\u982d\u304c\u5927\u304d\u3044\u3053\u3068\u304b\u3089\u8133\u306e\u7570\u5e38\u3092\u5fc3\u914d\u3055\u308c\u308b\u65b9\u306f\u591a\u3044\u306e\u3067\u3059\u304c\u3001\u91cd\u7be4\u306a\u8133\u5947\u5f62\u3092\u4f34\u3046\u3053\u3068\u306f\u975e\u5e38\u306b\u307e\u308c\u3067\u3059\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E5%8E%9F%E5%9B%A0%EF%BC%9AGLI3%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%A8%E9%81%BA%E4%BC%9D%E3%81%AE%E3%81%97%E3%81%8F%E3%81%BF\"><\/span><strong>3. \u539f\u56e0\uff1aGLI3\u907a\u4f1d\u5b50\u3068\u907a\u4f1d\u306e\u3057\u304f\u307f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>GCPS\u306e\u539f\u56e0\u306f\u30017\u756a\u67d3\u8272\u4f53\u306b\u3042\u308b\u300cGLI3\u300d\u3068\u3044\u3046\u907a\u4f1d\u5b50\u306e\u5909\u5316\u3067\u3042\u308b\u3053\u3068\u304c\u5206\u304b\u3063\u3066\u3044\u307e\u3059\u3002\u6c7a\u3057\u3066\u89aa\u306e\u305b\u3044\u3067\u8d77\u3053\u308b\u75c5\u6c17\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/strong>\u300c\u598a\u5a20\u4e2d\u306e\u904e\u3054\u3057\u65b9\u304c\u60aa\u304b\u3063\u305f\u306e\u3067\u306f\u306a\u3044\u304b\u300d\u3068\u3054\u81ea\u8eab\u3092\u8cac\u3081\u308b\u89aa\u5fa1\u3055\u3093\u304c\u5c11\u306a\u304f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u305d\u308c\u306f\u533b\u5b66\u7684\u306b\u5b8c\u5168\u306b\u5426\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"GLI3%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AE%E5%BD%B9%E5%89%B2\"><\/span><strong>GLI3\u907a\u4f1d\u5b50\u306e\u5f79\u5272<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>GLI3\u907a\u4f1d\u5b50\u306f\u3001\u80ce\u5150\u304c\u304a\u8179\u306e\u4e2d\u3067\u6210\u9577\u3059\u308b\u904e\u7a0b\u3067\u3001\u624b\u8db3\u306e\u5f62\u3084\u982d\u306e\u5f62\u3092\u6574\u3048\u308b\u305f\u3081\u306e\u300c\u6307\u4ee4\u5f79\uff08\u8ee2\u5199\u56e0\u5b50\uff09\u300d\u3068\u3057\u3066\u50cd\u304f\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u3067\u3059\u3002\u3053\u306e\u6307\u4ee4\u304c\u3046\u307e\u304f\u4f1d\u308f\u3089\u306a\u3044\u3053\u3068\u3067\u3001\u6307\u306e\u5206\u96e2\u304c\u4e0d\u5341\u5206\u306b\u306a\u3063\u305f\u308a\u3001\u6307\u304c\u591a\u304f\u4f5c\u3089\u308c\u305f\u308a\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%E3%81%97%E3%81%8F%E3%81%BF%EF%BC%9A%E9%A1%95%E6%80%A7%E9%81%BA%E4%BC%9D%E3%81%A8%E6%96%B0%E7%94%9F%E7%AA%81%E7%84%B6%E5%A4%89%E7%95%B0\"><\/span><strong>\u907a\u4f1d\u306e\u3057\u304f\u307f\uff1a\u9855\u6027\u907a\u4f1d\u3068\u65b0\u751f\u7a81\u7136\u5909\u7570<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5e38\u67d3\u8272\u4f53\u9855\u6027\u907a\u4f1d\uff1a<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/testing\/#anchor_sex\">\u6027\u5225<\/a>\u306b\u95a2\u4fc2\u306a\u304f\u73fe\u308c\u307e\u3059\u3002\u3054\u4e21\u89aa\u306e\u3069\u3061\u3089\u304b\u304cGCPS\u306e\u5834\u5408\u3001\u304a\u5b50\u3055\u307e\u306b\u907a\u4f1d\u3059\u308b\u78ba\u7387\u306f50%\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u65b0\u751f\u7a81\u7136\u5909\u7570\uff08de novo\u5909\u7570\uff09\uff1a\u3054\u4e21\u89aa\u306f\u3053\u306e\u907a\u4f1d\u5b50\u5909\u5316\u3092\u6301\u3063\u3066\u304a\u3089\u305a\u3001\u304a\u5b50\u3055\u307e\u306e\u4ee3\u3067\u5076\u7136\u306b\u5909\u5316\u304c\u8d77\u304d\u305f\u30b1\u30fc\u30b9\u3067\u3059\u3002\u3053\u306e\u5834\u5408\u3001\u5144\u5f1f\u59c9\u59b9\u306b\u540c\u3058\u75c5\u6c17\u304c\u73fe\u308c\u308b\u78ba\u7387\u306f\u3001\u4e00\u822c\u306e\u592b\u5a66\u3068\u540c\u3058\u304f\u4f4e\u3044\u307e\u307e\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p>GLI3\u907a\u4f1d\u5b50\u306e\u5909\u5316\u306f\u3001GCPS\u3060\u3051\u3067\u306a\u304f\u300c\u30d1\u30ea\u30b9\u30bf\u30fc\u30fb\u30db\u30fc\u30eb\u75c7\u5019\u7fa4\u300d\u306a\u3069\u8907\u6570\u306e\u75c5\u6c17\u306e\u539f\u56e0\u306b\u306a\u308b\u3053\u3068\u304c<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1446\/\" target=\"_blank\" rel=\"noopener\">GeneReviews<\/a>\u3067\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u540c\u3058\u907a\u4f1d\u5b50\u3067\u3082\u5909\u5316\u306e\u8d77\u304d\u65b9\u306b\u3088\u3063\u3066\u73fe\u308c\u308b\u75c5\u6c17\u304c\u7570\u306a\u308b\u70b9\u306f\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u73fe\u5834\u3067\u3082\u4e01\u5be7\u306a\u8aac\u660e\u304c\u6c42\u3081\u3089\u308c\u308b\u3068\u3053\u308d\u3067\u3059\u3002<\/p>\n\n\n\n<figure class=\"wp-block-table\"><figcaption class=\"wp-element-caption\">GLI3\u907a\u4f1d\u5b50\u304c\u95a2\u308f\u308b\u4e3b\u306a\u75be\u60a3\u306e\u9055\u3044<\/figcaption><table class=\"has-fixed-layout\"><tbody><tr><td><strong>\u75be\u60a3\u540d<\/strong><\/td><td><strong>GLI3\u907a\u4f1d\u5b50\u5909\u5316\u306e\u30bf\u30a4\u30d7<\/strong><\/td><td><strong>\u7279\u5fb4\u7684\u306a\u75c7\u72b6<\/strong><\/td><\/tr><tr><td>GCPS<\/td><td>\u3042\u3089\u3086\u308b\u30bf\u30a4\u30d7\u306e\u5909\u5316<\/td><td>\u5927\u982d\u75c7\u30fb\u773c\u9593\u958b\u96e2\u30fb\u591a\u6307\u75c7\u30fb\u5408\u6307\u75c7<\/td><\/tr><tr><td>\u30d1\u30ea\u30b9\u30bf\u30fc\u30fb\u30db\u30fc\u30eb\u75c7\u5019\u7fa4<\/td><td>\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u9014\u4e2d\u3067\u77ed\u304f\u3059\u308b\u5909\u5316\u304c\u4e2d\u5fc3<\/td><td>\u591a\u6307\u75c7\u306b\u52a0\u3048\u3001\u8996\u5e8a\u4e0b\u90e8\u904e\u8aa4\u816b\u3084\u5589\u982d\u306e\u5206\u5c90\u7570\u5e38\u3092\u4f34\u3046\u3053\u3068\u304c\u3042\u308b<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E8%A8%BA%E6%96%AD%E3%81%A8%E6%A4%9C%E6%9F%BB%E3%81%AE%E6%B5%81%E3%82%8C\"><\/span><strong>4. \u8a3a\u65ad\u3068\u691c\u67fb\u306e\u6d41\u308c<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u901a\u5e38\u3001\u751f\u307e\u308c\u305f\u3068\u304d\u306e\u8eab\u4f53\u7684\u7279\u5fb4\u304b\u3089\u7591\u308f\u308c\u3001\u8eab\u4f53\u8a3a\u5bdf\u30fb\u753b\u50cf\u691c\u67fb\u30fb\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u306e3\u30b9\u30c6\u30c3\u30d7\u3067\u8a3a\u65ad\u304c\u9032\u307f\u307e\u3059\u3002<\/strong><\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A0%E8%BA%AB%E4%BD%93%E8%A8%BA%E5%AF%9F%EF%BC%88%E8%87%A8%E5%BA%8A%E8%A8%BA%E6%96%AD%EF%BC%89\"><\/span><strong>\u2460\u8eab\u4f53\u8a3a\u5bdf\uff08\u81e8\u5e8a\u8a3a\u65ad\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u533b\u5e2b\u304c\u624b\u8db3\u306e\u6307\u306e\u6570\u3084\u5f62\u3001\u982d\u306e\u5927\u304d\u3055\u3001\u9854\u7acb\u3061\u306a\u3069\u3092\u8a73\u3057\u304f\u8a3a\u5bdf\u3057\u307e\u3059\u3002\u591a\u6307\u30fb\u5408\u6307\u30fb\u5927\u982d\u306e3\u3064\u304c\u63c3\u3063\u3066\u3044\u308b\u5834\u5408\u3001GCPS\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=\"%E2%91%A1%E7%94%BB%E5%83%8F%E6%A4%9C%E6%9F%BB%EF%BC%88%E3%83%AC%E3%83%B3%E3%83%88%E3%82%B2%E3%83%B3%E3%83%BBMRI%EF%BC%89\"><\/span><strong>\u2461\u753b\u50cf\u691c\u67fb\uff08\u30ec\u30f3\u30c8\u30b2\u30f3\u30fbMRI\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u30ec\u30f3\u30c8\u30b2\u30f3\uff1a\u624b\u8db3\u306e\u9aa8\u306e\u72b6\u614b\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002\u4f59\u5206\u306a\u6307\u306b\u9aa8\u304c\u3042\u308b\u304b\u3001\u3069\u306e\u9aa8\u304b\u3089\u5206\u5c90\u3057\u3066\u3044\u308b\u304b\u3092\u8abf\u3079\u3001\u624b\u8853\u8a08\u753b\u306e\u6750\u6599\u306b\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>CT\u30fbMRI\uff1a\u982d\u304c\u5927\u304d\u3044\u5834\u5408\u3001\u8133\u306e\u4e2d\u306b\u6c34\u304c\u6e9c\u307e\u3063\u3066\u3044\u306a\u3044\u304b\uff08\u6c34\u982d\u75c7\u306a\u3069\uff09\u3001\u8133\u306e\u69cb\u9020\u306b\u7570\u5e38\u304c\u306a\u3044\u304b\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002\u591a\u304f\u306f\u300c\u7570\u5e38\u306a\u3057\u300d\u307e\u305f\u306f\u300c\u826f\u6027\u306e\u62e1\u5927\u300d\u3068\u8a3a\u65ad\u3055\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A2%E9%81%BA%E4%BC%9D%E5%AD%A6%E7%9A%84%E6%A4%9C%E6%9F%BB%E3%81%A8%E9%91%91%E5%88%A5%E8%A8%BA%E6%96%AD\"><\/span><strong>\u2462\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u3068\u9451\u5225\u8a3a\u65ad<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8840\u6db2\u3092\u63a1\u53d6\u3057\u3066DNA\u3092\u8abf\u3079\u3001GLI3\u907a\u4f1d\u5b50\u306b\u5909\u5316\u304c\u3042\u308b\u304b\u3092\u78ba\u8a8d\u3059\u308b\u691c\u67fb\u3067\u3059\u3002\u3053\u306e\u7d50\u679c\u3092\u3082\u3063\u3066\u78ba\u5b9a\u8a3a\u65ad\u3068\u306a\u308a\u307e\u3059\u3002\u79c1\u305f\u3061\u304c\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u73fe\u5834\u3067\u304a\u4f1d\u3048\u3057\u3066\u3044\u308b\u306e\u306f\u3001\u4f3c\u305f\u75c7\u72b6\u3092\u6301\u3064\u75c5\u6c17\u3068\u306e\u533a\u5225\u304c\u3068\u3066\u3082\u91cd\u8981\u3060\u3068\u3044\u3046\u70b9\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u30d1\u30ea\u30b9\u30bf\u30fc\u30fb\u30db\u30fc\u30eb\u75c7\u5019\u7fa4\u3084\u30a2\u30af\u30ed\u30ab\u30ed\u30fc\u30b6\u30eb\u75c7\u5019\u7fa4\u306a\u3069\u3001\u540c\u3058\u304f\u591a\u6307\u75c7\u3084\u5927\u982d\u75c7\u3092\u4f34\u3046\u75be\u60a3\u306f\u8907\u6570\u3042\u308a\u307e\u3059\u3002\u898b\u305f\u76ee\u306e\u75c7\u72b6\u3060\u3051\u3067\u306f\u5224\u65ad\u304c\u96e3\u3057\u3044\u30b1\u30fc\u30b9\u3082\u3042\u308b\u305f\u3081\u3001\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u306b\u3088\u308b\u6b63\u78ba\u306a\u8a3a\u65ad\u306f\u3001\u305d\u306e\u5f8c\u306e\u6cbb\u7642\u65b9\u91dd\u3084\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u5185\u5bb9\u3092\u5de6\u53f3\u3059\u308b\u91cd\u8981\u306a\u30b9\u30c6\u30c3\u30d7\u3067\u3059\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2025\/10\/3620425_s.webp\" alt=\"\u533b\u8005\u304c\u89aa\u5b50\u306b\u8aac\u660e\u3057\u3066\u3044\u308b\u69d8\u5b50\" class=\"wp-image-118634\"\/><\/figure><\/div>\n\n\n<p>\u907a\u4f1d\u7684\u306a\u75be\u60a3\u5168\u822c\u306b\u3064\u3044\u3066\u3001\u5c02\u9580\u5bb6\u306b\u76f4\u63a5\u76f8\u8ac7\u3057\u305f\u3044\u5834\u5408\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-counseling\/\">\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u5185\u5bb9\u3084\u91cd\u8981\u6027\u3092\u89e3\u8aac\u3057\u305f\u8a18\u4e8b<\/a>\u3082\u3042\u308f\u305b\u3066\u3054\u78ba\u8a8d\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"5_%E6%B2%BB%E7%99%82%E3%81%A8%E7%AE%A1%E7%90%86%EF%BC%9A%E6%89%8B%E8%A1%93%E3%81%AE%E6%99%82%E6%9C%9F%E3%81%A8%E7%94%9F%E6%B4%BB%E3%81%AE%E7%9B%AE%E5%AE%89\"><\/span><strong>5. \u6cbb\u7642\u3068\u7ba1\u7406\uff1a\u624b\u8853\u306e\u6642\u671f\u3068\u751f\u6d3b\u306e\u76ee\u5b89<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>GLI3\u907a\u4f1d\u5b50\u306e\u5909\u5316\u305d\u306e\u3082\u306e\u3092\u6cbb\u3059\u6cbb\u7642\u6cd5\u306f\u306a\u304f\u3001\u6cbb\u7642\u306e\u76ee\u7684\u306f\u300c\u624b\u8db3\u306e\u6a5f\u80fd\u3092\u826f\u304f\u3059\u308b\u3053\u3068\u300d\u3068\u300c\u898b\u305f\u76ee\u3092\u6574\u3048\u308b\u3053\u3068\u300d\u306e2\u70b9\u3067\u3059\u3002<\/strong><\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A0%E6%89%8B%E8%B6%B3%E3%81%AE%E6%89%8B%E8%A1%93%EF%BC%88%E5%BD%A2%E6%88%90%E5%A4%96%E7%A7%91%E3%83%BB%E6%95%B4%E5%BD%A2%E5%A4%96%E7%A7%91%EF%BC%89\"><\/span><strong>\u2460\u624b\u8db3\u306e\u624b\u8853\uff08\u5f62\u6210\u5916\u79d1\u30fb\u6574\u5f62\u5916\u79d1\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u591a\u6307\u75c7\u3084\u5408\u6307\u75c7\u306b\u5bfe\u3057\u3066\u306f\u3001\u624b\u8853\u306b\u3088\u308b\u4fee\u6b63\u304c\u884c\u308f\u308c\u307e\u3059\u3002\u6642\u671f\u306e\u76ee\u5b89\u306f\u3001\u4ee5\u4e0b\u306e\u8868\u306e\u3068\u304a\u308a\u3067\u3059\u3002<\/p>\n\n\n\n<figure class=\"wp-block-table\"><figcaption class=\"wp-element-caption\">\u624b\u8853\u6642\u671f\u306e\u76ee\u5b89<\/figcaption><table class=\"has-fixed-layout\"><tbody><tr><td><strong>\u624b\u8853\u5185\u5bb9<\/strong><\/td><td><strong>\u6642\u671f\u306e\u76ee\u5b89<\/strong><\/td><td><strong>\u30dd\u30a4\u30f3\u30c8<\/strong><\/td><\/tr><tr><td>\u591a\u6307\u75c7\uff08\u624b\uff09<\/td><td>1\u6b73\u524d\u5f8c<\/td><td>\u6307\u306e\u6a5f\u80fd\u767a\u9054\u304c\u76db\u3093\u306b\u306a\u308b\u524d\u306b\u884c\u3046\u306e\u304c\u4e00\u822c\u7684<\/td><\/tr><tr><td>\u591a\u6307\u75c7\uff08\u8db3\uff09<\/td><td>\u9774\u3092\u5c65\u3044\u3066\u6b69\u304d\u59cb\u3081\u308b1\u6b73\u9803\u307e\u3067<\/td><td>\u5358\u306b\u5207\u9664\u3059\u308b\u3060\u3051\u3067\u306a\u304f\u976d\u5e2f\u30fb\u7b4b\u8089\u306e\u30d0\u30e9\u30f3\u30b9\u8abf\u6574\u3082\u884c\u3046\u7e4a\u7d30\u306a\u624b\u8853<\/td><\/tr><tr><td>\u5408\u6307\u75c7<\/td><td>1\u301c2\u6b73\u9803\u304b\u3089\u5c31\u5b66\u524d\u307e\u3067<\/td><td>\u76ae\u819a\u304c\u8db3\u308a\u306a\u3044\u5834\u5408\u306f\u4ed6\u90e8\u4f4d\u304b\u3089\u690d\u76ae\u3059\u308b\u3053\u3068\u304c\u3042\u308b<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A1%E9%A0%AD%E9%83%A8%E3%81%AE%E3%83%95%E3%82%A9%E3%83%AD%E3%83%BC%E3%82%A2%E3%83%83%E3%83%97%E3%81%A8%E7%99%BA%E9%81%94%E6%94%AF%E6%8F%B4\"><\/span><strong>\u2461\u982d\u90e8\u306e\u30d5\u30a9\u30ed\u30fc\u30a2\u30c3\u30d7\u3068\u767a\u9054\u652f\u63f4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5b9a\u671f\u7684\u306a\u5065\u8a3a\u3067\u982d\u56f2\u3092\u6e2c\u5b9a\u3057\u3001\u6210\u9577\u66f2\u7dda\u306b\u6cbf\u3063\u3066\u5927\u304d\u304f\u306a\u3063\u3066\u3044\u308b\u304b\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002\u6975\u3081\u3066\u307e\u308c\u306b\u6c34\u982d\u75c7\u306e\u5146\u5019\u304c\u3042\u308b\u5834\u5408\u306f\u8133\u795e\u7d4c\u5916\u79d1\u7684\u306a\u5bfe\u5fdc\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u307b\u3068\u3093\u3069\u306f\u7d4c\u904e\u89b3\u5bdf\u306e\u307f\u3067\u554f\u984c\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u57fa\u672c\u7684\u306b\u767a\u9054\u306f\u6b63\u5e38\u7bc4\u56f2\u3067\u3059\u304c\u3001\u6307\u306e\u624b\u8853\u524d\u5f8c\u3067\u624b\u306e\u4f7f\u3044\u65b9\u304c\u304e\u3053\u3061\u306a\u3044\u5834\u5408\u306f\u3001\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09\u306a\u3069\u306e\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u3067\u30dc\u30bf\u30f3\u304b\u3051\u3084\u925b\u7b46\u64cd\u4f5c\u3068\u3044\u3063\u305f\u5fae\u7d30\u904b\u52d5\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=\"6_%E6%97%A5%E3%80%85%E3%81%AE%E7%94%9F%E6%B4%BB%E3%81%A7%E3%81%AE%E5%B7%A5%E5%A4%AB\"><\/span><strong>6. \u65e5\u3005\u306e\u751f\u6d3b\u3067\u306e\u5de5\u592b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u8a3a\u65ad\u76f4\u5f8c\u306f\u5206\u304b\u3089\u306a\u3044\u3053\u3068\u3070\u304b\u308a\u3067\u3082\u3001\u65e5\u3005\u306e\u66ae\u3089\u3057\u306e\u4e2d\u3067\u5de5\u592b\u3067\u304d\u308b\u30dd\u30a4\u30f3\u30c8\u306f\u6570\u591a\u304f\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u9774\u9078\u3073\uff1a\u8db3\u306b\u591a\u6307\u75c7\u304c\u3042\u308b\u5834\u5408\u3001\u624b\u8853\u307e\u3067\u306f\u65e2\u88fd\u54c1\u306e\u9774\u304c\u7aae\u5c48\u3067\u5c65\u3051\u306a\u3044\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u5e45\u5e83\u306e\u9774\u3084\u67d4\u3089\u304b\u3044\u7d20\u6750\u306e\u9774\u3092\u9078\u3076\u5de5\u592b\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u5712\u30fb\u5b66\u6821\u751f\u6d3b\uff1a\u624b\u8853\u306e\u50b7\u8de1\u3084\u6307\u306e\u5f62\u3092\u304a\u53cb\u9054\u304b\u3089\u805e\u304b\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u300c\u751f\u307e\u308c\u3064\u304d\u6307\u304c\u305f\u304f\u3055\u3093\u3042\u3063\u3066\u3001\u4eca\u306f\u624b\u8853\u3057\u3066\u76f4\u3057\u305f\u3093\u3060\u300d\u3068\u3001\u304a\u5b50\u3055\u307e\u81ea\u8eab\u304c\u81ea\u4fe1\u3092\u6301\u3063\u3066\u8aac\u660e\u3067\u304d\u308b\u8a00\u8449\u304c\u3051\u3092\u3001\u3054\u5bb6\u65cf\u3067\u8a71\u3057\u5408\u3063\u3066\u304a\u304f\u3068\u5b89\u5fc3\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u5b9a\u671f\u691c\u8a3a\uff1a\u624b\u8853\u5f8c\u3082\u3001\u9aa8\u306e\u6210\u9577\u3068\u3068\u3082\u306b\u6307\u304c\u66f2\u304c\u3063\u3066\u3053\u306a\u3044\u304b\u3001\u6210\u9577\u671f\u304c\u7d42\u308f\u308b\u307e\u3067\u5e741\u56de\u7a0b\u5ea6\u306e\u30c1\u30a7\u30c3\u30af\u3092\u7d9a\u3051\u308b\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"7_%E5%87%BA%E7%94%9F%E5%89%8D%E8%A8%BA%E6%96%AD%E3%83%BBNIPT%E3%81%A8GCPS%E3%81%AE%E9%96%A2%E4%BF%82\"><\/span><strong>7. \u51fa\u751f\u524d\u8a3a\u65ad\u30fbNIPT\u3068GCPS\u306e\u95a2\u4fc2<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u7d50\u8ad6\u304b\u3089\u304a\u4f1d\u3048\u3059\u308b\u3068\u3001GCPS\u306f\u57fa\u672c\u7684\u306aNIPT\uff08\u65b0\u578b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\uff09\u304c\u5bfe\u8c61\u3068\u3059\u308b\u7bc4\u56f2\u306b\u306f\u542b\u307e\u308c\u3066\u3044\u307e\u305b\u3093\u3002<\/strong>\u79c1\u305f\u3061\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u306e\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u3082\u300cNIPT\u3092\u53d7\u3051\u3066\u3044\u305f\u306e\u306b\u3001\u306a\u305c\u5206\u304b\u3089\u306a\u304b\u3063\u305f\u306e\u304b\u300d\u3068\u3044\u3046\u3054\u8cea\u554f\u3092\u3044\u305f\u3060\u304f\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u3053\u308c\u306fNIPT\u306e\u691c\u67fb\u5bfe\u8c61\u306e\u9055\u3044\u306b\u3088\u308b\u3082\u306e\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u57fa\u672c\u7684\u306aNIPT\u306f\u300121\u30c8\u30ea\u30bd\u30df\u30fc\uff08<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/testing\/\">\u30c0\u30a6\u30f3\u75c7\u5019\u7fa4<\/a>\uff09\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/edwards-syndrome\/\">18\u30c8\u30ea\u30bd\u30df\u30fc<\/a>\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/patau-syndrome\/\">13\u30c8\u30ea\u30bd\u30df\u30fc<\/a>\u3068\u3044\u3063\u305f\u3001\u67d3\u8272\u4f53\u306e\u6570\u306e\u7570\u5e38\uff08\u6570\u7684\u7570\u5e38\uff09\u3092\u8abf\u3079\u308b\u691c\u67fb\u3067\u3059\u3002GCPS\u306fGLI3\u3068\u3044\u30461\u3064\u306e\u907a\u4f1d\u5b50\u306e\u5909\u5316\u306b\u3088\u3063\u3066\u8d77\u3053\u308b\u300c\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u300d\u3067\u3042\u308a\u3001\u67d3\u8272\u4f53\u306e\u6570\u305d\u306e\u3082\u306e\u306b\u306f\u7570\u5e38\u304c\u3042\u308a\u307e\u305b\u3093\u3002\u305d\u306e\u305f\u3081\u3001\u67d3\u8272\u4f53\u306e\u672c\u6570\u3092\u8abf\u3079\u308b\u57fa\u672c\u7684\u306aNIPT\u3067\u306f\u3001\u539f\u7406\u4e0a\u3068\u3089\u3048\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u8fd1\u5e74\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u3084\u4e00\u90e8\u306e\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u307e\u3067\u5bfe\u8c61\u7bc4\u56f2\u3092\u5e83\u3052\u305f\u62e1\u5f35\u691c\u67fb\u3082\u767b\u5834\u3057\u3066\u3044\u307e\u3059\u304c\u3001\u5bfe\u8c61\u75be\u60a3\u306f\u691c\u67fb\u4f1a\u793e\u3084\u30d7\u30e9\u30f3\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u307e\u3059\u3002GCPS\u306e\u3088\u3046\u306b\u5831\u544a\u6570\u306e\u5c11\u306a\u3044\u5e0c\u5c11\u75be\u60a3\u304c\u500b\u5225\u306b\u5bfe\u8c61\u3078\u542b\u307e\u308c\u3066\u3044\u308b\u304b\u3069\u3046\u304b\u306f\u3001\u691c\u67fb\u524d\u306e\u8aac\u660e\u8cc7\u6599\u3067\u78ba\u8a8d\u3059\u308b\u3053\u3068\u304c\u6b20\u304b\u305b\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u3054\u4e21\u89aa\u306e\u3069\u3061\u3089\u304b\u304cGCPS\u3068\u8a3a\u65ad\u3055\u308c\u3066\u3044\u308b\u5834\u5408\u3084\u3001\u5bb6\u65cf\u5185\u3067\u306e\u767a\u75c7\u6b74\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u6b21\u306e\u304a\u5b50\u3055\u307e\u306b\u3064\u3044\u3066\u51fa\u751f\u524d\u306b\u8abf\u3079\u308b\u65b9\u6cd5\u3068\u3057\u3066\u3001<strong><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chorionic-villus-test\/\">\u7d68\u6bdb\u691c\u67fb<\/a>\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u3067GLI3\u907a\u4f1d\u5b50\u3092\u76f4\u63a5\u8abf\u3079\u308b\u78ba\u5b9a\u7684\u691c\u67fb<\/strong>\u3092\u9078\u629e\u80a2\u306b\u5165\u308c\u308b\u3053\u3068\u3082\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3044\u305a\u308c\u306e\u5834\u5408\u3082\u3001NIPT\u306f\u3042\u304f\u307e\u3067\u975e\u78ba\u5b9a\u7684\u306a\u691c\u67fb\u3067\u3059\u3002\u4eee\u306b\u4f55\u3089\u304b\u306e\u6240\u898b\u304c\u3042\u3063\u305f\u5834\u5408\u3067\u3082\u3001\u78ba\u5b9a\u8a3a\u65ad\u306b\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u306a\u3069\u306e\u78ba\u5b9a\u7684\u691c\u67fb\u304c\u5fc5\u8981\u306b\u306a\u308b\u70b9\u306f\u5909\u308f\u308a\u307e\u305b\u3093\u3002\u3054\u81ea\u8eab\u3084\u3054\u5bb6\u65cf\u306e\u72b6\u6cc1\u306b\u5fdc\u3058\u3066\u3069\u306e\u691c\u67fb\u3092\u9078\u3076\u3079\u304d\u304b\u8ff7\u3046\u5834\u5408\u306f\u3001\u307e\u305a<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-testing-overview-japan\/\">NIPT\u306e\u57fa\u672c\u7684\u306a\u4ed5\u7d44\u307f\u3092\u89e3\u8aac\u3057\u305f\u8a18\u4e8b<\/a>\u3067\u5168\u4f53\u50cf\u3092\u78ba\u8a8d\u3057\u305f\u3046\u3048\u3067\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u5177\u4f53\u7684\u306b\u76f8\u8ac7\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<div class=\"wp-block-buttons is-content-justification-center is-layout-flex wp-container-core-buttons-is-layout-16018d1d wp-block-buttons-is-layout-flex\">\n<div class=\"wp-block-button\"><a class=\"wp-block-button__link wp-element-button\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/line-registration\/\" target=\"_blank\" rel=\"noopener\">LINE\u3067\u7121\u6599\u76f8\u8ac7\u3059\u308b<\/a><\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"8_%E3%81%94%E5%AE%B6%E6%97%8F%E3%81%B8%E3%81%AE%E3%83%A1%E3%83%83%E3%82%BB%E3%83%BC%E3%82%B8%EF%BC%9A%E6%9C%AA%E6%9D%A5%E3%81%AF%E6%98%8E%E3%82%8B%E3%81%84\"><\/span><strong>8. \u3054\u5bb6\u65cf\u3078\u306e\u30e1\u30c3\u30bb\u30fc\u30b8\uff1a\u672a\u6765\u306f\u660e\u308b\u3044<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u8a3a\u65ad\u3092\u53d7\u3051\u305f\u76f4\u5f8c\u306f\u4e0d\u5b89\u304c\u5927\u304d\u3044\u3082\u306e\u3067\u3059\u304c\u3001\u5f62\u6210\u5916\u79d1\u30fb\u624b\u5916\u79d1\u306e\u6280\u8853\u306f\u9032\u6b69\u3057\u3066\u304a\u308a\u3001\u591a\u304f\u306e\u304a\u5b50\u3055\u307e\u304c\u624b\u8db3\u306e\u6a5f\u80fd\u3092\u5341\u5206\u306b\u7372\u5f97\u3057\u3066\u6210\u9577\u3057\u3066\u3044\u307e\u3059\u3002<\/strong><\/p>\n\n\n\n<p>\u8a3a\u65ad\u76f4\u5f8c\u306f\u3001\u304a\u5b50\u3055\u307e\u306e\u5c0f\u3055\u304f\u3066\u53ef\u611b\u3044\u624b\u8db3\u3092\u898b\u3066\u300c\u624b\u8853\u3067\u75db\u3044\u601d\u3044\u3092\u3055\u305b\u308b\u306e\u306f\u53ef\u54c0\u60f3\u3060\u300d\u300c\u5c06\u6765\u3044\u3058\u3081\u3089\u308c\u306a\u3044\u3060\u308d\u3046\u304b\u300d\u3068\u3001\u80f8\u304c\u7de0\u3081\u4ed8\u3051\u3089\u308c\u308b\u601d\u3044\u3092\u3055\u308c\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u9069\u5207\u306a\u6642\u671f\u306b\u624b\u8853\u3092\u53d7\u3051\u308b\u3053\u3068\u3067\u3001\u4ed6\u306e\u5b50\u3068\u540c\u3058\u3088\u3046\u306b\u7d75\u3092\u63cf\u304d\u3001\u30b9\u30dd\u30fc\u30c4\u3092\u3057\u3001\u697d\u5668\u3092\u6f14\u594f\u3059\u308b\u3053\u3068\u3082\u3067\u304d\u308b\u3088\u3046\u306b\u306a\u308a\u307e\u3059\u3002\u3053\u306e\u75c7\u5019\u7fa4\u306e\u304a\u5b50\u3055\u307e\u305f\u3061\u306e\u591a\u304f\u306f\u3001\u660e\u308b\u304f\u5143\u6c17\u306b\u6210\u9577\u3057\u3001\u793e\u4f1a\u3067\u6d3b\u8e8d\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5e0c\u5c11\u75be\u60a3\u3067\u3042\u308b\u305f\u3081\u3001\u8eab\u8fd1\u306b\u540c\u3058\u60a9\u307f\u3092\u6301\u3064\u4eba\u304c\u304a\u3089\u305a\u3001\u5b64\u72ec\u3092\u611f\u3058\u308b\u3053\u3068\u3082\u3042\u308b\u3067\u3057\u3087\u3046\u3002\u5c02\u9580\u306e\u533b\u7642\u6a5f\u95a2\uff08\u3053\u3069\u3082\u75c5\u9662\u3084\u5927\u5b66\u75c5\u9662\u306e\u907a\u4f1d\u8a3a\u7642\u79d1\u30fb\u5f62\u6210\u5916\u79d1\uff09\u306b\u306f\u3001\u7d4c\u9a13\u3092\u6301\u3064\u533b\u5e2b\u3084\u770b\u8b77\u5e2b\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u304c\u3044\u307e\u3059\u3002\u4e0d\u5b89\u306a\u3053\u3068\u3001\u4e9b\u7d30\u306a\u7591\u554f\u306f\u9060\u616e\u306a\u304f\u76f8\u8ac7\u3057\u3066\u304f\u3060\u3055\u3044\u3002\u304a\u5b50\u3055\u307e\u306e\u300c\u500b\u6027\u300d\u306e\u4e00\u90e8\u3067\u3042\u308b\u624b\u3084\u982d\u306e\u5f62\u3082\u542b\u3081\u3066\u3001\u4eca\u306e\u3042\u308a\u306e\u307e\u307e\u306e\u304a\u5b50\u3055\u307e\u3092\u611b\u3057\u3066\u3042\u3052\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"9_%E3%81%BE%E3%81%A8%E3%82%81\"><\/span><strong>9. \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<figure class=\"wp-block-table\"><table class=\"has-fixed-layout\"><tbody><tr><td><strong>\u9805\u76ee<\/strong><\/td><td><strong>\u30dd\u30a4\u30f3\u30c8<\/strong><\/td><\/tr><tr><td>\u75c5\u6c17\u306e\u7279\u5fb4<\/td><td>GLI3\u907a\u4f1d\u5b50\u306e\u5909\u5316\u306b\u3088\u308b\u3001\u624b\u8db3\u306e\u6307\u306e\u7570\u5e38\u3068\u5927\u982d\u75c7\u3092\u7279\u5fb4\u3068\u3059\u308b\u5148\u5929\u6027\u75be\u60a3<\/td><\/tr><tr><td>\u4e3b\u306a\u75c7\u72b6<\/td><td>\u591a\u6307\u75c7\u3001\u5408\u6307\u75c7\u3001\u524d\u984d\u90e8\u7a81\u51fa\u3001\u5927\u982d\u75c7<\/td><\/tr><tr><td>\u77e5\u80fd\u30fb\u751f\u547d\u4e88\u5f8c<\/td><td>\u4e00\u822c\u7684\u306b\u826f\u597d\u3067\u3001\u901a\u5e38\u3069\u304a\u308a\u306e\u5bff\u547d\u3068\u751f\u6d3b\u304c\u671f\u5f85\u3067\u304d\u308b<\/td><\/tr><tr><td>\u539f\u56e0<\/td><td>GLI3\u907a\u4f1d\u5b50\u306e\u5909\u5316\u3002\u89aa\u306e\u305b\u3044\u3067\u8d77\u3053\u308b\u3082\u306e\u3067\u306f\u306a\u3044<\/td><\/tr><tr><td>\u6cbb\u7642<\/td><td>1\u6b73\u524d\u5f8c\u3092\u76ee\u5b89\u306b\u884c\u3046\u624b\u8db3\u306e\u5f62\u6210\u624b\u8853\u304c\u4e2d\u5fc3<\/td><\/tr><tr><td>NIPT\u3068\u306e\u95a2\u4fc2<\/td><td>\u57fa\u672c\u7684\u306aNIPT\u306e\u5bfe\u8c61\u7bc4\u56f2\u5916\u3002\u5bb6\u65cf\u6b74\u304c\u3042\u308b\u5834\u5408\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u7b49\u3067\u306e\u78ba\u5b9a\u691c\u67fb\u304c\u9078\u629e\u80a2<\/td><\/tr><\/tbody><\/table><\/figure>\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\"><\/span><strong>\u3088\u304f\u3042\u308b\u8cea\u554f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%82%B0%E3%83%AC%E3%82%A4%E3%82%B0%E9%A0%AD%E8%93%8B%E5%A4%9A%E6%8C%87%E5%90%88%E6%8C%87%E7%97%87%E5%80%99%E7%BE%A4%EF%BC%88GCPS%EF%BC%89%E3%81%A8%E3%81%AF%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E7%97%85%E6%B0%97%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u30b0\u30ec\u30a4\u30b0\u982d\u84cb\u591a\u6307\u5408\u6307\u75c7\u5019\u7fa4\uff08GCPS\uff09\u3068\u306f\u3069\u306e\u3088\u3046\u306a\u75c5\u6c17\u3067\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>7\u756a\u67d3\u8272\u4f53\u306b\u3042\u308bGLI3\u907a\u4f1d\u5b50\u306e\u5909\u5316\u306b\u3088\u3063\u3066\u8d77\u3053\u308b\u5148\u5929\u6027\u75be\u60a3\u3067\u3059\u3002\u624b\u8db3\u306e\u6307\u306e\u6570\u3084\u5f62\uff08\u591a\u6307\u75c7\u30fb\u5408\u6307\u75c7\uff09\u3001\u982d\u306e\u5f62\uff08\u5927\u982d\u75c7\u30fb\u524d\u984d\u90e8\u7a81\u51fa\uff09\u306b\u7279\u5fb4\u304c\u73fe\u308c\u307e\u3059\u304c\u3001\u77e5\u80fd\u306e\u767a\u9054\u306f\u591a\u304f\u306e\u5834\u5408\u3067\u554f\u984c\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"GCPS%E3%81%AF%E9%81%BA%E4%BC%9D%E3%81%97%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82%E6%AC%A1%E3%81%AE%E5%AD%90%E3%81%AB%E3%82%82%E5%BD%B1%E9%9F%BF%E3%81%97%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span>GCPS\u306f\u907a\u4f1d\u3057\u307e\u3059\u304b\u3002\u6b21\u306e\u5b50\u306b\u3082\u5f71\u97ff\u3057\u307e\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5e38\u67d3\u8272\u4f53\u9855\u6027\u907a\u4f1d\u306e\u75c5\u6c17\u3067\u3001\u3054\u4e21\u89aa\u306e\u3069\u3061\u3089\u304b\u304cGCPS\u306e\u5834\u5408\u3001\u304a\u5b50\u3055\u307e\u306b\u907a\u4f1d\u3059\u308b\u78ba\u7387\u306f50%\u3067\u3059\u3002\u4e00\u65b9\u3067\u3054\u4e21\u89aa\u306e\u3069\u3061\u3089\u3082\u5909\u5316\u3092\u6301\u305f\u306a\u3044\u300c\u65b0\u751f\u7a81\u7136\u5909\u7570\uff08de novo\u5909\u7570\uff09\u300d\u306b\u3088\u308b\u30b1\u30fc\u30b9\u3082\u591a\u304f\u3001\u3053\u306e\u5834\u5408\u306f\u5144\u5f1f\u59c9\u59b9\u3078\u306e\u518d\u767a\u30ea\u30b9\u30af\u306f\u4e00\u822c\u306e\u592b\u5a66\u3068\u540c\u7a0b\u5ea6\u306b\u4f4e\u3044\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"GCPS%E3%81%AFNIPT%E3%81%A7%E3%82%8F%E3%81%8B%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span>GCPS\u306fNIPT\u3067\u308f\u304b\u308a\u307e\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u57fa\u672c\u7684\u306aNIPT\uff0821\u30fb18\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/patau-syndrome\/\">13\u30c8\u30ea\u30bd\u30df\u30fc<\/a>\u7b49\u306e\u67d3\u8272\u4f53\u6570\u306e\u7570\u5e38\u3092\u8abf\u3079\u308b\u691c\u67fb\uff09\u306e\u5bfe\u8c61\u306b\u306f\u542b\u307e\u308c\u307e\u305b\u3093\u3002GCPS\u306f\u67d3\u8272\u4f53\u306e\u6570\u3067\u306f\u306a\u304fGLI3\u907a\u4f1d\u5b501\u3064\u306e\u5909\u5316\u3067\u8d77\u3053\u308b\u305f\u3081\u3067\u3059\u3002\u5bb6\u65cf\u5185\u306bGCPS\u306e\u65b9\u304c\u3044\u308b\u5834\u5408\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chorionic-villus-test\/\">\u7d68\u6bdb\u691c\u67fb<\/a>\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u3067GLI3\u907a\u4f1d\u5b50\u3092\u76f4\u63a5\u8abf\u3079\u308b\u78ba\u5b9a\u7684\u691c\u67fb\u304c\u9078\u629e\u80a2\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%89%8B%E8%B6%B3%E3%81%AE%E6%89%8B%E8%A1%93%E3%81%AF%E3%81%84%E3%81%A4%E5%8F%97%E3%81%91%E3%82%8B%E3%81%B9%E3%81%8D%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u624b\u8db3\u306e\u624b\u8853\u306f\u3044\u3064\u53d7\u3051\u308b\u3079\u304d\u3067\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u591a\u6307\u75c7\u306e\u624b\u306e\u624b\u8853\u306f1\u6b73\u524d\u5f8c\u3001\u8db3\u306f\u6b69\u304d\u59cb\u3081\u308b1\u6b73\u9803\u307e\u3067\u304c\u4e00\u822c\u7684\u306a\u76ee\u5b89\u3067\u3059\u3002\u5408\u6307\u75c7\u306e\u624b\u8853\u306f1\u301c2\u6b73\u9803\u304b\u3089\u5c31\u5b66\u524d\u307e\u3067\u306b\u884c\u308f\u308c\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u3044\u305a\u308c\u3082\u62c5\u5f53\u306e\u5f62\u6210\u5916\u79d1\u533b\u30fb\u6574\u5f62\u5916\u79d1\u533b\u3068\u6642\u671f\u3092\u76f8\u8ac7\u3057\u306a\u304c\u3089\u9032\u3081\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%A0%AD%E3%81%8C%E5%A4%A7%E3%81%8D%E3%81%84%E3%81%93%E3%81%A8%E3%81%A7%E8%84%B3%E3%81%AB%E5%95%8F%E9%A1%8C%E3%81%8C%E3%81%82%E3%82%8B%E3%81%AE%E3%81%A7%E3%81%AF%E3%81%A8%E5%BF%83%E9%85%8D%E3%81%A7%E3%81%99%E3%80%82\"><\/span>\u982d\u304c\u5927\u304d\u3044\u3053\u3068\u3067\u8133\u306b\u554f\u984c\u304c\u3042\u308b\u306e\u3067\u306f\u3068\u5fc3\u914d\u3067\u3059\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>GCPS\u306e\u5927\u982d\u75c7\u306e\u591a\u304f\u306f\u3001\u8133\u306e\u6a5f\u80fd\u306b\u554f\u984c\u306e\u306a\u3044\u826f\u6027\u306e\u5927\u982d\u75c7\u3067\u3059\u3002\u5ff5\u306e\u305f\u3081CT\u30fbMRI\u3067\u6c34\u982d\u75c7\u306a\u3069\u8133\u306e\u69cb\u9020\u7570\u5e38\u304c\u306a\u3044\u304b\u3092\u78ba\u8a8d\u3057\u307e\u3059\u304c\u3001\u591a\u304f\u306f\u300c\u7570\u5e38\u306a\u3057\u300d\u307e\u305f\u306f\u300c\u826f\u6027\u306e\u62e1\u5927\u300d\u3068\u8a3a\u65ad\u3055\u308c\u3001\u7d4c\u904e\u89b3\u5bdf\u306e\u307f\u3067\u554f\u984c\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%BC%BC%E3%81%A6%E3%81%84%E3%82%8B%E7%97%85%E6%B0%97%E3%81%AB%E3%81%AF%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E3%82%82%E3%81%AE%E3%81%8C%E3%81%82%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u4f3c\u3066\u3044\u308b\u75c5\u6c17\u306b\u306f\u3069\u306e\u3088\u3046\u306a\u3082\u306e\u304c\u3042\u308a\u307e\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u540c\u3058GLI3\u907a\u4f1d\u5b50\u306e\u5909\u5316\u3067\u8d77\u3053\u308b\u300c\u30d1\u30ea\u30b9\u30bf\u30fc\u30fb\u30db\u30fc\u30eb\u75c7\u5019\u7fa4\u300d\u306e\u307b\u304b\u3001\u30a2\u30af\u30ed\u30ab\u30ed\u30fc\u30b6\u30eb\u75c7\u5019\u7fa4\u306a\u3069\u3001\u591a\u6307\u75c7\u3084\u5927\u982d\u75c7\u3092\u4f34\u3046\u75be\u60a3\u304c\u8907\u6570\u3042\u308a\u307e\u3059\u3002\u898b\u305f\u76ee\u306e\u75c7\u72b6\u3060\u3051\u3067\u5224\u65ad\u305b\u305a\u3001\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u3067\u533a\u5225\u3059\u308b\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>\u76e3\u4fee\uff1a\u5ca1\u535a\u53f2\uff08\u304a\u304b \u3072\u308d\u3057\uff09<\/strong> \/ \u533b\u7642\u6cd5\u4eba\u793e\u56e3\u798f\u7f8e\u4f1a \u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u7d71\u62ec\u9662\u9577\u30fbLabo 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