{"id":121604,"date":"2026-01-07T13:52:15","date_gmt":"2026-01-07T04:52:15","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=121604"},"modified":"2026-07-14T05:29:30","modified_gmt":"2026-07-13T20:29:30","slug":"5q14-3-deletion-syndrome","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/5q14-3-deletion-syndrome\/","title":{"rendered":"5q14.3\u6b20\u5931\u75c7\u5019\u7fa4\uff08MEF2C\u30cf\u30d7\u30ed\u4e0d\u5168\u75c7\u5019\u7fa4\uff09"},"content":{"rendered":"\n<p><strong>\u304a\u5b50\u69d8\u304c\u300c5q14.3\u6b20\u5931\u75c7\u5019\u7fa4\u300d\u3068\u8a3a\u65ad\u3055\u308c\u3001\u805e\u304d\u6163\u308c\u306a\u3044\u75c5\u540d\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\u3002\u3053\u306e\u75c5\u6c17\u306f5\u756a\u67d3\u8272\u4f53\u306e\u9577\u815514.3\u9818\u57df\u304c\u751f\u307e\u308c\u3064\u304d\u308f\u305a\u304b\u306b\u6b20\u3051\u3066\u3044\u308b\u3053\u3068\u3067\u8d77\u3053\u308b\u3001\u6975\u3081\u3066\u7a00\u306a\u67d3\u8272\u4f53\u75be\u60a3\u3067\u3059\u3002<\/strong>\u3053\u306e\u9818\u57df\u306b\u3042\u308b\u300cMEF2C\u907a\u4f1d\u5b50\u300d\u306e\u50cd\u304d\u304c\u4e0d\u8db3\u3059\u308b\u3053\u3068\u3067\u3001\u767a\u9054\u306e\u9045\u308c\u3084\u3066\u3093\u304b\u3093\u306a\u3069\u306e\u75c7\u72b6\u304c\u73fe\u308c\u307e\u3059\u3002\u305d\u306e\u305f\u3081\u300cMEF2C\u30cf\u30d7\u30ed\u4e0d\u5168\u75c7\u5019\u7fa4\u300d\u3068\u3082\u547c\u3070\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u8a18\u4e8b\u3067\u306f\u3001\u539f\u56e0\u3068\u306a\u308b\u67d3\u8272\u4f53\u306e\u5909\u5316\u304b\u3089\u3001\u4e3b\u306a\u75c7\u72b6\u3001\u907a\u4f1d\u5f62\u5f0f\u307e\u3067\u3092\u6574\u7406\u3057\u307e\u3059\u3002\u8a3a\u65ad\u306e\u6d41\u308c\u3001NIPT\u3068\u306e\u95a2\u4fc2\u3001\u6cbb\u7642\u3068\u652f\u63f4\u4f53\u5236\u3082\u3042\u308f\u305b\u3066\u304a\u4f1d\u3048\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7c73\u56fd\u56fd\u7acb\u533b\u5b66\u56f3\u66f8\u9928\u306eGeneReviews\u3001\u65e5\u672c\u7523\u79d1\u5a66\u4eba\u79d1\u5b66\u4f1a\u3001\u539a\u751f\u52b4\u50cd\u7701\u306a\u3069\u306e\u516c\u7684\u30fb\u5b66\u8853\u60c5\u5831\u306b\u3082\u3068\u3065\u3044\u3066\u3044\u307e\u3059\u3002\u60c5\u5831\u304c\u5c11\u306a\u3044\u5e0c\u5c11\u75be\u60a3\u3060\u304b\u3089\u3053\u305d\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>5q14.3\u6b20\u5931\u75c7\u5019\u7fa4\uff08MEF2C\u30cf\u30d7\u30ed\u4e0d\u5168\u75c7\u5019\u7fa4\uff09\u304c\u3069\u306e\u3088\u3046\u306a\u67d3\u8272\u4f53\u306e\u5909\u5316\u306a\u306e\u304b<\/li>\n<li>GeneReviews\u306b\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u767a\u9054\u30fb\u3066\u3093\u304b\u3093\u30fb\u884c\u52d5\u9762\u306e\u4e3b\u306a\u75c7\u72b6<\/li>\n<li>\u539f\u56e0\u306e\u591a\u304f\u304c\u30c7\u30ce\u30dc\u3067\u3042\u308b\u7406\u7531\u3068\u3001\u307e\u308c\u306b\u3042\u308b\u5bb6\u65cf\u5185\u4f1d\u9054\u306e\u30b1\u30fc\u30b9<\/li>\n<li>\u78ba\u5b9a\u8a3a\u65ad\u307e\u3067\u306e\u691c\u67fb\u306e\u6d41\u308c\uff08<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u691c\u67fb\u30fb\u907a\u4f1d\u5b50\u89e3\u6790\uff09<\/li>\n<li>NIPT\u3067\u3053\u306e\u75c5\u6c17\u304c\u5bfe\u8c61\u306b\u306a\u308b\u30b1\u30fc\u30b9\u3068\u306a\u3089\u306a\u3044\u30b1\u30fc\u30b9<\/li>\n<li>\u6cbb\u7642\u306e\u8003\u3048\u65b9\u3068\u3001\u65e5\u672c\u3067\u4f7f\u3048\u308b\u652f\u63f4\u5236\u5ea6<\/li>\n<\/ul>\n<\/div>\n\n\n\n<p>\u307e\u305a\u3001\u3053\u306e\u75c5\u6c17\u306e\u8981\u70b9\u30921\u679a\u306e\u8868\u306b\u307e\u3068\u3081\u307e\u3057\u305f\u3002\u5168\u4f53\u50cf\u3092\u3064\u304b\u3093\u3067\u304b\u3089\u3001\u8a73\u3057\u3044\u8aac\u660e\u306b\u9032\u3093\u3067\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<figure class=\"wp-table-block\"><table><thead><tr><th>\u9805\u76ee<\/th><th>\u5185\u5bb9<\/th><\/tr><\/thead><tbody><tr><td>\u539f\u56e0<\/td><td>5\u756a\u67d3\u8272\u4f53\u9577\u815514.3\u9818\u57df\u306e\u6b20\u5931\u3001\u307e\u305f\u306fMEF2C\u907a\u4f1d\u5b50\u306e\u70b9\u5909\u7570<\/td><\/tr><tr><td>\u907a\u4f1d\u5f62\u5f0f<\/td><td>\u591a\u304f\u306f\u30c7\u30ce\u30dc\uff08\u4e21\u89aa\u7531\u6765\u3067\u306f\u306a\u3044\uff09\u3002\u307e\u308c\u306b\u5bb6\u65cf\u5185\u4f1d\u9054\u3082\u3042\u308a<\/td><\/tr><tr><td>\u4e3b\u306a\u75c7\u72b6<\/td><td>\u767a\u9054\u306e\u9045\u308c\u3001\u3066\u3093\u304b\u3093\uff08\u5831\u544a\u4f8b\u306e86%\uff09\u3001\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff0895%\uff09\u3001\u6709\u610f\u8a9e\u306e\u7372\u5f97\u56f0\u96e3\uff0895%\uff09<\/td><\/tr><tr><td>\u78ba\u5b9a\u8a3a\u65ad<\/td><td>\u67d3\u8272\u4f53<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u691c\u67fb\uff08CMA\uff09\u3002\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0<\/td><\/tr><tr><td>NIPT\u3068\u306e\u95a2\u4fc2<\/td><td>\u57fa\u672cNIPT\u306e\u5bfe\u8c61\u5916\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u3092\u542b\u3080\u62e1\u5f35\u691c\u67fb\u3067\u5019\u88dc\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308b<\/td><\/tr><tr><td>\u6cbb\u7642<\/td><td>\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u306a\u3057\u3002\u3066\u3093\u304b\u3093\u6cbb\u7642\u30fb\u7642\u80b2\u30fb\u591a\u8077\u7a2e\u652f\u63f4\u304c\u4e2d\u5fc3<\/td><\/tr><tr><td>\u5831\u544a\u6570<\/td><td>\u6587\u732e\u4e0a142\u4f8b\u4ee5\u4e0a\uff08GeneReviews\uff09\u3002\u6b63\u78ba\u306a\u767a\u751f\u983b\u5ea6\u306f\u672a\u78ba\u7acb<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n\n\n\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_85 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">\u76ee\u6b21<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" height=\"10px\" viewBox=\"0 0 24 24\" version=\"1.2\" baseProfile=\"tiny\"><path d=\"M18.2 9.3l-6.2-6.3-6.2 6.3c-.2.2-.3.4-.3.7s.1.5.3.7c.2.2.4.3.7.3h11c.3 0 .5-.1.7-.3.2-.2.3-.5.3-.7s-.1-.5-.3-.7zM5.8 14.7l6.2 6.3 6.2-6.3c.2-.2.3-.5.3-.7s-.1-.5-.3-.7c-.2-.2-.4-.3-.7-.3h-11c-.3 0-.5.1-.7.3-.2.2-.3.5-.3.7s.1.5.3.7z\"\/><\/svg><\/span><\/span><\/span><\/a><\/span><\/div>\n<nav><ul class='ez-toc-list ez-toc-list-level-1 ' ><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-1\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/5q14-3-deletion-syndrome\/#1_5q143%E6%AC%A0%E5%A4%B1%E7%97%87%E5%80%99%E7%BE%A4%EF%BC%88MEF2C%E3%83%8F%E3%83%97%E3%83%AD%E4%B8%8D%E5%85%A8%E7%97%87%E5%80%99%E7%BE%A4%EF%BC%89%E3%81%A8%E3%81%AF\" >1. 5q14.3\u6b20\u5931\u75c7\u5019\u7fa4\uff08MEF2C\u30cf\u30d7\u30ed\u4e0d\u5168\u75c7\u5019\u7fa4\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\/5q14-3-deletion-syndrome\/#%E6%9F%93%E8%89%B2%E4%BD%93%E3%81%AE%E3%80%8C%E4%BD%8F%E6%89%80%E3%80%8D%E3%82%92%E7%90%86%E8%A7%A3%E3%81%99%E3%82%8B\" >\u67d3\u8272\u4f53\u306e\u300c\u4f4f\u6240\u300d\u3092\u7406\u89e3\u3059\u308b<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/5q14-3-deletion-syndrome\/#MEF2C%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AE%E5%BD%B9%E5%89%B2\" >MEF2C\u907a\u4f1d\u5b50\u306e\u5f79\u5272<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/5q14-3-deletion-syndrome\/#2_%E4%B8%BB%E3%81%AA%E7%97%87%E7%8A%B6%EF%BC%9A%E7%99%BA%E9%81%94%E3%83%BB%E3%81%A6%E3%82%93%E3%81%8B%E3%82%93%E3%83%BB%E8%A1%8C%E5%8B%95%E9%9D%A2%E3%81%AE%E7%89%B9%E5%BE%B4\" >2. \u4e3b\u306a\u75c7\u72b6\uff1a\u767a\u9054\u30fb\u3066\u3093\u304b\u3093\u30fb\u884c\u52d5\u9762\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-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/5q14-3-deletion-syndrome\/#%E7%99%BA%E9%81%94%E3%81%AE%E9%81%85%E3%82%8C%E3%81%A8%E8%A8%80%E8%AA%9E%E7%8D%B2%E5%BE%97%E3%81%AE%E9%9B%A3%E3%81%97%E3%81%95\" >\u767a\u9054\u306e\u9045\u308c\u3068\u8a00\u8a9e\u7372\u5f97\u306e\u96e3\u3057\u3055<\/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\/5q14-3-deletion-syndrome\/#%E3%81%A6%E3%82%93%E3%81%8B%E3%82%93%E3%81%A8%E7%AD%8B%E7%B7%8A%E5%BC%B5%E4%BD%8E%E4%B8%8B\" >\u3066\u3093\u304b\u3093\u3068\u7b4b\u7dca\u5f35\u4f4e\u4e0b<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/5q14-3-deletion-syndrome\/#%E8%A1%8C%E5%8B%95%E3%83%BB%E8%BA%AB%E4%BD%93%E7%9A%84%E3%81%AA%E7%89%B9%E5%BE%B4\" >\u884c\u52d5\u30fb\u8eab\u4f53\u7684\u306a\u7279\u5fb4<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/5q14-3-deletion-syndrome\/#3_%E5%8E%9F%E5%9B%A0%E3%81%A8%E9%81%BA%E4%BC%9D%E5%BD%A2%E5%BC%8F%EF%BC%9A%E3%83%87%E3%83%8E%E3%83%9C%E3%81%A8%E5%AE%B6%E6%97%8F%E5%86%85%E4%BC%9D%E9%81%94\" >3. \u539f\u56e0\u3068\u907a\u4f1d\u5f62\u5f0f\uff1a\u30c7\u30ce\u30dc\u3068\u5bb6\u65cf\u5185\u4f1d\u9054<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/5q14-3-deletion-syndrome\/#%E3%83%87%E3%83%8E%E3%83%9C%EF%BC%88%E5%81%B6%E7%99%BA%E7%9A%84%E3%81%AA%E5%A4%89%E5%8C%96%EF%BC%89%E3%81%AE%E3%82%B1%E3%83%BC%E3%82%B9\" >\u30c7\u30ce\u30dc\uff08\u5076\u767a\u7684\u306a\u5909\u5316\uff09\u306e\u30b1\u30fc\u30b9<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/5q14-3-deletion-syndrome\/#%E5%AE%B6%E6%97%8F%E5%86%85%E4%BC%9D%E9%81%94%E3%81%A8%E6%9F%93%E8%89%B2%E4%BD%93%E8%BB%A2%E5%BA%A7%E3%81%AE%E5%8F%AF%E8%83%BD%E6%80%A7\" >\u5bb6\u65cf\u5185\u4f1d\u9054\u3068\u67d3\u8272\u4f53\u8ee2\u5ea7\u306e\u53ef\u80fd\u6027<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/5q14-3-deletion-syndrome\/#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-12\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/5q14-3-deletion-syndrome\/#%E3%83%9E%E3%82%A4%E3%82%AF%E3%83%AD%E3%82%A2%E3%83%AC%E3%82%A4%E6%A4%9C%E6%9F%BB%EF%BC%88CMA%EF%BC%89\" >\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u691c\u67fb\uff08CMA\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\/5q14-3-deletion-syndrome\/#%E6%AC%A1%E4%B8%96%E4%BB%A3%E3%82%B7%E3%83%BC%E3%82%B1%E3%83%B3%E3%82%B7%E3%83%B3%E3%82%B0%EF%BC%88NGS%EF%BC%89\" >\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\uff08NGS\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/5q14-3-deletion-syndrome\/#%E8%84%B3%E6%B3%A2%E6%A4%9C%E6%9F%BB%E3%81%A8MRI\" >\u8133\u6ce2\u691c\u67fb\u3068MRI<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-15\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/5q14-3-deletion-syndrome\/#5_NIPT%E3%81%A8%E3%81%AE%E9%96%A2%E4%BF%82\" >5. NIPT\u3068\u306e\u95a2\u4fc2<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/5q14-3-deletion-syndrome\/#6_%E6%B2%BB%E7%99%82%E3%81%A8%E6%94%AF%E6%8F%B4%E4%BD%93%E5%88%B6%EF%BC%9A%E5%A4%9A%E8%81%B7%E7%A8%AE%E3%83%81%E3%83%BC%E3%83%A0%E3%81%AB%E3%82%88%E3%82%8B%E3%82%B5%E3%83%9D%E3%83%BC%E3%83%88\" >6. \u6cbb\u7642\u3068\u652f\u63f4\u4f53\u5236\uff1a\u591a\u8077\u7a2e\u30c1\u30fc\u30e0\u306b\u3088\u308b\u30b5\u30dd\u30fc\u30c8<\/a><\/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\/5q14-3-deletion-syndrome\/#7_%E4%BA%88%E5%BE%8C%E3%81%A8%E8%A6%8B%E9%80%9A%E3%81%97\" >7. \u4e88\u5f8c\u3068\u898b\u901a\u3057<\/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\/5q14-3-deletion-syndrome\/#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\" >8. \u3054\u5bb6\u65cf\u3078\u306e\u30e1\u30c3\u30bb\u30fc\u30b8<\/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\/5q14-3-deletion-syndrome\/#%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-20\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/5q14-3-deletion-syndrome\/#5q143%E6%AC%A0%E5%A4%B1%E7%97%87%E5%80%99%E7%BE%A4%E3%81%A8MEF2C%E3%83%8F%E3%83%97%E3%83%AD%E4%B8%8D%E5%85%A8%E7%97%87%E5%80%99%E7%BE%A4%E3%81%AF%E5%90%8C%E3%81%98%E7%97%85%E6%B0%97%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\" >5q14.3\u6b20\u5931\u75c7\u5019\u7fa4\u3068MEF2C\u30cf\u30d7\u30ed\u4e0d\u5168\u75c7\u5019\u7fa4\u306f\u540c\u3058\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-21\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/5q14-3-deletion-syndrome\/#%E3%81%A9%E3%81%AE%E3%81%8F%E3%82%89%E3%81%84%E3%81%AE%E9%A0%BB%E5%BA%A6%E3%81%A7%E8%B5%B7%E3%81%93%E3%82%8B%E7%97%85%E6%B0%97%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\" >\u3069\u306e\u304f\u3089\u3044\u306e\u983b\u5ea6\u3067\u8d77\u3053\u308b\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-22\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/5q14-3-deletion-syndrome\/#%E3%81%93%E3%81%AE%E7%97%85%E6%B0%97%E3%81%AFNIPT%E3%81%A7%E5%88%86%E3%81%8B%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >\u3053\u306e\u75c5\u6c17\u306fNIPT\u3067\u5206\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-23\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/5q14-3-deletion-syndrome\/#%E9%81%BA%E4%BC%9D%E6%80%A7%E3%81%AE%E7%97%85%E6%B0%97%E3%81%A7%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\" >\u907a\u4f1d\u6027\u306e\u75c5\u6c17\u3067\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\/5q14-3-deletion-syndrome\/#%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E6%A4%9C%E6%9F%BB%E3%81%A7%E7%A2%BA%E5%AE%9A%E8%A8%BA%E6%96%AD%E3%81%95%E3%82%8C%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >\u3069\u306e\u3088\u3046\u306a\u691c\u67fb\u3067\u78ba\u5b9a\u8a3a\u65ad\u3055\u308c\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\/5q14-3-deletion-syndrome\/#%E3%81%A6%E3%82%93%E3%81%8B%E3%82%93%E3%81%AF%E3%81%A9%E3%81%AE%E3%81%8F%E3%82%89%E3%81%84%E3%81%AE%E7%A2%BA%E7%8E%87%E3%81%A7%E8%B5%B7%E3%81%93%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >\u3066\u3093\u304b\u3093\u306f\u3069\u306e\u304f\u3089\u3044\u306e\u78ba\u7387\u3067\u8d77\u3053\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_5q143%E6%AC%A0%E5%A4%B1%E7%97%87%E5%80%99%E7%BE%A4%EF%BC%88MEF2C%E3%83%8F%E3%83%97%E3%83%AD%E4%B8%8D%E5%85%A8%E7%97%87%E5%80%99%E7%BE%A4%EF%BC%89%E3%81%A8%E3%81%AF\"><\/span><strong>1. 5q14.3\u6b20\u5931\u75c7\u5019\u7fa4\uff08MEF2C\u30cf\u30d7\u30ed\u4e0d\u5168\u75c7\u5019\u7fa4\uff09\u3068\u306f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>5q14.3\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u30015\u756a\u67d3\u8272\u4f53\u306e\u9577\u815514.3\u9818\u57df\u304c\u6b20\u3051\u308b\u96a3\u63a5\u907a\u4f1d\u5b50\u75c7\u5019\u7fa4\u3067\u3059\u3002<\/strong>\u3053\u306e\u9818\u57df\u306b\u306f\u3001\u8133\u306e\u767a\u9054\u306b\u6b20\u304b\u305b\u306a\u3044MEF2C\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%9F%93%E8%89%B2%E4%BD%93%E3%81%AE%E3%80%8C%E4%BD%8F%E6%89%80%E3%80%8D%E3%82%92%E7%90%86%E8%A7%A3%E3%81%99%E3%82%8B\"><\/span><strong>\u67d3\u8272\u4f53\u306e\u300c\u4f4f\u6240\u300d\u3092\u7406\u89e3\u3059\u308b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u79c1\u305f\u3061\u306e\u7d30\u80de\u306b\u306f\u300146\u672c\uff0823\u5bfe\uff09\u306e\u67d3\u8272\u4f53\u304c\u53ce\u3081\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u67d3\u8272\u4f53\u306f\u4e2d\u5fc3\uff08\u52d5\u539f\u4f53\uff09\u3092\u5883\u306b\u3001\u77ed\u3044\u65b9\u3092\u300cp\uff08\u77ed\u8155\uff09\u300d\u3001\u9577\u3044\u65b9\u3092\u300cq\uff08\u9577\u8155\uff09\u300d\u3068\u547c\u3073\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>5\u756a\u67d3\u8272\u4f53\uff1a\u30d2\u30c8\u306e\u67d3\u8272\u4f53\u306e\u4e2d\u3067\u3082\u5927\u304d\u3044\u90e8\u985e\u306b\u5165\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>q14.3\uff1a\u9577\u8155\u306e\u7279\u5b9a\u306e\u533a\u753b\u3092\u793a\u3059\u300c\u4f4f\u6240\u300d\u306e\u3088\u3046\u306a\u8868\u8a18\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u6b20\u5931\uff1a\u672c\u6765\u3042\u308b\u907a\u4f1d\u60c5\u5831\u306e\u4e00\u90e8\u304c\u3001\u3054\u304f\u308f\u305a\u304b\u306b\u5931\u308f\u308c\u3066\u3044\u308b\u72b6\u614b\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u6570\u5b57\u306e\u4e26\u3073\u3060\u3051\u3092\u898b\u308b\u3068\u96e3\u3057\u304f\u611f\u3058\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002\u6307\u3057\u793a\u3057\u3066\u3044\u308b\u306e\u306f\u3001\u67d3\u8272\u4f53\u4e0a\u306e\u3054\u304f\u5c0f\u3055\u306a\u4e00\u533a\u753b\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"MEF2C%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AE%E5%BD%B9%E5%89%B2\"><\/span><strong>MEF2C\u907a\u4f1d\u5b50\u306e\u5f79\u5272<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>MEF2C\u907a\u4f1d\u5b50\u306f\u3001\u8133\u306e\u795e\u7d4c\u7d30\u80de\u304c\u6b63\u3057\u304f\u4f5c\u3089\u308c\u3001\u3064\u306a\u304c\u308b\u305f\u3081\u306b\u6b20\u304b\u305b\u306a\u3044\u8ee2\u5199\u56e0\u5b50\u306e\u4e00\u3064\u3067\u3059\u3002<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK610216\/\" target=\"_blank\" rel=\"noopener\">\u7c73\u56fd\u56fd\u7acb\u533b\u5b66\u56f3\u66f8\u9928\u306eGeneReviews<\/a>\u306b\u3088\u308b\u3068\u3001\u539f\u56e0\u306e65\u301c70%\u306fMEF2C\u907a\u4f1d\u5b50\u81ea\u4f53\u306e\u70b9\u5909\u7570\u3067\u3059\u3002\u6b8b\u308b30\u301c35%\u306f\u30015q14.3\u9818\u57df\u3092\u542b\u3080\u6b20\u5931\u306b\u3088\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7236\u7531\u6765\u30fb\u6bcd\u7531\u6765\u306e2\u3064\u3042\u308b\u3079\u304d\u30b3\u30d4\u30fc\u306e\u3046\u3061\u3001\u7247\u65b9\u304c\u50cd\u304b\u306a\u304f\u306a\u308b\u3053\u3068\u3067\u75c7\u72b6\u304c\u73fe\u308c\u307e\u3059\u3002\u305d\u306e\u305f\u3081\u300c\u30cf\u30d7\u30ed\u4e0d\u5168\u300d\u3068\u547c\u3070\u308c\u307e\u3059\u3002<\/p>\n\n\n\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%E7%99%BA%E9%81%94%E3%83%BB%E3%81%A6%E3%82%93%E3%81%8B%E3%82%93%E3%83%BB%E8%A1%8C%E5%8B%95%E9%9D%A2%E3%81%AE%E7%89%B9%E5%BE%B4\"><\/span><strong>2. \u4e3b\u306a\u75c7\u72b6\uff1a\u767a\u9054\u30fb\u3066\u3093\u304b\u3093\u30fb\u884c\u52d5\u9762\u306e\u7279\u5fb4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u767a\u9054\u306e\u9045\u308c\u3001\u3066\u3093\u304b\u3093\u3001\u7279\u5fb4\u7684\u306a\u884c\u52d5\u304c\u4e2d\u5fc3\u3067\u3001\u73fe\u308c\u65b9\u306b\u306f\u500b\u4eba\u5dee\u304c\u5927\u304d\u3044\u3053\u3068\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/strong>\u6b20\u5931\u306e\u7bc4\u56f2\u306b\u3088\u3063\u3066\u91cd\u3055\u3082\u7570\u306a\u308b\u305f\u3081\u3001\u4ee5\u4e0b\u304c\u3059\u3079\u3066\u306e\u304a\u5b50\u69d8\u306b\u5f53\u3066\u306f\u307e\u308b\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%99%BA%E9%81%94%E3%81%AE%E9%81%85%E3%82%8C%E3%81%A8%E8%A8%80%E8%AA%9E%E7%8D%B2%E5%BE%97%E3%81%AE%E9%9B%A3%E3%81%97%E3%81%95\"><\/span><strong>\u767a\u9054\u306e\u9045\u308c\u3068\u8a00\u8a9e\u7372\u5f97\u306e\u96e3\u3057\u3055<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>GeneReviews\u304c\u307e\u3068\u3081\u305f\u5831\u544a\u3067\u306f\u3001\u767a\u9054\u306e\u9045\u308c\u306f\u4e2d\u7b49\u5ea6\u304b\u3089\u91cd\u5ea6\u306b\u53ca\u3076\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u9996\u5ea7\u308a\u3084\u6b69\u884c\u306a\u3069\u3001\u7c97\u5927\u904b\u52d5\u306e\u767a\u9054\u304c\u3086\u3063\u304f\u308a\u9032\u307f\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u767a\u8a9e<\/strong>\uff1a\u5831\u544a\u4f8b\u306e95%\u3067\u6709\u610f\u8a9e\uff08\u610f\u5473\u306e\u3042\u308b\u8a00\u8449\uff09\u306e\u7372\u5f97\u304c\u96e3\u3057\u3044\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6b69\u884c<\/strong>\uff1a\u72ec\u6b69\uff08\u4e00\u4eba\u6b69\u304d\uff09\u304c\u3067\u304d\u306a\u3044\u65b9\u304c\u5831\u544a\u4f8b\u306e\u7d04\u534a\u6570\u306b\u306e\u307c\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\uff1a\u8996\u7dda\u5165\u529b\u88c5\u7f6e\u3084\u30ab\u30fc\u30c9\u306a\u3069\u3001\u8a00\u8449\u306b\u983c\u3089\u306a\u3044\u624b\u6bb5\u304c\u652f\u3048\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u8a00\u8449\u304c\u51fa\u306a\u304f\u3066\u3082\u3001\u5468\u56f2\u306e\u72b6\u6cc1\u3092\u7406\u89e3\u3057\u3066\u3044\u308b\u5834\u5408\u304c\u5c11\u306a\u304f\u3042\u308a\u307e\u305b\u3093\u3002\u8868\u73fe\u306e\u624b\u6bb5\u3092\u4e00\u7dd2\u306b\u63a2\u3059\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%A6%E3%82%93%E3%81%8B%E3%82%93%E3%81%A8%E7%AD%8B%E7%B7%8A%E5%BC%B5%E4%BD%8E%E4%B8%8B\"><\/span><strong>\u3066\u3093\u304b\u3093\u3068\u7b4b\u7dca\u5f35\u4f4e\u4e0b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3066\u3093\u304b\u3093\u306e\u5408\u4f75\u7387\u306f\u9ad8\u304f\u3001GeneReviews\u3067\u306fMEF2C\u95a2\u9023\u75be\u60a3\u5168\u4f53\u306e86%\u306b\u767a\u4f5c\u304c\u307f\u3089\u308c\u305f\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u767a\u4f5c\u578b\uff1a\u71b1\u6027\u3051\u3044\u308c\u3093\u3001\u30df\u30aa\u30af\u30ed\u30cb\u30fc\u767a\u4f5c\u3001\u70b9\u982d\u3066\u3093\u304b\u3093\uff08\u30a6\u30a8\u30b9\u30c8\u75c7\u5019\u7fa4\uff09\u306a\u3069\u591a\u69d8\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u767a\u75c7\u6642\u671f\uff1a\u4e73\u5150\u671f\u304b\u3089\u59cb\u307e\u308b\u3053\u3068\u304c\u591a\u3044\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff1a\u5831\u544a\u4f8b\u306e95%\u306b\u307f\u3089\u308c\u3001\u59ff\u52e2\u306e\u4fdd\u6301\u3084\u6442\u98df\u306e\u96e3\u3057\u3055\u306b\u3064\u306a\u304c\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u85ac\u3067\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3057\u3084\u3059\u3044\u5834\u5408\u3082\u3042\u308c\u3070\u3001\u8907\u6570\u306e\u85ac\u3092\u7d44\u307f\u5408\u308f\u305b\u308b\u96e3\u6cbb\u6027\u306e\u30b1\u30fc\u30b9\u3082\u3042\u308a\u307e\u3059\u3002\u9375\u3068\u306a\u308b\u306e\u306f\u3001\u5c0f\u5150\u795e\u7d4c\u79d1\u533b\u3068\u306e\u7d99\u7d9a\u7684\u306a\u9023\u643a\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%A1%8C%E5%8B%95%E3%83%BB%E8%BA%AB%E4%BD%93%E7%9A%84%E3%81%AA%E7%89%B9%E5%BE%B4\"><\/span><strong>\u884c\u52d5\u30fb\u8eab\u4f53\u7684\u306a\u7279\u5fb4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u624b\u3092\u53e3\u5143\u306b\u904b\u3076\u3001\u624b\u3092\u63c9\u3080\u3068\u3044\u3063\u305f\u5e38\u540c\u7684\u306a\u52d5\u304d\u304c\u7e70\u308a\u8fd4\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u7761\u7720\u306e\u30ea\u30ba\u30e0\u304c\u4e71\u308c\u3084\u3059\u3044\u70b9\u3082\u3001\u3054\u5bb6\u65cf\u306e\u8ca0\u62c5\u306b\u306a\u308a\u304c\u3061\u3067\u3059\u3002<\/p>\n\n\n\n<p>GeneReviews\u306f\u3001\u9854\u7acb\u3061\u306e\u7279\u5fb4\u3068\u3057\u3066\u5e83\u3044\u984d\u3001\u76ee\u7acb\u3064\u4eba\u4e2d\u3001\u6b6f\u306e\u9593\u9694\u306e\u5e83\u3055\u3001\u5927\u304d\u3081\u306e\u8033\u3092\u6319\u3052\u3066\u3044\u307e\u3059\u3002\u5fc3\u81d3\u306e\u5f62\u614b\u7570\u5e38\u3084\u8996\u529b\u306e\u554f\u984c\u3001\u6442\u98df\u306e\u96e3\u3057\u3055\u3092\u4f34\u3046\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u9855\u8457\u306a\u5947\u5f62\u3092\u4f34\u3046\u3053\u3068\u306f\u7a00\u3067\u3059\u3002\u7279\u5fb4\u306e\u7d44\u307f\u5408\u308f\u305b\u306f\u4e00\u4eba\u3072\u3068\u308a\u7570\u306a\u308a\u307e\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%E3%81%A8%E9%81%BA%E4%BC%9D%E5%BD%A2%E5%BC%8F%EF%BC%9A%E3%83%87%E3%83%8E%E3%83%9C%E3%81%A8%E5%AE%B6%E6%97%8F%E5%86%85%E4%BC%9D%E9%81%94\"><\/span><strong>3. \u539f\u56e0\u3068\u907a\u4f1d\u5f62\u5f0f\uff1a\u30c7\u30ce\u30dc\u3068\u5bb6\u65cf\u5185\u4f1d\u9054<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u5831\u544a\u3055\u308c\u305f\u75c7\u4f8b\u306e\u591a\u304f\u306f\u3001\u3054\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u306b\u5909\u5316\u304c\u306a\u3044\u7a81\u7136\u5909\u7570\uff08\u30c7\u30ce\u30dc\uff09\u306b\u3088\u308b\u3082\u306e\u3067\u3059\u3002<\/strong>\u598a\u5a20\u4e2d\u306e\u751f\u6d3b\u3084\u98df\u4e8b\u304c\u539f\u56e0\u306b\u306a\u308b\u3082\u306e\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%83%87%E3%83%8E%E3%83%9C%EF%BC%88%E5%81%B6%E7%99%BA%E7%9A%84%E3%81%AA%E5%A4%89%E5%8C%96%EF%BC%89%E3%81%AE%E3%82%B1%E3%83%BC%E3%82%B9\"><\/span><strong>\u30c7\u30ce\u30dc\uff08\u5076\u767a\u7684\u306a\u5909\u5316\uff09\u306e\u30b1\u30fc\u30b9<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u7cbe\u5b50\u3084\u5375\u5b50\u304c\u4f5c\u3089\u308c\u308b\u904e\u7a0b\u3067\u3001\u5076\u7136\u30b3\u30d4\u30fc\u30df\u30b9\u306e\u3088\u3046\u306a\u5909\u5316\u304c\u8d77\u304d\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u79c1\u306f\u5916\u6765\u3067\u3001\u3054\u81ea\u8eab\u3092\u8cac\u3081\u308b\u3054\u5bb6\u65cf\u306b\u304a\u4f1a\u3044\u3057\u307e\u3059\u3002\u305d\u306e\u305f\u3073\u306b\u3001\u3053\u306e\u70b9\u3092\u4e01\u5be7\u306b\u304a\u4f1d\u3048\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%AE%B6%E6%97%8F%E5%86%85%E4%BC%9D%E9%81%94%E3%81%A8%E6%9F%93%E8%89%B2%E4%BD%93%E8%BB%A2%E5%BA%A7%E3%81%AE%E5%8F%AF%E8%83%BD%E6%80%A7\"><\/span><strong>\u5bb6\u65cf\u5185\u4f1d\u9054\u3068\u67d3\u8272\u4f53\u8ee2\u5ea7\u306e\u53ef\u80fd\u6027<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306f\u5e38\u67d3\u8272\u4f53\u9855\u6027\uff08\u512a\u6027\uff09\u306b\u6e96\u3058\u305f\u4f1d\u308f\u308a\u65b9\u3092\u3059\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u307e\u308c\u306b\u3001\u3054\u4e21\u89aa\u306e\u3069\u3061\u3089\u304b\u304c\u540c\u3058\u5909\u5316\u3092\u8efd\u3044\u75c7\u72b6\u306e\u307e\u307e\u6301\u3063\u3066\u3044\u308b\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u3054\u4e21\u89aa\u306e\u3069\u3061\u3089\u304b\u304c\u300c\u5747\u8861\u578b\u8ee2\u5ea7\u300d\u3092\u6301\u3064\u30b1\u30fc\u30b9\u3082\u307e\u308c\u306b\u3042\u308a\u307e\u3059\u3002\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u5165\u308c\u66ff\u308f\u3063\u3066\u3044\u308b\u3060\u3051\u3067\u3001\u60c5\u5831\u306e\u904e\u4e0d\u8db3\u306f\u306a\u3044\u72b6\u614b\u3067\u3059\u3002\u6b21\u306e\u304a\u5b50\u69d8\u3078\u306e\u5f71\u97ff\u3092\u8003\u3048\u308b\u3046\u3048\u3067\u3001\u5c02\u9580\u306e\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3092\u53d7\u3051\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\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>\u78ba\u5b9a\u8a3a\u65ad\u306b\u306f\u3001\u67d3\u8272\u4f53<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u691c\u67fb\uff08CMA\uff09\u304c\u4e2d\u5fc3\u7684\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u307e\u3059\u3002<\/strong>\u4e00\u822c\u7684\u306a\u8840\u6db2\u691c\u67fb\u3084\u753b\u50cf\u691c\u67fb\u3060\u3051\u3067\u306f\u8a3a\u65ad\u3067\u304d\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%83%9E%E3%82%A4%E3%82%AF%E3%83%AD%E3%82%A2%E3%83%AC%E3%82%A4%E6%A4%9C%E6%9F%BB%EF%BC%88CMA%EF%BC%89\"><\/span><strong>\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u691c\u67fb\uff08CMA\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u9855\u5fae\u93e1\u3067\u306f\u898b\u3048\u306a\u3044\u5fae\u7d30\u306a\u6b20\u5931\u3084\u91cd\u8907\u3092\u3001\u30c1\u30c3\u30d7\u3092\u4f7f\u3063\u3066\u7db2\u7f85\u7684\u306b\u8abf\u3079\u308b\u691c\u67fb\u3067\u3059\u3002\u73fe\u5728\u306e\u8a3a\u65ad\u306b\u304a\u3051\u308b\u7b2c\u4e00\u9078\u629e\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u691c\u67fb\u306b\u3088\u308a\u30015q14.3\u9818\u57df\u306e\u6b20\u5931\u3092\u78ba\u5b9f\u306b\u7279\u5b9a\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%AC%A1%E4%B8%96%E4%BB%A3%E3%82%B7%E3%83%BC%E3%82%B1%E3%83%B3%E3%82%B7%E3%83%B3%E3%82%B0%EF%BC%88NGS%EF%BC%89\"><\/span><strong>\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\uff08NGS\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>MEF2C\u907a\u4f1d\u5b50\u5185\u306e\u70b9\u5909\u7570\u304c\u539f\u56e0\u306e\u5834\u5408\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u691c\u67fb<\/a>\u3060\u3051\u3067\u306f\u898b\u3064\u304b\u3089\u306a\u3044\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u305d\u306e\u969b\u306f\u3001\u907a\u4f1d\u5b50\u306e\u914d\u5217\u3092\u4e00\u3064\u305a\u3064\u8aad\u307f\u89e3\u304f\u89e3\u6790\u304c\u884c\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%84%B3%E6%B3%A2%E6%A4%9C%E6%9F%BB%E3%81%A8MRI\"><\/span><strong>\u8133\u6ce2\u691c\u67fb\u3068MRI<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8133\u6ce2\u691c\u67fb\u3067\u3066\u3093\u304b\u3093\u306e\u6709\u7121\u3084\u8133\u306e\u6d3b\u52d5\u72b6\u614b\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002MRI\u3067\u306f\u3001\u8133\u6881\u306e\u4f4e\u5f62\u6210\u306a\u3069\u69cb\u9020\u4e0a\u306e\u5909\u5316\u304c\u306a\u3044\u304b\u3092\u8abf\u3079\u307e\u3059\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2026\/01\/24273313_s.webp\" alt=\"\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u67d3\u8272\u4f53\u691c\u67fb\u306e\u7d50\u679c\u3092\u533b\u5e2b\u3068\u78ba\u8a8d\u3059\u308b\u69d8\u5b50\u306e\u30a4\u30e1\u30fc\u30b8\" class=\"wp-image-121555\"\/><\/figure><\/div>\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"5_NIPT%E3%81%A8%E3%81%AE%E9%96%A2%E4%BF%82\"><\/span><strong>5. NIPT\u3068\u306e\u95a2\u4fc2<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>5q14.3\u306e\u6b20\u5931\u306f\u3001\u57fa\u672c\u7684\u306aNIPT\u306e\u5bfe\u8c61\u306b\u306f\u542b\u307e\u308c\u307e\u305b\u3093\u3002<\/strong><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u307e\u3067\u7bc4\u56f2\u3092\u5e83\u3052\u305f\u62e1\u5f35\u691c\u67fb\u3067\u521d\u3081\u3066\u5019\u88dc\u306b\u3042\u304c\u308b\u9818\u57df\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u4e00\u822c\u7684\u306a\u57fa\u672cNIPT\u304c\u8abf\u3079\u308b\u306e\u306f\u300121\u30fb18\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/patau-syndrome\/\">13\u30c8\u30ea\u30bd\u30df\u30fc<\/a>\u3068\u3044\u3046\u67d3\u8272\u4f53\u306e\u300c\u6570\u300d\u306e\u5909\u5316\u304c\u4e2d\u5fc3\u3067\u3059\u3002\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30afNIPT\u3067\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u30fb\u91cd\u8907\u3092\u542b\u3080143\u7a2e\u306e\u9805\u76ee\u3092\u5bfe\u8c61\u3068\u3057\u305f\u62e1\u5f35\u691c\u67fb\u3092\u63d0\u4f9b\u3057\u3066\u3044\u307e\u3059\u3002\u3053\u3046\u3057\u305f\u7a00\u306a\u6b20\u5931\u3082\u5bfe\u8c61\u3068\u306a\u308a\u5f97\u307e\u3059\u3002\u691c\u67fb\u306f\u56fd\u5185\u306e\u691c\u67fb\u6a5f\u95a2\uff08\u6771\u4eac\u885b\u751f\u691c\u67fb\u6240\uff09\u3067\u884c\u3046\u305f\u3081\u3001\u6700\u77ed2\u301c5\u65e5\u3067\u306e\u7d50\u679c\u5831\u544a\u304c\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u3053\u3067\u62bc\u3055\u3048\u3066\u304a\u304d\u305f\u3044\u306e\u306f\u3001<strong>NIPT\u306f\u3042\u304f\u307e\u3067\u975e\u78ba\u5b9a\u7684\u306a\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u691c\u67fb<\/strong>\u3060\u3068\u3044\u3046\u70b9\u3067\u3059\u3002\u516c\u76ca\u793e\u56e3\u6cd5\u4eba\u65e5\u672c\u7523\u79d1\u5a66\u4eba\u79d1\u5b66\u4f1a\u306e<a href=\"https:\/\/www.jsog.or.jp\/news\/pdf\/NIPT_kaiteishishin.pdf\" target=\"_blank\" rel=\"noopener\">NIPT\u306b\u95a2\u3059\u308b\u6307\u91dd<\/a>\u3067\u3082\u3001\u7d50\u679c\u306f\u78ba\u5b9a\u8a3a\u65ad\u3067\u306f\u306a\u3044\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u539a\u751f\u52b4\u50cd\u7701\u306e<a href=\"https:\/\/www.mhlw.go.jp\/content\/000783387.pdf\" target=\"_blank\" rel=\"noopener\">NIPT\u7b49\u306e\u51fa\u751f\u524d\u691c\u67fb\u306b\u95a2\u3059\u308b\u5c02\u9580\u59d4\u54e1\u4f1a\u5831\u544a\u66f8<\/a>\u3067\u3082\u3001\u62e1\u5f35\u691c\u67fb\u306b\u306f\u5206\u6790\u7684\u30fb\u81e8\u5e8a\u7684\u306a\u9650\u754c\u304c\u3042\u308b\u3068\u6307\u6458\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/obgyn\/\">\u7523\u5a66\u4eba\u79d1<\/a>\u533b\u306e<a href=\"https:\/\/x.com\/junmurot\" target=\"_blank\" rel=\"noopener\">@junmurot<\/a>\u3055\u3093\u3082\u300121\u30c8\u30ea\u30bd\u30df\u30fc\u3067NIPT\u306e\u6027\u80fd\u304c\u9ad8\u304f\u3066\u3082\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u306b\u540c\u3058\u7cbe\u5ea6\u306f\u5f53\u3066\u306f\u307e\u3089\u306a\u3044\u3068X\u3067\u6307\u6458\u3057\u3066\u3044\u307e\u3057\u305f\u3002\u611f\u5ea6\u30fb\u7279\u7570\u5ea6\u304c\u307e\u3060\u78ba\u7acb\u3057\u3066\u3044\u306a\u3044\u70b9\u3078\u306e\u6ce8\u610f\u3067\u3059\u3002\u62e1\u5f35\u691c\u67fb\u3092\u9078\u3076\u969b\u306f\u3001\u3053\u306e\u9650\u754c\u3092\u7406\u89e3\u3057\u305f\u3046\u3048\u3067\u5224\u65ad\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<p>\u4e00\u65b9\u3067\u3001\u7d50\u679c\u3092\u53d7\u3051\u53d6\u3063\u305f\u77ac\u9593\u306e\u5b89\u5835\u306e\u58f0\u3082\u898b\u3089\u308c\u307e\u3059\u3002X\u3067\u306f<a href=\"https:\/\/x.com\/azhanpn\" target=\"_blank\" rel=\"noopener\">@azhanpn<\/a>\u3055\u3093\u304c\u300113\u30fb18\u30fb21\u30c8\u30ea\u30bd\u30df\u30fc\u3060\u3051\u3067\u306a\u304f7\u7a2e\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u30fb\u91cd\u8907\u75be\u60a3\u3082\u9670\u6027\u3060\u3063\u305f\u3068\u5831\u544a\u3057\u3066\u3044\u307e\u3057\u305f\u3002\u300c\u3053\u308c\u3067\u5168\u3066\u304c\u5206\u304b\u308b\u308f\u3051\u3067\u306f\u306a\u3044\u3051\u3069\u4e00\u5b89\u5fc3\u300d\u3068\u3082\u3064\u3065\u3063\u3066\u3044\u307e\u3059\u3002\u9670\u6027\u306e\u7d50\u679c\u304c\u3059\u3079\u3066\u306e\u4e0d\u5b89\u3092\u6d88\u3059\u308f\u3051\u3067\u306f\u306a\u3044\u3001\u3068\u3044\u3046\u53d7\u3051\u6b62\u3081\u65b9\u306b\u5171\u611f\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u967d\u6027\u6240\u898b\u304c\u51fa\u305f\u5834\u5408\u306f\u3001\u307e\u305a\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u7d50\u679c\u306e\u610f\u5473\u3092\u78ba\u8a8d\u3057\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u306b\u3088\u308b\u78ba\u5b9a\u8a3a\u65ad\u306b\u9032\u3080\u304b\u3069\u3046\u304b\u3092\u3054\u592b\u5a66\u3067\u76f8\u8ac7\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"6_%E6%B2%BB%E7%99%82%E3%81%A8%E6%94%AF%E6%8F%B4%E4%BD%93%E5%88%B6%EF%BC%9A%E5%A4%9A%E8%81%B7%E7%A8%AE%E3%83%81%E3%83%BC%E3%83%A0%E3%81%AB%E3%82%88%E3%82%8B%E3%82%B5%E3%83%9D%E3%83%BC%E3%83%88\"><\/span><strong>6. \u6cbb\u7642\u3068\u652f\u63f4\u4f53\u5236\uff1a\u591a\u8077\u7a2e\u30c1\u30fc\u30e0\u306b\u3088\u308b\u30b5\u30dd\u30fc\u30c8<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u5931\u308f\u308c\u305f\u907a\u4f1d\u5b50\u3092\u5143\u306b\u623b\u3059\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u3001\u73fe\u6642\u70b9\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/strong>\u75c7\u72b6\u306b\u5408\u308f\u305b\u305f\u5bfe\u75c7\u7642\u6cd5\u3068\u7642\u80b2\u3067\u3001\u304a\u5b50\u69d8\u306e\u529b\u3092\u5f15\u304d\u51fa\u3057\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u3066\u3093\u304b\u3093\u6cbb\u7642<\/strong>\uff1a\u5c0f\u5150\u795e\u7d4c\u79d1\u533b\u306e\u3082\u3068\u3067\u3001\u767a\u4f5c\u306e\u30bf\u30a4\u30d7\u306b\u5408\u308f\u305b\u305f\u6297\u3066\u3093\u304b\u3093\u85ac\u3092\u9078\u3073\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6804\u990a\u7ba1\u7406<\/strong>\uff1a\u98f2\u307f\u8fbc\u307f\u304c\u96e3\u3057\u3044\u5834\u5408\u306f\u98df\u4e8b\u306e\u5f62\u614b\u3092\u5de5\u592b\u3057\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u6804\u990a\u5264\u3092\u4f7f\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7406\u5b66\u7642\u6cd5\u30fb\u4f5c\u696d\u7642\u6cd5\u30fb\u8a00\u8a9e\u8074\u899a\u7642\u6cd5<\/strong>\uff1a\u4f53\u5e79\u306e\u767a\u9054\u3001\u624b\u5148\u306e\u64cd\u4f5c\u3001\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u624b\u6bb5\u306e\u7372\u5f97\u3092\u652f\u3048\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u65e5\u672c\u306b\u306f\u3001\u3053\u3046\u3057\u305f\u304a\u5b50\u69d8\u3068\u3054\u5bb6\u65cf\u3092\u652f\u3048\u308b\u5236\u5ea6\u304c\u6574\u3063\u3066\u3044\u307e\u3059\u3002\u307e\u305a\u4f55\u304b\u3089\u624b\u3092\u3064\u3051\u308b\u304b\u8ff7\u3063\u305f\u3089\u3001\u4ee5\u4e0b\u306e\u9806\u306b\u78ba\u8a8d\u3057\u3066\u307f\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5c0f\u5150\u6162\u6027\u7279\u5b9a\u75be\u75c5\u306e\u533b\u7642\u8cbb\u52a9\u6210<\/strong>\uff1a<a href=\"https:\/\/www.shouman.jp\/\" target=\"_blank\" rel=\"noopener\">\u5c0f\u5150\u6162\u6027\u7279\u5b9a\u75be\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/a>\u3067\u5bfe\u8c61\u75be\u75c5\u304b\u78ba\u8a8d\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/li>\n\n\n\n<li>\u7642\u80b2\u624b\u5e33\uff1a\u65e9\u671f\u306b\u53d6\u5f97\u3059\u308b\u3053\u3068\u3067\u3001\u798f\u7949\u30b5\u30fc\u30d3\u30b9\u3084\u624b\u5f53\u306e\u53d7\u7d66\u306b\u3064\u306a\u304c\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u969c\u5bb3\u5150\u901a\u6240\u652f\u63f4\uff1a\u5150\u7ae5\u767a\u9054\u652f\u63f4\u4e8b\u696d\u6240\u3084\u653e\u8ab2\u5f8c\u7b49\u30c7\u30a4\u30b5\u30fc\u30d3\u30b9\u3092\u5229\u7528\u3067\u304d\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u5236\u5ea6\u306f\u81ea\u6cbb\u4f53\u7a93\u53e3\u3084\u533b\u7642\u30bd\u30fc\u30b7\u30e3\u30eb\u30ef\u30fc\u30ab\u30fc\u306b\u76f8\u8ac7\u3059\u308b\u3068\u3001\u6848\u5185\u3092\u3057\u3066\u304f\u308c\u307e\u3059\u3002\u4e00\u4eba\u3067\u62b1\u3048\u8fbc\u307e\u305a\u3001\u5c02\u9580\u8077\u306e\u529b\u3092\u501f\u308a\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"7_%E4%BA%88%E5%BE%8C%E3%81%A8%E8%A6%8B%E9%80%9A%E3%81%97\"><\/span><strong>7. \u4e88\u5f8c\u3068\u898b\u901a\u3057<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u767a\u9054\u306e\u901f\u5ea6\u306b\u306f\u500b\u4eba\u5dee\u304c\u5927\u304d\u304f\u3001\u6c7a\u307e\u3063\u305f\u7d4c\u904e\u306f\u5b58\u5728\u3057\u307e\u305b\u3093\u3002<\/strong>GeneReviews\u306b\u3088\u308c\u3070\u3001\u6587\u732e\u4e0a\u3053\u308c\u307e\u3067\u306b142\u4f8b\u4ee5\u4e0a\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u6b63\u78ba\u306a\u767a\u751f\u983b\u5ea6\u306f\u307e\u3060\u308f\u304b\u3063\u3066\u3044\u307e\u305b\u3093\u3002<a href=\"https:\/\/www.orpha.net\/consor\/cgi-bin\/OC_Exp.php?lng=EN&amp;Expert=228384\" target=\"_blank\" rel=\"noopener\">Orphanet<\/a>\u306b\u3082\u5e0c\u5c11\u75be\u60a3\u3068\u3057\u3066\u767b\u9332\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u6975\u3081\u3066\u75c7\u4f8b\u6570\u306e\u5c11\u306a\u3044\u75c5\u6c17\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u75c7\u4f8b\u6570\u305d\u306e\u3082\u306e\u304c\u5c11\u306a\u3044\u305f\u3081\u3001\u9577\u671f\u7684\u306a\u898b\u901a\u3057\u3092\u65ad\u5b9a\u3059\u308b\u3053\u3068\u306f\u56f0\u96e3\u3067\u3059\u3002\u5b9a\u671f\u7684\u306a\u767a\u9054\u8a55\u4fa1\u3068\u3066\u3093\u304b\u3093\u306e\u7ba1\u7406\u3092\u7a4d\u307f\u91cd\u306d\u308b\u3053\u3068\u304c\u3001\u751f\u6d3b\u306e\u8cea\u3092\u4fdd\u3064\u73fe\u5b9f\u7684\u306a\u9053\u7b4b\u3060\u3068\u611f\u3058\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6628\u65e5\u306f\u3067\u304d\u306a\u304b\u3063\u305f\u3053\u3068\u304c\u3001\u4eca\u65e5\u3067\u304d\u308b\u3088\u3046\u306b\u306a\u308b\u77ac\u9593\u304c\u3042\u308a\u307e\u3059\u3002\u5927\u5207\u306a\u306e\u306f\u3001\u3054\u5bb6\u65cf\u3068\u533b\u7642\u8005\u304c\u4e00\u7dd2\u306b\u898b\u5b88\u3063\u3066\u3044\u304f\u65e5\u3005\u306e\u7a4d\u307f\u91cd\u306d\u3002<\/p>\n\n\n\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\"><\/span><strong>8. \u3054\u5bb6\u65cf\u3078\u306e\u30e1\u30c3\u30bb\u30fc\u30b8<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u8a3a\u65ad\u540d\u306e\u91cd\u3055\u306b\u7acb\u3061\u6b62\u307e\u3063\u3066\u3044\u3066\u3082\u3001\u3042\u306a\u305f\u306f\u304a\u5b50\u69d8\u306b\u3068\u3063\u3066\u552f\u4e00\u306e\u7406\u89e3\u8005\u3067\u3059\u3002<\/strong>\u300c\u3069\u3046\u3057\u3066\u3053\u306e\u5b50\u304c\u300d\u3068\u3044\u3046\u554f\u3044\u306b\u3001\u660e\u78ba\u306a\u7b54\u3048\u3092\u6301\u3064\u4eba\u306f\u3044\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>5q14.3\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u304a\u5b50\u69d8\u306f\u3001\u652f\u63f4\u3092\u5fc5\u8981\u3068\u3059\u308b\u5834\u9762\u304c\u591a\u3044\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002\u305d\u308c\u3067\u3082\u3001\u8a00\u8449\u306e\u58c1\u3092\u8d85\u3048\u305f\u8868\u60c5\u3084\u3001\u97f3\u697d\u3078\u306e\u53cd\u5fdc\u3001\u5bb6\u65cf\u3078\u306e\u611b\u60c5\u3092\u78ba\u304b\u306b\u6301\u3063\u3066\u3044\u307e\u3059\u3002\u79c1\u81ea\u8eab\u3001\u8a3a\u5bdf\u5ba4\u3067\u305d\u3046\u3057\u305f\u77ac\u9593\u306b\u4f55\u5ea6\u3082\u51fa\u4f1a\u3063\u3066\u304d\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<p>\u7a00\u306a\u75be\u60a3\u3060\u304b\u3089\u3053\u305d\u3001\u540c\u3058\u5883\u9047\u306e\u5bb6\u65cf\u3068\u3064\u306a\u304c\u308b\u3053\u3068\u304c\u529b\u306b\u306a\u308a\u307e\u3059\u3002MEF2C\u95a2\u9023\u306e\u5bb6\u65cf\u4f1a\u3084SNS\u3001\u5e0c\u5c11\u75be\u60a3\u60a3\u8005\u4f1a\u3092\u901a\u3058\u3066\u3001\u60c5\u5831\u3092\u4ea4\u63db\u3057\u3066\u307f\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<p>\u30b7\u30e7\u30fc\u30c8\u30b9\u30c6\u30a4\u3084\u30d8\u30eb\u30d1\u30fc\u5229\u7528\u306f\u8d05\u6ca2\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u3054\u5bb6\u65cf\u304c\u7b11\u9854\u3067\u3044\u308b\u305f\u3081\u306e\u5fc5\u8981\u306a\u4e00\u6b69\u3067\u3059\u3002\u7121\u7406\u3092\u305b\u305a\u3001\u5468\u56f2\u306e\u624b\u3092\u501f\u308a\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<p>MEF2C\u907a\u4f1d\u5b50\u305d\u306e\u3082\u306e\u306e\u5909\u5316\u304c\u539f\u56e0\u3068\u306a\u308b\u30b1\u30fc\u30b9\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mef2c-related-disorder-guide\/\">MEF2C\u30cf\u30d7\u30ed\u4e0d\u5168\u75c7\u5019\u7fa4\u306b\u3064\u3044\u3066\u306e\u8a18\u4e8b<\/a>\u3082\u3042\u308f\u305b\u3066\u3054\u89a7\u304f\u3060\u3055\u3044\u3002\u767a\u9054\u306e\u7279\u6027\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-autism-developmental-disorders-detection\/\">NIPT\u3068\u767a\u9054\u969c\u5bb3\u30fb\u81ea\u9589\u75c7\u306b\u3064\u3044\u3066\u306e\u8a18\u4e8b<\/a>\u304c\u53c2\u8003\u306b\u306a\u308a\u307e\u3059\u3002\u77e5\u7684\u767a\u9054\u306e\u500b\u4eba\u5dee\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-intellectual-disability-traits-development\/\">NIPT\u3067\u5206\u304b\u308b\u77e5\u7684\u969c\u5bb3\u306e\u30ea\u30a2\u30eb\u306b\u3064\u3044\u3066\u306e\u8a18\u4e8b<\/a>\u3092\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<p>\u67d3\u8272\u4f53\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u5168\u822c\u304c\u5fc3\u914d\u306a\u65b9\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-microdeletion-risks\/\">\u67d3\u8272\u4f53\u306e\u5fae\u7d30\u306a\u7570\u5e38\u304c\u3082\u305f\u3089\u3059\u30ea\u30b9\u30af\u306b\u3064\u3044\u3066\u306e\u8a18\u4e8b<\/a>\u3082\u53c2\u8003\u306b\u306a\u308a\u307e\u3059\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<p>\u6b21\u306e\u304a\u5b50\u69d8\u306b\u5411\u3051\u3066NIPT\u3092\u691c\u8a0e\u3059\u308b\u5834\u5408\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u3092\u3069\u3053\u307e\u3067\u5bfe\u8c61\u306b\u542b\u3080\u304b\u3067\u30d7\u30e9\u30f3\u306e\u5185\u5bb9\u304c\u5909\u308f\u308a\u307e\u3059\u3002\u3054\u81ea\u8eab\u306b\u5408\u3046\u30d7\u30e9\u30f3\u304c\u5206\u304b\u3089\u306a\u3044\u5834\u5408\u306f\u3001<strong><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/plan-finder\/\">\u30d7\u30e9\u30f3\u8a3a\u65ad<\/a><\/strong>\u3092\u8a66\u3057\u3066\u307f\u3066\u304f\u3060\u3055\u3044\u3002\u304a\u96fb\u8a71\u3067\u306e\u3054\u76f8\u8ac7\u3082\u53d7\u3051\u4ed8\u3051\u3066\u3044\u307e\u3059\u3002<a href=\"tel:0120169629\">0120-169-629<\/a>\u307e\u3067\u304a\u6c17\u8efd\u306b\u304a\u554f\u3044\u5408\u308f\u305b\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:\/\/mypage-nipt-reservation.hiro-clinic.or.jp\/registration\" target=\"_blank\" rel=\"noopener\">NIPT\u306e\u4e88\u7d04\u306f\u3053\u3061\u3089<\/a><\/div>\n\n\n\n<div class=\"wp-block-button is-style-outline is-style-outline--1\"><a class=\"wp-block-button__link wp-element-button\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/plan-finder\/\" target=\"_blank\" rel=\"noopener\">\u30d7\u30e9\u30f3\u8a3a\u65ad\u3067\u81ea\u5206\u306b\u5408\u3046\u691c\u67fb\u3092\u63a2\u3059<\/a><\/div>\n<\/div>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%82%88%E3%81%8F%E3%81%82%E3%82%8B%E8%B3%AA%E5%95%8F\"><\/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=\"5q143%E6%AC%A0%E5%A4%B1%E7%97%87%E5%80%99%E7%BE%A4%E3%81%A8MEF2C%E3%83%8F%E3%83%97%E3%83%AD%E4%B8%8D%E5%85%A8%E7%97%87%E5%80%99%E7%BE%A4%E3%81%AF%E5%90%8C%E3%81%98%E7%97%85%E6%B0%97%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\"><\/span>5q14.3\u6b20\u5931\u75c7\u5019\u7fa4\u3068MEF2C\u30cf\u30d7\u30ed\u4e0d\u5168\u75c7\u5019\u7fa4\u306f\u540c\u3058\u75c5\u6c17\u3067\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u540c\u3058\u75c5\u6c17\u3092\u6307\u30592\u3064\u306e\u547c\u3073\u65b9\u3067\u3059\u3002\u539f\u56e0\u907a\u4f1d\u5b50\u306b\u6ce8\u76ee\u3057\u305f\u540d\u79f0\u304c\u300cMEF2C\u30cf\u30d7\u30ed\u4e0d\u5168\u75c7\u5019\u7fa4\u300d\u3067\u3059\u3002\u67d3\u8272\u4f53\u4e0a\u306e\u4f4d\u7f6e\u306b\u6ce8\u76ee\u3057\u305f\u540d\u79f0\u304c\u300c5q14.3\u6b20\u5931\u75c7\u5019\u7fa4\u300d\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%A9%E3%81%AE%E3%81%8F%E3%82%89%E3%81%84%E3%81%AE%E9%A0%BB%E5%BA%A6%E3%81%A7%E8%B5%B7%E3%81%93%E3%82%8B%E7%97%85%E6%B0%97%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u3069\u306e\u304f\u3089\u3044\u306e\u983b\u5ea6\u3067\u8d77\u3053\u308b\u75c5\u6c17\u3067\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>GeneReviews\u306b\u3088\u308c\u3070\u3001\u6587\u732e\u4e0a\u3053\u308c\u307e\u3067\u306b142\u4f8b\u4ee5\u4e0a\u306e\u5831\u544a\u304c\u3042\u308a\u307e\u3059\u3002\u5831\u544a\u4f8b\u305d\u306e\u3082\u306e\u304c\u5c11\u306a\u304f\u3001\u6b63\u78ba\u306a\u767a\u751f\u983b\u5ea6\u306f\u307e\u3060\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%93%E3%81%AE%E7%97%85%E6%B0%97%E3%81%AFNIPT%E3%81%A7%E5%88%86%E3%81%8B%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u3053\u306e\u75c5\u6c17\u306fNIPT\u3067\u5206\u304b\u308a\u307e\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u57fa\u672c\u7684\u306aNIPT\u306e\u5bfe\u8c61\u306b\u306f\u901a\u5e38\u542b\u307e\u308c\u307e\u305b\u3093\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u307e\u3067\u5bfe\u8c61\u3092\u5e83\u3052\u305f\u62e1\u5f35\u691c\u67fb\u3067\u5019\u88dc\u306b\u3042\u304c\u308b\u3053\u3068\u304c\u3042\u308b\u9818\u57df\u3067\u3059\u3002NIPT\u306f\u975e\u78ba\u5b9a\u7684\u306a\u691c\u67fb\u306e\u305f\u3081\u3001\u967d\u6027\u6240\u898b\u304c\u51fa\u305f\u5834\u5408\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u306a\u3069\u306e\u78ba\u5b9a\u691c\u67fb\u3067\u5224\u65ad\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%E6%80%A7%E3%81%AE%E7%97%85%E6%B0%97%E3%81%A7%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>\u907a\u4f1d\u6027\u306e\u75c5\u6c17\u3067\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>\u5831\u544a\u3055\u308c\u305f\u75c7\u4f8b\u306e\u591a\u304f\u306f\u5076\u767a\u7684\u306a\u7a81\u7136\u5909\u7570\uff08\u30c7\u30ce\u30dc\uff09\u306b\u3088\u308b\u3082\u306e\u3067\u3059\u3002\u6b21\u306e\u304a\u5b50\u69d8\u3078\u306e\u518d\u767a\u30ea\u30b9\u30af\u306f\u4e00\u822c\u7684\u306b\u4f4e\u3044\u3068\u3055\u308c\u307e\u3059\u3002\u3054\u4e21\u89aa\u306e\u3069\u3061\u3089\u304b\u304c\u540c\u3058\u5909\u5316\u3092\u304a\u6301\u3061\u306e\u5834\u5408\u306f\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u78ba\u8a8d\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E6%A4%9C%E6%9F%BB%E3%81%A7%E7%A2%BA%E5%AE%9A%E8%A8%BA%E6%96%AD%E3%81%95%E3%82%8C%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u3069\u306e\u3088\u3046\u306a\u691c\u67fb\u3067\u78ba\u5b9a\u8a3a\u65ad\u3055\u308c\u307e\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u67d3\u8272\u4f53<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u691c\u67fb\uff08CMA\uff09\u304c\u4e2d\u5fc3\u3067\u3059\u3002MEF2C\u907a\u4f1d\u5b50\u5185\u306e\u70b9\u5909\u7570\u304c\u7591\u308f\u308c\u308b\u5834\u5408\u306f\u3001\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\u306b\u3088\u308b\u907a\u4f1d\u5b50\u89e3\u6790\u3082\u3042\u308f\u305b\u3066\u884c\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%A6%E3%82%93%E3%81%8B%E3%82%93%E3%81%AF%E3%81%A9%E3%81%AE%E3%81%8F%E3%82%89%E3%81%84%E3%81%AE%E7%A2%BA%E7%8E%87%E3%81%A7%E8%B5%B7%E3%81%93%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u3066\u3093\u304b\u3093\u306f\u3069\u306e\u304f\u3089\u3044\u306e\u78ba\u7387\u3067\u8d77\u3053\u308a\u307e\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>GeneReviews\u3067\u306f\u3001MEF2C\u95a2\u9023\u75be\u60a3\u5168\u4f53\u306e86%\u306b\u767a\u4f5c\u304c\u307f\u3089\u308c\u305f\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u767a\u4f5c\u578b\u306f\u3055\u307e\u3056\u307e\u3067\u3001\u591a\u304f\u306f\u4e73\u5150\u671f\u304b\u3089\u59cb\u307e\u308b\u3068\u3055\u308c\u3066\u3044\u307e\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 Director\u3002\u6176\u61c9\u7fa9\u587e\u5927\u5b66\u533b\u5b66\u90e8\u5352\u696d\u3002\u65e5\u672c\u3068\u30a2\u30e1\u30ea\u30ab\u306e\u533b\u5e2b\u56fd\u5bb6\u8a66\u9a13\u306b\u5408\u683c\u3057\u3001\u533b\u5b66\u535a\u58eb\u3002\u56fd\u5185\u3067\u3082\u6570\u5c11\u306a\u3044\u30e9\u30dc\u30c7\u30a3\u30ec\u30af\u30bf\u30fc\u8cc7\u683c\u3092\u4fdd\u6709\u3057\u3066\u3044\u307e\u3059\u3002\u672c\u8a18\u4e8b\u306f\u533b\u7642\u5e83\u544a\u30ac\u30a4\u30c9\u30e9\u30a4\u30f3\u306b\u914d\u616e\u3057\u3001GeneReviews\u30fbOrphanet\u30fb\u65e5\u672c\u7523\u79d1\u5a66\u4eba\u79d1\u5b66\u4f1a\u30fb\u539a\u751f\u52b4\u50cd\u7701\u306a\u3069\u306e\u516c\u7684\u6a5f\u95a2\u30fb\u5b66\u4f1a\u60c5\u5831\u3092\u53c2\u7167\u3057\u3066\u4f5c\u6210\u3057\u3066\u3044\u307e\u3059\u3002\u75c7\u4f8b\u6570\u306e\u5c11\u306a\u3044\u5e0c\u5c11\u75be\u60a3\u306e\u305f\u3081\u3001\u8a18\u8f09\u306e\u983b\u5ea6\u30fb\u6570\u5024\u306f\u6587\u732e\u306b\u3088\u308a\u5e45\u304c\u3042\u308a\u307e\u3059\u3002\u8a3a\u65ad\u30fb\u6cbb\u7642\u306e\u6700\u7d42\u5224\u65ad\u306f\u62c5\u5f53\u533b\u306b\u3054\u76f8\u8ac7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n<script type=\"application\/ld+json\">\n{\n  \"@context\": \"https:\/\/schema.org\",\n  \"@type\": \"FAQPage\",\n  \"mainEntity\": [\n    {\n      \"@type\": \"Question\",\n      \"name\": \"5q14.3\u6b20\u5931\u75c7\u5019\u7fa4\u3068MEF2C\u30cf\u30d7\u30ed\u4e0d\u5168\u75c7\u5019\u7fa4\u306f\u540c\u3058\u75c5\u6c17\u3067\u3059\u304b\u3002\",\n      \"acceptedAnswer\": {\n        \"@type\": \"Answer\",\n        \"text\": \"\u540c\u3058\u75c5\u6c17\u3092\u6307\u30592\u3064\u306e\u547c\u3073\u65b9\u3067\u3059\u3002\u539f\u56e0\u907a\u4f1d\u5b50\u306b\u6ce8\u76ee\u3057\u305f\u540d\u79f0\u304c\u300cMEF2C\u30cf\u30d7\u30ed\u4e0d\u5168\u75c7\u5019\u7fa4\u300d\u3067\u3059\u3002\u67d3\u8272\u4f53\u4e0a\u306e\u4f4d\u7f6e\u306b\u6ce8\u76ee\u3057\u305f\u540d\u79f0\u304c\u300c5q14.3\u6b20\u5931\u75c7\u5019\u7fa4\u300d\u3067\u3059\u3002\"\n      }\n    },\n    {\n      \"@type\": \"Question\",\n      \"name\": \"\u3069\u306e\u304f\u3089\u3044\u306e\u983b\u5ea6\u3067\u8d77\u3053\u308b\u75c5\u6c17\u3067\u3059\u304b\u3002\",\n      \"acceptedAnswer\": {\n        \"@type\": \"Answer\",\n        \"text\": \"GeneReviews\u306b\u3088\u308c\u3070\u3001\u6587\u732e\u4e0a\u3053\u308c\u307e\u3067\u306b142\u4f8b\u4ee5\u4e0a\u306e\u5831\u544a\u304c\u3042\u308a\u307e\u3059\u3002\u5831\u544a\u4f8b\u305d\u306e\u3082\u306e\u304c\u5c11\u306a\u304f\u3001\u6b63\u78ba\u306a\u767a\u751f\u983b\u5ea6\u306f\u307e\u3060\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002\"\n      }\n    },\n    {\n      \"@type\": \"Question\",\n      \"name\": \"\u3053\u306e\u75c5\u6c17\u306fNIPT\u3067\u5206\u304b\u308a\u307e\u3059\u304b\u3002\",\n      \"acceptedAnswer\": {\n        \"@type\": \"Answer\",\n        \"text\": \"\u57fa\u672c\u7684\u306aNIPT\u306e\u5bfe\u8c61\u306b\u306f\u901a\u5e38\u542b\u307e\u308c\u307e\u305b\u3093\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u307e\u3067\u5bfe\u8c61\u3092\u5e83\u3052\u305f\u62e1\u5f35\u691c\u67fb\u3067\u5019\u88dc\u306b\u3042\u304c\u308b\u3053\u3068\u304c\u3042\u308b\u9818\u57df\u3067\u3059\u3002NIPT\u306f\u975e\u78ba\u5b9a\u7684\u306a\u691c\u67fb\u306e\u305f\u3081\u3001\u967d\u6027\u6240\u898b\u304c\u51fa\u305f\u5834\u5408\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u306a\u3069\u306e\u78ba\u5b9a\u691c\u67fb\u3067\u5224\u65ad\u3057\u307e\u3059\u3002\"\n      }\n    },\n    {\n      \"@type\": \"Question\",\n      \"name\": \"\u907a\u4f1d\u6027\u306e\u75c5\u6c17\u3067\u3059\u304b\u3002\u6b21\u306e\u5b50\u306b\u3082\u5f71\u97ff\u3057\u307e\u3059\u304b\u3002\",\n      \"acceptedAnswer\": {\n        \"@type\": \"Answer\",\n        \"text\": \"\u5831\u544a\u3055\u308c\u305f\u75c7\u4f8b\u306e\u591a\u304f\u306f\u5076\u767a\u7684\u306a\u7a81\u7136\u5909\u7570\uff08\u30c7\u30ce\u30dc\uff09\u306b\u3088\u308b\u3082\u306e\u3067\u3059\u3002\u6b21\u306e\u304a\u5b50\u69d8\u3078\u306e\u518d\u767a\u30ea\u30b9\u30af\u306f\u4e00\u822c\u7684\u306b\u4f4e\u3044\u3068\u3055\u308c\u307e\u3059\u3002\u3054\u4e21\u89aa\u306e\u3069\u3061\u3089\u304b\u304c\u540c\u3058\u5909\u5316\u3092\u304a\u6301\u3061\u306e\u5834\u5408\u306f\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u78ba\u8a8d\u3057\u3066\u304f\u3060\u3055\u3044\u3002\"\n      }\n    },\n    {\n      \"@type\": \"Question\",\n      \"name\": \"\u3069\u306e\u3088\u3046\u306a\u691c\u67fb\u3067\u78ba\u5b9a\u8a3a\u65ad\u3055\u308c\u307e\u3059\u304b\u3002\",\n      \"acceptedAnswer\": {\n        \"@type\": \"Answer\",\n        \"text\": \"\u67d3\u8272\u4f53<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u691c\u67fb\uff08CMA\uff09\u304c\u4e2d\u5fc3\u3067\u3059\u3002MEF2C\u907a\u4f1d\u5b50\u5185\u306e\u70b9\u5909\u7570\u304c\u7591\u308f\u308c\u308b\u5834\u5408\u306f\u3001\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\u306b\u3088\u308b\u907a\u4f1d\u5b50\u89e3\u6790\u3082\u3042\u308f\u305b\u3066\u884c\u308f\u308c\u307e\u3059\u3002\"\n      }\n    },\n    {\n      \"@type\": \"Question\",\n      \"name\": \"\u3066\u3093\u304b\u3093\u306f\u3069\u306e\u304f\u3089\u3044\u306e\u78ba\u7387\u3067\u8d77\u3053\u308a\u307e\u3059\u304b\u3002\",\n      \"acceptedAnswer\": {\n        \"@type\": \"Answer\",\n        \"text\": \"GeneReviews\u3067\u306f\u3001MEF2C\u95a2\u9023\u75be\u60a3\u5168\u4f53\u306e86%\u306b\u767a\u4f5c\u304c\u307f\u3089\u308c\u305f\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u767a\u4f5c\u578b\u306f\u3055\u307e\u3056\u307e\u3067\u3001\u591a\u304f\u306f\u4e73\u5150\u671f\u304b\u3089\u59cb\u307e\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\"\n      }\n    }\n  ]\n}\n<\/script>\n","protected":false},"excerpt":{"rendered":"\u304a\u5b50\u69d8\u304c\u300c5q14.3\u6b20\u5931\u75c7\u5019\u7fa4\u300d\u3068\u8a3a\u65ad&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/5q14-3-deletion-syndrome\/\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":122,"featured_media":116722,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[1392],"tags":[],"class_list":["post-121604","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\/121604","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=121604"}],"version-history":[{"count":2,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/121604\/revisions"}],"predecessor-version":[{"id":133783,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/121604\/revisions\/133783"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/116722"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=121604"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=121604"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=121604"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}