{"id":121714,"date":"2026-01-07T16:17:57","date_gmt":"2026-01-07T07:17:57","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=121714"},"modified":"2026-07-24T05:20:06","modified_gmt":"2026-07-23T20:20:06","slug":"chromosome-8p23-1-duplication-syndrome","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-8p23-1-duplication-syndrome\/","title":{"rendered":"8p23.1\u91cd\u8907\u75c7\u5019\u7fa4"},"content":{"rendered":"\n<div style=\"border:solid #ffe6e6 0.8rem;background-color: #fff9f9;padding:3% 5%;margin:1rem 0 3rem;\">\n<h2 style=\"margin-top:1rem;\">\u3053\u306e\u8a18\u4e8b\u306e\u307e\u3068\u3081<\/h2>\n<p><strong>8p23.1\u91cd\u8907\u75c7\u5019\u7fa4\u3068\u306f\u30018\u756a\u67d3\u8272\u4f53\u77ed\u8155\u306e\u300c8p23.1\u300d\u3068\u3044\u3046\u9818\u57df\u304c\u901a\u5e38\u3088\u308a\u591a\u304f\u5b58\u5728\u3059\u308b\u3001\u3054\u304f\u7a00\u306a\u67d3\u8272\u4f53\u75be\u60a3\u3067\u3059\u3002<\/strong>\u95a2\u308f\u308b\u907a\u4f1d\u5b50\u306fGATA4\u30fbTNKS\u30fbSOX7\u30fbXKR6\u306e4\u3064\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u767a\u9054\u306e\u9045\u308c\u306f9\u5272\u4ee5\u4e0a\u306e\u65b9\u306b\u307f\u3089\u308c\u308b\u4e00\u65b9\u3001\u5fc3\u81d3\u306e\u75c5\u6c17\u306f\u7d044\u4eba\u306b1\u4eba\u306b\u3068\u3069\u307e\u308a\u3001\u4ee5\u524d\u8003\u3048\u3089\u308c\u3066\u3044\u305f\u3088\u308a\u3082\u9ad8\u983b\u5ea6\u3067\u306f\u306a\u3044\u3053\u3068\u304c\u8fd1\u5e74\u306e\u7814\u7a76\u3067\u308f\u304b\u3063\u3066\u304d\u307e\u3057\u305f\u3002\u672c\u8a18\u4e8b\u3067\u306f\u3001\u75c7\u72b6\u30fb\u539f\u56e0\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>(\u65b0\u578b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>)\u3068\u306e\u95a2\u4fc2\u30fb\u8a3a\u65ad\u5f8c\u306e\u652f\u63f4\u306b\u3064\u3044\u3066\u3001\u5b66\u8853\u8ad6\u6587\u3068\u516c\u7684\u60c5\u5831\u306b\u3082\u3068\u3065\u3044\u3066\u89e3\u8aac\u3057\u307e\u3059\u3002<\/p>\n<\/div>\n\n\n\n<div style=\"border:solid #e6f0ff 0.6rem;background-color:#f7fbff;padding:3% 5%;margin:1rem 0 3rem;\">\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\" 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class=\"ez-toc-link ez-toc-heading-1\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-8p23-1-duplication-syndrome\/#%E3%81%93%E3%81%AE%E8%A8%98%E4%BA%8B%E3%81%A7%E3%82%8F%E3%81%8B%E3%82%8B%E3%81%93%E3%81%A8\" >\u3053\u306e\u8a18\u4e8b\u3067\u308f\u304b\u308b\u3053\u3068<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-8p23-1-duplication-syndrome\/#1_%E6%A6%82%E8%A6%81%EF%BC%9A%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E7%97%85%E6%B0%97%E3%81%8B\" >1. \u6982\u8981\uff1a\u3069\u306e\u3088\u3046\u306a\u75c5\u6c17\u304b<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-8p23-1-duplication-syndrome\/#%E6%9F%93%E8%89%B2%E4%BD%93%E3%81%A8%E3%80%8C%E9%87%8D%E8%A4%87%E3%80%8D%E3%81%AE%E4%BB%95%E7%B5%84%E3%81%BF\" >\u67d3\u8272\u4f53\u3068\u300c\u91cd\u8907\u300d\u306e\u4ed5\u7d44\u307f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-8p23-1-duplication-syndrome\/#%E9%96%A2%E3%82%8F%E3%82%8B4%E3%81%A4%E3%81%AE%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%A8%E3%81%9D%E3%81%AE%E5%BD%B9%E5%89%B2\" >\u95a2\u308f\u308b4\u3064\u306e\u907a\u4f1d\u5b50\u3068\u305d\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-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-8p23-1-duplication-syndrome\/#2_%E4%B8%BB%E3%81%AA%E7%97%87%E7%8A%B6%EF%BC%9A%E5%BF%83%E8%87%93%E3%81%AE%E7%97%85%E6%B0%97%E3%81%AF%E6%9C%AC%E5%BD%93%E3%81%AB%E5%A4%9A%E3%81%84%E3%81%AE%E3%81%8B\" >2. \u4e3b\u306a\u75c7\u72b6\uff1a\u5fc3\u81d3\u306e\u75c5\u6c17\u306f\u672c\u5f53\u306b\u591a\u3044\u306e\u304b<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-8p23-1-duplication-syndrome\/#%E7%99%BA%E9%81%94%E3%81%A8%E7%9F%A5%E8%83%BD%E3%81%AE%E7%89%B9%E6%80%A7\" >\u767a\u9054\u3068\u77e5\u80fd\u306e\u7279\u6027<\/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\/chromosome-8p23-1-duplication-syndrome\/#%E5%BF%83%E8%87%93%E3%81%AE%E5%90%88%E4%BD%B5%E7%97%87%E3%81%AF%E7%B4%844%E4%BA%BA%E3%81%AB1%E4%BA%BA\" >\u5fc3\u81d3\u306e\u5408\u4f75\u75c7\u306f\u7d044\u4eba\u306b1\u4eba<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-8p23-1-duplication-syndrome\/#%E8%BA%AB%E4%BD%93%E7%9A%84%E3%83%BB%E5%A4%96%E8%A6%8B%E7%9A%84%E7%89%B9%E5%BE%B4\" >\u8eab\u4f53\u7684\u30fb\u5916\u898b\u7684\u7279\u5fb4<\/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\/chromosome-8p23-1-duplication-syndrome\/#%E8%A1%8C%E5%8B%95%E3%81%A8%E3%82%B3%E3%83%9F%E3%83%A5%E3%83%8B%E3%82%B1%E3%83%BC%E3%82%B7%E3%83%A7%E3%83%B3%E3%81%AE%E7%89%B9%E5%BE%B4\" >\u884c\u52d5\u3068\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u306e\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-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-8p23-1-duplication-syndrome\/#3_%E5%8E%9F%E5%9B%A0%EF%BC%9A%E3%81%AA%E3%81%9C8p231%E3%81%AE%E9%87%8D%E8%A4%87%E3%81%8C%E8%B5%B7%E3%81%8D%E3%82%8B%E3%81%AE%E3%81%8B\" >3. \u539f\u56e0\uff1a\u306a\u305c8p23.1\u306e\u91cd\u8907\u304c\u8d77\u304d\u308b\u306e\u304b<\/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\/chromosome-8p23-1-duplication-syndrome\/#%E3%81%BB%E3%81%A8%E3%82%93%E3%81%A9%E3%81%8C%E3%80%8C%E7%AA%81%E7%84%B6%E5%A4%89%E7%95%B0de_novo%E3%80%8D\" >\u307b\u3068\u3093\u3069\u304c\u300c\u7a81\u7136\u5909\u7570(de novo)\u300d<\/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\/chromosome-8p23-1-duplication-syndrome\/#8p231%E9%A0%98%E5%9F%9F%E3%81%8C%E9%87%8D%E8%A4%87%E3%81%97%E3%82%84%E3%81%99%E3%81%84%E7%90%86%E7%94%B1\" >8p23.1\u9818\u57df\u304c\u91cd\u8907\u3057\u3084\u3059\u3044\u7406\u7531<\/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\/chromosome-8p23-1-duplication-syndrome\/#%E9%81%BA%E4%BC%9D%E3%81%AB%E3%82%88%E3%82%8B%E3%82%B1%E3%83%BC%E3%82%B9%E5%9D%87%E8%A1%A1%E5%9E%8B%E8%BB%A2%E5%BA%A7\" >\u907a\u4f1d\u306b\u3088\u308b\u30b1\u30fc\u30b9(\u5747\u8861\u578b\u8ee2\u5ea7)<\/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\/chromosome-8p23-1-duplication-syndrome\/#4_NIPT%E6%96%B0%E5%9E%8B%E5%87%BA%E7%94%9F%E5%89%8D%E8%A8%BA%E6%96%AD%E3%81%A7%E3%81%93%E3%81%AE%E7%96%BE%E6%82%A3%E3%81%AF%E3%82%8F%E3%81%8B%E3%82%8B%E3%81%AE%E3%81%8B\" >4. NIPT(\u65b0\u578b\u51fa\u751f\u524d\u8a3a\u65ad)\u3067\u3053\u306e\u75be\u60a3\u306f\u308f\u304b\u308b\u306e\u304b<\/a><\/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\/chromosome-8p23-1-duplication-syndrome\/#5_%E8%A8%BA%E6%96%AD%E3%81%A8%E6%A4%9C%E6%9F%BB\" >5. \u8a3a\u65ad\u3068\u691c\u67fb<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-8p23-1-duplication-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%BBCMA\" >\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u691c\u67fb(CMA)<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-8p23-1-duplication-syndrome\/#%E3%81%9D%E3%81%AE%E4%BB%96%E3%81%AE%E9%81%BA%E4%BC%9D%E5%AD%90%E6%A4%9C%E6%9F%BB\" >\u305d\u306e\u4ed6\u306e\u907a\u4f1d\u5b50\u691c\u67fb<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-18\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-8p23-1-duplication-syndrome\/#%E8%A8%BA%E6%96%AD%E5%BE%8C%E3%81%AE%E9%9A%8F%E4%BC%B4%E7%97%87%E7%8A%B6%E3%83%81%E3%82%A7%E3%83%83%E3%82%AF\" >\u8a3a\u65ad\u5f8c\u306e\u968f\u4f34\u75c7\u72b6\u30c1\u30a7\u30c3\u30af<\/a><\/li><\/ul><\/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\/chromosome-8p23-1-duplication-syndrome\/#6_%E6%B2%BB%E7%99%82%E3%81%A8%E7%99%82%E8%82%B2%E3%83%BB%E6%94%AF%E6%8F%B4\" >6. \u6cbb\u7642\u3068\u7642\u80b2\u30fb\u652f\u63f4<\/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\/chromosome-8p23-1-duplication-syndrome\/#%E5%8C%BB%E7%99%82%E7%9A%84%E3%82%B1%E3%82%A2\" >\u533b\u7642\u7684\u30b1\u30a2<\/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\/chromosome-8p23-1-duplication-syndrome\/#%E7%99%BA%E9%81%94%E6%94%AF%E6%8F%B4%E7%99%82%E8%82%B2\" >\u767a\u9054\u652f\u63f4(\u7642\u80b2)<\/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\/chromosome-8p23-1-duplication-syndrome\/#%E6%95%99%E8%82%B2%E7%9A%84%E9%85%8D%E6%85%AE\" >\u6559\u80b2\u7684\u914d\u616e<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-23\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-8p23-1-duplication-syndrome\/#7_%E3%81%BE%E3%81%A8%E3%82%81\" >7. \u307e\u3068\u3081<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-24\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-8p23-1-duplication-syndrome\/#8_%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. \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-25\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-8p23-1-duplication-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-26\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-8p23-1-duplication-syndrome\/#8p231%E9%87%8D%E8%A4%87%E7%97%87%E5%80%99%E7%BE%A4%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\" >8p23.1\u91cd\u8907\u75c7\u5019\u7fa4\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-27\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-8p23-1-duplication-syndrome\/#%E5%BF%83%E8%87%93%E3%81%AE%E7%97%85%E6%B0%97%E3%81%AF%E5%BF%85%E3%81%9A%E8%B5%B7%E3%81%93%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >\u5fc3\u81d3\u306e\u75c5\u6c17\u306f\u5fc5\u305a\u8d77\u3053\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-28\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-8p23-1-duplication-syndrome\/#%E8%A6%AA%E3%81%AE%E8%82%B2%E3%81%A6%E6%96%B9%E3%82%84%E5%A6%8A%E5%A8%A0%E4%B8%AD%E3%81%AE%E7%94%9F%E6%B4%BB%E3%81%8C%E5%8E%9F%E5%9B%A0%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\" >\u89aa\u306e\u80b2\u3066\u65b9\u3084\u598a\u5a20\u4e2d\u306e\u751f\u6d3b\u304c\u539f\u56e0\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-29\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-8p23-1-duplication-syndrome\/#%E5%A6%8A%E5%A8%A0%E4%B8%AD%E3%81%AENIPT%E3%81%A7%E3%81%93%E3%81%AE%E7%97%85%E6%B0%97%E3%81%AF%E3%82%8F%E3%81%8B%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >\u598a\u5a20\u4e2d\u306eNIPT\u3067\u3053\u306e\u75c5\u6c17\u306f\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-30\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-8p23-1-duplication-syndrome\/#%E5%85%84%E5%BC%9F%E5%A7%89%E5%A6%B9%E3%81%AB%E3%82%82%E5%90%8C%E3%81%98%E3%81%93%E3%81%A8%E3%81%8C%E8%B5%B7%E3%81%93%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >\u5144\u5f1f\u59c9\u59b9\u306b\u3082\u540c\u3058\u3053\u3068\u304c\u8d77\u3053\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-31\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-8p23-1-duplication-syndrome\/#%E8%A8%BA%E6%96%AD%E5%BE%8C%E3%81%AB%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E6%94%AF%E6%8F%B4%E3%81%8C%E5%8F%97%E3%81%91%E3%82%89%E3%82%8C%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >\u8a3a\u65ad\u5f8c\u306b\u3069\u306e\u3088\u3046\u306a\u652f\u63f4\u304c\u53d7\u3051\u3089\u308c\u307e\u3059\u304b\u3002<\/a><\/li><\/ul><\/li><\/ul><\/nav><\/div>\n<h2 style=\"margin-top:1rem;\"><span class=\"ez-toc-section\" id=\"%E3%81%93%E3%81%AE%E8%A8%98%E4%BA%8B%E3%81%A7%E3%82%8F%E3%81%8B%E3%82%8B%E3%81%93%E3%81%A8\"><\/span>\u3053\u306e\u8a18\u4e8b\u3067\u308f\u304b\u308b\u3053\u3068<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<ul>\n<li>8p23.1\u91cd\u8907\u75c7\u5019\u7fa4\u304c\u3069\u306e\u3088\u3046\u306a\u67d3\u8272\u4f53\u75be\u60a3\u304b\u3001\u95a2\u308f\u308b4\u3064\u306e\u907a\u4f1d\u5b50\u306e\u5f79\u5272<\/li>\n<li>\u5fc3\u81d3\u306e\u75c5\u6c17\u306f\u672c\u5f53\u306b\u9ad8\u983b\u5ea6\u306a\u306e\u304b\u3001\u6700\u65b0\u306e\u7814\u7a76\u30c7\u30fc\u30bf\u3067\u898b\u308b\u5b9f\u969b\u306e\u5272\u5408<\/li>\n<li><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>(\u65b0\u578b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>)\u3067\u3053\u306e\u75be\u60a3\u304c\u308f\u304b\u308b\u304b\u3069\u3046\u304b\u3001\u78ba\u5b9a\u8a3a\u65ad\u3068\u306e\u95a2\u4fc2<\/li>\n<li>\u8a3a\u65ad\u5f8c\u306b\u53d7\u3051\u3089\u308c\u308b\u691c\u67fb\u30fb\u6cbb\u7642\u30fb\u7642\u80b2\u652f\u63f4<\/li>\n<\/ul>\n<\/div>\n\n\n\n<p>\u304a\u5b50\u69d8\u3084\u3054\u5bb6\u65cf\u304c\u300c8p23.1\u91cd\u8907\u75c7\u5019\u7fa4\u300d\u3068\u3044\u3046\u8a3a\u65ad\u3092\u53d7\u3051\u305f\u3068\u304d\u3001\u591a\u304f\u306e\u65b9\u306f\u521d\u3081\u3066\u805e\u304f\u305d\u306e\u540d\u524d\u306b\u9a5a\u304d\u3001\u6238\u60d1\u308f\u308c\u308b\u3053\u3068\u3067\u3057\u3087\u3046\u3002\u30a4\u30f3\u30bf\u30fc\u30cd\u30c3\u30c8\u3067\u691c\u7d22\u3057\u3066\u3082\u5c02\u9580\u7684\u3059\u304e\u308b\u8ad6\u6587\u3057\u304b\u898b\u3064\u304b\u3089\u305a\u3001\u304b\u3048\u3063\u3066\u4e0d\u5b89\u304c\u52df\u308b\u3053\u3068\u3082\u3042\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u67d3\u8272\u4f53\u75be\u60a3\u306e\u7406\u89e3\u3067\u307e\u305a\u5927\u5207\u306a\u306e\u306f\u3001\u6b63\u3057\u3044\u77e5\u8b58\u3092\u6301\u3064\u3053\u3068\u3067\u3059\u3002\u305d\u306e\u3046\u3048\u3067\u3001\u304a\u5b50\u69d8\u4e00\u4eba\u3072\u3068\u308a\u306e\u500b\u6027\u3092\u5c0a\u91cd\u3059\u308b\u8996\u70b9\u3082\u6b20\u304b\u305b\u307e\u305b\u3093\u3002\u3053\u306e\u8a18\u4e8b\u3067\u306f\u3001\u75be\u60a3\u306e\u30e1\u30ab\u30cb\u30ba\u30e0\u3068\u7279\u5fb4\u3001\u5fc5\u8981\u306a\u30b5\u30dd\u30fc\u30c8\u3092\u8a73\u3057\u304f\u89e3\u8aac\u3057\u307e\u3059\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E6%A6%82%E8%A6%81%EF%BC%9A%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E7%97%85%E6%B0%97%E3%81%8B\"><\/span><strong>1. \u6982\u8981\uff1a\u3069\u306e\u3088\u3046\u306a\u75c5\u6c17\u304b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>8p23.1\u91cd\u8907\u75c7\u5019\u7fa4\u306f\u30018\u756a\u67d3\u8272\u4f53\u77ed\u8155\u306e\u91cd\u8907\u306b\u3088\u3063\u3066\u907a\u4f1d\u5b50\u306e\u91cf\u30d0\u30e9\u30f3\u30b9\u304c\u5d29\u308c\u3001\u767a\u9054\u3084\u5fc3\u81d3\u306e\u5f62\u6210\u306b\u5f71\u97ff\u304c\u751f\u3058\u308b\u75be\u60a3\u3067\u3059\u3002<\/strong>\u307e\u305a\u306f\u67d3\u8272\u4f53\u3068\u300c\u91cd\u8907\u300d\u306e\u4ed5\u7d44\u307f\u304b\u3089\u898b\u3066\u3044\u304d\u307e\u3057\u3087\u3046\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%A8%E3%80%8C%E9%87%8D%E8%A4%87%E3%80%8D%E3%81%AE%E4%BB%95%E7%B5%84%E3%81%BF\"><\/span><strong>\u67d3\u8272\u4f53\u3068\u300c\u91cd\u8907\u300d\u306e\u4ed5\u7d44\u307f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u79c1\u305f\u3061\u306e\u4f53\u306f\u6570\u5146\u500b\u306e\u7d30\u80de\u3067\u3067\u304d\u3066\u3044\u307e\u3059\u3002\u305d\u306e\u4e00\u3064\u3072\u3068\u3064\u306b\u3001\u4f53\u306e\u8a2d\u8a08\u56f3\u3067\u3042\u308b\u907a\u4f1d\u5b50\u3092\u53ce\u3081\u305f\u67d3\u8272\u4f53\u304c\u3042\u308a\u307e\u3059\u3002\u4eba\u9593\u306f23\u5bfe\u3001\u8a0846\u672c\u306e\u67d3\u8272\u4f53\u3092\u6301\u3061\u30011\u756a\u304b\u308922\u756a\u307e\u3067\u306e\u5e38\u67d3\u8272\u4f53\u3068\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/testing\/#anchor_sex\">\u6027\u5225<\/a>\u3092\u6c7a\u3081\u308b\u6027\u67d3\u8272\u4f53(X\u3068Y)\u3067\u69cb\u6210\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u67d3\u8272\u4f53\u306f\u4e2d\u5fc3\u306e\u300c\u4e2d\u5fc3\u7bc0(\u30bb\u30f3\u30c8\u30ed\u30e1\u30a2)\u300d\u3092\u5883\u306b\u3001\u77ed\u3044\u65b9\u306e\u8155\u3092\u300cp(\u77ed\u8155)\u300d\u3001\u9577\u3044\u65b9\u306e\u8155\u3092\u300cq(\u9577\u8155)\u300d\u3068\u547c\u3073\u307e\u3059\u30028p23.1\u91cd\u8907\u75c7\u5019\u7fa4\u306f\u30018\u756a\u67d3\u8272\u4f53\u77ed\u8155\u306e\u300c23.1\u300d\u3068\u3044\u3046\u7279\u5b9a\u306e\u9818\u57df\u304c\u901a\u5e38\u3088\u308a\u3082\u591a\u304f\u5b58\u5728\u3059\u308b\u72b6\u614b\u3092\u6307\u3057\u307e\u3059\u3002\u8a2d\u8a08\u56f3\u306e\u7279\u5b9a\u306e\u30da\u30fc\u30b8\u304c2\u56de\u5206\u7db4\u3058\u3089\u308c\u3066\u3044\u308b\u30a4\u30e1\u30fc\u30b8\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u9818\u57df\u306b\u306f\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u304c\u8907\u6570\u542b\u307e\u308c\u3066\u3044\u307e\u3059\u3002\u305d\u308c\u3089\u304c\u300c\u591a\u3059\u304e\u308b\u300d\u3053\u3068\u3067\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u7523\u751f\u30d0\u30e9\u30f3\u30b9\u304c\u5d29\u308c\u3001\u6210\u9577\u3084\u767a\u9054\u306b\u5f71\u97ff\u304c\u751f\u3058\u308b\u306e\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%96%A2%E3%82%8F%E3%82%8B4%E3%81%A4%E3%81%AE%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%A8%E3%81%9D%E3%81%AE%E5%BD%B9%E5%89%B2\"><\/span><strong>\u95a2\u308f\u308b4\u3064\u306e\u907a\u4f1d\u5b50\u3068\u305d\u306e\u5f79\u5272<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>2014\u5e74\u306bWeber\u3089\u304c\u767a\u8868\u3057\u305f\u7814\u7a76\u3067\u306f\u30018p23.1\u91cd\u8907\u75c7\u5019\u7fa4\u306e\u4e2d\u5fc3\u9818\u57df\u306b\u542b\u307e\u308c\u308b4\u3064\u306e\u907a\u4f1d\u5b50\u3068\u3001\u305d\u308c\u305e\u308c\u304c\u95a2\u308f\u308b\u75c7\u72b6\u306e\u5bfe\u5fdc\u95a2\u4fc2\u304c\u6574\u7406\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<figure class=\"wp-table-block\"><table><thead><tr><th>\u907a\u4f1d\u5b50\u540d<\/th><th>\u4e3b\u306b\u95a2\u308f\u308b\u3068\u3055\u308c\u308b\u75c7\u72b6<\/th><\/tr><\/thead><tbody><tr><td>GATA4<\/td><td>\u5fc3\u81d3\u306e\u5f62\u6210\u3002SOX7\u3068\u5354\u8abf\u3057\u3066\u5148\u5929\u6027\u5fc3\u75be\u60a3\u306b\u95a2\u4e0e\u3059\u308b\u53ef\u80fd\u6027<\/td><\/tr><tr><td>SOX7<\/td><td>\u767a\u9054\u306e\u9045\u308c<\/td><\/tr><tr><td>TNKS(TNKS1)<\/td><td>\u884c\u52d5\u9762\u306e\u7279\u5fb4(\u591a\u52d5\u30fb\u3053\u3060\u308f\u308a\u7b49)<\/td><\/tr><tr><td>XKR6<\/td><td>\u672c\u75c7\u5019\u7fa4\u306b\u304a\u3051\u308b\u5f79\u5272\u306f\u73fe\u6642\u70b9\u3067\u308f\u304b\u3063\u3066\u3044\u306a\u3044<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<p>\u3053\u306e\u9818\u57df\u306e\u91cd\u8907\u306b\u306f\u3001\u5927\u304d\u304f\u5206\u3051\u30662\u3064\u306e\u30bf\u30a4\u30d7\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li>\u5fae\u7d30\u91cd\u8907(Microduplication): 8p23.1\u9818\u57df\u306e\u307f\u304c\u5c40\u6240\u7684\u306b\u91cd\u8907\u3057\u3066\u3044\u308b\u3082\u306e\u3002<\/li>\n\n\n\n<li>\u3088\u308a\u5e83\u7bc4\u56f2\u306e\u91cd\u8907: 8p23.1\u3092\u542b\u3080\u3001\u3088\u308a\u5927\u304d\u306a\u9818\u57df\u304c\u91cd\u8907\u3057\u3066\u3044\u308b\u3082\u306e(8p\u91cd\u8907\u75c7\u5019\u7fa4\u3068\u3057\u3066\u3001\u3088\u308a\u5e83\u7bc4\u306a\u75c7\u72b6\u3092\u793a\u3059\u3053\u3068\u304c\u3042\u308a\u307e\u3059)\u3002<\/li>\n<\/ol>\n\n\n\n<p>\u3053\u306e\u8a18\u4e8b\u3067\u306f\u3001\u7279\u306b\u300c8p23.1\u300d\u3068\u3044\u3046\u7279\u5b9a\u306e\u30b9\u30dd\u30c3\u30c8\u306b\u7126\u70b9\u3092\u5f53\u3066\u3066\u89e3\u8aac\u3057\u307e\u3059\u30028p23.1\u9818\u57df\u306b\u306f\u5358\u4e00\u907a\u4f1d\u5b50\u304c\u539f\u56e0\u306e\u75be\u60a3\u3082\u8907\u6570\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/8p23-1-deletion-syndrome\/\">\u540c\u30588p23.1\u9818\u57df\u306b\u95a2\u308f\u308b\u907a\u4f1d\u6027\u75be\u60a3(MODY11\u30fb\u5148\u5929\u6027\u6a2a\u9694\u819c\u30d8\u30eb\u30cb\u30a2\u30fb\u30b9\u30af\u30a2\u30ec\u30f3\u5408\u6210\u9175\u7d20\u6b20\u640d\u75c7)\u306e\u89e3\u8aac\u8a18\u4e8b<\/a>\u3082\u3042\u308f\u305b\u3066\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/8p23-1-deletion-syndrome\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">8p23.1\u6b20\u5931\u75c7\u5019\u7fa4 <\/div>\n          <div class=\"blog-card-excerpt\">8p23.1\u9818\u57df\u306b\u4f4d\u7f6e\u3059\u308bBLK\u3001GATA4\u3001FDFT1\u907a\u4f1d\u5b50\u304c\u5f15\u304d\u8d77\u3053\u3059\u7a00\u5c11\u75be\u60a3\u3067\u3042\u308bMODY\uff08\u5bb6\u65cf\u6027\u82e5\u5e74\u7cd6\u5c3f\u75c5\uff09\u3001CDH\uff08\u5148\u5929\u6027\u6a2a\u9694\u819c\u30d8...<\/div>\n      <\/div>\n    <\/a>\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%E5%BF%83%E8%87%93%E3%81%AE%E7%97%85%E6%B0%97%E3%81%AF%E6%9C%AC%E5%BD%93%E3%81%AB%E5%A4%9A%E3%81%84%E3%81%AE%E3%81%8B\"><\/span><strong>2. \u4e3b\u306a\u75c7\u72b6\uff1a\u5fc3\u81d3\u306e\u75c5\u6c17\u306f\u672c\u5f53\u306b\u591a\u3044\u306e\u304b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u75c7\u72b6\u306e\u51fa\u65b9\u306f\u500b\u4eba\u5dee\u304c\u975e\u5e38\u306b\u5927\u304d\u304f\u3001\u3059\u3079\u3066\u306e\u75c7\u72b6\u304c\u305d\u308d\u3046\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/strong>\u8efd\u5fae\u306a\u75c7\u72b6\u3060\u3051\u3067\u8a3a\u65ad\u306b\u81f3\u3089\u306a\u3044\u30b1\u30fc\u30b9\u3082\u3042\u308c\u3070\u3001\u8907\u6570\u306e\u533b\u5b66\u7684\u30b1\u30a2\u3092\u5fc5\u8981\u3068\u3059\u308b\u30b1\u30fc\u30b9\u3082\u3042\u308a\u307e\u3059\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%A8%E7%9F%A5%E8%83%BD%E3%81%AE%E7%89%B9%E6%80%A7\"><\/span><strong>\u767a\u9054\u3068\u77e5\u80fd\u306e\u7279\u6027<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>2014\u5e74\u306eWeber\u3089\u306e\u5831\u544a\u3067\u306f\u3001\u767a\u9054\u306e\u9045\u308c\u3084\u5b66\u7fd2\u9762\u306e\u554f\u984c\u304c9\u5272\u3092\u8d85\u3048\u308b\u65b9\u306b\u307f\u3089\u308c\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u9996\u3059\u308f\u308a\u30fb\u304a\u5ea7\u308a\u30fb\u6b69\u884c\u3068\u3044\u3063\u305f\u904b\u52d5\u767a\u9054\u304c\u3086\u3063\u304f\u308a\u9032\u3080\u50be\u5411\u3084\u3001\u8a00\u8449\u306e\u7406\u89e3\u306f\u9032\u3093\u3067\u3044\u3066\u3082\u767a\u8a9e\u307e\u3067\u306b\u6642\u9593\u304c\u304b\u304b\u308b\u50be\u5411\u304c\u4ee3\u8868\u7684\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u767a\u9054\u9045\u6ede: \u9996\u3059\u308f\u308a\u3001\u304a\u5ea7\u308a\u3001\u30cf\u30a4\u30cf\u30a4\u3001\u6b69\u884c\u306a\u3069\u904b\u52d5\u767a\u9054\u304c\u3086\u3063\u304f\u308a\u9032\u3080\u50be\u5411\u3002<\/li>\n\n\n\n<li><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>: \u8efd\u5ea6\u304b\u3089\u4e2d\u7b49\u5ea6\u306e\u77e5\u7684\u767a\u9054\u306e\u9045\u308c\u304c\u591a\u304f\u3001\u500b\u5225\u306e\u5b66\u7fd2\u652f\u63f4\u304c\u5fc5\u8981\u306b\u306a\u308a\u3084\u3059\u3044\u3002<\/li>\n\n\n\n<li>\u8a00\u8a9e\u767a\u9054\u306e\u9045\u308c: \u7406\u89e3\u306f\u9032\u3093\u3067\u3044\u3066\u3082\u3001\u5b9f\u969b\u306b\u8a00\u8449\u3092\u767a\u3059\u308b(\u8868\u51fa\u8a9e)\u307e\u3067\u306b\u6642\u9593\u304c\u304b\u304b\u308b\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%BF%83%E8%87%93%E3%81%AE%E5%90%88%E4%BD%B5%E7%97%87%E3%81%AF%E7%B4%844%E4%BA%BA%E3%81%AB1%E4%BA%BA\"><\/span><strong>\u5fc3\u81d3\u306e\u5408\u4f75\u75c7\u306f\u7d044\u4eba\u306b1\u4eba<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>8p23.1\u9818\u57df\u306b\u306f\u3001\u5fc3\u81d3\u306e\u5f62\u6210\u306b\u95a2\u308f\u308b\u300cGATA4\u300d\u3068\u3044\u3046\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u307e\u3059\u3002\u4ee5\u524d\u306e\u5831\u544a\u3067\u306f\u5fc3\u81d3\u306e\u69cb\u9020\u7570\u5e38\u304c3\u5272\u304b\u30895\u5272\u7a0b\u5ea6\u306b\u307f\u3089\u308c\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u30572014\u5e74\u306eWeber\u3089\u306e\u8a73\u7d30\u306a\u691c\u8a0e\u3067\u306f\u3001\u5148\u5929\u6027\u5fc3\u75be\u60a3\u304c\u307f\u3089\u308c\u305f\u306e\u306f\u7d0425%\u3001\u3064\u307e\u308a4\u4eba\u306b1\u4eba\u7a0b\u5ea6\u3067\u3057\u305f\u30022011\u5e74\u767a\u8868\u306e\u5225\u306e\u7814\u7a76\u3067\u3082\u3001GATA4\u91cd\u8907\u306b\u3088\u308b\u5fc3\u75be\u60a3\u306f\u60f3\u5b9a\u3055\u308c\u3066\u3044\u305f\u307b\u3069\u9ad8\u983b\u5ea6\u3067\u306f\u306a\u3044\u3068\u6307\u6458\u3055\u308c\u3066\u3044\u307e\u3059\u3002<strong>\u5fc3\u81d3\u306e\u75c5\u6c17\u304c\u5fc5\u305a\u8d77\u3053\u308b\u308f\u3051\u3067\u306f\u306a\u3044\u3001\u3068\u3044\u3046\u70b9\u306f\u899a\u3048\u3066\u304a\u3044\u3066\u304f\u3060\u3055\u3044\u3002<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5fc3\u623f\u4e2d\u9694\u6b20\u640d\u75c7(ASD): \u53f3\u5fc3\u623f\u3068\u5de6\u5fc3\u623f\u3092\u9694\u3066\u308b\u58c1\u306b\u7a74\u304c\u958b\u3044\u3066\u3044\u308b\u72b6\u614b\u3002<\/li>\n\n\n\n<li>\u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d\u75c7(VSD): \u53f3\u5fc3\u5ba4\u3068\u5de6\u5fc3\u5ba4\u3092\u9694\u3066\u308b\u58c1\u306b\u7a74\u304c\u958b\u3044\u3066\u3044\u308b\u72b6\u614b\u3002<\/li>\n\n\n\n<li>\u30d5\u30a1\u30ed\u30fc\u56db\u5fb4\u75c7: \u3088\u308a\u8907\u96d1\u306a\u5fc3\u81d3\u306e\u69cb\u9020\u7570\u5e38\u3002\u591a\u304f\u306f\u4e73\u5e7c\u5150\u671f\u306e\u691c\u67fb\u3067\u767a\u898b\u3055\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%BA%AB%E4%BD%93%E7%9A%84%E3%83%BB%E5%A4%96%E8%A6%8B%E7%9A%84%E7%89%B9%E5%BE%B4\"><\/span><strong>\u8eab\u4f53\u7684\u30fb\u5916\u898b\u7684\u7279\u5fb4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3053\u308c\u3089\u306f\u500b\u6027\u306e\u7bc4\u56f2\u5185\u3067\u3042\u308b\u3053\u3068\u3082\u591a\u3044\u306e\u3067\u3059\u304c\u3001\u533b\u5b66\u7684\u306b\u5171\u901a\u3057\u3084\u3059\u3044\u7279\u5fb4\u3068\u3057\u3066\u6b21\u304c\u6319\u3052\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5e83\u3044\u984d(\u524d\u982d\u90e8\u306e\u7a81\u51fa)<\/li>\n\n\n\n<li>\u9f3b\u6839\u90e8(\u9f3b\u306e\u4ed8\u3051\u6839)\u304c\u5e73\u3089\u3001\u307e\u305f\u306f\u5e83\u3044\u3001\u4e0a\u5411\u304d\u306e\u9f3b<\/li>\n\n\n\n<li>\u8033\u306e\u4f4d\u7f6e\u304c\u308f\u305a\u304b\u306b\u4f4e\u3044\u3001\u307e\u305f\u306f\u7279\u5fb4\u7684\u306a\u5f62\u3092\u3057\u3066\u3044\u308b<\/li>\n\n\n\n<li>\u5185\u773c\u89d2\u8d05\u76ae(\u76ee\u982d\u306e\u76ae\u819a\u306e\u88ab\u3055\u308a)\u3001\u30a2\u30fc\u30c1\u72b6\u306e\u7709<\/li>\n<\/ul>\n\n\n\n<p>\u79c1\u81ea\u8eab\u3001NIPT\u306e\u3054\u76f8\u8ac7\u3092\u53d7\u3051\u308b\u4e2d\u3067\u3001\u67d3\u8272\u4f53\u75be\u60a3\u306e\u540d\u524d\u3060\u3051\u3092\u898b\u3066\u5c06\u6765\u3092\u60b2\u89b3\u3057\u3066\u3057\u307e\u3046\u3054\u5bb6\u65cf\u306e\u58f0\u3092\u6570\u591a\u304f\u4f3a\u3044\u307e\u3059\u3002\u305f\u3060\u3057\u75c7\u72b6\u306e\u91cd\u3055\u306f\u91cd\u8907\u7bc4\u56f2\u3084\u500b\u4eba\u5dee\u306b\u3088\u3063\u3066\u5927\u304d\u304f\u7570\u306a\u308a\u3001\u3053\u306e\u4e00\u89a7\u304c\u305d\u306e\u307e\u307e\u304a\u5b50\u69d8\u306b\u5f53\u3066\u306f\u307e\u308b\u3068\u306f\u9650\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%A1%8C%E5%8B%95%E3%81%A8%E3%82%B3%E3%83%9F%E3%83%A5%E3%83%8B%E3%82%B1%E3%83%BC%E3%82%B7%E3%83%A7%E3%83%B3%E3%81%AE%E7%89%B9%E5%BE%B4\"><\/span><strong>\u884c\u52d5\u3068\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u306e\u7279\u5fb4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7<\/a>(ASD)\u7684\u50be\u5411: \u5f37\u3044\u3053\u3060\u308f\u308a\u3084\u3001\u5bfe\u4eba\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u306e\u72ec\u7279\u306a\u30b9\u30bf\u30a4\u30eb\u3002<\/li>\n\n\n\n<li>\u591a\u52d5\u6027\u30fb\u6ce8\u610f\u529b\u306e\u7279\u5fb4(ADHD\u7684\u50be\u5411): \u4e00\u3064\u306e\u3053\u3068\u306b\u96c6\u4e2d\u3057\u7d9a\u3051\u308b\u306e\u304c\u96e3\u3057\u3044\u3001\u843d\u3061\u7740\u304d\u304c\u306a\u3044\u7b49\u3002<\/li>\n\n\n\n<li>\u7761\u7720\u306e\u554f\u984c: \u5bdd\u3064\u304d\u306e\u60aa\u3055\u3084\u591c\u9593\u306e\u4e2d\u9014\u899a\u9192\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\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%9A%E3%81%AA%E3%81%9C8p231%E3%81%AE%E9%87%8D%E8%A4%87%E3%81%8C%E8%B5%B7%E3%81%8D%E3%82%8B%E3%81%AE%E3%81%8B\"><\/span><strong>3. \u539f\u56e0\uff1a\u306a\u305c8p23.1\u306e\u91cd\u8907\u304c\u8d77\u304d\u308b\u306e\u304b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>8p23.1\u91cd\u8907\u75c7\u5019\u7fa4\u306e\u5927\u90e8\u5206\u306f\u3001\u4e21\u89aa\u306e\u80b2\u3066\u65b9\u3084\u598a\u5a20\u4e2d\u306e\u751f\u6d3b\u3068\u306f\u7121\u95a2\u4fc2\u306a\u3001\u5076\u767a\u7684\u306a\u67d3\u8272\u4f53\u306e\u30b3\u30d4\u30fc\u30df\u30b9\u3067\u8d77\u3053\u308a\u307e\u3059\u3002<\/strong>\u300c\u81ea\u5206\u306b\u8cac\u4efb\u304c\u3042\u308b\u306e\u3067\u306f\u300d\u3068\u60a9\u3080\u5fc5\u8981\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%BB%E3%81%A8%E3%82%93%E3%81%A9%E3%81%8C%E3%80%8C%E7%AA%81%E7%84%B6%E5%A4%89%E7%95%B0de_novo%E3%80%8D\"><\/span><strong>\u307b\u3068\u3093\u3069\u304c\u300c\u7a81\u7136\u5909\u7570(de novo)\u300d<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>8p23.1\u91cd\u8907\u75c7\u5019\u7fa4\u306e\u5927\u90e8\u5206\u306f\u3001\u300c\u30c7\u30ce\u30dc(de novo)\u300d\u3068\u547c\u3070\u308c\u308b\u73fe\u8c61\u3067\u8d77\u3053\u308a\u307e\u3059\u3002\u7cbe\u5b50\u3084\u5375\u5b50\u304c\u4f5c\u3089\u308c\u308b\u904e\u7a0b\u3001\u3042\u308b\u3044\u306f\u53d7\u7cbe\u5f8c\u3054\u304f\u521d\u671f\u306e\u7d30\u80de\u5206\u88c2\u306e\u6bb5\u968e\u3067\u3001\u5076\u7136\u306b\u67d3\u8272\u4f53\u306e\u30b3\u30d4\u30fc\u30df\u30b9\u304c\u767a\u751f\u3057\u305f\u3082\u306e\u3067\u3059\u3002\u3054\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u306f\u6b63\u5e38\u3067\u3042\u308a\u3001\u751f\u6d3b\u7fd2\u6163\u3084\u74b0\u5883\u8981\u56e0\u304c\u539f\u56e0\u306b\u306a\u308b\u3053\u3068\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"8p231%E9%A0%98%E5%9F%9F%E3%81%8C%E9%87%8D%E8%A4%87%E3%81%97%E3%82%84%E3%81%99%E3%81%84%E7%90%86%E7%94%B1\"><\/span><strong>8p23.1\u9818\u57df\u304c\u91cd\u8907\u3057\u3084\u3059\u3044\u7406\u7531<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u306a\u305c\u3001\u3053\u306e\u9818\u57df\u3067\u30a8\u30e9\u30fc\u304c\u8d77\u3053\u308a\u3084\u3059\u3044\u306e\u3067\u3057\u3087\u3046\u304b\u30028p23.1\u9818\u57df\u306e\u4e21\u7aef\u306b\u306f\u300c\u55c5\u899a\u53d7\u5bb9\u4f53\u907a\u4f1d\u5b50\u30af\u30e9\u30b9\u30bf\u30fc\u300d\u3068\u547c\u3070\u308c\u308b\u3001\u3088\u304f\u4f3c\u305f\u5869\u57fa\u914d\u5217\u306e\u584a\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7d30\u80de\u304c\u5206\u88c2\u3057\u67d3\u8272\u4f53\u304c\u7d44\u307f\u63db\u308f\u308b\u969b\u3001\u7d30\u80de\u306f\u3053\u306e\u4f3c\u305f\u914d\u5217\u3092\u540c\u3058\u5834\u6240\u3060\u3068\u52d8\u9055\u3044\u3057\u3066\u30da\u30a2\u3092\u7d44\u3093\u3067\u3057\u307e\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u3092\u975e\u5bfe\u7acb\u907a\u4f1d\u5b50\u9593\u76f8\u540c\u7d44\u63db\u3048(NAHR)\u3068\u547c\u3073\u307e\u3059\u3002\u3053\u306e\u52d8\u9055\u3044\u306b\u3088\u308b\u7d44\u307f\u63db\u3048\u306e\u7d50\u679c\u3001\u7279\u5b9a\u306e\u9818\u57df\u304c2\u500d\u306b\u306a\u308b(\u91cd\u8907)\u3001\u3042\u308b\u3044\u306f\u5931\u308f\u308c\u308b(\u6b20\u5931)\u3068\u3044\u3046\u73fe\u8c61\u304c\u3001\u751f\u7269\u5b66\u7684\u306a\u30db\u30c3\u30c8\u30b9\u30dd\u30c3\u30c8\u3068\u3057\u3066\u8d77\u3053\u308a\u3084\u3059\u304f\u306a\u308b\u306e\u3067\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%AB%E3%82%88%E3%82%8B%E3%82%B1%E3%83%BC%E3%82%B9%E5%9D%87%E8%A1%A1%E5%9E%8B%E8%BB%A2%E5%BA%A7\"><\/span><strong>\u907a\u4f1d\u306b\u3088\u308b\u30b1\u30fc\u30b9(\u5747\u8861\u578b\u8ee2\u5ea7)<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u7a00\u306b\u3001\u3054\u4e21\u89aa\u306e\u3069\u3061\u3089\u304b\u304c\u300c\u5747\u8861\u578b\u8ee2\u5ea7\u300d\u3092\u6301\u3063\u3066\u3044\u308b\u5834\u5408\u306b\u907a\u4f1d\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u5165\u308c\u66ff\u308f\u3063\u3066\u3044\u308b\u3082\u306e\u306e\u907a\u4f1d\u5b50\u306e\u7dcf\u91cf\u306b\u904e\u4e0d\u8db3\u304c\u306a\u304f\u3001\u89aa\u5fa1\u3055\u3093\u81ea\u8eab\u306b\u306f\u75c7\u72b6\u304c\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u304a\u5b50\u69d8\u306b\u5f15\u304d\u7d99\u304c\u308c\u308b\u969b\u306b\u300c\u4e0d\u5747\u8861(\u91cd\u8907\u3084\u6b20\u5931)\u300d\u3068\u3057\u3066\u73fe\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u306e\u53ef\u80fd\u6027\u306e\u6709\u7121\u306f\u3001\u5c02\u9580\u533b\u306b\u3088\u308b\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u78ba\u8a8d\u3057\u3066\u304f\u3060\u3055\u3044\u3002\u6b21\u306e\u304a\u5b50\u69d8\u3078\u306e\u5f71\u97ff\u3092\u8003\u3048\u308b\u3046\u3048\u3067\u3082\u3001\u78ba\u8a8d\u3057\u3066\u304a\u304f\u3068\u5b89\u5fc3\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_NIPT%E6%96%B0%E5%9E%8B%E5%87%BA%E7%94%9F%E5%89%8D%E8%A8%BA%E6%96%AD%E3%81%A7%E3%81%93%E3%81%AE%E7%96%BE%E6%82%A3%E3%81%AF%E3%82%8F%E3%81%8B%E3%82%8B%E3%81%AE%E3%81%8B\"><\/span><strong>4. NIPT(\u65b0\u578b\u51fa\u751f\u524d\u8a3a\u65ad)\u3067\u3053\u306e\u75be\u60a3\u306f\u308f\u304b\u308b\u306e\u304b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>8p23.1\u91cd\u8907\u75c7\u5019\u7fa4\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u30fb\u91cd\u8907\u75be\u60a3\u307e\u3067\u5bfe\u8c61\u3092\u5e83\u3052\u305fNIPT\u306e\u30aa\u30d7\u30b7\u30e7\u30f3\u691c\u67fb\u3067\u5bfe\u8c61\u3068\u306a\u308a\u5f97\u308b\u75be\u60a3\u306e\u4e00\u3064\u3067\u3059\u3002<\/strong>\u305f\u3060\u3057\u3001\u78ba\u5b9a\u8a3a\u65ad\u3067\u306f\u306a\u3044\u70b9\u306b\u6ce8\u610f\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p>NIPT\u306e\u57fa\u672c\u691c\u67fb(21\u30fb18\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/patau-syndrome\/\">13\u30c8\u30ea\u30bd\u30df\u30fc<\/a>\u7b49)\u306f\u30018p23.1\u306e\u3088\u3046\u306a\u67d3\u8272\u4f53\u306e\u5fae\u7d30\u306a\u91cd\u8907\u30fb\u6b20\u5931\u3092\u5bfe\u8c61\u3068\u3057\u3066\u3044\u307e\u305b\u3093\u3002\u4e00\u65b9\u3001\u691c\u67fb\u30d7\u30e9\u30f3\u306b\u3088\u3063\u3066\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3092\u4f34\u3046<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u30fb\u91cd\u8907\u75be\u60a3\u307e\u3067\u5bfe\u8c61\u3092\u5e83\u3052\u305f\u30aa\u30d7\u30b7\u30e7\u30f3\u304c\u7528\u610f\u3055\u308c\u3066\u3044\u307e\u3059\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">143\u7a2e\u306e\u5fae\u5c0f\u6b20\u5931\u30fb\u91cd\u8907\u75be\u60a3\u3092\u5bfe\u8c61\u3068\u3059\u308b\u691c\u67fb<\/a>\u306b\u306f\u30018p23.1\u91cd\u8907\u75c7\u5019\u7fa4\u3082\u63b2\u8f09\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3054\u81ea\u8eab\u304c\u691c\u8a0e\u3057\u3066\u3044\u308b\u691c\u67fb\u30d7\u30e9\u30f3\u304c\u3069\u3053\u307e\u3067\u5bfe\u8c61\u306b\u542b\u3080\u304b\u306f\u3001\u65bd\u8a2d\u3054\u3068\u306b\u7570\u306a\u308a\u307e\u3059\u3002<strong>\u53d7\u691c\u4e88\u5b9a\u306e\u65bd\u8a2d\u306b\u76f4\u63a5\u78ba\u8a8d\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/strong>\u3042\u308f\u305b\u3066\u3001<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\u306e\u89e3\u8aac\u8a18\u4e8b<\/a>\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/can-intellectual-disability-be-detected-in-womb\/\">\u77e5\u7684\u969c\u5bb3\u306f\u304a\u8179\u306e\u4e2d\u3067\u308f\u304b\u308b\u306e\u304b\u3092\u89e3\u8aac\u3057\u305f\u8a18\u4e8b<\/a>\u3082\u53c2\u8003\u306b\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<p>\u3082\u3046\u4e00\u3064\u77e5\u3063\u3066\u304a\u3044\u3066\u3044\u305f\u3060\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\u3060\u3068\u3044\u3046\u70b9\u3067\u3059\u3002<\/strong>\u967d\u6027\u306e\u6240\u898b\u304c\u51fa\u305f\u5834\u5408\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u306a\u3069\u3067\u78ba\u5b9a\u8a3a\u65ad\u3092\u884c\u3044\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u67d3\u8272\u4f53\u691c\u67fb(CMA)\u3067\u91cd\u8907\u306e\u6709\u7121\u3084\u7bc4\u56f2\u3092\u78ba\u8a8d\u3059\u308b\u6d41\u308c\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>2023\u5e74\u306b\u5831\u544a\u3055\u308c\u305f\u75c7\u4f8b\u3067\u306f\u3001\u901a\u5e38\u3088\u308a\u5927\u304d\u30443.75Mb\u306e\u91cd\u8907\u3092\u6301\u3064\u80ce\u5150\u306b\u3001\u81cd\u5e2f\u30d8\u30eb\u30cb\u30a2\u3068\u8133\u306e\u56a2\u80de\u3068\u3044\u3046\u91cd\u3044\u6240\u898b\u304c\u307f\u3089\u308c\u307e\u3057\u305f\u3002\u6b8b\u5ff5\u306a\u304c\u3089\u3001\u3053\u306e\u8d64\u3061\u3083\u3093\u306f\u51fa\u751f\u5f8c\u307e\u3082\u306a\u304f\u4ea1\u304f\u306a\u3063\u3066\u3044\u307e\u3059\u3002\u8457\u8005\u3089\u306f\u3001\u3053\u308c\u304c\u672c\u75c7\u5019\u7fa4\u306e\u300c\u91cd\u75c7\u578b\u300d\u3092\u793a\u3059\u7279\u6b8a\u306a\u4f8b\u3060\u3068\u3057\u3066\u3044\u307e\u3059\u3002\u591a\u304f\u306e8p23.1\u91cd\u8907\u75c7\u5019\u7fa4\u306f\u3001\u3053\u306e\u3088\u3046\u306a\u91cd\u3044\u7d4c\u904e\u3092\u305f\u3069\u308b\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u500b\u3005\u306e\u91cd\u75c7\u5ea6\u306f\u3001\u91cd\u8907\u7bc4\u56f2\u3084\u968f\u4f34\u3059\u308b\u6240\u898b\u306b\u3088\u3063\u3066\u5927\u304d\u304f\u7570\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4eca\u56de\u3001\u3053\u306e\u75be\u60a3\u306b\u3064\u3044\u3066\u56fd\u5185\u306e\u5b9f\u4f53\u9a13\u306b\u57fa\u3065\u304f\u6295\u7a3f\u3092X(\u65e7Twitter)\u3067\u63a2\u3057\u307e\u3057\u305f\u304c\u3001\u8a72\u5f53\u3059\u308b\u6295\u7a3f\u306f\u898b\u5f53\u305f\u308a\u307e\u305b\u3093\u3067\u3057\u305f\u3002\u5e0c\u5c11\u75be\u60a3\u3067\u3042\u308b\u305f\u3081\u4e00\u6b21\u60c5\u5831\u304c\u4e4f\u3057\u3044\u306e\u306f\u81ea\u7136\u306a\u3053\u3068\u3067\u3059\u3002\u672c\u8a18\u4e8b\u3067\u306f\u4ee3\u308f\u308a\u306b\u3001Weber\u3089(2014\u5e74)\u306e\u5b66\u8853\u8ad6\u6587\u3068\u3001GARD(\u7c73\u56fd\u56fd\u7acb\u885b\u751f\u7814\u7a76\u6240\u306e\u5e0c\u5c11\u75be\u60a3\u60c5\u5831\u30bb\u30f3\u30bf\u30fc)\u3001\u65e5\u672c\u7523\u79d1\u5a66\u4eba\u79d1\u5b66\u4f1a\u306eNIPT\u6307\u91dd\u3092\u6839\u62e0\u3068\u3057\u3066\u3044\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\/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<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"5_%E8%A8%BA%E6%96%AD%E3%81%A8%E6%A4%9C%E6%9F%BB\"><\/span><strong>5. \u8a3a\u65ad\u3068\u691c\u67fb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u6b63\u78ba\u306a\u8a3a\u65ad\u306f\u3001\u304a\u5b50\u69d8\u306e\u7279\u6027\u3092\u7406\u89e3\u3057\u3001\u9069\u5207\u306a\u533b\u7642\u30fb\u6559\u80b2\u30b5\u30fc\u30d3\u30b9\u306b\u3064\u306a\u3052\u308b\u305f\u3081\u306e\u9375\u306b\u306a\u308a\u307e\u3059\u3002<\/strong>\u8a3a\u65ad\u306b\u81f3\u308b\u307e\u3067\u306e\u4e3b\u306a\u691c\u67fb\u3092\u898b\u3066\u3044\u304d\u307e\u3057\u3087\u3046\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%BBCMA\"><\/span><strong>\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u691c\u67fb(CMA)<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u73fe\u5728\u30018p23.1\u91cd\u8907\u75c7\u5019\u7fa4\u3092\u8a3a\u65ad\u3059\u308b\u305f\u3081\u306e\u6700\u3082\u78ba\u5b9f\u306a\u691c\u67fb\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u691c\u67fb\u3067\u3059\u3002\u5f93\u6765\u306e\u67d3\u8272\u4f53\u691c\u67fb(G\u5206\u67d3\u6cd5)\u306f\u9855\u5fae\u93e1\u3067\u67d3\u8272\u4f53\u306e\u6570\u3084\u5927\u304d\u306a\u5f62\u3092\u898b\u308b\u305f\u3081\u30018p23.1\u306e\u3088\u3046\u306a\u5fae\u7d30\u306a\u91cd\u8907\u306f\u898b\u9003\u3055\u308c\u304c\u3061\u3067\u3057\u305f\u3002<\/p>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u691c\u67fb\u306f\u3001\u5168\u30b2\u30ce\u30e0\u3092\u9ad8\u89e3\u50cf\u5ea6\u3067\u30b9\u30ad\u30e3\u30f3\u3057\u3001\u6570\u5343\u304b\u3089\u6570\u4e07\u306eDNA\u30b9\u30dd\u30c3\u30c8\u3092\u6bd4\u8f03\u3057\u307e\u3059\u3002\u3053\u306e\u65b9\u6cd5\u306b\u3088\u308a\u3001\u5fae\u7d30\u306a\u91cd\u8907\u3092\u78ba\u5b9f\u306b\u6349\u3048\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%9D%E3%81%AE%E4%BB%96%E3%81%AE%E9%81%BA%E4%BC%9D%E5%AD%90%E6%A4%9C%E6%9F%BB\"><\/span><strong>\u305d\u306e\u4ed6\u306e\u907a\u4f1d\u5b50\u691c\u67fb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>FISH\u6cd5: \u7279\u5b9a\u306e\u907a\u4f1d\u5b50(GATA4\u7b49)\u306e\u91cd\u8907\u3092\u3001\u86cd\u5149\u5857\u6599\u3092\u7528\u3044\u3066\u30d4\u30f3\u30dd\u30a4\u30f3\u30c8\u3067\u78ba\u8a8d\u3059\u308b\u624b\u6cd5\u3002<\/li>\n\n\n\n<li>\u67d3\u8272\u4f53\u6838\u578b\u5206\u6790(G\u5206\u67d3\u6cd5): \u5927\u304d\u306a\u69cb\u9020\u7570\u5e38\u304c\u306a\u3044\u304b\u3001\u5168\u4f53\u50cf\u3092\u78ba\u8a8d\u3059\u308b\u305f\u3081\u306b\u5b9f\u65bd\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%A8%BA%E6%96%AD%E5%BE%8C%E3%81%AE%E9%9A%8F%E4%BC%B4%E7%97%87%E7%8A%B6%E3%83%81%E3%82%A7%E3%83%83%E3%82%AF\"><\/span><strong>\u8a3a\u65ad\u5f8c\u306e\u968f\u4f34\u75c7\u72b6\u30c1\u30a7\u30c3\u30af<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8a3a\u65ad\u5f8c\u306f\u3001\u5168\u8eab\u306e\u5065\u5eb7\u72b6\u614b\u3092\u628a\u63e1\u3059\u308b\u305f\u3081\u306b\u6b21\u306e\u691c\u67fb\u304c\u4e00\u822c\u7684\u306b\u884c\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li>\u5fc3\u30a8\u30b3\u30fc(\u8d85\u97f3\u6ce2\u691c\u67fb): \u5fc3\u81d3\u306e\u7a74\u3084\u5f01\u306e\u72b6\u614b\u3092\u78ba\u8a8d\u3002<\/li>\n\n\n\n<li>\u8179\u90e8\u30a8\u30b3\u30fc: \u814e\u81d3\u3084\u6d88\u5316\u7ba1\u306e\u5f62\u72b6\u3092\u78ba\u8a8d\u3002<\/li>\n\n\n\n<li>\u8133\u6ce2\u691c\u67fb: \u3066\u3093\u304b\u3093\u306e\u3088\u3046\u306a\u7570\u5e38\u306a\u96fb\u6c17\u6d3b\u52d5\u304c\u306a\u3044\u304b\u3092\u78ba\u8a8d\u3002<\/li>\n\n\n\n<li>\u767a\u9054\u8a55\u4fa1: \u8a00\u8449\u3084\u904b\u52d5\u3001\u8a8d\u77e5\u80fd\u529b\u306e\u6bb5\u968e\u3092\u8a55\u4fa1\u3057\u3001\u7642\u80b2\u8a08\u753b\u306e\u571f\u53f0\u306b\u3059\u308b\u3002<\/li>\n<\/ol>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"640\" height=\"479\" src=\"\/nipt\/wp-content\/uploads\/2025\/10\/22826504_s-1.webp\" alt=\"\u8d64\u3061\u3083\u3093\" class=\"wp-image-117054\"\/><\/figure><\/div>\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"6_%E6%B2%BB%E7%99%82%E3%81%A8%E7%99%82%E8%82%B2%E3%83%BB%E6%94%AF%E6%8F%B4\"><\/span><strong>6. \u6cbb\u7642\u3068\u7642\u80b2\u30fb\u652f\u63f4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>8p23.1\u91cd\u8907\u305d\u306e\u3082\u306e\u3092\u5143\u306b\u623b\u3059\u6cbb\u7642\u6cd5\u306f\u3001\u73fe\u5728\u306e\u533b\u5b66\u306b\u306f\u307e\u3060\u3042\u308a\u307e\u305b\u3093\u3002<\/strong>\u5927\u5207\u306a\u306e\u306f\u3001\u75c7\u72b6\u306b\u5bfe\u51e6\u3059\u308b\u5bfe\u75c7\u7642\u6cd5\u3068\u3001\u767a\u9054\u3092\u4fc3\u3059\u65e9\u671f\u7642\u80b2\u306e\u4e21\u8f2a\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%8C%BB%E7%99%82%E7%9A%84%E3%82%B1%E3%82%A2\"><\/span><strong>\u533b\u7642\u7684\u30b1\u30a2<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5fc3\u75be\u60a3\u306e\u7ba1\u7406: \u5c0f\u5150\u5faa\u74b0\u5668\u79d1\u5c02\u9580\u533b\u306e\u30d5\u30a9\u30ed\u30fc\u304c\u5fc5\u8981\u3002\u8efd\u5ea6\u306a\u7a74\u306f\u81ea\u7136\u9589\u9396\u3092\u5f85\u3061\u3001\u8840\u6d41\u3078\u306e\u5f71\u97ff\u304c\u3042\u308c\u3070\u624b\u8853\u3092\u691c\u8a0e\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3066\u3093\u304b\u3093\u306e\u6cbb\u7642: \u767a\u4f5c\u304c\u3042\u308b\u5834\u5408\u3001\u6297\u3066\u3093\u304b\u3093\u85ac\u3067\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u7761\u7720\u30fb\u884c\u52d5\u306e\u30b5\u30dd\u30fc\u30c8: \u74b0\u5883\u8abf\u6574\u3084\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u305f\u6295\u85ac\u306e\u691c\u8a0e\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%99%BA%E9%81%94%E6%94%AF%E6%8F%B4%E7%99%82%E8%82%B2\"><\/span><strong>\u767a\u9054\u652f\u63f4(\u7642\u80b2)<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8133\u304c\u67d4\u8edf\u306a\u5e7c\u5150\u671f\u304b\u3089\u3001\u6b21\u306e\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u3092\u59cb\u3081\u308b\u3053\u3068\u304c\u671b\u307e\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u7406\u5b66\u7642\u6cd5(PT): \u4f4e\u7dca\u5f35(\u7b4b\u529b\u306e\u5f31\u3055)\u3092\u88dc\u3044\u3001\u6b69\u884c\u3084\u59ff\u52e2\u4fdd\u6301\u3092\u52a9\u3051\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u4f5c\u696d\u7642\u6cd5(OT): \u624b\u5148\u306e\u5668\u7528\u3055\u3001\u98df\u4e8b\u3084\u7740\u66ff\u3048\u306a\u3069\u306e\u65e5\u5e38\u52d5\u4f5c\u3001\u611f\u899a\u306e\u8abf\u6574\u3092\u52a9\u3051\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8a00\u8a9e\u8074\u899a\u7642\u6cd5(ST): \u767a\u8a9e\u3060\u3051\u3067\u306a\u304f\u3001\u7d75\u30ab\u30fc\u30c9\u3084\u30bf\u30d6\u30ec\u30c3\u30c8\u7aef\u672b\u3092\u4f7f\u3063\u305f\u610f\u601d\u4f1d\u9054\u306e\u7df4\u7fd2\u3082\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u767a\u9054\u969c\u5bb3\u3084\u7642\u80b2\u306b\u95a2\u3059\u308b\u5236\u5ea6\u306f\u3001\u56fd\u7acb\u969c\u5bb3\u8005\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u30bb\u30f3\u30bf\u30fc\u306e<a href=\"https:\/\/www.rehab.go.jp\/ddis\/\" target=\"_blank\" rel=\"noopener\">\u767a\u9054\u969c\u5bb3\u60c5\u5831\u30fb\u652f\u63f4\u30bb\u30f3\u30bf\u30fc<\/a>\u3067\u3082\u8a73\u3057\u304f\u7d39\u4ecb\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u5730\u57df\u306e\u7642\u80b2\u30bb\u30f3\u30bf\u30fc\u3084\u5150\u7ae5\u767a\u9054\u652f\u63f4\u4e8b\u696d\u6240\u3078\u306e\u76f8\u8ac7\u7a93\u53e3\u3068\u3057\u3066\u3082\u53c2\u8003\u306b\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%95%99%E8%82%B2%E7%9A%84%E9%85%8D%E6%85%AE\"><\/span><strong>\u6559\u80b2\u7684\u914d\u616e<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u77e5\u7684\u306a\u767a\u9054\u6bb5\u968e\u306b\u5408\u308f\u305b\u3001\u7279\u5225\u652f\u63f4\u5b66\u6821\u3084\u7279\u5225\u652f\u63f4\u5b66\u7d1a\u3067\u300c\u500b\u5225\u306e\u6559\u80b2\u652f\u63f4\u8a08\u753b\u300d\u3092\u4f5c\u6210\u3057\u3066\u3082\u3089\u3046\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002\u7d75\u30ab\u30fc\u30c9\u3084\u30b9\u30b1\u30b8\u30e5\u30fc\u30eb\u8868\u306a\u3069\u3001\u8996\u899a\u7684\u306a\u60c5\u5831\u63d0\u793a\u3092\u597d\u3080\u304a\u5b50\u69d8\u304c\u591a\u304f\u3001\u74b0\u5883\u3092\u6574\u3048\u308b\u3053\u3068\u3067\u5b66\u7fd2\u610f\u6b32\u304c\u9ad8\u307e\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u73fe\u5834\u3067\u306f\u3001\u300c\u3053\u306e\u8a3a\u65ad\u540d\u3067\u5c06\u6765\u3069\u3053\u307e\u3067\u6210\u9577\u3067\u304d\u308b\u306e\u304b\u300d\u3068\u3044\u3046\u3054\u8cea\u554f\u3092\u6570\u591a\u304f\u3044\u305f\u3060\u304d\u307e\u3059\u3002\u5b9f\u969b\u306e\u898b\u901a\u3057\u306f\u75c7\u4f8b\u3054\u3068\u306e\u5dee\u304c\u5927\u304d\u3044\u3082\u306e\u3067\u3059\u3002\u5c02\u9580\u533b\u3068\u306e\u7d99\u7d9a\u7684\u306a\u95a2\u308f\u308a\u306e\u4e2d\u3067\u5c11\u3057\u305a\u3064\u898b\u3048\u3066\u304f\u308b\u3001\u3068\u3044\u3046\u306e\u304c\u5b9f\u611f\u3067\u3059\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"7_%E3%81%BE%E3%81%A8%E3%82%81\"><\/span><strong>7. \u307e\u3068\u3081<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>8p23.1\u91cd\u8907\u75c7\u5019\u7fa4\u306f\u907a\u4f1d\u5b50\u306e\u91cd\u8907\u3068\u3044\u3046\u78ba\u304b\u306a\u539f\u56e0\u304c\u3042\u308b\u75be\u60a3\u3067\u3059\u304c\u3001\u305d\u308c\u306f\u304a\u5b50\u69d8\u306e\u53ef\u80fd\u6027\u3092\u5426\u5b9a\u3059\u308b\u3082\u306e\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u500b\u5225\u6027\u304c\u5f37\u3044: \u75c7\u72b6\u306f\u4eba\u305d\u308c\u305e\u308c\u3067\u3059\u3002\u540c\u3058\u8a3a\u65ad\u540d\u3067\u3082\u3001\u5f97\u610f\u306a\u3053\u3068\u3084\u82e6\u624b\u306a\u3053\u3068\u306f\u7570\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5fc3\u81d3\u306e\u30c1\u30a7\u30c3\u30af\u3092\u512a\u5148: \u8a3a\u65ad\u304c\u3064\u3044\u305f\u3089\u3001\u307e\u305a\u306f\u5faa\u74b0\u5668\u79d1\u3067\u306e\u7cbe\u5bc6\u691c\u67fb\u3092\u53d7\u3051\u307e\u3057\u3087\u3046\u3002\u305f\u3060\u3057\u5fc3\u75be\u60a3\u306e\u983b\u5ea6\u306f\u7d044\u4eba\u306b1\u4eba\u306b\u3068\u3069\u307e\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u30c1\u30fc\u30e0\u3067\u652f\u3048\u308b: \u5bb6\u65cf\u3060\u3051\u3067\u62b1\u3048\u8fbc\u307e\u305a\u3001\u533b\u5e2b\u30fb\u30bb\u30e9\u30d4\u30b9\u30c8\u30fb\u6559\u54e1\u30fb\u5730\u57df\u306e\u798f\u7949\u30b5\u30fc\u30d3\u30b9(\u7642\u80b2\u624b\u5e33\u3084\u53d7\u7d66\u8005\u8a3c\u306e\u6d3b\u7528)\u3068\u9023\u643a\u3057\u307e\u3057\u3087\u3046\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"8_%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. \u5bb6\u65cf\u3078\u306e\u30e1\u30c3\u30bb\u30fc\u30b8<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u300c\u67d3\u8272\u4f53\u75be\u60a3\u300d\u3068\u3044\u3046\u8a00\u8449\u306e\u91cd\u307f\u306b\u3001\u5c06\u6765\u3078\u306e\u5e0c\u671b\u304c\u898b\u3048\u306a\u304f\u306a\u308b\u3053\u3068\u3082\u3042\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002\u3057\u304b\u30578p23.1\u91cd\u8907\u3092\u6301\u3064\u304a\u5b50\u69d8\u305f\u3061\u306f\u3001\u5468\u56f2\u306e\u4eba\u3092\u7652\u3084\u3059\u3088\u3046\u306a\u512a\u3057\u3044\u7b11\u9854\u3092\u898b\u305b\u305f\u308a\u3001\u72ec\u81ea\u306e\u8996\u70b9\u3067\u7269\u4e8b\u3092\u697d\u3057\u3093\u3060\u308a\u3059\u308b\u3001\u7d20\u6674\u3089\u3057\u3044\u500b\u6027\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u767a\u9054\u306e\u30b9\u30d4\u30fc\u30c9\u306f\u3001\u4ed6\u306e\u5b50\u3068\u6bd4\u3079\u308c\u3070\u3086\u3063\u304f\u308a\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002\u305d\u308c\u3067\u3082\u5f7c\u3089\u306f\u5f7c\u3089\u306a\u308a\u306e\u30da\u30fc\u30b9\u3067\u3001\u6628\u65e5\u3067\u304d\u306a\u304b\u3063\u305f\u3053\u3068\u3092\u4eca\u65e5\u3067\u304d\u308b\u3088\u3046\u306b\u306a\u308a\u307e\u3059\u3002\u305d\u306e\u4e00\u6b69\u4e00\u6b69\u306e\u6210\u9577\u306f\u3001\u3054\u5bb6\u65cf\u306b\u3068\u3063\u3066\u3082\u5927\u304d\u306a\u559c\u3073\u306b\u306a\u308b\u306f\u305a\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u73fe\u5728\u3001\u56fd\u5185\u3067\u3082\u5e0c\u5c11\u67d3\u8272\u4f53\u75be\u60a3\u306e\u5bb6\u65cf\u4f1a\u3084SNS\u3092\u901a\u3058\u305f\u30b3\u30df\u30e5\u30cb\u30c6\u30a3\u304c\u5e83\u304c\u3063\u3066\u3044\u307e\u3059\u3002\u540c\u3058\u5883\u9047\u306e\u4eba\u3005\u3068\u3064\u306a\u304c\u308a\u3001\u60c5\u5831\u3084\u60a9\u307f\u3092\u5206\u304b\u3061\u5408\u3046\u3053\u3068\u306f\u3001\u5927\u304d\u306a\u5fc3\u306e\u652f\u3048\u306b\u306a\u308a\u307e\u3059\u3002\u7126\u3089\u305a\u3001\u4e00\u6b69\u305a\u3064\u3001\u304a\u5b50\u69d8\u3068\u4e00\u7dd2\u306b\u6b69\u3093\u3067\u3044\u304d\u307e\u3057\u3087\u3046\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/nipt-microdeletion-risks\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u67d3\u8272\u4f53\u306e\u5fae\u7d30\u306a\u7570\u5e38\u304c\u3082\u305f\u3089\u3059\u3001\u76ee\u306b\u898b\u3048\u306b\u304f\u3044\u969c\u5bb3\u306e\u30ea\u30b9\u30af <\/div>\n          <div class=\"blog-card-excerpt\">\u67d3\u8272\u4f53\u306e\u5fae\u7d30\u7570\u5e38\u306f\u5916\u898b\u304b\u3089\u6c17\u3065\u304d\u306b\u304f\u304f\u3001\u77e5\u7684\u969c\u5bb3\u3084\u767a\u9054\u969c\u5bb3\u306e\u539f\u56e0\u3068\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002NIPT\u306b\u3088\u308b\u30ea\u30b9\u30af\u628a\u63e1\u3068\u5099\u3048\u3092\u5c02\u9580\u7684\u306b\u89e3\u8aac\u3002\u30d2\u30ed\u30af\u30ea...<\/div>\n      <\/div>\n    <\/a>\n\n\n\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--2\"><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>\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<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=\"8p231%E9%87%8D%E8%A4%87%E7%97%87%E5%80%99%E7%BE%A4%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>8p23.1\u91cd\u8907\u75c7\u5019\u7fa4\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>8\u756a\u67d3\u8272\u4f53\u77ed\u8155\u306e8p23.1\u9818\u57df\u304c\u901a\u5e38\u3088\u308a\u591a\u304f\u5b58\u5728\u3059\u308b\u3053\u3068\u3067\u751f\u3058\u308b\u3001\u7a00\u306a\u67d3\u8272\u4f53\u75be\u60a3\u3067\u3059\u3002\u767a\u9054\u306e\u9045\u308c\u3084\u5fc3\u81d3\u306e\u5408\u4f75\u75c7\u304c\u4ee3\u8868\u7684\u306a\u7279\u5fb4\u3067\u3059\u304c\u3001\u75c7\u72b6\u306e\u7a0b\u5ea6\u306b\u306f\u500b\u4eba\u5dee\u304c\u5927\u304d\u3044\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%BF%83%E8%87%93%E3%81%AE%E7%97%85%E6%B0%97%E3%81%AF%E5%BF%85%E3%81%9A%E8%B5%B7%E3%81%93%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u5fc3\u81d3\u306e\u75c5\u6c17\u306f\u5fc5\u305a\u8d77\u3053\u308a\u307e\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5fc5\u305a\u8d77\u3053\u308b\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u4ee5\u524d\u306f3\u5272\u304b\u30895\u5272\u7a0b\u5ea6\u3068\u3055\u308c\u3066\u3044\u307e\u3057\u305f\u304c\u30012014\u5e74\u306e\u7814\u7a76\u3067\u306f\u5148\u5929\u6027\u5fc3\u75be\u60a3\u304c\u307f\u3089\u308c\u305f\u306e\u306f\u7d0425%\u3067\u3057\u305f\u3002\u5fc3\u30a8\u30b3\u30fc\u306b\u3088\u308b\u78ba\u8a8d\u306f\u91cd\u8981\u3067\u3059\u304c\u3001\u904e\u5ea6\u306b\u5fc3\u914d\u3057\u3059\u304e\u308b\u5fc5\u8981\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%A6%AA%E3%81%AE%E8%82%B2%E3%81%A6%E6%96%B9%E3%82%84%E5%A6%8A%E5%A8%A0%E4%B8%AD%E3%81%AE%E7%94%9F%E6%B4%BB%E3%81%8C%E5%8E%9F%E5%9B%A0%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u89aa\u306e\u80b2\u3066\u65b9\u3084\u598a\u5a20\u4e2d\u306e\u751f\u6d3b\u304c\u539f\u56e0\u3067\u3059\u304b\u3002<span 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/patau-syndrome\/\">13\u30c8\u30ea\u30bd\u30df\u30fc<\/a>\u306a\u3069\u306e\u57fa\u672c\u691c\u67fb\u306e\u5bfe\u8c61\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u4e00\u90e8\u306e\u30d7\u30e9\u30f3\u3067\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3092\u4f34\u3046<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u30fb\u91cd\u8907\u75be\u60a3\u307e\u3067\u5bfe\u8c61\u3092\u5e83\u3052\u305f\u30aa\u30d7\u30b7\u30e7\u30f3\u691c\u67fb\u304c\u3042\u308a\u30018p23.1\u91cd\u8907\u75c7\u5019\u7fa4\u3082\u5bfe\u8c61\u75be\u60a3\u306b\u542b\u307e\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u5bfe\u5fdc\u7bc4\u56f2\u306f\u65bd\u8a2d\u306b\u3088\u3063\u3066\u7570\u306a\u308b\u305f\u3081\u3001\u691c\u8a0e\u4e2d\u306e\u65bd\u8a2d\u306b\u76f4\u63a5\u78ba\u8a8d\u3057\u3066\u304f\u3060\u3055\u3044\u3002\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\u306b\u3088\u308b\u78ba\u5b9a\u691c\u67fb\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%85%84%E5%BC%9F%E5%A7%89%E5%A6%B9%E3%81%AB%E3%82%82%E5%90%8C%E3%81%98%E3%81%93%E3%81%A8%E3%81%8C%E8%B5%B7%E3%81%93%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u5144\u5f1f\u59c9\u59b9\u306b\u3082\u540c\u3058\u3053\u3068\u304c\u8d77\u3053\u308a\u307e\u3059\u304b\u3002<span 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id=\"%E8%A8%BA%E6%96%AD%E5%BE%8C%E3%81%AB%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E6%94%AF%E6%8F%B4%E3%81%8C%E5%8F%97%E3%81%91%E3%82%89%E3%82%8C%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u8a3a\u65ad\u5f8c\u306b\u3069\u306e\u3088\u3046\u306a\u652f\u63f4\u304c\u53d7\u3051\u3089\u308c\u307e\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u7406\u5b66\u7642\u6cd5\u30fb\u4f5c\u696d\u7642\u6cd5\u30fb\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\u306a\u3069\u306e\u65e9\u671f\u7642\u80b2\u3084\u3001\u7279\u5225\u652f\u63f4\u6559\u80b2\u3092\u53d7\u3051\u3089\u308c\u307e\u3059\u3002\u7642\u80b2\u624b\u5e33\u3084\u969c\u5bb3\u5150\u798f\u7949\u624b\u5f53\u306a\u3069\u306e\u5236\u5ea6\u3082\u5229\u7528\u3067\u304d\u308b\u5834\u5408\u304c\u3042\u308b\u305f\u3081\u3001\u304a\u4f4f\u307e\u3044\u306e\u81ea\u6cbb\u4f53\u3084\u767a\u9054\u969c\u5bb3\u8005\u652f\u63f4\u30bb\u30f3\u30bf\u30fc\u306b\u76f8\u8ac7\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<p 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\"text\": \"\u591a\u304f\u306f\u30c7\u30ce\u30dc(\u65b0\u898f)\u306e\u5909\u5316\u306e\u305f\u3081\u3001\u6b21\u306e\u304a\u5b50\u69d8\u306b\u540c\u3058\u3053\u3068\u304c\u8d77\u3053\u308b\u53ef\u80fd\u6027\u306f\u9ad8\u304f\u3042\u308a\u307e\u305b\u3093\u3002\u305f\u3060\u3057\u3001\u3054\u4e21\u89aa\u306e\u3069\u3061\u3089\u304b\u304c\u5747\u8861\u578b\u8ee2\u5ea7\u3092\u6301\u3064\u7a00\u306a\u30b1\u30fc\u30b9\u3067\u306f\u3001\u518d\u767a\u306e\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002\u81e8\u5e8a\u907a\u4f1d\u5c02\u9580\u533b\u306b\u3088\u308b\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u500b\u5225\u306b\u78ba\u8a8d\u3057\u3066\u304f\u3060\u3055\u3044\u3002\"\n      }\n    },\n    {\n      \"@type\": \"Question\",\n      \"name\": \"\u8a3a\u65ad\u5f8c\u306b\u3069\u306e\u3088\u3046\u306a\u652f\u63f4\u304c\u53d7\u3051\u3089\u308c\u307e\u3059\u304b\u3002\",\n      \"acceptedAnswer\": {\n        \"@type\": \"Answer\",\n        \"text\": \"\u7406\u5b66\u7642\u6cd5\u30fb\u4f5c\u696d\u7642\u6cd5\u30fb\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\u306a\u3069\u306e\u65e9\u671f\u7642\u80b2\u3084\u3001\u7279\u5225\u652f\u63f4\u6559\u80b2\u3092\u53d7\u3051\u3089\u308c\u307e\u3059\u3002\u7642\u80b2\u624b\u5e33\u3084\u969c\u5bb3\u5150\u798f\u7949\u624b\u5f53\u306a\u3069\u306e\u5236\u5ea6\u3082\u5229\u7528\u3067\u304d\u308b\u5834\u5408\u304c\u3042\u308b\u305f\u3081\u3001\u304a\u4f4f\u307e\u3044\u306e\u81ea\u6cbb\u4f53\u3084\u767a\u9054\u969c\u5bb3\u8005\u652f\u63f4\u30bb\u30f3\u30bf\u30fc\u306b\u76f8\u8ac7\u3057\u3066\u304f\u3060\u3055\u3044\u3002\"\n      }\n    }\n  ]\n}\n<\/script>\n\n\n<p style=\"font-size:0.85em;color:#777;\">\u53c2\u8003\u60c5\u5831:<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/10304\/8p231-duplication-syndrome\" target=\"_blank\" rel=\"noopener\">8p23.1 duplication syndrome\uff5cGARD(\u7c73\u56fd\u56fd\u7acb\u885b\u751f\u7814\u7a76\u6240 \u5e0c\u5c11\u75be\u60a3\u60c5\u5831\u30bb\u30f3\u30bf\u30fc)<\/a>\/<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/25520754\/\" target=\"_blank\" rel=\"noopener\">8p23.1\u91cd\u8907\u75c7\u5019\u7fa4\u306e\u8a73\u7d30\u306a\u75c7\u4f8b\u5831\u544a\u3068\u767a\u9054\u9045\u6ede\u30fb\u5fc3\u75be\u60a3\u306e\u983b\u5ea6\u306b\u95a2\u3059\u308b\u7814\u7a76(Weber\u3089\u30012014\u5e74)\uff5cPubMed(\u7c73\u56fd\u56fd\u7acb\u533b\u5b66\u56f3\u66f8\u9928)<\/a>\/<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC9985500\/\" target=\"_blank\" rel=\"noopener\">8p23.1\u91cd\u8907\u75c7\u5019\u7fa4\u306b\u304a\u3051\u308b\u80ce\u5150\u671f\u306e\u91cd\u75c7\u4f8b\u306b\u95a2\u3059\u308b\u75c7\u4f8b\u5831\u544a\uff5cPMC(\u7c73\u56fd\u56fd\u7acb\u533b\u5b66\u56f3\u66f8\u9928)<\/a>\/<a href=\"https:\/\/www.jsog.or.jp\/news\/pdf\/NIPT_kaiteishishin.pdf\" target=\"_blank\" rel=\"noopener\">\u6bcd\u4f53\u8840\u3092\u7528\u3044\u305f\u51fa\u751f\u524d\u907a\u4f1d\u5b66\u7684\u691c\u67fb(NIPT)\u306b\u95a2\u3059\u308b\u6307\u91dd\uff5c\u65e5\u672c\u7523\u79d1\u5a66\u4eba\u79d1\u5b66\u4f1a<\/a>\/<a href=\"https:\/\/www.rehab.go.jp\/ddis\/\" target=\"_blank\" rel=\"noopener\">\u767a\u9054\u969c\u5bb3\u60c5\u5831\u30fb\u652f\u63f4\u30bb\u30f3\u30bf\u30fc\uff5c\u56fd\u7acb\u969c\u5bb3\u8005\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u30bb\u30f3\u30bf\u30fc<\/a><\/p>\n\n","protected":false},"excerpt":{"rendered":"8p23.1\u91cd\u8907\u75c7\u5019\u7fa4\u3068\u306f\u30018\u756a\u67d3\u8272\u4f53\u77ed\u8155\u306e\u91cd\u8907\u306b\u3088\u308b\u5e0c\u5c11\u67d3\u8272\u4f53\u75be\u60a3\u3067\u3059\u3002\u75c7\u72b6\u30fb\u539f\u56e0\u30fbNIPT\u3067\u306e\u691c\u51fa\u53ef\u80fd\u6027\u30fb\u8a3a\u65ad\u5f8c\u306e\u652f\u63f4\u3092\u3001\u5ca1\u535a\u53f2\u533b\u5e2b\u304c\u89e3\u8aac\u3057\u307e\u3059\u3002","protected":false},"author":122,"featured_media":121716,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[1392],"tags":[],"class_list":["post-121714","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\/121714","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=121714"}],"version-history":[{"count":2,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/121714\/revisions"}],"predecessor-version":[{"id":134285,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/121714\/revisions\/134285"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/121716"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=121714"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=121714"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=121714"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}