{"id":121624,"date":"2026-01-07T14:24:44","date_gmt":"2026-01-07T05:24:44","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=121624"},"modified":"2026-07-23T05:43:12","modified_gmt":"2026-07-22T20:43:12","slug":"chromosome-6q24-q25-deletion-syndrome-guide","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-6q24-q25-deletion-syndrome-guide\/","title":{"rendered":"6q24-q25\u6b20\u5931\u75c7\u5019\u7fa4"},"content":{"rendered":"\n<p><strong>\u304a\u5b50\u69d8\u304c\u300c6q24-q25\u6b20\u5931\u75c7\u5019\u7fa4\u300d\u3068\u3044\u3046\u8a3a\u65ad\u3092\u53d7\u3051\u3001\u982d\u306e\u4e2d\u304c\u771f\u3063\u767d\u306b\u306a\u3063\u3066\u3057\u307e\u3063\u305f\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\u306f6\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\u300c24\u300d\u304b\u3089\u300c25\u300d\u306e\u9818\u57df\u304c\u751f\u307e\u308c\u3064\u304d\u6b20\u3051\u3066\u3044\u308b\u3001\u4e16\u754c\u7684\u306b\u3082\u5831\u544a\u4f8b\u304c\u975e\u5e38\u306b\u5c11\u306a\u3044\u5e0c\u5c11\u306a\u67d3\u8272\u4f53\u75be\u60a3\u3067\u3059\u3002<\/strong>\u767a\u9054\u306e\u9045\u308c\u30fb\u7279\u5fb4\u7684\u306a\u9854\u7acb\u3061\u30fb\u96e3\u8074\u304c\u4e2d\u5fc3\u7684\u306a\u75c7\u72b6\u3068\u3057\u3066\u77e5\u3089\u308c\u3066\u304a\u308a\u30016q25\u9818\u57df\u306b\u306f\u300cARID1B\u300d\u3068\u3044\u3046\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u308b\u305f\u3081\u3001\u30b3\u30d5\u30a3\u30f3\u30fb\u30b7\u30ea\u30b9\u75c7\u5019\u7fa4\u3068\u4f3c\u305f\u7279\u5fb4\u3092\u4f34\u3046\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u75c7\u72b6\u306e\u7d44\u307f\u5408\u308f\u305b\u3084\u91cd\u3055\u306f\u3001\u6b20\u5931\u3057\u3066\u3044\u308b\u7bc4\u56f2\u306b\u3088\u3063\u3066\u4e00\u4eba\u3072\u3068\u308a\u5927\u304d\u304f\u7570\u306a\u308a\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\u30b3\u30d5\u30a3\u30f3\u30fb\u30b7\u30ea\u30b9\u75c7\u5019\u7fa4\u3068\u306e\u95a2\u4fc2\u3001\u4e3b\u306a\u75c7\u72b6\u3001\u907a\u4f1d\u5f62\u5f0f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u30fbNIPT\u3068\u306e\u95a2\u4fc2\u3001\u78ba\u5b9a\u8a3a\u65ad\u307e\u3067\u306e\u6d41\u308c\u3001\u6cbb\u7642\u3068\u7642\u80b2\u3001\u3054\u5bb6\u65cf\u3078\u306e\u652f\u63f4\u307e\u3067\u3092\u6574\u7406\u3057\u307e\u3059\u3002\u7c73\u56fd\u56fd\u7acb\u885b\u751f\u7814\u7a76\u6240\uff08NIH\uff09\u306eGARD\u3001OMIM\u3001\u6b27\u5dde\u306e\u5e0c\u5c11\u75be\u60a3\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9Orphanet\u3001\u533b\u5b66\u8ad6\u6587\u306a\u3069\u306e\u516c\u7684\u30fb\u5b66\u8853\u60c5\u5831\u306b\u3082\u3068\u3065\u3044\u3066\u304a\u4f1d\u3048\u3057\u307e\u3059\u3002\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>6q24-q25\u6b20\u5931\u75c7\u5019\u7fa4\u304c\u3069\u306e\u3088\u3046\u306a\u67d3\u8272\u4f53\u306e\u5909\u5316\u306a\u306e\u304b<\/li>\n<li>ARID1B\u907a\u4f1d\u5b50\u3092\u4ecb\u3057\u305f\u300c\u30b3\u30d5\u30a3\u30f3\u30fb\u30b7\u30ea\u30b9\u75c7\u5019\u7fa4\u300d\u3068\u306e\u95a2\u4fc2<\/li>\n<li>\u767a\u9054\u30fb\u9854\u7acb\u3061\u30fb\u624b\u8db3\u30fb\u8074\u899a\u3092\u4e2d\u5fc3\u3068\u3057\u305f\u4e3b\u306a\u75c7\u72b6<\/li>\n<li>\u907a\u4f1d\u5f62\u5f0f\uff08\u30c7\u30ce\u30dc\u3068\u5bb6\u65cf\u5185\u4f1d\u9054\uff09\u3068\u6b21\u306e\u304a\u5b50\u3055\u307e\u3078\u306e\u5f71\u97ff\u306e\u8003\u3048\u65b9<\/li>\n<li><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u30fbNIPT\u3067\u3053\u306e\u75c5\u6c17\u304c\u5bfe\u8c61\u306b\u306a\u308b\u304b\u306a\u3089\u306a\u3044\u304b<\/li>\n<li>\u8a3a\u65ad\u5f8c\u306e\u6cbb\u7642\u65b9\u91dd\u3068\u3054\u5bb6\u65cf\u3078\u306e\u652f\u63f4\u306e\u9078\u629e\u80a2<\/li>\n<\/ul>\n<\/div>\n\n\n\n\n\n\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_86 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">\u76ee\u6b21<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 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\/chromosome-6q24-q25-deletion-syndrome-guide\/#1_6q24-q25%E6%AC%A0%E5%A4%B1%E7%97%87%E5%80%99%E7%BE%A4%E3%81%A8%E3%81%AF%EF%BC%88%E5%8E%9F%E5%9B%A0%E3%81%A8%E3%81%AA%E3%82%8B%E6%9F%93%E8%89%B2%E4%BD%93%E3%81%AE%E5%A4%89%E5%8C%96%EF%BC%89\" >1. 6q24-q25\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u306f\uff08\u539f\u56e0\u3068\u306a\u308b\u67d3\u8272\u4f53\u306e\u5909\u5316\uff09<\/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\/chromosome-6q24-q25-deletion-syndrome-guide\/#%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%E8%AA%AD%E3%81%BF%E8%A7%A3%E3%81%8F\" >\u67d3\u8272\u4f53\u306e\u300c\u4f4f\u6240\u300d\u3092\u8aad\u307f\u89e3\u304f<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-6q24-q25-deletion-syndrome-guide\/#2_%E3%82%B3%E3%83%95%E3%82%A3%E3%83%B3%E3%83%BB%E3%82%B7%E3%83%AA%E3%82%B9%E7%97%87%E5%80%99%E7%BE%A4%E3%81%A8%E3%81%AE%E9%96%A2%E9%80%A3%EF%BC%88ARID1B%E9%81%BA%E4%BC%9D%E5%AD%90%EF%BC%89\" >2. \u30b3\u30d5\u30a3\u30f3\u30fb\u30b7\u30ea\u30b9\u75c7\u5019\u7fa4\u3068\u306e\u95a2\u9023\uff08ARID1B\u907a\u4f1d\u5b50\uff09<\/a><\/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\/chromosome-6q24-q25-deletion-syndrome-guide\/#3_%E4%B8%BB%E3%81%AA%E7%97%87%E7%8A%B6\" >3. \u4e3b\u306a\u75c7\u72b6<\/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\/chromosome-6q24-q25-deletion-syndrome-guide\/#%E9%A1%94%E7%AB%8B%E3%81%A1%E3%81%A8%E8%BA%AB%E4%BD%93%E7%9A%84%E7%89%B9%E5%BE%B4\" >\u9854\u7acb\u3061\u3068\u8eab\u4f53\u7684\u7279\u5fb4<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-6q24-q25-deletion-syndrome-guide\/#%E7%A5%9E%E7%B5%8C%E5%AD%A6%E7%9A%84%E3%81%AA%E7%97%87%E7%8A%B6\" >\u795e\u7d4c\u5b66\u7684\u306a\u75c7\u72b6<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-6q24-q25-deletion-syndrome-guide\/#4_%E5%8E%9F%E5%9B%A0%E3%81%A8%E9%81%BA%E4%BC%9D%E5%BD%A2%E5%BC%8F%EF%BC%88%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%EF%BC%89\" >4. \u539f\u56e0\u3068\u907a\u4f1d\u5f62\u5f0f\uff08\u30c7\u30ce\u30dc\u3068\u5bb6\u65cf\u5185\u4f1d\u9054\uff09<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-6q24-q25-deletion-syndrome-guide\/#%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-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-6q24-q25-deletion-syndrome-guide\/#%E8%A6%AA%E3%81%AE%E5%9D%87%E8%A1%A1%E5%9E%8B%E8%BB%A2%E5%BA%A7%EF%BC%88%E3%81%BE%E3%82%8C%E3%81%AA%E3%82%B1%E3%83%BC%E3%82%B9%EF%BC%89\" >\u89aa\u306e\u5747\u8861\u578b\u8ee2\u5ea7\uff08\u307e\u308c\u306a\u30b1\u30fc\u30b9\uff09<\/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-6q24-q25-deletion-syndrome-guide\/#5_%E5%87%BA%E7%94%9F%E5%89%8D%E8%A8%BA%E6%96%AD%E3%83%BBNIPT%E3%81%A8%E3%81%AE%E9%96%A2%E4%BF%82\" >5. \u51fa\u751f\u524d\u8a3a\u65ad\u30fbNIPT\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-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-6q24-q25-deletion-syndrome-guide\/#6_%E8%A8%BA%E6%96%AD%E3%81%8C%E7%A2%BA%E5%AE%9A%E3%81%99%E3%82%8B%E3%81%BE%E3%81%A7%E3%81%AE%E6%B5%81%E3%82%8C\" >6. \u8a3a\u65ad\u304c\u78ba\u5b9a\u3059\u308b\u307e\u3067\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\/chromosome-6q24-q25-deletion-syndrome-guide\/#%E6%9F%93%E8%89%B2%E4%BD%93%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\" >\u67d3\u8272\u4f53\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\/chromosome-6q24-q25-deletion-syndrome-guide\/#%E7%94%BB%E5%83%8F%E6%A4%9C%E6%9F%BB%E3%81%A8%E4%B8%A1%E8%A6%AA%E3%81%AE%E6%A4%9C%E6%9F%BB\" >\u753b\u50cf\u691c\u67fb\u3068\u4e21\u89aa\u306e\u691c\u67fb<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-6q24-q25-deletion-syndrome-guide\/#7_%E6%B2%BB%E7%99%82%E3%81%A8%E7%AE%A1%E7%90%86%EF%BC%9A%E3%81%93%E3%82%8C%E3%81%8B%E3%82%89%E3%81%AE%E3%83%AD%E3%83%BC%E3%83%89%E3%83%9E%E3%83%83%E3%83%97\" >7. \u6cbb\u7642\u3068\u7ba1\u7406\uff1a\u3053\u308c\u304b\u3089\u306e\u30ed\u30fc\u30c9\u30de\u30c3\u30d7<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-15\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-6q24-q25-deletion-syndrome-guide\/#%E6%97%A9%E6%9C%9F%E7%99%82%E8%82%B2%EF%BC%88%E3%83%8F%E3%83%93%E3%83%AA%E3%83%86%E3%83%BC%E3%82%B7%E3%83%A7%E3%83%B3%EF%BC%89\" >\u65e9\u671f\u7642\u80b2\uff08\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-6q24-q25-deletion-syndrome-guide\/#%E5%8C%BB%E7%99%82%E7%9A%84%E3%82%B1%E3%82%A2%E3%81%A8%E5%AE%9A%E6%9C%9F%E6%A4%9C%E8%A8%BA\" >\u533b\u7642\u7684\u30b1\u30a2\u3068\u5b9a\u671f\u691c\u8a3a<\/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-6q24-q25-deletion-syndrome-guide\/#%E6%95%99%E8%82%B2%E3%83%BB%E7%94%9F%E6%B4%BB%E7%92%B0%E5%A2%83%E3%81%AE%E8%AA%BF%E6%95%B4\" >\u6559\u80b2\u30fb\u751f\u6d3b\u74b0\u5883\u306e\u8abf\u6574<\/a><\/li><\/ul><\/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\/chromosome-6q24-q25-deletion-syndrome-guide\/#8_%E4%BA%88%E5%BE%8C%E3%81%A8%E8%A6%8B%E9%80%9A%E3%81%97\" >8. \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-19\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-6q24-q25-deletion-syndrome-guide\/#9_%E6%97%A5%E3%80%85%E3%81%AE%E7%94%9F%E6%B4%BB%E3%81%A7%E3%81%AE%E5%B7%A5%E5%A4%AB%E3%81%A8%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\" >9. \u65e5\u3005\u306e\u751f\u6d3b\u3067\u306e\u5de5\u592b\u3068\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-20\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-6q24-q25-deletion-syndrome-guide\/#%E3%82%88%E3%81%8F%E3%81%82%E3%82%8B%E8%B3%AA%E5%95%8F\" >\u3088\u304f\u3042\u308b\u8cea\u554f<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-21\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-6q24-q25-deletion-syndrome-guide\/#6q24-q25%E6%AC%A0%E5%A4%B1%E7%97%87%E5%80%99%E7%BE%A4%E3%81%A8%E3%82%B3%E3%83%95%E3%82%A3%E3%83%B3%E3%83%BB%E3%82%B7%E3%83%AA%E3%82%B9%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\" >6q24-q25\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u30b3\u30d5\u30a3\u30f3\u30fb\u30b7\u30ea\u30b9\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-22\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-6q24-q25-deletion-syndrome-guide\/#%E9%9B%A3%E8%81%B4%E3%81%AF%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%E3%81%BF%E3%82%89%E3%82%8C%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >\u96e3\u8074\u306f\u3069\u306e\u304f\u3089\u3044\u306e\u983b\u5ea6\u3067\u307f\u3089\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-23\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-6q24-q25-deletion-syndrome-guide\/#6q24-q25%E9%A0%98%E5%9F%9F%E3%81%AE%E6%AC%A0%E5%A4%B1%E3%81%AFNIPT%E3%81%A7%E3%82%8F%E3%81%8B%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >6q24-q25\u9818\u57df\u306e\u6b20\u5931\u306fNIPT\u3067\u308f\u304b\u308a\u307e\u3059\u304b\u3002<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-24\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-6q24-q25-deletion-syndrome-guide\/#%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-25\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-6q24-q25-deletion-syndrome-guide\/#%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-26\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-6q24-q25-deletion-syndrome-guide\/#%E7%97%87%E7%8A%B6%E3%81%AE%E9%87%8D%E3%81%95%E3%81%AF%E6%AC%A0%E5%A4%B1%E3%81%AE%E7%AF%84%E5%9B%B2%E3%81%AB%E3%82%88%E3%81%A3%E3%81%A6%E5%A4%89%E3%82%8F%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >\u75c7\u72b6\u306e\u91cd\u3055\u306f\u6b20\u5931\u306e\u7bc4\u56f2\u306b\u3088\u3063\u3066\u5909\u308f\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_6q24-q25%E6%AC%A0%E5%A4%B1%E7%97%87%E5%80%99%E7%BE%A4%E3%81%A8%E3%81%AF%EF%BC%88%E5%8E%9F%E5%9B%A0%E3%81%A8%E3%81%AA%E3%82%8B%E6%9F%93%E8%89%B2%E4%BD%93%E3%81%AE%E5%A4%89%E5%8C%96%EF%BC%89\"><\/span><strong>1. 6q24-q25\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u306f\uff08\u539f\u56e0\u3068\u306a\u308b\u67d3\u8272\u4f53\u306e\u5909\u5316\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u3053\u306e\u75c5\u6c17\u306f\u30016\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\uff08q\uff09\u306b\u3042\u308b\u300c24\u300d\u304b\u3089\u300c25\u300d\u306e\u30d0\u30f3\u30c9\u9818\u57df\u304c\u3001\u751f\u307e\u308c\u3064\u304d\u6b20\u3051\u3066\u3044\u308b\u72b6\u614b\u3067\u3059\u3002<\/strong>\u7c73\u56fd\u56fd\u7acb\u885b\u751f\u7814\u7a76\u6240\uff08NIH\uff09\u304c\u904b\u55b6\u3059\u308b\u5e0c\u5c11\u75be\u60a3\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/3764\/chromosome-6q24-q25-deletion-syndrome\" target=\"_blank\" rel=\"noopener\">GARD\uff08Genetic and Rare Diseases Information Center\uff09<\/a>\u3067\u306f\u3001\u767a\u9054\u306e\u9045\u308c\u30fb\u7279\u5fb4\u7684\u306a\u9854\u7acb\u3061\u30fb\u96e3\u8074\u3092\u4e2d\u5fc3\u75c7\u72b6\u3068\u3059\u308b\u75be\u60a3\u3068\u3057\u3066\u7d39\u4ecb\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u533b\u5b66\u6587\u732e\u3067\u306f\u300c6q25\u5fae\u7d30\u6b20\u5931\u75c7\u5019\u7fa4\u300d\u3068\u3082\u547c\u3070\u308c\u30012012\u5e74\u306b4\u4f8b\u306e\u60a3\u8005\u3055\u3093\u306e\u5206\u6790\u304b\u3089\u75c7\u5019\u7fa4\u3068\u3057\u3066\u521d\u3081\u3066\u4f53\u7cfb\u7684\u306b\u7279\u5fb4\u3065\u3051\u3089\u308c\u3066\u4ee5\u964d\u3082\u3001\u5831\u544a\u4f8b\u306f\u304d\u308f\u3081\u3066\u9650\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>4\u4f8b\u306e\u60a3\u8005\u3055\u3093\u3092\u8a73\u3057\u304f\u5206\u6790\u3057\u305f<a href=\"https:\/\/www.nature.com\/articles\/ejhg2008220\" target=\"_blank\" rel=\"noopener\">\u5b66\u8853\u8ad6\u6587\uff08European Journal of Human Genetics\u30012009\u5e74\uff09<\/a>\u3067\u306f\u3001\u5168\u54e1\u306b\u5171\u901a\u3059\u308b\u91cd\u8907\u9818\u57df\uff08\u6700\u5c0f\u5171\u901a\u6b20\u5931\u9818\u57df\uff09\u306f\u304a\u3088\u305d3.52Mb\uff086q25.2-q25.3\u4ed8\u8fd1\uff09\u3068\u3055\u308c\u3001\u5b9f\u969b\u306e\u6b20\u5931\u30b5\u30a4\u30ba\u306f3.77Mb\u304b\u308913.81Mb\u307e\u3067\u75c7\u4f8b\u3054\u3068\u306b\u5e45\u304c\u3042\u308a\u307e\u3057\u305f\u3002\u305d\u306e\u5f8c\u306e\u5831\u544a\u3067\u306f\u3055\u3089\u306b\u5e83\u3044\u7bc4\u56f2\u3001\u307e\u308c\u306b20Mb\u3092\u8d85\u3048\u308b\u6b20\u5931\u3082\u898b\u3089\u308c\u307e\u3059\u3002\u6b20\u5931\u304c\u5927\u304d\u304f\u306a\u308b\u307b\u3069\u3001\u542b\u307e\u308c\u308b\u907a\u4f1d\u5b50\u306e\u6570\u3082\u5897\u3048\u3001\u75c7\u72b6\u304c\u91cd\u304f\u306a\u308b\u50be\u5411\u304c\u3042\u308a\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%E8%AA%AD%E3%81%BF%E8%A7%A3%E3%81%8F\"><\/span><strong>\u67d3\u8272\u4f53\u306e\u300c\u4f4f\u6240\u300d\u3092\u8aad\u307f\u89e3\u304f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u75c5\u540d\u306e\u300c6q24-q25\u300d\u306f\u3001\u67d3\u8272\u4f53\u306e\u3069\u306e\u5834\u6240\u304c\u5909\u5316\u3057\u3066\u3044\u308b\u304b\u3092\u8868\u3059\u300c\u4f4f\u6240\u300d\u3067\u3059\u3002\u30d2\u30c8\u306e\u67d3\u8272\u4f53\u306f\u5927\u304d\u3044\u9806\u306b22\u5bfe\u306e\u5e38\u67d3\u8272\u4f53\u3068\u6027\u67d3\u8272\u4f53\u306b\u756a\u53f7\u304c\u3064\u3044\u3066\u304a\u308a\u3001\u305d\u306e6\u756a\u76ee\u304c\u821e\u53f0\u306b\u306a\u308a\u307e\u3059\u3002\u67d3\u8272\u4f53\u306e\u304f\u3073\u308c\uff08\u52d5\u539f\u4f53\uff09\u304b\u3089\u9577\u3044\u65b9\u306e\u8155\u3092\u300c\u9577\u8155\uff08q\uff09\u300d\u3001\u305d\u306e\u4e2d\u306e\u533a\u753b\u756a\u53f7\u304c\u300c24\u300d\u304b\u3089\u300c25\u300d\u3068\u3044\u3046\u308f\u3051\u3067\u3059\u3002\u67d3\u8272\u4f53\u3092\u4f53\u306e\u300c\u8a2d\u8a08\u56f3\u300d\u306b\u4f8b\u3048\u308b\u306a\u3089\u3001\u5206\u539a\u3044\u8a2d\u8a08\u56f3\u306e6\u5dfb\u76ee\u306e\u7279\u5b9a\u306e\u30da\u30fc\u30b8\u304c\u3001\u6570\u30da\u30fc\u30b8\u5206\u307e\u3068\u3081\u3066\u629c\u3051\u843d\u3061\u3066\u3044\u308b\u72b6\u614b\u3068\u3044\u3048\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5931\u308f\u308c\u305f\u30da\u30fc\u30b8\uff08\u9818\u57df\uff09\u306b\u306f\u3001\u8133\u306e\u767a\u9054\u30fb\u9aa8\u683c\u306e\u5f62\u6210\u30fb\u8074\u899a\u306a\u3069\u306b\u95a2\u308f\u308b\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u307e\u3059\u3002\u305d\u306e\u305f\u3081\u8a2d\u8a08\u56f3\u306e\u6307\u793a\u304c\u4e00\u90e8\u8aad\u307f\u53d6\u308c\u306a\u304f\u306a\u308a\u3001\u767a\u9054\u306e\u9045\u308c\u3084\u8eab\u4f53\u7684\u306a\u7279\u5fb4\u306a\u3069\u3001\u3055\u307e\u3056\u307e\u306a\u75c7\u72b6\u304c\u73fe\u308c\u307e\u3059\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E3%82%B3%E3%83%95%E3%82%A3%E3%83%B3%E3%83%BB%E3%82%B7%E3%83%AA%E3%82%B9%E7%97%87%E5%80%99%E7%BE%A4%E3%81%A8%E3%81%AE%E9%96%A2%E9%80%A3%EF%BC%88ARID1B%E9%81%BA%E4%BC%9D%E5%AD%90%EF%BC%89\"><\/span><strong>2. \u30b3\u30d5\u30a3\u30f3\u30fb\u30b7\u30ea\u30b9\u75c7\u5019\u7fa4\u3068\u306e\u95a2\u9023\uff08ARID1B\u907a\u4f1d\u5b50\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>6q25.3\u3068\u3044\u3046\u9818\u57df\u306b\u306f\u300cARID1B\u300d\u3068\u3044\u3046\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u304a\u308a\u3001\u6b20\u5931\u306b\u3053\u306e\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u308b\u5834\u5408\u3001\u30b3\u30d5\u30a3\u30f3\u30fb\u30b7\u30ea\u30b9\u75c7\u5019\u7fa4\u3068\u4f3c\u305f\u7279\u5fb4\u304c\u73fe\u308c\u308b\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/strong>\u30b3\u30d5\u30a3\u30f3\u30fb\u30b7\u30ea\u30b9\u75c7\u5019\u7fa4\u306f\u3001\u77e5\u7684\u767a\u9054\u306e\u9045\u308c\u306b\u52a0\u3048\u3001\u7c97\u3044\u9854\u7acb\u3061\u30fb\u591a\u6bdb\u30fb\u7b2c5\u6307\uff08\u5c0f\u6307\uff09\u306e\u722a\u306e\u4f4e\u5f62\u6210\u3084\u7121\u5f62\u6210\u3092\u7279\u5fb4\u3068\u3059\u308b\u75be\u60a3\u3067\u30012012\u5e74\u306bARID1B\u907a\u4f1d\u5b50\u306e\u7570\u5e38\u304c\u4e3b\u306a\u539f\u56e0\u306e\u4e00\u3064\u3067\u3042\u308b\u3068\u5831\u544a\u3055\u308c\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<p><a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/26754677\/\" target=\"_blank\" rel=\"noopener\">2016\u5e74\u306b\u767a\u8868\u3055\u308c\u305f\u75c7\u4f8b\u5831\u544a<\/a>\u3067\u306f\u30016q25.3\u9818\u57df\u306e\u3046\u3061ARID1B\u907a\u4f1d\u5b50\u3060\u3051\u3092\u542b\u3080\u304a\u3088\u305d1.1Mb\u3068\u3044\u3046\u5c0f\u3055\u306a\u6b20\u5931\u3067\u3082\u3001\u30b3\u30d5\u30a3\u30f3\u30fb\u30b7\u30ea\u30b9\u75c7\u5019\u7fa4\u306b\u5178\u578b\u7684\u306a\u75c7\u72b6\u304c\u73fe\u308c\u305f\u30b1\u30fc\u30b9\u304c\u793a\u3055\u308c\u3001\u8457\u8005\u3089\u306f\u300cARID1B\u3053\u305d\u304c6q\u5fae\u7d30\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u9375\u3068\u306a\u308b\u907a\u4f1d\u5b50\u300d\u3068\u7d50\u8ad6\u3065\u3051\u3066\u3044\u307e\u3059\u3002\u7b2c5\u6307\u306e\u722a\u306e\u4f4e\u5f62\u6210\u30fb\u7121\u5f62\u6210\u306f\u30016q\u6b20\u5931\u3068\u30b3\u30d5\u30a3\u30f3\u30fb\u30b7\u30ea\u30b9\u75c7\u5019\u7fa4\u306e\u95a2\u9023\u3092\u8abf\u3079\u305f<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC12652033\/\" target=\"_blank\" rel=\"noopener\">\u5225\u306e\u75c7\u4f8b\u5831\u544a<\/a>\u3067\u7d047\u5272\u306e\u60a3\u8005\u3055\u3093\u306b\u898b\u3089\u308c\u305f\u3068\u3055\u308c\u3001\u8a3a\u65ad\u306e\u624b\u304c\u304b\u308a\u3068\u3057\u3066\u91cd\u8996\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>ARID1B\u907a\u4f1d\u5b50\u306e\u5909\u5316\u3092\u4e3b\u306a\u539f\u56e0\u3068\u3059\u308b\u75be\u60a3\u305d\u306e\u3082\u306e\u306b\u3064\u3044\u3066\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/coffin-siris-syndrome-arid1b-genetics-diagnosis-management\/\">\u30b3\u30d5\u30a3\u30f3\u30fb\u30b7\u30ea\u30b9\u75c7\u5019\u7fa4\uff08ARID1B\u907a\u4f1d\u5b50\uff09\u306e\u89e3\u8aac\u8a18\u4e8b<\/a>\u3067\u8a73\u3057\u304f\u6574\u7406\u3057\u3066\u3044\u307e\u3059\u3002\u533b\u5e2b\u304b\u3089\u3053\u306e\u75c5\u540d\u3092\u805e\u304f\u3053\u3068\u304c\u3042\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u304c\u3001\u3053\u308c\u306f6q24-q25\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u75c7\u72b6\u306e\u4e00\u90e8\u3068\u3057\u3066\u8aac\u660e\u3055\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3001\u3068\u3044\u3046\u7406\u89e3\u3067\u69cb\u3044\u307e\u305b\u3093\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E4%B8%BB%E3%81%AA%E7%97%87%E7%8A%B6\"><\/span><strong>3. \u4e3b\u306a\u75c7\u72b6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>GARD\u3067\u306f\u300c\u767a\u9054\u306e\u9045\u308c\u300d\u300c\u7279\u5fb4\u7684\u306a\u9854\u7acb\u3061\u300d\u300c\u96e3\u8074\u300d\u306e3\u3064\u304c\u4e2d\u5fc3\u75c7\u72b6\u3068\u3057\u3066\u6574\u7406\u3055\u308c\u3066\u304a\u308a\u3001\u305d\u306e\u307b\u304b\u306e\u75c7\u72b6\u306f\u500b\u4eba\u5dee\u304c\u975e\u5e38\u306b\u5927\u304d\u3044\u306e\u304c\u7279\u5fb4\u3067\u3059\u3002<\/strong>\u300c\u3059\u3079\u3066\u306e\u5b50\u306b\u3059\u3079\u3066\u306e\u75c7\u72b6\u304c\u51fa\u308b\u300d\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u3053\u3053\u3067\u306f\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u7279\u5fb4\u3092\u6574\u7406\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<figure class=\"wp-table-block\"><table><thead><tr><th>\u75c7\u72b6\u30fb\u7279\u5fb4<\/th><th>\u5831\u544a\u306e\u72b6\u6cc1<\/th><\/tr><\/thead><tbody><tr><td>\u767a\u9054\u306e\u9045\u308c\uff08\u7cbe\u795e\u904b\u52d5\u767a\u9054\u9045\u6ede\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\uff09<\/td><td>\u4e2d\u5fc3\u7684\u306a\u75c7\u72b6\u3002\u8a00\u8449\u306e\u9045\u308c\u304c\u76ee\u7acb\u3064\u3053\u3068\u304c\u591a\u3044<\/td><\/tr><tr><td>\u7279\u5fb4\u7684\u306a\u9854\u7acb\u3061\uff08\u5c0f\u982d\u75c7\u30fb\u773c\u88c2\u4e0b\u5782\u30fb\u773c\u9593\u958b\u96e2\u30fb\u5c0f\u3055\u3044\u3042\u3054\u7b49\uff09<\/td><td>\u4e2d\u5fc3\u7684\u306a\u75c7\u72b6\u3068\u3057\u3066\u5831\u544a<\/td><\/tr><tr><td>\u96e3\u8074<\/td><td>\u4e2d\u5fc3\u75c7\u72b6\u306e\u4e00\u3064\u3002\u4f1d\u97f3\u6027\u30fb\u611f\u97f3\u6027\u306e\u3044\u305a\u308c\u3082\u3042\u308a\u3046\u308b<\/td><\/tr><tr><td>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u30fb\u3051\u3044\u308c\u3093\u30fb\u8133\u5ba4\u62e1\u5927<\/td><td>\u795e\u7d4c\u5b66\u7684\u75c7\u72b6\u3068\u3057\u3066\u5831\u544a<\/td><\/tr><tr><td>\u624b\u8db3\u306e\u7279\u5fb4\uff08\u6307\u304c\u66f2\u304c\u308b\u30fb\u8db3\u5e95\u306e\u7a81\u51fa\u7b49\uff09\u3001\u53e3\u84cb\u88c2<\/td><td>\u9aa8\u683c\u30fb\u5f62\u614b\u306e\u7279\u5fb4\u3068\u3057\u3066\u5831\u544a<\/td><\/tr><tr><td>\u767a\u80b2\u4e0d\u5168\u30fb\u4f4e\u8eab\u9577<\/td><td>\u80ce\u5150\u671f\u304b\u3089\u306e\u767a\u80b2\u306e\u9045\u308c\u3068\u3057\u3066\u5831\u544a<\/td><\/tr><tr><td>\u5fc3\u75be\u60a3\u30fb\u6ccc\u5c3f\u751f\u6b96\u5668\u306e\u7570\u5e38<\/td><td>\u5408\u4f75\u75c7\u3068\u3057\u3066\u5831\u544a<\/td><\/tr><tr><td>\u5c0f\u6307\u306e\u722a\u3084\u672b\u7bc0\u9aa8\u306e\u4f4e\u5f62\u6210\u30fb\u7121\u5f62\u6210\u3001\u591a\u6bdb\uff08ARID1B\u9818\u57df\u3092\u542b\u3080\u5834\u5408\uff09<\/td><td>\u30b3\u30d5\u30a3\u30f3\u30fb\u30b7\u30ea\u30b9\u69d8\u306e\u7279\u5fb4\u3068\u3057\u3066\u5831\u544a<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%A1%94%E7%AB%8B%E3%81%A1%E3%81%A8%E8%BA%AB%E4%BD%93%E7%9A%84%E7%89%B9%E5%BE%B4\"><\/span><strong>\u9854\u7acb\u3061\u3068\u8eab\u4f53\u7684\u7279\u5fb4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8a3a\u65ad\u306e\u624b\u304c\u304b\u308a\u306b\u306a\u308a\u3084\u3059\u3044\u7279\u5fb4\u3067\u3059\u3002\u982d\u304c\u5c0f\u3055\u3081\uff08\u5c0f\u982d\u75c7\uff09\u3001\u9f3b\u306e\u4ed8\u3051\u6839\u304c\u5e73\u5766\u3001\u53e3\u304c\u5927\u304d\u3044\u3001\u307e\u305f\u306f\u5507\u304c\u8584\u3044\u3001\u8033\u306e\u4f4d\u7f6e\u304c\u4f4e\u3044\u3068\u3044\u3063\u305f\u9854\u7acb\u3061\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u3089\u306f\u6210\u9577\u3068\u3068\u3082\u306b\u5909\u5316\u3057\u3001\u6b21\u7b2c\u306b\u76ee\u7acb\u305f\u306a\u304f\u306a\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%A5%9E%E7%B5%8C%E5%AD%A6%E7%9A%84%E3%81%AA%E7%97%87%E7%8A%B6\"><\/span><strong>\u795e\u7d4c\u5b66\u7684\u306a\u75c7\u72b6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08\u30cf\u30a4\u30dd\u30c8\u30cb\u30a2\uff09\uff1a\u8d64\u3061\u3083\u3093\u306e\u9803\u300c\u4f53\u304c\u67d4\u3089\u304b\u3044\u300d\u3068\u611f\u3058\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u54fa\u4e73\u529b\u306e\u5f31\u3055\u3084\u904b\u52d5\u767a\u9054\u306e\u9045\u308c\u306b\u3064\u306a\u304c\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3051\u3044\u308c\u3093\u30fb\u3066\u3093\u304b\u3093\uff1a\u4e00\u90e8\u306e\u304a\u5b50\u69d8\u3067\u8d77\u3053\u308a\u307e\u3059\u304c\u3001\u591a\u304f\u306f\u85ac\u3067\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u53ef\u80fd\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u8133\u6881\uff08\u306e\u3046\u308a\u3087\u3046\uff09\u306e\u5f62\u6210\u4e0d\u5168\uff1a\u8133\u306e\u5de6\u53f3\u3092\u3064\u306a\u3050\u90e8\u5206\u304c\u8584\u3044\u3001\u307e\u305f\u306f\u672a\u5f62\u6210\u3067\u3042\u308b\u3053\u3068\u304cMRI\u691c\u67fb\u3067\u308f\u304b\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u767a\u9054\u306e\u9045\u308c\u306e\u7a0b\u5ea6\u306f\u6b20\u5931\u306e\u7bc4\u56f2\u306b\u3088\u3063\u3066\u5dee\u304c\u3042\u308a\u307e\u3059\u3002\u77e5\u7684\u306a\u767a\u9054\u306e\u898b\u901a\u3057\u306b\u3064\u3044\u3066\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-beyond-down-syndrome-intellectual-disability\/\">NIPT\u3068\u77e5\u7684\u969c\u5bb3\u306e\u9650\u754c\u306b\u3064\u3044\u3066\u306e\u8a18\u4e8b<\/a>\u3082\u3042\u308f\u305b\u3066\u3054\u78ba\u8a8d\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E5%8E%9F%E5%9B%A0%E3%81%A8%E9%81%BA%E4%BC%9D%E5%BD%A2%E5%BC%8F%EF%BC%88%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%EF%BC%89\"><\/span><strong>4. \u539f\u56e0\u3068\u907a\u4f1d\u5f62\u5f0f\uff08\u30c7\u30ce\u30dc\u3068\u5bb6\u65cf\u5185\u4f1d\u9054\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u5927\u591a\u6570\u306f\u5076\u767a\u7684\u306a\u7a81\u7136\u5909\u7570\uff08\u30c7\u30ce\u30dc\uff09\u3067\u751f\u3058\u307e\u3059\u304c\u3001\u907a\u4f1d\u5f62\u5f0f\u3068\u3057\u3066\u306f\u5e38\u67d3\u8272\u4f53\u9855\u6027\u907a\u4f1d\u306b\u5206\u985e\u3055\u308c\u3001\u307e\u308c\u306b\u5bb6\u65cf\u5185\u3067\u4f1d\u308f\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/strong>\u3054\u5bb6\u65cf\u304c\u6700\u3082\u5fc3\u3092\u75db\u3081\u308b\u90e8\u5206\u3067\u3059\u304c\u3001\u300c\u3054\u4e21\u89aa\u306e\u80b2\u3066\u65b9\u3084\u3001\u598a\u5a20\u4e2d\u306e\u904e\u3054\u3057\u65b9\u304c\u539f\u56e0\u3067\u306f\u306a\u3044\u300d\u3068\u3044\u3046\u3053\u3068\u3092\u3001\u307e\u305a\u304a\u4f1d\u3048\u3057\u305f\u3044\u3068\u601d\u3044\u307e\u3059\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\u3001\u3042\u308b\u3044\u306f\u53d7\u7cbe\u5f8c\u306e\u975e\u5e38\u306b\u65e9\u3044\u6bb5\u968e\u3067\u3001\u5076\u7136\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u5207\u308c\u3066\u306a\u304f\u306a\u3063\u3066\u3057\u307e\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u306f\u8ab0\u306b\u3067\u3082\u8d77\u3053\u308a\u3046\u308b\u81ea\u7136\u306a\u78ba\u7387\u7684\u73fe\u8c61\u3067\u3042\u308a\u3001\u9632\u3050\u3053\u3068\u306f\u3067\u304d\u307e\u305b\u3093\u3002<strong>\u598a\u5a20\u4e2d\u306e\u98df\u4e8b\u3084\u751f\u6d3b\u7fd2\u6163\u304c\u539f\u56e0\u3067\u8d77\u3053\u308b\u3082\u306e\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/strong>\u3054\u81ea\u8eab\u3092\u8cac\u3081\u308b\u5fc5\u8981\u306f\u4e00\u5207\u306a\u3044\u306e\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%A6%AA%E3%81%AE%E5%9D%87%E8%A1%A1%E5%9E%8B%E8%BB%A2%E5%BA%A7%EF%BC%88%E3%81%BE%E3%82%8C%E3%81%AA%E3%82%B1%E3%83%BC%E3%82%B9%EF%BC%89\"><\/span><strong>\u89aa\u306e\u5747\u8861\u578b\u8ee2\u5ea7\uff08\u307e\u308c\u306a\u30b1\u30fc\u30b9\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3054\u304f\u4e00\u90e8\u306e\u30b1\u30fc\u30b9\u3067\u306f\u3001\u3054\u4e21\u89aa\u306e\u3069\u3061\u3089\u304b\u304c\u300c\u5747\u8861\u578b\u8ee2\u5ea7\u300d\u3068\u3044\u3046\u67d3\u8272\u4f53\u306e\u30bf\u30a4\u30d7\u3092\u6301\u3063\u3066\u3044\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002\u67d3\u8272\u4f53\u306e\u5834\u6240\u304c\u5165\u308c\u66ff\u308f\u3063\u3066\u3044\u308b\u3060\u3051\u3067\u907a\u4f1d\u60c5\u5831\u306e\u904e\u4e0d\u8db3\u304c\u306a\u304f\u3001\u3054\u672c\u4eba\u306b\u306f\u5065\u5eb7\u4e0a\u306e\u554f\u984c\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u3057\u304b\u3057\u751f\u6b96\u7d30\u80de\uff08\u5375\u5b50\u3084\u7cbe\u5b50\uff09\u3092\u4f5c\u308b\u969b\u306b\u67d3\u8272\u4f53\u306e\u5206\u914d\u304c\u30a2\u30f3\u30d0\u30e9\u30f3\u30b9\u306b\u306a\u308a\u3001\u304a\u5b50\u69d8\u306b\u6b20\u5931\u304c\u751f\u3058\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u30c7\u30ce\u30dc\u3067\u3042\u308c\u3070\u6b21\u306e\u304a\u5b50\u3055\u307e\u3078\u306e\u518d\u767a\u30ea\u30b9\u30af\u306f\u4e00\u822c\u7684\u306b\u4f4e\u3044\u3068\u3055\u308c\u307e\u3059\u304c\u3001\u5747\u8861\u578b\u8ee2\u5ea7\u3084\u3001\u3054\u304f\u5c0f\u3055\u306a\u6b20\u5931\u3092\u3054\u4e21\u89aa\u306e\u3069\u3061\u3089\u304b\u304c\u8efd\u5ea6\u306b\u6301\u3063\u3066\u3044\u308b\u5834\u5408\u306f\u3001\u518d\u767a\u30ea\u30b9\u30af\u304c\u9ad8\u307e\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u6b21\u306e\u598a\u5a20\u3092\u8003\u3048\u3066\u3044\u308b\u5834\u5408\u306f\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u691c\u67fb\u3092\u78ba\u8a8d\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u79c1\u81ea\u8eab\u3001\u5916\u6765\u3067\u3053\u3046\u3057\u305f\u5e0c\u5c11\u306a\u67d3\u8272\u4f53\u75be\u60a3\u306e\u304a\u5b50\u3055\u307e\u3092\u6301\u3064\u3054\u5bb6\u65cf\u304b\u3089\u3001\u6b21\u5b50\u306b\u3064\u3044\u3066\u76f8\u8ac7\u3092\u53d7\u3051\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u3054\u4e21\u89aa\u306e\u691c\u67fb\u7d50\u679c\u304c\u308f\u304b\u308b\u3060\u3051\u3067\u3082\u3001\u6b21\u306e\u598a\u5a20\u306b\u5411\u3051\u305f\u898b\u901a\u3057\u3092\u7acb\u3066\u3084\u3059\u304f\u306a\u308b\u3068\u611f\u3058\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"5_%E5%87%BA%E7%94%9F%E5%89%8D%E8%A8%BA%E6%96%AD%E3%83%BBNIPT%E3%81%A8%E3%81%AE%E9%96%A2%E4%BF%82\"><\/span><strong>5. \u51fa\u751f\u524d\u8a3a\u65ad\u30fbNIPT\u3068\u306e\u95a2\u4fc2<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>6q24-q25\u9818\u57df\u306e\u6b20\u5931\u306f\u3001\u6a19\u6e96\u7684\u306aNIPT\u306e\u5bfe\u8c61\u306b\u306f\u542b\u307e\u308c\u305a\u3001<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\u5927\u691c\u67fb\u3067\u3082\u3001\u540d\u6307\u3057\u3067\u691c\u67fb\u5bfe\u8c61\u306b\u542b\u3080\u4f1a\u793e\u306f\u9650\u3089\u308c\u308b\u3054\u304f\u307e\u308c\u306a\u9818\u57df\u3067\u3059\u3002<\/strong><\/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<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\u5927\u30d7\u30e9\u30f3\u3082\u3042\u308a\u307e\u3059\u304c\u30016q24-q25\u9818\u57df\u306f\u5831\u544a\u4f8b\u305d\u306e\u3082\u306e\u304c\u975e\u5e38\u306b\u5c11\u306a\u3044\u5e0c\u5c11\u306a\u9818\u57df\u306e\u305f\u3081\u3001\u5bfe\u8c61\u306b\u542b\u3081\u308b\u304b\u3069\u3046\u304b\u306f\u691c\u67fb\u4f1a\u793e\u3084\u30d7\u30e9\u30f3\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u307e\u3059\u3002\u3054\u81ea\u8eab\u304c\u691c\u8a0e\u3057\u3066\u3044\u308b\u30d7\u30e9\u30f3\u306e\u691c\u67fb\u5bfe\u8c61\u7bc4\u56f2\u306f\u3001\u4e8b\u524d\u306b\u78ba\u8a8d\u3057\u3066\u304a\u304f\u3068\u5b89\u5fc3\u3067\u3059\u3002<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\u3042\u308f\u305b\u3066\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<p>\u306a\u304a\u3001\u5927\u304d\u3081\u306e\u6b20\u5931\u3092\u4f34\u3046\u91cd\u3044\u75c7\u4f8b\u3067\u306f\u3001<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC12652033\/\" target=\"_blank\" rel=\"noopener\">2025\u5e74\u306e\u75c7\u4f8b\u5831\u544a<\/a>\u306e\u3088\u3046\u306b\u3001\u598a\u5a20\u521d\u671f\u306e\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u300c\u5f8c\u9838\u90e8\u306e\u6d6e\u816b\uff08\u3080\u304f\u307f\uff09\u300d\u3084\u300c\u9f3b\u9aa8\u304c\u898b\u3048\u306b\u304f\u3044\u300d\u3068\u3044\u3063\u305f\u6240\u898b\u3092\u304d\u3063\u304b\u3051\u306b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosomal-abnormality\/\">\u67d3\u8272\u4f53\u7570\u5e38<\/a>\u304c\u7591\u308f\u308c\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u3067\u767a\u898b\u306b\u81f3\u3063\u305f\u30b1\u30fc\u30b9\u3082\u3042\u308a\u307e\u3059\u3002\u305f\u3060\u3057\u3053\u308c\u306f\u6b20\u5931\u7bc4\u56f2\u304c\u5e83\u3044\u4e00\u90e8\u306e\u91cd\u75c7\u4f8b\u306b\u898b\u3089\u308c\u308b\u6240\u898b\u3067\u3042\u308a\u3001\u5168\u3066\u306e6q24-q25\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u304a\u5b50\u3055\u307e\u306b\u5f53\u3066\u306f\u307e\u308b\u3082\u306e\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u79c1\u305f\u3061\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30afNIPT\u306b\u3082\u3001\u300c\u62e1\u5927\u691c\u67fb\u3067\u805e\u3044\u305f\u3053\u3068\u306e\u306a\u3044\u9818\u57df\u304c\u5019\u88dc\u306b\u6319\u304c\u3063\u305f\u3089\u3069\u3046\u3059\u308c\u3070\u3088\u3044\u304b\u300d\u3068\u3044\u3046\u3054\u76f8\u8ac7\u304c\u5bc4\u305b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u307e\u305a\u77e5\u3063\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<\/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\u3001NIPT\u306e\u7d50\u679c\u306f\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u691c\u67fb\u306e\u7bc4\u56f2\u306b\u3068\u3069\u307e\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u78ba\u5b9a\u8a3a\u65ad\u306b\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u306a\u3069\u306e\u4fb5\u8972\u7684\u306a\u691c\u67fb\u304c\u5fc5\u8981\u3067\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u306f\u5bfe\u8c61\u7bc4\u56f2\u304c\u5e83\u304f\u306a\u308b\u307b\u3069\u3001\u967d\u6027\u3067\u3042\u3063\u3066\u3082\u5b9f\u969b\u306b\u75be\u60a3\u3092\u6709\u3059\u308b\u5272\u5408\uff08\u967d\u6027\u7684\u4e2d\u7387\uff09\u304c\u4e0b\u304c\u308a\u3084\u3059\u3044\u50be\u5411\u3082\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>NIPT\u30676q\u9818\u57df\u3092\u542b\u3080<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u306e\u967d\u6027\u6240\u898b\u304c\u51fa\u305f\u5834\u5408\u3001\u307e\u305a\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u7d50\u679c\u306e\u610f\u5473\u3092\u78ba\u8a8d\u3057\u3001\u305d\u306e\u4e0a\u3067<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u306b\u3088\u308b\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\u3092\u53d7\u3051\u308b\u304b\u3069\u3046\u304b\u3092\u5224\u65ad\u3059\u308b\u3001\u3068\u3044\u3046\u6d41\u308c\u306b\u306a\u308a\u307e\u3059\u3002\u3042\u308f\u3066\u3066\u7d50\u8ad6\u3092\u51fa\u3055\u305a\u3001\u5c02\u9580\u5bb6\u3068\u4e00\u7dd2\u306b\u4e00\u3064\u305a\u3064\u6574\u7406\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"6_%E8%A8%BA%E6%96%AD%E3%81%8C%E7%A2%BA%E5%AE%9A%E3%81%99%E3%82%8B%E3%81%BE%E3%81%A7%E3%81%AE%E6%B5%81%E3%82%8C\"><\/span><strong>6. \u8a3a\u65ad\u304c\u78ba\u5b9a\u3059\u308b\u307e\u3067\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\u3068\u3044\u3046\u7cbe\u5bc6\u691c\u67fb\u304c\u4e2d\u5fc3\u7684\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u307e\u3059\u3002<\/strong>\u901a\u5e38\u306e\u767a\u9054\u5065\u8a3a\u3084\u7279\u5fb4\u7684\u306a\u75c7\u72b6\u304b\u3089\u533b\u5e2b\u304c\u7591\u3044\u3092\u6301\u3061\u3001\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u3092\u884c\u3046\u3053\u3068\u3067\u78ba\u5b9a\u8a3a\u65ad\u306b\u81f3\u308a\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%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>\u67d3\u8272\u4f53\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>\u5f93\u6765\u306e\u9855\u5fae\u93e1\u3067\u898b\u308b\u691c\u67fb\uff08G\u5206\u67d3\u6cd5\uff09\u3067\u306f\u3001\u5c0f\u3055\u306a\u6b20\u5931\u306f\u898b\u9003\u3055\u308c\u3066\u3057\u307e\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3057\u305f\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u691c\u67fb\u306fDNA\u30ec\u30d9\u30eb\u3067\u67d3\u8272\u4f53\u3092\u8abf\u3079\u308b\u305f\u3081\u3001\u300c6\u756a\u67d3\u8272\u4f53\u306e24\u756a\u30d0\u30f3\u30c9\u304b\u308925\u756a\u30d0\u30f3\u30c9\u307e\u3067\u304c\u6b20\u3051\u3066\u3044\u308b\u300d\u3068\u3044\u3063\u305f\u5fae\u7d30\u306a\u5909\u5316\u3092\u6b63\u78ba\u306b\u691c\u51fa\u3067\u304d\u307e\u3059\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u3068<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u691c\u67fb\u306e\u95a2\u4fc2\u306b\u3064\u3044\u3066\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u7f8a\u6c34\u691c\u67fb\u306b\u3088\u308b\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u691c\u67fb\u306e\u89e3\u8aac\u8a18\u4e8b<\/a>\u3067\u8a73\u3057\u304f\u6574\u7406\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%94%BB%E5%83%8F%E6%A4%9C%E6%9F%BB%E3%81%A8%E4%B8%A1%E8%A6%AA%E3%81%AE%E6%A4%9C%E6%9F%BB\"><\/span><strong>\u753b\u50cf\u691c\u67fb\u3068\u4e21\u89aa\u306e\u691c\u67fb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5408\u4f75\u75c7\u306e\u6709\u7121\u3092\u78ba\u8a8d\u3059\u308b\u305f\u3081\u3001\u982d\u90e8MRI\/CT\u3067\u8133\u306e\u69cb\u9020\u3092\u3001\u5fc3\u81d3\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u5fc3\u75be\u60a3\u306e\u6709\u7121\u3092\u3001\u8179\u90e8\u30a8\u30b3\u30fc\u3067\u814e\u81d3\u306a\u3069\u306e\u5185\u81d3\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002\u898b\u305f\u76ee\u3067\u306f\u5206\u304b\u308a\u306b\u304f\u3044\u8996\u529b\u3084\u8074\u529b\u306e\u554f\u984c\u3092\u65e9\u671f\u306b\u898b\u3064\u3051\u308b\u305f\u3081\u3001\u773c\u79d1\u30fb\u8074\u899a\u691c\u67fb\u3082\u91cd\u8981\u3067\u3059\u3002\u3042\u308f\u305b\u3066\u4e21\u89aa\u306e\u8840\u6db2\u691c\u67fb\u3092\u884c\u3046\u3053\u3068\u3067\u3001\u30c7\u30ce\u30dc\u306a\u306e\u304b\u5bb6\u65cf\u5185\u3067\u4f1d\u308f\u3063\u305f\u3082\u306e\u306a\u306e\u304b\u3092\u5224\u5225\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"7_%E6%B2%BB%E7%99%82%E3%81%A8%E7%AE%A1%E7%90%86%EF%BC%9A%E3%81%93%E3%82%8C%E3%81%8B%E3%82%89%E3%81%AE%E3%83%AD%E3%83%BC%E3%83%89%E3%83%9E%E3%83%83%E3%83%97\"><\/span><strong>7. \u6cbb\u7642\u3068\u7ba1\u7406\uff1a\u3053\u308c\u304b\u3089\u306e\u30ed\u30fc\u30c9\u30de\u30c3\u30d7<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u67d3\u8272\u4f53\u306e\u6b20\u5931\u305d\u306e\u3082\u306e\u3092\u5143\u306b\u623b\u3059\u6839\u672c\u6cbb\u7642\u306f\u73fe\u5728\u306e\u533b\u7642\u3067\u306f\u307e\u3060\u78ba\u7acb\u3055\u308c\u3066\u304a\u3089\u305a\u3001\u6cbb\u7642\u306e\u76ee\u7684\u306f\u75c7\u72b6\u3092\u548c\u3089\u3052\u3001\u304a\u5b50\u69d8\u306e\u6301\u3063\u3066\u3044\u308b\u80fd\u529b\u3092\u6700\u5927\u9650\u306b\u5f15\u304d\u51fa\u3059\u3053\u3068\uff08\u5bfe\u75c7\u7642\u6cd5\u3068\u7642\u80b2\uff09\u306b\u306a\u308a\u307e\u3059\u3002<\/strong>\u65e9\u671f\u304b\u3089\u9069\u5207\u306a\u30b5\u30dd\u30fc\u30c8\u3092\u53d7\u3051\u308b\u3053\u3068\u3067\u3001\u304a\u5b50\u69d8\u306e\u751f\u6d3b\u306e\u8cea\uff08QOL\uff09\u306f\u5927\u304d\u304f\u5411\u4e0a\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%97%A9%E6%9C%9F%E7%99%82%E8%82%B2%EF%BC%88%E3%83%8F%E3%83%93%E3%83%AA%E3%83%86%E3%83%BC%E3%82%B7%E3%83%A7%E3%83%B3%EF%BC%89\"><\/span><strong>\u65e9\u671f\u7642\u80b2\uff08\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u7406\u5b66\u7642\u6cd5\uff08PT\uff09\uff1a\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u306b\u5bfe\u3057\u3066\u4f53\u5e79\u3092\u935b\u3048\u3001\u5bdd\u8fd4\u308a\u30fb\u304a\u5ea7\u308a\u30fb\u6b69\u884c\u306a\u3069\u306e\u7c97\u5927\u904b\u52d5\u3092\u4fc3\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09\uff1a\u624b\u5148\u306e\u4e0d\u5668\u7528\u3055\u3092\u6539\u5584\u3057\u3001\u304a\u3082\u3061\u3083\u3067\u904a\u3076\u3001\u30b9\u30d7\u30fc\u30f3\u3092\u6301\u3064\u3001\u7740\u66ff\u3048\u308b\u306a\u3069\u65e5\u5e38\u751f\u6d3b\u52d5\u4f5c\u3092\u7df4\u7fd2\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09\uff1a\u8a00\u8449\u306e\u7406\u89e3\u3084\u8868\u51fa\u3092\u4fc3\u3057\u307e\u3059\u3002\u96e2\u4e73\u98df\u304c\u3046\u307e\u304f\u98df\u3079\u3089\u308c\u306a\u3044\u5834\u5408\u306e\u30a2\u30c9\u30d0\u30a4\u30b9\u3082\u884c\u3044\u3001\u30b5\u30a4\u30f3\u3084\u7d75\u30ab\u30fc\u30c9\u306a\u3069\u8a00\u8449\u4ee5\u5916\u306e\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u624b\u6bb5\u3082\u691c\u8a0e\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\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%E3%81%A8%E5%AE%9A%E6%9C%9F%E6%A4%9C%E8%A8%BA\"><\/span><strong>\u533b\u7642\u7684\u30b1\u30a2\u3068\u5b9a\u671f\u691c\u8a3a<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3066\u3093\u304b\u3093\u304c\u3042\u308b\u5834\u5408\u306f\u6297\u3066\u3093\u304b\u3093\u85ac\u3092\u670d\u7528\u3057\u3001\u8133\u6ce2\u691c\u67fb\u3067\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u72b6\u614b\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002\u773c\u79d1\u30fb\u8033\u9f3b\u79d1\u3067\u306f\u5b9a\u671f\u7684\u306b\u8996\u529b\u30fb\u8074\u529b\u3092\u30c1\u30a7\u30c3\u30af\u3057\u3001\u5fc5\u8981\u306a\u3089\u30e1\u30ac\u30cd\u3084\u88dc\u8074\u5668\u3067\u88dc\u6b63\u3057\u307e\u3059\u3002\u611f\u899a\u5165\u529b\u3092\u6574\u3048\u308b\u3053\u3068\u306f\u767a\u9054\u306b\u3068\u3063\u3066\u5927\u5207\u3067\u3059\u3002\u98df\u304c\u7d30\u3044\u3001\u4f53\u91cd\u304c\u5897\u3048\u306b\u304f\u3044\u5834\u5408\u306f\u3001\u6804\u990a\u58eb\u3068\u76f8\u8ac7\u3057\u3066\u98df\u4e8b\u5f62\u614b\u3092\u5de5\u592b\u3057\u305f\u308a\u3001\u6804\u990a\u5264\u3092\u4f7f\u7528\u3057\u305f\u308a\u3057\u307e\u3059\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/32943450_s.webp\" alt=\"\u8d64\u3061\u3083\u3093\" class=\"wp-image-117048\"\/><\/figure><\/div>\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%95%99%E8%82%B2%E3%83%BB%E7%94%9F%E6%B4%BB%E7%92%B0%E5%A2%83%E3%81%AE%E8%AA%BF%E6%95%B4\"><\/span><strong>\u6559\u80b2\u30fb\u751f\u6d3b\u74b0\u5883\u306e\u8abf\u6574<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5c31\u5b66\u306b\u5411\u3051\u3066\u306f\u3001\u5730\u57df\u306e\u7642\u80b2\u30bb\u30f3\u30bf\u30fc\u3084\u6559\u80b2\u59d4\u54e1\u4f1a\u3068\u76f8\u8ac7\u3057\u3001\u304a\u5b50\u69d8\u306e\u7279\u6027\u306b\u5408\u3063\u305f\u74b0\u5883\u3092\u9078\u3073\u307e\u3059\u3002\u7279\u5225\u652f\u63f4\u5b66\u7d1a\u3084\u7279\u5225\u652f\u63f4\u5b66\u6821\u306a\u3069\u500b\u5225\u306b\u76ee\u306e\u884c\u304d\u5c4a\u304f\u74b0\u5883\u304c\u9069\u3057\u3066\u3044\u308b\u5834\u5408\u304c\u591a\u304f\u3001\u8a00\u8449\u3067\u306e\u6307\u793a\u304c\u5165\u308a\u306b\u304f\u3044\u5834\u5408\u306f\u5199\u771f\u3084\u30b9\u30b1\u30b8\u30e5\u30fc\u30eb\u8868\u3092\u4f7f\u3046\u3068\u7406\u89e3\u3057\u3084\u3059\u304f\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"8_%E4%BA%88%E5%BE%8C%E3%81%A8%E8%A6%8B%E9%80%9A%E3%81%97\"><\/span><strong>8. \u4e88\u5f8c\u3068\u898b\u901a\u3057<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u75c7\u4f8b\u6570\u304c\u3054\u304f\u5c11\u306a\u3044\u305f\u3081\u9577\u671f\u7684\u306a\u898b\u901a\u3057\u3092\u4e00\u5f8b\u306b\u8a9e\u308b\u3053\u3068\u306f\u96e3\u3057\u304f\u3001\u6b20\u5931\u306e\u7bc4\u56f2\u3068\u5408\u4f75\u75c7\u306e\u91cd\u3055\u306b\u3088\u3063\u3066\u7d4c\u904e\u304c\u5927\u304d\u304f\u7570\u306a\u308a\u307e\u3059\u3002<\/strong><\/p>\n\n\n\n<p>\u5fc3\u75be\u60a3\u3084\u795e\u7d4c\u5b66\u7684\u306a\u75c7\u72b6\u304c\u8efd\u5ea6\u3067\u3001\u7642\u80b2\u306b\u3088\u3063\u3066\u7740\u5b9f\u306b\u767a\u9054\u304c\u9032\u3093\u3067\u3044\u304f\u304a\u5b50\u69d8\u304c\u3044\u308b\u4e00\u65b9\u3001\u6b20\u5931\u7bc4\u56f2\u304c\u5e83\u304f\u591a\u304f\u306e\u907a\u4f1d\u5b50\u3092\u542b\u3080\u91cd\u75c7\u4f8b\u3067\u306f\u3001\u5fc3\u75be\u60a3\u3084\u8133\u306e\u5f62\u6210\u7570\u5e38\u304c\u91cd\u306a\u308a\u3001\u65b0\u751f\u5150\u671f\u304b\u3089\u96c6\u4e2d\u7684\u306a\u533b\u7642\u7684\u30b1\u30a2\u3092\u8981\u3057\u305f\u75c7\u4f8b\u5831\u544a\u3082\u3042\u308a\u307e\u3059\u3002\u3053\u306e\u5dee\u306f\u3001\u6b20\u5931\u306e\u5927\u304d\u3055\u3068\u305d\u3053\u306b\u542b\u307e\u308c\u308b\u907a\u4f1d\u5b50\u306e\u7d44\u307f\u5408\u308f\u305b\u306b\u3088\u3063\u3066\u751f\u3058\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u79c1\u304c\u3053\u308c\u307e\u3067\u306e\u8a3a\u7642\u306e\u4e2d\u3067\u611f\u3058\u308b\u306e\u306f\u3001\u5fc3\u75be\u60a3\u3084\u547c\u5438\u72b6\u614b\u306a\u3069\u533b\u7642\u7684\u306a\u7ba1\u7406\u304c\u843d\u3061\u7740\u3044\u305f\u5f8c\u306f\u3001\u7642\u80b2\u3092\u3069\u308c\u3060\u3051\u65e9\u304f\u59cb\u3081\u3089\u308c\u308b\u304b\u306b\u3088\u3063\u3066\u65e5\u3005\u306e\u751f\u6d3b\u306e\u3057\u3084\u3059\u3055\u304c\u5909\u308f\u3063\u3066\u304f\u308b\u3068\u3044\u3046\u3053\u3068\u3067\u3059\u3002\u4e16\u754c\u7684\u306b\u3082\u75c7\u4f8b\u306e\u84c4\u7a4d\u304c\u7d9a\u3044\u3066\u3044\u308b\u6bb5\u968e\u306e\u305f\u3081\u3001\u62c5\u5f53\u3059\u308b\u5c0f\u5150\u79d1\u533b\u30fb\u907a\u4f1d\u5c02\u9580\u533b\u3068\u7d4c\u904e\u3092\u78ba\u8a8d\u3057\u306a\u304c\u3089\u898b\u901a\u3057\u3092\u7acb\u3066\u3066\u3044\u304f\u3053\u3068\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"9_%E6%97%A5%E3%80%85%E3%81%AE%E7%94%9F%E6%B4%BB%E3%81%A7%E3%81%AE%E5%B7%A5%E5%A4%AB%E3%81%A8%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>9. \u65e5\u3005\u306e\u751f\u6d3b\u3067\u306e\u5de5\u592b\u3068\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\u3092\u805e\u3044\u305f\u76f4\u5f8c\u306f\u4e0d\u5b89\u306e\u6e26\u4e2d\u306b\u3044\u3089\u3063\u3057\u3083\u308b\u3068\u601d\u3044\u307e\u3059\u304c\u3001\u67d3\u8272\u4f53\u306e\u6b20\u5931\u306f\u3042\u304f\u307e\u3067\u305d\u306e\u5b50\u306e\u300c\u7279\u5fb4\u306e\u4e00\u90e8\u300d\u306b\u904e\u304e\u307e\u305b\u3093\u3002<\/strong>6q24-q25\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u304a\u5b50\u3055\u307e\u3068\u306e\u751f\u6d3b\u3067\u3001\u30d2\u30f3\u30c8\u306b\u306a\u308b\u30dd\u30a4\u30f3\u30c8\u3092\u307e\u3068\u3081\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u300c\u30b9\u30e2\u30fc\u30eb\u30b9\u30c6\u30c3\u30d7\u300d\u3067\u8912\u3081\u308b\uff1a\u4e00\u822c\u7684\u306a\u767a\u9054\u306e\u30de\u30a4\u30eb\u30b9\u30c8\u30fc\u30f3\u3068\u6bd4\u3079\u305a\u3001\u305d\u306e\u5b50\u81ea\u8eab\u306e\u300c\u5148\u6708\u300d\u3068\u300c\u4eca\u6708\u300d\u3092\u6bd4\u3079\u307e\u3057\u3087\u3046\u3002\u5c0f\u3055\u306a\u3067\u304d\u305f\uff01\u3092\u5bb6\u65cf\u3067\u559c\u3073\u5408\u3046\u3053\u3068\u304c\u3001\u89aa\u5b50\u306e\u81ea\u5df1\u80af\u5b9a\u611f\u3092\u9ad8\u3081\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u611f\u899a\u3078\u306e\u914d\u616e\uff1a\u97f3\u306b\u654f\u611f\u3060\u3063\u305f\u308a\u3001\u9006\u306b\u75db\u307f\u3092\u611f\u3058\u306b\u304f\u304b\u3063\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u304a\u5b50\u69d8\u306e\u82e6\u624b\u306a\u523a\u6fc0\u3092\u89b3\u5bdf\u3057\u3001\u5b89\u5fc3\u3067\u304d\u308b\u74b0\u5883\u3092\u4f5c\u3063\u3066\u3042\u3052\u307e\u3057\u3087\u3046\u3002<\/li>\n\n\n\n<li>\u611f\u67d3\u75c7\u5bfe\u7b56\uff1a\u6c17\u9053\u304c\u5f31\u3044\u5834\u5408\u3084\u5fc3\u75be\u60a3\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u98a8\u90aa\u3092\u3053\u3058\u3089\u305b\u3084\u3059\u3044\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u624b\u6d17\u3044\u3084\u30ef\u30af\u30c1\u30f3\u63a5\u7a2e\u306a\u3069\u57fa\u672c\u7684\u306a\u4e88\u9632\u3092\u5927\u5207\u306b\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/li>\n<\/ul>\n\n\n\n<p>6q24-q25\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u304a\u5b50\u3055\u307e\u305f\u3061\u306f\u3001\u78ba\u304b\u306b\u767a\u9054\u306e\u30da\u30fc\u30b9\u306f\u3086\u3063\u304f\u308a\u3067\u3059\u304c\u3001\u305d\u308c\u305e\u308c\u306b\u8c4a\u304b\u306a\u500b\u6027\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u3002\u97f3\u697d\u304c\u5927\u597d\u304d\u3060\u3063\u305f\u308a\u3001\u30cb\u30b3\u30cb\u30b3\u3068\u611b\u5b0c\u304c\u826f\u304f\u5468\u308a\u3092\u660e\u308b\u304f\u3057\u305f\u308a\u3068\u3001\u7d20\u6575\u306a\u9762\u3092\u305f\u304f\u3055\u3093\u898b\u305b\u3066\u304f\u308c\u307e\u3059\u3002\u300c\u3067\u304d\u306a\u3044\u3053\u3068\u300d\u3067\u306f\u306a\u304f\u300c\u3067\u304d\u308b\u3053\u3068\u300d\u306b\u76ee\u3092\u5411\u3051\u3066\u304f\u3060\u3055\u3044\u3002\u4eca\u65e5\u306e\u7b11\u9854\u3001\u4eca\u65e5\u3067\u304d\u305f\u5c0f\u3055\u306a\u3053\u3068\u3002\u305d\u306e\u7a4d\u307f\u91cd\u306d\u304c\u3001\u304a\u5b50\u69d8\u306e\u672a\u6765\u3092\u4f5c\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u3042\u306a\u305f\u4e00\u4eba\u3067\u9811\u5f35\u308b\u5fc5\u8981\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u533b\u5e2b\u3001\u770b\u8b77\u5e2b\u3001\u7642\u6cd5\u58eb\u3001\u5fc3\u7406\u58eb\u3001\u30bd\u30fc\u30b7\u30e3\u30eb\u30ef\u30fc\u30ab\u30fc\u3001\u305d\u3057\u3066\u5730\u57df\u306e\u4fdd\u5065\u5e2b\u3002\u3042\u306a\u305f\u306e\u5468\u308a\u306b\u306f\u3001\u304a\u5b50\u69d8\u3092\u652f\u3048\u308b\u300c\u30c1\u30fc\u30e0\u300d\u3092\u4f5c\u308b\u305f\u3081\u306e\u5c02\u9580\u5bb6\u304c\u305f\u304f\u3055\u3093\u3044\u307e\u3059\u3002\u300c\u8f9b\u3044\u300d\u300c\u3069\u3046\u3057\u3066\u3044\u3044\u304b\u5206\u304b\u3089\u306a\u3044\u300d\u3068\u58f0\u3092\u4e0a\u3052\u308b\u3053\u3068\u306f\u5f31\u3055\u3067\u306f\u306a\u304f\u3001\u304a\u5b50\u69d8\u306e\u305f\u3081\u306b\u5fc5\u8981\u306a\u60c5\u5831\u3092\u5f97\u308b\u305f\u3081\u306e\u5f37\u3055\u3067\u3059\u3002\u8fd1\u6240\u3067\u540c\u3058\u75c5\u6c17\u306e\u304a\u5b50\u3055\u307e\u3092\u898b\u3064\u3051\u308b\u306e\u306f\u96e3\u3057\u3044\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u304c\u3001\u67d3\u8272\u4f53\u8d77\u56e0\u306e\u5e0c\u5c11\u75be\u60a3\u3092\u3082\u3064\u3054\u5bb6\u65cf\u3069\u3046\u3057\u306e\u3064\u306a\u304c\u308a\u3084\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u5c02\u9580\u7684\u306a\u30b5\u30dd\u30fc\u30c8\u306f\u6d3b\u7528\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4ed6\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u30fb\u5e0c\u5c11\u306a\u67d3\u8272\u4f53\u75be\u60a3\u306b\u3064\u3044\u3066\u3082\u6c17\u306b\u306a\u308b\u65b9\u306f\u3001\u3042\u308f\u305b\u3066\u3054\u78ba\u8a8d\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/coffin-siris-syndrome-arid1b-genetics-diagnosis-management\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">Coffin-Siris syndrome 1 <\/div>\n          <div class=\"blog-card-excerpt\">Coffin-Siris\u75c7\u5019\u7fa41\uff08CSS1\uff09\u306fARID1B\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308b\u5e0c\u5c11\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002\u7b2c5\u6307\u306e\u722a\u30fb\u672b\u7bc0\u9aa8\u306e\u4f4e\u5f62\u6210\u3001\u7279\u5fb4\u7684\u306a\u7c97\u306a\u9854...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n    <a href=\"\/nipt\/17q23-1-q23-2-microdeletion-syndrome\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">17q23.1-q23.2\u5fae\u7d30\u6b20\u5931\u75c7\u5019\u7fa4 <\/div>\n          <div class=\"blog-card-excerpt\">17q23.1-q23.2\u5fae\u7d30\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u300117\u756a\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u6d88\u5931\u3059\u308b\u3053\u3068\u3067\u819d\u84cb\u9aa8\u306e\u7570\u5e38\uff08\u5c0f\u819d\u84cb\u9aa8\u75c7\u5019\u7fa4\uff09\u3084\u5185\u53cd\u5c0f\u8db3\u3001\u80ba\u4f4e\u5f62\u6210\u306a\u3069\u3092\u5f15\u304d\u8d77...<\/div>\n      <\/div>\n    <\/a>\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\u3055\u307e\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--2\"><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=\"6q24-q25%E6%AC%A0%E5%A4%B1%E7%97%87%E5%80%99%E7%BE%A4%E3%81%A8%E3%82%B3%E3%83%95%E3%82%A3%E3%83%B3%E3%83%BB%E3%82%B7%E3%83%AA%E3%82%B9%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>6q24-q25\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u30b3\u30d5\u30a3\u30f3\u30fb\u30b7\u30ea\u30b9\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>\u5225\u306e\u75c5\u540d\u3068\u3057\u3066\u6574\u7406\u3055\u308c\u3066\u3044\u307e\u3059\u30026q25.3\u306b\u3042\u308bARID1B\u907a\u4f1d\u5b50\u304c\u6b20\u5931\u306b\u542b\u307e\u308c\u308b\u5834\u5408\u3001\u30b3\u30d5\u30a3\u30f3\u30fb\u30b7\u30ea\u30b9\u75c7\u5019\u7fa4\u306b\u4f3c\u305f\u7279\u5fb4\uff08\u5c0f\u6307\u306e\u722a\u306e\u4f4e\u5f62\u6210\u30fb\u591a\u6bdb\u306a\u3069\uff09\u304c\u73fe\u308c\u307e\u3059\u3002\u6b20\u5931\u306e\u7bc4\u56f2\u306b\u3088\u3063\u3066\u75c7\u72b6\u306e\u7d44\u307f\u5408\u308f\u305b\u306f\u5909\u308f\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%9B%A3%E8%81%B4%E3%81%AF%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%E3%81%BF%E3%82%89%E3%82%8C%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u96e3\u8074\u306f\u3069\u306e\u304f\u3089\u3044\u306e\u983b\u5ea6\u3067\u307f\u3089\u308c\u307e\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>GARD\u3067\u306f\u767a\u9054\u306e\u9045\u308c\u30fb\u7279\u5fb4\u7684\u306a\u9854\u7acb\u3061\u3068\u3042\u308f\u305b\u3066\u3001\u96e3\u8074\u3092\u4e2d\u5fc3\u7684\u306a\u75c7\u72b6\u306e\u4e00\u3064\u3068\u3057\u3066\u7d39\u4ecb\u3057\u3066\u3044\u307e\u3059\u3002\u3059\u3079\u3066\u306e\u304a\u5b50\u3055\u307e\u306b\u898b\u3089\u308c\u308b\u308f\u3051\u3067\u306f\u306a\u304f\u3001\u4f1d\u97f3\u6027\u30fb\u611f\u97f3\u6027\u3044\u305a\u308c\u306e\u53ef\u80fd\u6027\u3082\u3042\u308b\u305f\u3081\u3001\u51fa\u751f\u5f8c\u306e\u8074\u899a\u691c\u67fb\u3067\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"6q24-q25%E9%A0%98%E5%9F%9F%E3%81%AE%E6%AC%A0%E5%A4%B1%E3%81%AFNIPT%E3%81%A7%E3%82%8F%E3%81%8B%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span>6q24-q25\u9818\u57df\u306e\u6b20\u5931\u306fNIPT\u3067\u308f\u304b\u308a\u307e\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6a19\u6e96\u7684\u306aNIPT\u306e\u5bfe\u8c61\u306b\u306f\u901a\u5e38\u542b\u307e\u308c\u305a\u3001<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\u5927\u691c\u67fb\u3067\u3082\u3001\u540d\u6307\u3057\u3067\u5bfe\u8c61\u306b\u542b\u3080\u4f1a\u793e\u306f\u9650\u3089\u308c\u307e\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>\u5927\u591a\u6570\u306f\u30c7\u30ce\u30dc\uff08\u5076\u767a\u7684\u306a\u5909\u5316\uff09\u3067\u3001\u3053\u306e\u5834\u5408\u306f\u6b21\u306e\u304a\u5b50\u3055\u307e\u3078\u306e\u518d\u767a\u30ea\u30b9\u30af\u306f\u4e00\u822c\u7684\u306b\u4f4e\u3044\u3068\u3055\u308c\u307e\u3059\u3002\u305f\u3060\u3057\u3054\u4e21\u89aa\u306e\u3069\u3061\u3089\u304b\u304c\u5747\u8861\u578b\u8ee2\u5ea7\u3084\u8efd\u5ea6\u306e\u6b20\u5931\u3092\u304a\u6301\u3061\u306e\u5834\u5408\u306f\u518d\u767a\u30ea\u30b9\u30af\u304c\u9ad8\u307e\u308b\u3053\u3068\u304c\u3042\u308b\u305f\u3081\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\u3002\u5f93\u6765\u306e\u9855\u5fae\u93e1\u691c\u67fb\u3067\u306f\u898b\u9003\u3055\u308c\u308b\u3088\u3046\u306a\u5fae\u7d30\u306a\u6b20\u5931\u3082\u767a\u898b\u3067\u304d\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u4e21\u89aa\u306e\u8840\u6db2\u691c\u67fb\u3067\u30c7\u30ce\u30dc\u304b\u3069\u3046\u304b\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%97%87%E7%8A%B6%E3%81%AE%E9%87%8D%E3%81%95%E3%81%AF%E6%AC%A0%E5%A4%B1%E3%81%AE%E7%AF%84%E5%9B%B2%E3%81%AB%E3%82%88%E3%81%A3%E3%81%A6%E5%A4%89%E3%82%8F%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u75c7\u72b6\u306e\u91cd\u3055\u306f\u6b20\u5931\u306e\u7bc4\u56f2\u306b\u3088\u3063\u3066\u5909\u308f\u308a\u307e\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u306f\u3044\u3002\u6b20\u5931\u304c\u5927\u304d\u304f\u542b\u307e\u308c\u308b\u907a\u4f1d\u5b50\u306e\u6570\u304c\u591a\u3044\u307b\u3069\u3001\u5fc3\u75be\u60a3\u3084\u795e\u7d4c\u5b66\u7684\u306a\u75c7\u72b6\u304c\u91cd\u306a\u308a\u3084\u3059\u3044\u50be\u5411\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u540c\u3058\u75c5\u540d\u3067\u3082\u6b20\u5931\u7bc4\u56f2\u306f\u75c7\u4f8b\u3054\u3068\u306b\u7570\u306a\u308b\u305f\u3081\u3001\u62c5\u5f53\u533b\u304b\u3089\u6b20\u5931\u306e\u5927\u304d\u3055\u306b\u3064\u3044\u3066\u8aac\u660e\u3092\u53d7\u3051\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<p><strong>\u76e3\u4fee\uff1a\u5ca1\u535a\u53f2\uff08\u304a\u304b \u3072\u308d\u3057\uff09<\/strong> \/ \u533b\u7642\u6cd5\u4eba\u793e\u56e3\u798f\u7f8e\u4f1a \u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u7d71\u62ec\u9662\u9577\u30fbLabo 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