{"id":121665,"date":"2026-01-07T15:53:56","date_gmt":"2026-01-07T06:53:56","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=121665"},"modified":"2026-07-27T05:38:37","modified_gmt":"2026-07-26T20:38:37","slug":"chromosome-xq22-3-deletion-syndrome","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-xq22-3-deletion-syndrome\/","title":{"rendered":"\u67d3\u8272\u4f53Xq22.3\u6b20\u5931\u75c7\u5019\u7fa4\uff5c\u539f\u56e0\u30fb\u75c7\u72b6\u3068NIPT\u306e\u95a2\u4fc2"},"content":{"rendered":"\n<p><strong>\u304a\u5b50\u3055\u307e\u306e\u691c\u67fb\u7d50\u679c\u306b\u300c\u67d3\u8272\u4f53Xq22.3\u6b20\u5931\u75c7\u5019\u7fa4\u300d\u3068\u3044\u3046\u8a3a\u65ad\u540d\u304c\u8a18\u8f09\u3055\u308c\u3001\u805e\u304d\u6163\u308c\u306a\u3044\u8a00\u8449\u306b\u6238\u60d1\u3063\u3066\u3044\u3089\u3063\u3057\u3083\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002<\/strong><\/p>\n\n\n\n<p><strong>\u7d50\u8ad6\u304b\u3089\u304a\u4f1d\u3048\u3057\u307e\u3059\u3002\u3053\u306e\u75c5\u6c17\u306fX\u67d3\u8272\u4f53\u306e\u9577\u815522.3\u3068\u3044\u3046\u9818\u57df\u306b\u3042\u308b\u3001COL4A5\u30fbCOL4A6\u3068\u3044\u3046\u96a3\u308a\u5408\u30462\u3064\u306e\u907a\u4f1d\u5b50\u304c\u540c\u6642\u306b\u6b20\u3051\u308b\u3053\u3068\u3067\u8d77\u3053\u308b\u3001\u975e\u5e38\u306b\u307e\u308c\u306a\u300c\u96a3\u63a5\u907a\u4f1d\u5b50\u75c7\u5019\u7fa4\u300d\u3067\u3059\u3002<\/strong>\u814e\u81d3\u306e\u75c5\u6c17\u3067\u3042\u308b\u30a2\u30eb\u30dd\u30fc\u30c8\u75c7\u5019\u7fa4\u3068\u3001\u98df\u9053\u306a\u3069\u306b\u3067\u304d\u308b\u826f\u6027\u816b\u760d\u300c\u3073\u307e\u3093\u6027\u5e73\u6ed1\u7b4b\u816b\u75c7\u300d\u3092\u4e2d\u5fc3\u306b\u3001\u6b20\u5931\u306e\u7bc4\u56f2\u306b\u3088\u3063\u3066\u306f\u767a\u9054\u306e\u9045\u308c\u306a\u3069\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\u3051\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\u907a\u4f1d\u5b50\u306e\u4ed5\u7d44\u307f\u304b\u3089\u3001\u4f53\u306e\u90e8\u4f4d\u3054\u3068\u306b\u73fe\u308c\u308b\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\u8a3a\u65ad\u306e\u6d41\u308c\u3001\u6cbb\u7642\u3068\u3054\u5bb6\u65cf\u3078\u306e\u652f\u63f4\u307e\u3067\u3092\u6574\u7406\u3057\u307e\u3059\u3002GeneReviews\uff08\u7c73\u56fd\u56fd\u7acb\u533b\u5b66\u56f3\u66f8\u9928\uff09\u3001\u96e3\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc\u3001Orphanet\u306a\u3069\u306e\u516c\u7684\u6a5f\u95a2\u30fb\u5b66\u8853\u60c5\u5831\u306b\u3082\u3068\u3065\u3044\u3066\u304a\u4f1d\u3048\u3057\u307e\u3059\u3002\u4e00\u3064\u3072\u3068\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>\u67d3\u8272\u4f53Xq22.3\u6b20\u5931\u75c7\u5019\u7fa4\u304c\u3069\u306e\u3088\u3046\u306a\u300c\u96a3\u63a5\u907a\u4f1d\u5b50\u75c7\u5019\u7fa4\u300d\u306a\u306e\u304b<\/li>\n<li>COL4A5\u30fbCOL4A6\u30fbAMMECR1\u3068\u3044\u3046\u907a\u4f1d\u5b50\u3068\u75c7\u72b6\u306e\u95a2\u4fc2<\/li>\n<li>\u814e\u81d3\u30fb\u8074\u899a\u30fb\u5e73\u6ed1\u7b4b\u30fb\u767a\u9054\u306b\u73fe\u308c\u308b\u4e3b\u306a\u75c7\u72b6<\/li>\n<li>X\u9023\u9396\u6027\u907a\u4f1d\u306e\u4ed5\u7d44\u307f\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<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"640\" height=\"428\" src=\"\/nipt\/wp-content\/uploads\/2026\/01\/4179475_s.webp\" alt=\"\u67d3\u8272\u4f53Xq22.3\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u8a3a\u65ad\u3055\u308c\u305f\u304a\u5b50\u3055\u307e\u3092\u898b\u5b88\u308b\u5bb6\u65cf\u306e\u30a4\u30e1\u30fc\u30b8\" class=\"wp-image-121550\"\/><\/figure><\/div>\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-xq22-3-deletion-syndrome\/#1_%E6%9F%93%E8%89%B2%E4%BD%93Xq223%E6%AC%A0%E5%A4%B1%E7%97%87%E5%80%99%E7%BE%A4%E3%81%A8%E3%81%AF%EF%BC%88%E9%9A%A3%E6%8E%A5%E9%81%BA%E4%BC%9D%E5%AD%90%E7%97%87%E5%80%99%E7%BE%A4%E3%81%A8%E3%81%84%E3%81%86%E7%89%B9%E5%BE%B4%EF%BC%89\" >1. \u67d3\u8272\u4f53Xq22.3\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u306f\uff08\u96a3\u63a5\u907a\u4f1d\u5b50\u75c7\u5019\u7fa4\u3068\u3044\u3046\u7279\u5fb4\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-xq22-3-deletion-syndrome\/#%E3%82%A2%E3%83%AB%E3%83%9D%E3%83%BC%E3%83%88%E7%97%87%E5%80%99%E7%BE%A4%EF%BC%8B%E3%81%B3%E3%81%BE%E3%82%93%E6%80%A7%E5%B9%B3%E6%BB%91%E7%AD%8B%E8%85%AB%E7%97%87%E3%81%A8%E3%81%84%E3%81%86%E7%B5%84%E3%81%BF%E5%90%88%E3%82%8F%E3%81%9B\" >\u30a2\u30eb\u30dd\u30fc\u30c8\u75c7\u5019\u7fa4\uff0b\u3073\u307e\u3093\u6027\u5e73\u6ed1\u7b4b\u816b\u75c7\u3068\u3044\u3046\u7d44\u307f\u5408\u308f\u305b<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-xq22-3-deletion-syndrome\/#%E3%80%8CXq223%E3%83%86%E3%83%AD%E3%83%A1%E3%82%A2%E6%AC%A0%E5%A4%B1%E7%97%87%E5%80%99%E7%BE%A4%E3%80%8D%E3%81%A8%E3%81%AE%E9%81%95%E3%81%84\" >\u300cXq22.3\u30c6\u30ed\u30e1\u30a2\u6b20\u5931\u75c7\u5019\u7fa4\u300d\u3068\u306e\u9055\u3044<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-xq22-3-deletion-syndrome\/#2_%E4%B8%BB%E3%81%AA%E7%97%87%E7%8A%B6%EF%BC%88%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%8B4%E3%81%A4%E3%81%AE%E7%8F%BE%E3%82%8C%E6%96%B9%EF%BC%89\" >2. \u4e3b\u306a\u75c7\u72b6\uff08\u6b20\u5931\u306e\u7bc4\u56f2\u306b\u3088\u3063\u3066\u5909\u308f\u308b4\u3064\u306e\u73fe\u308c\u65b9\uff09<\/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-xq22-3-deletion-syndrome\/#%E2%91%A0_%E8%85%8E%E8%87%93%E3%81%AE%E7%97%87%E7%8A%B6%EF%BC%88%E3%82%A2%E3%83%AB%E3%83%9D%E3%83%BC%E3%83%88%E7%97%87%E5%80%99%E7%BE%A4%E3%81%AE%E8%A6%81%E7%B4%A0%EF%BC%89\" >\u2460 \u814e\u81d3\u306e\u75c7\u72b6\uff08\u30a2\u30eb\u30dd\u30fc\u30c8\u75c7\u5019\u7fa4\u306e\u8981\u7d20\uff09<\/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-xq22-3-deletion-syndrome\/#%E2%91%A1_%E8%81%B4%E8%A6%9A%E3%83%BB%E7%9C%BC%E3%81%AE%E7%97%87%E7%8A%B6\" >\u2461 \u8074\u899a\u30fb\u773c\u306e\u75c7\u72b6<\/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-xq22-3-deletion-syndrome\/#%E2%91%A2_%E5%B9%B3%E6%BB%91%E7%AD%8B%EF%BC%88%E3%81%B8%E3%81%84%E3%81%8B%E3%81%A4%E3%81%8D%E3%82%93%EF%BC%89%E3%81%AE%E7%97%87%E7%8A%B6%EF%BC%88%E3%81%B3%E3%81%BE%E3%82%93%E6%80%A7%E5%B9%B3%E6%BB%91%E7%AD%8B%E8%85%AB%E7%97%87%EF%BC%89\" >\u2462 \u5e73\u6ed1\u7b4b\uff08\u3078\u3044\u304b\u3064\u304d\u3093\uff09\u306e\u75c7\u72b6\uff08\u3073\u307e\u3093\u6027\u5e73\u6ed1\u7b4b\u816b\u75c7\uff09<\/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-xq22-3-deletion-syndrome\/#%E2%91%A3_%E6%AC%A0%E5%A4%B1%E7%AF%84%E5%9B%B2%E3%81%8C%E5%BA%83%E3%81%84%E5%A0%B4%E5%90%88%EF%BC%88AMME_complex%EF%BC%89\" >\u2463 \u6b20\u5931\u7bc4\u56f2\u304c\u5e83\u3044\u5834\u5408\uff08AMME complex\uff09<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-xq22-3-deletion-syndrome\/#3_%E5%8E%9F%E5%9B%A0%E3%81%A8%E9%81%BA%E4%BC%9D%E3%81%AE%E4%BB%95%E7%B5%84%E3%81%BF%EF%BC%88X%E9%80%A3%E9%8E%96%E6%80%A7%E9%81%BA%E4%BC%9D%EF%BC%89\" >3. \u539f\u56e0\u3068\u907a\u4f1d\u306e\u4ed5\u7d44\u307f\uff08X\u9023\u9396\u6027\u907a\u4f1d\uff09<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-xq22-3-deletion-syndrome\/#%E7%94%B7%E5%A5%B3%E3%81%A7%E7%97%87%E7%8A%B6%E3%81%AE%E9%87%8D%E3%81%95%E3%81%8C%E5%A4%89%E3%82%8F%E3%82%8B%E7%90%86%E7%94%B1\" >\u7537\u5973\u3067\u75c7\u72b6\u306e\u91cd\u3055\u304c\u5909\u308f\u308b\u7406\u7531<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-xq22-3-deletion-syndrome\/#%E3%83%87%E3%83%8E%E3%83%9C%EF%BC%88%E6%96%B0%E7%94%9F%E7%AA%81%E7%84%B6%E5%A4%89%E7%95%B0%EF%BC%89%E3%81%A8%E5%AE%B6%E6%97%8F%E5%86%85%E4%BC%9D%E9%81%94\" >\u30c7\u30ce\u30dc\uff08\u65b0\u751f\u7a81\u7136\u5909\u7570\uff09\u3068\u5bb6\u65cf\u5185\u4f1d\u9054<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-12\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-xq22-3-deletion-syndrome\/#4_%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\" >4. \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-13\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-xq22-3-deletion-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-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-xq22-3-deletion-syndrome\/#%E2%91%A0_%E3%83%9E%E3%82%A4%E3%82%AF%E3%83%AD%E3%82%A2%E3%83%AC%E3%82%A4%E6%9F%93%E8%89%B2%E4%BD%93%E6%A4%9C%E6%9F%BB%EF%BC%88CMA%EF%BC%89\" >\u2460 \u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\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-15\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-xq22-3-deletion-syndrome\/#%E2%91%A1_%E5%B0%BF%E6%A4%9C%E6%9F%BB%E3%83%BB%E8%A1%80%E6%B6%B2%E6%A4%9C%E6%9F%BB\" >\u2461 \u5c3f\u691c\u67fb\u30fb\u8840\u6db2\u691c\u67fb<\/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-xq22-3-deletion-syndrome\/#%E2%91%A2_%E7%94%BB%E5%83%8F%E6%A4%9C%E6%9F%BB%E3%83%BB%E7%B5%84%E7%B9%94%E7%94%9F%E6%A4%9C\" >\u2462 \u753b\u50cf\u691c\u67fb\u30fb\u7d44\u7e54\u751f\u691c<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-xq22-3-deletion-syndrome\/#6_%E6%B2%BB%E7%99%82%E3%81%A8%E7%AE%A1%E7%90%86\" >6. \u6cbb\u7642\u3068\u7ba1\u7406<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-18\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-xq22-3-deletion-syndrome\/#%E8%85%8E%E8%87%93%E3%81%AE%E4%BF%9D%E8%AD%B7%EF%BC%88%E6%9C%80%E3%82%82%E9%87%8D%E8%A6%81%EF%BC%89\" >\u814e\u81d3\u306e\u4fdd\u8b77\uff08\u6700\u3082\u91cd\u8981\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-19\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-xq22-3-deletion-syndrome\/#%E8%81%B4%E8%A6%9A%E3%81%AE%E3%82%B5%E3%83%9D%E3%83%BC%E3%83%88\" >\u8074\u899a\u306e\u30b5\u30dd\u30fc\u30c8<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-20\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-xq22-3-deletion-syndrome\/#%E5%B9%B3%E6%BB%91%E7%AD%8B%E8%85%AB%EF%BC%88%E9%A3%9F%E9%81%93%E3%81%AA%E3%81%A9%EF%BC%89%E3%81%B8%E3%81%AE%E5%AF%BE%E5%BF%9C\" >\u5e73\u6ed1\u7b4b\u816b\uff08\u98df\u9053\u306a\u3069\uff09\u3078\u306e\u5bfe\u5fdc<\/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-xq22-3-deletion-syndrome\/#%E7%99%BA%E9%81%94%E3%83%BB%E7%99%82%E8%82%B2%E7%9A%84%E3%82%B5%E3%83%9D%E3%83%BC%E3%83%88\" >\u767a\u9054\u30fb\u7642\u80b2\u7684\u30b5\u30dd\u30fc\u30c8<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-22\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-xq22-3-deletion-syndrome\/#7_%E3%81%BE%E3%81%A8%E3%82%81%EF%BC%9A%E7%97%85%E6%B0%97%E3%81%A8%E3%81%AE%E4%BB%98%E3%81%8D%E5%90%88%E3%81%84%E6%96%B9\" >7. \u307e\u3068\u3081\uff1a\u75c5\u6c17\u3068\u306e\u4ed8\u304d\u5408\u3044\u65b9<\/a><\/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-xq22-3-deletion-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-24\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-xq22-3-deletion-syndrome\/#%E3%82%88%E3%81%8F%E3%81%82%E3%82%8B%E8%B3%AA%E5%95%8F\" >\u3088\u304f\u3042\u308b\u8cea\u554f<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-25\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-xq22-3-deletion-syndrome\/#%E6%9F%93%E8%89%B2%E4%BD%93Xq223%E6%AC%A0%E5%A4%B1%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\" >\u67d3\u8272\u4f53Xq22.3\u6b20\u5931\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-26\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-xq22-3-deletion-syndrome\/#%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E7%97%87%E7%8A%B6%E3%81%8C%E3%81%82%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >\u3069\u306e\u3088\u3046\u306a\u75c7\u72b6\u304c\u3042\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-27\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-xq22-3-deletion-syndrome\/#%E9%81%BA%E4%BC%9D%E6%80%A7%E3%81%AE%E7%97%85%E6%B0%97%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82%E6%AC%A1%E3%81%AE%E5%AD%90%E3%81%AB%E3%82%82%E5%BD%B1%E9%9F%BF%E3%81%97%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >\u907a\u4f1d\u6027\u306e\u75c5\u6c17\u3067\u3059\u304b\u3002\u6b21\u306e\u5b50\u306b\u3082\u5f71\u97ff\u3057\u307e\u3059\u304b\u3002<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-28\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-xq22-3-deletion-syndrome\/#%E6%9F%93%E8%89%B2%E4%BD%93Xq223%E6%AC%A0%E5%A4%B1%E7%97%87%E5%80%99%E7%BE%A4%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\" >\u67d3\u8272\u4f53Xq22.3\u6b20\u5931\u75c7\u5019\u7fa4\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-29\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-xq22-3-deletion-syndrome\/#%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E6%A4%9C%E6%9F%BB%E3%81%A7%E7%A2%BA%E5%AE%9A%E8%A8%BA%E6%96%AD%E3%81%95%E3%82%8C%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >\u3069\u306e\u3088\u3046\u306a\u691c\u67fb\u3067\u78ba\u5b9a\u8a3a\u65ad\u3055\u308c\u307e\u3059\u304b\u3002<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-30\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-xq22-3-deletion-syndrome\/#%E6%B2%BB%E7%99%82%E6%B3%95%E3%81%AF%E3%81%82%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u3059\u304b\u3002<\/a><\/li><\/ul><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E6%9F%93%E8%89%B2%E4%BD%93Xq223%E6%AC%A0%E5%A4%B1%E7%97%87%E5%80%99%E7%BE%A4%E3%81%A8%E3%81%AF%EF%BC%88%E9%9A%A3%E6%8E%A5%E9%81%BA%E4%BC%9D%E5%AD%90%E7%97%87%E5%80%99%E7%BE%A4%E3%81%A8%E3%81%84%E3%81%86%E7%89%B9%E5%BE%B4%EF%BC%89\"><\/span><strong>1. \u67d3\u8272\u4f53Xq22.3\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u306f\uff08\u96a3\u63a5\u907a\u4f1d\u5b50\u75c7\u5019\u7fa4\u3068\u3044\u3046\u7279\u5fb4\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u3053\u306e\u75c5\u6c17\u306f\u3001X\u67d3\u8272\u4f53\u306e\u9577\u815522.3\u306b\u3042\u308b2\u3064\u306e\u907a\u4f1d\u5b50COL4A5\u30fbCOL4A6\u304c\u3001\u982d\u3068\u982d\u3092\u7a81\u304d\u5408\u308f\u305b\u308b\u3088\u3046\u306b\u4e26\u3093\u3067\u5b58\u5728\u3059\u308b\u90e8\u5206\u306e\u6b20\u5931\u306b\u3088\u3063\u3066\u8d77\u3053\u308a\u307e\u3059\u3002<\/strong>\u307e\u305a\u306f\u75c5\u540d\u3092\u5206\u89e3\u3057\u3066\u6574\u7406\u3057\u307e\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u67d3\u8272\u4f53\uff08Chromosome\uff09<\/strong>\uff1a\u4f53\u306e\u8a2d\u8a08\u56f3\uff08DNA\uff09\u304c\u53ce\u7d0d\u3055\u308c\u305f\u69cb\u9020\u7269\u3067\u3059\u3002\u4eba\u306b\u306f46\u672c\u3042\u308a\u3001\u3046\u30612\u672c\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/testing\/#anchor_sex\">\u6027\u5225<\/a>\u3092\u6c7a\u3081\u308b\u6027\u67d3\u8272\u4f53\uff08X\u3068Y\uff09\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>Xq22.3<\/strong>\uff1aX\u67d3\u8272\u4f53\u306e\u9577\u8155\uff08q\uff09\u306b\u3042\u308b\u300c22.3\u300d\u3068\u3044\u3046\u7279\u5b9a\u306e\u5834\u6240\u3092\u6307\u3059\u3001\u4f4f\u6240\u306e\u3088\u3046\u306a\u8868\u8a18\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6b20\u5931\uff08Deletion\uff09<\/strong>\uff1a\u305d\u306e\u5834\u6240\u306b\u3042\u308b\u907a\u4f1d\u60c5\u5831\u306e\u4e00\u90e8\u304c\u3001\u751f\u307e\u308c\u3064\u304d\u629c\u3051\u843d\u3061\u3066\u3044\u308b\u72b6\u614b\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u75c7\u5019\u7fa4\uff08Syndrome\uff09<\/strong>\uff1a\u8907\u6570\u306e\u75c7\u72b6\u304c\u7279\u5fb4\u7684\u306a\u7d44\u307f\u5408\u308f\u305b\u3067\u73fe\u308c\u308b\u75c5\u6c17\u3092\u6307\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u7c73\u56fd\u56fd\u7acb\u533b\u5b66\u56f3\u66f8\u9928\u304c\u516c\u958b\u3059\u308b\u5c02\u9580\u5bb6\u5411\u3051\u533b\u5b66\u60c5\u5831<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1207\/\" target=\"_blank\" rel=\"noopener\">GeneReviews\u300cAlport Syndrome\u300d<\/a>\u306b\u3088\u308b\u3068\u3001COL4A5\u3068COL4A6\u306f\u982d\u90e8\uff085\u2032\u672b\u7aef\uff09\u3069\u3046\u3057\u304c\u5411\u304b\u3044\u5408\u3046\u5f62\u3067Xq22\u306b\u4e26\u3093\u3067\u304a\u308a\u3001\u3053\u306e2\u3064\u306e\u907a\u4f1d\u5b50\u3092\u307e\u305f\u3050\u6b20\u5931\u304c\u8d77\u3053\u308b\u3068\u3001\u814e\u81d3\u306e\u75c5\u6c17\u3068\u5e73\u6ed1\u7b4b\u306e\u75c5\u6c17\u304c\u540c\u6642\u306b\u767a\u75c7\u3059\u308b\u300c\u96a3\u63a5\u907a\u4f1d\u5b50\u75c7\u5019\u7fa4\u300d\u306b\u306a\u308b\u3068\u8aac\u660e\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%82%A2%E3%83%AB%E3%83%9D%E3%83%BC%E3%83%88%E7%97%87%E5%80%99%E7%BE%A4%EF%BC%8B%E3%81%B3%E3%81%BE%E3%82%93%E6%80%A7%E5%B9%B3%E6%BB%91%E7%AD%8B%E8%85%AB%E7%97%87%E3%81%A8%E3%81%84%E3%81%86%E7%B5%84%E3%81%BF%E5%90%88%E3%82%8F%E3%81%9B\"><\/span><strong>\u30a2\u30eb\u30dd\u30fc\u30c8\u75c7\u5019\u7fa4\uff0b\u3073\u307e\u3093\u6027\u5e73\u6ed1\u7b4b\u816b\u75c7\u3068\u3044\u3046\u7d44\u307f\u5408\u308f\u305b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6b20\u5931\u306e\u7bc4\u56f2\u306b\u3088\u3063\u3066\u3001\u73fe\u308c\u308b\u75c5\u6c17\u306e\u7d44\u307f\u5408\u308f\u305b\u306f\u5909\u308f\u308a\u307e\u3059\u3002<a href=\"https:\/\/www.orpha.net\/en\/disease\/detail\/1018\" target=\"_blank\" rel=\"noopener\">Orphanet\uff08\u6b27\u5dde\u306e\u5e0c\u5c11\u75be\u60a3\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\uff09<\/a>\u3067\u306f\u3001COL4A5\u30fbCOL4A6\u306e\u4e21\u65b9\u306b\u307e\u305f\u304c\u308b\u6b20\u5931\u3067\u8d77\u3053\u308b\u3053\u306e\u75c5\u614b\u3092\u300cX-linked Alport syndrome-diffuse leiomyomatosis\u300d\u3068\u3057\u3066\u767b\u9332\u3057\u3066\u304a\u308a\u3001\u4ee3\u8868\u7684\u306a\u75c7\u72b6\u306f\u6b21\u306e2\u3064\u306b\u6574\u7406\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>\u30a2\u30eb\u30dd\u30fc\u30c8\u75c7\u5019\u7fa4\uff08Alport syndrome\uff09<\/strong>\uff1a\u8840\u5c3f\u30fb\u30bf\u30f3\u30d1\u30af\u5c3f\u306a\u3069\u814e\u81d3\u306e\u75c5\u6c17\u3068\u3001\u9032\u884c\u6027\u306e\u96e3\u8074\u30fb\u773c\u306e\u7570\u5e38\u3092\u4f34\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u3073\u307e\u3093\u6027\u5e73\u6ed1\u7b4b\u816b\u75c7\uff08Diffuse Leiomyomatosis\uff09<\/strong>\uff1a\u98df\u9053\u3084\u6c17\u7ba1\u30fb\u6c17\u7ba1\u652f\u3001\u5973\u6027\u3067\u306f\u751f\u6b96\u5668\u306e\u5e73\u6ed1\u7b4b\u306b\u826f\u6027\u306e\u816b\u760d\u304c\u591a\u767a\u3057\u307e\u3059\u3002<\/li>\n<\/ol>\n\n\n\n<p>\u6b20\u5931\u304c\u3055\u3089\u306b\u5e83\u7bc4\u56f2\u306b\u53ca\u3073\u3001\u96a3\u63a5\u3059\u308b<strong>AMMECR1<\/strong>\u907a\u4f1d\u5b50\u307e\u3067\u542b\u3080\u5834\u5408\u306f\u3001\u77e5\u7684\u767a\u9054\u3078\u306e\u5f71\u97ff\u3084\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u304c\u52a0\u308f\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u6b21\u306e\u7ae0\u3067\u3001\u3053\u306e3\u3064\u306e\u907a\u4f1d\u5b50\u3068\u75c7\u72b6\u306e\u95a2\u4fc2\u3092\u8868\u3067\u6574\u7406\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<figure class=\"wp-table-block\"><table><thead><tr><th>\u907a\u4f1d\u5b50<\/th><th>\u4e3b\u306a\u50cd\u304d<\/th><th>\u6b20\u5931\u3057\u305f\u5834\u5408\u306b\u95a2\u9023\u3059\u308b\u75c7\u72b6<\/th><\/tr><\/thead><tbody><tr><td>COL4A5<\/td><td>\u814e\u81d3\u306e\u7cf8\u7403\u4f53\u57fa\u5e95\u819c\u30fb\u8033\u30fb\u773c\u3092\u69cb\u6210\u3059\u308bIV\u578b\u30b3\u30e9\u30fc\u30b2\u30f3\u03b15\u9396\u3092\u3064\u304f\u308b<\/td><td>\u30a2\u30eb\u30dd\u30fc\u30c8\u75c7\u5019\u7fa4\uff08\u8840\u5c3f\u30fb\u30bf\u30f3\u30d1\u30af\u5c3f\u30fb\u96e3\u8074\u30fb\u773c\u306e\u7570\u5e38\uff09\u306e\u4e2d\u5fc3\u7684\u306a\u539f\u56e0<\/td><\/tr><tr><td>COL4A6<\/td><td>COL4A5\u3068Xq22\u3067\u982d\u3069\u3046\u3057\u304c\u5411\u304b\u3044\u5408\u3063\u3066\u4e26\u3076\u3001\u5e73\u6ed1\u7b4b\u306b\u767a\u73fe\u3059\u308b\u30b3\u30e9\u30fc\u30b2\u30f3\u9396\u3092\u3064\u304f\u308b<\/td><td>\u5358\u72ec\u306e\u7570\u5e38\u3067\u306f\u75c7\u72b6\u3092\u8d77\u3053\u3057\u306b\u304f\u3044\u304c\u3001COL4A5\u3068\u306e\u540c\u6642\u6b20\u5931\u3067\u3073\u307e\u3093\u6027\u5e73\u6ed1\u7b4b\u816b\u75c7\u306b\u95a2\u4e0e<\/td><\/tr><tr><td>AMMECR1<\/td><td>\u8a73\u3057\u3044\u6a5f\u80fd\u306f\u7814\u7a76\u6bb5\u968e\u3060\u304c\u3001\u767a\u9054\u3084\u9854\u8c8c\u306e\u5f62\u6210\u306b\u95a2\u308f\u308b\u3068\u3055\u308c\u308b<\/td><td>\u6b20\u5931\u7bc4\u56f2\u304c\u5e83\u3044\u5834\u5408\u306e\u77e5\u7684\u767a\u9054\u306e\u9045\u308c\u30fb\u4e2d\u9854\u9762\u4f4e\u5f62\u6210\u30fb\u6955\u5186\u8d64\u8840\u7403\u75c7\u3068\u95a2\u9023<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%80%8CXq223%E3%83%86%E3%83%AD%E3%83%A1%E3%82%A2%E6%AC%A0%E5%A4%B1%E7%97%87%E5%80%99%E7%BE%A4%E3%80%8D%E3%81%A8%E3%81%AE%E9%81%95%E3%81%84\"><\/span><strong>\u300cXq22.3\u30c6\u30ed\u30e1\u30a2\u6b20\u5931\u75c7\u5019\u7fa4\u300d\u3068\u306e\u9055\u3044<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u540c\u3058\u300cXq22.3\u300d\u3068\u3044\u3046\u5834\u6240\u3092\u542b\u3080\u8a3a\u65ad\u540d\u3067\u3082\u3001\u6b20\u5931\u306e\u7bc4\u56f2\u304c\u3055\u3089\u306b\u672b\u7aef\uff08\u30c6\u30ed\u30e1\u30a2\u5074\uff09\u307e\u3067\u5e83\u304f\u53ca\u3076\u30b1\u30fc\u30b9\u3067\u306f\u3001CLDN2\uff08\u81b5\u708e\u306b\u95a2\u9023\uff09\u3084PRPS1\uff08\u96e3\u8074\u30fb\u795e\u7d4c\u969c\u5bb3\u306b\u95a2\u9023\uff09\u3068\u3044\u3063\u305f\u3001\u4eca\u56de\u3068\u306f\u5225\u306e\u907a\u4f1d\u5b50\u7fa4\u304c\u5bfe\u8c61\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u306e\u672b\u7aef\u5074\u307e\u3067\u542b\u3080\u5e83\u7bc4\u306a\u6b20\u5931\u306b\u3064\u3044\u3066\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/xq22-3-deletion-syndrome\/\">Xq22.3\u30c6\u30ed\u30e1\u30a2\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u89e3\u8aac\u8a18\u4e8b<\/a>\u3067\u500b\u5225\u306b\u6574\u7406\u3057\u3066\u3044\u307e\u3059\u306e\u3067\u3001\u691c\u67fb\u5831\u544a\u66f8\u306b\u8a18\u8f09\u3055\u308c\u305f\u6b20\u5931\u7bc4\u56f2\u304cCOL4A5\u30fbCOL4A6\u30fbAMMECR1\u306e\u5468\u8fba\u306b\u3068\u3069\u307e\u308b\u304b\u3001\u305d\u308c\u3088\u308a\u5e83\u3044\u304b\u3092\u62c5\u5f53\u533b\u3068\u78ba\u8a8d\u3057\u3066\u307f\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E4%B8%BB%E3%81%AA%E7%97%87%E7%8A%B6%EF%BC%88%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%8B4%E3%81%A4%E3%81%AE%E7%8F%BE%E3%82%8C%E6%96%B9%EF%BC%89\"><\/span><strong>2. \u4e3b\u306a\u75c7\u72b6\uff08\u6b20\u5931\u306e\u7bc4\u56f2\u306b\u3088\u3063\u3066\u5909\u308f\u308b4\u3064\u306e\u73fe\u308c\u65b9\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u75c7\u72b6\u306f\u3001\u814e\u81d3\u30fb\u8074\u899a\u30fb\u5e73\u6ed1\u7b4b\u30fb\u767a\u9054\u3068\u3044\u30464\u3064\u306e\u9818\u57df\u306b\u5206\u3051\u3066\u8003\u3048\u308b\u3068\u7406\u89e3\u3057\u3084\u3059\u304f\u306a\u308a\u307e\u3059\u3002<\/strong>\u6b20\u3051\u3066\u3044\u308b\u907a\u4f1d\u5b50\u306e\u7bc4\u56f2\u304c\u5e83\u3044\u307b\u3069\u3001\u95a2\u308f\u308b\u9818\u57df\u304c\u5897\u3048\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=\"%E2%91%A0_%E8%85%8E%E8%87%93%E3%81%AE%E7%97%87%E7%8A%B6%EF%BC%88%E3%82%A2%E3%83%AB%E3%83%9D%E3%83%BC%E3%83%88%E7%97%87%E5%80%99%E7%BE%A4%E3%81%AE%E8%A6%81%E7%B4%A0%EF%BC%89\"><\/span><strong>\u2460 \u814e\u81d3\u306e\u75c7\u72b6\uff08\u30a2\u30eb\u30dd\u30fc\u30c8\u75c7\u5019\u7fa4\u306e\u8981\u7d20\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6700\u3082\u6ce8\u610f\u6df1\u3044\u7ba1\u7406\u304c\u5fc5\u8981\u306a\u306e\u304c\u814e\u81d3\u3067\u3059\u3002COL4A5\u907a\u4f1d\u5b50\u304c\u62c5\u3046IV\u578b\u30b3\u30e9\u30fc\u30b2\u30f3\u304c\u5931\u308f\u308c\u308b\u3053\u3068\u3067\u3001\u6b21\u306e\u75c7\u72b6\u304c\u73fe\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8840\u5c3f\uff08\u3051\u3064\u306b\u3087\u3046\uff09<\/strong>\uff1a\u8089\u773c\u3067\u308f\u304b\u308b\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u9855\u5fae\u93e1\u3067\u306a\u3044\u3068\u308f\u304b\u3089\u306a\u3044\u30ec\u30d9\u30eb\u306e\u3053\u3068\u304c\u591a\u304f\u3001\u5e7c\u5c11\u671f\u304b\u3089\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30bf\u30f3\u30d1\u30af\u5c3f<\/strong>\uff1a\u814e\u81d3\u306e\u30d5\u30a3\u30eb\u30bf\u30fc\u6a5f\u80fd\u304c\u4f4e\u4e0b\u3057\u3001\u672c\u6765\u5fc5\u8981\u306a\u30bf\u30f3\u30d1\u30af\u8cea\u304c\u5c3f\u306b\u6f0f\u308c\u51fa\u3066\u3057\u307e\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u814e\u6a5f\u80fd\u306e\u4f4e\u4e0b<\/strong>\uff1a\u5e74\u9f62\u3068\u3068\u3082\u306b\u5f90\u3005\u306b\u9032\u884c\u3057\u3001\u5c06\u6765\u7684\u306b\u900f\u6790\u3084\u814e\u79fb\u690d\u304c\u5fc5\u8981\u306b\u306a\u308b\u672b\u671f\u814e\u4e0d\u5168\u3078\u3068\u81f3\u308b\u30ea\u30b9\u30af\u304c\u3042\u308a\u307e\u3059\u3002GeneReviews\u3067\u306f\u3001\u3053\u306e\u6b20\u5931\u30bf\u30a4\u30d7\u306e\u814e\u6a5f\u80fd\u4f4e\u4e0b\u306f\u7537\u6027\u3067\u91cd\u304f\u3001\u5973\u6027\u3067\u306f\u8efd\u3044\u50be\u5411\u304c\u3042\u308b\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A1_%E8%81%B4%E8%A6%9A%E3%83%BB%E7%9C%BC%E3%81%AE%E7%97%87%E7%8A%B6\"><\/span><strong>\u2461 \u8074\u899a\u30fb\u773c\u306e\u75c7\u72b6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u97f3\u3092\u611f\u3058\u53d6\u308b\u795e\u7d4c\u7cfb\u306e\u96e3\u8074\uff08\u611f\u97f3\u96e3\u8074\uff09\u304c\u3001\u5b66\u7ae5\u671f\u524d\u5f8c\u304b\u3089\u5f90\u3005\u306b\u9032\u884c\u3059\u308b\u5f62\u3067\u73fe\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3042\u308f\u305b\u3066\u3001\u524d\u773c\u90e8\u5186\u9310\u6c34\u6676\u4f53\u30fb\u767d\u5185\u969c\u30fb\u7db2\u819c\u306e\u7570\u5e38\u306a\u3069\u773c\u306e\u75c7\u72b6\u3092\u4f34\u3046\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A2_%E5%B9%B3%E6%BB%91%E7%AD%8B%EF%BC%88%E3%81%B8%E3%81%84%E3%81%8B%E3%81%A4%E3%81%8D%E3%82%93%EF%BC%89%E3%81%AE%E7%97%87%E7%8A%B6%EF%BC%88%E3%81%B3%E3%81%BE%E3%82%93%E6%80%A7%E5%B9%B3%E6%BB%91%E7%AD%8B%E8%85%AB%E7%97%87%EF%BC%89\"><\/span><strong>\u2462 \u5e73\u6ed1\u7b4b\uff08\u3078\u3044\u304b\u3064\u304d\u3093\uff09\u306e\u75c7\u72b6\uff08\u3073\u307e\u3093\u6027\u5e73\u6ed1\u7b4b\u816b\u75c7\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>COL4A5\u3068COL4A6\u306e\u4e21\u65b9\u304c\u6b20\u5931\u3057\u305f\u5834\u5408\u306b\u898b\u3089\u308c\u308b\u7279\u5fb4\u7684\u306a\u75c7\u72b6\u3067\u3059\u3002GeneReviews\u306f\u3001\u3053\u306e\u30bf\u30a4\u30d7\u306e\u5e73\u6ed1\u7b4b\u816b\u75c7\u306f\u7537\u5973\u3068\u3082\u306b\u307b\u307c\u78ba\u5b9f\u306b\uff08\u9ad8\u3044\u6d78\u900f\u7387\u3067\uff09\u767a\u75c7\u3059\u308b\u3068\u8aac\u660e\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u98df\u9053\u306e\u5e73\u6ed1\u7b4b\u816b<\/strong>\uff1a\u98df\u9053\u306e\u7b4b\u8089\u304c\u539a\u304f\u306a\u308a\u826f\u6027\u306e\u816b\u760d\u304c\u3067\u304d\u307e\u3059\u3002\u98f2\u307f\u8fbc\u307f\u306b\u304f\u3055\uff08\u56a5\u4e0b\u969c\u5bb3\uff09\u3084\u98df\u5f8c\u306e\u5614\u5410\u3001\u80f8\u3084\u3051\u3092\u4f34\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6c17\u7ba1\u30fb\u6c17\u7ba1\u652f\u3078\u306e\u5f71\u97ff<\/strong>\uff1a\u816b\u760d\u304c\u5927\u304d\u304f\u306a\u308b\u3068\u6c17\u9053\u3092\u5727\u8feb\u3057\u3001\u54b3\u3084\u547c\u5438\u306e\u3057\u306b\u304f\u3055\u3001\u7e70\u308a\u8fd4\u3059\u80ba\u708e\u306b\u3064\u306a\u304c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5973\u6027\u5668\u306e\u5e73\u6ed1\u7b4b\u816b<\/strong>\uff1a\u5973\u6027\u306e\u5834\u5408\u3001\u5b50\u5bae\u7b4b\u816b\u306a\u3069\u304c\u591a\u767a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A3_%E6%AC%A0%E5%A4%B1%E7%AF%84%E5%9B%B2%E3%81%8C%E5%BA%83%E3%81%84%E5%A0%B4%E5%90%88%EF%BC%88AMME_complex%EF%BC%89\"><\/span><strong>\u2463 \u6b20\u5931\u7bc4\u56f2\u304c\u5e83\u3044\u5834\u5408\uff08AMME complex\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6b20\u5931\u7bc4\u56f2\u304cAMMECR1\u907a\u4f1d\u5b50\u307e\u3067\u53ca\u3076\u5834\u5408\u3001\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u75c7\u72b6\u3092\u4f34\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u982d\u6587\u5b57\u3092\u3068\u3063\u3066\u300cAMME complex\uff08\u30a2\u30e1\u30fb\u30b3\u30f3\u30d7\u30ec\u30c3\u30af\u30b9\uff09\u300d\u3068\u547c\u3070\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u767a\u9054\u306e\u9045\u308c\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/intellectual-disability-risk-pregnancy\/\">\u77e5\u7684\u969c\u5bb3<\/a><\/strong>\uff1a\u8a00\u8449\u306e\u9045\u308c\u3084\u5b66\u7fd2\u9762\u3067\u306e\u56f0\u96e3\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4e2d\u9854\u9762\u4f4e\u5f62\u6210<\/strong>\uff1a\u9854\u306e\u4e2d\u592e\u90e8\u304c\u5e73\u5766\u306b\u306a\u308b\u306a\u3069\u306e\u7279\u5fb4\u3092\u4f34\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6955\u5186\u8d64\u8840\u7403\u75c7\uff08\u3060\u3048\u3093\u305b\u3063\u3051\u3063\u304d\u3085\u3046\u3057\u3087\u3046\uff09<\/strong>\uff1a\u8d64\u8840\u7403\u306e\u5f62\u304c\u6955\u5186\u5f62\u306b\u306a\u308b\u8840\u6db2\u306e\u7279\u5fb4\u3067\u3059\u3002\u3053\u308c\u81ea\u4f53\u304c\u91cd\u3044\u8ca7\u8840\u3092\u8d77\u3053\u3059\u3053\u3068\u306f\u901a\u5e38\u307e\u308c\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u624b\u8db3\u306e\u4f4e\u8eab\u9577\u3092\u4f34\u3046\u5831\u544a\u3082\u3042\u308a\u307e\u3059\u3002\u75c7\u72b6\u306e\u7d44\u307f\u5408\u308f\u305b\u3082\u91cd\u3055\u3082\u4e00\u4eba\u3072\u3068\u308a\u9055\u3046\u305f\u3081\u3001\u300c\u3053\u306e\u75c5\u6c17\u306a\u3089\u5fc5\u305a\u3053\u3046\u306a\u308b\u300d\u3068\u3044\u3046\u6c7a\u307e\u3063\u305f\u7d4c\u904e\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E5%8E%9F%E5%9B%A0%E3%81%A8%E9%81%BA%E4%BC%9D%E3%81%AE%E4%BB%95%E7%B5%84%E3%81%BF%EF%BC%88X%E9%80%A3%E9%8E%96%E6%80%A7%E9%81%BA%E4%BC%9D%EF%BC%89\"><\/span><strong>3. \u539f\u56e0\u3068\u907a\u4f1d\u306e\u4ed5\u7d44\u307f\uff08X\u9023\u9396\u6027\u907a\u4f1d\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u3053\u306e\u75c5\u6c17\u306fX\u67d3\u8272\u4f53\u4e0a\u306e\u907a\u4f1d\u5b50\u6b20\u5931\u304c\u539f\u56e0\u306e\u305f\u3081\u3001\u7537\u6027\u3068\u5973\u6027\u3067\u75c7\u72b6\u306e\u51fa\u65b9\u304c\u5927\u304d\u304f\u7570\u306a\u308a\u307e\u3059\u3002<\/strong><\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%94%B7%E5%A5%B3%E3%81%A7%E7%97%87%E7%8A%B6%E3%81%AE%E9%87%8D%E3%81%95%E3%81%8C%E5%A4%89%E3%82%8F%E3%82%8B%E7%90%86%E7%94%B1\"><\/span><strong>\u7537\u5973\u3067\u75c7\u72b6\u306e\u91cd\u3055\u304c\u5909\u308f\u308b\u7406\u7531<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u7537\u6027\u306fX\u67d3\u8272\u4f53\u30921\u672c\u3057\u304b\u6301\u305f\u306a\u3044\u305f\u3081\u3001\u305d\u306e1\u672c\u306b\u6b20\u5931\u304c\u3042\u308b\u3068\u88dc\u3046\u907a\u4f1d\u5b50\u304c\u306a\u304f\u3001\u75c7\u72b6\u304c\u306f\u3063\u304d\u308a\u73fe\u308c\u3084\u3059\u304f\u306a\u308a\u307e\u3059\u3002\u5973\u6027\u306fX\u67d3\u8272\u4f53\u30922\u672c\u6301\u3064\u305f\u3081\u3001\u3082\u3046\u7247\u65b9\u306e\u5065\u5eb7\u306aX\u67d3\u8272\u4f53\u304c\u6a5f\u80fd\u3092\u88dc\u3044\u3001\u75c7\u72b6\u304c\u51fa\u306a\u3044\u304b\u8efd\u5ea6\u3067\u6e08\u3080\u3053\u3068\u304c\u591a\u3044\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u305f\u3060\u3057\u500b\u4eba\u5dee\u304c\u3042\u308a\u3001\u7537\u6027\u3068\u540c\u7a0b\u5ea6\u306e\u75c7\u72b6\u304c\u51fa\u308b\u5973\u6027\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4e00\u65b9\u3067\u3001\u3073\u307e\u3093\u6027\u5e73\u6ed1\u7b4b\u816b\u75c7\u306b\u3064\u3044\u3066\u306f\u3001GeneReviews\u306f\u7537\u5973\u3068\u3082\u9ad8\u3044\u78ba\u7387\u3067\u767a\u75c7\u3059\u308b\u3068\u5831\u544a\u3057\u3066\u304a\u308a\u3001\u814e\u81d3\u306e\u75c7\u72b6\u307b\u3069\u7537\u5973\u5dee\u304c\u306f\u3063\u304d\u308a\u3057\u306a\u3044\u70b9\u304c\u7279\u5fb4\u3067\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%E6%96%B0%E7%94%9F%E7%AA%81%E7%84%B6%E5%A4%89%E7%95%B0%EF%BC%89%E3%81%A8%E5%AE%B6%E6%97%8F%E5%86%85%E4%BC%9D%E9%81%94\"><\/span><strong>\u30c7\u30ce\u30dc\uff08\u65b0\u751f\u7a81\u7136\u5909\u7570\uff09\u3068\u5bb6\u65cf\u5185\u4f1d\u9054<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306f\u3001\u4ee5\u4e0b\u306e2\u3064\u306e\u30d1\u30bf\u30fc\u30f3\u3067\u767a\u751f\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>\u89aa\u304b\u3089\u306e\u907a\u4f1d<\/strong>\uff1a\u304a\u6bcd\u3055\u307e\u304c\u4fdd\u56e0\u8005\u3067\u3042\u308a\u3001\u305d\u306eX\u67d3\u8272\u4f53\u3092\u304a\u5b50\u3055\u307e\u304c\u53d7\u3051\u7d99\u3050\u30b1\u30fc\u30b9\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30c7\u30ce\u30dc\uff08\u5076\u767a\u7684\u306a\u65b0\u751f\u7a81\u7136\u5909\u7570\uff09<\/strong>\uff1a\u3054\u4e21\u89aa\u306e\u907a\u4f1d\u5b50\u306b\u306f\u5909\u5316\u304c\u306a\u304f\u3001\u53d7\u7cbe\u5375\u304c\u3067\u304d\u308b\u904e\u7a0b\u3067\u5076\u7136\u305d\u306e\u90e8\u5206\u304c\u6b20\u3051\u3066\u3057\u307e\u3046\u30b1\u30fc\u30b9\u3067\u3059\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><\/li>\n<\/ol>\n\n\n\n<p>\u300c\u89aa\u306e\u305b\u3044\u3067\u75c5\u6c17\u306b\u306a\u3063\u305f\u300d\u3068\u3054\u81ea\u8eab\u3092\u8cac\u3081\u308b\u3054\u5bb6\u65cf\u3082\u3044\u3089\u3063\u3057\u3083\u3044\u307e\u3059\u304c\u3001\u907a\u4f1d\u5b50\u306e\u5909\u5316\u306f\u8ab0\u306b\u3067\u3082\u8d77\u3053\u308a\u3046\u308b\u81ea\u7136\u306a\u73fe\u8c61\u3067\u3042\u308a\u3001\u8ab0\u304b\u306e\u8cac\u4efb\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u6b21\u306e\u304a\u5b50\u3055\u307e\u3078\u306e\u5f71\u97ff\u3092\u8003\u3048\u308b\u969b\u306f\u3001\u3054\u4e21\u89aa\u306e\u67d3\u8272\u4f53<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u691c\u67fb\u3092\u884c\u3046\u3053\u3068\u3067\u3001\u30c7\u30ce\u30dc\u304b\u5bb6\u65cf\u5185\u4f1d\u9054\u304b\u3092\u898b\u6975\u3081\u308b\u624b\u304c\u304b\u308a\u306b\u306a\u308a\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=\"428\" src=\"\/nipt\/wp-content\/uploads\/2026\/01\/3572735_s.webp\" alt=\"\u907a\u4f1d\u306e\u4ed5\u7d44\u307f\u306b\u3064\u3044\u3066\u533b\u5e2b\u304b\u3089\u8aac\u660e\u3092\u53d7\u3051\u308b\u5bb6\u65cf\u306e\u30a4\u30e1\u30fc\u30b8\" class=\"wp-image-121578\"\/><\/figure><\/div>\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%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>4. \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>\u67d3\u8272\u4f53Xq22.3\u6b20\u5931\u75c7\u5019\u7fa4\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\/nipt-chromosome-abnormality\/\">NIPT\u3067\u308f\u304b\u308b\u67d3\u8272\u4f53\u7570\u5e38\u306e\u7a2e\u985e\u306b\u3064\u3044\u3066\u306e\u8a18\u4e8b<\/a>\u3067\u89e3\u8aac\u3057\u3066\u3044\u308b\u3068\u304a\u308a\u3001\u5168\u67d3\u8272\u4f53\u306e\u6570\u7684\u7570\u5e38\u3084\u6bd4\u8f03\u7684\u983b\u5ea6\u306e\u9ad8\u3044<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u3092\u5bfe\u8c61\u306b\u542b\u3080\u62e1\u5927\u30d7\u30e9\u30f3\u3082\u3042\u308a\u307e\u3059\u304c\u3001Xq22.3\u9818\u57df\u306eCOL4A5\u30fbCOL4A6\u30fbAMMECR1\u306b\u307e\u305f\u304c\u308b\u6b20\u5931\u306f\u5831\u544a\u4f8b\u304c\u9650\u3089\u308c\u308b\u3054\u304f\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<\/p>\n\n\n\n<p>\u79c1\u305f\u3061\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30afNIPT\u306b\u3082\u3001\u300c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u307e\u3067\u8abf\u3079\u308b\u691c\u67fb\u3067\u3001\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\u3001<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\u3059\u3002<\/p>\n\n\n\n<p>NIPT\u3067\u967d\u6027\u6240\u898b\u304c\u51fa\u305f\u5834\u5408\u306e\u6d41\u308c\u306f\u6b21\u306e\u901a\u308a\u3067\u3059\u3002\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\u3057\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=\"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>\u8a3a\u65ad\u3092\u78ba\u5b9a\u3055\u305b\u308b\u305f\u3081\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\u3092\u4e2d\u5fc3\u3068\u3057\u305f\u8907\u6570\u306e\u691c\u67fb\u3092\u7d44\u307f\u5408\u308f\u305b\u307e\u3059\u3002<\/strong><\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A0_%E3%83%9E%E3%82%A4%E3%82%AF%E3%83%AD%E3%82%A2%E3%83%AC%E3%82%A4%E6%9F%93%E8%89%B2%E4%BD%93%E6%A4%9C%E6%9F%BB%EF%BC%88CMA%EF%BC%89\"><\/span><strong>\u2460 \u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u901a\u5e38\u306e\u67d3\u8272\u4f53\u691c\u67fb\uff08G\u30d0\u30f3\u30c9\u6cd5\uff09\u3067\u306f\u898b\u3064\u3051\u3089\u308c\u306a\u3044\u5fae\u7d30\u306a\u6b20\u5931\u3092\u691c\u51fa\u3067\u304d\u308b\u691c\u67fb\u3067\u3059\u3002Xq22.3\u9818\u57df\u306e\u3069\u3053\u304b\u3089\u3069\u3053\u307e\u3067\u304c\u6b20\u3051\u3066\u3044\u308b\u304b\u3001COL4A5\u30fbCOL4A6\u30fbAMMECR1\u306e\u3069\u308c\u304c\u542b\u307e\u308c\u308b\u304b\u3092\u6b63\u78ba\u306b\u8abf\u3079\u308b\u3053\u3068\u304c\u3067\u304d\u3001\u78ba\u5b9a\u8a3a\u65ad\u306e\u30b4\u30fc\u30eb\u30c9\u30b9\u30bf\u30f3\u30c0\u30fc\u30c9\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A1_%E5%B0%BF%E6%A4%9C%E6%9F%BB%E3%83%BB%E8%A1%80%E6%B6%B2%E6%A4%9C%E6%9F%BB\"><\/span><strong>\u2461 \u5c3f\u691c\u67fb\u30fb\u8840\u6db2\u691c\u67fb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5c3f\u691c\u67fb<\/strong>\uff1a\u76ee\u306b\u898b\u3048\u306a\u3044\u8840\u5c3f\u3084\u30bf\u30f3\u30d1\u30af\u5c3f\u304c\u306a\u3044\u304b\u3092\u30c1\u30a7\u30c3\u30af\u3059\u308b\u3001\u65e9\u671f\u767a\u898b\u306e\u305f\u3081\u306e\u57fa\u672c\u7684\u306a\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8840\u6db2\u691c\u67fb<\/strong>\uff1a\u814e\u6a5f\u80fd\uff08\u30af\u30ec\u30a2\u30c1\u30cb\u30f3\u5024\u306a\u3069\uff09\u306e\u72b6\u614b\u3084\u3001\u6955\u5186\u8d64\u8840\u7403\u306e\u6709\u7121\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A2_%E7%94%BB%E5%83%8F%E6%A4%9C%E6%9F%BB%E3%83%BB%E7%B5%84%E7%B9%94%E7%94%9F%E6%A4%9C\"><\/span><strong>\u2462 \u753b\u50cf\u691c\u67fb\u30fb\u7d44\u7e54\u751f\u691c<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8d85\u97f3\u6ce2\uff08\u30a8\u30b3\u30fc\uff09\u30fbCT\u30fbMRI\u3067\u3001\u814e\u81d3\u306e\u5f62\u3084\u98df\u9053\u30fb\u6c17\u7ba1\u652f\u306e\u5e73\u6ed1\u7b4b\u816b\u306e\u6709\u7121\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u76ae\u819a\u3084\u814e\u81d3\u306e\u7d44\u7e54\u3092\u5c11\u91cf\u63a1\u53d6\u3057\u3001IV\u578b\u30b3\u30e9\u30fc\u30b2\u30f3\u03b15\u9396\u304c\u7d44\u7e54\u5185\u306b\u5b58\u5728\u3059\u308b\u304b\u3092\u8abf\u3079\u308b\u751f\u691c\u304c\u3001\u30a2\u30eb\u30dd\u30fc\u30c8\u75c7\u5019\u7fa4\u306e\u78ba\u5b9a\u8a3a\u65ad\u306b\u5f79\u7acb\u3061\u307e\u3059\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"6_%E6%B2%BB%E7%99%82%E3%81%A8%E7%AE%A1%E7%90%86\"><\/span><strong>6. \u6cbb\u7642\u3068\u7ba1\u7406<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u6b20\u3051\u3066\u3044\u308b\u907a\u4f1d\u5b50\u305d\u306e\u3082\u306e\u3092\u4fee\u5fa9\u3059\u308b\u6cbb\u7642\u6cd5\u306f\u307e\u3060\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u304c\u3001\u75c7\u72b6\u3092\u548c\u3089\u3052\u9032\u884c\u3092\u9045\u3089\u305b\u308b\u5bfe\u75c7\u7642\u6cd5\u3068\u5b9a\u671f\u7ba1\u7406\u304c\u975e\u5e38\u306b\u91cd\u8981\u3067\u3059\u3002<\/strong><\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%85%8E%E8%87%93%E3%81%AE%E4%BF%9D%E8%AD%B7%EF%BC%88%E6%9C%80%E3%82%82%E9%87%8D%E8%A6%81%EF%BC%89\"><\/span><strong>\u814e\u81d3\u306e\u4fdd\u8b77\uff08\u6700\u3082\u91cd\u8981\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u85ac\u7269\u7642\u6cd5<\/strong>\uff1aACE\u963b\u5bb3\u85ac\u3084ARB\u3068\u3044\u3046\u8840\u5727\u306e\u85ac\u304c\u3001\u814e\u81d3\u3078\u306e\u8ca0\u62c5\u3068\u30bf\u30f3\u30d1\u30af\u5c3f\u3092\u6e1b\u3089\u3057\u3001\u814e\u6a5f\u80fd\u60aa\u5316\u306e\u30b9\u30d4\u30fc\u30c9\u3092\u9045\u3089\u305b\u308b\u76ee\u7684\u3067\u4f7f\u308f\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5b9a\u671f\u7684\u306a\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0<\/strong>\uff1a\u6570\u304b\u6708\u306b\u4e00\u5ea6\u306e\u5c3f\u691c\u67fb\u3068\u8840\u6db2\u691c\u67fb\u3067\u3001\u814e\u81d3\u306e\u72b6\u614b\u3092\u7d99\u7d9a\u7684\u306b\u628a\u63e1\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u814e\u4ee3\u66ff\u7642\u6cd5<\/strong>\uff1a\u814e\u6a5f\u80fd\u304c\u8457\u3057\u304f\u4f4e\u4e0b\u3057\u305f\u5834\u5408\u306f\u900f\u6790\u7642\u6cd5\u3084\u814e\u79fb\u690d\u304c\u884c\u308f\u308c\u307e\u3059\u3002\u30a2\u30eb\u30dd\u30fc\u30c8\u75c7\u5019\u7fa4\u306b\u8d77\u56e0\u3059\u308b\u814e\u79fb\u690d\u306e\u6210\u7e3e\u306f\u3001\u4e00\u822c\u7684\u306b\u826f\u597d\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%81%B4%E8%A6%9A%E3%81%AE%E3%82%B5%E3%83%9D%E3%83%BC%E3%83%88\"><\/span><strong>\u8074\u899a\u306e\u30b5\u30dd\u30fc\u30c8<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5b9a\u671f\u7684\u306a\u8074\u529b\u691c\u67fb\u3092\u75c5\u9662\u3067\u884c\u3044\u3001\u96e3\u8074\u304c\u751f\u6d3b\u3084\u5b66\u7fd2\u306b\u5f71\u97ff\u3059\u308b\u5834\u5408\u306f\u3001\u9069\u5207\u306a\u30bf\u30a4\u30df\u30f3\u30b0\u3067\u88dc\u8074\u5668\u3092\u5c0e\u5165\u3057\u307e\u3059\u3002\u805e\u3053\u3048\u306e\u30b1\u30a2\u306f\u8a00\u8a9e\u767a\u9054\u306e\u305f\u3081\u306b\u3082\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%B9%B3%E6%BB%91%E7%AD%8B%E8%85%AB%EF%BC%88%E9%A3%9F%E9%81%93%E3%81%AA%E3%81%A9%EF%BC%89%E3%81%B8%E3%81%AE%E5%AF%BE%E5%BF%9C\"><\/span><strong>\u5e73\u6ed1\u7b4b\u816b\uff08\u98df\u9053\u306a\u3069\uff09\u3078\u306e\u5bfe\u5fdc<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u75c7\u72b6\u304c\u306a\u3051\u308c\u3070\u5b9a\u671f\u7684\u306a\u753b\u50cf\u691c\u67fb\u3067\u7d4c\u904e\u89b3\u5bdf\u3092\u884c\u3044\u3001\u56a5\u4e0b\u969c\u5bb3\u3084\u547c\u5438\u56f0\u96e3\u304c\u5f37\u3044\u5834\u5408\u306f\u624b\u8853\u3067\u816b\u760d\u3092\u53d6\u308a\u9664\u304f\u3053\u3068\u304c\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%83%BB%E7%99%82%E8%82%B2%E7%9A%84%E3%82%B5%E3%83%9D%E3%83%BC%E3%83%88\"><\/span><strong>\u767a\u9054\u30fb\u7642\u80b2\u7684\u30b5\u30dd\u30fc\u30c8<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u767a\u9054\u306e\u9045\u308c\u304c\u898b\u3089\u308c\u308b\u5834\u5408\u306f\u3001\u7406\u5b66\u7642\u6cd5\u30fb\u4f5c\u696d\u7642\u6cd5\u30fb\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\u306a\u3069\u3001\u305d\u308c\u305e\u308c\u306e\u7279\u6027\u306b\u5408\u308f\u305b\u305f\u7642\u80b2\u3092\u884c\u3044\u307e\u3059\u3002\u304a\u5b50\u3055\u307e\u306e\u300c\u3067\u304d\u308b\u3053\u3068\u300d\u3092\u4f38\u3070\u3057\u3001\u751f\u6d3b\u3057\u3084\u3059\u3044\u74b0\u5883\u3092\u6574\u3048\u308b\u3053\u3068\u304c\u76ee\u6a19\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u79c1\u81ea\u8eab\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u73fe\u5834\u3067\u3001\u3053\u3046\u3057\u305f\u5e0c\u5c11\u306a\u67d3\u8272\u4f53\u75be\u60a3\u306e\u3054\u5bb6\u65cf\u304b\u3089\u300c\u814e\u81d3\u3068\u767a\u9054\u3001\u3069\u3061\u3089\u3092\u512a\u5148\u3057\u3066\u76f8\u8ac7\u3059\u308c\u3070\u3044\u3044\u306e\u304b\u300d\u3068\u3044\u3046\u304a\u60a9\u307f\u3092\u4f3a\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u7b54\u3048\u306f\u4e00\u3064\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u5c0f\u5150\u79d1\uff08\u814e\u81d3\u5c02\u9580\u533b\uff09\u30fb\u8033\u9f3b\u79d1\u30fb\u907a\u4f1d\u8a3a\u7642\u79d1\u304c\u9023\u643a\u3059\u308b\u30c1\u30fc\u30e0\u533b\u7642\u306e\u7a93\u53e3\u3092\u65e9\u3081\u306b\u898b\u3064\u3051\u308b\u3053\u3068\u304c\u3001\u9053\u7b4b\u3092\u7acb\u3066\u308b\u52a9\u3051\u306b\u306a\u308b\u3068\u611f\u3058\u3066\u3044\u307e\u3059\u3002<\/p>\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%EF%BC%9A%E7%97%85%E6%B0%97%E3%81%A8%E3%81%AE%E4%BB%98%E3%81%8D%E5%90%88%E3%81%84%E6%96%B9\"><\/span><strong>7. \u307e\u3068\u3081\uff1a\u75c5\u6c17\u3068\u306e\u4ed8\u304d\u5408\u3044\u65b9<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u67d3\u8272\u4f53Xq22.3\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u3001\u814e\u81d3\u30fb\u8074\u899a\u30fb\u5e73\u6ed1\u7b4b\u3001\u305d\u3057\u3066\u6b20\u5931\u7bc4\u56f2\u306b\u3088\u3063\u3066\u306f\u767a\u9054\u306b\u3082\u5f71\u97ff\u304c\u53ca\u3076\u5168\u8eab\u6027\u306e\u75be\u60a3\u3067\u3059\u3002<\/strong>\u30dd\u30a4\u30f3\u30c8\u3092\u6574\u7406\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>\u65e9\u671f\u767a\u898b\u30fb\u65e9\u671f\u7ba1\u7406\u304c\u9375<\/strong>\uff1a\u814e\u81d3\u306e\u30b1\u30a2\u306f\u65e9\u671f\u306b\u85ac\u7269\u7642\u6cd5\u3092\u59cb\u3081\u308b\u3053\u3068\u3067\u3001\u814e\u4e0d\u5168\u307e\u3067\u306e\u671f\u9593\u3092\u5ef6\u3070\u305b\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5305\u62ec\u7684\u306a\u533b\u7642\u4f53\u5236<\/strong>\uff1a\u5c0f\u5150\u79d1\uff08\u814e\u81d3\u5c02\u9580\u533b\uff09\u3001\u8033\u9f3b\u79d1\u3001\u6d88\u5316\u5668\u79d1\u3001\u907a\u4f1d\u8a3a\u7642\u79d1\u306a\u3069\u3001\u8907\u6570\u306e\u5c02\u9580\u533b\u306b\u3088\u308b\u30c1\u30fc\u30e0\u533b\u7642\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5b9a\u671f\u691c\u8a3a\u3092\u6b20\u304b\u3055\u306a\u3044<\/strong>\uff1a\u75c7\u72b6\u304c\u843d\u3061\u7740\u3044\u3066\u898b\u3048\u3066\u3082\u3001\u4f53\u306e\u4e2d\u306e\u5909\u5316\u3092\u898b\u9003\u3055\u306a\u3044\u305f\u3081\u306b\u901a\u9662\u3092\u7d99\u7d9a\u3059\u308b\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/li>\n<\/ol>\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><strong>\u8a3a\u65ad\u540d\u306f\u3001\u304a\u5b50\u3055\u307e\u306e\u7279\u5fb4\u306e\u4e00\u90e8\u3092\u793a\u3059\u30e9\u30d9\u30eb\u306b\u904e\u304e\u305a\u3001\u6210\u9577\u305d\u306e\u3082\u306e\u3092\u6c7a\u3081\u308b\u3082\u306e\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/strong><\/p>\n\n\n\n<p>\u5927\u5207\u306a\u304a\u5b50\u3055\u307e\u306b\u300c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosomal-abnormality\/\">\u67d3\u8272\u4f53\u7570\u5e38<\/a>\u300d\u300c\u907a\u4f1d\u6027\u75be\u60a3\u300d\u3068\u3044\u3046\u8a3a\u65ad\u304c\u3064\u3044\u305f\u3068\u304d\u3001\u3054\u5bb6\u65cf\u304c\u611f\u3058\u308b\u30b7\u30e7\u30c3\u30af\u3084\u4e0d\u5b89\u306f\u8a08\u308a\u77e5\u308c\u307e\u305b\u3093\u3002\u300c\u5c06\u6765\u3069\u3046\u306a\u308b\u306e\u3060\u308d\u3046\u300d\u300c\u79c1\u306e\u305b\u3044\u3067\u306f\u306a\u3044\u304b\u300d\u3068\u3001\u7b54\u3048\u306e\u306a\u3044\u554f\u3044\u306b\u82e6\u3057\u307e\u308c\u308b\u3053\u3068\u3082\u3042\u308b\u3067\u3057\u3087\u3046\u3002\u305d\u308c\u3067\u3082\u3001Xq22.3\u6b20\u5931\u75c7\u5019\u7fa4\u3067\u3042\u3063\u3066\u3082\u3001\u5143\u6c17\u306b\u5b66\u6821\u3078\u901a\u3044\u3001\u8da3\u5473\u3092\u697d\u3057\u307f\u3001\u5927\u4eba\u306b\u306a\u3063\u3066\u793e\u4f1a\u3067\u6d3b\u8e8d\u3055\u308c\u3066\u3044\u308b\u65b9\u306f\u305f\u304f\u3055\u3093\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u533b\u7642\u306f\u65e5\u9032\u6708\u6b69\u3067\u9032\u6b69\u3057\u3066\u3044\u307e\u3059\u3002\u7279\u306b\u814e\u81d3\u306e\u4fdd\u8b77\u6cbb\u7642\u306f\u3001\u4ee5\u524d\u306b\u6bd4\u3079\u3066\u6cbb\u7642\u6210\u7e3e\u304c\u5411\u4e0a\u3057\u3066\u3044\u307e\u3059\u3002\u4e3b\u6cbb\u533b\u3084\u770b\u8b77\u5e2b\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u306f\u3001\u3054\u5bb6\u65cf\u306e\u5f37\u3044\u5473\u65b9\u3067\u3059\u3002\u5206\u304b\u3089\u306a\u3044\u3053\u3068\u3001\u4e0d\u5b89\u306a\u3053\u3068\u306f\u9060\u616e\u306a\u304f\u8cea\u554f\u3057\u3066\u304f\u3060\u3055\u3044\u3002\u3088\u308a\u5c02\u9580\u7684\u306a\u76f8\u8ac7\u5148\u3068\u3057\u3066<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/obgyn\/\">\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306b\u3064\u3044\u3066\u306e\u89e3\u8aac\u30da\u30fc\u30b8<\/a>\u3082\u3042\u308f\u305b\u3066\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<p>\u79c1\u81ea\u8eab\u3001\u3053\u3046\u3057\u305f\u5e0c\u5c11\u306a\u67d3\u8272\u4f53\u75be\u60a3\u306b\u95a2\u3059\u308b\u3054\u76f8\u8ac7\u3092\u4f3a\u3046\u4e2d\u3067\u3001\u75c5\u540d\u306e\u73cd\u3057\u3055\u306b\u53cd\u3057\u3066\u300c\u805e\u3051\u308b\u76f8\u624b\u304c\u8eab\u8fd1\u306b\u3044\u306a\u3044\u300d\u3068\u3044\u3046\u5b64\u72ec\u611f\u306e\u5927\u304d\u3055\u3092\u611f\u3058\u3066\u304d\u307e\u3057\u305f\u3002\u3060\u304b\u3089\u3053\u305d\u3001\u516c\u7684\u6a5f\u95a2\u306e\u4e00\u6b21\u60c5\u5831\u306b\u3082\u3068\u3065\u304f\u89e3\u8aac\u3092\u6b8b\u3057\u3066\u304a\u304f\u610f\u7fa9\u304c\u3042\u308b\u3068\u8003\u3048\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5e0c\u5c11\u306a\u75c5\u6c17\u3067\u3059\u304c\u3001\u60a3\u8005\u4f1a\u3084\u89aa\u306e\u4f1a\u3092\u901a\u3058\u3066\u3001\u540c\u3058\u3088\u3046\u306a\u7d4c\u9a13\u3092\u6301\u3064\u5bb6\u65cf\u3068\u3064\u306a\u304c\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u5148\u8f29\u5bb6\u65cf\u306e\u7d4c\u9a13\u8ac7\u306f\u3001\u6642\u306b\u5c02\u9580\u66f8\u4ee5\u4e0a\u306e\u77e5\u6075\u3068\u52c7\u6c17\u3092\u304f\u308c\u307e\u3059\u3002\u3053\u306e\u89e3\u8aac\u30da\u30fc\u30b8\u304c\u3001\u3054\u5bb6\u65cf\u306b\u3068\u3063\u3066\u5c11\u3057\u3067\u3082\u9053\u3057\u308b\u3079\u3068\u306a\u308a\u3001\u524d\u5411\u304d\u306a\u4e00\u6b69\u3092\u8e0f\u307f\u51fa\u3059\u52a9\u3051\u306b\u306a\u308c\u3070\u5e78\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u540c\u3058Xq22\u9818\u57df\u306e\u5225\u306e\u6b20\u5931\u7bc4\u56f2\u304c\u6c17\u306b\u306a\u308b\u65b9\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-xq21-deletion-syndrome\/\">\u67d3\u8272\u4f53Xq21\u6b20\u5931\u75c7\u5019\u7fa4\u306b\u3064\u3044\u3066\u306e\u8a18\u4e8b<\/a>\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3068<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u306e\u95a2\u4fc2\u5168\u822c\u304c\u6c17\u306b\u306a\u308b\u65b9\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-beyond-down-syndrome-intellectual-disability\/\">NIPT\u3067\u898b\u3064\u304b\u308b\u77e5\u7684\u969c\u5bb3\u306e\u53ef\u80fd\u6027\u306b\u3064\u3044\u3066\u306e\u8a18\u4e8b<\/a>\u3082\u3042\u308f\u305b\u3066\u3054\u53c2\u7167\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<div class=\"wp-block-buttons is-content-justification-center is-layout-flex wp-container-core-buttons-is-layout-16018d1d wp-block-buttons-is-layout-flex\">\n<div class=\"wp-block-button\"><a class=\"wp-block-button__link wp-element-button\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/line-registration\/\" target=\"_blank\" rel=\"noopener\">LINE\u3067\u7121\u6599\u76f8\u8ac7\u3059\u308b<\/a><\/div>\n<\/div>\n\n\n\n<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=\"%E6%9F%93%E8%89%B2%E4%BD%93Xq223%E6%AC%A0%E5%A4%B1%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>\u67d3\u8272\u4f53Xq22.3\u6b20\u5931\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>X\u67d3\u8272\u4f53\u306e\u9577\u815522.3\u306b\u3042\u308b\u3001COL4A5\u30fbCOL4A6\u3068\u3044\u3046\u96a3\u308a\u5408\u3046\u907a\u4f1d\u5b50\u304c\u540c\u6642\u306b\u6b20\u3051\u308b\u3053\u3068\u3067\u8d77\u3053\u308b\u3001\u975e\u5e38\u306b\u307e\u308c\u306a\u96a3\u63a5\u907a\u4f1d\u5b50\u75c7\u5019\u7fa4\u3067\u3059\u3002\u814e\u81d3\u306e\u75c5\u6c17\uff08\u30a2\u30eb\u30dd\u30fc\u30c8\u75c7\u5019\u7fa4\uff09\u3068\u98df\u9053\u306a\u3069\u306e\u826f\u6027\u816b\u760d\uff08\u3073\u307e\u3093\u6027\u5e73\u6ed1\u7b4b\u816b\u75c7\uff09\u3092\u4e2d\u5fc3\u306b\u3001\u6b20\u5931\u7bc4\u56f2\u304c\u5e83\u3044\u5834\u5408\u306f\u767a\u9054\u306e\u9045\u308c\u306a\u3069\u3092\u4f34\u3046\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E7%97%87%E7%8A%B6%E3%81%8C%E3%81%82%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u3069\u306e\u3088\u3046\u306a\u75c7\u72b6\u304c\u3042\u308a\u307e\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8840\u5c3f\u30fb\u30bf\u30f3\u30d1\u30af\u5c3f\u30fb\u814e\u6a5f\u80fd\u4f4e\u4e0b\u3068\u3044\u3063\u305f\u814e\u81d3\u306e\u75c7\u72b6\u3001\u611f\u97f3\u96e3\u8074\u3084\u773c\u306e\u7570\u5e38\u3001\u98df\u9053\u30fb\u6c17\u7ba1\u652f\u30fb\u5973\u6027\u5668\u306b\u3067\u304d\u308b\u5e73\u6ed1\u7b4b\u816b\u304c\u4e2d\u5fc3\u3067\u3059\u3002\u6b20\u5931\u7bc4\u56f2\u304cAMMECR1\u907a\u4f1d\u5b50\u307e\u3067\u53ca\u3076\u5834\u5408\u306f\u3001\u767a\u9054\u306e\u9045\u308c\u3084\u4e2d\u9854\u9762\u4f4e\u5f62\u6210\u3001\u6955\u5186\u8d64\u8840\u7403\u75c7\u3092\u4f34\u3046\u3053\u3068\u304c\u3042\u308a\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>X\u9023\u9396\u6027\u306e\u907a\u4f1d\u5f62\u5f0f\u3067\u3001\u6bcd\u89aa\u304b\u3089\u306e\u907a\u4f1d\u3068\u30c7\u30ce\u30dc\uff08\u5076\u767a\u7684\u306a\u65b0\u751f\u7a81\u7136\u5909\u7570\uff09\u306e\u4e21\u65b9\u306e\u30d1\u30bf\u30fc\u30f3\u304c\u3042\u308a\u307e\u3059\u3002\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\u6b63\u78ba\u306b\u628a\u63e1\u3059\u308b\u306b\u306f\u4e21\u89aa\u306e\u67d3\u8272\u4f53<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u691c\u67fb\u304c\u6709\u7528\u3067\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%93Xq223%E6%AC%A0%E5%A4%B1%E7%97%87%E5%80%99%E7%BE%A4%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>\u67d3\u8272\u4f53Xq22.3\u6b20\u5931\u75c7\u5019\u7fa4\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=\"%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\u901a\u5e38\u306e\u67d3\u8272\u4f53\u691c\u67fb\u3067\u306f\u898b\u3064\u3051\u3089\u308c\u306a\u3044\u5fae\u7d30\u306a\u6b20\u5931\u7bc4\u56f2\u3092\u7279\u5b9a\u3067\u304d\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u5c3f\u691c\u67fb\u30fb\u8840\u6db2\u691c\u67fb\u30fb\u753b\u50cf\u691c\u67fb\u30fb\u7d44\u7e54\u751f\u691c\u3092\u7d44\u307f\u5408\u308f\u305b\u3066\u8a3a\u65ad\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%B2%BB%E7%99%82%E6%B3%95%E3%81%AF%E3%81%82%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6b20\u5931\u3057\u305f\u907a\u4f1d\u5b50\u305d\u306e\u3082\u306e\u3092\u6cbb\u3059\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001ACE\u963b\u5bb3\u85ac\u3084ARB\u306b\u3088\u308b\u814e\u81d3\u306e\u4fdd\u8b77\u3001\u88dc\u8074\u5668\u306b\u3088\u308b\u8074\u899a\u30b5\u30dd\u30fc\u30c8\u3001\u75c7\u72b6\u304c\u5f37\u3044\u5834\u5408\u306e\u5e73\u6ed1\u7b4b\u816b\u306e\u5916\u79d1\u7684\u6cbb\u7642\u3001\u7642\u80b2\u306b\u3088\u308b\u767a\u9054\u652f\u63f4\u3092\u7d44\u307f\u5408\u308f\u305b\u308b\u3053\u3068\u3067\u3001\u304a\u5b50\u3055\u307e\u306e\u6210\u9577\u3092\u5f8c\u62bc\u3057\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u76e3\u4fee\uff1a\u5ca1\u535a\u53f2\uff08\u304a\u304b \u3072\u308d\u3057\uff09<\/strong> \/ \u533b\u7642\u6cd5\u4eba\u793e\u56e3\u798f\u7f8e\u4f1a \u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u7d71\u62ec\u9662\u9577\u30fbLabo Director\u3002\u6176\u61c9\u7fa9\u587e\u5927\u5b66\u533b\u5b66\u90e8\u5352\u696d\u3002\u65e5\u672c\u3068\u30a2\u30e1\u30ea\u30ab\u306e\u533b\u5e2b\u56fd\u5bb6\u8a66\u9a13\u306b\u5408\u683c\u3057\u3001\u533b\u5b66\u535a\u58eb\u3002\u56fd\u5185\u3067\u3082\u6570\u5c11\u306a\u3044\u30e9\u30dc\u30c7\u30a3\u30ec\u30af\u30bf\u30fc\u8cc7\u683c\u3092\u4fdd\u6709\u3057\u3066\u3044\u307e\u3059\u3002\u672c\u8a18\u4e8b\u306f\u533b\u7642\u5e83\u544a\u30ac\u30a4\u30c9\u30e9\u30a4\u30f3\u306b\u914d\u616e\u3057\u3001GeneReviews\u30fbOrphanet\u30fb\u96e3\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc\u306a\u3069\u306e\u516c\u7684\u6a5f\u95a2\u30fb\u5b66\u8853\u60c5\u5831\u3092\u53c2\u7167\u3057\u3066\u4f5c\u6210\u3057\u3066\u3044\u307e\u3059\u3002\u8a18\u8f09\u306e\u983b\u5ea6\u30fb\u75c7\u72b6\u306f\u5831\u544a\u4f8b\u304c\u5c11\u306a\u304f\u6587\u732e\u306b\u3088\u308a\u5e45\u304c\u3042\u308a\u3001\u8a3a\u65ad\u30fb\u6cbb\u7642\u306e\u6700\u7d42\u5224\u65ad\u306f\u62c5\u5f53\u533b\u306b\u3054\u76f8\u8ac7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<p>\u53c2\u8003\u6587\u732e\uff1a<a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4348\" target=\"_blank\" rel=\"noopener\">\u96e3\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc\u300c\u30a2\u30eb\u30dd\u30fc\u30c8\u75c7\u5019\u7fa4\uff08\u6307\u5b9a\u96e3\u75c5218\uff09\u300d<\/a> \/ <a href=\"https:\/\/medlineplus.gov\/genetics\/gene\/col4a5\/\" target=\"_blank\" rel=\"noopener\">MedlinePlus Genetics\u300cCOL4A5 gene\u300d<\/a> \/ <a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC8578185\/\" target=\"_blank\" rel=\"noopener\">Clinical Manifestations of Alport Syndrome-Diffuse Leiomyomatosis Patients With Contiguous Gene Deletions in COL4A6 and COL4A5\uff08PMC\uff09<\/a><\/p>\n\n\n<script type=\"application\/ld+json\">\n{\n  \"@context\": \"https:\/\/schema.org\",\n  \"@type\": \"FAQPage\",\n  \"mainEntity\": [\n    {\n      \"@type\": \"Question\",\n      \"name\": \"\u67d3\u8272\u4f53Xq22.3\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u306f\u3069\u306e\u3088\u3046\u306a\u75c5\u6c17\u3067\u3059\u304b\u3002\",\n      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