{"id":102829,"date":"2025-07-02T10:01:42","date_gmt":"2025-07-02T01:01:42","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=102829"},"modified":"2026-07-29T06:06:53","modified_gmt":"2026-07-28T21:06:53","slug":"primary-ciliary-dyskinesia-dnai2","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-ciliary-dyskinesia-dnai2\/","title":{"rendered":"\u539f\u767a\u6027\u7dda\u6bdb\u904b\u52d5\u4e0d\u5168\u75c7 \u3010DNAI2\u3011"},"content":{"rendered":"\n<p><strong>\u300c\u539f\u767a\u6027\u7dda\u6bdb\u904b\u52d5\u4e0d\u5168\u75c7\u300d\u300cDNAI2\u907a\u4f1d\u5b50\u300d\u3068\u3044\u3046\u8a00\u8449\u3092\u533b\u5e2b\u304b\u3089\u805e\u304d\u3001\u691c\u7d22\u3057\u3066\u3053\u306e\u30da\u30fc\u30b8\u306b\u305f\u3069\u308a\u7740\u3044\u305f\u65b9\u3078\u3002<\/strong><\/p>\n\n\n\n<p><strong>\u7d50\u8ad6\u304b\u3089\u304a\u4f1d\u3048\u3057\u307e\u3059\u3002\u539f\u767a\u6027\u7dda\u6bdb\u6a5f\u80fd\u4e0d\u5168\u75c7\uff08PCD\uff09\u306f\u3001\u7dda\u6bdb\u3068\u3044\u3046\u7d30\u304b\u3044\u6bdb\u306e\u52d5\u304d\u306b\u7570\u5e38\u304c\u751f\u3058\u308b\u907a\u4f1d\u6027\u306e\u75c5\u6c17\u3067\u3059\u3002<\/strong>DNAI2\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306f\u305d\u306e\u539f\u56e0\u306e\u4e00\u3064\u3067\u3001PCD\u5168\u4f53\u306e2%\u672a\u6e80\u3092\u5360\u3081\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u8a18\u4e8b\u3067\u306f\u3001DNAI2\u907a\u4f1d\u5b50\u304c\u539f\u56e0\u3068\u306a\u308bPCD\u306e\u4ed5\u7d44\u307f\u304b\u3089\u3001\u4ee3\u8868\u7684\u306a\u75c7\u72b6\u3001\u8a3a\u65ad\u306e\u6d41\u308c\u3001\u6cbb\u7642\u306e\u73fe\u72b6\u3001\u4ed6\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u3068\u306e\u9055\u3044\u307e\u3067\u3092\u6574\u7406\u3057\u307e\u3057\u305f\u3002NIPT\u3068\u306e\u95a2\u4fc2\u306b\u3064\u3044\u3066\u3082\u3001\u9806\u3092\u8ffd\u3063\u3066\u78ba\u8a8d\u3057\u3066\u3044\u304d\u307e\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<p>\u7c73\u56fd\u56fd\u7acb\u533b\u5b66\u56f3\u66f8\u9928\u306eGeneReviews\u3001\u96e3\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc\u3001\u65e5\u672c\u547c\u5438\u5668\u5b66\u4f1a\u306a\u3069\u3001\u516c\u7684\u30fb\u5b66\u8853\u60c5\u5831\u306b\u3082\u3068\u3065\u3044\u3066\u3044\u307e\u3059\u3002\u60c5\u5831\u306e\u5c11\u306a\u3044\u5e0c\u5c11\u75be\u60a3\u3060\u304b\u3089\u3053\u305d\u3001\u6b63\u78ba\u306a\u4e00\u6b21\u60c5\u5831\u306e\u78ba\u8a8d\u304c\u6b20\u304b\u305b\u307e\u305b\u3093\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>DNAI2\u907a\u4f1d\u5b50\u306e\u5909\u7570\u304cPCD\u3092\u5f15\u304d\u8d77\u3053\u3059\u4ed5\u7d44\u307f\uff08\u5916\u5074\u30c0\u30a4\u30cb\u30f3\u8155\u306e\u7570\u5e38\uff09<\/li>\n<li>\u547c\u5438\u5668\u75c7\u72b6\u30fb\u5185\u81d3\u9006\u4f4d\u30fb\u4e0d\u598a\u306a\u3069\u4ee3\u8868\u7684\u306a\u75c7\u72b6<\/li>\n<li>\u9f3b\u4e00\u9178\u5316\u7a92\u7d20\u6e2c\u5b9a\u3084\u96fb\u5b50\u9855\u5fae\u93e1\u306b\u3088\u308b\u8a3a\u65ad\u306e\u6d41\u308c<\/li>\n<li>DNAH5\u306a\u3069\u4ed6\u306ePCD\u539f\u56e0\u907a\u4f1d\u5b50\u3068\u306e\u9055\u3044<\/li>\n<li>NIPT\u3067DNAI2\u95a2\u9023PCD\u304c\u5206\u304b\u308b\u30b1\u30fc\u30b9\u3068\u5206\u304b\u3089\u306a\u3044\u30b1\u30fc\u30b9<\/li>\n<li>\u6307\u5b9a\u96e3\u75c5\u3068\u3057\u3066\u306e\u533b\u7642\u8cbb\u52a9\u6210\u3084\u76f8\u8ac7\u7a93\u53e3<\/li>\n<\/ul>\n<\/div>\n\n\n\n<p>\u307e\u305a\u3001\u3053\u306e\u75c5\u6c17\u306e\u8981\u70b9\u30921\u679a\u306e\u8868\u306b\u307e\u3068\u3081\u307e\u3057\u305f\u3002\u5168\u4f53\u50cf\u3092\u3064\u304b\u3093\u3067\u304b\u3089\u3001\u8a73\u3057\u3044\u8aac\u660e\u306b\u9032\u3093\u3067\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<figure class=\"wp-table-block\"><table><thead><tr><th>\u9805\u76ee<\/th><th>\u5185\u5bb9<\/th><\/tr><\/thead><tbody><tr><td>\u6b63\u5f0f\u540d\u79f0<\/td><td>DNAI2\u95a2\u9023\u539f\u767a\u6027\u7dda\u6bdb\u6a5f\u80fd\u4e0d\u5168\u75c7\uff08CILD9\u3001OMIM #612444\uff09<\/td><\/tr><tr><td>\u539f\u56e0\u907a\u4f1d\u5b50\u306e\u4f4d\u7f6e<\/td><td>17\u756a\u67d3\u8272\u4f53\u9577\u8155\uff0817q25\uff09\u306eDNAI2\u907a\u4f1d\u5b50<\/td><\/tr><tr><td>\u907a\u4f1d\u5f62\u5f0f<\/td><td>\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\uff08\u52a3\u6027\uff09\u907a\u4f1d<\/td><\/tr><tr><td>PCD\u5168\u4f53\u306b\u5360\u3081\u308b\u5272\u5408<\/td><td>DNAI2\u5909\u7570\u306b\u3088\u308b\u4f8b\u306f\u7d042%\u672a\u6e80<\/td><\/tr><tr><td>\u6307\u5b9a\u96e3\u75c5<\/td><td>\u7dda\u6bdb\u6a5f\u80fd\u4e0d\u5168\u75c7\u5019\u7fa4\u3068\u3057\u3066\u6307\u5b9a\u96e3\u75c5340\u53f7\u3002\u56fd\u5185\u60a3\u8005\u6570\u306f\u7d045,000\u4eba\u672a\u6e80<\/td><\/tr><tr><td>\u4e3b\u306a\u75c7\u72b6<\/td><td>\u65b0\u751f\u5150\u671f\u306e\u547c\u5438\u969c\u5bb3\u3001\u6162\u6027\u526f\u9f3b\u8154\u708e\u30fb\u4e2d\u8033\u708e\u3001\u6c17\u7ba1\u652f\u62e1\u5f35\u75c7\u3001\u5185\u81d3\u9006\u4f4d\uff08\u7d0440\u301c50%\uff09\u3001\u4e0d\u598a<\/td><\/tr><tr><td>NIPT\u3068\u306e\u95a2\u4fc2<\/td><td>\u6a19\u6e96\u7684\u306aNIPT\u30d1\u30cd\u30eb\u306e\u5bfe\u8c61\u5916\u3002\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u306e\u305f\u3081\u901a\u5e38\u306ecfDNA\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3067\u306f\u691c\u51fa\u3067\u304d\u306a\u3044<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_85 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">\u76ee\u6b21<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" height=\"10px\" viewBox=\"0 0 24 24\" version=\"1.2\" baseProfile=\"tiny\"><path d=\"M18.2 9.3l-6.2-6.3-6.2 6.3c-.2.2-.3.4-.3.7s.1.5.3.7c.2.2.4.3.7.3h11c.3 0 .5-.1.7-.3.2-.2.3-.5.3-.7s-.1-.5-.3-.7zM5.8 14.7l6.2 6.3 6.2-6.3c.2-.2.3-.5.3-.7s-.1-.5-.3-.7c-.2-.2-.4-.3-.7-.3h-11c-.3 0-.5.1-.7.3-.2.2-.3.5-.3.7s.1.5.3.7z\"\/><\/svg><\/span><\/span><\/span><\/a><\/span><\/div>\n<nav><ul class='ez-toc-list ez-toc-list-level-1 ' ><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-1\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-ciliary-dyskinesia-dnai2\/#1_%E5%8E%9F%E7%99%BA%E6%80%A7%E7%B7%9A%E6%AF%9B%E6%A9%9F%E8%83%BD%E4%B8%8D%E5%85%A8%E7%97%87%EF%BC%88PCD%EF%BC%89%E3%81%A8%E3%81%AF%E3%80%81%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E7%97%85%E6%B0%97%E3%81%8B\" >1. \u539f\u767a\u6027\u7dda\u6bdb\u6a5f\u80fd\u4e0d\u5168\u75c7\uff08PCD\uff09\u3068\u306f\u3001\u3069\u306e\u3088\u3046\u306a\u75c5\u6c17\u304b<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-ciliary-dyskinesia-dnai2\/#2_DNAI2%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%A8PCD%E3%81%AE%E5%8E%9F%E5%9B%A0%EF%BC%9A%E5%A4%96%E5%81%B4%E3%83%80%E3%82%A4%E3%83%8B%E3%83%B3%E8%85%95%E3%81%AE%E7%95%B0%E5%B8%B8%E3%81%A8%E3%81%84%E3%81%86%E4%BB%95%E7%B5%84%E3%81%BF\" >2. DNAI2\u907a\u4f1d\u5b50\u3068PCD\u306e\u539f\u56e0\uff1a\u5916\u5074\u30c0\u30a4\u30cb\u30f3\u8155\u306e\u7570\u5e38\u3068\u3044\u3046\u4ed5\u7d44\u307f<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-ciliary-dyskinesia-dnai2\/#DNAI2%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%A8%E5%A4%96%E5%81%B4%E3%83%80%E3%82%A4%E3%83%8B%E3%83%B3%E8%85%95%EF%BC%88ODA%EF%BC%89%E3%81%AE%E5%BD%B9%E5%89%B2\" >DNAI2\u907a\u4f1d\u5b50\u3068\u5916\u5074\u30c0\u30a4\u30cb\u30f3\u8155\uff08ODA\uff09\u306e\u5f79\u5272<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-ciliary-dyskinesia-dnai2\/#%E9%81%BA%E4%BC%9D%E3%81%AE%E4%BB%95%E7%B5%84%E3%81%BF%EF%BC%9A%E5%B8%B8%E6%9F%93%E8%89%B2%E4%BD%93%E6%BD%9C%E6%80%A7%E9%81%BA%E4%BC%9D\" >\u907a\u4f1d\u306e\u4ed5\u7d44\u307f\uff1a\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-ciliary-dyskinesia-dnai2\/#3_%E4%B8%BB%E3%81%AA%E7%97%87%E7%8A%B6%EF%BC%9A%E5%91%BC%E5%90%B8%E5%99%A8%E3%81%8B%E3%82%89%E7%94%9F%E6%AE%96%E5%99%A8%E3%81%BE%E3%81%A7%E5%85%A8%E8%BA%AB%E3%81%AB%E5%8F%8A%E3%81%B6\" >3. \u4e3b\u306a\u75c7\u72b6\uff1a\u547c\u5438\u5668\u304b\u3089\u751f\u6b96\u5668\u307e\u3067\u5168\u8eab\u306b\u53ca\u3076<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-ciliary-dyskinesia-dnai2\/#%E5%91%BC%E5%90%B8%E5%99%A8%E3%81%AE%E7%97%87%E7%8A%B6\" >\u547c\u5438\u5668\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\/primary-ciliary-dyskinesia-dnai2\/#%E5%86%85%E8%87%93%E3%81%AE%E5%B7%A6%E5%8F%B3%E9%85%8D%E7%BD%AE%E3%81%AE%E7%95%B0%E5%B8%B8\" >\u5185\u81d3\u306e\u5de6\u53f3\u914d\u7f6e\u306e\u7570\u5e38<\/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\/primary-ciliary-dyskinesia-dnai2\/#%E7%94%9F%E6%AE%96%E5%99%A8%E3%83%BB%E8%81%B4%E8%A6%9A%E3%81%AE%E7%97%87%E7%8A%B6\" >\u751f\u6b96\u5668\u30fb\u8074\u899a\u306e\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-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-ciliary-dyskinesia-dnai2\/#4_%E6%A4%9C%E6%9F%BB%E3%83%BB%E8%A8%BA%E6%96%AD%E3%81%AE%E6%B5%81%E3%82%8C\" >4. \u691c\u67fb\u30fb\u8a3a\u65ad\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-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-ciliary-dyskinesia-dnai2\/#%E9%BC%BB%E4%B8%80%E9%85%B8%E5%8C%96%E7%AA%92%E7%B4%A0%E6%B8%AC%E5%AE%9A%E3%81%A8%E6%A9%9F%E8%83%BD%E6%A4%9C%E6%9F%BB\" >\u9f3b\u4e00\u9178\u5316\u7a92\u7d20\u6e2c\u5b9a\u3068\u6a5f\u80fd\u691c\u67fb<\/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\/primary-ciliary-dyskinesia-dnai2\/#%E6%A7%8B%E9%80%A0%E3%83%BB%E9%81%BA%E4%BC%9D%E5%AD%90%E6%A4%9C%E6%9F%BB%E3%81%AB%E3%82%88%E3%82%8B%E7%A2%BA%E5%AE%9A%E8%A8%BA%E6%96%AD\" >\u69cb\u9020\u30fb\u907a\u4f1d\u5b50\u691c\u67fb\u306b\u3088\u308b\u78ba\u5b9a\u8a3a\u65ad<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-12\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-ciliary-dyskinesia-dnai2\/#5_%E6%B2%BB%E7%99%82%E3%81%A8%E3%82%B1%E3%82%A2%EF%BC%9A%E9%80%B2%E8%A1%8C%E3%82%92%E6%8A%91%E3%81%88%E3%80%81%E7%94%9F%E6%B4%BB%E3%81%AE%E8%B3%AA%E3%82%92%E5%AE%88%E3%82%8B\" >5. \u6cbb\u7642\u3068\u30b1\u30a2\uff1a\u9032\u884c\u3092\u6291\u3048\u3001\u751f\u6d3b\u306e\u8cea\u3092\u5b88\u308b<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-13\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-ciliary-dyskinesia-dnai2\/#%E5%91%BC%E5%90%B8%E5%99%A8%E3%81%AE%E3%82%B1%E3%82%A2\" >\u547c\u5438\u5668\u306e\u30b1\u30a2<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-ciliary-dyskinesia-dnai2\/#%E8%80%B3%E9%BC%BB%E7%A7%91%E7%9A%84%E3%82%B1%E3%82%A2%E3%81%A8%E5%A6%8A%E5%A8%A0%E3%83%BB%E5%87%BA%E7%94%A3%E3%81%AE%E3%82%B5%E3%83%9D%E3%83%BC%E3%83%88\" >\u8033\u9f3b\u79d1\u7684\u30b1\u30a2\u3068\u598a\u5a20\u30fb\u51fa\u7523\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-15\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-ciliary-dyskinesia-dnai2\/#%E7%A0%94%E7%A9%B6%E3%81%8C%E9%80%B2%E3%82%80%E6%96%B0%E3%81%97%E3%81%84%E6%B2%BB%E7%99%82\" >\u7814\u7a76\u304c\u9032\u3080\u65b0\u3057\u3044\u6cbb\u7642<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-ciliary-dyskinesia-dnai2\/#6_%E4%BA%88%E5%BE%8C%E3%83%BB%E9%95%B7%E6%9C%9F%E7%9A%84%E3%81%AA%E8%A6%8B%E9%80%9A%E3%81%97\" >6. \u4e88\u5f8c\u30fb\u9577\u671f\u7684\u306a\u898b\u901a\u3057<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-ciliary-dyskinesia-dnai2\/#7_%E4%BB%96%E3%81%AEPCD%E5%8E%9F%E5%9B%A0%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%A8%E3%81%AE%E9%81%95%E3%81%84%EF%BC%9ADNAH5%E3%81%AA%E3%81%A9%E3%81%A8%E3%81%AE%E6%AF%94%E8%BC%83\" >7. \u4ed6\u306ePCD\u539f\u56e0\u907a\u4f1d\u5b50\u3068\u306e\u9055\u3044\uff1aDNAH5\u306a\u3069\u3068\u306e\u6bd4\u8f03<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-18\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-ciliary-dyskinesia-dnai2\/#8_NIPT%EF%BC%88%E6%96%B0%E5%9E%8B%E5%87%BA%E7%94%9F%E5%89%8D%E8%A8%BA%E6%96%AD%EF%BC%89%E3%81%A8DNAI2%E9%96%A2%E9%80%A3PCD%E3%81%AE%E9%96%A2%E4%BF%82\" >8. NIPT\uff08\u65b0\u578b\u51fa\u751f\u524d\u8a3a\u65ad\uff09\u3068DNAI2\u95a2\u9023PCD\u306e\u95a2\u4fc2<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-19\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-ciliary-dyskinesia-dnai2\/#9_%E5%A6%8A%E5%A8%A0%E3%83%BB%E5%87%BA%E7%94%A3%E3%82%92%E8%80%83%E3%81%88%E3%82%8B%E3%81%A8%E3%81%8D%E3%81%AB%E7%9F%A5%E3%81%A3%E3%81%A6%E3%81%8A%E3%81%8D%E3%81%9F%E3%81%84%E3%81%93%E3%81%A8\" >9. \u598a\u5a20\u30fb\u51fa\u7523\u3092\u8003\u3048\u308b\u3068\u304d\u306b\u77e5\u3063\u3066\u304a\u304d\u305f\u3044\u3053\u3068<\/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\/primary-ciliary-dyskinesia-dnai2\/#10_%E3%81%BE%E3%81%A8%E3%82%81%EF%BC%9A%E8%A8%BA%E6%96%AD%E5%90%8D%E3%81%A8%E5%90%91%E3%81%8D%E5%90%88%E3%81%86%E3%81%9F%E3%82%81%E3%81%AB\" >10. \u307e\u3068\u3081\uff1a\u8a3a\u65ad\u540d\u3068\u5411\u304d\u5408\u3046\u305f\u3081\u306b<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-21\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-ciliary-dyskinesia-dnai2\/#%E3%82%88%E3%81%8F%E3%81%82%E3%82%8B%E8%B3%AA%E5%95%8F\" >\u3088\u304f\u3042\u308b\u8cea\u554f<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-22\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-ciliary-dyskinesia-dnai2\/#%E5%8E%9F%E7%99%BA%E6%80%A7%E7%B7%9A%E6%AF%9B%E6%A9%9F%E8%83%BD%E4%B8%8D%E5%85%A8%E7%97%87%EF%BC%88PCD%EF%BC%89%E3%81%A8DNAI2%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AF%E3%80%81%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E9%96%A2%E4%BF%82%E3%81%AB%E3%81%82%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >\u539f\u767a\u6027\u7dda\u6bdb\u6a5f\u80fd\u4e0d\u5168\u75c7\uff08PCD\uff09\u3068DNAI2\u907a\u4f1d\u5b50\u306f\u3001\u3069\u306e\u3088\u3046\u306a\u95a2\u4fc2\u306b\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-23\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-ciliary-dyskinesia-dnai2\/#DNAI2%E9%96%A2%E9%80%A3PCD%E3%81%AF%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AB%E9%81%BA%E4%BC%9D%E3%81%97%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82%E6%AC%A1%E3%81%AE%E5%AD%90%E3%81%AB%E3%82%82%E5%BD%B1%E9%9F%BF%E3%81%97%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >DNAI2\u95a2\u9023PCD\u306f\u3069\u306e\u3088\u3046\u306b\u907a\u4f1d\u3057\u307e\u3059\u304b\u3002\u6b21\u306e\u5b50\u306b\u3082\u5f71\u97ff\u3057\u307e\u3059\u304b\u3002<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-24\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-ciliary-dyskinesia-dnai2\/#DNAI2%E9%96%A2%E9%80%A3PCD%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\" >DNAI2\u95a2\u9023PCD\u306fNIPT\u3067\u308f\u304b\u308a\u307e\u3059\u304b\u3002<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-25\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-ciliary-dyskinesia-dnai2\/#DNAI2%E3%81%A8DNAH5%E3%81%AA%E3%81%A9%E3%80%81%E4%BB%96%E3%81%AEPCD%E5%8E%9F%E5%9B%A0%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%A8%E3%81%AE%E9%81%95%E3%81%84%E3%81%AF%E4%BD%95%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\" >DNAI2\u3068DNAH5\u306a\u3069\u3001\u4ed6\u306ePCD\u539f\u56e0\u907a\u4f1d\u5b50\u3068\u306e\u9055\u3044\u306f\u4f55\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\/primary-ciliary-dyskinesia-dnai2\/#PCD%E3%81%AB%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\" >PCD\u306b\u6cbb\u7642\u6cd5\u306f\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\/primary-ciliary-dyskinesia-dnai2\/#%E7%97%87%E7%8A%B6%E3%81%AB%E6%B0%97%E3%81%A5%E3%81%84%E3%81%9F%E3%81%A8%E3%81%8D%E3%80%81%E3%81%BE%E3%81%9A%E4%BD%95%E3%82%92%E3%81%99%E3%82%8C%E3%81%B0%E3%82%88%E3%81%84%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\" >\u75c7\u72b6\u306b\u6c17\u3065\u3044\u305f\u3068\u304d\u3001\u307e\u305a\u4f55\u3092\u3059\u308c\u3070\u3088\u3044\u3067\u3059\u304b\u3002<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-28\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-ciliary-dyskinesia-dnai2\/#%E5%BC%95%E7%94%A8%E6%96%87%E7%8C%AE%EF%BD%9CReferences\" >\u5f15\u7528\u6587\u732e\uff5cReferences<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-29\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-ciliary-dyskinesia-dnai2\/#%E3%82%AD%E3%83%BC%E3%83%AF%E3%83%BC%E3%83%89%EF%BD%9CKeywords\" >\u30ad\u30fc\u30ef\u30fc\u30c9\uff5cKeywords<\/a><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E5%8E%9F%E7%99%BA%E6%80%A7%E7%B7%9A%E6%AF%9B%E6%A9%9F%E8%83%BD%E4%B8%8D%E5%85%A8%E7%97%87%EF%BC%88PCD%EF%BC%89%E3%81%A8%E3%81%AF%E3%80%81%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E7%97%85%E6%B0%97%E3%81%8B\"><\/span><strong>1. \u539f\u767a\u6027\u7dda\u6bdb\u6a5f\u80fd\u4e0d\u5168\u75c7\uff08PCD\uff09\u3068\u306f\u3001\u3069\u306e\u3088\u3046\u306a\u75c5\u6c17\u304b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u539f\u767a\u6027\u7dda\u6bdb\u6a5f\u80fd\u4e0d\u5168\u75c7\uff08PCD\uff09\u306f\u3001\u4f53\u306e\u4e2d\u306e\u300c\u52d5\u304f\u7dda\u6bdb\u300d\u304c\u3046\u307e\u304f\u50cd\u304b\u306a\u3044\u305f\u3081\u306b\u8d77\u3053\u308b\u5148\u5929\u6027\u306e\u75be\u60a3\u3067\u3059\u3002<\/strong>\u6b63\u5f0f\u306b\u306f\u9577\u3044\u75c5\u540d\u3067\u3059\u304c\u3001\u4ed5\u7d44\u307f\u3092\u77e5\u308c\u3070\u7406\u89e3\u3057\u3084\u3059\u304f\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7dda\u6bdb\u306f\u3001\u9f3b\u3084\u6c17\u7ba1\u652f\u3001\u5375\u7ba1\u3001\u7cbe\u5b50\u306e\u5c3e\u90e8\u306a\u3069\u306b\u3042\u308b\u3001\u3068\u3066\u3082\u5c0f\u3055\u306a\u6bdb\u306e\u3088\u3046\u306a\u69cb\u9020\u3067\u3059\u3002\u30ea\u30ba\u30e0\u3088\u304f\u52d5\u304f\u3053\u3068\u3067\u3001\u6c17\u9053\u306e\u7570\u7269\u3084\u7d30\u83cc\u3092\u5916\u3078\u62bc\u3057\u51fa\u3057\u305f\u308a\u3001\u80ce\u5150\u671f\u306b\u5185\u81d3\u306e\u5de6\u53f3\u914d\u7f6e\u3092\u6c7a\u3081\u305f\u308a\u3001\u7cbe\u5b50\u3084\u5375\u5b50\u3092\u904b\u3093\u3060\u308a\u3059\u308b\u50cd\u304d\u3092\u62c5\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>PCD\u3067\u306f\u3001\u3053\u306e\u7dda\u6bdb\u306e\u69cb\u9020\u3084\u52d5\u304d\u306b\u751f\u307e\u308c\u3064\u304d\u306e\u7570\u5e38\u304c\u3042\u308a\u307e\u3059\u3002\u305d\u306e\u305f\u3081\u3001\u3053\u308c\u3089\u306e\u50cd\u304d\u304c\u5341\u5206\u306b\u679c\u305f\u305b\u307e\u305b\u3093\u3002\u51fa\u751f\u76f4\u5f8c\u304b\u3089\u306e\u547c\u5438\u969c\u5bb3\u3001\u6162\u6027\u7684\u306a\u54b3\u3084\u9f3b\u3065\u307e\u308a\u3001\u4e2d\u8033\u708e\u3001\u5185\u81d3\u9006\u4f4d\u3084\u4e0d\u598a\u3068\u3044\u3063\u305f\u75c7\u72b6\u306b\u3064\u306a\u304c\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u65e5\u672c\u3067\u306f<a href=\"https:\/\/www.nanbyou.or.jp\/entry\/28601\" target=\"_blank\" rel=\"noopener\">\u300c\u7dda\u6bdb\u6a5f\u80fd\u4e0d\u5168\u75c7\u5019\u7fa4\uff08\u30ab\u30eb\u30bf\u30b2\u30ca\u30fc\u75c7\u5019\u7fa4\u3092\u542b\u3080\u3002\uff09\u300d\u3068\u3057\u3066\u6307\u5b9a\u96e3\u75c5340\u53f7<\/a>\u306b\u767b\u9332\u3055\u308c\u3066\u304a\u308a\u3001\u56fd\u5185\u306e\u60a3\u8005\u6570\u306f\u7d045,000\u4eba\u672a\u6e80\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u4e16\u754c\u7684\u306a\u983b\u5ea6\u306b\u3064\u3044\u3066\u3082\u3001\u6570\u4e07\u4eba\u306b1\u4eba\u7a0b\u5ea6\u3068\u3059\u308b\u5831\u544a\u304c\u8907\u6570\u3042\u308a\u3001\u307e\u308c\u306a\u75be\u60a3\u306b\u5206\u985e\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>DNAI2\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306f\u3001PCD\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u306e\u4e00\u3064\u3067\u3059\u3002<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1122\/\" target=\"_blank\" rel=\"noopener\">GeneReviews\u306e\u5927\u898f\u6a21\u306a\u5206\u5b50\u907a\u4f1d\u5b66\u7684\u30c7\u30fc\u30bf<\/a>\u306b\u3088\u308b\u3068\u3001DNAI2\u5909\u7570\u304c\u5360\u3081\u308b\u5272\u5408\u306fPCD\u5168\u4f53\u306e2%\u672a\u6e80\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u8840\u7e01\u5a5a\u306e\u591a\u3044\u5730\u57df\u3084\u7279\u5b9a\u306e\u5bb6\u7cfb\u3067\u306f\u3001\u540c\u3058\u5909\u7570\u304c\u7e70\u308a\u8fd4\u3057\u307f\u3064\u304b\u308b\u300c\u5275\u59cb\u8005\u5909\u7570\u300d\u306e\u5831\u544a\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/autosomal-recessive-genetics-support\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u3068\u306f\uff1f\u4ed5\u7d44\u307f\u3068\u4ee3\u8868\u75be\u60a34\u3064\u3092\u89e3\u8aac <\/div>\n          <div class=\"blog-card-excerpt\">\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u306e\u4ed5\u7d44\u307f\u3084\u4ee3\u8868\u7684\u306a\u75be\u60a3\uff08\u56a2\u80de\u6027\u7dda\u7dad\u75c7\u3001\u30d5\u30a7\u30cb\u30eb\u30b1\u30c8\u30f3\u5c3f\u75c7\u306a\u3069\uff09\u3001\u8a3a\u65ad\u65b9\u6cd5\u3001\u6559\u80b2\u30fb\u533b\u7642\u30fb\u798f\u7949\u652f\u63f4\u306e\u30dd\u30a4\u30f3\u30c8\u3092\u308f\u304b\u308a\u3084\u3059\u304f\u89e3\u8aac\u3057...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_DNAI2%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%A8PCD%E3%81%AE%E5%8E%9F%E5%9B%A0%EF%BC%9A%E5%A4%96%E5%81%B4%E3%83%80%E3%82%A4%E3%83%8B%E3%83%B3%E8%85%95%E3%81%AE%E7%95%B0%E5%B8%B8%E3%81%A8%E3%81%84%E3%81%86%E4%BB%95%E7%B5%84%E3%81%BF\"><\/span><strong>2. DNAI2\u907a\u4f1d\u5b50\u3068PCD\u306e\u539f\u56e0\uff1a\u5916\u5074\u30c0\u30a4\u30cb\u30f3\u8155\u306e\u7570\u5e38\u3068\u3044\u3046\u4ed5\u7d44\u307f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>DNAI2\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306f\u3001\u7dda\u6bdb\u3092\u52d5\u304b\u3059\u300c\u30e2\u30fc\u30bf\u30fc\u90e8\u5206\u300d\u304c\u3046\u307e\u304f\u4f5c\u3089\u308c\u306a\u304f\u306a\u308b\u3053\u3068\u3067PCD\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002<\/strong>\u3053\u306e\u4ed5\u7d44\u307f\u3092\u77e5\u308b\u3068\u3001\u75c7\u72b6\u306e\u7406\u7531\u304c\u898b\u3048\u3066\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"DNAI2%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%A8%E5%A4%96%E5%81%B4%E3%83%80%E3%82%A4%E3%83%8B%E3%83%B3%E8%85%95%EF%BC%88ODA%EF%BC%89%E3%81%AE%E5%BD%B9%E5%89%B2\"><\/span>DNAI2\u907a\u4f1d\u5b50\u3068\u5916\u5074\u30c0\u30a4\u30cb\u30f3\u8155\uff08ODA\uff09\u306e\u5f79\u5272<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>DNAI2\uff08Dynein Axonemal Intermediate Chain 2\uff09\u907a\u4f1d\u5b50\u306f\u300117\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\uff0817q25\uff09\u306b\u4f4d\u7f6e\u3057\u3066\u3044\u307e\u3059\u3002\u7dda\u6bdb\u306e\u5185\u90e8\u306b\u3042\u308b\u300c\u5916\u5074\u30c0\u30a4\u30cb\u30f3\u8155\uff08Outer Dynein Arm, ODA\uff09\u300d\u3068\u3044\u3046\u30e2\u30fc\u30bf\u30fc\u69cb\u9020\u306e\u4e00\u90e8\u3092\u4f5c\u308b\u8a2d\u8a08\u56f3\u3067\u3059\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"26\" src=\"\/nipt\/wp-content\/uploads\/2025\/07\/DNAI2-hgtIdeo_genome_asia_fad81_3729d0-1024x26.png\" alt=\"DNAI2\u907a\u4f1d\u5b50\u304c\u4f4d\u7f6e\u3059\u308b17\u756a\u67d3\u8272\u4f53\u4e0a\u306e\u9818\u57df\u3092\u793a\u3059\u30a4\u30e9\u30b9\u30c8\" class=\"wp-image-102830\"\/><\/figure><\/div>\n\n\n<p>\u5916\u5074\u30c0\u30a4\u30cb\u30f3\u8155\u306f\u3001\u7dda\u6bdb\u3092\u30ea\u30ba\u30e0\u3088\u304f\u6ce2\u6253\u305f\u305b\u308b\u52d5\u529b\u6e90\u306b\u3042\u305f\u308a\u307e\u3059\u3002\u6c17\u7ba1\u3084\u7cbe\u5de3\u306a\u3069\u3001\u7dda\u6bdb\u304c\u591a\u304f\u5b58\u5728\u3059\u308b\u7d44\u7e54\u3067\u7279\u306b\u5f37\u304f\u50cd\u304f\u30bf\u30f3\u30d1\u30af\u8cea\u3067\u3059\u3002<\/p>\n\n\n\n<p>DNAI2\u907a\u4f1d\u5b50\u306b\u75c5\u7684\u306a\u5909\u7570\u304c\u3042\u308b\u3068\u3001\u5916\u5074\u30c0\u30a4\u30cb\u30f3\u8155\u304c\u6b63\u3057\u304f\u7d44\u307f\u7acb\u3066\u3089\u308c\u306a\u304b\u3063\u305f\u308a\u3001\u90e8\u5206\u7684\u307e\u305f\u306f\u5b8c\u5168\u306b\u6b20\u3051\u3066\u3057\u307e\u3063\u305f\u308a\u3057\u307e\u3059\u3002\u7dda\u6bdb\u306f\u300c\u7121\u52d5\u300d\u3042\u308b\u3044\u306f\u300c\u3061\u3089\u3064\u304f\u3088\u3046\u306a\u5f31\u3044\u52d5\u304d\u300d\u3057\u304b\u793a\u305b\u306a\u304f\u306a\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%E3%81%AE%E4%BB%95%E7%B5%84%E3%81%BF%EF%BC%9A%E5%B8%B8%E6%9F%93%E8%89%B2%E4%BD%93%E6%BD%9C%E6%80%A7%E9%81%BA%E4%BC%9D\"><\/span>\u907a\u4f1d\u306e\u4ed5\u7d44\u307f\uff1a\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>DNAI2\u95a2\u9023PCD\u306f\u3001\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u306e\u5f62\u5f0f\u3067\u53d7\u3051\u7d99\u304c\u308c\u307e\u3059\u3002\u7236\u89aa\u3068\u6bcd\u89aa\u306e\u4e21\u65b9\u304b\u3089\u3001\u305d\u308c\u305e\u308c1\u3064\u305a\u3064\u5909\u7570\u306e\u3042\u308bDNAI2\u907a\u4f1d\u5b50\u3092\u53d7\u3051\u7d99\u3044\u3060\u5834\u5408\u306b\u767a\u75c7\u3059\u308b\u4ed5\u7d44\u307f\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u7247\u65b9\u306e\u907a\u4f1d\u5b50\u3060\u3051\u306b\u5909\u7570\u304c\u3042\u308b\u300c\u4fdd\u56e0\u8005\u300d\u306e\u72b6\u614b\u3067\u306f\u3001\u901a\u5e38\u306f\u75c7\u72b6\u304c\u73fe\u308c\u307e\u305b\u3093\u3002\u3054\u4e21\u89aa\u306e\u3069\u3061\u3089\u3082PCD\u3067\u306a\u3044\u306e\u306b\u3001\u304a\u5b50\u3055\u3093\u304c\u767a\u75c7\u3059\u308b\u306e\u306f\u3053\u306e\u305f\u3081\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u591a\u304f\u306e\u3054\u5bb6\u65cf\u304c\u3001\u598a\u5a20\u4e2d\u306e\u904e\u3054\u3057\u65b9\u306b\u539f\u56e0\u304c\u3042\u3063\u305f\u306e\u3067\u306f\u3068\u3001\u3054\u81ea\u8eab\u3092\u8cac\u3081\u3066\u3057\u307e\u3044\u307e\u3059\u3002\u79c1\u306f\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u73fe\u5834\u3067\u3001\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u306f\u3054\u4e21\u89aa\u306e\u751f\u6d3b\u7fd2\u6163\u3068\u306f\u95a2\u4fc2\u306a\u304f\u8d77\u3053\u308b\u4ed5\u7d44\u307f\u3060\u3068\u3001\u7e70\u308a\u8fd4\u3057\u304a\u4f1d\u3048\u3057\u3066\u304d\u307e\u3057\u305f\u3002<\/p>\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%EF%BC%9A%E5%91%BC%E5%90%B8%E5%99%A8%E3%81%8B%E3%82%89%E7%94%9F%E6%AE%96%E5%99%A8%E3%81%BE%E3%81%A7%E5%85%A8%E8%BA%AB%E3%81%AB%E5%8F%8A%E3%81%B6\"><\/span><strong>3. \u4e3b\u306a\u75c7\u72b6\uff1a\u547c\u5438\u5668\u304b\u3089\u751f\u6b96\u5668\u307e\u3067\u5168\u8eab\u306b\u53ca\u3076<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>DNAI2\u95a2\u9023PCD\u306e\u75c7\u72b6\u306f\u3001\u547c\u5438\u5668\u30fb\u5185\u81d3\u306e\u914d\u7f6e\u30fb\u751f\u6b96\u5668\u306a\u3069\u3001\u7dda\u6bdb\u304c\u50cd\u304f\u5168\u8eab\u306e\u90e8\u4f4d\u306b\u53ca\u3073\u307e\u3059\u3002<\/strong>\u75c7\u72b6\u306e\u73fe\u308c\u65b9\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308b\u305f\u3081\u3001\u4ee3\u8868\u7684\u306a\u7279\u5fb4\u3092\u90e8\u4f4d\u5225\u306b\u78ba\u8a8d\u3057\u3066\u3044\u304d\u307e\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%91%BC%E5%90%B8%E5%99%A8%E3%81%AE%E7%97%87%E7%8A%B6\"><\/span>\u547c\u5438\u5668\u306e\u75c7\u72b6<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u65b0\u751f\u5150\u306e75%\u4ee5\u4e0a\u3067\u3001\u51fa\u751f\u76f4\u5f8c\u304b\u3089\u306e\u547c\u5438\u56f0\u96e3\u304c\u307f\u3089\u308c\u307e\u3059\u3002\u6210\u9577\u3068\u3068\u3082\u306b\u3001\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u547c\u5438\u5668\u75c7\u72b6\u304c\u7d9a\u304d\u3084\u3059\u304f\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u75f0\u3092\u4f34\u3046\u6162\u6027\u7684\u306a\u6e7f\u3063\u305f\u54b3<\/li>\n\n\n<li>\u6162\u6027\u526f\u9f3b\u8154\u708e\u3084\u9f3b\u3065\u307e\u308a<\/li>\n\n\n<li>\u7e70\u308a\u8fd4\u3059\u4e2d\u8033\u708e<\/li>\n\n\n<li>\u6c17\u7ba1\u652f\u62e1\u5f35\u75c7\uff08\u6c17\u9053\u306e\u4e00\u90e8\u304c\u58ca\u308c\u3066\u5e83\u304c\u308b\u72b6\u614b\uff09<\/li>\n\n\n<li>\u6307\u5148\u3084\u722a\u304c\u4e38\u304f\u3075\u304f\u3089\u3080\u3070\u3061\u6307<\/li>\n<\/ul>\n\n\n\n<p>\u6c17\u7ba1\u652f\u62e1\u5f35\u75c7\u306f\u3001\u611f\u67d3\u3092\u7e70\u308a\u8fd4\u3059\u3046\u3061\u306b\u5f90\u3005\u306b\u9032\u884c\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u65e9\u3081\u306e\u6392\u75f0\u30b1\u30a2\u304c\u3001\u9032\u884c\u3092\u6291\u3048\u308b\u9375\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%86%85%E8%87%93%E3%81%AE%E5%B7%A6%E5%8F%B3%E9%85%8D%E7%BD%AE%E3%81%AE%E7%95%B0%E5%B8%B8\"><\/span>\u5185\u81d3\u306e\u5de6\u53f3\u914d\u7f6e\u306e\u7570\u5e38<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u7dda\u6bdb\u306f\u3001\u80ce\u5150\u671f\u306b\u5185\u81d3\u306e\u5de6\u53f3\u914d\u7f6e\u3092\u6c7a\u3081\u308b\u50cd\u304d\u3082\u62c5\u3063\u3066\u3044\u307e\u3059\u3002DNAI2\u95a2\u9023PCD\u3067\u306f\u3001\u5185\u81d3\u9006\u4f4d\uff08situs inversus\uff09\u304c\u7d0440\u301c50%\u306e\u65b9\u306b\u307f\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5fc3\u81d3\u3084\u8178\u306a\u3069\u306e\u4f4d\u7f6e\u304c\u8907\u96d1\u306b\u5165\u308c\u66ff\u308f\u308b\u300c\u7570\u6240\u6027\uff08heterotaxy\uff09\u300d\u306f\u7d049\u301c12%\u3067\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001\u5148\u5929\u6027\u5fc3\u75be\u60a3\u3092\u4f34\u3046\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u51fa\u751f\u524d\u5f8c\u306e\u5fc3\u81d3\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u306e\u78ba\u8a8d\u304c\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%94%9F%E6%AE%96%E5%99%A8%E3%83%BB%E8%81%B4%E8%A6%9A%E3%81%AE%E7%97%87%E7%8A%B6\"><\/span>\u751f\u6b96\u5668\u30fb\u8074\u899a\u306e\u75c7\u72b6<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u7537\u6027\u3067\u306f\u3001\u7cbe\u5b50\u306e\u5c3e\u90e8\u304c\u52d5\u304b\u306a\u3044\u305f\u3081\u306b\u4e0d\u598a\u3068\u306a\u308b\u4f8b\u304c\u307b\u3068\u3093\u3069\u3067\u3059\u3002\u5973\u6027\u3067\u3082\u5375\u7ba1\u306e\u7dda\u6bdb\u306e\u50cd\u304d\u304c\u5f31\u304f\u3001\u598a\u5a20\u3057\u306b\u304f\u3055\u3084\u5b50\u5bae\u5916\u598a\u5a20\u306e\u30ea\u30b9\u30af\u304c\u6307\u6458\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7e70\u308a\u8fd4\u3059\u4e2d\u8033\u708e\u306b\u3088\u308a\u3001\u4e00\u6642\u7684\u307e\u305f\u306f\u6c38\u7d9a\u7684\u306a\u96e3\u8074\u304c\u307f\u3089\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u5e7c\u5150\u671f\u306b\u306f\u3001\u8a00\u8449\u306e\u767a\u9054\u3078\u306e\u5f71\u97ff\u306b\u3082\u6ce8\u610f\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/nipt-detectable-conditions\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u51fa\u751f\u5f8c\u3067\u306f\u9045\u3044\uff1fNIPT\u3067\u898b\u3064\u304b\u308b\u53ef\u80fd\u6027\u306e\u3042\u308b\u969c\u5bb3\u3068\u306f <\/div>\n          <div class=\"blog-card-excerpt\">NIPT\u3067\u5206\u304b\u308b\u5148\u5929\u6027\u7570\u5e38\u3084\u898b\u3048\u306b\u304f\u3044\u30ea\u30b9\u30af\u306b\u3064\u3044\u3066\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u304c\u89e3\u8aac\u3002\u51fa\u751f\u524d\u306b\u5099\u3048\u308b\u3053\u3068\u3067\u3001\u533b\u7642\u30fb\u751f\u6d3b\u30fb\u5fc3\u7406\u9762\u3067\u306e\u5b89\u5fc3\u3068\u5bb6\u65cf\u306e\u5c06\u6765\u8a2d\u8a08\u306b...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E6%A4%9C%E6%9F%BB%E3%83%BB%E8%A8%BA%E6%96%AD%E3%81%AE%E6%B5%81%E3%82%8C\"><\/span><strong>4. \u691c\u67fb\u30fb\u8a3a\u65ad\u306e\u6d41\u308c<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>PCD\u306e\u8a3a\u65ad\u306f\u3001\u8907\u6570\u306e\u691c\u67fb\u3092\u7d44\u307f\u5408\u308f\u305b\u3066\u7dcf\u5408\u7684\u306b\u884c\u308f\u308c\u307e\u3059\u3002<\/strong>\u4e00\u3064\u306e\u691c\u67fb\u3060\u3051\u3067\u78ba\u5b9a\u3059\u308b\u3053\u3068\u306f\u3067\u304d\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%BC%BB%E4%B8%80%E9%85%B8%E5%8C%96%E7%AA%92%E7%B4%A0%E6%B8%AC%E5%AE%9A%E3%81%A8%E6%A9%9F%E8%83%BD%E6%A4%9C%E6%9F%BB\"><\/span>\u9f3b\u4e00\u9178\u5316\u7a92\u7d20\u6e2c\u5b9a\u3068\u6a5f\u80fd\u691c\u67fb<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>5\u6b73\u4ee5\u4e0a\u306e\u65b9\u3067\u306f\u3001\u9f3b\u306e\u4e2d\u306e\u4e00\u9178\u5316\u7a92\u7d20\u6fc3\u5ea6\u3092\u6e2c\u308b\u691c\u67fb\u304c\u5e83\u304f\u4f7f\u308f\u308c\u3066\u3044\u307e\u3059\u3002\u57fa\u6e96\u5024\uff0877 nL\/min\u672a\u6e80\uff09\u3092\u7528\u3044\u305f\u5834\u5408\u3001\u611f\u5ea698%\u3001\u7279\u7570\u5ea699%\u3068\u3044\u3046\u9ad8\u3044\u7cbe\u5ea6\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u9ad8\u901f\u30d3\u30c7\u30aa\u89e3\u6790\uff08HSVA\uff09\u3067\u306f\u3001\u7dda\u6bdb\u306e\u52d5\u304d\u305d\u306e\u3082\u306e\u3092\u64ae\u5f71\u3057\u3066\u78ba\u8a8d\u3057\u307e\u3059\u3002PCD\u3067\u306f\u7dda\u6bdb\u304c\u300c\u7121\u52d5\u300d\u307e\u305f\u306f\u300c\u3061\u3089\u3064\u304f\u3088\u3046\u306a\u52d5\u304d\u300d\u3092\u793a\u3059\u3053\u3068\u304c\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%A7%8B%E9%80%A0%E3%83%BB%E9%81%BA%E4%BC%9D%E5%AD%90%E6%A4%9C%E6%9F%BB%E3%81%AB%E3%82%88%E3%82%8B%E7%A2%BA%E5%AE%9A%E8%A8%BA%E6%96%AD\"><\/span>\u69cb\u9020\u30fb\u907a\u4f1d\u5b50\u691c\u67fb\u306b\u3088\u308b\u78ba\u5b9a\u8a3a\u65ad<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u96fb\u5b50\u9855\u5fae\u93e1\u3067\u306f\u3001\u5916\u5074\u30c0\u30a4\u30cb\u30f3\u8155\u306e\u6b20\u640d\u3092\u76f4\u63a5\u89b3\u5bdf\u3057\u307e\u3059\u3002\u514d\u75ab\u86cd\u5149\u67d3\u8272\u3092\u7d44\u307f\u5408\u308f\u305b\u308b\u3053\u3068\u3067\u3001DNAI2\u30bf\u30f3\u30d1\u30af\u8cea\u304c\u4f5c\u3089\u308c\u3066\u3044\u308b\u304b\u3069\u3046\u304b\u3082\u78ba\u8a8d\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6700\u7d42\u7684\u306a\u78ba\u5b9a\u8a3a\u65ad\u306b\u306f\u3001\u907a\u4f1d\u5b50\u691c\u67fb\u3067DNAI2\u907a\u4f1d\u5b50\u306e\u4e21\u65b9\u306e\u30a2\u30ec\u30eb\u306b\u75c5\u7684\u5909\u7570\u304c\u3042\u308b\u3053\u3068\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002\u8fd1\u5e74\u306f\u3001\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b5\u30fc\u3092\u7528\u3044\u305fPCD\u95a2\u9023\u907a\u4f1d\u5b50\u30d1\u30cd\u30eb\u691c\u67fb\u304c\u5e83\u304f\u4f7f\u308f\u308c\u308b\u3088\u3046\u306b\u306a\u308a\u307e\u3057\u305f\u3002\u96e3\u3057\u3044\u75c7\u4f8b\u3067\u306f\u3001iPS\u7d30\u80de\u7531\u6765\u306e\u7dda\u6bdb\u7d30\u80de\u3092\u4f7f\u3063\u305f\u6a5f\u80fd\u89e3\u6790\u304c\u7814\u7a76\u6a5f\u95a2\u3067\u884c\u308f\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"5_%E6%B2%BB%E7%99%82%E3%81%A8%E3%82%B1%E3%82%A2%EF%BC%9A%E9%80%B2%E8%A1%8C%E3%82%92%E6%8A%91%E3%81%88%E3%80%81%E7%94%9F%E6%B4%BB%E3%81%AE%E8%B3%AA%E3%82%92%E5%AE%88%E3%82%8B\"><\/span><strong>5. \u6cbb\u7642\u3068\u30b1\u30a2\uff1a\u9032\u884c\u3092\u6291\u3048\u3001\u751f\u6d3b\u306e\u8cea\u3092\u5b88\u308b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>PCD\u3092\u5b8c\u6cbb\u3055\u305b\u308b\u6cbb\u7642\u6cd5\u306f\u3001\u73fe\u6642\u70b9\u3067\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002<\/strong>\u305d\u308c\u3067\u3082\u3001\u75c7\u72b6\u306e\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3068\u5408\u4f75\u75c7\u306e\u4e88\u9632\u3067\u751f\u6d3b\u306e\u8cea\u3092\u5927\u304d\u304f\u9ad8\u3081\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%91%BC%E5%90%B8%E5%99%A8%E3%81%AE%E3%82%B1%E3%82%A2\"><\/span>\u547c\u5438\u5668\u306e\u30b1\u30a2<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u75f0\u3092\u51fa\u3057\u3084\u3059\u304f\u3059\u308b\u6392\u75f0\u7642\u6cd5\uff08\u4f53\u4f4d\u30c9\u30ec\u30ca\u30fc\u30b8\u3084\u547c\u5438\u8a13\u7df4\uff09\u3092\u6bce\u65e5\u7d9a\u3051\u308b\u3053\u3068\u304c\u3001\u6c17\u7ba1\u652f\u62e1\u5f35\u75c7\u306e\u9032\u884c\u3092\u9632\u3050\u571f\u53f0\u306b\u306a\u308a\u307e\u3059\u3002\u53bb\u75f0\u85ac\u3084\u9ad8\u5f35\u98df\u5869\u6c34\u306e\u5438\u5165\u3001\u611f\u67d3\u6642\u306e\u6297\u83cc\u85ac\u6cbb\u7642\u3082\u7d44\u307f\u5408\u308f\u305b\u308b\u3001\u5730\u9053\u306a\u65e5\u3005\u306e\u30b1\u30a2\u3002<\/p>\n\n\n\n<p>\u30a4\u30f3\u30d5\u30eb\u30a8\u30f3\u30b6\u30ef\u30af\u30c1\u30f3\u3084\u80ba\u708e\u7403\u83cc\u30ef\u30af\u30c1\u30f3\u306e\u63a5\u7a2e\u3082\u3001\u611f\u67d3\u4e88\u9632\u306e\u89b3\u70b9\u304b\u3089\u65e9\u3081\u306b\u6e08\u307e\u305b\u3066\u304a\u3044\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%80%B3%E9%BC%BB%E7%A7%91%E7%9A%84%E3%82%B1%E3%82%A2%E3%81%A8%E5%A6%8A%E5%A8%A0%E3%83%BB%E5%87%BA%E7%94%A3%E3%81%AE%E3%82%B5%E3%83%9D%E3%83%BC%E3%83%88\"><\/span>\u8033\u9f3b\u79d1\u7684\u30b1\u30a2\u3068\u598a\u5a20\u30fb\u51fa\u7523\u306e\u30b5\u30dd\u30fc\u30c8<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u4e2d\u8033\u708e\u306b\u5bfe\u3057\u3066\u306f\u3001\u9f13\u819c\u30c1\u30e5\u30fc\u30d6\u306e\u7559\u7f6e\u3084\u88dc\u8074\u5668\u3001\u8a00\u8a9e\u7642\u6cd5\u304c\u9078\u629e\u80a2\u306b\u306a\u308a\u307e\u3059\u3002\u8074\u529b\u306e\u72b6\u614b\u306f\u5b9a\u671f\u7684\u306b\u78ba\u8a8d\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<p>\u598a\u5a20\u3092\u671b\u3080\u7537\u6027\u306b\u306f\u3001\u4f53\u5916\u53d7\u7cbe\uff08\u9855\u5fae\u6388\u7cbe\u3092\u542b\u3080\uff09\u304c\u9078\u629e\u80a2\u3068\u306a\u308b\u3053\u3068\u304c\u591a\u304f\u3042\u308a\u307e\u3059\u3002\u5973\u6027\u306f\u5b50\u5bae\u5916\u598a\u5a20\u306e\u30ea\u30b9\u30af\u3092\u5ff5\u982d\u306b\u3001\u65e9\u3081\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/obgyn\/\">\u7523\u5a66\u4eba\u79d1<\/a>\u53d7\u8a3a\u3092\u5fc3\u304c\u3051\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%A0%94%E7%A9%B6%E3%81%8C%E9%80%B2%E3%82%80%E6%96%B0%E3%81%97%E3%81%84%E6%B2%BB%E7%99%82\"><\/span>\u7814\u7a76\u304c\u9032\u3080\u65b0\u3057\u3044\u6cbb\u7642<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>DNAI1\u3084DNAI2\u3092\u6a19\u7684\u306b\u3057\u305f\u907a\u4f1d\u5b50\u6cbb\u7642\u306e\u7814\u7a76\u304c\u3001\u30a6\u30a4\u30eb\u30b9\u30d9\u30af\u30bf\u30fc\u3084CRISPR\/Cas9\u6280\u8853\u3092\u7528\u3044\u3066\u9032\u3081\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u5b9f\u7528\u5316\u307e\u3067\u306b\u306f\u3001\u307e\u3060\u6642\u9593\u3092\u8981\u3059\u308b\u6bb5\u968e\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"6_%E4%BA%88%E5%BE%8C%E3%83%BB%E9%95%B7%E6%9C%9F%E7%9A%84%E3%81%AA%E8%A6%8B%E9%80%9A%E3%81%97\"><\/span><strong>6. \u4e88\u5f8c\u30fb\u9577\u671f\u7684\u306a\u898b\u901a\u3057<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u65e9\u671f\u8a3a\u65ad\u3068\u7d99\u7d9a\u7684\u306a\u547c\u5438\u5668\u7ba1\u7406\u306b\u3088\u308a\u3001\u591a\u304f\u306e\u65b9\u304c\u6210\u4eba\u5f8c\u3082\u5b89\u5b9a\u3057\u305f\u751f\u6d3b\u3092\u9001\u3063\u3066\u3044\u307e\u3059\u3002<\/strong>\u305f\u3060\u3057\u7d4c\u904e\u306f\u4e00\u4eba\u3072\u3068\u308a\u7570\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4e88\u5f8c\u3092\u5de6\u53f3\u3059\u308b\u306e\u306f\u3001\u8a3a\u65ad\u306e\u65e9\u3055\u3001\u547c\u5438\u5668\u5408\u4f75\u75c7\u306e\u9032\u884c\u5ea6\u3001\u5148\u5929\u6027\u5fc3\u75be\u60a3\u306e\u6709\u7121\u3001\u305d\u3057\u3066\u65e5\u3005\u306e\u611f\u67d3\u5bfe\u7b56\u306e\u7d99\u7d9a\u3002\u3053\u306e4\u70b9\u306b\u5c3d\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u91cd\u75c7\u306e\u6c17\u7ba1\u652f\u62e1\u5f35\u75c7\u304c\u9032\u3093\u3060\u5834\u5408\u3001\u4e2d\u5e74\u671f\u4ee5\u964d\u306b\u80ba\u79fb\u690d\u304c\u9078\u629e\u80a2\u3068\u306a\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u4e00\u5f8b\u306e\u898b\u901a\u3057\u3092\u793a\u3059\u3053\u3068\u306f\u96e3\u3057\u3044\u305f\u3081\u3001\u5b9a\u671f\u7684\u306a\u5c02\u9580\u5916\u6765\u3067\u306e\u30d5\u30a9\u30ed\u30fc\u30a2\u30c3\u30d7\u3092\u7d9a\u3051\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"7_%E4%BB%96%E3%81%AEPCD%E5%8E%9F%E5%9B%A0%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%A8%E3%81%AE%E9%81%95%E3%81%84%EF%BC%9ADNAH5%E3%81%AA%E3%81%A9%E3%81%A8%E3%81%AE%E6%AF%94%E8%BC%83\"><\/span><strong>7. \u4ed6\u306ePCD\u539f\u56e0\u907a\u4f1d\u5b50\u3068\u306e\u9055\u3044\uff1aDNAH5\u306a\u3069\u3068\u306e\u6bd4\u8f03<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>PCD\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u306f50\u7a2e\u985e\u8fd1\u304f\u77e5\u3089\u308c\u3066\u304a\u308a\u3001DNAI2\u306f\u305d\u306e\u3046\u3061\u306e\u4e00\u3064\u306b\u904e\u304e\u307e\u305b\u3093\u3002<\/strong>\u539f\u56e0\u907a\u4f1d\u5b50\u306b\u3088\u3063\u3066\u3001\u75c7\u72b6\u306e\u91cd\u3055\u3084\u7279\u5fb4\u306b\u9055\u3044\u304c\u307f\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6700\u3082\u983b\u5ea6\u304c\u9ad8\u3044\u306e\u306fDNAH5\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3067\u3001PCD\u5168\u4f53\u306e15\u301c20%\u7a0b\u5ea6\u3092\u5360\u3081\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002DNAH5\u3082\u540c\u3058\u5916\u5074\u30c0\u30a4\u30cb\u30f3\u8155\u306e\u69cb\u6210\u56e0\u5b50\u3067\u3059\u304c\u3001\u5909\u7570\u306e\u90e8\u4f4d\u3084\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u50cd\u304d\u306fDNAI2\u3068\u7570\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>CCDC39\u3084CCDC40\u306e\u5909\u7570\u306f\u3001\u7dda\u6bdb\u306e\u5185\u90e8\u69cb\u9020\u305d\u306e\u3082\u306e\u3092\u4e71\u3059\u30bf\u30a4\u30d7\u3067\u3059\u3002\u3088\u308a\u91cd\u3044\u6c17\u7ba1\u652f\u62e1\u5f35\u75c7\u3092\u4f34\u3044\u3084\u3059\u3044\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002RSPH1\u3084RSPH9\u306a\u3069\u306e\u5909\u7570\u3067\u306f\u3001\u6bd4\u8f03\u7684\u8efd\u75c7\u4f8b\u304c\u591a\u3044\u3053\u3068\u3082\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<figure class=\"wp-table-block\"><table><thead><tr><th>\u907a\u4f1d\u5b50<\/th><th>PCD\u306b\u5360\u3081\u308b\u5272\u5408\u306e\u76ee\u5b89<\/th><th>\u7279\u5fb4<\/th><\/tr><\/thead><tbody><tr><td>DNAH5<\/td><td>\u7d0415\u301c20%<\/td><td>\u5916\u5074\u30c0\u30a4\u30cb\u30f3\u8155\u306e\u69cb\u6210\u56e0\u5b50\u3002\u6700\u3082\u983b\u5ea6\u306e\u9ad8\u3044\u539f\u56e0\u907a\u4f1d\u5b50<\/td><\/tr><tr><td>DNAI2<\/td><td>2%\u672a\u6e80<\/td><td>\u5916\u5074\u30c0\u30a4\u30cb\u30f3\u8155\u306e\u69cb\u6210\u56e0\u5b50\u3002\u5730\u57df\u306b\u3088\u308a\u5275\u59cb\u8005\u5909\u7570\u306e\u5831\u544a\u3042\u308a<\/td><\/tr><tr><td>CCDC39\u30fbCCDC40<\/td><td>\u6570%\u7a0b\u5ea6<\/td><td>\u7dda\u6bdb\u5185\u90e8\u69cb\u9020\u306e\u7570\u5e38\u3002\u6c17\u7ba1\u652f\u62e1\u5f35\u75c7\u304c\u91cd\u304f\u306a\u308a\u3084\u3059\u3044<\/td><\/tr><tr><td>RSPH1\u30fbRSPH9<\/td><td>\u6570%\u7a0b\u5ea6<\/td><td>\u7dda\u6bdb\u982d\u90e8\u69cb\u9020\u306e\u7570\u5e38\u3002\u6bd4\u8f03\u7684\u8efd\u75c7\u4f8b\u304c\u591a\u3044<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<p>\u3069\u306e\u907a\u4f1d\u5b50\u304c\u539f\u56e0\u304b\u306b\u3088\u3063\u3066\u3001\u7dda\u6bdb\u306e\u7570\u5e38\u30d1\u30bf\u30fc\u30f3\u3084\u75c7\u72b6\u306e\u91cd\u3055\u306b\u9055\u3044\u304c\u751f\u307e\u308c\u307e\u3059\u3002\u78ba\u5b9a\u8a3a\u65ad\u306b\u306f\u3001\u96fb\u5b50\u9855\u5fae\u93e1\u3067\u306e\u89b3\u5bdf\u306b\u52a0\u3048\u3001\u539f\u56e0\u907a\u4f1d\u5b50\u3092\u7279\u5b9a\u3059\u308b\u907a\u4f1d\u5b50\u691c\u67fb\u304c\u6b20\u304b\u305b\u307e\u305b\u3093\u3002\u539f\u56e0\u907a\u4f1d\u5b50\u304c\u5206\u304b\u308c\u3070\u3001\u5bb6\u65cf\u5185\u3067\u306e\u518d\u767a\u30ea\u30b9\u30af\u8a55\u4fa1\u306b\u3082\u5f79\u7acb\u3061\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"8_NIPT%EF%BC%88%E6%96%B0%E5%9E%8B%E5%87%BA%E7%94%9F%E5%89%8D%E8%A8%BA%E6%96%AD%EF%BC%89%E3%81%A8DNAI2%E9%96%A2%E9%80%A3PCD%E3%81%AE%E9%96%A2%E4%BF%82\"><\/span><strong>8. NIPT\uff08\u65b0\u578b\u51fa\u751f\u524d\u8a3a\u65ad\uff09\u3068DNAI2\u95a2\u9023PCD\u306e\u95a2\u4fc2<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>DNAI2\u95a2\u9023PCD\u306f\u3001\u6a19\u6e96\u7684\u306aNIPT\u306e\u30d1\u30cd\u30eb\u3067\u306f\u5bfe\u8c61\u5916\u3068\u306a\u308b\u75c5\u6c17\u3067\u3059\u3002<\/strong>\u691c\u7d22\u3067\u3053\u306e\u30da\u30fc\u30b8\u306b\u305f\u3069\u308a\u7740\u3044\u305f\u65b9\u306b\u3068\u3063\u3066\u3001\u62bc\u3055\u3048\u3066\u304a\u304d\u305f\u3044\u30dd\u30a4\u30f3\u30c8\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u4e00\u822c\u7684\u306a<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-types-comparison-guide\/\">NIPT\u306e\u691c\u67fb\u7a2e\u985e<\/a>\u304c\u8abf\u3079\u3066\u3044\u308b\u306e\u306f\u300121\u30fb18\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/patau-syndrome\/\">13\u30c8\u30ea\u30bd\u30df\u30fc<\/a>\u3092\u306f\u3058\u3081\u3068\u3059\u308b\u67d3\u8272\u4f53\u306e\u300c\u6570\u300d\u306e\u5909\u5316\u304c\u4e2d\u5fc3\u3067\u3059\u3002\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30afNIPT\u3067\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u30fb\u91cd\u8907\u3092\u542b\u3080\u62e1\u5f35\u691c\u67fb\u3082\u63d0\u4f9b\u3057\u3066\u3044\u307e\u3059\u304c\u3001\u3053\u308c\u3089\u3082\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u6b20\u3051\u3066\u3044\u308b\u30fb\u91cd\u306a\u3063\u3066\u3044\u308b\u9818\u57df\u3092\u5bfe\u8c61\u3068\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>DNAI2\u95a2\u9023PCD\u306e\u3088\u3046\u306b\u30011\u3064\u306e\u907a\u4f1d\u5b50\u306e\u4e2d\u306e\u5909\u7570\u304c\u539f\u56e0\u3068\u306a\u308b\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u306f\u3001\u6a19\u6e96\u7684\u306aNIPT\u30d1\u30cd\u30eb\u3067\u306f\u539f\u7406\u4e0a\u3068\u3089\u3048\u306b\u304f\u3044\u5bfe\u8c61\u3067\u3059\u3002\u6bcd\u4f53\u8840\u4e2d\u306ecfDNA\u89e3\u6790\u3068\u3044\u3046\u4ed5\u7d44\u307f\u81ea\u4f53\u304c\u3001\u67d3\u8272\u4f53\u306e\u6570\u3084\u5927\u304d\u306a\u69cb\u9020\u306e\u5909\u5316\u3092\u6349\u3048\u308b\u3053\u3068\u306b\u9069\u3057\u3066\u3044\u308b\u305f\u3081\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30afNIPT\u306b\u306f\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3200\u7a2e\u4ee5\u4e0a\u3092\u5bfe\u8c61\u3068\u3057\u305f\u62e1\u5f35\u691c\u67fb\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u5bfe\u8c61\u3068\u306a\u308b\u75be\u60a3\u306e\u7bc4\u56f2\u306f\u9650\u3089\u308c\u3066\u3044\u307e\u3059\u3002DNAI2\u95a2\u9023PCD\u304c\u542b\u307e\u308c\u308b\u304b\u3069\u3046\u304b\u306f\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u4e2d\u3067\u500b\u5225\u306b\u3054\u78ba\u8a8d\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<p>\u3053\u3053\u3067\u62bc\u3055\u3048\u3066\u304a\u304d\u305f\u3044\u306e\u306f\u3001<strong>NIPT\u306f\u3042\u304f\u307e\u3067\u975e\u78ba\u5b9a\u7684\u306a\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u691c\u67fb<\/strong>\u3060\u3068\u3044\u3046\u70b9\u3067\u3059\u3002\u57fa\u672c\u30c8\u30ea\u30bd\u30df\u30fc\u306b\u5bfe\u3057\u3066\u306f\u9ad8\u3044\u691c\u51fa\u611f\u5ea6\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u3053\u308c\u306f\u67d3\u8272\u4f53\u306e\u6570\u306e\u5909\u5316\u3092\u5bfe\u8c61\u3068\u3057\u305f\u5834\u5408\u306e\u6570\u5024\u3067\u3042\u308a\u3001DNAI2\u306e\u3088\u3046\u306a\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u306e\u691c\u51fa\u80fd\u529b\u3092\u793a\u3059\u3082\u306e\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u3054\u5bb6\u65cf\u306b\u3059\u3067\u306bDNAI2\u95a2\u9023PCD\u306e\u8a3a\u65ad\u6b74\u304c\u3042\u308a\u3001\u6b21\u306e\u304a\u5b50\u3055\u3093\u3078\u306e\u5f71\u97ff\u3092\u5fc3\u914d\u3055\u308c\u3066\u3044\u308b\u5834\u5408\u306f\u3001\u78ba\u5b9a\u7684\u306a\u691c\u67fb\u304c\u9078\u629e\u80a2\u306b\u306a\u308a\u307e\u3059\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u3067DNAI2\u907a\u4f1d\u5b50\u3092\u6a19\u7684\u306b\u3057\u305f\u89e3\u6790\u3092\u884c\u3046\u3001\u3042\u308b\u3044\u306f\u7740\u5e8a\u524d\u907a\u4f1d\u5b66\u7684\u691c\u67fb\uff08PGT-M\uff09\u3092\u691c\u8a0e\u3059\u308b\u6d41\u308c\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u79c1\u81ea\u8eab\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u76f8\u8ac7\u3092\u53d7\u3051\u3066\u3044\u308b\u3068\u3001\u300cNIPT\u3092\u53d7\u3051\u308c\u3070\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u3082\u5b89\u5fc3\u304b\u300d\u3068\u3044\u3046\u8cea\u554f\u3092\u53d7\u3051\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u65e2\u77e5\u306e\u5bb6\u65cf\u6027\u75be\u60a3\u306b\u3064\u3044\u3066\u306f\u3001NIPT\u3067\u306f\u306a\u304f\u78ba\u5b9a\u691c\u67fb\u3067\u306e\u5bfe\u5fdc\u304c\u57fa\u672c\u306b\u306a\u308b\u3068\u304a\u4f1d\u3048\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u306a\u304a\u3001\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u306eNIPT\u691c\u67fb\u306f\u3001\u56fd\u5185\u306e\u691c\u67fb\u6a5f\u95a2\uff08\u6771\u4eac\u885b\u751f\u691c\u67fb\u6240\uff09\u3067\u5b9f\u65bd\u3057\u3066\u3044\u307e\u3059\u3002\u6700\u77ed2\u301c5\u65e5\u3068\u3044\u3046\u30b9\u30d4\u30fc\u30c9\u5831\u544a\u3082\u5f37\u307f\u3067\u3059\u304c\u3001\u5bfe\u8c61\u7bc4\u56f2\u306b\u3064\u3044\u3066\u4e0d\u660e\u306a\u70b9\u304c\u3042\u308c\u3070\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u4e2d\u3067\u3054\u8cea\u554f\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<\/div>\n\n\n\n    <a href=\"\/nipt\/nipt-intellectual-disability-statistics-probability\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u6570\u5b57\u3067\u898b\u308bNIPT\u3002\u77e5\u7684\u969c\u5bb3\u306e\u78ba\u7387\u30fb\u7684\u4e2d\u7387\u30fb\u9650\u754c <\/div>\n          <div class=\"blog-card-excerpt\">NIPT\u3067\u77e5\u7684\u969c\u5bb3\u304c\u5224\u660e\u3059\u308b\u78ba\u7387\u306f\u3069\u306e\u304f\u3089\u3044\u304b\uff1f35\u6b73\u300140\u6b73\u3068\u3044\u3063\u305f\u5e74\u9f62\u5225\u306e\u67d3\u8272\u4f53\u75be\u60a3\u767a\u751f\u7387\u3001\u691c\u67fb\u306e\u300c\u967d\u6027\u7684\u4e2d\u7387\u300d\u306e\u30ab\u30e9\u30af\u30ea\u3001\u305d\u3057\u3066\u77e5\u7684\u969c...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"9_%E5%A6%8A%E5%A8%A0%E3%83%BB%E5%87%BA%E7%94%A3%E3%82%92%E8%80%83%E3%81%88%E3%82%8B%E3%81%A8%E3%81%8D%E3%81%AB%E7%9F%A5%E3%81%A3%E3%81%A6%E3%81%8A%E3%81%8D%E3%81%9F%E3%81%84%E3%81%93%E3%81%A8\"><\/span><strong>9. \u598a\u5a20\u30fb\u51fa\u7523\u3092\u8003\u3048\u308b\u3068\u304d\u306b\u77e5\u3063\u3066\u304a\u304d\u305f\u3044\u3053\u3068<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>PCD\u3068\u8a3a\u65ad\u3055\u308c\u305f\u5f8c\u306f\u3001\u6cbb\u7642\u3068\u4e26\u884c\u3057\u3066\u516c\u7684\u306a\u652f\u63f4\u5236\u5ea6\u306e\u6d3b\u7528\u3092\u691c\u8a0e\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/strong>\u4e00\u4eba\u3067\u62b1\u3048\u8fbc\u3080\u5fc5\u8981\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u7dda\u6bdb\u6a5f\u80fd\u4e0d\u5168\u75c7\u5019\u7fa4\u306f\u6307\u5b9a\u96e3\u75c5340\u53f7\u306b\u6307\u5b9a\u3055\u308c\u3066\u304a\u308a\u3001\u91cd\u75c7\u5ea6\u57fa\u6e96\u3092\u6e80\u305f\u3059\u5834\u5408\u306f\u533b\u7642\u8cbb\u52a9\u6210\u306e\u5bfe\u8c61\u306b\u306a\u308a\u307e\u3059\u3002\u7533\u8acb\u306e\u53ef\u5426\u306f\u3001\u901a\u9662\u5148\u306e\u4e3b\u6cbb\u533b\u307e\u305f\u306f\u533b\u7642\u30bd\u30fc\u30b7\u30e3\u30eb\u30ef\u30fc\u30ab\u30fc\u306b\u78ba\u8a8d\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<p>\u304a\u5b50\u3055\u3093\u306e\u5834\u5408\u306f\u3001\u5c0f\u5150\u6162\u6027\u7279\u5b9a\u75be\u75c5\u306e\u5bfe\u8c61\u306b\u306a\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u7642\u80b2\u624b\u5e33\u3084\u8eab\u4f53\u969c\u5bb3\u8005\u624b\u5e33\u306e\u53d6\u5f97\u306f\u3001\u798f\u7949\u30b5\u30fc\u30d3\u30b9\u3084\u624b\u5f53\u306e\u53d7\u7d66\u306b\u3064\u306a\u304c\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3054\u5bb6\u65cf\u306b\u540c\u3058\u75c5\u6c17\u306e\u65b9\u304c\u3044\u308b\u5834\u5408\u3084\u3001\u8fd1\u89aa\u5a5a\u306e\u80cc\u666f\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u6b21\u306e\u598a\u5a20\u3092\u8003\u3048\u308b\u524d\u306b\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u4fdd\u56e0\u8005\u691c\u67fb\u306b\u3064\u3044\u3066\u76f8\u8ac7\u3057\u3066\u304f\u3060\u3055\u3044\u3002\u30d1\u30fc\u30c8\u30ca\u30fc\u3068\u306e\u9593\u3067\u30ea\u30b9\u30af\u3092\u5171\u6709\u3057\u3066\u304a\u304f\u3068\u5b89\u5fc3\u3067\u3059\u3002<\/p>\n\n\n\n<div class=\"wp-block-buttons is-content-justification-center is-layout-flex wp-container-core-buttons-is-layout-16018d1d wp-block-buttons-is-layout-flex\">\n<div class=\"wp-block-button\"><a class=\"wp-block-button__link wp-element-button\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/line-registration\/\" target=\"_blank\" rel=\"noopener\">LINE\u3067\u7121\u6599\u76f8\u8ac7\u3059\u308b<\/a><\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"10_%E3%81%BE%E3%81%A8%E3%82%81%EF%BC%9A%E8%A8%BA%E6%96%AD%E5%90%8D%E3%81%A8%E5%90%91%E3%81%8D%E5%90%88%E3%81%86%E3%81%9F%E3%82%81%E3%81%AB\"><\/span><strong>10. \u307e\u3068\u3081\uff1a\u8a3a\u65ad\u540d\u3068\u5411\u304d\u5408\u3046\u305f\u3081\u306b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>DNAI2\u95a2\u9023PCD\u306f\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u306b\u3088\u308b\u307e\u308c\u306a\u75be\u60a3\u3067\u3059\u304c\u3001\u539f\u56e0\u304c\u5206\u304b\u308c\u3070\u7ba1\u7406\u306e\u65b9\u91dd\u3092\u7acb\u3066\u3084\u3059\u304f\u306a\u308a\u307e\u3059\u3002<\/strong>\u8a3a\u65ad\u540d\u3060\u3051\u3067\u5c06\u6765\u3092\u6c7a\u3081\u3064\u3051\u308b\u5fc5\u8981\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u7dda\u6bdb\u306e\u7570\u5e38\u306b\u3088\u308a\u547c\u5438\u5668\u30fb\u5185\u81d3\u914d\u7f6e\u30fb\u751f\u6b96\u6a5f\u80fd\u306b\u5f71\u97ff\u304c\u53ca\u3073\u307e\u3059\u304c\u3001\u75c7\u72b6\u306e\u91cd\u3055\u306f\u65b9\u306b\u3088\u3063\u3066\u5e45\u304c\u3042\u308a\u307e\u3059\u3002\u65e9\u671f\u8a3a\u65ad\u3068\u7d99\u7d9a\u7684\u306a\u547c\u5438\u5668\u30b1\u30a2\u3067\u3001\u591a\u304f\u306e\u65b9\u304c\u5b89\u5b9a\u3057\u305f\u751f\u6d3b\u3092\u9001\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>DNAH5\u3084CCDC39\u306a\u3069\u3001\u4ed6\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u3068\u306e\u9055\u3044\u3092\u7406\u89e3\u3057\u3066\u304a\u304f\u3053\u3068\u3082\u3001\u6b63\u78ba\u306a\u60c5\u5831\u53ce\u96c6\u306b\u3064\u306a\u304c\u308a\u307e\u3059\u3002\u6a19\u6e96\u7684\u306aNIPT\u3067\u306f\u691c\u51fa\u3067\u304d\u306a\u3044\u75be\u60a3\u3067\u3042\u308b\u305f\u3081\u3001\u5bb6\u65cf\u6b74\u304c\u3042\u308b\u5834\u5408\u306f\u78ba\u5b9a\u691c\u67fb\u3084\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3092\u7a4d\u6975\u7684\u306b\u3054\u6d3b\u7528\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<p>\u75c7\u4f8b\u6570\u304c\u5c11\u306a\u3044\u5e0c\u5c11\u75be\u60a3\u3060\u304b\u3089\u3053\u305d\u3001\u5c02\u9580\u65bd\u8a2d\u3068\u306e\u7d99\u7d9a\u7684\u306a\u3064\u306a\u304c\u308a\u304c\u4f55\u3088\u308a\u306e\u652f\u3048\u3002\u7126\u3089\u305a\u3001\u4e00\u6b69\u305a\u3064\u5411\u304d\u5408\u3063\u3066\u3044\u304d\u307e\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%82%88%E3%81%8F%E3%81%82%E3%82%8B%E8%B3%AA%E5%95%8F\"><\/span><strong>\u3088\u304f\u3042\u308b\u8cea\u554f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%8E%9F%E7%99%BA%E6%80%A7%E7%B7%9A%E6%AF%9B%E6%A9%9F%E8%83%BD%E4%B8%8D%E5%85%A8%E7%97%87%EF%BC%88PCD%EF%BC%89%E3%81%A8DNAI2%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AF%E3%80%81%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E9%96%A2%E4%BF%82%E3%81%AB%E3%81%82%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u539f\u767a\u6027\u7dda\u6bdb\u6a5f\u80fd\u4e0d\u5168\u75c7\uff08PCD\uff09\u3068DNAI2\u907a\u4f1d\u5b50\u306f\u3001\u3069\u306e\u3088\u3046\u306a\u95a2\u4fc2\u306b\u3042\u308a\u307e\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>DNAI2\u907a\u4f1d\u5b50\u306f\u3001\u7dda\u6bdb\u3092\u52d5\u304b\u3059\u5916\u5074\u30c0\u30a4\u30cb\u30f3\u8155\u3092\u4f5c\u308b\u907a\u4f1d\u5b50\u306e\u4e00\u3064\u3067\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306b\u75c5\u7684\u5909\u7570\u304c\u3042\u308b\u3068\u7dda\u6bdb\u304c\u6b63\u3057\u304f\u52d5\u304b\u305a\u3001PCD\u3092\u767a\u75c7\u3057\u307e\u3059\u3002DNAI2\u5909\u7570\u304c\u539f\u56e0\u3068\u306a\u308b\u4f8b\u306f\u3001PCD\u5168\u4f53\u306e2%\u672a\u6e80\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"DNAI2%E9%96%A2%E9%80%A3PCD%E3%81%AF%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AB%E9%81%BA%E4%BC%9D%E3%81%97%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82%E6%AC%A1%E3%81%AE%E5%AD%90%E3%81%AB%E3%82%82%E5%BD%B1%E9%9F%BF%E3%81%97%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span>DNAI2\u95a2\u9023PCD\u306f\u3069\u306e\u3088\u3046\u306b\u907a\u4f1d\u3057\u307e\u3059\u304b\u3002\u6b21\u306e\u5b50\u306b\u3082\u5f71\u97ff\u3057\u307e\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u306e\u5f62\u5f0f\u3067\u53d7\u3051\u7d99\u304c\u308c\u307e\u3059\u3002\u4e21\u89aa\u304c\u3068\u3082\u306b\u5909\u7570\u30921\u3064\u305a\u3064\u4fdd\u6709\u3059\u308b\u4fdd\u56e0\u8005\u3067\u3042\u308b\u5834\u5408\u3001\u6b21\u306e\u304a\u5b50\u3055\u3093\u306b\u30824\u5206\u306e1\u306e\u78ba\u7387\u3067\u767a\u75c7\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002\u8a73\u3057\u3044\u78ba\u7387\u306f\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u3054\u78ba\u8a8d\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"DNAI2%E9%96%A2%E9%80%A3PCD%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>DNAI2\u95a2\u9023PCD\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\u30d1\u30cd\u30eb\u306e\u5bfe\u8c61\u306b\u306f\u542b\u307e\u308c\u307e\u305b\u3093\u3002\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u3067\u3042\u308a\u300121\u30fb18\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/patau-syndrome\/\">13\u30c8\u30ea\u30bd\u30df\u30fc<\/a>\u306a\u3069\u67d3\u8272\u4f53\u6570\u306e\u5909\u5316\u3092\u8abf\u3079\u308b\u4e00\u822c\u7684\u306aNIPT\u3067\u306f\u691c\u51fa\u3067\u304d\u306a\u3044\u305f\u3081\u3067\u3059\u3002\u5bb6\u65cf\u6b74\u304c\u3042\u308b\u5834\u5408\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u3084PGT-M\u304c\u9078\u629e\u80a2\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"DNAI2%E3%81%A8DNAH5%E3%81%AA%E3%81%A9%E3%80%81%E4%BB%96%E3%81%AEPCD%E5%8E%9F%E5%9B%A0%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%A8%E3%81%AE%E9%81%95%E3%81%84%E3%81%AF%E4%BD%95%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\"><\/span>DNAI2\u3068DNAH5\u306a\u3069\u3001\u4ed6\u306ePCD\u539f\u56e0\u907a\u4f1d\u5b50\u3068\u306e\u9055\u3044\u306f\u4f55\u3067\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3069\u3061\u3089\u3082\u5916\u5074\u30c0\u30a4\u30cb\u30f3\u8155\u3092\u69cb\u6210\u3059\u308b\u907a\u4f1d\u5b50\u3067\u3059\u304c\u3001DNAH5\u5909\u7570\u306fPCD\u5168\u4f53\u306e15\u301c20%\u7a0b\u5ea6\u3092\u5360\u3081\u3001\u983b\u5ea6\u304c\u6700\u3082\u9ad8\u3044\u539f\u56e0\u3067\u3059\u3002DNAI2\u5909\u7570\u306f2%\u672a\u6e80\u3068\u5c11\u306a\u304f\u3001\u5730\u57df\u306b\u3088\u3063\u3066\u306f\u5275\u59cb\u8005\u5909\u7570\u306e\u5831\u544a\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"PCD%E3%81%AB%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>PCD\u306b\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6839\u672c\u7684\u306b\u6cbb\u3059\u6cbb\u7642\u6cd5\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002\u6392\u75f0\u7642\u6cd5\u3084\u53bb\u75f0\u85ac\u3001\u611f\u67d3\u6642\u306e\u6297\u83cc\u85ac\u6cbb\u7642\u3001\u8033\u9f3b\u79d1\u7684\u306a\u30b1\u30a2\u3092\u7d44\u307f\u5408\u308f\u305b\u3001\u75c7\u72b6\u306e\u9032\u884c\u3092\u6291\u3048\u306a\u304c\u3089\u751f\u6d3b\u306e\u8cea\u3092\u4fdd\u3064\u3053\u3068\u304c\u6cbb\u7642\u306e\u76ee\u6a19\u3067\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%AB%E6%B0%97%E3%81%A5%E3%81%84%E3%81%9F%E3%81%A8%E3%81%8D%E3%80%81%E3%81%BE%E3%81%9A%E4%BD%95%E3%82%92%E3%81%99%E3%82%8C%E3%81%B0%E3%82%88%E3%81%84%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u75c7\u72b6\u306b\u6c17\u3065\u3044\u305f\u3068\u304d\u3001\u307e\u305a\u4f55\u3092\u3059\u308c\u3070\u3088\u3044\u3067\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u51fa\u751f\u76f4\u5f8c\u304b\u3089\u306e\u547c\u5438\u969c\u5bb3\u3084\u3001\u5185\u81d3\u9006\u4f4d\u3092\u6307\u6458\u3055\u308c\u305f\u5834\u5408\u306f\u3001\u5c0f\u5150\u79d1\u30fb\u547c\u5438\u5668\u79d1\u3092\u53d7\u8a3a\u3057\u3001\u9f3b\u4e00\u9178\u5316\u7a92\u7d20\u6e2c\u5b9a\u3084\u907a\u4f1d\u5b50\u691c\u67fb\u3092\u76f8\u8ac7\u3057\u3066\u304f\u3060\u3055\u3044\u3002\u6307\u5b9a\u96e3\u75c5\u306e\u533b\u7642\u8cbb\u52a9\u6210\u306b\u3064\u3044\u3066\u3082\u3001\u3042\u308f\u305b\u3066\u78ba\u8a8d\u3057\u3066\u304a\u304f\u3068\u5b89\u5fc3\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%BC%95%E7%94%A8%E6%96%87%E7%8C%AE%EF%BD%9CReferences\"><\/span>\u5f15\u7528\u6587\u732e\uff5cReferences<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1122\/\" target=\"_blank\" rel=\"noopener\">Zariwala MA, Despotes KA, Davis SD. Primary Ciliary Dyskinesia. 2007 Jan 24 [Updated 2025 May 22]. In: GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle.<\/a><\/li>\n\n\n<li><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/28601\" target=\"_blank\" rel=\"noopener\">\u96e3\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc\u300c\u7dda\u6bdb\u6a5f\u80fd\u4e0d\u5168\u75c7\u5019\u7fa4\uff08\u30ab\u30eb\u30bf\u30b2\u30ca\u30fc\u75c7\u5019\u7fa4\u3092\u542b\u3080\u3002\uff09\uff08\u6307\u5b9a\u96e3\u75c5340\uff09\u300d<\/a><\/li>\n\n\n<li><a href=\"https:\/\/medlineplus.gov\/genetics\/condition\/primary-ciliary-dyskinesia\/\" target=\"_blank\" rel=\"noopener\">MedlinePlus Genetics\u300cPrimary ciliary dyskinesia\u300d<\/a><\/li>\n\n\n<li><a href=\"https:\/\/www.jrs.or.jp\/information\/jrs\/20240301121107.html\" target=\"_blank\" rel=\"noopener\">\u4e00\u822c\u793e\u56e3\u6cd5\u4eba\u65e5\u672c\u547c\u5438\u5668\u5b66\u4f1a\u300c\u7dda\u6bdb\u6a5f\u80fd\u4e0d\u5168\u75c7\u5019\u7fa4\u304c\u65b0\u305f\u306a\u6307\u5b9a\u96e3\u75c5\u306b\u6307\u5b9a\u3055\u308c\u307e\u3057\u305f\u3002\u300d<\/a><\/li>\n\n\n<li><a href=\"https:\/\/doi.org\/10.3389\/fgene.2022.1017280\" target=\"_blank\" rel=\"noopener\">Al-Mutairi DA, et al. Identification of a Novel Founder Variant in DNAI2 Cause Primary Ciliary Dyskinesia in Five Consanguineous Families. Frontiers in Genetics, 2022.<\/a><\/li>\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.anl.2024.02.001\" target=\"_blank\" rel=\"noopener\">Takeuchi K, et al. Practical Guide for the Diagnosis and Management of Primary Ciliary Dyskinesia. Auris Nasus Larynx, 2024.<\/a><\/li>\n<\/ul>\n\n\n\n<p><strong>\u76e3\u4fee\uff1a\u5ca1\u535a\u53f2\uff08\u304a\u304b \u3072\u308d\u3057\uff09<\/strong> \uff0f \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\u3002\u65e5\u672c\u306b20\u4eba\u307b\u3069\u3057\u304b\u3044\u306a\u3044\u30e9\u30dc\u30c7\u30a3\u30ec\u30af\u30bf\u30fc\u8cc7\u683c\u3092\u4fdd\u6709\u3002\u672c\u8a18\u4e8b\u306fGeneReviews\u3001\u96e3\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc\u3001\u65e5\u672c\u547c\u5438\u5668\u5b66\u4f1a\u306a\u3069\u306e\u516c\u7684\u30fb\u5b66\u8853\u60c5\u5831\u3092\u53c2\u7167\u3057\u3066\u4f5c\u6210\u3057\u3066\u3044\u307e\u3059\u3002\u75c7\u4f8b\u6570\u306e\u5c11\u306a\u3044\u5e0c\u5c11\u75be\u60a3\u306e\u305f\u3081\u3001\u8a18\u8f09\u306e\u983b\u5ea6\u30fb\u7d4c\u904e\u306f\u6587\u732e\u306b\u3088\u308a\u5e45\u304c\u3042\u308a\u307e\u3059\u3002\u8a3a\u65ad\u30fb\u6cbb\u7642\u306e\u6700\u7d42\u5224\u65ad\u306f\u62c5\u5f53\u533b\u306b\u3054\u76f8\u8ac7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%82%AD%E3%83%BC%E3%83%AF%E3%83%BC%E3%83%89%EF%BD%9CKeywords\"><\/span>\u30ad\u30fc\u30ef\u30fc\u30c9\uff5cKeywords<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p class=\"has-text-align-center\"><sup><sup>\u539f\u767a\u6027\u7dda\u6bdb\u6a5f\u80fd\u4e0d\u5168\u75c7, PCD, DNAI2, \u5916\u5074\u30c0\u30a4\u30cb\u30f3\u8155, Outer Dynein Arm, \u7dda\u6bdb\u6a5f\u80fd\u4e0d\u5168\u75c7\u5019\u7fa4, \u30ab\u30eb\u30bf\u30b2\u30ca\u30fc\u75c7\u5019\u7fa4, \u6307\u5b9a\u96e3\u75c5340, \u5185\u81d3\u9006\u4f4d, \u7570\u6240\u6027, \u4e0d\u598a, \u6c17\u7ba1\u652f\u62e1\u5f35\u75c7, \u9f3b\u4e00\u9178\u5316\u7a92\u7d20, DNAH5, CCDC39, RSPH1, \u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d, <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>, \u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3, \u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/sup><\/sup><\/p>\n\n\n\n<script type=\"application\/ld+json\">\n{\n  \"@context\": \"https:\/\/schema.org\",\n  \"@type\": \"WebPage\",\n  \"@id\": \"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-ciliary-dyskinesia-dnai2#webpage\",\n  \"url\": \"https:\/\/www.hiro-clinic.or.jp\/nipt\/primary-ciliary-dyskinesia-dnai2\",\n  \"name\": \"\u539f\u767a\u6027\u7dda\u6bdb\u6a5f\u80fd\u4e0d\u5168\u75c7\u3068DNAI2\u907a\u4f1d\u5b50\uff5c\u75c7\u72b6\u30fb\u8a3a\u65ad\u30fbNIPT\u3068\u306e\u95a2\u4fc2\uff5c\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\",\n  \"description\": \"DNAI2\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3067\u8d77\u3053\u308b\u539f\u767a\u6027\u7dda\u6bdb\u6a5f\u80fd\u4e0d\u5168\u75c7\uff08PCD\uff09\u306b\u3064\u3044\u3066\u3001\u75c7\u72b6\u30fb\u8a3a\u65ad\u30fb\u6cbb\u7642\u3001\u4ed6\u306ePCD\u539f\u56e0\u907a\u4f1d\u5b50\u3068\u306e\u9055\u3044\u3001NIPT\u3068\u306e\u95a2\u4fc2\u3092\u533b\u5e2b\u76e3\u4fee\u3067\u3084\u3055\u3057\u304f\u89e3\u8aac\u3057\u307e\u3059\u3002\",\n  \"inLanguage\": \"ja\",\n  \"isPartOf\": {\n    \"@type\": \"WebSite\",\n    \"name\": 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\"associatedAnatomy\": {\n      \"@type\": \"AnatomicalStructure\",\n      \"name\": \"\u7dda\u6bdb\uff08Cilia\uff09\"\n    }\n  },\n  \"headline\": \"\u539f\u767a\u6027\u7dda\u6bdb\u6a5f\u80fd\u4e0d\u5168\u75c7\u3068DNAI2\u907a\u4f1d\u5b50\uff5c\u75c7\u72b6\u30fb\u8a3a\u65ad\u30fbNIPT\u3068\u306e\u95a2\u4fc2\uff5c\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\",\n  \"datePublished\": \"2025-07-02\",\n  \"author\": { \"@type\": \"Person\", \"name\": \"\u5ca1\u535a\u53f2\" },\n  \"publisher\": {\n    \"@type\": \"Organization\",\n    \"name\": \"\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\",\n    \"url\": \"https:\/\/www.hiro-clinic.or.jp\/\"\n  },\n  \"citation\": [\n    { \"@type\": \"ScholarlyArticle\", \"name\": \"Primary Ciliary Dyskinesia (GeneReviews)\", \"url\": \"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1122\/\" },\n    { \"@type\": \"WebPage\", \"name\": \"\u7dda\u6bdb\u6a5f\u80fd\u4e0d\u5168\u75c7\u5019\u7fa4\uff08\u6307\u5b9a\u96e3\u75c5340\uff09\", \"url\": \"https:\/\/www.nanbyou.or.jp\/entry\/28601\" },\n    { \"@type\": \"WebPage\", \"name\": \"Orphanet: Primary ciliary dyskinesia\", \"url\": \"https:\/\/www.orpha.net\/en\/disease\/detail\/244\" },\n    { \"@type\": \"WebPage\", \"name\": \"MedlinePlus Genetics: Primary ciliary dyskinesia\", \"url\": \"https:\/\/medlineplus.gov\/genetics\/condition\/primary-ciliary-dyskinesia\/\" }\n  ]\n}\n<\/script>\n<script type=\"application\/ld+json\">\n{\n  \"@context\": \"https:\/\/schema.org\",\n  \"@type\": \"FAQPage\",\n  \"mainEntity\": [\n    {\n      \"@type\": \"Question\",\n      \"name\": \"\u539f\u767a\u6027\u7dda\u6bdb\u6a5f\u80fd\u4e0d\u5168\u75c7\uff08PCD\uff09\u3068DNAI2\u907a\u4f1d\u5b50\u306f\u3001\u3069\u306e\u3088\u3046\u306a\u95a2\u4fc2\u306b\u3042\u308a\u307e\u3059\u304b\u3002\",\n      \"acceptedAnswer\": {\n        \"@type\": \"Answer\",\n        \"text\": 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