{"id":123265,"date":"2026-01-16T12:07:47","date_gmt":"2026-01-16T03:07:47","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=123265"},"modified":"2026-07-21T05:31:02","modified_gmt":"2026-07-20T20:31:02","slug":"dystonia-deafness-syndrome-type1-guide","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/dystonia-deafness-syndrome-type1-guide\/","title":{"rendered":"\u30b8\u30b9\u30c8\u30cb\u30a2\u30fb\u96e3\u8074\u75c7\u5019\u7fa41\u578b\uff08Dystonia-Deafness Syndrome 1\uff09"},"content":{"rendered":"\n<p>\u533b\u5e2b\u304b\u3089\u30b8\u30b9\u30c8\u30cb\u30a2\u30fb\u96e3\u8074\u75c7\u5019\u7fa41\u578b\u3001\u3042\u308b\u3044\u306f\u30e2\u30fc\u30eb\u30fb\u30c8\u30e9\u30fc\u30cd\u30d3\u30e3\u30fc\u30b0\u75c7\u5019\u7fa4\uff08Mohr-Tranebj\u00e6rg syndrome\uff09\u3068\u3044\u3046\u975e\u5e38\u306b\u7a00\u306a\u8a3a\u65ad\u540d\u3092\u544a\u3052\u3089\u308c\u3001\u60c5\u5831\u3092\u6c42\u3081\u3066\u3053\u306e\u30da\u30fc\u30b8\u306b\u305f\u3069\u308a\u7740\u3044\u305f\u3054\u5bb6\u65cf\u306e\u7686\u69d8\u3078\u3002<\/p>\n\n\n\n<p>\u304a\u5b50\u69d8\u306e\u8033\u306e\u805e\u3053\u3048\u304c\u60aa\u304f\u306a\u3063\u3066\u304d\u305f\u3053\u3068\u3084\u3001\u624b\u8db3\u306e\u52d5\u304d\u306b\u9055\u548c\u611f\u304c\u3042\u308b\u3053\u3068\u306b\u6c17\u3065\u3044\u3066\u53d7\u8a3a\u3055\u308c\u3001\u691c\u67fb\u306e\u7d50\u679c\u3053\u306e\u8a3a\u65ad\u306b\u305f\u3069\u308a\u7740\u304b\u308c\u305f\u3053\u3068\u3068\u601d\u3044\u307e\u3059\u3002\u521d\u3081\u3066\u805e\u304f\u75c5\u540d\u306b\u6238\u60d1\u3044\u3001\u3053\u308c\u304b\u3089\u3069\u3046\u306a\u3063\u3066\u3044\u304f\u306e\u304b\u3068\u3044\u3046\u5927\u304d\u306a\u4e0d\u5b89\u306e\u4e2d\u306b\u3044\u3089\u3063\u3057\u3083\u308b\u3053\u3068\u3067\u3057\u3087\u3046\u3002\u7279\u306b\u3053\u306e\u75c5\u6c17\u306f\u4e16\u754c\u7684\u306b\u898b\u3066\u3082\u60a3\u8005\u6570\u304c\u5c11\u306a\u3044\u5e0c\u5c11\u75be\u60a3\u3067\u3042\u308b\u305f\u3081\u3001\u65e5\u672c\u8a9e\u3067\u66f8\u304b\u308c\u305f\u8a73\u3057\u3044\u60c5\u5831\u306f\u9650\u3089\u308c\u3066\u304a\u308a\u3001\u30a4\u30f3\u30bf\u30fc\u30cd\u30c3\u30c8\u3067\u691c\u7d22\u3057\u3066\u3082\u5c02\u9580\u7684\u306a\u533b\u5b66\u8ad6\u6587\u3070\u304b\u308a\u304c\u51fa\u3066\u304d\u3066\u3057\u307e\u3044\u3001\u5b64\u72ec\u3092\u611f\u3058\u3066\u3057\u307e\u3063\u3066\u3044\u308b\u65b9\u3082\u3044\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u30b8\u30b9\u30c8\u30cb\u30a2\u30fb\u96e3\u8074\u75c7\u5019\u7fa41\u578b\u306f\u3001\u305d\u306e\u540d\u306e\u901a\u308a\u3001\u8033\u306e\u805e\u3053\u3048\u306b\u304f\u3055\u3067\u3042\u308b\u96e3\u8074\u3068\u3001\u81ea\u5206\u306e\u610f\u601d\u3068\u306f\u95a2\u4fc2\u306a\u304f\u7b4b\u8089\u306b\u529b\u304c\u5165\u3063\u3066\u3057\u307e\u3046\u30b8\u30b9\u30c8\u30cb\u30a2\u3068\u3044\u3046\u4e8c\u3064\u306e\u75c7\u72b6\u304c\u7d44\u307f\u5408\u308f\u3055\u3063\u3066\u73fe\u308c\u308b\u75c5\u6c17\u3067\u3059\u3002\u3053\u306e\u75c5\u6c17\u306f\u907a\u4f1d\u5b50\u306e\u5909\u5316\u306b\u3088\u3063\u3066\u7d30\u80de\u306e\u4e2d\u306b\u3042\u308b\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u3068\u3044\u3046\u5668\u5b98\u306e\u50cd\u304d\u306b\u5f71\u97ff\u304c\u51fa\u308b\u3053\u3068\u3067\u8d77\u3053\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u304b\u3064\u3066\u306f\u539f\u56e0\u4e0d\u660e\u3068\u3055\u308c\u3066\u3044\u307e\u3057\u305f\u304c\u3001\u533b\u5b66\u306e\u9032\u6b69\u306b\u3088\u308a\u539f\u56e0\u3068\u306a\u308b\u907a\u4f1d\u5b50\u304c\u7279\u5b9a\u3055\u308c\u3001\u75c5\u6c17\u306e\u30e1\u30ab\u30cb\u30ba\u30e0\u304c\u5c11\u3057\u305a\u3064\u89e3\u660e\u3055\u308c\u3066\u304d\u307e\u3057\u305f\u3002\u305d\u308c\u306b\u4f34\u3044\u3001\u4eba\u5de5\u5185\u8033\u306b\u3088\u308b\u8074\u529b\u306e\u56de\u5fa9\u3084\u3001\u8133\u6df1\u90e8\u523a\u6fc0\u7642\u6cd5\u306b\u3088\u308b\u904b\u52d5\u75c7\u72b6\u306e\u6539\u5584\u306a\u3069\u3001\u751f\u6d3b\u306e\u8cea\u3092\u9ad8\u3081\u308b\u305f\u3081\u306e\u6cbb\u7642\u306e\u9078\u629e\u80a2\u3082\u5897\u3048\u3066\u304d\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<div class=\"hiro-point-box\" style=\"border:2px solid #e8608a;border-radius:12px;padding:1.2em 1.5em;margin:1.5em 0;background:#fff5f8;\">\n<p style=\"font-weight:bold;color:#e8608a;margin:0 0 .5em;\">\u3053\u306e\u8a18\u4e8b\u3067\u308f\u304b\u308b\u3053\u3068<\/p>\n<ul style=\"margin:0;padding-left:1.2em;\">\n<li>\u30b8\u30b9\u30c8\u30cb\u30a2\u30fb\u96e3\u8074\u75c7\u5019\u7fa41\u578b\uff08DDS1\uff09\u306e\u75c7\u72b6\u304c\u73fe\u308c\u308b\u9806\u756a\u3068\u6642\u671f<\/li>\n<li>\u539f\u56e0\u907a\u4f1d\u5b50TIMM8A\u3068\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u306e\u50cd\u304d\u304c\u4f4e\u4e0b\u3059\u308b\u4ed5\u7d44\u307f<\/li>\n<li>\u78ba\u5b9a\u8a3a\u65ad\u307e\u3067\u306e\u691c\u67fb\u306e\u6d41\u308c\u3068\u3001\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u306e\u4f4d\u7f6e\u3065\u3051<\/li>\n<li>\u4eba\u5de5\u5185\u8033\u3084DBS\u306a\u3069\u3001\u751f\u6d3b\u306e\u8cea\u3092\u9ad8\u3081\u308b\u305f\u3081\u306e\u6cbb\u7642\u306e\u9078\u629e\u80a2<\/li>\n<li>\u901a\u5e38\u306eNIPT\u3067\u308f\u304b\u308b\u3053\u3068\u30fb\u308f\u304b\u3089\u306a\u3044\u3053\u3068\u3068\u3001\u6b21\u306e\u598a\u5a20\u306e\u76f8\u8ac7\u5148<\/li>\n<\/ul>\n<\/div>\n\n\n\n\n\n\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_85 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">\u76ee\u6b21<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" height=\"10px\" viewBox=\"0 0 24 24\" version=\"1.2\" baseProfile=\"tiny\"><path 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\u8996\u899a\u306e\u75c7\u72b6<\/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\/dystonia-deafness-syndrome-type1-guide\/#4_%E7%B2%BE%E7%A5%9E%E3%83%BB%E7%A5%9E%E7%B5%8C%E9%9D%A2%E3%81%AE%E7%97%87%E7%8A%B6\" >4. \u7cbe\u795e\u30fb\u795e\u7d4c\u9762\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-7\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/dystonia-deafness-syndrome-type1-guide\/#%E5%8E%9F%E5%9B%A0\" >\u539f\u56e0<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/dystonia-deafness-syndrome-type1-guide\/#TIMM8A%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AE%E5%A4%89%E7%95%B0\" >TIMM8A\u907a\u4f1d\u5b50\u306e\u5909\u7570<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/dystonia-deafness-syndrome-type1-guide\/#%E3%83%9F%E3%83%88%E3%82%B3%E3%83%B3%E3%83%89%E3%83%AA%E3%82%A2%E3%81%AE%E6%A9%9F%E8%83%BD%E4%B8%8D%E5%85%A8\" >\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u306e\u6a5f\u80fd\u4e0d\u5168<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/dystonia-deafness-syndrome-type1-guide\/#%E9%81%BA%E4%BC%9D%E3%81%AE%E3%81%97%E3%81%8F%E3%81%BF%EF%BC%88X%E9%80%A3%E9%8E%96%E6%80%A7%E6%BD%9C%E6%80%A7%E9%81%BA%E4%BC%9D%EF%BC%89\" >\u907a\u4f1d\u306e\u3057\u304f\u307f\uff08X\u9023\u9396\u6027\u6f5c\u6027\u907a\u4f1d\uff09<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/dystonia-deafness-syndrome-type1-guide\/#%E8%A8%BA%E6%96%AD%E3%81%A8%E6%A4%9C%E6%9F%BB\" >\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-12\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/dystonia-deafness-syndrome-type1-guide\/#1_%E5%95%8F%E8%A8%BA%E3%81%A8%E8%87%A8%E5%BA%8A%E7%97%87%E7%8A%B6%E3%81%AE%E7%A2%BA%E8%AA%8D\" >1. \u554f\u8a3a\u3068\u81e8\u5e8a\u75c7\u72b6\u306e\u78ba\u8a8d<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-13\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/dystonia-deafness-syndrome-type1-guide\/#2_%E8%81%B4%E8%A6%9A%E6%A4%9C%E6%9F%BB\" >2. \u8074\u899a\u691c\u67fb<\/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\/dystonia-deafness-syndrome-type1-guide\/#3_%E7%94%BB%E5%83%8F%E6%A4%9C%E6%9F%BB%EF%BC%88MRI%EF%BC%89\" >3. \u753b\u50cf\u691c\u67fb\uff08MRI\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\/dystonia-deafness-syndrome-type1-guide\/#4_%E9%81%BA%E4%BC%9D%E5%AD%A6%E7%9A%84%E6%A4%9C%E6%9F%BB\" >4. \u907a\u4f1d\u5b66\u7684\u691c\u67fb<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/dystonia-deafness-syndrome-type1-guide\/#%E6%B2%BB%E7%99%82%E3%81%A8%E7%AE%A1%E7%90%86\" >\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-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/dystonia-deafness-syndrome-type1-guide\/#1_%E8%81%B4%E8%A6%9A%E3%81%AB%E5%AF%BE%E3%81%99%E3%82%8B%E6%B2%BB%E7%99%82\" >1. \u8074\u899a\u306b\u5bfe\u3059\u308b\u6cbb\u7642<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-18\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/dystonia-deafness-syndrome-type1-guide\/#2_%E3%82%B8%E3%82%B9%E3%83%88%E3%83%8B%E3%82%A2%E3%81%AB%E5%AF%BE%E3%81%99%E3%82%8B%E6%B2%BB%E7%99%82\" >2. \u30b8\u30b9\u30c8\u30cb\u30a2\u306b\u5bfe\u3059\u308b\u6cbb\u7642<\/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\/dystonia-deafness-syndrome-type1-guide\/#3_%E3%83%AA%E3%83%8F%E3%83%93%E3%83%AA%E3%83%86%E3%83%BC%E3%82%B7%E3%83%A7%E3%83%B3\" >3. \u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3<\/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\/dystonia-deafness-syndrome-type1-guide\/#4_%E3%81%9D%E3%81%AE%E4%BB%96%E3%81%AE%E3%82%B1%E3%82%A2\" >4. \u305d\u306e\u4ed6\u306e\u30b1\u30a2<\/a><\/li><\/ul><\/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\/dystonia-deafness-syndrome-type1-guide\/#%E5%AE%B6%E6%97%8F%E3%81%AE%E5%A6%8A%E5%A8%A0%E8%A8%88%E7%94%BB%E3%81%A8NIPT%E3%83%BB%E9%81%BA%E4%BC%9D%E3%82%AB%E3%82%A6%E3%83%B3%E3%82%BB%E3%83%AA%E3%83%B3%E3%82%B0%E3%81%AE%E5%BD%B9%E5%89%B2\" >\u5bb6\u65cf\u306e\u598a\u5a20\u8a08\u753b\u3068NIPT\u30fb\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u5f79\u5272<\/a><\/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\/dystonia-deafness-syndrome-type1-guide\/#%E3%82%88%E3%81%8F%E3%81%82%E3%82%8B%E8%B3%AA%E5%95%8F\" >\u3088\u304f\u3042\u308b\u8cea\u554f<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-23\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/dystonia-deafness-syndrome-type1-guide\/#Q_DDS1%E3%81%AF%E6%B2%BB%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\" >Q. DDS1\u306f\u6cbb\u308a\u307e\u3059\u304b\uff1f<\/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\/dystonia-deafness-syndrome-type1-guide\/#Q_%E3%81%8D%E3%82%87%E3%81%86%E3%81%A0%E3%81%84%E3%81%AB%E3%82%82%E9%81%BA%E4%BC%9D%E3%81%97%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\" >Q. \u304d\u3087\u3046\u3060\u3044\u306b\u3082\u907a\u4f1d\u3057\u307e\u3059\u304b\uff1f<\/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\/dystonia-deafness-syndrome-type1-guide\/#Q_%E9%80%9A%E5%B8%B8%E3%81%AENIPT%E3%81%A7DDS1%E3%81%AF%E3%82%8F%E3%81%8B%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\" >Q. \u901a\u5e38\u306eNIPT\u3067DDS1\u306f\u308f\u304b\u308a\u307e\u3059\u304b\uff1f<\/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\/dystonia-deafness-syndrome-type1-guide\/#Q_%E4%BA%BA%E5%B7%A5%E5%86%85%E8%80%B3%E3%81%AF%E3%81%84%E3%81%A4%E9%A0%83%E6%A4%9C%E8%A8%8E%E3%81%97%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\" >Q. \u4eba\u5de5\u5185\u8033\u306f\u3044\u3064\u9803\u691c\u8a0e\u3057\u307e\u3059\u304b\uff1f<\/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\/dystonia-deafness-syndrome-type1-guide\/#Q_%E5%A5%B3%E6%80%A7%E4%BF%9D%E5%9B%A0%E8%80%85%E3%81%AB%E7%97%87%E7%8A%B6%E3%81%AF%E5%87%BA%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\" >Q. \u5973\u6027\u4fdd\u56e0\u8005\u306b\u75c7\u72b6\u306f\u51fa\u307e\u3059\u304b\uff1f<\/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\/dystonia-deafness-syndrome-type1-guide\/#Q_%E5%AE%B6%E6%97%8F%E6%80%A7%E3%81%AE%E5%A4%89%E7%95%B0%E3%81%8C%E3%82%8F%E3%81%8B%E3%81%A3%E3%81%9F%E3%82%89%E3%80%81%E6%AC%A1%E3%81%AE%E5%A6%8A%E5%A8%A0%E3%81%AF%E3%81%A9%E3%81%86%E3%81%99%E3%82%8C%E3%81%B0%E3%81%84%E3%81%84%E3%81%A7%E3%81%99%E3%81%8B%EF%BC%9F\" >Q. \u5bb6\u65cf\u6027\u306e\u5909\u7570\u304c\u308f\u304b\u3063\u305f\u3089\u3001\u6b21\u306e\u598a\u5a20\u306f\u3069\u3046\u3059\u308c\u3070\u3044\u3044\u3067\u3059\u304b\uff1f<\/a><\/li><\/ul><\/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\/dystonia-deafness-syndrome-type1-guide\/#%E3%81%BE%E3%81%A8%E3%82%81\" >\u307e\u3068\u3081<\/a><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%A6%82%E8%A6%81%EF%BC%9A%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E7%97%85%E6%B0%97%E3%81%8B\"><\/span><strong>\u6982\u8981\uff1a\u3069\u306e\u3088\u3046\u306a\u75c5\u6c17\u304b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u30b8\u30b9\u30c8\u30cb\u30a2\u30fb\u96e3\u8074\u75c7\u5019\u7fa41\u578b\u306f\u3001\u9032\u884c\u6027\u306e\u96e3\u8074\u3068\u30b8\u30b9\u30c8\u30cb\u30a2\u3092\u4e3b\u306a\u7279\u5fb4\u3068\u3059\u308b\u3001X\u9023\u9396\u6027\u6f5c\u6027\u907a\u4f1d\u306e\u5e0c\u5c11\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002<\/strong>\u533b\u5b66\u7684\u306b\u306fMohr-Tranebj\u00e6rg syndrome\uff08\u30e2\u30fc\u30eb\u30fb\u30c8\u30e9\u30fc\u30cd\u30d3\u30e3\u30fc\u30b0\u75c7\u5019\u7fa4\uff09\u3068\u547c\u3070\u308c\u308b\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\u3001DDS1\u3068\u3044\u3046\u7565\u79f0\u3067\u3082\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306f\u3001\u9032\u884c\u6027\u306e\u611f\u97f3\u96e3\u8074\uff08\u5185\u8033\u3084\u795e\u7d4c\u306e\u554f\u984c\u306b\u3088\u308b\u96e3\u8074\uff09\u3068\u3001\u30b8\u30b9\u30c8\u30cb\u30a2\uff08\u7b4b\u8089\u306e\u7dca\u5f35\u7570\u5e38\uff09\u3092\u4e3b\u306a\u7279\u5fb4\u3068\u3059\u308b\u3001X\u9023\u9396\u6027\u6f5c\u6027\u907a\u4f1d\u3068\u3044\u3046\u5f62\u5f0f\u3092\u3068\u308b\u907a\u4f1d\u6027\u306e\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>X\u9023\u9396\u6027\u6f5c\u6027\u907a\u4f1d\u3068\u306f\u3001\u6027\u67d3\u8272\u4f53\u3067\u3042\u308bX\u67d3\u8272\u4f53\u306b\u3042\u308b\u907a\u4f1d\u5b50\u306e\u5909\u5316\u306b\u3088\u3063\u3066\u8d77\u3053\u308b\u3082\u306e\u3067\u3001\u57fa\u672c\u7684\u306b\u306f\u7537\u6027\u306b\u767a\u75c7\u3057\u307e\u3059\u3002\u5973\u6027\u306f\u4fdd\u56e0\u8005\u3068\u3044\u3063\u3066\u907a\u4f1d\u5b50\u306e\u5909\u5316\u3092\u6301\u3063\u3066\u3044\u3066\u3082\u767a\u75c7\u3057\u306a\u3044\u304b\u3001\u3054\u304f\u8efd\u5ea6\u306e\u75c7\u72b6\u3067\u6e08\u3080\u3053\u3068\u304c\u307b\u3068\u3093\u3069\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u75c5\u6c17\u306e\u7d4c\u904e\u3068\u3057\u3066\u306f\u3001\u307e\u305a\u5e7c\u5c11\u671f\u306b\u8033\u306e\u805e\u3053\u3048\u304c\u60aa\u304f\u306a\u308b\u3053\u3068\u304b\u3089\u59cb\u307e\u308a\u307e\u3059\u3002\u305d\u306e\u5f8c\u3001\u3057\u3070\u3089\u304f\u6642\u9593\u304c\u7d4c\u3063\u3066\u304b\u3089\u3001\u601d\u6625\u671f\u3042\u308b\u3044\u306f\u9752\u5e74\u671f\u306b\u306a\u3063\u3066\u7b4b\u8089\u306e\u52d5\u304d\u306e\u75c7\u72b6\u304c\u73fe\u308c\u59cb\u3081\u308b\u3068\u3044\u3046\u30d1\u30bf\u30fc\u30f3\u3092\u305f\u3069\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u8996\u529b\u306e\u4f4e\u4e0b\u3084\u3001\u7cbe\u795e\u7684\u306a\u5909\u5316\u306a\u3069\u304c\u73fe\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u975e\u5e38\u306b\u7a00\u306a\u75c5\u6c17\u3067\u3042\u308b\u305f\u3081\u3001\u6700\u521d\u306f\u5358\u306a\u308b\u96e3\u8074\u3060\u3068\u601d\u308f\u308c\u3066\u3044\u305f\u308a\u3001\u539f\u56e0\u4e0d\u660e\u306e\u904b\u52d5\u969c\u5bb3\u3060\u3068\u601d\u308f\u308c\u3066\u3044\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u907a\u4f1d\u5b50\u691c\u67fb\u6280\u8853\u306e\u9032\u6b69\u306b\u3088\u3063\u3066\u3001\u3053\u308c\u3089\u304c\u4e00\u3064\u306e\u539f\u56e0\u306b\u3088\u308b\u3082\u306e\u3067\u3042\u308b\u3053\u3068\u304c\u5224\u660e\u3057\u3001\u8a3a\u65ad\u306b\u81f3\u308b\u30b1\u30fc\u30b9\u304c\u5897\u3048\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%B8%BB%E3%81%AA%E7%97%87%E7%8A%B6\"><\/span><strong>\u4e3b\u306a\u75c7\u72b6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u3053\u306e\u75c5\u6c17\u306e\u75c7\u72b6\u306f\u3001\u5e74\u9f62\u3068\u3068\u3082\u306b\u6bb5\u968e\u7684\u306b\u73fe\u308c\u3066\u304f\u308b\u3053\u3068\u304c\u5927\u304d\u306a\u7279\u5fb4\u3067\u3059\u3002<\/strong>\u3059\u3079\u3066\u306e\u75c7\u72b6\u304c\u751f\u307e\u308c\u305f\u6642\u304b\u3089\u3042\u308b\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u305d\u308c\u305e\u308c\u306e\u6642\u671f\u306b\u3069\u306e\u3088\u3046\u306a\u5909\u5316\u304c\u8d77\u304d\u308b\u306e\u304b\u3092\u3001\u307e\u305a\u4e00\u89a7\u3067\u78ba\u8a8d\u3057\u3066\u304b\u3089\u8a73\u3057\u304f\u898b\u3066\u3044\u304d\u307e\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<figure class=\"wp-block-table\"><table><thead><tr><th>\u6642\u671f\u306e\u76ee\u5b89<\/th><th>\u73fe\u308c\u3084\u3059\u3044\u5909\u5316<\/th><th>\u95a2\u308f\u308b\u4e3b\u306a\u75c7\u72b6<\/th><\/tr><\/thead><tbody><tr><td>\u4e73\u5e7c\u5150\u671f\u301c\u5c31\u5b66\u524d<\/td><td>\u8033\u306e\u805e\u3053\u3048\u306b\u304f\u3055\u306b\u6c17\u3065\u304f<\/td><td>\u9032\u884c\u6027\u611f\u97f3\u96e3\u8074<\/td><\/tr><tr><td>10\u4ee3\u301c20\u4ee3<\/td><td>\u624b\u8db3\u306e\u3053\u308f\u3070\u308a\u3084\u4f53\u306e\u306d\u3058\u308c<\/td><td>\u30b8\u30b9\u30c8\u30cb\u30a2\uff08\u904b\u52d5\u75c7\u72b6\uff09<\/td><\/tr><tr><td>\u6210\u4eba\u671f<\/td><td>\u8996\u529b\u4f4e\u4e0b\u30fb\u8996\u91ce\u304c\u72ed\u304f\u306a\u308b<\/td><td>\u8996\u795e\u7d4c\u840e\u7e2e<\/td><\/tr><tr><td>\u9577\u671f\u7d4c\u904e\uff08\u500b\u4eba\u5dee\u5927\uff09<\/td><td>\u6c17\u5206\u306e\u843d\u3061\u8fbc\u307f\u3084\u5224\u65ad\u529b\u306e\u5909\u5316<\/td><td>\u7cbe\u795e\u30fb\u8a8d\u77e5\u6a5f\u80fd\u306e\u5909\u5316<\/td><\/tr><\/tbody><\/table><figcaption class=\"wp-element-caption\">DDS1\u3067\u75c7\u72b6\u304c\u73fe\u308c\u3084\u3059\u3044\u6642\u671f\u306e\u76ee\u5b89\uff08\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059\uff09<\/figcaption><\/figure>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E8%81%B4%E8%A6%9A%E3%81%AE%E7%97%87%E7%8A%B6%EF%BC%88%E9%80%B2%E8%A1%8C%E6%80%A7%E6%84%9F%E9%9F%B3%E9%9B%A3%E8%81%B4%EF%BC%89\"><\/span><strong>1. \u8074\u899a\u306e\u75c7\u72b6\uff08\u9032\u884c\u6027\u611f\u97f3\u96e3\u8074\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6700\u3082\u65e9\u304f\u73fe\u308c\u308b\u3001\u3053\u306e\u75c5\u6c17\u306e\u6700\u521d\u306e\u30b5\u30a4\u30f3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u591a\u304f\u306e\u60a3\u8005\u3055\u3093\u3067\u306f\u3001\u8a00\u8449\u3092\u899a\u3048\u59cb\u3081\u308b\u524d\u306e\u4e73\u5e7c\u5150\u671f\u3001\u3042\u308b\u3044\u306f\u5c0f\u5b66\u6821\u306b\u4e0a\u304c\u308b\u524d\u304f\u3089\u3044\u306e\u5e7c\u5150\u671f\u306b\u3001\u8033\u306e\u805e\u3053\u3048\u304c\u60aa\u304f\u306a\u3063\u3066\u3044\u308b\u3053\u3068\u306b\u6c17\u3065\u304b\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6700\u521d\u306f\u9ad8\u3044\u97f3\u304c\u805e\u3053\u3048\u306b\u304f\u304f\u306a\u308a\u3001\u5f90\u3005\u306b\u4f4e\u3044\u97f3\u3082\u805e\u3053\u3048\u306b\u304f\u304f\u306a\u3063\u3066\u3044\u304d\u307e\u3059\u3002\u6700\u7d42\u7684\u306b\u306f\u9ad8\u5ea6\u306e\u96e3\u8074\u306b\u306a\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u88dc\u8074\u5668\u3084\u4eba\u5de5\u5185\u8033\u3068\u3044\u3063\u305f\u6a5f\u5668\u3092\u4f7f\u7528\u3059\u308b\u3053\u3068\u3067\u3001\u97f3\u3092\u805e\u304d\u53d6\u308b\u529b\u3092\u88dc\u3046\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059\u3002\u7279\u306b\u3053\u306e\u75c5\u6c17\u306e\u96e3\u8074\u306b\u5bfe\u3057\u3066\u306f\u3001<strong>\u4eba\u5de5\u5185\u8033\u304c\u975e\u5e38\u306b\u826f\u3044\u52b9\u679c\u3092\u767a\u63ee\u3059\u308b<\/strong>\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E9%81%8B%E5%8B%95%E3%81%AE%E7%97%87%E7%8A%B6%EF%BC%88%E3%82%B8%E3%82%B9%E3%83%88%E3%83%8B%E3%82%A2%EF%BC%89\"><\/span><strong>2. \u904b\u52d5\u306e\u75c7\u72b6\uff08\u30b8\u30b9\u30c8\u30cb\u30a2\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u96e3\u8074\u306e\u767a\u75c7\u304b\u3089\u6570\u5e74\u3001\u6642\u306b\u306f\u6570\u5341\u5e74\u7d4c\u3063\u3066\u304b\u3089\u73fe\u308c\u308b\u75c7\u72b6\u3067\u3059\u3002\u591a\u304f\u306f10\u4ee3\u304b\u308920\u4ee3\u306b\u304b\u3051\u3066\u767a\u75c7\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u30b8\u30b9\u30c8\u30cb\u30a2\u3068\u306f\u3001\u8133\u304b\u3089\u306e\u6307\u4ee4\u306e\u8abf\u7bc0\u304c\u3046\u307e\u304f\u3044\u304b\u305a\u3001\u81ea\u5206\u306e\u610f\u601d\u3068\u306f\u7121\u95a2\u4fc2\u306b\u7b4b\u8089\u306b\u529b\u304c\u5165\u3063\u3066\u3057\u307e\u3063\u305f\u308a\u3001\u4f53\u304c\u306d\u3058\u308c\u305f\u308a\u3001\u9707\u3048\u305f\u308a\u3059\u308b\u75c7\u72b6\u306e\u3053\u3068\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u6700\u521d\u306f\u3001\u5b57\u3092\u66f8\u304f\u3068\u304d\u306b\u624b\u304c\u3053\u308f\u3070\u308b\u3001\u6b69\u304f\u3068\u304d\u306b\u8db3\u304c\u3064\u3063\u3071\u308b\u3001\u9996\u304c\u52dd\u624b\u306b\u50be\u304f\u3068\u3044\u3063\u305f\u75c7\u72b6\u304b\u3089\u59cb\u307e\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u9032\u884c\u3059\u308b\u3068\u3001\u5168\u8eab\u306e\u7b4b\u8089\u306b\u5f71\u97ff\u304c\u53ca\u3073\u3001\u6b69\u884c\u304c\u96e3\u3057\u304f\u306a\u3063\u305f\u308a\u3001\u98f2\u307f\u8fbc\u307f\u304c\u3057\u306b\u304f\u304f\u306a\u3063\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u307e\u305f\u3001\u904b\u52d5\u5931\u8abf\u3068\u3044\u3063\u3066\u3001\u30d0\u30e9\u30f3\u30b9\u304c\u53d6\u308a\u306b\u304f\u304f\u3075\u3089\u3064\u3044\u3066\u3057\u307e\u3046\u75c7\u72b6\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E8%A6%96%E8%A6%9A%E3%81%AE%E7%97%87%E7%8A%B6\"><\/span><strong>3. \u8996\u899a\u306e\u75c7\u72b6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6210\u4eba\u3057\u3066\u304b\u3089\u3001\u8996\u529b\u304c\u4f4e\u4e0b\u3057\u305f\u308a\u3001\u8996\u91ce\uff08\u898b\u3048\u308b\u7bc4\u56f2\uff09\u304c\u72ed\u304f\u306a\u3063\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u306f\u8996\u795e\u7d4c\u306e\u840e\u7e2e\u306b\u3088\u308b\u3082\u306e\u3067\u3001\u773c\u93e1\u3067\u77ef\u6b63\u3067\u304d\u308b\u8fd1\u8996\u3084\u4e71\u8996\u3068\u306f\u7570\u306a\u308b\u3082\u306e\u3067\u3059\u3002\u8272\u304c\u898b\u5206\u3051\u306b\u304f\u304f\u306a\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E7%B2%BE%E7%A5%9E%E3%83%BB%E7%A5%9E%E7%B5%8C%E9%9D%A2%E3%81%AE%E7%97%87%E7%8A%B6\"><\/span><strong>4. \u7cbe\u795e\u30fb\u795e\u7d4c\u9762\u306e\u75c7\u72b6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u500b\u4eba\u5dee\u304c\u5927\u304d\u3044\u90e8\u5206\u3067\u3059\u304c\u3001\u6027\u683c\u306e\u5909\u5316\u3084\u3001\u6c17\u5206\u306e\u843d\u3061\u8fbc\u307f\u3001\u4e0d\u5b89\u611f\u3068\u3044\u3063\u305f\u7cbe\u795e\u7684\u306a\u75c7\u72b6\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u307e\u305f\u3001\u9577\u3044\u7d4c\u904e\u306e\u4e2d\u3067\u3001\u8a18\u61b6\u529b\u3084\u5224\u65ad\u529b\u3068\u3044\u3063\u305f\u8a8d\u77e5\u6a5f\u80fd\u306b\u5909\u5316\u304c\u73fe\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2026\/01\/22364560_s.webp\" alt=\"\u8033\u306e\u805e\u3053\u3048\u3068\u904b\u52d5\u767a\u9054\u3092\u898b\u5b88\u3089\u308c\u308b\u8d64\u3061\u3083\u3093\" class=\"wp-image-121716\"\/><\/figure><\/div>\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%8E%9F%E5%9B%A0\"><\/span><strong>\u539f\u56e0<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>DDS1\u306e\u539f\u56e0\u306f\u3001\u7d30\u80de\u306e\u30a8\u30cd\u30eb\u30ae\u30fc\u5de5\u5834\u3067\u3042\u308b\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u306e\u50cd\u304d\u306b\u95a2\u4fc2\u3057\u3066\u3044\u307e\u3059\u3002<\/strong>\u306a\u305c\u3001\u8033\u304c\u805e\u3053\u3048\u306a\u304f\u306a\u3063\u305f\u308a\u3001\u7b4b\u8089\u304c\u52dd\u624b\u306b\u52d5\u3044\u305f\u308a\u3059\u308b\u306e\u3067\u3057\u3087\u3046\u304b\u3002\u9806\u3092\u8ffd\u3063\u3066\u898b\u3066\u3044\u304d\u307e\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"TIMM8A%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AE%E5%A4%89%E7%95%B0\"><\/span><strong>TIMM8A\u907a\u4f1d\u5b50\u306e\u5909\u7570<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u30b8\u30b9\u30c8\u30cb\u30a2\u30fb\u96e3\u8074\u75c7\u5019\u7fa41\u578b\u306e\u539f\u56e0\u306f\u3001X\u67d3\u8272\u4f53\u306b\u3042\u308bTIMM8A\uff08\u30c6\u30a3\u30e0\u30fb\u30a8\u30a4\u30c8\u30fb\u30a8\u30fc\uff09\u3068\u3044\u3046\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u907a\u4f1d\u5b50\u306f\u3001\u30c7\u30d5\u30cd\u30b9\u30fb\u30b8\u30b9\u30c8\u30cb\u30a2\u30fb\u30da\u30d7\u30c1\u30c91\uff08DDP1\uff09\u3068\u3044\u3046\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u4f5c\u308b\u305f\u3081\u306e\u8a2d\u8a08\u56f3\u306b\u306a\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%83%9F%E3%83%88%E3%82%B3%E3%83%B3%E3%83%89%E3%83%AA%E3%82%A2%E3%81%AE%E6%A9%9F%E8%83%BD%E4%B8%8D%E5%85%A8\"><\/span><strong>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u306e\u6a5f\u80fd\u4e0d\u5168<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>DDP1\u30bf\u30f3\u30d1\u30af\u8cea\u306f\u3001\u7d30\u80de\u306e\u4e2d\u306b\u3042\u308b\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u3068\u3044\u3046\u5c0f\u3055\u306a\u5668\u5b98\u306e\u4e2d\u3067\u50cd\u3044\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u306f\u3001\u9178\u7d20\u3092\u4f7f\u3063\u3066\u79c1\u305f\u3061\u304c\u751f\u304d\u3066\u3044\u304f\u305f\u3081\u306b\u5fc5\u8981\u306a\u30a8\u30cd\u30eb\u30ae\u30fc\u3092\u4f5c\u308a\u51fa\u3059\u3001\u3044\u308f\u3070\u7d30\u80de\u5185\u306e\u767a\u96fb\u6240\u306e\u3088\u3046\u306a\u5834\u6240\u3067\u3059\u3002<\/p>\n\n\n\n<p>DDP1\u306f\u3001\u3053\u306e\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u306e\u4e2d\u306b\u3001\u7279\u5b9a\u306e\u7269\u8cea\u3092\u904b\u3073\u8fbc\u3080\u8f38\u9001\u30c8\u30e9\u30c3\u30af\u306e\u3088\u3046\u306a\u5f79\u5272\u3092\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>TIMM8A\u907a\u4f1d\u5b50\u306b\u5909\u7570\u304c\u3042\u308b\u3068\u3001\u3053\u306e\u8f38\u9001\u30c8\u30e9\u30c3\u30af\u304c\u3046\u307e\u304f\u4f5c\u3089\u308c\u306a\u304b\u3063\u305f\u308a\u3001\u58ca\u308c\u3084\u3059\u304f\u306a\u3063\u305f\u308a\u3057\u307e\u3059\u3002\u3059\u308b\u3068\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u306e\u4e2d\u306b\u5fc5\u8981\u306a\u7269\u8cea\u304c\u5c4a\u304b\u305a\u3001<strong>\u30a8\u30cd\u30eb\u30ae\u30fc\u3092\u3046\u307e\u304f\u4f5c\u308a\u51fa\u305b\u306a\u304f\u306a\u308b<\/strong>\u306e\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u4eba\u9593\u306e\u4f53\u306e\u4e2d\u3067\u3082\u3001\u7279\u306b\u8133\u3084\u795e\u7d4c\u306e\u7d30\u80de\u306f\u5927\u91cf\u306e\u30a8\u30cd\u30eb\u30ae\u30fc\u3092\u5fc5\u8981\u3068\u3057\u307e\u3059\u3002\u305d\u306e\u305f\u3081\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u306e\u6a5f\u80fd\u304c\u4f4e\u4e0b\u3059\u308b\u3068\u3001\u30a8\u30cd\u30eb\u30ae\u30fc\u4e0d\u8db3\u306b\u306a\u3063\u305f\u795e\u7d4c\u7d30\u80de\u304c\u5f90\u3005\u306b\u5f31\u3063\u3066\u3057\u307e\u3044\u3001\u8033\u306e\u795e\u7d4c\u3084\u904b\u52d5\u3092\u53f8\u308b\u795e\u7d4c\u306b\u75c7\u72b6\u304c\u73fe\u308c\u308b\u306e\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%BA%E4%BC%9D%E3%81%AE%E3%81%97%E3%81%8F%E3%81%BF%EF%BC%88X%E9%80%A3%E9%8E%96%E6%80%A7%E6%BD%9C%E6%80%A7%E9%81%BA%E4%BC%9D%EF%BC%89\"><\/span><strong>\u907a\u4f1d\u306e\u3057\u304f\u307f\uff08X\u9023\u9396\u6027\u6f5c\u6027\u907a\u4f1d\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306f\u3001\u6027\u67d3\u8272\u4f53\u306e\u4e00\u3064\u3067\u3042\u308bX\u67d3\u8272\u4f53\u306b\u4e57\u3063\u3066\u3044\u308b\u907a\u4f1d\u5b50\u306e\u75c5\u6c17\u3067\u3059\u3002\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u73fe\u5834\u3067\u306f\u3001\u3053\u306e\u300c\u6f5c\u6027\u907a\u4f1d\u300d\u3068\u3044\u3046\u8a00\u8449\u81ea\u4f53\u306b\u6238\u60d1\u308f\u308c\u308b\u3054\u5bb6\u65cf\u3082\u5c11\u306a\u304f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u304b\u3064\u3066\u306f\u300c\u52a3\u6027\u907a\u4f1d\u300d\u3068\u547c\u3070\u308c\u3066\u3044\u307e\u3057\u305f\u304c\u3001\u512a\u52a3\u3067\u306f\u306a\u304f\u73fe\u308c\u65b9\u306e\u9055\u3044\u3067\u3042\u308b\u3068\u3044\u3046\u8aa4\u89e3\u3092\u907f\u3051\u308b\u305f\u3081\u3001\u73fe\u5728\u306f\u300c\u9855\u6027\u907a\u4f1d\u300d\u300c\u6f5c\u6027\u907a\u4f1d\u300d\u3068\u3044\u3046\u7528\u8a9e\u306b\u7f6e\u304d\u63db\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<a href=\"https:\/\/x.com\/mediquartet\" target=\"_blank\" rel=\"noopener\">@mediquartet<\/a>\u6c0f\u3082\u300c\u610f\u8b58\u3057\u3066\u306a\u3044\u3068\u9855\u6027\/\u6f5c\u6027\u907a\u4f1d\u306e\u3053\u3068\u512a\u6027\/\u52a3\u6027\u907a\u4f1d\u3063\u3066\u547c\u3093\u3058\u3083\u3046\u300d\u3068X\u306b\u6295\u7a3f\u3057\u3066\u304a\u308a\u3001\u5c02\u9580\u5bb6\u3067\u306a\u304f\u3066\u3082\u6df7\u540c\u3057\u3084\u3059\u3044\u7528\u8a9e\u3067\u3042\u308b\u3053\u3068\u304c\u3046\u304b\u304c\u3048\u307e\u3059\u3002\u540d\u79f0\u306f\u5909\u308f\u3063\u3066\u3082\u3001\u907a\u4f1d\u306e\u4ed5\u7d44\u307f\u81ea\u4f53\u306f\u5909\u308f\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u7537\u6027\u306fX\u67d3\u8272\u4f53\u30921\u672c\u3057\u304b\u6301\u3063\u3066\u3044\u307e\u305b\u3093\uff08XY\uff09\u3002\u305d\u306e\u305f\u3081\u3001\u305d\u306e1\u672c\u306eX\u67d3\u8272\u4f53\u306b\u3042\u308bTIMM8A\u907a\u4f1d\u5b50\u306b\u5909\u7570\u304c\u3042\u308b\u3068\u3001\u5fc5\u305a\u767a\u75c7\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5973\u6027\u306fX\u67d3\u8272\u4f53\u30922\u672c\u6301\u3063\u3066\u3044\u307e\u3059\uff08XX\uff09\u3002\u7247\u65b9\u306e\u907a\u4f1d\u5b50\u306b\u5909\u7570\u304c\u3042\u3063\u3066\u3082\u3001\u3082\u3046\u7247\u65b9\u306e\u5065\u5eb7\u306a\u907a\u4f1d\u5b50\u304c\u30ab\u30d0\u30fc\u3057\u3066\u304f\u308c\u308b\u305f\u3081\u3001\u901a\u5e38\u306f\u767a\u75c7\u3057\u307e\u305b\u3093\uff08\u4fdd\u56e0\u8005\u3068\u306a\u308a\u307e\u3059\uff09\u3002<\/p>\n\n\n\n<p>\u6bcd\u89aa\u304c\u4fdd\u56e0\u8005\u306e\u5834\u5408\u3001\u7537\u306e\u5b50\u304c\u751f\u307e\u308c\u308b\u3068<strong>50\u30d1\u30fc\u30bb\u30f3\u30c8\u306e\u78ba\u7387<\/strong>\u3067\u3053\u306e\u75c5\u6c17\u3092\u53d7\u3051\u7d99\u304e\u307e\u3059\u3002\u5973\u306e\u5b50\u304c\u751f\u307e\u308c\u305f\u5834\u5408\u306f50\u30d1\u30fc\u30bb\u30f3\u30c8\u306e\u78ba\u7387\u3067\u4fdd\u56e0\u8005\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u305f\u3060\u3057\u3001\u5bb6\u7cfb\u5185\u306b\u8ab0\u3082\u3053\u306e\u75c5\u6c17\u306e\u65b9\u304c\u3044\u306a\u304f\u3066\u3082\u3001\u304a\u5b50\u3055\u3093\u306e\u4ee3\u3067\u521d\u3081\u3066\u907a\u4f1d\u5b50\u306e\u5909\u5316\u304c\u8d77\u304d\u308b\u7a81\u7136\u5909\u7570\u306e\u30b1\u30fc\u30b9\u3082\u3042\u308a\u307e\u3059\u3002\u907a\u4f1d\u5b50\u306e\u5909\u5316\u306f\u8ab0\u306b\u3067\u3082\u8d77\u3053\u308a\u3046\u308b\u3053\u3068\u3067\u3042\u308a\u3001\u3054\u4e21\u89aa\u306e\u305b\u3044\u3067\u8d77\u304d\u305f\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%A8%BA%E6%96%AD%E3%81%A8%E6%A4%9C%E6%9F%BB\"><\/span><strong>\u8a3a\u65ad\u3068\u691c\u67fb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u8a3a\u65ad\u306f\u3001\u75c7\u72b6\u306e\u7d4c\u904e\u306e\u78ba\u8a8d\u3001\u8074\u529b\u3084\u8133\u306e\u691c\u67fb\u3001\u305d\u3057\u3066\u907a\u4f1d\u5b50\u691c\u67fb\u3092\u7d44\u307f\u5408\u308f\u305b\u3066\u884c\u308f\u308c\u307e\u3059\u3002<\/strong>\u305f\u3060\u3001\u3053\u306e\u78ba\u5b9a\u8a3a\u65ad\u306b\u305f\u3069\u308a\u7740\u304f\u307e\u3067\u306e\u9053\u306e\u308a\u306f\u3001\u6c7a\u3057\u3066\u5e73\u5766\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u51fa\u751f\u524d\u306e\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u73fe\u5834\u3067\u3082\u3001\u5bb6\u7cfb\u5185\u306b\u5e0c\u5c11\u306a\u907a\u4f1d\u6027\u75be\u60a3\u304c\u3042\u308b\u65b9\u304b\u3089\u3001\u8a3a\u65ad\u304c\u78ba\u5b9a\u3059\u308b\u307e\u3067\u306e\u7d4c\u904e\u3084\u3001\u6b21\u306e\u598a\u5a20\u3078\u306e\u4e0d\u5b89\u306b\u3064\u3044\u3066\u76f8\u8ac7\u3092\u53d7\u3051\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u8033\u306e\u805e\u3053\u3048\u306e\u7570\u5e38\u304b\u3089\u904b\u52d5\u75c7\u72b6\u304c\u52a0\u308f\u308b\u307e\u3067\u6570\u5e74\u304b\u304b\u308b\u3053\u3068\u3082\u591a\u304f\u3001\u8907\u6570\u306e\u8a3a\u7642\u79d1\u3092\u7d4c\u3066\u3088\u3046\u3084\u304f\u75c5\u540d\u306b\u305f\u3069\u308a\u7740\u304f\u3054\u5bb6\u65cf\u306f\u5c11\u306a\u304f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u53c2\u8b70\u9662\u8b70\u54e1\u306e\u5869\u5d0e\u606d\u4e45\u6c0f\uff08<a href=\"https:\/\/x.com\/yasu_shio\" target=\"_blank\" rel=\"noopener\">@yasu_shio<\/a>\uff09\u3082\u3001\u5168\u56fd\u3067\u308f\u305a\u304b35\u4eba\u3057\u304b\u78ba\u8a8d\u3055\u308c\u3066\u3044\u306a\u3044\u8d85\u5e0c\u5c11\u75be\u60a3\u306e\u60a3\u8005\u5bb6\u65cf\u4f1a\u4ee3\u8868\u304b\u3089\u8a71\u3092\u805e\u3044\u305f\u7d4c\u9a13\u3068\u3057\u3066\u3001\u300c2\u5e74\u534a\u306e\u82e6\u60a9\u306e\u672b\u3001\u5168\u30b2\u30ce\u30e0\u89e3\u6790\uff08IRUD\uff1a\u672a\u8a3a\u65ad\u75be\u60a3\u30a4\u30cb\u30b7\u30a2\u30c6\u30a3\u30d6\uff09\u306b\u3088\u308b\u8a3a\u65ad\u307e\u3067\u306e\u4e0d\u5b89\u3068\u3054\u82e6\u52b4\u300d\u304c\u3042\u3063\u305f\u3068X\u3067\u767a\u4fe1\u3057\u3066\u3044\u307e\u3059\u3002DDS1\u306e\u3088\u3046\u306b\u60a3\u8005\u6570\u306e\u5c11\u306a\u3044\u75be\u60a3\u3067\u3082\u3001\u540c\u3058\u3088\u3046\u306b\u9577\u3044\u8a3a\u65ad\u306e\u9053\u306e\u308a\u3092\u305f\u3069\u308b\u3054\u5bb6\u65cf\u306f\u73cd\u3057\u304f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<figure class=\"wp-block-table\"><table><thead><tr><th>\u691c\u67fb<\/th><th>\u4e3b\u306a\u76ee\u7684<\/th><\/tr><\/thead><tbody><tr><td>\u554f\u8a3a\u30fb\u81e8\u5e8a\u75c7\u72b6\u306e\u78ba\u8a8d<\/td><td>\u96e3\u8074\u306e\u767a\u75c7\u6642\u671f\u3068\u5bb6\u65cf\u6b74\uff08\u7279\u306b\u6bcd\u65b9\u306e\u7537\u6027\u89aa\u65cf\uff09\u306e\u805e\u304d\u53d6\u308a<\/td><\/tr><tr><td>\u8074\u899a\u691c\u67fb\uff08\u30aa\u30fc\u30b8\u30aa\u30e1\u30c8\u30ea\u30fc\u30fbABR\uff09<\/td><td>\u96e3\u8074\u306e\u7a0b\u5ea6\u3068\u3001\u97f3\u304c\u8133\u306b\u4f1d\u308f\u308b\u7d4c\u8def\u306e\u969c\u5bb3\u306e\u6709\u7121\u3092\u78ba\u8a8d<\/td><\/tr><tr><td>\u753b\u50cf\u691c\u67fb\uff08\u982d\u90e8MRI\uff09<\/td><td>\u57fa\u5e95\u6838\u306e\u5909\u5316\u3084\u8996\u795e\u7d4c\u840e\u7e2e\u306e\u6709\u7121\u3092\u78ba\u8a8d<\/td><\/tr><tr><td>\u907a\u4f1d\u5b66\u7684\u691c\u67fb<\/td><td>TIMM8A\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3092\u8abf\u3079\u3001\u78ba\u5b9a\u8a3a\u65ad\u306b\u3064\u306a\u3052\u308b<\/td><\/tr><\/tbody><\/table><figcaption class=\"wp-element-caption\">DDS1\u306e\u8a3a\u65ad\u3067\u884c\u308f\u308c\u308b\u4e3b\u306a\u691c\u67fb\u3068\u76ee\u7684<\/figcaption><\/figure>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E5%95%8F%E8%A8%BA%E3%81%A8%E8%87%A8%E5%BA%8A%E7%97%87%E7%8A%B6%E3%81%AE%E7%A2%BA%E8%AA%8D\"><\/span><strong>1. \u554f\u8a3a\u3068\u81e8\u5e8a\u75c7\u72b6\u306e\u78ba\u8a8d<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u533b\u5e2b\u306f\u3001\u96e3\u8074\u304c\u3044\u3064\u9803\u304b\u3089\u59cb\u307e\u3063\u305f\u304b\u3001\u5bb6\u65cf\u306b\u540c\u3058\u3088\u3046\u306a\u75c7\u72b6\u306e\u4eba\u304c\u3044\u306a\u3044\u304b\uff08\u7279\u306b\u6bcd\u65b9\u306e\u7537\u6027\u89aa\u65cf\uff09\u3092\u8a73\u3057\u304f\u805e\u304d\u53d6\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u5e7c\u5c11\u671f\u304b\u3089\u306e\u96e3\u8074\u300d\u304c\u3042\u308a\u3001\u305d\u306e\u5f8c\u306b\u300c\u30b8\u30b9\u30c8\u30cb\u30a2\u306a\u3069\u306e\u904b\u52d5\u969c\u5bb3\u300d\u304c\u73fe\u308c\u305f\u7537\u6027\u306e\u5834\u5408\u3001\u3053\u306e\u75c5\u6c17\u3092\u5f37\u304f\u7591\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E8%81%B4%E8%A6%9A%E6%A4%9C%E6%9F%BB\"><\/span><strong>2. \u8074\u899a\u691c\u67fb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u30aa\u30fc\u30b8\u30aa\u30e1\u30c8\u30ea\u30fc\uff08\u8074\u529b\u691c\u67fb\uff09\u3092\u884c\u3044\u3001\u3069\u306e\u304f\u3089\u3044\u306e\u97f3\u306e\u5927\u304d\u3055\u3001\u9ad8\u3055\u304c\u805e\u3053\u3048\u3066\u3044\u308b\u304b\u3092\u8abf\u3079\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u8074\u6027\u8133\u5e79\u53cd\u5fdc\uff08ABR\uff09\u3068\u3044\u3046\u691c\u67fb\u3092\u884c\u3044\u3001\u97f3\u304c\u96fb\u6c17\u4fe1\u53f7\u3068\u3057\u3066\u8133\u306b\u6b63\u3057\u304f\u4f1d\u308f\u3063\u3066\u3044\u308b\u304b\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002\u3053\u306e\u75c5\u6c17\u3067\u306f\u3001\u5185\u8033\u304b\u3089\u8133\u3078\u306e\u4f1d\u9054\u7d4c\u8def\u306b\u969c\u5bb3\u304c\u3042\u308b\u611f\u97f3\u96e3\u8074\u306e\u30d1\u30bf\u30fc\u30f3\u3092\u793a\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E7%94%BB%E5%83%8F%E6%A4%9C%E6%9F%BB%EF%BC%88MRI%EF%BC%89\"><\/span><strong>3. \u753b\u50cf\u691c\u67fb\uff08MRI\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u982d\u90e8\u306eMRI\u691c\u67fb\u3092\u884c\u3044\u307e\u3059\u3002\u8133\u306e\u5f62\u3084\u840e\u7e2e\u306e\u6709\u7121\u306a\u3069\u3092\u8abf\u3079\u307e\u3059\u3002\u3053\u306e\u75c5\u6c17\u3067\u306f\u3001\u8133\u306e\u6df1\u3044\u90e8\u5206\u306b\u3042\u308b\u57fa\u5e95\u6838\uff08\u304d\u3066\u3044\u304b\u304f\uff09\u3068\u3044\u3046\u5834\u6240\u306b\u5909\u5316\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u307e\u305f\u3001\u8996\u795e\u7d4c\u306e\u840e\u7e2e\u304c\u306a\u3044\u304b\u3082\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E9%81%BA%E4%BC%9D%E5%AD%A6%E7%9A%84%E6%A4%9C%E6%9F%BB\"><\/span><strong>4. \u907a\u4f1d\u5b66\u7684\u691c\u67fb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u78ba\u5b9a\u8a3a\u65ad\u306e\u305f\u3081\u306b<strong>\u6700\u3082\u91cd\u8981\u306a\u691c\u67fb<\/strong>\u3067\u3059\u3002\u8840\u6db2\u3092\u63a1\u53d6\u3057\u3066DNA\u3092\u53d6\u308a\u51fa\u3057\u3001TIMM8A\u907a\u4f1d\u5b50\u306b\u5909\u7570\u304c\u3042\u308b\u304b\u3069\u3046\u304b\u3092\u8abf\u3079\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u691c\u67fb\u3067\u5909\u7570\u304c\u898b\u3064\u304b\u308c\u3070\u3001\u8a3a\u65ad\u306f\u78ba\u5b9a\u3057\u307e\u3059\u3002\u8a3a\u65ad\u304c\u78ba\u5b9a\u3059\u308b\u3053\u3068\u3067\u3001\u4eca\u5f8c\u306e\u898b\u901a\u3057\u3092\u7acb\u3066\u305f\u308a\u3001\u9069\u5207\u306a\u6cbb\u7642\u6cd5\u3092\u9078\u629e\u3057\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u53ef\u80fd\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%B2%BB%E7%99%82%E3%81%A8%E7%AE%A1%E7%90%86\"><\/span><strong>\u6cbb\u7642\u3068\u7ba1\u7406<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u73fe\u5728\u306e\u533b\u5b66\u3067\u306f\u3001\u907a\u4f1d\u5b50\u306e\u5909\u5316\u305d\u306e\u3082\u306e\u3092\u4fee\u5fa9\u3057\u3066\u75c5\u6c17\u3092\u6839\u672c\u304b\u3089\u6cbb\u3059\u6cbb\u7642\u6cd5\u306f\u307e\u3060\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002<\/strong>\u7814\u7a76\u6bb5\u968e\u306e\u907a\u4f1d\u5b50\u6cbb\u7642\u306f\u3042\u308b\u3082\u306e\u306e\u3001\u5b9f\u7528\u5316\u306b\u306f\u81f3\u3063\u3066\u3044\u306a\u3044\u306e\u304c\u73fe\u72b6\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u305d\u308c\u305e\u308c\u306e\u75c7\u72b6\u306b\u5bfe\u3057\u3066\u9069\u5207\u306a\u6cbb\u7642\uff08\u5bfe\u75c7\u7642\u6cd5\uff09\u3092\u884c\u3046\u3053\u3068\u3067\u3001\u6a5f\u80fd\u3092\u88dc\u3044\u3001\u751f\u6d3b\u306e\u8cea\uff08QOL\uff09\u3092\u9ad8\u304f\u4fdd\u3064\u3053\u3068\u306f\u5341\u5206\u306b\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E8%81%B4%E8%A6%9A%E3%81%AB%E5%AF%BE%E3%81%99%E3%82%8B%E6%B2%BB%E7%99%82\"><\/span><strong>1. \u8074\u899a\u306b\u5bfe\u3059\u308b\u6cbb\u7642<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u96e3\u8074\u306b\u5bfe\u3057\u3066\u306f\u3001\u88dc\u8074\u5668\u3084\u4eba\u5de5\u5185\u8033\u3092\u4f7f\u7528\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7279\u306b\u3053\u306e\u75c5\u6c17\u3067\u306f\u3001\u97f3\u3092\u611f\u3058\u53d6\u308b\u5185\u8033\u306e\u7d30\u80de\u3084\u795e\u7d4c\u304c\u5f31\u3063\u3066\u3044\u308b\u3082\u306e\u306e\u3001<strong>\u4eba\u5de5\u5185\u8033\u306b\u3088\u308b\u96fb\u6c17\u523a\u6fc0\u306b\u306f\u3088\u304f\u53cd\u5fdc\u3059\u308b<\/strong>\u3053\u3068\u304c\u5206\u304b\u3063\u3066\u3044\u307e\u3059\u3002\u305d\u306e\u305f\u3081\u3001\u88dc\u8074\u5668\u3067\u306e\u52b9\u679c\u304c\u4e0d\u5341\u5206\u306a\u5834\u5408\u306f\u3001\u4eba\u5de5\u5185\u8033\u57cb\u3081\u8fbc\u307f\u8853\u304c\u7a4d\u6975\u7684\u306b\u691c\u8a0e\u3055\u308c\u307e\u3059\u3002\u4eba\u5de5\u5185\u8033\u3092\u4f7f\u3046\u3053\u3068\u3067\u3001\u8a00\u8449\u306e\u805e\u304d\u53d6\u308a\u304c\u6539\u5584\u3057\u3001\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u304c\u30b9\u30e0\u30fc\u30ba\u306b\u306a\u308b\u3053\u3068\u304c\u671f\u5f85\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E3%82%B8%E3%82%B9%E3%83%88%E3%83%8B%E3%82%A2%E3%81%AB%E5%AF%BE%E3%81%99%E3%82%8B%E6%B2%BB%E7%99%82\"><\/span><strong>2. \u30b8\u30b9\u30c8\u30cb\u30a2\u306b\u5bfe\u3059\u308b\u6cbb\u7642<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u7b4b\u8089\u306e\u7dca\u5f35\u3092\u548c\u3089\u3052\u3001\u52d5\u304d\u3092\u30b9\u30e0\u30fc\u30ba\u306b\u3059\u308b\u305f\u3081\u306e\u6cbb\u7642\u304c\u884c\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5185\u670d\u85ac\u306b\u3088\u308b\u6cbb\u7642\u3002<\/p>\n\n\n\n<p>\u7b4b\u8089\u306e\u7dca\u5f35\u3092\u307b\u3050\u3059\u85ac\uff08\u6297\u30b3\u30ea\u30f3\u85ac\u3001\u7b4b\u5f1b\u7de9\u85ac\u306a\u3069\uff09\u3084\u3001\u30c9\u30fc\u30d1\u30df\u30f3\u88fd\u5264\u306a\u3069\u304c\u8a66\u3055\u308c\u307e\u3059\u3002\u52b9\u679c\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308b\u305f\u3081\u3001\u533b\u5e2b\u3068\u76f8\u8ac7\u3057\u306a\u304c\u3089\u305d\u306e\u4eba\u306b\u5408\u3063\u305f\u85ac\u3068\u91cf\u3092\u898b\u3064\u3051\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u30dc\u30c4\u30ea\u30cc\u30b9\u7642\u6cd5\u3002<\/p>\n\n\n\n<p>\u7b4b\u8089\u304c\u904e\u5270\u306b\u7dca\u5f35\u3057\u3066\u3044\u308b\u90e8\u5206\u306b\u3001\u30dc\u30c4\u30ea\u30cc\u30b9\u6bd2\u7d20\u3068\u3044\u3046\u85ac\u3092\u6ce8\u5c04\u3057\u307e\u3059\u3002<strong>\u6ce8\u5c04\u3057\u305f\u90e8\u5206\u306e\u7b4b\u8089\u306e\u7dca\u5f35\u3060\u3051\u3092\u3001\u5c40\u6240\u7684\u306b\u7de9\u3081\u3089\u308c\u308b<\/strong>\u6cbb\u7642\u6cd5\u3067\u3059\u3002\u9996\u3084\u624b\u8db3\u306a\u3069\u3001\u7279\u5b9a\u306e\u5834\u6240\u306e\u75c7\u72b6\u304c\u5f37\u3044\u5834\u5408\u306b\u6709\u52b9\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u8133\u6df1\u90e8\u523a\u6fc0\u7642\u6cd5\uff08DBS\uff09\u3002<\/p>\n\n\n\n<p>\u304a\u85ac\u3084\u6ce8\u5c04\u3067\u306e\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u304c\u96e3\u3057\u3044\u91cd\u75c7\u306e\u5834\u5408\u306b\u306f\u3001\u5916\u79d1\u7684\u306a\u624b\u8853\u304c\u691c\u8a0e\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8133\u306e\u6df1\u3044\u90e8\u5206\u306b\u96fb\u6975\u3092\u57cb\u3081\u8fbc\u307f\u3001\u5fae\u5f31\u306a\u96fb\u6c17\u523a\u6fc0\u3092\u9001\u308b\u3053\u3068\u3067\u3001\u7570\u5e38\u306a\u795e\u7d4c\u306e\u6d3b\u52d5\u3092\u8abf\u6574\u3057\u3001\u30b8\u30b9\u30c8\u30cb\u30a2\u306e\u75c7\u72b6\u3092\u6539\u5584\u3055\u305b\u308b\u6cbb\u7642\u6cd5\u3067\u3059\u3002\u3053\u306e\u75c5\u6c17\u306e\u30b8\u30b9\u30c8\u30cb\u30a2\u306b\u5bfe\u3057\u3066DBS\u304c\u6709\u52b9\u3067\u3042\u3063\u305f\u3068\u3044\u3046\u5831\u544a\u3082\u591a\u304f\u306a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E3%83%AA%E3%83%8F%E3%83%93%E3%83%AA%E3%83%86%E3%83%BC%E3%82%B7%E3%83%A7%E3%83%B3\"><\/span><strong>3. \u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u7406\u5b66\u7642\u6cd5\uff08PT\uff09\u3002<\/p>\n\n\n\n<p>\u4f53\u306e\u30d0\u30e9\u30f3\u30b9\u3092\u4fdd\u3064\u7df4\u7fd2\u3084\u3001\u95a2\u7bc0\u304c\u786c\u304f\u306a\u3089\u306a\u3044\u3088\u3046\u306b\u3059\u308b\u30b9\u30c8\u30ec\u30c3\u30c1\u3001\u6b69\u884c\u8a13\u7df4\u306a\u3069\u3092\u884c\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09\u3002<\/p>\n\n\n\n<p>\u624b\u306e\u4f7f\u3044\u306b\u304f\u3055\u304c\u3042\u308b\u5834\u5408\u3001\u65e5\u5e38\u751f\u6d3b\u306e\u52d5\u4f5c\uff08\u98df\u4e8b\u3001\u7740\u66ff\u3048\u3001\u66f8\u5b57\u306a\u3069\uff09\u3092\u3057\u3084\u3059\u304f\u3059\u308b\u305f\u3081\u306e\u5de5\u592b\u3084\u3001\u88dc\u52a9\u5177\u306e\u6d3b\u7528\u306a\u3069\u3092\u7df4\u7fd2\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09\u3002<\/p>\n\n\n\n<p>\u96e3\u8074\u306b\u3088\u308b\u8a00\u8449\u306e\u805e\u304d\u53d6\u308a\u306e\u7df4\u7fd2\u3084\u3001\u98f2\u307f\u8fbc\u307f\u306b\u304f\u3055\u304c\u3042\u308b\u5834\u5408\u306e\u56a5\u4e0b\u8a13\u7df4\u3092\u884c\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E3%81%9D%E3%81%AE%E4%BB%96%E3%81%AE%E3%82%B1%E3%82%A2\"><\/span><strong>4. \u305d\u306e\u4ed6\u306e\u30b1\u30a2<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8996\u529b\u306e\u4f4e\u4e0b\u306b\u5bfe\u3057\u3066\u306f\u3001\u773c\u93e1\u306b\u3088\u308b\u77ef\u6b63\u3084\u3001\u62e1\u5927\u93e1\u306e\u4f7f\u7528\u306a\u3069\u306e\u74b0\u5883\u8abf\u6574\u3092\u884c\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7cbe\u795e\u7684\u306a\u75c7\u72b6\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3084\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u5b89\u5b9a\u5264\u306a\u3069\u306e\u85ac\u3092\u4f7f\u7528\u3057\u3001\u5fc3\u306e\u30b1\u30a2\u3092\u884c\u3044\u307e\u3059\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%AE%B6%E6%97%8F%E3%81%AE%E5%A6%8A%E5%A8%A0%E8%A8%88%E7%94%BB%E3%81%A8NIPT%E3%83%BB%E9%81%BA%E4%BC%9D%E3%82%AB%E3%82%A6%E3%83%B3%E3%82%BB%E3%83%AA%E3%83%B3%E3%82%B0%E3%81%AE%E5%BD%B9%E5%89%B2\"><\/span><strong>\u5bb6\u65cf\u306e\u598a\u5a20\u8a08\u753b\u3068NIPT\u30fb\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u5f79\u5272<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u7d50\u8ad6\u304b\u3089\u8a00\u3046\u3068\u3001\u901a\u5e38\u306eNIPT\uff08\u65b0\u578b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\uff09\u306f21\u30c8\u30ea\u30bd\u30df\u30fc\u306a\u3069\u67d3\u8272\u4f53\u306e\u6570\u7684\u7570\u5e38\u3092\u8abf\u3079\u308b\u691c\u67fb\u3067\u3042\u308a\u3001TIMM8A\u306e\u5909\u7570\u304c\u539f\u56e0\u3068\u306a\u308bDDS1\u305d\u306e\u3082\u306e\u3092\u76f4\u63a5\u8abf\u3079\u308b\u691c\u67fb\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/strong>\u5bb6\u7cfb\u5185\u306bDDS1\u306e\u65b9\u304c\u3044\u308b\u5834\u5408\u3001\u6b21\u306e\u598a\u5a20\u306b\u5411\u3051\u3066\u3069\u306e\u3088\u3046\u306a\u9078\u629e\u80a2\u304c\u3042\u308b\u306e\u304b\u3001\u7591\u554f\u306b\u601d\u3046\u65b9\u3082\u591a\u3044\u306e\u3067\u306f\u306a\u3044\u3067\u3057\u3087\u3046\u304b\u3002<\/p>\n\n\n\n<p>\u5bb6\u7cfb\u5185\u3067\u539f\u56e0\u907a\u4f1d\u5b50\u304c\u3059\u3067\u306b\u7279\u5b9a\u3055\u308c\u3066\u3044\u308b\u5834\u5408\u306f\u3001\u305d\u306e\u5909\u7570\u3092\u7684\u3092\u7d5e\u3063\u3066\u8abf\u3079\u308b\u691c\u67fb\u3092\u500b\u5225\u306b\u8a2d\u8a08\u3059\u308b\u65b9\u6cd5\u304c\u3042\u308a\u307e\u3059\u3002\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\uff08WES\uff09\u3084\u5168\u30b2\u30ce\u30e0\u89e3\u6790\uff08WGS\uff09\u306f\u3001\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u3092\u5e45\u5e83\u304f\u8abf\u3079\u308b\u6280\u8853\u3067\u3001\u65e2\u77e5\u306e\u5909\u7570\u304c\u3042\u308b\u5bb6\u7cfb\u3067\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u306e\u691c\u8a0e\u6750\u6599\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u305d\u308c\u305e\u308c\u306e\u9055\u3044\u306f\u3001\u4ee5\u4e0b\u306e\u30da\u30fc\u30b8\u3067\u8a73\u3057\u304f\u89e3\u8aac\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/exome-sequencing-wes\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\uff08WES\uff09\u3068\u306f\uff1fNIPT\u3068\u306e\u9055\u3044\u3092\u89e3\u8aac <\/div>\n          <div class=\"blog-card-excerpt\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u304c\u63d0\u4f9b\u3059\u308b\u300c\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\uff08WES\uff09\u300d\u306b\u3064\u3044\u3066\u5206\u304b\u308a\u3084\u3059\u304f\u89e3\u8aac\u3002\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b5\u30fc\u3092\u7528\u3044\u305f\u9ad8\u5ea6\u306a\u907a\u4f1d\u5b50\u691c\u67fb\u306e\u4ed5\u7d44\u307f\u3084\u3001\u5168\u30b2\u30ce\u30e0...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n    <a href=\"\/nipt\/whole-genome-sequencing\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u5168\u30b2\u30ce\u30e0\u89e3\u6790\uff08WGS\uff09\u3068\u306f\uff1fWES\u3068\u306e\u9055\u3044\u3092\u89e3\u8aac <\/div>\n          <div class=\"blog-card-excerpt\">\u80ce\u5150\u306e\u5168\u8a2d\u8a08\u56f3\u3092\u8aad\u307f\u89e3\u304f\u3001\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30afNIPT\u306e\u6700\u9ad8\u5cf0\u300c\u30db\u30fc\u30eb\u30b2\u30ce\u30e0\u89e3\u6790\uff08WGS\uff09\u30d7\u30e9\u30f3\uff08550,000\u5186\uff09\u300d\u300230\u5104\u5869\u57fa\u5bfe\u3059\u3079\u3066\u3092\u5bfe\u8c61\u306b...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<p>\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30afNIPT\u306f\u3001<strong>\u691c\u67fb\u5b9f\u7e3e75,000\u4ef6\u8d85<\/strong>\u3001<strong>\u5229\u7528\u8005\u6e80\u8db3\u5ea698.8%<\/strong>\u3068\u3044\u3046\u5b9f\u7e3e\u306e\u3082\u3068\u3001\u56fd\u5185\u306e\u691c\u67fb\u6a5f\u95a2\u300c\u6771\u4eac\u885b\u751f\u691c\u67fb\u6240\u300d\u3068\u9023\u643a\u3057\u3001<strong>\u5168\u9805\u76ee\u611f\u5ea699.9%\u4ee5\u4e0a<\/strong>\u3001<strong>\u6700\u77ed2\u301c5\u65e5<\/strong>\u3067\u7d50\u679c\u3092\u5831\u544a\u3059\u308b\u4f53\u5236\u3092\u6574\u3048\u3066\u3044\u307e\u3059\u3002\u5168\u56fd10\u76f4\u55b6\u9662\u3068\u9023\u643a125\u9662\u306e\u30cd\u30c3\u30c8\u30ef\u30fc\u30af\u304c\u3042\u308a\u3001\u901a\u9662\u3057\u3084\u3059\u3044\u74b0\u5883\u3067\u76f8\u8ac7\u3067\u304d\u308b\u3053\u3068\u3082\u7279\u5fb4\u3067\u3059\u3002\u6a19\u6e96NIPT\u306e\u5bfe\u8c61\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosomal-abnormality\/\">\u67d3\u8272\u4f53\u7570\u5e38<\/a>\u304c\u4e2d\u5fc3\u3067\u3059\u304c\u3001\u907a\u4f1d\u6027\u75be\u60a3\u5168\u822c\u306b\u95a2\u3059\u308b\u76f8\u8ac7\u7a93\u53e3\u3068\u3057\u3066\u3001\u307e\u305a\u306fLINE\u3084\u96fb\u8a71\u3067\u304a\u554f\u3044\u5408\u308f\u305b\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<div style=\"text-align:center;margin:2em 0;\"><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/line-registration\/\" target=\"_blank\" rel=\"noopener\" style=\"display:inline-block;padding:0.8em 2em;background:#e8608a;color:#fff;border-radius:30px;text-decoration:none;font-weight:bold;\">\u907a\u4f1d\u6027\u75be\u60a3\u306b\u3064\u3044\u3066LINE\u3067\u7121\u6599\u76f8\u8ac7\u3059\u308b<\/a><\/div>\n\n\n\n<p>\u8a3a\u65ad\u5f8c\u306e\u304d\u3087\u3046\u3060\u3044\u5150\u306e\u30b1\u30a2\u3084\u3001\u5bb6\u65cf\u5168\u4f53\u306e\u652f\u63f4\u4f53\u5236\u3001\u76f8\u8ac7\u5148\u306e\u63a2\u3057\u65b9\u306b\u3064\u3044\u3066\u77e5\u308a\u305f\u3044\u65b9\u306f\u3001\u4ee5\u4e0b\u306e\u8a18\u4e8b\u3082\u3042\u308f\u305b\u3066\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/nipt-family-support-sibling-care-mental-health\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u304d\u3087\u3046\u3060\u3044\u5150\u306e\u30b1\u30a2\u3068\u306f\uff1fNIPT\u967d\u6027\u5f8c\u306e\u5bb6\u65cf\u652f\u63f4\u30ac\u30a4\u30c9 <\/div>\n          <div class=\"blog-card-excerpt\">NIPT\u3067\u30c0\u30a6\u30f3\u75c7\u5019\u7fa4\u306a\u3069\u304c\u5224\u660e\u3057\u305f\u969b\u3001\u89aa\u304c\u6700\u3082\u6050\u308c\u308b\u300c\u5bb6\u65cf\u306e\u5171\u5012\u308c\u300d\u3002\u305d\u308c\u3092\u9632\u3050\u305f\u3081\u306e\u30ec\u30b9\u30d1\u30a4\u30c8\u30b1\u30a2\uff08\u4f11\u606f\u5236\u5ea6\uff09\u3001\u5144\u5f1f\u59c9\u59b9\uff08\u304d\u3087\u3046\u3060\u3044\u5150\uff09...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n    <a href=\"\/nipt\/nipt-consultation-support-system-planning\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">NIPT\u967d\u6027\u3001\u8ab0\u306b\u983c\u308b\uff1f\u4eba\u751f\u3092\u5c0e\u304f\u300c\u8a08\u753b\u76f8\u8ac7\u300d\u3068\u652f\u63f4\u306e\u30d7\u30ed <\/div>\n          <div class=\"blog-card-excerpt\">NIPT\u3067\u30c0\u30a6\u30f3\u75c7\u5019\u7fa4\u306a\u3069\u304c\u5224\u660e\u3057\u305f\u969b\u3001\u89aa\u304c\u983c\u308b\u3079\u304d\u516c\u7684\u5236\u5ea6\u300c\u76f8\u8ac7\u652f\u63f4\u4e8b\u696d\u300d\u3068\u306f\uff1f\u798f\u7949\u30b5\u30fc\u30d3\u30b9\u306e\u5229\u7528\u8a08\u753b\u4f5c\u6210\u3001\u30b1\u30a2\u30de\u30cd\u30b8\u30e1\u30f3\u30c8\u3001\u5c06\u6765\u306e\u81ea\u7acb\u652f...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<div style=\"text-align:center;margin:2em 0;\"><a href=\"https:\/\/mypage-nipt-reservation.hiro-clinic.or.jp\/registration\" target=\"_blank\" rel=\"noopener\" style=\"display:inline-block;padding:0.8em 2em;background:#e8608a;color:#fff;border-radius:30px;text-decoration:none;font-weight:bold;\">NIPT\u306e\u4e88\u7d04\u30fb\u8a73\u7d30\u3092\u307f\u308b<\/a><\/div>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"qa\"><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<p>\u30b8\u30b9\u30c8\u30cb\u30a2\u30fb\u96e3\u8074\u75c7\u5019\u7fa41\u578b\u306b\u3064\u3044\u3066\u3001\u5b9f\u969b\u306b\u3088\u304f\u5bc4\u305b\u3089\u308c\u308b\u7591\u554f\u306b\u304a\u7b54\u3048\u3057\u307e\u3059\u3002\u6c17\u306b\u306a\u308b\u9805\u76ee\u304b\u3089\u8aad\u3093\u3067\u307f\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_DDS1%E3%81%AF%E6%B2%BB%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span>Q. DDS1\u306f\u6cbb\u308a\u307e\u3059\u304b\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u73fe\u5728\u306e\u3068\u3053\u308d\u3001\u539f\u56e0\u3068\u306a\u308b\u907a\u4f1d\u5b50\u306e\u5909\u5316\u305d\u306e\u3082\u306e\u3092\u4fee\u5fa9\u3059\u308b\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002\u305f\u3060\u3057\u3001\u4eba\u5de5\u5185\u8033\u3084\u8133\u6df1\u90e8\u523a\u6fc0\u7642\u6cd5\uff08DBS\uff09\u306a\u3069\u3001\u75c7\u72b6\u3054\u3068\u306e\u5bfe\u75c7\u7642\u6cd5\u306b\u3088\u3063\u3066\u751f\u6d3b\u306e\u8cea\u3092\u9ad8\u3081\u308b\u3053\u3068\u306f\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_%E3%81%8D%E3%82%87%E3%81%86%E3%81%A0%E3%81%84%E3%81%AB%E3%82%82%E9%81%BA%E4%BC%9D%E3%81%97%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span>Q. \u304d\u3087\u3046\u3060\u3044\u306b\u3082\u907a\u4f1d\u3057\u307e\u3059\u304b\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>X\u9023\u9396\u6027\u6f5c\u6027\u907a\u4f1d\u3068\u3044\u3046\u5f62\u5f0f\u306e\u305f\u3081\u3001\u6bcd\u89aa\u304c\u4fdd\u56e0\u8005\u306e\u5834\u5408\u3001\u7537\u306e\u5b50\u306f50%\u306e\u78ba\u7387\u3067\u767a\u75c7\u3057\u3001\u5973\u306e\u5b50\u306f50%\u306e\u78ba\u7387\u3067\u4fdd\u56e0\u8005\u3068\u306a\u308a\u307e\u3059\u3002\u5bb6\u7cfb\u5185\u3067\u306e\u907a\u4f1d\u30ea\u30b9\u30af\u306e\u8a73\u7d30\u306f\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u78ba\u8a8d\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_%E9%80%9A%E5%B8%B8%E3%81%AENIPT%E3%81%A7DDS1%E3%81%AF%E3%82%8F%E3%81%8B%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span>Q. \u901a\u5e38\u306eNIPT\u3067DDS1\u306f\u308f\u304b\u308a\u307e\u3059\u304b\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u901a\u5e38\u306eNIPT\u306f21\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\u306e\u6570\u7684\u7570\u5e38\u304c\u5bfe\u8c61\u3067\u3001\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u3067\u3042\u308bDDS1\u306f\u5bfe\u8c61\u306b\u542b\u307e\u308c\u307e\u305b\u3093\u3002\u5bb6\u7cfb\u5185\u3067\u539f\u56e0\u907a\u4f1d\u5b50\u304c\u5224\u660e\u3057\u3066\u3044\u308b\u5834\u5408\u306f\u3001WES\u3084WGS\u3092\u7528\u3044\u305f\u500b\u5225\u306e\u691c\u67fb\u8a2d\u8a08\u304c\u9078\u629e\u80a2\u306e\u4e00\u3064\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_%E4%BA%BA%E5%B7%A5%E5%86%85%E8%80%B3%E3%81%AF%E3%81%84%E3%81%A4%E9%A0%83%E6%A4%9C%E8%A8%8E%E3%81%97%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span>Q. \u4eba\u5de5\u5185\u8033\u306f\u3044\u3064\u9803\u691c\u8a0e\u3057\u307e\u3059\u304b\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u88dc\u8074\u5668\u3067\u306e\u52b9\u679c\u304c\u4e0d\u5341\u5206\u306b\u306a\u3063\u305f\u6642\u70b9\u3067\u691c\u8a0e\u3055\u308c\u308b\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\u3059\u3002\u3053\u306e\u75c5\u6c17\u306e\u96e3\u8074\u306b\u306f\u4eba\u5de5\u5185\u8033\u306e\u52b9\u679c\u304c\u9ad8\u3044\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u304a\u308a\u3001\u8033\u9f3b\u54bd\u5589\u79d1\u3067\u306e\u5b9a\u671f\u7684\u306a\u8074\u529b\u8a55\u4fa1\u3092\u3082\u3068\u306b\u5224\u65ad\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_%E5%A5%B3%E6%80%A7%E4%BF%9D%E5%9B%A0%E8%80%85%E3%81%AB%E7%97%87%E7%8A%B6%E3%81%AF%E5%87%BA%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span>Q. \u5973\u6027\u4fdd\u56e0\u8005\u306b\u75c7\u72b6\u306f\u51fa\u307e\u3059\u304b\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5973\u6027\u4fdd\u56e0\u8005\u306e\u591a\u304f\u306f\u7121\u75c7\u72b6\u304b\u3001\u8efd\u5ea6\u306e\u96e3\u8074\u3084\u90e8\u5206\u7684\u306a\u30b8\u30b9\u30c8\u30cb\u30a2\u306b\u3068\u3069\u307e\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u500b\u4eba\u5dee\u304c\u3042\u308b\u305f\u3081\u3001\u6c17\u306b\u306a\u308b\u75c7\u72b6\u304c\u3042\u308c\u3070\u533b\u7642\u6a5f\u95a2\u306b\u76f8\u8ac7\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_%E5%AE%B6%E6%97%8F%E6%80%A7%E3%81%AE%E5%A4%89%E7%95%B0%E3%81%8C%E3%82%8F%E3%81%8B%E3%81%A3%E3%81%9F%E3%82%89%E3%80%81%E6%AC%A1%E3%81%AE%E5%A6%8A%E5%A8%A0%E3%81%AF%E3%81%A9%E3%81%86%E3%81%99%E3%82%8C%E3%81%B0%E3%81%84%E3%81%84%E3%81%A7%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span>Q. \u5bb6\u65cf\u6027\u306e\u5909\u7570\u304c\u308f\u304b\u3063\u305f\u3089\u3001\u6b21\u306e\u598a\u5a20\u306f\u3069\u3046\u3059\u308c\u3070\u3044\u3044\u3067\u3059\u304b\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5bb6\u7cfb\u5185\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u304c\u5224\u660e\u3057\u3066\u3044\u308b\u5834\u5408\u3001\u6b21\u306e\u598a\u5a20\u3092\u8003\u3048\u308b\u969b\u306b\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3092\u53d7\u3051\u308b\u3053\u3068\u3067\u3001\u691c\u67fb\u306e\u9078\u629e\u80a2\u3084\u9032\u3081\u65b9\u3092\u6574\u7406\u3067\u304d\u307e\u3059\u3002\u307e\u305a\u306f\u3054\u5bb6\u65cf\u306e\u72b6\u6cc1\u3092\u5c02\u9580\u5bb6\u306b\u5171\u6709\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%BE%E3%81%A8%E3%82%81\"><\/span><strong>\u307e\u3068\u3081<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u30b8\u30b9\u30c8\u30cb\u30a2\u30fb\u96e3\u8074\u75c7\u5019\u7fa41\u578b\uff08DDS1\uff09\u306b\u3064\u3044\u3066\u306e\u91cd\u8981\u306a\u30dd\u30a4\u30f3\u30c8\u3092\u632f\u308a\u8fd4\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u75c5\u6c17\u306e\u672c\u8cea\u3002<\/p>\n\n\n\n<p>TIMM8A\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308a\u3001\u7d30\u80de\u5185\u306e\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u306e\u50cd\u304d\u304c\u4f4e\u4e0b\u3057\u3001\u795e\u7d4c\u7d30\u80de\u304c\u30a8\u30cd\u30eb\u30ae\u30fc\u4e0d\u8db3\u306b\u306a\u308b\u3053\u3068\u3067\u8d77\u3053\u308b\u75c5\u6c17\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u4e3b\u306a\u75c7\u72b6<\/p>\n\n\n\n<p>\u5e7c\u5c11\u671f\u304b\u3089\u306e\u9032\u884c\u6027\u96e3\u8074\u3068\u3001\u601d\u6625\u671f\u4ee5\u964d\u306b\u73fe\u308c\u308b\u30b8\u30b9\u30c8\u30cb\u30a2\uff08\u7b4b\u8089\u306e\u7dca\u5f35\u7570\u5e38\uff09\u304c\u4e8c\u5927\u7279\u5fb4\u3067\u3059\u3002\u8996\u529b\u3084\u7cbe\u795e\u9762\u306b\u5909\u5316\u304c\u51fa\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u539f\u56e0<\/p>\n\n\n\n<p>X\u9023\u9396\u6027\u6f5c\u6027\u907a\u4f1d\u3068\u3044\u3046\u5f62\u5f0f\u3092\u3068\u308a\u3001\u4e3b\u306b\u7537\u6027\u306b\u767a\u75c7\u3057\u307e\u3059\u3002\u6bcd\u89aa\u304c\u4fdd\u56e0\u8005\u3067\u3042\u308b\u5834\u5408\u3068\u3001\u7a81\u7136\u5909\u7570\u306e\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6cbb\u7642\u306e\u5e0c\u671b<\/p>\n\n\n\n<p>\u4eba\u5de5\u5185\u8033\u306b\u3088\u308b\u8074\u529b\u306e\u6539\u5584\u3084\u3001DBS\u624b\u8853\u306b\u3088\u308b\u904b\u52d5\u75c7\u72b6\u306e\u6539\u5584\u306a\u3069\u3001\u751f\u6d3b\u3092\u652f\u3048\u308b\u6709\u52b9\u306a\u624b\u6bb5\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8a3a\u65ad\u304c\u3064\u3044\u305f\u3070\u304b\u308a\u306e\u4eca\u306f\u3001\u60c5\u5831\u306e\u591a\u3055\u306b\u5727\u5012\u3055\u308c\u3066\u3057\u307e\u3046\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002<strong>\u4e00\u5ea6\u306b\u3059\u3079\u3066\u3092\u7406\u89e3\u3057\u3088\u3046\u3068\u305b\u305a\u3001\u307e\u305a\u306f\u4e3b\u6cbb\u533b\u3084\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u306b\u3001\u6c17\u306b\u306a\u308b\u3053\u3068\u3092\u4e00\u3064\u305a\u3064\u76f8\u8ac7\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/strong>\u6b21\u306e\u598a\u5a20\u3092\u8003\u3048\u308b\u969b\u306e\u691c\u67fb\u3084\u3001\u304d\u3087\u3046\u3060\u3044\u5150\u306e\u30b1\u30a2\u306b\u3064\u3044\u3066\u60a9\u3093\u3060\u3068\u304d\u3082\u3001\u5c02\u9580\u5bb6\u306b\u983c\u308b\u3053\u3068\u304c\u6700\u521d\u306e\u4e00\u6b69\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"text-align:center;margin:2em 0;\"><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/line-registration\/\" target=\"_blank\" rel=\"noopener\" style=\"display:inline-block;padding:0.8em 2em;background:#e8608a;color:#fff;border-radius:30px;text-decoration:none;font-weight:bold;\">LINE\u3067\u7121\u6599\u76f8\u8ac7\u3059\u308b<\/a><\/div>\n\n\n\n<div class=\"wp-block-group references\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<p>\u3010\u53c2\u8003\u6587\u732e\u3011<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>GeneReviews\uff08NCBI Bookshelf\uff09 &#8211; <a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1216\/\" target=\"_blank\" rel=\"noopener\">Deafness-Dystonia-Optic Neuronopathy Syndrome<\/a><\/li>\n\n\n\n<li>MedlinePlus Genetics\uff08\u7c73\u56fd\u56fd\u7acb\u533b\u5b66\u56f3\u66f8\u9928\uff09 &#8211; <a href=\"https:\/\/medlineplus.gov\/genetics\/condition\/deafness-dystonia-optic-neuronopathy-syndrome\/\" target=\"_blank\" rel=\"noopener\">Deafness-dystonia-optic neuronopathy syndrome<\/a><\/li>\n\n\n\n<li>OMIM &#8211; <a href=\"https:\/\/omim.org\/entry\/304700\" target=\"_blank\" rel=\"noopener\">Mohr-Tranebjaerg Syndrome; MTS (#304700)<\/a><\/li>\n\n\n\n<li>\u4e00\u822c\u793e\u56e3\u6cd5\u4eba\u65e5\u672c\u8033\u9f3b\u54bd\u5589\u79d1\u982d\u9838\u90e8\u5916\u79d1\u5b66\u4f1a &#8211; <a href=\"https:\/\/www.jibika.or.jp\/modules\/hearingloss\/index.php?content_id=3\" target=\"_blank\" rel=\"noopener\">\u4eba\u5de5\u5185\u8033\u306b\u3064\u3044\u3066<\/a><\/li>\n\n\n\n<li>\u96e3\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc &#8211; <a href=\"https:\/\/www.nanbyou.or.jp\/\" target=\"_blank\" rel=\"noopener\">\u96e3\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/a><\/li>\n<\/ul>\n<\/div><\/div>\n\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\": 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