{"id":101559,"date":"2025-06-17T14:09:54","date_gmt":"2025-06-17T05:09:54","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=101559"},"modified":"2026-07-27T05:21:36","modified_gmt":"2026-07-26T20:21:36","slug":"cln3-juvenile-batten-disease-overview","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/cln3-juvenile-batten-disease-overview\/","title":{"rendered":"\u82e5\u5e74\u578b\u795e\u7d4c\u30bb\u30ed\u30a4\u30c9\u30ea\u30dd\u30d5\u30b9\u30c1\u30f3\u75c73\u578b\uff08CLN3\u75c5\uff09"},"content":{"rendered":"\n<div style=\"height:18px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p><strong>CLN3\u75c5\uff08\u82e5\u5e74\u578b\u30d0\u30c3\u30c6\u30f3\u75c5\uff09\u306f\u30014\u301c7\u6b73\u3054\u308d\u306e\u8996\u529b\u4f4e\u4e0b\u304b\u3089\u59cb\u307e\u308b\u3001\u975e\u5e38\u306b\u307e\u308c\u306a\u907a\u4f1d\u6027\u306e\u795e\u7d4c\u5909\u6027\u75be\u60a3\u3067\u3059\u3002<\/strong>\u304a\u5b50\u3055\u3093\u306e\u300c\u898b\u3048\u306b\u304f\u3055\u300d\u306b\u6c17\u3065\u3044\u305f\u3054\u5bb6\u65cf\u306b\u3068\u3063\u3066\u3001\u805e\u304d\u6163\u308c\u306a\u3044\u75c5\u540d\u3068\u5c06\u6765\u3078\u306e\u4e0d\u5b89\u306f\u8a08\u308a\u77e5\u308c\u306a\u3044\u3082\u306e\u3060\u3068\u601d\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u8a18\u4e8b\u3067\u306f\u3001CLN3\u907a\u4f1d\u5b50\u306e\u50cd\u304d\u304b\u3089\u3001\u75c7\u72b6\u306e\u7d4c\u904e\u3001\u8a3a\u65ad\u30fb\u6cbb\u7642\u306e\u6d41\u308c\u3001\u65e5\u5e38\u751f\u6d3b\u3067\u306e\u5de5\u592b\u3001\u305d\u3057\u3066<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u30fbNIPT\u3068\u306e\u95a2\u4fc2\u307e\u3067\u3092\u6574\u7406\u3057\u3066\u304a\u4f1d\u3048\u3057\u307e\u3059\u3002\u7c73\u56fd\u56fd\u7acb\u885b\u751f\u7814\u7a76\u6240\uff08NIH\uff09\u306e\u5e0c\u5c11\u75be\u60a3\u60c5\u5831\u30bb\u30f3\u30bf\u30fcGARD\u3001\u7c73\u56fd\u56fd\u7acb\u533b\u5b66\u56f3\u66f8\u9928\uff08NLM\uff09\u306eMedlinePlus Genetics\u3001NCBI Bookshelf\u306eStatPearls\u3001\u5c0f\u5150\u6162\u6027\u7279\u5b9a\u75be\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc\u306a\u3069\u516c\u7684\u6a5f\u95a2\u30fb\u5b66\u8853\u60c5\u5831\u306b\u3082\u3068\u3065\u3044\u3066\u89e3\u8aac\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:20px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<div style=\"border: 4px solid #e9e4f5; background-color: #fcfbff; border-radius: 12px; padding: 1.5rem; margin: 1.5rem 0 2.5rem; font-family: 'Helvetica Neue', sans-serif; line-height: 1.6; box-shadow: 0 2px 8px rgba(0, 0, 0, 0.03);\">\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\/cln3-juvenile-batten-disease-overview\/#%E3%82%84%E3%81%95%E3%81%97%E3%81%84%E3%81%BE%E3%81%A8%E3%82%81\" >\u3084\u3055\u3057\u3044\u307e\u3068\u3081<\/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\/cln3-juvenile-batten-disease-overview\/#1_CLN3%E7%97%85%EF%BC%88%E8%8B%A5%E5%B9%B4%E5%9E%8B%E3%83%90%E3%83%83%E3%83%86%E3%83%B3%E7%97%85%EF%BC%89%E3%81%A8%E3%81%AF\" >1. CLN3\u75c5\uff08\u82e5\u5e74\u578b\u30d0\u30c3\u30c6\u30f3\u75c5\uff09\u3068\u306f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cln3-juvenile-batten-disease-overview\/#2_%E4%B8%BB%E3%81%AA%E7%97%87%E7%8A%B6%EF%BC%9A%E8%A6%96%E5%8A%9B%E4%BD%8E%E4%B8%8B%E3%81%8B%E3%82%89%E3%81%AF%E3%81%98%E3%81%BE%E3%82%8B%E9%80%B2%E8%A1%8C%E6%80%A7%E3%81%AE%E7%B5%8C%E9%81%8E\" >2. \u4e3b\u306a\u75c7\u72b6\uff1a\u8996\u529b\u4f4e\u4e0b\u304b\u3089\u306f\u3058\u307e\u308b\u9032\u884c\u6027\u306e\u7d4c\u904e<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cln3-juvenile-batten-disease-overview\/#%E5%88%9D%E6%9C%9F%E7%97%87%E7%8A%B6%EF%BC%884%E3%80%9C8%E6%AD%B3%E3%81%94%E3%82%8D%EF%BC%89\" >\u521d\u671f\u75c7\u72b6\uff084\u301c8\u6b73\u3054\u308d\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cln3-juvenile-batten-disease-overview\/#%E4%B8%AD%E6%9C%9F%E4%BB%A5%E9%99%8D%EF%BC%8810%E3%80%9C20%E6%AD%B3%E3%81%94%E3%82%8D%EF%BC%89\" >\u4e2d\u671f\u4ee5\u964d\uff0810\u301c20\u6b73\u3054\u308d\uff09<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cln3-juvenile-batten-disease-overview\/#3_%E5%8E%9F%E5%9B%A0%EF%BC%9ACLN3%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%A8%E3%83%A9%E3%82%A4%E3%82%BD%E3%82%BE%E3%83%BC%E3%83%A0%E3%81%AE%E3%81%AF%E3%81%9F%E3%82%89%E3%81%8D\" >3. \u539f\u56e0\uff1aCLN3\u907a\u4f1d\u5b50\u3068\u30e9\u30a4\u30bd\u30be\u30fc\u30e0\u306e\u306f\u305f\u3089\u304d<\/a><\/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\/cln3-juvenile-batten-disease-overview\/#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><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cln3-juvenile-batten-disease-overview\/#5_%E6%B2%BB%E7%99%82%E6%B3%95%E3%81%A8%E7%AE%A1%E7%90%86%EF%BC%9A%E7%8F%BE%E5%9C%A8%E3%81%AE%E5%AF%BE%E7%97%87%E7%99%82%E6%B3%95%E3%81%A8%E5%B0%86%E6%9D%A5%E3%81%AE%E5%8F%AF%E8%83%BD%E6%80%A7\" >5. \u6cbb\u7642\u6cd5\u3068\u7ba1\u7406\uff1a\u73fe\u5728\u306e\u5bfe\u75c7\u7642\u6cd5\u3068\u5c06\u6765\u306e\u53ef\u80fd\u6027<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cln3-juvenile-batten-disease-overview\/#%E5%AF%BE%E7%97%87%E7%99%82%E6%B3%95%E3%81%A8%E3%82%B1%E3%82%A2\" >\u5bfe\u75c7\u7642\u6cd5\u3068\u30b1\u30a2<\/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\/cln3-juvenile-batten-disease-overview\/#%E7%A0%94%E7%A9%B6%E6%AE%B5%E9%9A%8E%E3%81%AB%E3%81%82%E3%82%8B%E6%B2%BB%E7%99%82%E6%B3%95\" >\u7814\u7a76\u6bb5\u968e\u306b\u3042\u308b\u6cbb\u7642\u6cd5<\/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\/cln3-juvenile-batten-disease-overview\/#6_%E4%BA%88%E5%BE%8C%EF%BC%9A%E7%B5%8C%E9%81%8E%E3%81%AE%E8%A6%8B%E9%80%9A%E3%81%97%E3%81%A8%E5%80%8B%E4%BA%BA%E5%B7%AE\" >6. \u4e88\u5f8c\uff1a\u7d4c\u904e\u306e\u898b\u901a\u3057\u3068\u500b\u4eba\u5dee<\/a><\/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\/cln3-juvenile-batten-disease-overview\/#7_%E6%97%A5%E5%B8%B8%E7%94%9F%E6%B4%BB%E3%81%AE%E5%B7%A5%E5%A4%AB%E3%81%A8%E3%81%94%E5%AE%B6%E6%97%8F%E3%81%B8%E3%81%AE%E3%82%B5%E3%83%9D%E3%83%BC%E3%83%88\" >7. \u65e5\u5e38\u751f\u6d3b\u306e\u5de5\u592b\u3068\u3054\u5bb6\u65cf\u3078\u306e\u30b5\u30dd\u30fc\u30c8<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-13\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cln3-juvenile-batten-disease-overview\/#8_%E5%87%BA%E7%94%9F%E5%89%8D%E8%A8%BA%E6%96%AD%E3%83%BBNIPT%E3%81%A8CLN3%E7%97%85%E3%81%AE%E9%96%A2%E4%BF%82\" >8. \u51fa\u751f\u524d\u8a3a\u65ad\u30fbNIPT\u3068CLN3\u75c5\u306e\u95a2\u4fc2<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cln3-juvenile-batten-disease-overview\/#9_%E3%81%BE%E3%81%A8%E3%82%81\" >9. \u307e\u3068\u3081<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-15\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cln3-juvenile-batten-disease-overview\/#%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-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cln3-juvenile-batten-disease-overview\/#CLN3%E7%97%85%EF%BC%88%E8%8B%A5%E5%B9%B4%E5%9E%8B%E3%83%90%E3%83%83%E3%83%86%E3%83%B3%E7%97%85%EF%BC%89%E3%81%A8%E3%81%AF%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E7%97%85%E6%B0%97%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\" >CLN3\u75c5\uff08\u82e5\u5e74\u578b\u30d0\u30c3\u30c6\u30f3\u75c5\uff09\u3068\u306f\u3069\u306e\u3088\u3046\u306a\u75c5\u6c17\u3067\u3059\u304b\u3002<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cln3-juvenile-batten-disease-overview\/#CLN3%E7%97%85%E3%81%AF%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\" >CLN3\u75c5\u306f\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-18\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cln3-juvenile-batten-disease-overview\/#CLN3%E7%97%85%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\" >CLN3\u75c5\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-19\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cln3-juvenile-batten-disease-overview\/#%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E6%A4%9C%E6%9F%BB%E3%81%A7%E8%A8%BA%E6%96%AD%E3%81%95%E3%82%8C%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >\u3069\u306e\u3088\u3046\u306a\u691c\u67fb\u3067\u8a3a\u65ad\u3055\u308c\u307e\u3059\u304b\u3002<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-20\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cln3-juvenile-batten-disease-overview\/#%E6%B2%BB%E7%99%82%E6%B3%95%E3%81%AF%E3%81%82%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u3059\u304b\u3002<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-21\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cln3-juvenile-batten-disease-overview\/#%E7%B5%8C%E6%B8%88%E7%9A%84%E3%81%AA%E6%94%AF%E6%8F%B4%E5%88%B6%E5%BA%A6%E3%81%AF%E3%81%82%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >\u7d4c\u6e08\u7684\u306a\u652f\u63f4\u5236\u5ea6\u306f\u3042\u308a\u307e\u3059\u304b\u3002<\/a><\/li><\/ul><\/li><\/ul><\/nav><\/div>\n<h2 style=\"margin-top: 0; margin-bottom: 0.75rem; font-size: 1.25rem; color: #7e6cae; text-align: left; border: none; border-bottom: none; padding-bottom: 0; display: block;\"><span class=\"ez-toc-section\" id=\"%E3%82%84%E3%81%95%E3%81%97%E3%81%84%E3%81%BE%E3%81%A8%E3%82%81\"><\/span>\u3084\u3055\u3057\u3044\u307e\u3068\u3081<span class=\"ez-toc-section-end\"><\/span><\/h2>\n  <p style=\"margin: 0; font-size: 1rem; color: #444;\">\n    CLN3\u75c5\uff08\u82e5\u5e74\u578b\u30d0\u30c3\u30c6\u30f3\u75c5\uff09\u306f\u3001\u5b50\u3069\u3082\u306e\u3053\u308d\u306b\u8996\u529b\u306e\u4f4e\u4e0b\u304b\u3089\u59cb\u307e\u308b\u3001\u307e\u308c\u306a\u907a\u4f1d\u6027\u306e\u795e\u7d4c\u306e\u75c5\u6c17\u3067\u3059\u3002<br>\n    \u75c5\u6c17\u304c\u9032\u884c\u3059\u308b\u306b\u3064\u308c\u3066\u3001\u5b66\u7fd2\u80fd\u529b\u3001\u8a00\u8a9e\u80fd\u529b\u3001\u904b\u52d5\u6a5f\u80fd\u304c\u5c11\u3057\u305a\u3064\u5f71\u97ff\u3092\u53d7\u3051\u3001\u3066\u3093\u304b\u3093\u3084\u5fc3\u306e\u75c7\u72b6\u304c\u51fa\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<br>\n    \u3053\u306e\u8a18\u4e8b\u3067\u306f\u3001\u75c5\u6c17\u306e\u3057\u304f\u307f\u3001\u8a3a\u65ad\u306e\u6d41\u308c\u3001\u6cbb\u7642\u65b9\u6cd5\u3001\u65e5\u5e38\u751f\u6d3b\u3067\u306e\u30b5\u30dd\u30fc\u30c8\u306b\u3064\u3044\u3066\u3001\u308f\u304b\u308a\u3084\u3059\u304f\u8a73\u3057\u304f\u89e3\u8aac\u3057\u3066\u3044\u307e\u3059\u3002<br>\n    \u5c11\u3057\u3067\u3082\u3054\u5bb6\u65cf\u306e\u4e0d\u5b89\u3092\u6e1b\u3089\u3057\u3001\u533b\u7642\u30b9\u30bf\u30c3\u30d5\u3068\u3088\u308a\u826f\u304f\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u3092\u53d6\u308b\u305f\u3081\u306e\u52a9\u3051\u306b\u306a\u308c\u3070\u5e78\u3044\u3067\u3059\u3002<br>\n    CLN3\u75c5\u3068\u8a3a\u65ad\u3055\u308c\u305f\u304a\u5b50\u3055\u3093\u3001\u3054\u5bb6\u65cf\u3001\u305d\u3057\u3066\u30b5\u30dd\u30fc\u30c8\u3059\u308b\u65b9\u3005\u306b\u3068\u3063\u3066\u3001\u5927\u5207\u306a\u624b\u304c\u304b\u308a\u3068\u306a\u308b\u5185\u5bb9\u3067\u3059\u3002\n  <\/p>\n<\/div>\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;\">\u3053\u306e\u8a18\u4e8b\u3067\u308f\u304b\u308b\u3053\u3068<\/p>\n<ul style=\"margin:0;padding-left:1.2em;\">\n<li>CLN3\u75c5\u304c\u3069\u306e\u3088\u3046\u306a\u75c5\u6c17\u3067\u3001\u306a\u305c\u8996\u529b\u4f4e\u4e0b\u304b\u3089\u59cb\u307e\u308b\u306e\u304b<\/li>\n<li>\u5e74\u9f62\u3068\u3068\u3082\u306b\u3069\u306e\u3088\u3046\u306b\u75c7\u72b6\u304c\u9032\u884c\u3057\u3066\u3044\u304f\u304b<\/li>\n<li>\u539f\u56e0\u3068\u306a\u308bCLN3\u907a\u4f1d\u5b50\u306e\u50cd\u304d\u3068\u907a\u4f1d\u306e\u3057\u304f\u307f\uff08\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\uff09<\/li>\n<li>\u8a3a\u65ad\u306b\u4f7f\u308f\u308c\u308b\u691c\u67fb\u306e\u7a2e\u985e\u3068\u3001\u78ba\u5b9a\u8a3a\u65ad\u307e\u3067\u306e\u6d41\u308c<\/li>\n<li>\u73fe\u6642\u70b9\u3067\u3067\u304d\u308b\u5bfe\u75c7\u7642\u6cd5\u3068\u3001\u7814\u7a76\u6bb5\u968e\u306e\u6cbb\u7642\u306e\u53ef\u80fd\u6027<\/li>\n<li><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u30fbNIPT\u3067\u3053\u306e\u75c5\u6c17\u304c\u5bfe\u8c61\u306b\u306a\u308b\u304b\u306a\u3089\u306a\u3044\u304b<\/li>\n<\/ul>\n<\/div>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/app\/registration\/\"><\/p>\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u78ba\u304b\u306a\u30c7\u30fc\u30bf\u306b\u57fa\u3065\u3044\u305f\u9078\u629e<br \/>\u5b89\u5fc3\u306e<span>NIPT\u691c\u67fb<\/span><\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p><\/a>\n<\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_CLN3%E7%97%85%EF%BC%88%E8%8B%A5%E5%B9%B4%E5%9E%8B%E3%83%90%E3%83%83%E3%83%86%E3%83%B3%E7%97%85%EF%BC%89%E3%81%A8%E3%81%AF\"><\/span><strong>1. CLN3\u75c5\uff08\u82e5\u5e74\u578b\u30d0\u30c3\u30c6\u30f3\u75c5\uff09\u3068\u306f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>CLN3\u75c5\u306f\u3001\u7b2c16\u67d3\u8272\u4f53\u306b\u3042\u308bCLN3\u907a\u4f1d\u5b50\u306e\u5909\u5316\u306b\u3088\u3063\u3066\u8d77\u3053\u308b\u3001\u5b50\u3069\u3082\u306e\u3053\u308d\u306b\u767a\u75c7\u3059\u308b\u9032\u884c\u6027\u306e\u795e\u7d4c\u5909\u6027\u75be\u60a3\u3067\u3059\u3002<\/strong>\u6b63\u5f0f\u540d\u79f0\u306f\u300c\u795e\u7d4c\u30bb\u30ed\u30a4\u30c9\u30ea\u30dd\u30d5\u30b9\u30c1\u30f3\u75c73\u578b\uff08Neuronal Ceroid Lipofuscinosis type 3\uff09\u300d\u3067\u3001\u300c\u82e5\u5e74\u578b\u795e\u7d4c\u30bb\u30ed\u30a4\u30c9\u30ea\u30dd\u30d5\u30b9\u30c1\u30f3\u75c7\uff08JNCL\uff09\u300d\u300c\u82e5\u5e74\u578b\u30d0\u30c3\u30c6\u30f3\u75c5\u300d\u300cSpielmeyer-Vogt-Sj\u00f6gren\u75c5\u300d\u306a\u3069\u3001\u8907\u6570\u306e\u547c\u3073\u65b9\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8133\u3084\u76ee\u306e\u7d30\u80de\u306b\u3001\u86cd\u5149\u6027\u306e\u8102\u6027\u8272\u7d20\uff08\u30bb\u30ed\u30a4\u30c9\u30ea\u30dd\u30d5\u30b9\u30c1\u30f3\uff09\u304c\u7570\u5e38\u306b\u305f\u307e\u308b\u3053\u3068\u3067\u3001\u795e\u7d4c\u306e\u50cd\u304d\u304c\u5c11\u3057\u305a\u3064\u640d\u306a\u308f\u308c\u3066\u3044\u304f\u306e\u304c\u7279\u5fb4\u3067\u3059\u3002\u767a\u75c7\u3059\u308b\u307e\u3067\u306f\u666e\u901a\u306b\u767a\u9054\u3057\u3066\u3044\u305f\u304a\u5b50\u3055\u3093\u304c\u30014\u301c7\u6b73\u3054\u308d\u306b\u8996\u529b\u304c\u6025\u306b\u4f4e\u4e0b\u3057\u59cb\u3081\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u305d\u306e\u5f8c\u3001\u5b66\u7fd2\u306e\u9045\u308c\u3001\u3053\u3068\u3070\u306e\u9000\u884c\u3001\u3051\u3044\u308c\u3093\u767a\u4f5c\u3001\u904b\u52d5\u6a5f\u80fd\u306e\u4f4e\u4e0b\u304c\u73fe\u308c\u3001\u75c5\u72b6\u306f\u5e74\u5358\u4f4d\u3067\u3086\u3063\u304f\u308a\u9032\u884c\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p class=\"has-text-align-center\"><strong>CLN3<\/strong><\/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\/06\/CLN3-hgtIdeo_genome_asia_d5568_e3ac0-1024x26.png\" alt=\"CLN3\u907a\u4f1d\u5b50\u304c\u4f4d\u7f6e\u3059\u308b\u7b2c16\u67d3\u8272\u4f53\u77ed\u815516p12.1\u306e\u6a21\u5f0f\u56f3\" class=\"wp-image-101560\"\/><\/figure><\/div>\n\n\n<p>CLN3\u907a\u4f1d\u5b50\u306f\u7b2c16\u67d3\u8272\u4f53\u306e\u77ed\u8155\uff0816p12.1\uff09\u306b\u4f4d\u7f6e\u3057\u3001\u304a\u3088\u305d25,000\u5869\u57fa\u5bfe\u304b\u3089\u306a\u308b\u30bf\u30f3\u30d1\u30af\u8cea\u30b3\u30fc\u30c9\u907a\u4f1d\u5b50\u3067\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u304c\u4f5c\u308b\u300c\u30d0\u30c3\u30c6\u30cb\u30f3\uff08battenin\uff09\u300d\u3068\u3044\u3046\u30bf\u30f3\u30d1\u30af\u8cea\u306f\u3001\u7d30\u80de\u5185\u306e\u30ea\u30bd\u30bd\u30fc\u30e0\uff08\u4e0d\u8981\u7269\u3092\u5206\u89e3\u3059\u308b\u5c0f\u3055\u306a\u5668\u5b98\uff09\u306e\u819c\u306b\u5b58\u5728\u3057\u3001\u7d30\u80de\u5185\u306e\u8001\u5ec3\u7269\u51e6\u7406\uff08\u30aa\u30fc\u30c8\u30d5\u30a1\u30b8\u30fc\uff09\u3092\u52a9\u3051\u3066\u3044\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>CLN3\u75c5\u3067\u3088\u304f\u898b\u3089\u308c\u308b\u907a\u4f1d\u5b50\u7570\u5e38\u306f\u300c1.02kb\uff08\u30ad\u30ed\u30d9\u30fc\u30b9\uff09\u6b20\u5931\u5909\u7570\u300d\u3068\u547c\u3070\u308c\u308b\u3082\u306e\u3067\u3001CLN3\u907a\u4f1d\u5b50\u306e7\u756a\u30fb8\u756a\u306e\u30a8\u30af\u30bd\u30f3\uff08\u907a\u4f1d\u5b50\u3092\u69cb\u6210\u3059\u308b\u4e00\u90e8\u5206\uff09\u304c\u6b20\u3051\u3066\u3044\u308b\u72b6\u614b\u3067\u3059\u3002\u5831\u544a\u306b\u3088\u3063\u3066\u5e45\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u4e16\u754c\u306e\u60a3\u8005\u3055\u3093\u306e7\u301c8\u5272\u7a0b\u5ea6\u3067\u3053\u306e\u5909\u7570\u304c\u78ba\u8a8d\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/smith-lemli-opitz-dhcr7-overview\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u30b9\u30df\u30b9\u30fb\u30ec\u30e0\u30ea\u30fb\u30aa\u30d4\u30c3\u30c4\u75c7\u5019\u7fa4\u3010DHCR7\u3011 <\/div>\n          <div class=\"blog-card-excerpt\">\u30b9\u30df\u30b9\u30fb\u30ec\u30e0\u30ea\u30fb\u30aa\u30d4\u30c3\u30c4\u75c7\u5019\u7fa4\uff08SLOS\uff09\u306e\u75c7\u72b6\u30fb\u539f\u56e0\u30fb\u6cbb\u7642\u30fb\u691c\u67fb\u65b9\u6cd5\u3092\u308f\u304b\u308a\u3084\u3059\u304f\u89e3\u8aac\u3002\u4fdd\u8b77\u8005\u5411\u3051\u306e\u5b89\u5fc3\u3067\u304d\u308b\u60c5\u5831\u63d0\u4f9b\uff5c\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E4%B8%BB%E3%81%AA%E7%97%87%E7%8A%B6%EF%BC%9A%E8%A6%96%E5%8A%9B%E4%BD%8E%E4%B8%8B%E3%81%8B%E3%82%89%E3%81%AF%E3%81%98%E3%81%BE%E3%82%8B%E9%80%B2%E8%A1%8C%E6%80%A7%E3%81%AE%E7%B5%8C%E9%81%8E\"><\/span><strong>2. \u4e3b\u306a\u75c7\u72b6\uff1a\u8996\u529b\u4f4e\u4e0b\u304b\u3089\u306f\u3058\u307e\u308b\u9032\u884c\u6027\u306e\u7d4c\u904e<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>CLN3\u75c5\u306e\u75c7\u72b6\u306f\u3001\u8996\u529b\u30fb\u5b66\u7fd2\u30fb\u904b\u52d5\u30fb\u884c\u52d5\u306e4\u3064\u306e\u9818\u57df\u306b\u73fe\u308c\u3001\u5e74\u9f62\u3092\u8ffd\u3046\u3054\u3068\u306b\u6bb5\u968e\u7684\u306b\u9032\u884c\u3057\u3066\u3044\u304d\u307e\u3059\u3002<\/strong>\u9032\u307f\u65b9\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308a\u3001\u540c\u3058\u5909\u7570\u3092\u6301\u3064\u304a\u5b50\u3055\u3093\u306e\u9593\u3067\u3082\u75c7\u72b6\u306e\u91cd\u3055\u306f\u4e00\u69d8\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%88%9D%E6%9C%9F%E7%97%87%E7%8A%B6%EF%BC%884%E3%80%9C8%E6%AD%B3%E3%81%94%E3%82%8D%EF%BC%89\"><\/span>\u521d\u671f\u75c7\u72b6\uff084\u301c8\u6b73\u3054\u308d\uff09<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6700\u521d\u306b\u6c17\u3065\u304b\u308c\u308b\u306e\u306f\u3001\u591a\u304f\u306e\u5834\u5408\u3001\u8996\u529b\u306e\u5909\u5316\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u8996\u529b\u4f4e\u4e0b\uff1a\u6700\u3082\u65e9\u304f\u898b\u3089\u308c\u308b\u75c7\u72b6\u3067\u3059\u3002\u7db2\u819c\u304c\u5909\u6027\u3057\u3001\u6025\u6fc0\u306b\u8996\u529b\u304c\u843d\u3061\u307e\u3059\u300210\u6b73\u3054\u308d\u307e\u3067\u306b\u6cd5\u7684\u5931\u660e\uff08\u77ef\u6b63\u8996\u529b\u304c\u4e00\u5b9a\u57fa\u6e96\u3092\u4e0b\u56de\u308b\u72b6\u614b\uff09\u306b\u306a\u308b\u304a\u5b50\u3055\u3093\u304c\u591a\u304f\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5b66\u7fd2\u306e\u56f0\u96e3\u30fb\u8a00\u8449\u306e\u9000\u884c\uff1a\u65b0\u3057\u3044\u3053\u3068\u3092\u899a\u3048\u308b\u306e\u304c\u96e3\u3057\u304f\u306a\u308a\u3001\u8a71\u305b\u3066\u3044\u305f\u8a00\u8449\u3092\u5fd8\u308c\u3066\u3057\u307e\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u7761\u7720\u969c\u5bb3\uff1a\u591c\u4e2d\u306b\u4f55\u5ea6\u3082\u8d77\u304d\u3066\u3057\u307e\u3063\u305f\u308a\u3001\u5bdd\u3064\u304d\u306b\u304f\u304b\u3063\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u8996\u529b\u4f4e\u4e0b\u3060\u3051\u304c\u5148\u884c\u3059\u308b\u6642\u671f\u306f\u3001\u773c\u79d1\u3092\u5148\u306b\u53d7\u8a3a\u3059\u308b\u3054\u5bb6\u65cf\u3082\u5c11\u306a\u304f\u3042\u308a\u307e\u305b\u3093\u3002\u79c1\u305f\u3061\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u306e\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u3082\u300c\u8996\u529b\u304c\u6025\u306b\u843d\u3061\u305f\u3068\u8a00\u308f\u308c\u3066\u773c\u79d1\u306b\u901a\u3063\u305f\u304c\u3001\u539f\u56e0\u304c\u306a\u304b\u306a\u304b\u5206\u304b\u3089\u306a\u304b\u3063\u305f\u300d\u3068\u3044\u3046\u304a\u8a71\u3092\u4f3a\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%B8%AD%E6%9C%9F%E4%BB%A5%E9%99%8D%EF%BC%8810%E3%80%9C20%E6%AD%B3%E3%81%94%E3%82%8D%EF%BC%89\"><\/span>\u4e2d\u671f\u4ee5\u964d\uff0810\u301c20\u6b73\u3054\u308d\uff09<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u3051\u3044\u308c\u3093\u767a\u4f5c\uff08\u3066\u3093\u304b\u3093\uff09<\/li>\n\n\n\n<li>\u904b\u52d5\u969c\u5bb3\uff1a\u624b\u8db3\u304c\u3053\u308f\u3070\u3063\u305f\u308a\u3001\u52d5\u304d\u304c\u9045\u304f\u306a\u3063\u305f\u308a\u3001\u30d0\u30e9\u30f3\u30b9\u3092\u3068\u308b\u306e\u304c\u96e3\u3057\u304f\u306a\u3063\u305f\u308a\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8a00\u8a9e\u969c\u5bb3\uff1a\u8a00\u8449\u304c\u4e0d\u660e\u77ad\u306b\u306a\u308b\uff08\u69cb\u97f3\u969c\u5bb3\uff09\u3001\u8a00\u3044\u3088\u3069\u3080\uff08\u795e\u7d4c\u6027\u5403\u97f3\uff09\u306a\u3069\u3002<\/li>\n\n\n\n<li>\u7cbe\u795e\u75c7\u72b6\uff1a\u4e00\u90e8\u306e\u65b9\u3067\u3001\u5e7b\u899a\u3084\u5984\u60f3\u306a\u3069\u306e\u75c7\u72b6\u304c\u73fe\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5fc3\u81d3\u306e\u30ea\u30ba\u30e0\u7570\u5e38\uff08\u4e0d\u6574\u8108\uff09\uff1a\u6210\u4eba\u671f\u306b\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6442\u98df\u30fb\u56a5\u4e0b\u56f0\u96e3\uff1a\u9032\u884c\u3059\u308b\u3068\u98f2\u307f\u8fbc\u307f\u304c\u96e3\u3057\u304f\u306a\u308a\u3001\u7d4c\u7ba1\u6804\u990a\u304c\u691c\u8a0e\u3055\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<figure class=\"wp-block-table\"><figcaption class=\"wp-element-caption\">\u5e74\u9f62\u5e2f\u3054\u3068\u306b\u73fe\u308c\u3084\u3059\u3044\u4e3b\u306a\u75c7\u72b6\u306e\u76ee\u5b89<\/figcaption><table class=\"has-fixed-layout\"><tbody><tr><td><strong>\u5e74\u9f62\u5e2f<\/strong><\/td><td><strong>\u73fe\u308c\u3084\u3059\u3044\u75c7\u72b6<\/strong><\/td><\/tr><tr><td>4\u301c8\u6b73\u3054\u308d<\/td><td>\u8996\u529b\u4f4e\u4e0b\u3001\u5b66\u7fd2\u306e\u56f0\u96e3\u3001\u8a00\u8449\u306e\u9000\u884c\u3001\u7761\u7720\u969c\u5bb3<\/td><\/tr><tr><td>10\u6b73\u524d\u5f8c<\/td><td>\u6cd5\u7684\u5931\u660e\u306b\u81f3\u308b\u3053\u3068\u304c\u591a\u3044\u6642\u671f<\/td><\/tr><tr><td>10\u301c20\u6b73\u3054\u308d<\/td><td>\u3051\u3044\u308c\u3093\u767a\u4f5c\u3001\u904b\u52d5\u969c\u5bb3\u3001\u8a00\u8a9e\u969c\u5bb3\u3001\u7cbe\u795e\u75c7\u72b6\u3001\u56a5\u4e0b\u56f0\u96e3<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n    <a href=\"\/nipt\/mcadd-medium-chain-acyl-coa-dehydrogenase-deficiency\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u4e2d\u9396\u30a2\u30b7\u30ebCoA\u30c7\u30d2\u30c9\u30ed\u30b2\u30ca\u30fc\u30bc\u6b20\u640d\u75c7\u3010ACADM\u3011 <\/div>\n          <div class=\"blog-card-excerpt\">\u4e3b\u306b\u4e73\u5e7c\u5150\u671f\u306b\u767a\u75c7\u3059\u308b\u4e2d\u9396\u30a2\u30b7\u30ebCoA\u30c7\u30d2\u30c9\u30ed\u30b2\u30ca\u30fc\u30bc\u6b20\u640d\u75c7\uff08MCADD\uff09\u306b\u3064\u3044\u3066\u3001\u75c7\u72b6\u30fb\u539f\u56e0\u30fb\u6cbb\u7642\u6cd5\u306a\u3069\u3092\u3084\u3055\u3057\u304f\u89e3\u8aac\uff5c\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E5%8E%9F%E5%9B%A0%EF%BC%9ACLN3%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%A8%E3%83%A9%E3%82%A4%E3%82%BD%E3%82%BE%E3%83%BC%E3%83%A0%E3%81%AE%E3%81%AF%E3%81%9F%E3%82%89%E3%81%8D\"><\/span><strong>3. \u539f\u56e0\uff1aCLN3\u907a\u4f1d\u5b50\u3068\u30e9\u30a4\u30bd\u30be\u30fc\u30e0\u306e\u306f\u305f\u3089\u304d<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>CLN3\u75c5\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autosomal-recessive-genetics-support\/\">\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d<\/a>\uff08\u304a\u7236\u3055\u3093\u3068\u304a\u6bcd\u3055\u3093\u306e\u4e21\u65b9\u304b\u3089\u5909\u5316\u3057\u305f\u907a\u4f1d\u5b50\u3092\u53d7\u3051\u7d99\u3044\u3060\u3068\u304d\u306b\u767a\u75c7\u3059\u308b\u907a\u4f1d\u5f62\u5f0f\uff09\u306b\u3088\u3063\u3066\u907a\u4f1d\u3057\u307e\u3059\u3002<\/strong>\u3069\u3061\u3089\u304b\u4e00\u65b9\u306e\u89aa\u3060\u3051\u304c\u5909\u5316\u3092\u6301\u3063\u3066\u3044\u3066\u3082\u3001\u901a\u5e38\u306f\u767a\u75c7\u3057\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>CLN3\u907a\u4f1d\u5b50\u306f\u3001\u7d30\u80de\u5185\u306e\u4e0d\u8981\u7269\u51e6\u7406\u30b7\u30b9\u30c6\u30e0\u3067\u3042\u308b\u30ea\u30bd\u30bd\u30fc\u30e0\u3067\u91cd\u8981\u306a\u5f79\u5272\u3092\u62c5\u3063\u3066\u3044\u307e\u3059\u3002\u75c5\u6c17\u306b\u306a\u308b\u3068\u3053\u306e\u50cd\u304d\u304c\u3046\u307e\u304f\u3044\u304b\u306a\u304f\u306a\u308a\u3001\u30bb\u30ed\u30a4\u30c9\u3084\u30ea\u30dd\u30d5\u30b9\u30c1\u30f3\u3068\u3044\u3046\u8001\u5ec3\u7269\u304c\u795e\u7d4c\u7d30\u80de\u306a\u3069\u306b\u84c4\u7a4d\u3057\u3001\u5c11\u3057\u305a\u3064\u7d30\u80de\u6b7b\u304c\u9032\u3093\u3067\u3044\u304d\u307e\u3059\u3002\u3053\u306e\u84c4\u7a4d\u304c\u9032\u3080\u306b\u3064\u308c\u3066\u3001\u8996\u899a\u30fb\u904b\u52d5\u30fb\u8a8d\u77e5\u30fb\u884c\u52d5\u3068\u3044\u3063\u305f\u795e\u7d4c\u6a5f\u80fd\u304c\u6bb5\u968e\u7684\u306b\u640d\u306a\u308f\u308c\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3054\u4e21\u89aa\u304c\u5065\u5eb7\u3067\u3042\u3063\u3066\u3082\u3001\u304a\u5b50\u3055\u3093\u306b\u75c5\u6c17\u304c\u73fe\u308c\u308b\u3053\u3068\u304c\u3042\u308b\u306e\u304c\u3053\u306e\u907a\u4f1d\u5f62\u5f0f\u306e\u7279\u5fb4\u3067\u3059\u3002\u300c\u598a\u5a20\u4e2d\u306b\u4f55\u304b\u60aa\u3044\u3053\u3068\u3092\u3057\u305f\u306e\u3067\u306f\u306a\u3044\u304b\u300d\u3068\u3054\u81ea\u8eab\u3092\u8cac\u3081\u308b\u3054\u5bb6\u65cf\u3082\u5c11\u306a\u304f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u305d\u308c\u306f\u533b\u5b66\u7684\u306b\u306f\u5426\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\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>CLN3\u75c5\u306e\u8a3a\u65ad\u306f\u3001\u8840\u6db2\u691c\u67fb\u30fb\u773c\u79d1\u7684\u691c\u67fb\u30fb\u907a\u4f1d\u5b50\u691c\u67fb\u3092\u7d44\u307f\u5408\u308f\u305b\u3066\u7dcf\u5408\u7684\u306b\u9032\u3081\u3089\u308c\u307e\u3059\u3002<\/strong>\u65e9\u671f\u767a\u898b\u306f\u3001\u305d\u306e\u5f8c\u306e\u751f\u6d3b\u8a2d\u8a08\u3084\u591a\u8077\u7a2e\u306b\u3088\u308b\u30b5\u30dd\u30fc\u30c8\u4f53\u5236\u3065\u304f\u308a\u306e\u305f\u3081\u306b\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u672b\u68a2\u8840\u5857\u62b9\u691c\u67fb\uff08\u8840\u6db2\u3092\u9855\u5fae\u93e1\u3067\u898b\u308b\u691c\u67fb\uff09<br>\u2192 \u7a7a\u80de\u5316\u30ea\u30f3\u30d1\u7403\uff08\u5185\u90e8\u306b\u7a7a\u6d1e\u304c\u898b\u3048\u308b\u767d\u8840\u7403\uff09\u304c\u78ba\u8a8d\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u3001CLN3\u75c5\u3092\u7591\u3046\u624b\u304c\u304b\u308a\u306e\u3072\u3068\u3064\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u7db2\u819c\u96fb\u56f3\u691c\u67fb\uff08ERG\uff09<br>\u2192 \u7db2\u819c\u306e\u5149\u306b\u5bfe\u3059\u308b\u53cd\u5fdc\u3092\u898b\u308b\u691c\u67fb\u3067\u3001CLN3\u75c5\u3067\u306f\u7279\u5fb4\u7684\u306a\u6ce2\u5f62\u306e\u5909\u5316\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5149\u5e72\u6e09\u65ad\u5c64\u8a08\uff08OCT\uff09<br>\u2192 \u7db2\u819c\u306e\u69cb\u9020\u3092\u8a73\u3057\u304f\u89b3\u5bdf\u3059\u308b\u691c\u67fb\u3067\u3059\u3002CLN3\u75c5\u3067\u306f\u7db2\u819c\u4e2d\u5fc3\u90e8\u306e\u5c64\u69cb\u9020\u306e\u5d29\u308c\u3084\u8584\u5316\u304c\u78ba\u8a8d\u3055\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u907a\u4f1d\u5b50\u691c\u67fb<br>\u2192 CLN3\u907a\u4f1d\u5b50\u306e1.02kb\u6b20\u5931\u306e\u6709\u7121\u3092\u8abf\u3079\u308b\u3053\u3068\u3067\u78ba\u5b9a\u8a3a\u65ad\u304c\u53ef\u80fd\u3067\u3059\u3002\u305d\u308c\u4ee5\u5916\u306e\u5909\u7570\u304c\u7591\u308f\u308c\u308b\u5834\u5408\u306f\u3001\u3088\u308a\u5e83\u3044\u7bc4\u56f2\u3092\u8abf\u3079\u308b\u907a\u4f1d\u5b50\u89e3\u6790\u304c\u691c\u8a0e\u3055\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u96fb\u5b50\u9855\u5fae\u93e1\u691c\u67fb<br>\u2192 \u6c57\u817a\u3084\u7d50\u819c\u306a\u3069\u306e\u7d44\u7e54\u3092\u7528\u3044\u3001\u300c\u6307\u7d0b\u72b6\u306e\u30ea\u30bd\u30bd\u30fc\u30e0\u5185\u5c01\u5165\u4f53\uff08fingerprint inclusion\uff09\u300d\u3068\u547c\u3070\u308c\u308b\u7279\u5fb4\u7684\u306a\u6a21\u69d8\u304c\u78ba\u8a8d\u3055\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8133\u6ce2\uff08EEG\uff09\u30fbMRI\u691c\u67fb<br>\u2192 \u3066\u3093\u304b\u3093\u6ce2\u5f62\u3084\u8133\u306e\u840e\u7e2e\u306a\u3069\u3001\u795e\u7d4c\u75c7\u72b6\u306e\u8a55\u4fa1\u306b\u5f79\u7acb\u3061\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u9069\u5fdc\u884c\u52d5\u8a55\u4fa1\uff08Vineland-3\uff09\u3084Batten\u75c5\u8a55\u4fa1\u30b9\u30b1\u30fc\u30eb\uff08UBDRS\uff09\u3068\u3044\u3063\u305f\u8a55\u4fa1\u5c3a\u5ea6\u3092\u4f7f\u3044\u3001\u65e5\u5e38\u751f\u6d3b\u80fd\u529b\u3084\u8a8d\u77e5\u6a5f\u80fd\u306e\u5909\u5316\u3092\u5b9a\u671f\u7684\u306b\u6e2c\u5b9a\u3059\u308b\u3053\u3068\u3067\u3001\u75c5\u6c17\u306e\u9032\u884c\u5ea6\u3092\u628a\u63e1\u3057\u3066\u3044\u304d\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%E6%B3%95%E3%81%A8%E7%AE%A1%E7%90%86%EF%BC%9A%E7%8F%BE%E5%9C%A8%E3%81%AE%E5%AF%BE%E7%97%87%E7%99%82%E6%B3%95%E3%81%A8%E5%B0%86%E6%9D%A5%E3%81%AE%E5%8F%AF%E8%83%BD%E6%80%A7\"><\/span><strong>5. \u6cbb\u7642\u6cd5\u3068\u7ba1\u7406\uff1a\u73fe\u5728\u306e\u5bfe\u75c7\u7642\u6cd5\u3068\u5c06\u6765\u306e\u53ef\u80fd\u6027<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u73fe\u5728\u306e\u3068\u3053\u308d\u3001CLN3\u75c5\u305d\u306e\u3082\u306e\u3092\u6cbb\u3059\u6839\u672c\u6cbb\u7642\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u304c\u3001\u75c7\u72b6\u3054\u3068\u306e\u5bfe\u75c7\u7642\u6cd5\u3068\u591a\u8077\u7a2e\u306b\u3088\u308b\u652f\u63f4\u3067\u3001\u751f\u6d3b\u306e\u8cea\u3092\u4fdd\u3064\u5de5\u592b\u304c\u7a4d\u307f\u91cd\u306d\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/strong><\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%AF%BE%E7%97%87%E7%99%82%E6%B3%95%E3%81%A8%E3%82%B1%E3%82%A2\"><\/span>\u5bfe\u75c7\u7642\u6cd5\u3068\u30b1\u30a2<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u3066\u3093\u304b\u3093\u767a\u4f5c\u306e\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\uff1a\u30ec\u30d9\u30c1\u30e9\u30bb\u30bf\u30e0\u3001\u30d0\u30eb\u30d7\u30ed\u9178\u306a\u3069\u306e\u6297\u3066\u3093\u304b\u3093\u85ac<\/li>\n\n\n\n<li>\u904b\u52d5\u969c\u5bb3\u306e\u7ba1\u7406\uff1a\u30d0\u30af\u30ed\u30d5\u30a7\u30f3\u3001\u30dc\u30c4\u30ea\u30cc\u30b9\u6bd2\u7d20\u6cbb\u7642\u3001\u7406\u5b66\u7642\u6cd5<\/li>\n\n\n\n<li>\u8a00\u8a9e\u30fb\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u652f\u63f4\uff1a\u8a00\u8a9e\u7642\u6cd5\u3001\u88dc\u52a9\u4ee3\u66ff\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\uff08AAC\uff09\u6a5f\u5668\u306e\u5c0e\u5165<\/li>\n\n\n\n<li>\u6804\u990a\u7ba1\u7406\uff1a\u56a5\u4e0b\u56f0\u96e3\u306b\u5bfe\u3059\u308b\u7d4c\u7ba1\u6804\u990a\u306e\u691c\u8a0e<\/li>\n\n\n\n<li>\u7cbe\u795e\u30fb\u884c\u52d5\u652f\u63f4\uff1a\u4e0d\u5b89\u3001\u5f37\u8feb\u75c7\u72b6\u3001\u6c17\u5206\u306e\u843d\u3061\u8fbc\u307f\u3078\u306e\u30b1\u30a2<\/li>\n\n\n\n<li>\u591a\u8077\u7a2e\u9023\u643a\uff1a\u5c0f\u5150\u795e\u7d4c\u79d1\u3001\u773c\u79d1\u3001\u30ea\u30cf\u30d3\u30ea\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u3001\u5fc3\u7406\u58eb\u3001\u7de9\u548c\u30b1\u30a2\u30c1\u30fc\u30e0\u306a\u3069\u306e\u5354\u529b\u4f53\u5236<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%A0%94%E7%A9%B6%E6%AE%B5%E9%9A%8E%E3%81%AB%E3%81%82%E3%82%8B%E6%B2%BB%E7%99%82%E6%B3%95\"><\/span>\u7814\u7a76\u6bb5\u968e\u306b\u3042\u308b\u6cbb\u7642\u6cd5<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u30a6\u30a4\u30eb\u30b9\u30d9\u30af\u30bf\u30fc\u3092\u7528\u3044\u305f\u907a\u4f1d\u5b50\u6cbb\u7642\u3084\u3001\u5206\u5b50\u6a19\u7684\u85ac\u30fb\u30a2\u30f3\u30c1\u30bb\u30f3\u30b9\u6cbb\u7642\u306a\u3069\u304c\u7814\u7a76\u30fb\u81e8\u5e8a\u8a66\u9a13\u306e\u6bb5\u968e\u306b\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u3089\u306f\u307e\u3060\u6a19\u6e96\u6cbb\u7642\u3068\u3057\u3066\u78ba\u7acb\u3055\u308c\u305f\u3082\u306e\u3067\u306f\u306a\u304f\u3001\u5bfe\u8c61\u3068\u306a\u308b\u6761\u4ef6\u3084\u5b9f\u65bd\u65bd\u8a2d\u3082\u9650\u3089\u308c\u308b\u305f\u3081\u3001\u62c5\u5f53\u533b\u3084\u81e8\u5e8a\u8a66\u9a13\u306e\u5b9f\u65bd\u6a5f\u95a2\u306b\u76f4\u63a5\u78ba\u8a8d\u3059\u308b\u3053\u3068\u304c\u6b20\u304b\u305b\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u306a\u304a\u3001\u540c\u3058\u795e\u7d4c\u30bb\u30ed\u30a4\u30c9\u30ea\u30dd\u30d5\u30b9\u30c1\u30f3\u75c7\u306e\u30b0\u30eb\u30fc\u30d7\u3067\u3082\u3001CLN2\uff08TPP1\u95a2\u9023\uff09\u3067\u306f\u8133\u5ba4\u5185\u9175\u7d20\u88dc\u5145\u7642\u6cd5\u304c\u627f\u8a8d\u3055\u308c\u3066\u3044\u308b\u306a\u3069\u3001\u75c5\u578b\u306b\u3088\u3063\u3066\u6cbb\u7642\u306e\u9078\u629e\u80a2\u306f\u7570\u306a\u308a\u307e\u3059\u3002CLN3\u75c5\u3078\u306e\u9175\u7d20\u88dc\u5145\u7642\u6cd5\u3067\u306f\u306a\u3044\u305f\u3081\u3001\u6df7\u540c\u3057\u306a\u3044\u3088\u3046\u3054\u6ce8\u610f\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"6_%E4%BA%88%E5%BE%8C%EF%BC%9A%E7%B5%8C%E9%81%8E%E3%81%AE%E8%A6%8B%E9%80%9A%E3%81%97%E3%81%A8%E5%80%8B%E4%BA%BA%E5%B7%AE\"><\/span><strong>6. \u4e88\u5f8c\uff1a\u7d4c\u904e\u306e\u898b\u901a\u3057\u3068\u500b\u4eba\u5dee<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>CLN3\u75c5\u306f\u6642\u9593\u3092\u304b\u3051\u3066\u3086\u3063\u304f\u308a\u9032\u884c\u3059\u308b\u795e\u7d4c\u5909\u6027\u75be\u60a3\u3067\u3001\u7d4c\u904e\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u591a\u304f\u306e\u5834\u5408\u306f\u6b21\u306e\u3088\u3046\u306a\u7d4c\u904e\u3092\u305f\u3069\u308b\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>10\u6b73\u524d\u5f8c\u3067\u5b8c\u5168\u5931\u660e\u306b\u81f3\u308b\u3053\u3068\u304c\u591a\u3044<\/li>\n\n\n\n<li>10\u4ee3\u5f8c\u534a\u301c20\u4ee3\u3067\u79fb\u52d5\u3084\u4f1a\u8a71\u304c\u96e3\u3057\u304f\u306a\u308a\u3001\u8eca\u3044\u3059\u3067\u306e\u751f\u6d3b\u304c\u4e2d\u5fc3\u306b\u306a\u308b<\/li>\n\n\n\n<li>20\u301c30\u4ee3\u3067\u4ea1\u304f\u306a\u308b\u65b9\u304c\u591a\u3044\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u500b\u4eba\u5dee\u304c\u5927\u304d\u304f\u3001\u652f\u63f4\u4f53\u5236\u306b\u3088\u3063\u3066\u3082\u7d4c\u904e\u306f\u5909\u308f\u308a\u307e\u3059<\/li>\n<\/ul>\n\n\n\n<p>\u3054\u304f\u307e\u308c\u306b\u3001\u8996\u899a\u969c\u5bb3\u306e\u307f\u3067\u795e\u7d4c\u75c7\u72b6\u3092\u4f34\u308f\u306a\u3044\u300c\u8efd\u75c7\u578b\uff08protracted\u578b\uff09CLN3\u75c5\u300d\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u5834\u5408\u306f\u9032\u884c\u304c\u7de9\u3084\u304b\u3067\u300130\u4ee3\u4ee5\u964d\u307e\u3067\u5b89\u5b9a\u3057\u305f\u751f\u6d3b\u3092\u9001\u308c\u308b\u30b1\u30fc\u30b9\u3082\u3042\u308a\u307e\u3059\u3002\u6570\u5024\u3084\u7d4c\u904e\u306f\u3042\u304f\u307e\u3067\u5831\u544a\u4f8b\u306b\u3082\u3068\u3065\u304f\u76ee\u5b89\u3067\u3042\u308a\u3001\u5b9f\u969b\u306e\u898b\u901a\u3057\u306f\u304a\u5b50\u3055\u3093\u3054\u3068\u306e\u75c7\u72b6\u3084\u5408\u4f75\u75c7\u306e\u6709\u7121\u306b\u3088\u3063\u3066\u7570\u306a\u308b\u305f\u3081\u3001\u62c5\u5f53\u533b\u3068\u7d99\u7d9a\u7684\u306b\u76f8\u8ac7\u3057\u306a\u304c\u3089\u628a\u63e1\u3057\u3066\u3044\u304f\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"7_%E6%97%A5%E5%B8%B8%E7%94%9F%E6%B4%BB%E3%81%AE%E5%B7%A5%E5%A4%AB%E3%81%A8%E3%81%94%E5%AE%B6%E6%97%8F%E3%81%B8%E3%81%AE%E3%82%B5%E3%83%9D%E3%83%BC%E3%83%88\"><\/span><strong>7. \u65e5\u5e38\u751f\u6d3b\u306e\u5de5\u592b\u3068\u3054\u5bb6\u65cf\u3078\u306e\u30b5\u30dd\u30fc\u30c8<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u9032\u884c\u6027\u306e\u75c5\u6c17\u3060\u304b\u3089\u3053\u305d\u3001\u8996\u529b\u30fb\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u30fb\u751f\u6d3b\u74b0\u5883\u3092\u6bb5\u968e\u306b\u5408\u308f\u305b\u3066\u8abf\u6574\u3057\u3066\u3044\u304f\u3053\u3068\u304c\u3001\u304a\u5b50\u3055\u3093\u3068\u3054\u5bb6\u65cf\u306e\u8ca0\u62c5\u3092\u6e1b\u3089\u3059\u9375\u306b\u306a\u308a\u307e\u3059\u3002<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u8996\u529b\u4f4e\u4e0b\u3078\u306e\u5099\u3048\uff1a\u65e9\u3044\u6bb5\u968e\u304b\u3089\u8996\u899a\u652f\u63f4\u6559\u80b2\uff08\u70b9\u5b57\u30fb\u97f3\u58f0\u6559\u6750\u306a\u3069\uff09\u3092\u53d6\u308a\u5165\u308c\u3066\u304a\u304f\u3068\u3001\u9032\u884c\u5f8c\u306e\u5b66\u7fd2\u306e\u7d99\u7d9a\u304c\u3057\u3084\u3059\u304f\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u624b\u6bb5\u306e\u78ba\u4fdd\uff1a\u8a00\u8449\u3067\u306e\u610f\u601d\u758e\u901a\u304c\u96e3\u3057\u304f\u306a\u308b\u524d\u304b\u3089\u3001AAC\u6a5f\u5668\u3084\u7d75\u30ab\u30fc\u30c9\u306a\u3069\u8907\u6570\u306e\u624b\u6bb5\u3092\u8a66\u3057\u3066\u304a\u304f\u3068\u5b89\u5fc3\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u5b66\u6821\u30fb\u5712\u751f\u6d3b\u306e\u8abf\u6574\uff1a\u7279\u5225\u652f\u63f4\u6559\u80b2\u30b3\u30fc\u30c7\u30a3\u30cd\u30fc\u30bf\u30fc\u3084\u533b\u7642\u7684\u30b1\u30a2\u306e\u62c5\u5f53\u8005\u3068\u65e9\u3081\u306b\u9023\u643a\u3057\u3001\u9032\u884c\u306b\u5fdc\u3058\u3066\u74b0\u5883\u3092\u898b\u76f4\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u52a0\u3048\u3066\u3001\u3054\u5bb6\u65cf\u81ea\u8eab\u306e\u4f11\u606f\uff08\u30ec\u30b9\u30d1\u30a4\u30c8\u30b1\u30a2\uff09\u3082\u5fd8\u308c\u3066\u306f\u3044\u3051\u307e\u305b\u3093\u3002\u9032\u884c\u6027\u306e\u75c5\u6c17\u306e\u4ecb\u8b77\u306f\u9577\u671f\u6226\u306b\u306a\u308a\u3084\u3059\u304f\u3001\u533b\u7642\u7684\u30b1\u30a2\u5150\u652f\u63f4\u30bb\u30f3\u30bf\u30fc\u3084\u5730\u57df\u306e\u76f8\u8ac7\u7a93\u53e3\u3092\u65e9\u3081\u306b\u628a\u63e1\u3057\u3066\u304a\u304f\u3053\u3068\u304c\u3001\u7d50\u679c\u3068\u3057\u3066\u304a\u5b50\u3055\u3093\u3078\u306e\u30b1\u30a2\u306e\u8cea\u3092\u4fdd\u3064\u3053\u3068\u306b\u3064\u306a\u304c\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>CLN3\u75c5\u306f\u5c0f\u5150\u6162\u6027\u7279\u5b9a\u75be\u75c5\u3068\u3057\u3066\u533b\u7642\u8cbb\u52a9\u6210\u306e\u5bfe\u8c61\u306b\u306a\u308a\u5f97\u307e\u3059\u3002\u5bfe\u8c61\u7bc4\u56f2\u3084\u624b\u7d9a\u304d\u306f\u81ea\u6cbb\u4f53\u306b\u3088\u3063\u3066\u7570\u306a\u308b\u305f\u3081\u3001\u8a73\u3057\u3044\u8981\u4ef6\u306f\u5c0f\u5150\u6162\u6027\u7279\u5b9a\u75be\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc\u3084\u81ea\u6cbb\u4f53\u306e\u7a93\u53e3\u3067\u78ba\u8a8d\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<div class=\"wp-block-buttons is-content-justification-center is-layout-flex wp-container-core-buttons-is-layout-16018d1d wp-block-buttons-is-layout-flex\">\n<div class=\"wp-block-button\"><a class=\"wp-block-button__link wp-element-button\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/line-registration\/\" target=\"_blank\" rel=\"noopener\">LINE\u3067\u7121\u6599\u76f8\u8ac7\u3059\u308b<\/a><\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"8_%E5%87%BA%E7%94%9F%E5%89%8D%E8%A8%BA%E6%96%AD%E3%83%BBNIPT%E3%81%A8CLN3%E7%97%85%E3%81%AE%E9%96%A2%E4%BF%82\"><\/span><strong>8. \u51fa\u751f\u524d\u8a3a\u65ad\u30fbNIPT\u3068CLN3\u75c5\u306e\u95a2\u4fc2<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u7d50\u8ad6\u304b\u3089\u304a\u4f1d\u3048\u3059\u308b\u3068\u3001CLN3\u75c5\u306f\u57fa\u672c\u7684\u306aNIPT\uff08\u65b0\u578b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\uff09\u304c\u5bfe\u8c61\u3068\u3059\u308b\u7bc4\u56f2\u306b\u306f\u542b\u307e\u308c\u3066\u3044\u307e\u305b\u3093\u3002<\/strong>\u300cNIPT\u3092\u53d7\u3051\u3066\u3044\u305f\u306e\u306b\u3001\u306a\u305c\u5206\u304b\u3089\u306a\u304b\u3063\u305f\u306e\u304b\u300d\u3068\u3044\u3046\u3054\u8cea\u554f\u3092\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u73fe\u5834\u3067\u3044\u305f\u3060\u304f\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u3053\u308c\u306fNIPT\u306e\u691c\u67fb\u5bfe\u8c61\u306e\u9055\u3044\u306b\u3088\u308b\u3082\u306e\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u57fa\u672c\u7684\u306aNIPT\u306f\u300121\u30c8\u30ea\u30bd\u30df\u30fc\uff08<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/testing\/\"><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/testing\/\">\u30c0\u30a6\u30f3\u75c7<\/a>\u5019\u7fa4<\/a>\uff09\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/edwards-syndrome\/\">18\u30c8\u30ea\u30bd\u30df\u30fc<\/a>\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/patau-syndrome\/\">13\u30c8\u30ea\u30bd\u30df\u30fc<\/a>\u3068\u3044\u3063\u305f\u3001\u67d3\u8272\u4f53\u306e\u6570\u306e\u7570\u5e38\u3092\u8abf\u3079\u308b\u691c\u67fb\u3067\u3059\u3002CLN3\u75c5\u306fCLN3\u3068\u3044\u30461\u3064\u306e\u907a\u4f1d\u5b50\u306e\u5909\u5316\u306b\u3088\u3063\u3066\u8d77\u3053\u308b\u300c\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u300d\u3067\u3042\u308a\u3001\u67d3\u8272\u4f53\u306e\u6570\u305d\u306e\u3082\u306e\u306b\u306f\u7570\u5e38\u304c\u3042\u308a\u307e\u305b\u3093\u3002\u305d\u306e\u305f\u3081\u3001\u67d3\u8272\u4f53\u306e\u672c\u6570\u3092\u8abf\u3079\u308b\u57fa\u672c\u7684\u306aNIPT\u3067\u306f\u3001\u539f\u7406\u4e0a\u3068\u3089\u3048\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u8fd1\u5e74\u306f\u3001\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u3084\u30ad\u30e3\u30ea\u30a2\uff08\u4fdd\u56e0\u8005\uff09\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u307e\u3067\u5bfe\u8c61\u7bc4\u56f2\u3092\u5e83\u3052\u305f\u691c\u67fb\u30d7\u30e9\u30f3\u3082\u767b\u5834\u3057\u3066\u3044\u307e\u3059\u304c\u3001\u5bfe\u8c61\u75be\u60a3\u306f\u691c\u67fb\u4f1a\u793e\u3084\u30d7\u30e9\u30f3\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u307e\u3059\u3002CLN3\u75c5\u306e\u3088\u3046\u306b\u5831\u544a\u6570\u306e\u5c11\u306a\u3044\u5e0c\u5c11\u75be\u60a3\u304c\u500b\u5225\u306b\u5bfe\u8c61\u3078\u542b\u307e\u308c\u3066\u3044\u308b\u304b\u3069\u3046\u304b\u306f\u3001\u691c\u67fb\u524d\u306e\u8aac\u660e\u8cc7\u6599\u3084\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u5fc5\u305a\u78ba\u8a8d\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<p>\u3054\u5bb6\u65cf\u306bCLN3\u75c5\u306e\u65b9\u304c\u3044\u308b\u5834\u5408\u3084\u3001\u3054\u4e21\u89aa\u304c\u3068\u3082\u306b\u4fdd\u56e0\u8005\u3067\u3042\u308b\u3053\u3068\u304c\u5224\u660e\u3057\u3066\u3044\u308b\u5834\u5408\u306f\u3001\u6b21\u306e\u304a\u5b50\u3055\u3093\u306b\u3064\u3044\u3066\u51fa\u751f\u524d\u306b\u8abf\u3079\u308b\u65b9\u6cd5\u3068\u3057\u3066\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chorionic-villus-test\/\">\u7d68\u6bdb\u691c\u67fb<\/a>\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u3067CLN3\u907a\u4f1d\u5b50\u3092\u76f4\u63a5\u8abf\u3079\u308b\u78ba\u5b9a\u7684\u691c\u67fb\u3092\u9078\u629e\u80a2\u306b\u5165\u308c\u308b\u3053\u3068\u3082\u53ef\u80fd\u3067\u3059\u3002\u3044\u305a\u308c\u306e\u5834\u5408\u3082\u3001NIPT\u306f\u3042\u304f\u307e\u3067\u975e\u78ba\u5b9a\u7684\u306a\u691c\u67fb\u3067\u3042\u308a\u3001\u78ba\u5b9a\u8a3a\u65ad\u306b\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u306a\u3069\u306e\u78ba\u5b9a\u7684\u691c\u67fb\u304c\u5fc5\u8981\u306b\u306a\u308b\u70b9\u306f\u5909\u308f\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u3054\u81ea\u8eab\u3084\u3054\u5bb6\u65cf\u306e\u72b6\u6cc1\u306b\u5fdc\u3058\u3066\u3069\u306e\u691c\u67fb\u3092\u9078\u3076\u3079\u304d\u304b\u8ff7\u3046\u5834\u5408\u306f\u3001\u307e\u305a<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-testing-overview-japan\/\">NIPT\u306e\u57fa\u672c\u7684\u306a\u4ed5\u7d44\u307f\u3092\u89e3\u8aac\u3057\u305f\u8a18\u4e8b<\/a>\u3067\u5168\u4f53\u50cf\u3092\u78ba\u8a8d\u3057\u305f\u3046\u3048\u3067\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-counseling\/\">\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/a>\u3067\u5c02\u9580\u5bb6\u306b\u5177\u4f53\u7684\u306b\u76f8\u8ac7\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"9_%E3%81%BE%E3%81%A8%E3%82%81\"><\/span><strong>9. \u307e\u3068\u3081<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u3053\u3053\u307e\u3067\u306e\u91cd\u8981\u30dd\u30a4\u30f3\u30c8\u3092\u632f\u308a\u8fd4\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<figure class=\"wp-block-table\"><table class=\"has-fixed-layout\"><tbody><tr><td><strong>\u9805\u76ee<\/strong><\/td><td><strong>\u30dd\u30a4\u30f3\u30c8<\/strong><\/td><\/tr><tr><td>\u75c5\u6c17\u306e\u7279\u5fb4<\/td><td>CLN3\u907a\u4f1d\u5b50\u306e\u5909\u5316\u306b\u3088\u308b\u3001\u8996\u529b\u4f4e\u4e0b\u304b\u3089\u59cb\u307e\u308b\u9032\u884c\u6027\u306e\u795e\u7d4c\u5909\u6027\u75be\u60a3<\/td><\/tr><tr><td>\u4e3b\u306a\u75c7\u72b6<\/td><td>\u8996\u529b\u4f4e\u4e0b\u3001\u5b66\u7fd2\u30fb\u8a00\u8449\u306e\u9000\u884c\u3001\u3051\u3044\u308c\u3093\u767a\u4f5c\u3001\u904b\u52d5\u969c\u5bb3\u3001\u56a5\u4e0b\u56f0\u96e3<\/td><\/tr><tr><td>\u539f\u56e0<\/td><td>\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u3002CLN3\u907a\u4f1d\u5b50\u306e1.02kb\u6b20\u5931\u306a\u3069\u306e\u5909\u5316\u3002\u89aa\u306e\u305b\u3044\u3067\u8d77\u3053\u308b\u3082\u306e\u3067\u306f\u306a\u3044<\/td><\/tr><tr><td>\u8a3a\u65ad<\/td><td>\u8840\u6db2\u691c\u67fb\u30fbERG\u30fbOCT\u30fb\u907a\u4f1d\u5b50\u691c\u67fb\u30fb\u96fb\u5b50\u9855\u5fae\u93e1\u691c\u67fb\u3092\u7d44\u307f\u5408\u308f\u305b\u3066\u7dcf\u5408\u7684\u306b\u5224\u65ad<\/td><\/tr><tr><td>\u6cbb\u7642<\/td><td>\u6839\u672c\u6cbb\u7642\u306f\u672a\u78ba\u7acb\u3002\u5bfe\u75c7\u7642\u6cd5\u3068\u591a\u8077\u7a2e\u9023\u643a\u304c\u4e2d\u5fc3\u3002\u907a\u4f1d\u5b50\u6cbb\u7642\u306a\u3069\u306f\u7814\u7a76\u6bb5\u968e<\/td><\/tr><tr><td>NIPT\u3068\u306e\u95a2\u4fc2<\/td><td>\u57fa\u672c\u7684\u306aNIPT\u306e\u5bfe\u8c61\u7bc4\u56f2\u5916\u3002\u5bb6\u65cf\u6b74\u304c\u3042\u308b\u5834\u5408\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u7b49\u3067\u306e\u78ba\u5b9a\u691c\u67fb\u304c\u9078\u629e\u80a2<\/td><\/tr><\/tbody><\/table><\/figure>\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=\"CLN3%E7%97%85%EF%BC%88%E8%8B%A5%E5%B9%B4%E5%9E%8B%E3%83%90%E3%83%83%E3%83%86%E3%83%B3%E7%97%85%EF%BC%89%E3%81%A8%E3%81%AF%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E7%97%85%E6%B0%97%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\"><\/span>CLN3\u75c5\uff08\u82e5\u5e74\u578b\u30d0\u30c3\u30c6\u30f3\u75c5\uff09\u3068\u306f\u3069\u306e\u3088\u3046\u306a\u75c5\u6c17\u3067\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u7b2c16\u67d3\u8272\u4f53\u306b\u3042\u308bCLN3\u907a\u4f1d\u5b50\u306e\u5909\u5316\u306b\u3088\u3063\u3066\u8d77\u3053\u308b\u3001\u5b50\u3069\u3082\u306e\u3053\u308d\u306b\u767a\u75c7\u3059\u308b\u9032\u884c\u6027\u306e\u795e\u7d4c\u5909\u6027\u75be\u60a3\u3067\u3059\u30024\u301c7\u6b73\u3054\u308d\u306e\u8996\u529b\u4f4e\u4e0b\u304b\u3089\u59cb\u307e\u308a\u3001\u5b66\u7fd2\u306e\u9045\u308c\u3001\u8a00\u8449\u306e\u9000\u884c\u3001\u3051\u3044\u308c\u3093\u767a\u4f5c\u3001\u904b\u52d5\u6a5f\u80fd\u306e\u4f4e\u4e0b\u304c\u6bb5\u968e\u7684\u306b\u73fe\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"CLN3%E7%97%85%E3%81%AF%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>CLN3\u75c5\u306f\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\u75c5\u6c17\u3067\u3001\u3054\u4e21\u89aa\u306e\u4e21\u65b9\u304c\u5909\u5316\u3057\u305f\u907a\u4f1d\u5b50\u3092\u6301\u3064\u4fdd\u56e0\u8005\u306e\u5834\u5408\u3001\u304a\u5b50\u3055\u3093\u306b\u767a\u75c7\u3059\u308b\u78ba\u7387\u306f25%\u3067\u3059\u3002\u3054\u4e21\u89aa\u304c\u5065\u5eb7\u3067\u3082\u767a\u75c7\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u89aa\u5fa1\u3055\u3093\u306e\u598a\u5a20\u4e2d\u306e\u751f\u6d3b\u304c\u539f\u56e0\u306b\u306a\u308b\u3082\u306e\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"CLN3%E7%97%85%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>CLN3\u75c5\u306fNIPT\u3067\u308f\u304b\u308a\u307e\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u57fa\u672c\u7684\u306aNIPT\uff0821\u30fb18\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/patau-syndrome\/\">13\u30c8\u30ea\u30bd\u30df\u30fc<\/a>\u7b49\u306e\u67d3\u8272\u4f53\u6570\u306e\u7570\u5e38\u3092\u8abf\u3079\u308b\u691c\u67fb\uff09\u306e\u5bfe\u8c61\u306b\u306f\u542b\u307e\u308c\u307e\u305b\u3093\u3002CLN3\u75c5\u306f\u67d3\u8272\u4f53\u306e\u6570\u3067\u306f\u306a\u304fCLN3\u907a\u4f1d\u5b501\u3064\u306e\u5909\u5316\u3067\u8d77\u3053\u308b\u305f\u3081\u3067\u3059\u3002\u5bb6\u65cf\u5185\u306bCLN3\u75c5\u306e\u65b9\u3084\u4fdd\u56e0\u8005\u304c\u5224\u660e\u3057\u3066\u3044\u308b\u5834\u5408\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chorionic-villus-test\/\">\u7d68\u6bdb\u691c\u67fb<\/a>\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u3067CLN3\u907a\u4f1d\u5b50\u3092\u76f4\u63a5\u8abf\u3079\u308b\u78ba\u5b9a\u7684\u691c\u67fb\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=\"%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E6%A4%9C%E6%9F%BB%E3%81%A7%E8%A8%BA%E6%96%AD%E3%81%95%E3%82%8C%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u3069\u306e\u3088\u3046\u306a\u691c\u67fb\u3067\u8a3a\u65ad\u3055\u308c\u307e\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u672b\u68a2\u8840\u5857\u62b9\u691c\u67fb\u3001\u7db2\u819c\u96fb\u56f3\uff08ERG\uff09\u3001\u5149\u5e72\u6e09\u65ad\u5c64\u8a08\uff08OCT\uff09\u3001\u907a\u4f1d\u5b50\u691c\u67fb\u3001\u96fb\u5b50\u9855\u5fae\u93e1\u691c\u67fb\u306a\u3069\u3092\u7d44\u307f\u5408\u308f\u305b\u3066\u8a3a\u65ad\u3057\u307e\u3059\u3002\u7279\u306bCLN3\u907a\u4f1d\u5b50\u306e1.02kb\u6b20\u5931\u3092\u78ba\u8a8d\u3059\u308b\u907a\u4f1d\u5b50\u691c\u67fb\u304c\u78ba\u5b9a\u8a3a\u65ad\u306e\u4e2d\u5fc3\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%B2%BB%E7%99%82%E6%B3%95%E3%81%AF%E3%81%82%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u73fe\u6642\u70b9\u3067CLN3\u75c5\u305d\u306e\u3082\u306e\u3092\u6cbb\u3059\u6839\u672c\u6cbb\u7642\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002\u3066\u3093\u304b\u3093\u3084\u904b\u52d5\u969c\u5bb3\u3078\u306e\u5bfe\u75c7\u7642\u6cd5\u3001\u8a00\u8a9e\u30fb\u6804\u990a\u30fb\u5fc3\u7406\u9762\u3078\u306e\u591a\u8077\u7a2e\u652f\u63f4\u304c\u6cbb\u7642\u306e\u4e2d\u5fc3\u3067\u3059\u3002\u907a\u4f1d\u5b50\u6cbb\u7642\u306a\u3069\u306f\u7814\u7a76\u30fb\u81e8\u5e8a\u8a66\u9a13\u306e\u6bb5\u968e\u306b\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%B5%8C%E6%B8%88%E7%9A%84%E3%81%AA%E6%94%AF%E6%8F%B4%E5%88%B6%E5%BA%A6%E3%81%AF%E3%81%82%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u7d4c\u6e08\u7684\u306a\u652f\u63f4\u5236\u5ea6\u306f\u3042\u308a\u307e\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u795e\u7d4c\u30bb\u30ed\u30a4\u30c9\u30ea\u30dd\u30d5\u30b9\u30c1\u30f3\u75c7\u306f\u5c0f\u5150\u6162\u6027\u7279\u5b9a\u75be\u75c5\u3068\u3057\u3066\u533b\u7642\u8cbb\u52a9\u6210\u306e\u5bfe\u8c61\u306b\u306a\u308a\u5f97\u307e\u3059\u3002\u5bfe\u8c61\u7bc4\u56f2\u3084\u7533\u8acb\u65b9\u6cd5\u306f\u81ea\u6cbb\u4f53\u306b\u3088\u3063\u3066\u7570\u306a\u308b\u305f\u3081\u3001\u5c0f\u5150\u6162\u6027\u7279\u5b9a\u75be\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc\u3084\u81ea\u6cbb\u4f53\u7a93\u53e3\u3001\u6cbb\u7642\u4e2d\u306e\u533b\u7642\u6a5f\u95a2\u306e\u76f8\u8ac7\u7a93\u53e3\u3067\u78ba\u8a8d\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<div style=\"border:1px solid #f0d0dc;border-radius:12px;padding:1.2em 1.4em;margin:2.5rem 0 1rem;background:#fffafc;\">\n<p style=\"margin:0 0 0.4em;font-weight:bold;\">\u8457\u8005\u30fb\u76e3\u4fee<\/p>\n<p style=\"margin:0;\">\u5ca1 \u535a\u53f2\uff08\u304a\u304b \u3072\u308d\u3057\uff09\uff0f\u533b\u7642\u6cd5\u4eba\u793e\u56e3\u798f\u7f8e\u4f1a \u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u7d71\u62ec\u9662\u9577\u30fbLabo Director\uff08\u30e9\u30dc\u30c7\u30a3\u30ec\u30af\u30bf\u30fc\uff09\u3002\u6176\u61c9\u7fa9\u587e\u5927\u5b66\u533b\u5b66\u90e8\u5352\u696d\u5f8c\u3001\u65e5\u672c\u3068\u7c73\u56fd\u306e\u533b\u5e2b\u56fd\u5bb6\u8a66\u9a13\u306b\u5408\u683c\u3057\u3001\u533b\u5b66\u535a\u58eb\u3092\u53d6\u5f97\u3002\u65e5\u672c\u306b\u7d0420\u4eba\u3057\u304b\u3044\u306a\u3044\u30e9\u30dc\u30c7\u30a3\u30ec\u30af\u30bf\u30fc\u8cc7\u683c\u3092\u4fdd\u6709\u3002\u672c\u8a18\u4e8b\u306fGARD\u30fbMedlinePlus Genetics\u30fbStatPearls\uff08NCBI Bookshelf\uff09\u30fb\u5c0f\u5150\u6162\u6027\u7279\u5b9a\u75be\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc\u306a\u3069\u306e\u516c\u7684\u6a5f\u95a2\u30fb\u5b66\u8853\u60c5\u5831\u3092\u53c2\u7167\u3057\u3066\u4f5c\u6210\u3057\u3066\u3044\u307e\u3059\u3002\u8a18\u8f09\u306e\u983b\u5ea6\u30fb\u6570\u5024\u306f\u5831\u544a\u4f8b\u304c\u5c11\u306a\u304f\u6587\u732e\u306b\u3088\u308a\u5e45\u304c\u3042\u308a\u3001\u8a3a\u65ad\u30fb\u6cbb\u7642\u30fb\u751f\u6d3b\u652f\u63f4\u306e\u6700\u7d42\u5224\u65ad\u306f\u62c5\u5f53\u533b\u30fb\u5c02\u9580\u533b\u7642\u6a5f\u95a2\u306b\u3054\u76f8\u8ac7\u304f\u3060\u3055\u3044\u3002<\/p>\n<\/div>\n\n\n\n<p>\u53c2\u8003\u6587\u732e\uff1a<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/4938\/juvenile-neuronal-ceroid-lipofuscinosis\" target=\"_blank\" rel=\"noopener\">Juvenile neuronal ceroid lipofuscinosis\uff08GARD, \u7c73\u56fd\u56fd\u7acb\u885b\u751f\u7814\u7a76\u6240\uff09<\/a>\u3001<a href=\"https:\/\/medlineplus.gov\/genetics\/condition\/cln3-disease\/\" target=\"_blank\" rel=\"noopener\">CLN3 disease\uff08MedlinePlus Genetics, \u7c73\u56fd\u56fd\u7acb\u533b\u5b66\u56f3\u66f8\u9928\uff09<\/a>\u3001<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK606097\/\" target=\"_blank\" rel=\"noopener\">Batten Disease (Juvenile Neuronal Ceroid Lipofuscinosis)\uff08StatPearls, NCBI Bookshelf\uff09<\/a>\u3001<a href=\"https:\/\/www.shouman.jp\/disease\/details\/08_06_101\/\" target=\"_blank\" rel=\"noopener\">\u795e\u7d4c\u30bb\u30ed\u30a4\u30c9\u30ea\u30dd\u30d5\u30b9\u30c1\u30f3\u75c7 \u6982\u8981\uff08\u5c0f\u5150\u6162\u6027\u7279\u5b9a\u75be\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc\uff09<\/a><\/p>\n\n\n\n<p>\u540c\u3058\u795e\u7d4c\u30bb\u30ed\u30a4\u30c9\u30ea\u30dd\u30d5\u30b9\u30c1\u30f3\u75c7\u306e\u30b0\u30eb\u30fc\u30d7\u306b\u5c5e\u3059\u308b\u75be\u60a3\u306b\u3064\u3044\u3066\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/neuronal-ceroid-lipofuscinosis-tpp1-related\/\">\u795e\u7d4c\u30bb\u30ed\u30a4\u30c9\u30ea\u30dd\u30d5\u30b9\u30c1\u30f3\u75c7\uff08TPP1\u95a2\u9023\u30fbCLN2\uff09\u306e\u89e3\u8aac\u8a18\u4e8b<\/a>\u3082\u3042\u308f\u305b\u3066\u3054\u78ba\u8a8d\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<p>NIPT\u3067\u967d\u6027\u306e\u7d50\u679c\u304c\u51fa\u305f\u5834\u5408\u306e\u6b21\u306e\u30b9\u30c6\u30c3\u30d7\u306b\u3064\u3044\u3066\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-positive-next-steps\/\">\u3053\u3061\u3089\u306e\u8a18\u4e8b<\/a>\u3067\u8a73\u3057\u304f\u89e3\u8aac\u3057\u3066\u3044\u307e\u3059\u3002\u3054\u81ea\u8eab\u306b\u5408\u3046\u691c\u67fb\u30d7\u30e9\u30f3\u304c\u5206\u304b\u3089\u306a\u3044\u5834\u5408\u306f\u3001<strong><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/plan-finder\/\">\u30d7\u30e9\u30f3\u8a3a\u65ad<\/a><\/strong>\u3082\u304a\u8a66\u3057\u304f\u3060\u3055\u3044\u3002\u304a\u96fb\u8a71\u3067\u306e\u3054\u76f8\u8ac7\u3082\u53d7\u3051\u4ed8\u3051\u3066\u3044\u307e\u3059\u3002<a href=\"tel:0120169629\">0120-169-629<\/a>\u307e\u3067\u304a\u6c17\u8efd\u306b\u304a\u554f\u3044\u5408\u308f\u305b\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<div class=\"wp-block-buttons is-content-justification-center is-layout-flex wp-container-core-buttons-is-layout-16018d1d wp-block-buttons-is-layout-flex\">\n<div class=\"wp-block-button\"><a class=\"wp-block-button__link wp-element-button\" href=\"https:\/\/mypage-nipt-reservation.hiro-clinic.or.jp\/registration\" target=\"_blank\" rel=\"noopener\">NIPT\u306e\u4e88\u7d04\u306f\u3053\u3061\u3089<\/a><\/div>\n\n\n<div class=\"wp-block-button is-style-outline is-style-outline--1\"><a class=\"wp-block-button__link wp-element-button\" 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