{"id":121841,"date":"2026-01-07T17:42:44","date_gmt":"2026-01-07T08:42:44","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=121841"},"modified":"2026-07-27T05:22:46","modified_gmt":"2026-07-26T20:22:46","slug":"chromosome-17p-duplication-syndrome-ptls-guide","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-17p-duplication-syndrome-ptls-guide\/","title":{"rendered":"17p\u91cd\u8907\u75c7\u5019\u7fa4\uff08\u30dd\u30c8\u30c3\u30ad\u30fb\u30eb\u30d7\u30b9\u30ad\u75c7\u5019\u7fa4\uff09"},"content":{"rendered":"<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img loading=\"lazy\" decoding=\"async\" width=\"1024\" height=\"576\" src=\"\/nipt\/wp-content\/uploads\/2025\/11\/image-1024x576.jpeg\" alt=\"17p\u91cd\u8907\u75c7\u5019\u7fa4\uff08\u30dd\u30c8\u30c3\u30ad\u30fb\u30eb\u30d7\u30b9\u30ad\u75c7\u5019\u7fa4\uff09\u306e\u89e3\u8aac\u30a4\u30e1\u30fc\u30b8\" class=\"wp-image-119961\"\/><\/figure><\/div>\n\n\n<div style=\"border:solid #ffe6e6 0.8rem;background-color: #fff9f9;padding:3% 5%;margin:1rem 0 3rem;\">\n<h2 style=\"margin-top:1rem;\">\u3053\u306e\u8a18\u4e8b\u306e\u307e\u3068\u3081<\/h2>\n<p><strong>17p\u91cd\u8907\u75c7\u5019\u7fa4\uff08\u30dd\u30c8\u30c3\u30ad\u30fb\u30eb\u30d7\u30b9\u30ad\u75c7\u5019\u7fa4\u3001Potocki-Lupski Syndrome: PTLS\uff09\u306f\u300117\u756a\u67d3\u8272\u4f53\u77ed\u815511.2\u9818\u57df\uff0817p11.2\uff09\u306e\u91cd\u8907\u3067\u8d77\u3053\u308b\u5e0c\u5c11\u75be\u60a3\u3067\u3059\u3002<\/strong>\u4e73\u5150\u671f\u306e\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3084\u54fa\u4e73\u969c\u5bb3\u3001\u767a\u9054\u306e\u3086\u3063\u304f\u308a\u3055\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7<\/a>\uff08ASD\uff09\u306e\u7279\u6027\u306a\u3069\u304c\u4ee3\u8868\u7684\u306a\u7279\u5fb4\u3067\u3059\u3002\u6709\u75c5\u7387\u306f\u7d042\u4e075000\u4eba\u306b1\u4eba\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u539f\u56e0\u306e\u591a\u304f\u306fRAI1\u907a\u4f1d\u5b50\u306e\u904e\u5270\u306b\u3042\u308a\u307e\u3059\u304c\u3001\u307b\u3068\u3093\u3069\u304c\u5076\u767a\u7684\u306a\u65b0\u898f\u5909\u7570\uff08de novo\uff09\u3067\u3001\u3054\u4e21\u89aa\u306e\u80b2\u3066\u65b9\u3084\u598a\u5a20\u4e2d\u306e\u904e\u3054\u3057\u65b9\u304c\u539f\u56e0\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u672c\u8a18\u4e8b\u3067\u306f\u3001\u75c7\u72b6\u30fb\u539f\u56e0\u30fb\u8a3a\u65ad\u30fb\u6cbb\u7642\u30fb\u751f\u6d3b\u306e\u5de5\u592b\u307e\u3067\u3092\u3001GeneReviews\u306a\u3069\u56fd\u5185\u5916\u306e\u516c\u7684\u30fb\u5b66\u8853\u60c5\u5831\u306b\u3082\u3068\u3065\u3044\u3066\u89e3\u8aac\u3057\u307e\u3059\u3002\n<\/p><\/div>\n\n\n\n<div style=\"border:solid #e6f0ff 0.6rem;background-color:#f7fbff;padding:3% 5%;margin:1rem 0 3rem;\">\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_86 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">\u76ee\u6b21<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" height=\"10px\" viewBox=\"0 0 24 24\" version=\"1.2\" baseProfile=\"tiny\"><path d=\"M18.2 9.3l-6.2-6.3-6.2 6.3c-.2.2-.3.4-.3.7s.1.5.3.7c.2.2.4.3.7.3h11c.3 0 .5-.1.7-.3.2-.2.3-.5.3-.7s-.1-.5-.3-.7zM5.8 14.7l6.2 6.3 6.2-6.3c.2-.2.3-.5.3-.7s-.1-.5-.3-.7c-.2-.2-.4-.3-.7-.3h-11c-.3 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\u6982\u8981\uff1a17p\u91cd\u8907\u75c7\u5019\u7fa4\uff08PTLS\uff09\u3068\u306f\u3069\u306e\u3088\u3046\u306a\u75c5\u6c17\u304b<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-17p-duplication-syndrome-ptls-guide\/#%E6%9F%93%E8%89%B2%E4%BD%93%E3%81%AE%E3%80%8C%E4%BD%8F%E6%89%80%E3%80%8D%E3%82%92%E8%AA%AD%E3%81%BF%E8%A7%A3%E3%81%8F\" >\u67d3\u8272\u4f53\u306e\u300c\u4f4f\u6240\u300d\u3092\u8aad\u307f\u89e3\u304f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-17p-duplication-syndrome-ptls-guide\/#%E3%80%8C%E3%82%B9%E3%83%9F%E3%82%B9%E3%83%BB%E3%83%9E%E3%82%AE%E3%83%8B%E3%82%B9%E7%97%87%E5%80%99%E7%BE%A4%E3%80%8D%E3%81%A8%E3%81%AE%E9%8F%A1%E3%81%AE%E9%96%A2%E4%BF%82\" >\u300c\u30b9\u30df\u30b9\u30fb\u30de\u30ae\u30cb\u30b9\u75c7\u5019\u7fa4\u300d\u3068\u306e\u93e1\u306e\u95a2\u4fc2<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-17p-duplication-syndrome-ptls-guide\/#2_%E4%B8%BB%E3%81%AA%E7%97%87%E7%8A%B6%EF%BC%9A%E6%99%82%E6%9C%9F%E3%83%BB%E9%A0%98%E5%9F%9F%E5%88%A5%E3%81%AB%E3%81%BF%E3%82%8B%E7%89%B9%E5%BE%B4\" >2. \u4e3b\u306a\u75c7\u72b6\uff1a\u6642\u671f\u30fb\u9818\u57df\u5225\u306b\u307f\u308b\u7279\u5fb4<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-17p-duplication-syndrome-ptls-guide\/#1_%E6%88%90%E9%95%B7%E3%81%A8%E5%93%BA%E4%B9%B3%E3%81%AE%E5%95%8F%E9%A1%8C%EF%BC%88%E4%B9%B3%E5%85%90%E6%9C%9F%EF%BC%89\" >1. \u6210\u9577\u3068\u54fa\u4e73\u306e\u554f\u984c\uff08\u4e73\u5150\u671f\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-17p-duplication-syndrome-ptls-guide\/#2_%E7%99%BA%E9%81%94%E3%81%A8%E7%9F%A5%E8%83%BD%E3%81%AE%E7%89%B9%E5%BE%B4\" >2. \u767a\u9054\u3068\u77e5\u80fd\u306e\u7279\u5fb4<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-17p-duplication-syndrome-ptls-guide\/#3_%E8%A1%8C%E5%8B%95%E3%83%BB%E7%89%B9%E6%80%A7%E3%81%AE%E7%89%B9%E5%BE%B4\" >3. \u884c\u52d5\u30fb\u7279\u6027\u306e\u7279\u5fb4<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-17p-duplication-syndrome-ptls-guide\/#4_%E8%BA%AB%E4%BD%93%E7%9A%84%E3%81%AA%E7%89%B9%E5%BE%B4\" >4. \u8eab\u4f53\u7684\u306a\u7279\u5fb4<\/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\/chromosome-17p-duplication-syndrome-ptls-guide\/#5_%E3%81%9D%E3%81%AE%E4%BB%96%E3%81%AE%E5%90%88%E4%BD%B5%E7%97%87\" >5. \u305d\u306e\u4ed6\u306e\u5408\u4f75\u75c7<\/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\/chromosome-17p-duplication-syndrome-ptls-guide\/#3_%E5%8E%9F%E5%9B%A0%EF%BC%9A%E3%81%AA%E3%81%9C%E8%B5%B7%E3%81%8D%E3%81%9F%E3%81%AE%E3%81%8B\" >3. \u539f\u56e0\uff1a\u306a\u305c\u8d77\u304d\u305f\u306e\u304b<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-12\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-17p-duplication-syndrome-ptls-guide\/#1_%E7%AA%81%E7%84%B6%E5%A4%89%E7%95%B0%EF%BC%88de_novo%E5%A4%89%E7%95%B0%EF%BC%89\" >1. \u7a81\u7136\u5909\u7570\uff08de novo\u5909\u7570\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-13\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-17p-duplication-syndrome-ptls-guide\/#2_%E8%A6%AA%E3%81%AE%E6%9F%93%E8%89%B2%E4%BD%93%E8%BB%A2%E5%BA%A7%EF%BC%88%E3%81%BE%E3%82%8C%E3%81%AA%E3%82%B1%E3%83%BC%E3%82%B9%EF%BC%89\" >2. \u89aa\u306e\u67d3\u8272\u4f53\u8ee2\u5ea7\uff08\u307e\u308c\u306a\u30b1\u30fc\u30b9\uff09<\/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\/chromosome-17p-duplication-syndrome-ptls-guide\/#3_%E9%87%8D%E8%A6%81%E9%81%BA%E4%BC%9D%E5%AD%90%EF%BC%9ARAI1%E3%81%AE%E5%BD%B9%E5%89%B2\" >3. \u91cd\u8981\u907a\u4f1d\u5b50\uff1aRAI1\u306e\u5f79\u5272<\/a><\/li><\/ul><\/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\/chromosome-17p-duplication-syndrome-ptls-guide\/#4_%E8%A8%BA%E6%96%AD%E3%81%A8%E6%A4%9C%E6%9F%BB%E3%81%AE%E6%B5%81%E3%82%8C\" >4. \u8a3a\u65ad\u3068\u691c\u67fb\u306e\u6d41\u308c<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-17p-duplication-syndrome-ptls-guide\/#1_%E3%83%9E%E3%82%A4%E3%82%AF%E3%83%AD%E3%82%A2%E3%83%AC%E3%82%A4%E6%9F%93%E8%89%B2%E4%BD%93%E6%A4%9C%E6%9F%BB%EF%BC%88CMA%EF%BC%89\" >1. \u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-17p-duplication-syndrome-ptls-guide\/#2_FISH%E6%B3%95\" >2. FISH\u6cd5<\/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\/chromosome-17p-duplication-syndrome-ptls-guide\/#3_%E8%A8%BA%E6%96%AD%E5%BE%8C%E3%81%AB%E6%8E%A8%E5%A5%A8%E3%81%95%E3%82%8C%E3%82%8B%E8%A9%95%E4%BE%A1\" >3. \u8a3a\u65ad\u5f8c\u306b\u63a8\u5968\u3055\u308c\u308b\u8a55\u4fa1<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-19\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-17p-duplication-syndrome-ptls-guide\/#5_%E6%B2%BB%E7%99%82%E3%81%A8%E7%AE%A1%E7%90%86%EF%BC%9A%E3%81%93%E3%82%8C%E3%81%8B%E3%82%89%E3%81%AE%E3%83%AD%E3%83%BC%E3%83%89%E3%83%9E%E3%83%83%E3%83%97\" >5. \u6cbb\u7642\u3068\u7ba1\u7406\uff1a\u3053\u308c\u304b\u3089\u306e\u30ed\u30fc\u30c9\u30de\u30c3\u30d7<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-20\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-17p-duplication-syndrome-ptls-guide\/#1_%E6%97%A9%E6%9C%9F%E7%99%82%E8%82%B2%EF%BC%88%E3%83%8F%E3%83%93%E3%83%AA%E3%83%86%E3%83%BC%E3%82%B7%E3%83%A7%E3%83%B3%EF%BC%89\" >1. \u65e9\u671f\u7642\u80b2\uff08\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-21\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-17p-duplication-syndrome-ptls-guide\/#2_%E6%A0%84%E9%A4%8A%E3%81%A8%E9%A3%9F%E4%BA%8B%E3%81%AE%E7%AE%A1%E7%90%86\" >2. \u6804\u990a\u3068\u98df\u4e8b\u306e\u7ba1\u7406<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-22\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-17p-duplication-syndrome-ptls-guide\/#3_%E5%90%88%E4%BD%B5%E7%97%87%E3%81%AE%E7%AE%A1%E7%90%86\" >3. \u5408\u4f75\u75c7\u306e\u7ba1\u7406<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-23\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-17p-duplication-syndrome-ptls-guide\/#6_%E6%97%A5%E3%80%85%E3%81%AE%E7%94%9F%E6%B4%BB%E3%81%A7%E3%81%AE%E5%B7%A5%E5%A4%AB\" >6. \u65e5\u3005\u306e\u751f\u6d3b\u3067\u306e\u5de5\u592b<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-24\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-17p-duplication-syndrome-ptls-guide\/#7_%E4%BC%BC%E3%81%9F%E5%90%8D%E5%89%8D%E3%81%AE%E7%96%BE%E6%82%A3%E3%81%A8%E3%81%AE%E9%81%95%E3%81%84%EF%BC%88%E8%A1%A8%E3%81%A7%E6%95%B4%E7%90%86%EF%BC%89\" >7. \u4f3c\u305f\u540d\u524d\u306e\u75be\u60a3\u3068\u306e\u9055\u3044\uff08\u8868\u3067\u6574\u7406\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-25\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-17p-duplication-syndrome-ptls-guide\/#8_%E5%A6%8A%E5%A8%A0%E4%B8%AD%E3%81%AENIPT%E3%81%A8%E3%81%AE%E9%96%A2%E4%BF%82\" >8. \u598a\u5a20\u4e2d\u306eNIPT\u3068\u306e\u95a2\u4fc2<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-26\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-17p-duplication-syndrome-ptls-guide\/#9_%E3%81%94%E5%AE%B6%E6%97%8F%E3%81%B8%E3%81%AE%E3%83%A1%E3%83%83%E3%82%BB%E3%83%BC%E3%82%B8\" >9. \u3054\u5bb6\u65cf\u3078\u306e\u30e1\u30c3\u30bb\u30fc\u30b8<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-27\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-17p-duplication-syndrome-ptls-guide\/#%E6%AC%A1%E3%81%AE%E3%82%A2%E3%82%AF%E3%82%B7%E3%83%A7%E3%83%B3%EF%BC%9A%E3%81%BE%E3%81%9A%E7%A2%BA%E8%AA%8D%E3%81%97%E3%81%9F%E3%81%84%E3%81%93%E3%81%A8\" >\u6b21\u306e\u30a2\u30af\u30b7\u30e7\u30f3\uff1a\u307e\u305a\u78ba\u8a8d\u3057\u305f\u3044\u3053\u3068<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-28\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-17p-duplication-syndrome-ptls-guide\/#%E3%82%88%E3%81%8F%E3%81%82%E3%82%8B%E8%B3%AA%E5%95%8F%EF%BC%88FAQ%EF%BC%89\" >\u3088\u304f\u3042\u308b\u8cea\u554f\uff08FAQ\uff09<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-29\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-17p-duplication-syndrome-ptls-guide\/#%E5%AF%BF%E5%91%BD%E3%81%AB%E5%BD%B1%E9%9F%BF%E3%81%AF%E3%81%82%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >\u5bff\u547d\u306b\u5f71\u97ff\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-30\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-17p-duplication-syndrome-ptls-guide\/#%E3%82%B7%E3%83%A3%E3%83%AB%E3%82%B3%E3%83%BC%E3%83%BB%E3%83%9E%E3%83%AA%E3%83%BC%E3%83%BB%E3%83%88%E3%82%A5%E3%83%BC%E3%82%B9%E7%97%85%EF%BC%88CMT1A%EF%BC%89%E3%81%A8%E3%81%AF%E9%81%95%E3%81%86%E3%81%AE%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\" >\u30b7\u30e3\u30eb\u30b3\u30fc\u30fb\u30de\u30ea\u30fc\u30fb\u30c8\u30a5\u30fc\u30b9\u75c5\uff08CMT1A\uff09\u3068\u306f\u9055\u3046\u306e\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-31\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-17p-duplication-syndrome-ptls-guide\/#%E3%80%8C17p12%E9%87%8D%E8%A4%87%E7%97%87%E5%80%99%E7%BE%A4%E3%80%8D%E3%82%84%E3%80%8CYUHAL%E7%97%87%E5%80%99%E7%BE%A4%E3%80%8D%E3%81%A8%E3%81%AF%E9%81%95%E3%81%86%E7%97%85%E6%B0%97%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\" >\u300c17p12\u91cd\u8907\u75c7\u5019\u7fa4\u300d\u3084\u300cYUHAL\u75c7\u5019\u7fa4\u300d\u3068\u306f\u9055\u3046\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-32\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-17p-duplication-syndrome-ptls-guide\/#%E8%87%AA%E9%96%89%E3%82%B9%E3%83%9A%E3%82%AF%E3%83%88%E3%83%A9%E3%83%A0%E7%97%87%EF%BC%88ASD%EF%BC%89%E3%81%AE%E7%89%B9%E6%80%A7%E3%81%AF%E3%81%A9%E3%81%AE%E3%81%8F%E3%82%89%E3%81%84%E3%81%AE%E5%89%B2%E5%90%88%E3%81%A7%E8%A6%8B%E3%82%89%E3%82%8C%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\uff08ASD\uff09\u306e\u7279\u6027\u306f\u3069\u306e\u304f\u3089\u3044\u306e\u5272\u5408\u3067\u898b\u3089\u308c\u307e\u3059\u304b\u3002<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-33\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-17p-duplication-syndrome-ptls-guide\/#%E6%AC%A1%E3%81%AE%E5%AD%90%E3%81%AB%E9%81%BA%E4%BC%9D%E3%81%97%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >\u6b21\u306e\u5b50\u306b\u907a\u4f1d\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-34\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-17p-duplication-syndrome-ptls-guide\/#%E5%A6%8A%E5%A8%A0%E4%B8%AD%E3%81%AENIPT%E3%81%A7%E3%81%93%E3%81%AE%E7%97%85%E6%B0%97%E3%81%AF%E3%82%8F%E3%81%8B%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >\u598a\u5a20\u4e2d\u306eNIPT\u3067\u3053\u306e\u75c5\u6c17\u306f\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-35\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-17p-duplication-syndrome-ptls-guide\/#17p%E9%87%8D%E8%A4%87%E7%97%87%E5%80%99%E7%BE%A4%E3%81%AF%E6%8C%87%E5%AE%9A%E9%9B%A3%E7%97%85%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\" >17p\u91cd\u8907\u75c7\u5019\u7fa4\u306f\u6307\u5b9a\u96e3\u75c5\u3067\u3059\u304b\u3002<\/a><\/li><\/ul><\/li><\/ul><\/nav><\/div>\n<h2 style=\"margin-top:1rem;\"><span class=\"ez-toc-section\" id=\"%E3%81%93%E3%81%AE%E8%A8%98%E4%BA%8B%E3%81%A7%E3%82%8F%E3%81%8B%E3%82%8B%E3%81%93%E3%81%A8\"><\/span>\u3053\u306e\u8a18\u4e8b\u3067\u308f\u304b\u308b\u3053\u3068<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<ul>\n<li>17p\u91cd\u8907\u75c7\u5019\u7fa4\uff08PTLS\uff09\u306e\u75c7\u72b6\u30fb\u539f\u56e0\u30fb\u8a3a\u65ad\u65b9\u6cd5\u306e\u5168\u4f53\u50cf<\/li>\n<li>\u300c\u30b9\u30df\u30b9\u30fb\u30de\u30ae\u30cb\u30b9\u75c7\u5019\u7fa4\u300d\u300c17p12\u91cd\u8907\u75c7\u5019\u7fa4\uff08CMT1A\u95a2\u9023\uff09\u300d\u300cYUHAL\u75c7\u5019\u7fa4\u300d\u3068\u306e\u9055\u3044<\/li>\n<li>\u6cbb\u7642\u30fb\u65e9\u671f\u7642\u80b2\u306e\u9032\u3081\u65b9\u3068\u3001\u65e5\u3005\u306e\u751f\u6d3b\u3067\u5f79\u7acb\u3064\u5de5\u592b<\/li>\n<li>\u598a\u5a20\u4e2d\u306eNIPT\u3068\u3053\u306e\u75be\u60a3\u306e\u95a2\u4fc2\u3001\u78ba\u5b9a\u8a3a\u65ad\u3068\u306e\u9055\u3044<\/li>\n<\/ul>\n<\/div>\n\n\n\n<p>\u304a\u5b50\u69d8\u304c\u300c17\u756a\u67d3\u8272\u4f53\u77ed\u8155\u91cd\u8907\uff08Chromosome 17p duplication\uff09\u300d\u3068\u3044\u3046\u8a3a\u65ad\u3092\u53d7\u3051\u305f\u3068\u304d\u3001\u3042\u308b\u3044\u306f\u300c17p11.2\u304c\u5897\u3048\u3066\u3044\u308b\u300d\u3068\u544a\u3052\u3089\u308c\u305f\u3068\u304d\u3002\u591a\u304f\u306e\u3054\u5bb6\u65cf\u306f\u805e\u304d\u6163\u308c\u306a\u3044\u75c5\u540d\u306b\u6238\u60d1\u3044\u3001\u6df1\u3044\u4e0d\u5b89\u3092\u611f\u3058\u3089\u308c\u305f\u3053\u3068\u3067\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<p>\u300c17\u756a\u67d3\u8272\u4f53\u300d\u306e\u75c5\u6c17\u3068\u3057\u3066\u306f\u3001\u907a\u4f1d\u5b50\u304c\u8db3\u308a\u306a\u304f\u306a\u308b\uff08\u6b20\u5931\u3059\u308b\uff09\u300c\u30b9\u30df\u30b9\u30fb\u30de\u30ae\u30cb\u30b9\u75c7\u5019\u7fa4\u300d\u3084\u3001\u300c\u30b7\u30e3\u30eb\u30b3\u30fc\u30fb\u30de\u30ea\u30fc\u30fb\u30c8\u30a5\u30fc\u30b9\u75c5\u300d\u306a\u3069\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u4eca\u56de\u8a3a\u65ad\u3055\u308c\u305f\u300c17p\u91cd\u8907\uff08\u30dd\u30c8\u30c3\u30ad\u30fb\u30eb\u30d7\u30b9\u30ad\u75c7\u5019\u7fa4\uff09\u300d\u306f\u3001\u305d\u308c\u3089\u3068\u306f\u7570\u306a\u308b\u7279\u5fb4\u3092\u6301\u3064\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u30a4\u30f3\u30bf\u30fc\u30cd\u30c3\u30c8\u3067\u691c\u7d22\u3057\u3066\u3082\u3001\u82f1\u8a9e\u306e\u60c5\u5831\u3070\u304b\u308a\u3067\u3001\u65e5\u672c\u8a9e\u306e\u8a73\u3057\u3044\u60c5\u5831\u306f\u307e\u3060\u5c11\u306a\u3044\u306e\u304c\u73fe\u72b6\u3067\u3059\u3002\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u5916\u6765\u3067\u3082\u3001\u300c\u8abf\u3079\u3066\u3082\u82f1\u8a9e\u306e\u30b5\u30a4\u30c8\u3057\u304b\u51fa\u3066\u3053\u306a\u304f\u3066\u6016\u304f\u306a\u3063\u305f\u300d\u3068\u8a71\u3055\u308c\u308b\u4fdd\u8b77\u8005\u306e\u65b9\u306b\u3001\u3053\u308c\u307e\u3067\u4f55\u5ea6\u3082\u304a\u4f1a\u3044\u3057\u3066\u304d\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u8a18\u4e8b\u3067\u306f\u3001\u533b\u5b66\u7684\u306a\u77e5\u8b58\u304c\u306a\u3044\u65b9\u3067\u3082\u7406\u89e3\u3067\u304d\u308b\u3088\u3046\u75c5\u6c17\u306e\u6b63\u4f53\u3092\u6574\u7406\u3057\u307e\u3059\u3002\u4e88\u60f3\u3055\u308c\u308b\u75c7\u72b6\u3001\u3053\u308c\u304b\u3089\u306e\u751f\u6d3b\u3067\u5927\u5207\u306b\u3057\u3066\u307b\u3057\u3044\u3053\u3068\u3082\u3001\u516c\u7684\u60c5\u5831\u306b\u3082\u3068\u3065\u3044\u3066\u4e01\u5be7\u306b\u89e3\u8aac\u3057\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E6%A6%82%E8%A6%81%EF%BC%9A17p%E9%87%8D%E8%A4%87%E7%97%87%E5%80%99%E7%BE%A4%EF%BC%88PTLS%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%8B\"><\/span><strong>1. \u6982\u8981\uff1a17p\u91cd\u8907\u75c7\u5019\u7fa4\uff08PTLS\uff09\u3068\u306f\u3069\u306e\u3088\u3046\u306a\u75c5\u6c17\u304b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>17p\u91cd\u8907\u75c7\u5019\u7fa4\u306f\u300117\u756a\u67d3\u8272\u4f53\u77ed\u815511.2\u9818\u57df\uff0817p11.2\uff09\u304c\u4f59\u5206\u306b\u5897\u3048\u3066\u3044\u308b\u90e8\u5206\u30c8\u30ea\u30bd\u30df\u30fc\u3067\u3059\u3002<\/strong>\u30d2\u30c8\u306e\u7d30\u80de\u306b\u3042\u308b46\u672c\u306e\u67d3\u8272\u4f53\u306e\u3046\u3061\u300117\u756a\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u91cd\u8907\u3059\u308b\u3053\u3068\u3067\u8d77\u3053\u308b\u751f\u307e\u308c\u3064\u304d\u306e\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u4e2d\u3067\u3082\u4ee3\u8868\u7684\u306a\u306e\u304c\u300117p11.2\u9818\u57df\u306e\u91cd\u8907\u306b\u3088\u308b\u300c\u30dd\u30c8\u30c3\u30ad\u30fb\u30eb\u30d7\u30b9\u30ad\u75c7\u5019\u7fa4\uff08Potocki-Lupski Syndrome: PTLS\uff09\u300d\u3067\u3059\u3002\u81e8\u5e8a\u7684\u306b\u306f\u3053\u306e\u540d\u79f0\u3067\u8a3a\u65ad\u3055\u308c\u307e\u3059\u3002\u6d77\u5916\u306e\u75ab\u5b66\u5831\u544a\u3067\u306f\u3001\u6709\u75c5\u7387\u306f\u304a\u3088\u305d2\u4e075000\u4eba\u306b1\u4eba\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\uff08Greenberg\u30891991\u5e74\u3001Liu\u30892011\u5e74\u306e\u5831\u544a\u306b\u3082\u3068\u3065\u304fGeneReviews\u306e\u8a18\u8f09\uff09\u3002<\/p>\n\n\n\n<p>\u203b\u3053\u306e\u8a18\u4e8b\u3067\u306f\u3001\u4e3b\u306b\u3053\u306ePTLS\u306b\u3064\u3044\u3066\u89e3\u8aac\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%9F%93%E8%89%B2%E4%BD%93%E3%81%AE%E3%80%8C%E4%BD%8F%E6%89%80%E3%80%8D%E3%82%92%E8%AA%AD%E3%81%BF%E8%A7%A3%E3%81%8F\"><\/span><strong>\u67d3\u8272\u4f53\u306e\u300c\u4f4f\u6240\u300d\u3092\u8aad\u307f\u89e3\u304f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3053\u306e\u75c5\u540d\u306f\u3001\u67d3\u8272\u4f53\u306e\u3069\u3053\u306b\u5909\u5316\u304c\u8d77\u304d\u3066\u3044\u308b\u304b\u3068\u3044\u3046\u300c\u4f4f\u6240\u300d\u3092\u8868\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Chromosome 17\uff0817\u756a\u67d3\u8272\u4f53\uff09: \u30d2\u30c8\u306e23\u5bfe\u306e\u67d3\u8272\u4f53\u306e\u3046\u3061\u300117\u756a\u76ee\u306e\u67d3\u8272\u4f53\u3067\u3059\u3002<\/li>\n\n\n\n<li>p\uff08\u77ed\u8155\uff09: \u67d3\u8272\u4f53\u306b\u306f\u304f\u3073\u308c\uff08\u52d5\u539f\u4f53\uff09\u304c\u3042\u308a\u3001\u77ed\u3044\u65b9\u3092\u300c\u77ed\u8155\uff08p\uff09\u300d\u3001\u9577\u3044\u65b9\u3092\u300c\u9577\u8155\uff08q\uff09\u300d\u3068\u547c\u3073\u307e\u3059\u3002\u4eca\u56de\u306f\u77ed\u3044\u65b9\u306e\u8155\u306b\u5909\u5316\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>11.2\uff08\u9818\u57df\uff09: \u77ed\u8155\u306e\u4ed8\u3051\u6839\u306b\u8fd1\u3044\u300c11.2\u756a\u300d\u3068\u3044\u3046\u533a\u753b\u3092\u6307\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>Duplication\uff08\u91cd\u8907\uff09: \u901a\u5e38\u306f2\u672c\uff08\u7236\u304b\u30891\u672c\u3001\u6bcd\u304b\u30891\u672c\uff09\u3067\u3042\u308b\u306f\u305a\u306e\u907a\u4f1d\u60c5\u5831\u304c\u3001\u4f59\u5206\u306b\u3082\u3046\u4e00\u3064\u3042\u308a\u3001\u5408\u8a083\u3064\u5206\u306e\u60c5\u5831\u304c\u3042\u308b\u72b6\u614b\u3067\u3059\uff08\u90e8\u5206\u30c8\u30ea\u30bd\u30df\u30fc\uff09\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%80%8C%E3%82%B9%E3%83%9F%E3%82%B9%E3%83%BB%E3%83%9E%E3%82%AE%E3%83%8B%E3%82%B9%E7%97%87%E5%80%99%E7%BE%A4%E3%80%8D%E3%81%A8%E3%81%AE%E9%8F%A1%E3%81%AE%E9%96%A2%E4%BF%82\"><\/span><strong>\u300c\u30b9\u30df\u30b9\u30fb\u30de\u30ae\u30cb\u30b9\u75c7\u5019\u7fa4\u300d\u3068\u306e\u93e1\u306e\u95a2\u4fc2<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5b9f\u306f\u3001\u3053\u306e17p11.2\u3068\u3044\u3046\u5834\u6240\u306f\u3001\u300c\u30b9\u30df\u30b9\u30fb\u30de\u30ae\u30cb\u30b9\u75c7\u5019\u7fa4\uff08SMS\uff09\u300d\u306e\u539f\u56e0\u3068\u306a\u308b\u5834\u6240\u3068\u5168\u304f\u540c\u3058\u3067\u3059\u3002SMS\u306b\u3064\u3044\u3066\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/smith-maginnis-syndrome\/\">\u30b9\u30df\u30b9\u30fb\u30de\u30ae\u30cb\u30b9\u75c7\u5019\u7fa4\u306e\u89e3\u8aac\u8a18\u4e8b<\/a>\u3067\u8a73\u3057\u304f\u89e3\u8aac\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>SMS:<\/strong> 17p11.2\u304c\u300c\u6b20\u5931\uff08\u8db3\u308a\u306a\u3044\uff09\u300d\u3057\u3066\u3044\u308b\u3002<\/li>\n\n\n\n<li><strong>PTLS:<\/strong> 17p11.2\u304c\u300c\u91cd\u8907\uff08\u591a\u3044\uff09\u300d\u3057\u3066\u3044\u308b\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u540c\u3058\u5834\u6240\u306e\u5909\u5316\u3067\u3082\u3001\u300c\u8db3\u308a\u306a\u3044\u300d\u304b\u300c\u591a\u3044\u300d\u304b\u3067\u5168\u304f\u5225\u306e\u75c5\u6c17\u306b\u306a\u308b\u3002\u67d3\u8272\u4f53\u533b\u5b66\u306e\u5965\u6df1\u3055\u3092\u7269\u8a9e\u308b\u597d\u4f8b\u3002<\/p>\n\n\n\n<p>SMS\u306f\u91cd\u5ea6\u306e\u7761\u7720\u969c\u5bb3\u3084\u81ea\u50b7\u884c\u70ba\u304c\u7279\u5fb4\u3067\u3059\u3002\u4e00\u65b9\u3001PTLS\uff08\u91cd\u8907\uff09\u306f\u6bd4\u8f03\u7684\u7a4f\u3084\u304b\u306a\u7279\u6027\u3092\u6301\u3064\u3053\u3068\u304c\u591a\u3044\u3082\u306e\u306e\u3001\u767a\u9054\u306e\u9045\u308c\u3084\u7279\u5fb4\u7684\u306a\u884c\u52d5\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/smith-maginnis-syndrome\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u30b9\u30df\u30b9\u30fb\u30de\u30ae\u30cb\u30b9\u75c7\u5019\u7fa4(Smith-Magenis Syndrome)\u3068\u306f\u3010\u533b\u5e2b\u76e3\u4fee\u3011 <\/div>\n          <div class=\"blog-card-excerpt\">\u30b9\u30df\u30b9\u30fb\u30de\u30ae\u30cb\u30b9\u75c7\u5019\u7fa4\u306f\u3001\u77ed\u3044\u982d\u3084\u984d\u306e\u7a81\u51fa\u306a\u3069\u306e\u8eab\u4f53\u7684\u75c7\u72b6\u3001\u7761\u7720\u969c\u5bb3\u3084\u81ea\u50b7\u884c\u70ba\u306a\u3069\u306e\u884c\u52d5\u306e\u7570\u5e38\u3001\u8a00\u8a9e\u306e\u767a\u9054\u969c\u5bb3\u306a\u3069\u306e\u77e5\u7684\u969c\u5bb3\u3092\u751f\u3058\u308b\u75be\u60a3\u3067\u3059...<\/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%E6%99%82%E6%9C%9F%E3%83%BB%E9%A0%98%E5%9F%9F%E5%88%A5%E3%81%AB%E3%81%BF%E3%82%8B%E7%89%B9%E5%BE%B4\"><\/span><strong>2. \u4e3b\u306a\u75c7\u72b6\uff1a\u6642\u671f\u30fb\u9818\u57df\u5225\u306b\u307f\u308b\u7279\u5fb4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>PTLS\u306e\u75c7\u72b6\u306f\u3001\u4e73\u5150\u671f\u306e\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3084\u54fa\u4e73\u969c\u5bb3\u304b\u3089\u59cb\u307e\u308a\u3001\u767a\u9054\u306e\u9045\u308c\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7<\/a>\uff08ASD\uff09\u306e\u7279\u6027\u3001\u5fc3\u75be\u60a3\u306a\u3069\u306e\u5408\u4f75\u75c7\u307e\u3067\u591a\u5c90\u306b\u308f\u305f\u308a\u307e\u3059\u3002<\/strong>\u91cd\u8907\u3057\u3066\u3044\u308b\u7bc4\u56f2\u306e\u5927\u304d\u3055\u3084\u500b\u4eba\u5dee\u306b\u3088\u3063\u3066\u73fe\u308c\u65b9\u306f\u7570\u306a\u308a\u307e\u3059\u304c\u3001\u5831\u544a\u306e\u84c4\u7a4d\u304b\u3089\u5171\u901a\u3057\u3084\u3059\u3044\u7279\u5fb4\u304c\u5206\u304b\u3063\u3066\u304d\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E6%88%90%E9%95%B7%E3%81%A8%E5%93%BA%E4%B9%B3%E3%81%AE%E5%95%8F%E9%A1%8C%EF%BC%88%E4%B9%B3%E5%85%90%E6%9C%9F%EF%BC%89\"><\/span><strong>1. \u6210\u9577\u3068\u54fa\u4e73\u306e\u554f\u984c\uff08\u4e73\u5150\u671f\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u751f\u307e\u308c\u3066\u3059\u3050\u306e\u8d64\u3061\u3083\u3093\u6642\u4ee3\u306b\u3001\u3054\u5bb6\u65cf\u304c\u6700\u521d\u306b\u76f4\u9762\u3059\u308b\u8ab2\u984c\u3067\u3059\u3002\u6d77\u5916\u306e\u5831\u544a\u3067\u306f\u3001\u540c\u5e74\u9f62\u306e\u5b50\u3069\u3082\u3068\u6bd4\u3079\u3066\u4f53\u91cd\u30fb\u8eab\u9577\u3068\u3082\u306b\u4f4e\u3044\u50be\u5411\u304c\u78ba\u8a8d\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08\u30cf\u30a4\u30dd\u30c8\u30cb\u30a2\uff09:<br>\u4f53\u304c\u67d4\u3089\u304b\u304f\u3001\u62b1\u3063\u3053\u3057\u305f\u6642\u306b\u3075\u306b\u3083\u3063\u3068\u3057\u3066\u3044\u308b\uff08\u30d5\u30ed\u30c3\u30d4\u30fc\u30a4\u30f3\u30d5\u30a1\u30f3\u30c8\uff09\u3002<\/li>\n\n\n\n<li>\u54fa\u4e73\u969c\u5bb3\uff08Failure to thrive\uff09:<br>\u304a\u3063\u3071\u3044\u3092\u5438\u3046\u529b\u304c\u5f31\u304b\u3063\u305f\u308a\u3001\u98f2\u307f\u8fbc\u3080\u306e\u304c\u4e0b\u624b\u3060\u3063\u305f\u308a\u3057\u3066\u3001\u4f53\u91cd\u304c\u306a\u304b\u306a\u304b\u5897\u3048\u306a\u3044\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u7d4c\u7ba1\u6804\u990a\uff08\u9f3b\u304b\u3089\u306e\u30c1\u30e5\u30fc\u30d6\uff09\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6210\u9577\u30db\u30eb\u30e2\u30f3\u306e\u5206\u6ccc\u4e0d\u8db3:<br>\u4f4e\u8eab\u9577\u3084\u4f4e\u4f53\u91cd\u304c\u898b\u3089\u308c\u308b\u5834\u5408\u3001\u30db\u30eb\u30e2\u30f3\u691c\u67fb\u3067\u5206\u6ccc\u4e0d\u5168\u304c\u898b\u3064\u304b\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E7%99%BA%E9%81%94%E3%81%A8%E7%9F%A5%E8%83%BD%E3%81%AE%E7%89%B9%E5%BE%B4\"><\/span><strong>2. \u767a\u9054\u3068\u77e5\u80fd\u306e\u7279\u5fb4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u767a\u9054\u306e\u30da\u30fc\u30b9\u306f\u3086\u3063\u304f\u308a\u3067\u3001\u30b5\u30dd\u30fc\u30c8\u304c\u5fc5\u8981\u3067\u3059\u3002\u8a00\u8449\u306e\u9045\u308c\u306f\u307b\u307c\u5168\u54e1\u306b\u898b\u3089\u308c\u307e\u3059\u304c\u3001\u904b\u52d5\u767a\u9054\u306f\u591a\u304f\u306e\u5834\u54082\u6b73\u307e\u3067\u306b\u72ec\u6b69\u3092\u7372\u5f97\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5168\u822c\u7684\u306a\u767a\u9054\u9045\u6ede:<br>\u9996\u306e\u3059\u308f\u308a\u3001\u304a\u5ea7\u308a\u3001\u6b69\u884c\u306a\u3069\u306e\u904b\u52d5\u767a\u9054\u304c\u9045\u308c\u307e\u3059\u3002\u5927\u534a\u306e\u304a\u5b50\u69d8\u306f2\u6b73\u307e\u3067\u306b\u72ec\u6b69\u3092\u7372\u5f97\u3057\u307e\u3059\u304c\u3001\u307e\u308c\u306b4\u6b73\u9803\u307e\u3067\u304b\u304b\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>:<br>\u5831\u544a\u4f8b\u306e\u591a\u304f\u3067\u4e2d\u7b49\u5ea6\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8a00\u8449\u306e\u9045\u308c:<br>\u7279\u306b\u300c\u8a00\u8449\u3092\u8a71\u3059\u3053\u3068\uff08\u8868\u51fa\u8a00\u8a9e\uff09\u300d\u304c\u82e6\u624b\u306a\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002\u3057\u304b\u3057\u3001\u3053\u3061\u3089\u306e\u8a00\u3063\u3066\u3044\u308b\u3053\u3068\u306f\u3088\u304f\u7406\u89e3\u3057\u3066\u3044\u308b\uff08\u53d7\u5bb9\u8a00\u8a9e\u304c\u826f\u3044\uff09\u3053\u3068\u304c\u591a\u304f\u3001\u30b8\u30a7\u30b9\u30c1\u30e3\u30fc\u306a\u3069\u3067\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u3092\u53d6\u308d\u3046\u3068\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E8%A1%8C%E5%8B%95%E3%83%BB%E7%89%B9%E6%80%A7%E3%81%AE%E7%89%B9%E5%BE%B4\"><\/span><strong>3. \u884c\u52d5\u30fb\u7279\u6027\u306e\u7279\u5fb4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>PTLS\u306e\u304a\u5b50\u69d8\u306b\u306f\u3001\u3044\u304f\u3064\u304b\u306e\u7279\u5fb4\u7684\u306a\u884c\u52d5\u30d1\u30bf\u30fc\u30f3\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u6d77\u5916\u306e\u5c0f\u898f\u6a21\u306a\u30b3\u30db\u30fc\u30c8\u7814\u7a76\uff08Treadwell-Deering\u30892010\u5e74\uff09\u3067\u306f\u3001\u8a55\u4fa1\u5c3a\u5ea6\uff08ADI-R\u3001ADOS-G\uff09\u3092\u7528\u3044\u305f\u691c\u8a0e\u3067\u3001\u5bfe\u8c61\u5150\u306e\u7d046\u5272\u304cASD\u306e\u8a3a\u65ad\u57fa\u6e96\u3092\u6e80\u305f\u3057\u305f\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7<\/a>\uff08ASD\uff09\u306e\u7279\u6027:<br>\u3053\u3060\u308f\u308a\u304c\u5f37\u3044\u3001\u8996\u7dda\u304c\u5408\u3044\u306b\u304f\u3044\u3001\u4e00\u4eba\u904a\u3073\u3092\u597d\u3080\u3001\u7279\u5b9a\u306e\u97f3\u3084\u611f\u89e6\u306b\u654f\u611f\u3068\u3044\u3063\u305f\u7279\u6027\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u4e0d\u5b89\u75c7\u30fb\u591a\u52d5\u50be\u5411:<br>\u65b0\u3057\u3044\u5834\u6240\u3084\u5909\u5316\u306b\u5bfe\u3057\u3066\u5f37\u3044\u4e0d\u5b89\u3092\u611f\u3058\u305f\u308a\u3001\u6ce8\u610f\u529b\u304c\u6563\u6f2b\u3067\u843d\u3061\u7740\u304d\u304c\u306a\u304b\u3063\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u7761\u7720\u6642\u306e\u547c\u5438\u306e\u4e71\u308c:<br>\u30b9\u30df\u30b9\u30fb\u30de\u30ae\u30cb\u30b9\u75c7\u5019\u7fa4\u307b\u3069\u91cd\u7be4\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u7761\u7720\u691c\u67fb\u3067\u306f\u8efd\u5ea6\u306e\u4e2d\u67a2\u6027\u30fb\u9589\u585e\u6027\u306e\u7121\u547c\u5438\u304c\u898b\u3064\u304b\u308b\u3053\u3068\u304c\u5c11\u306a\u304f\u3042\u308a\u307e\u305b\u3093\u3002\u3044\u3073\u304d\u3084\u65e5\u4e2d\u306e\u591a\u52d5\u3068\u3057\u3066\u6c17\u3065\u304b\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E8%BA%AB%E4%BD%93%E7%9A%84%E3%81%AA%E7%89%B9%E5%BE%B4\"><\/span><strong>4. \u8eab\u4f53\u7684\u306a\u7279\u5fb4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u300cPTLS\u7279\u6709\u306e\u304a\u9854\u300d\u3068\u3044\u3046\u307b\u3069\u5f37\u3044\u7279\u5fb4\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u6ce8\u610f\u6df1\u304f\u898b\u308b\u3068\u5171\u901a\u3057\u3084\u3059\u3044\u50be\u5411\u306f\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u304a\u9854\u306e\u7279\u5fb4: \u304a\u3067\u3053\u304c\u5e83\u3044\u3001\u307e\u305f\u306f\u56db\u89d2\u3044\uff0f\u9006\u4e09\u89d2\u5f62\u306e\u304a\u9854\u7acb\u3061\uff08\u3042\u3054\u304c\u5c0f\u3055\u3044\uff09\uff0f\u76ee\u304c\u5c11\u3057\u96e2\u308c\u3066\u3044\u308b\uff08\u773c\u9593\u958b\u96e2\uff09\uff0f\u9f3b\u5148\u304c\u4e0b\u3092\u5411\u3044\u3066\u3044\u308b\u3002\u3053\u308c\u3089\u306f\u6210\u9577\u3068\u3068\u3082\u306b\u5909\u5316\u3057\u3001\u305d\u306e\u5b50\u3089\u3057\u3044\u500b\u6027\u306b\u99b4\u67d3\u3093\u3067\u3044\u304d\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u773c\u30fb\u8033\u306e\u6240\u898b: \u9060\u8996\uff08\u773c\u93e1\u304c\u5fc5\u8981\u306b\u306a\u308b\u307b\u3069\u3067\u306f\u306a\u3044\u3053\u3068\u304c\u591a\u3044\uff09\u3084\u3001\u8efd\u5ea6\u306e\u9ad8\u97f3\u57df\u306e\u611f\u97f3\u6027\u96e3\u8074\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"5_%E3%81%9D%E3%81%AE%E4%BB%96%E3%81%AE%E5%90%88%E4%BD%B5%E7%97%87\"><\/span><strong>5. \u305d\u306e\u4ed6\u306e\u5408\u4f75\u75c7<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3059\u3079\u3066\u306e\u60a3\u8005\u3055\u3093\u306b\u3042\u308b\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u6ce8\u610f\u304c\u5fc5\u8981\u306a\u5408\u4f75\u75c7\u3067\u3059\u3002\u6d77\u5916\u306e\u5831\u544a\u3067\u306f\u3001\u5fc3\u8840\u7ba1\u7cfb\u306e\u7570\u5e38\u304c\u7d044\u5272\u306e\u60a3\u8005\u3055\u3093\u306b\u898b\u3089\u308c\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5148\u5929\u6027\u5fc3\u75be\u60a3:<br>\u5fc3\u623f\u4e2d\u9694\u6b20\u640d\u75c7\uff08ASD\uff09\u3084\u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d\u75c7\uff08VSD\uff09\u306e\u307b\u304b\u3001\u5927\u52d5\u8108\u5f01\u3084\u5de6\u5fc3\u7cfb\u306e\u69cb\u9020\u7570\u5e38\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u814e\u81d3\u306e\u7570\u5e38:<br>\u814e\u81d3\u306e\u4f4e\u5f62\u6210\u3084\u3001\u591a\u56a2\u80de\u6027\u7570\u5f62\u6210\u814e\u3001\u6c34\u814e\u75c7\u306a\u3069\u3002<\/li>\n\n\n\n<li>\u6b6f\u79d1\u7684\u554f\u984c:<br>\u6b6f\u4e26\u3073\u304c\u60aa\u3044\uff08\u54ac\u5408\u4e0d\u5168\uff09\u3001\u6b6f\u306e\u751f\u3048\u65b9\u304c\u7aae\u5c48\u306b\u306a\u308a\u3084\u3059\u3044\u306a\u3069\u3002<\/li>\n<\/ul>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"640\" height=\"426\" src=\"\/nipt\/wp-content\/uploads\/2026\/01\/4212041_s.webp\" alt=\"\u8d64\u3061\u3083\u3093\" class=\"wp-image-121821\"\/><\/figure><\/div>\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E5%8E%9F%E5%9B%A0%EF%BC%9A%E3%81%AA%E3%81%9C%E8%B5%B7%E3%81%8D%E3%81%9F%E3%81%AE%E3%81%8B\"><\/span><strong>3. \u539f\u56e0\uff1a\u306a\u305c\u8d77\u304d\u305f\u306e\u304b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>PTLS\u306e\u5927\u591a\u6570\u306f\u3001\u5076\u767a\u7684\u306a\u65b0\u898f\u5909\u7570\uff08de novo\u5909\u7570\uff09\u3067\u8d77\u3053\u308a\u3001\u5e38\u67d3\u8272\u4f53\u9855\u6027\u907a\u4f1d\u306e\u5f62\u5f0f\u3092\u3068\u308a\u307e\u3059\u3002<\/strong>\u3054\u5bb6\u65cf\u304c\u300c\u306a\u305c\uff1f\u300d\u3068\u60a9\u307f\u3001\u6642\u306b\u3054\u81ea\u8eab\u3092\u8cac\u3081\u3066\u3057\u307e\u3046\u306e\u304c\u300c\u539f\u56e0\u300d\u306b\u3064\u3044\u3066\u3067\u3059\u3002\u3057\u304b\u3057\u3001\u58f0\u3092\u5927\u306b\u3057\u3066\u304a\u4f1d\u3048\u3057\u305f\u3044\u306e\u306f\u3001\u300c\u3054\u4e21\u89aa\u306e\u80b2\u3066\u65b9\u3084\u598a\u5a20\u4e2d\u306e\u904e\u3054\u3057\u65b9\u304c\u539f\u56e0\u3067\u306f\u306a\u3044\u300d\u3068\u3044\u3046\u3053\u3068\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E7%AA%81%E7%84%B6%E5%A4%89%E7%95%B0%EF%BC%88de_novo%E5%A4%89%E7%95%B0%EF%BC%89\"><\/span><strong>1. \u7a81\u7136\u5909\u7570\uff08de novo\u5909\u7570\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>PTLS\u306e\u5927\u591a\u6570\u306f\u3001\u300cde novo\uff08\u30c7\u30fb\u30ce\u30dc\uff09\u300d\u3068\u547c\u3070\u308c\u308b\u7a81\u7136\u5909\u7570\u3067\u8d77\u3053\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7cbe\u5b50\u3084\u5375\u5b50\u304c\u4f5c\u3089\u308c\u308b\u904e\u7a0b\uff08\u6e1b\u6570\u5206\u88c2\uff09\u3067\u3001\u67d3\u8272\u4f53\u306e\u7d44\u63db\u3048\u3068\u3044\u3046\u73fe\u8c61\u304c\u8d77\u304d\u307e\u3059\u300217p11.2\u9818\u57df\u306f\u3001\u69cb\u9020\u7684\u306b\u300c\u4f3c\u305f\u3088\u3046\u306a\u914d\u5217\u300d\u304c\u7e70\u308a\u8fd4\u3055\u308c\u3066\u3044\u308b\u305f\u3081\u3001\u30b3\u30d4\u30fc\u30df\u30b9\uff08\u305a\u308c\u3066\u304f\u3063\u3064\u3044\u3066\u3057\u307e\u3046\u3053\u3068\uff09\u304c\u8d77\u304d\u3084\u3059\u3044\u5834\u6240\u306a\u306e\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u308c\u306f\u8ab0\u306b\u3067\u3082\u8d77\u3053\u308a\u3046\u308b\u3001\u81ea\u7136\u306e\u78ba\u7387\u7684\u306a\u73fe\u8c61\u3067\u3059\u3002\u9632\u3050\u3053\u3068\u306f\u3001\u73fe\u4ee3\u306e\u533b\u5b66\u3067\u306f\u4e0d\u53ef\u80fd\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E8%A6%AA%E3%81%AE%E6%9F%93%E8%89%B2%E4%BD%93%E8%BB%A2%E5%BA%A7%EF%BC%88%E3%81%BE%E3%82%8C%E3%81%AA%E3%82%B1%E3%83%BC%E3%82%B9%EF%BC%89\"><\/span><strong>2. \u89aa\u306e\u67d3\u8272\u4f53\u8ee2\u5ea7\uff08\u307e\u308c\u306a\u30b1\u30fc\u30b9\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3054\u304f\u4e00\u90e8\u306e\u30b1\u30fc\u30b9\u3067\u306f\u3001\u3054\u4e21\u89aa\u306e\u3069\u3061\u3089\u304b\u304c\u300c\u5747\u8861\u578b\u8ee2\u5ea7\u300d\u306a\u3069\u306e\u67d3\u8272\u4f53\u5909\u5316\u3092\u6301\u3063\u3066\u3044\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u203b\u6b21\u306e\u304a\u5b50\u69d8\u3092\u8003\u3048\u3066\u3044\u308b\u5834\u5408\u306a\u3069\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u78ba\u8a8d\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E9%87%8D%E8%A6%81%E9%81%BA%E4%BC%9D%E5%AD%90%EF%BC%9ARAI1%E3%81%AE%E5%BD%B9%E5%89%B2\"><\/span><strong>3. \u91cd\u8981\u907a\u4f1d\u5b50\uff1aRAI1\u306e\u5f79\u5272<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3053\u306e\u9818\u57df\u306e\u91cd\u8907\u306b\u3088\u308b\u75c7\u72b6\u306e\u4e3b\u306a\u539f\u56e0\u306f\u3001RAI1\uff08\u30e9\u30a4\u30fb\u30ef\u30f3\uff09\u907a\u4f1d\u5b50\u306e\u904e\u5270\u3060\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002RAI1\u907a\u4f1d\u5b50\u306f\u3001\u4f53\u5185\u6642\u8a08\uff08\u6982\u65e5\u30ea\u30ba\u30e0\uff09\u306e\u8abf\u6574\u3084\u3001\u8133\u306e\u767a\u9054\u3001\u80a5\u6e80\u306e\u5236\u5fa1\u306a\u3069\u306b\u95a2\u308f\u308b\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u3067\u3059\u3002<\/p>\n\n\n\n<figure class=\"wp-block-table\"><table class=\"has-fixed-layout\"><thead><tr><th>\u5909\u5316<\/th><th>RAI1\u907a\u4f1d\u5b50\u306e\u72b6\u614b<\/th><th>\u4ee3\u8868\u7684\u306a\u75c7\u72b6\u306e\u50be\u5411<\/th><\/tr><\/thead><tbody><tr><td>\u6b20\u5931\uff08\u30b9\u30df\u30b9\u30fb\u30de\u30ae\u30cb\u30b9\u75c7\u5019\u7fa4\uff09<\/td><td>RAI1\u304c\u8db3\u308a\u306a\u3044<\/td><td>\u7761\u7720\u30ea\u30ba\u30e0\u306e\u9006\u8ee2\u3001\u80a5\u6e80\u50be\u5411\u3001\u81ea\u50b7\u884c\u70ba<\/td><\/tr><tr><td>\u91cd\u8907\uff08PTLS\uff09<\/td><td>RAI1\u304c\u591a\u3044<\/td><td>\u4f4e\u4f53\u91cd\u30fb\u54fa\u4e73\u969c\u5bb3\u3001\u767a\u9054\u9045\u6ede\u3001ASD\u50be\u5411<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<p>\u907a\u4f1d\u5b50\u306e\u91cf\u304c\u300c\u591a\u3044\u300d\u304b\u300c\u5c11\u306a\u3044\u300d\u304b\u306b\u3088\u3063\u3066\u3001\u6b63\u53cd\u5bfe\u306b\u8fd1\u3044\u75c7\u72b6\u304c\u73fe\u308c\u308b\u3002RAI1\u907a\u4f1d\u5b50\u306e\u91cf\u7684\u306a\u7e4a\u7d30\u3055\u3092\u7269\u8a9e\u308b\u4e8b\u5b9f\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E8%A8%BA%E6%96%AD%E3%81%A8%E6%A4%9C%E6%9F%BB%E3%81%AE%E6%B5%81%E3%82%8C\"><\/span><strong>4. \u8a3a\u65ad\u3068\u691c\u67fb\u306e\u6d41\u308c<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u78ba\u5b9a\u8a3a\u65ad\u306b\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09\u304c\u7528\u3044\u3089\u308c\u3001\u3042\u308f\u305b\u3066\u5fc3\u81d3\u30fb\u814e\u81d3\u30fb\u7761\u7720\u306a\u3069\u306e\u8a55\u4fa1\u3082\u884c\u3044\u307e\u3059\u3002<\/strong>\u901a\u5e38\u3001\u4e73\u5150\u671f\u306e\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3084\u54fa\u4e73\u969c\u5bb3\u3001\u767a\u9054\u306e\u9045\u308c\u3001\u5fc3\u75be\u60a3\u306a\u3069\u304b\u3089\u533b\u5e2b\u304c\u7591\u3044\u3092\u6301\u3061\u3001\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u3092\u884c\u3046\u3053\u3068\u3067\u78ba\u5b9a\u8a3a\u65ad\u306b\u81f3\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E3%83%9E%E3%82%A4%E3%82%AF%E3%83%AD%E3%82%A2%E3%83%AC%E3%82%A4%E6%9F%93%E8%89%B2%E4%BD%93%E6%A4%9C%E6%9F%BB%EF%BC%88CMA%EF%BC%89\"><\/span><strong>1. \u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u73fe\u5728\u3001\u3053\u306e\u75c7\u5019\u7fa4\u306e\u78ba\u5b9a\u8a3a\u65ad\u306b\u6700\u3082\u63a8\u5968\u3055\u308c\u308b\u691c\u67fb\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u5f93\u6765\u306e\u9855\u5fae\u93e1\u691c\u67fb\uff08G\u5206\u67d3\u6cd5\uff09\u3067\u306f\u300117p11.2\u306e\u3088\u3046\u306a\u5fae\u7d30\u306a\u91cd\u8907\u306f\u898b\u9003\u3055\u308c\u3066\u3057\u307e\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3057\u305f\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u691c\u67fb\u306f\u3001DNA\u30ec\u30d9\u30eb\u3067\u67d3\u8272\u4f53\u306e\u91cf\u3092\u8abf\u3079\u308b\u305f\u3081\u3001\u300c17p11.2\u304c\u5897\u3048\u3066\u3044\u308b\u300d\u300cRAI1\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u308b\u300d\u3068\u3044\u3063\u305f\u6b63\u78ba\u306a\u8a3a\u65ad\u304c\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_FISH%E6%B3%95\"><\/span><strong>2. FISH\u6cd5<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u7279\u5b9a\u306e\u5834\u6240\uff0817p11.2\uff09\u304c\u5897\u3048\u3066\u3044\u308b\u304b\u3069\u3046\u304b\u3092\u3001\u86cd\u5149\u8272\u7d20\u3092\u4f7f\u3063\u3066\u30d4\u30f3\u30dd\u30a4\u30f3\u30c8\u3067\u8abf\u3079\u308b\u691c\u67fb\u3067\u3059\u3002PTLS\u306e\u7591\u3044\u304c\u5f37\u3044\u5834\u5408\u306b\u884c\u308f\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E8%A8%BA%E6%96%AD%E5%BE%8C%E3%81%AB%E6%8E%A8%E5%A5%A8%E3%81%95%E3%82%8C%E3%82%8B%E8%A9%95%E4%BE%A1\"><\/span><strong>3. \u8a3a\u65ad\u5f8c\u306b\u63a8\u5968\u3055\u308c\u308b\u8a55\u4fa1<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8a3a\u65ad\u304c\u78ba\u5b9a\u3057\u305f\u5f8c\u306f\u3001\u5408\u4f75\u75c7\u306e\u6709\u7121\u3092\u78ba\u8a8d\u3059\u308b\u305f\u3081\u3001\u8907\u6570\u306e\u9818\u57df\u306b\u308f\u305f\u308b\u8a55\u4fa1\u304c\u3059\u3059\u3081\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<figure class=\"wp-block-table\"><table class=\"has-fixed-layout\"><thead><tr><th>\u9818\u57df<\/th><th>\u8a55\u4fa1\u5185\u5bb9<\/th><\/tr><\/thead><tbody><tr><td>\u6210\u9577<\/td><td>\u4f53\u91cd\u30fb\u8eab\u9577\u306e\u7d4c\u904e\u78ba\u8a8d\u3002\u54fa\u4e73\u969c\u5bb3\u304c\u3042\u308c\u3070\u56a5\u4e0b\u6a5f\u80fd\u8a55\u4fa1<\/td><\/tr><tr><td>\u5faa\u74b0\u5668<\/td><td>\u5fc3\u96fb\u56f3\u30fb\u5fc3\u81d3\u8d85\u97f3\u6ce2\uff08\u30a8\u30b3\u30fc\uff09\u691c\u67fb<\/td><\/tr><tr><td>\u773c\u79d1<\/td><td>\u659c\u8996\u30fb\u5c48\u6298\u7570\u5e38\uff08\u9060\u8996\u306a\u3069\uff09\u306e\u78ba\u8a8d<\/td><\/tr><tr><td>\u8033\u9f3b\u79d1\u30fb\u6b6f\u79d1<\/td><td>\u8074\u529b\u691c\u67fb\u3001\u7761\u7720\u6642\u7121\u547c\u5438\u306e\u8a55\u4fa1\u3001\u6b6f\u4e26\u3073\u306e\u78ba\u8a8d<\/td><\/tr><tr><td>\u814e\u81d3<\/td><td>\u814e\u81d3\u30a8\u30b3\u30fc\u306b\u3088\u308b\u5f62\u614b\u78ba\u8a8d<\/td><\/tr><tr><td>\u767a\u9054\u30fb\u884c\u52d5<\/td><td>\u767a\u9054\u5c02\u9580\u533b\u306b\u3088\u308b\u5b9a\u671f\u8a55\u4fa1\u3001\u884c\u52d5\u9762\u306e\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<p>\u3044\u3073\u304d\u3084\u7121\u547c\u5438\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u7761\u7720\u691c\u67fb\uff08\u30dd\u30ea\u30bd\u30e0\u30ce\u30b0\u30e9\u30d5\u30a3\uff09\u3092\u884c\u3046\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"5_%E6%B2%BB%E7%99%82%E3%81%A8%E7%AE%A1%E7%90%86%EF%BC%9A%E3%81%93%E3%82%8C%E3%81%8B%E3%82%89%E3%81%AE%E3%83%AD%E3%83%BC%E3%83%89%E3%83%9E%E3%83%83%E3%83%97\"><\/span><strong>5. \u6cbb\u7642\u3068\u7ba1\u7406\uff1a\u3053\u308c\u304b\u3089\u306e\u30ed\u30fc\u30c9\u30de\u30c3\u30d7<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u91cd\u8907\u3057\u305f\u67d3\u8272\u4f53\u305d\u306e\u3082\u306e\u3092\u53d6\u308a\u9664\u304f\u6839\u672c\u6cbb\u7642\u306f\u307e\u3060\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u75c7\u72b6\u306b\u5fdc\u3058\u305f\u5bfe\u75c7\u7642\u6cd5\u3068\u65e9\u671f\u7642\u80b2\u3067\u751f\u6d3b\u306e\u8cea\u3092\u5927\u304d\u304f\u9ad8\u3081\u3089\u308c\u307e\u3059\u3002<\/strong><\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E6%97%A9%E6%9C%9F%E7%99%82%E8%82%B2%EF%BC%88%E3%83%8F%E3%83%93%E3%83%AA%E3%83%86%E3%83%BC%E3%82%B7%E3%83%A7%E3%83%B3%EF%BC%89\"><\/span><strong>1. \u65e9\u671f\u7642\u80b2\uff08\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8133\u3084\u4f53\u306e\u767a\u9054\u304c\u8457\u3057\u3044\u4e73\u5e7c\u5150\u671f\u304b\u3089\u306e\u95a2\u308f\u308a\u304c\u975e\u5e38\u306b\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u7406\u5b66\u7642\u6cd5\uff08PT\uff09:<br>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08\u4f53\u306e\u67d4\u3089\u304b\u3055\uff09\u306b\u5bfe\u3057\u3066\u30a2\u30d7\u30ed\u30fc\u30c1\u3057\u307e\u3059\u3002\u4f53\u5e79\u3092\u935b\u3048\u3001\u304a\u5ea7\u308a\u3084\u6b69\u884c\u306b\u5fc5\u8981\u306a\u30d0\u30e9\u30f3\u30b9\u611f\u899a\u3092\u80b2\u3066\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09:<br>\u624b\u5148\u306e\u4e0d\u5668\u7528\u3055\u3092\u6539\u5584\u3057\u3001\u304a\u3082\u3061\u3083\u3067\u904a\u3076\u3001\u30b9\u30d7\u30fc\u30f3\u3092\u6301\u3064\u306a\u3069\u306e\u65e5\u5e38\u751f\u6d3b\u52d5\u4f5c\u3092\u7df4\u7fd2\u3057\u307e\u3059\u3002\u611f\u899a\u904e\u654f\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u611f\u899a\u7d71\u5408\u7642\u6cd5\u3092\u53d6\u308a\u5165\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09:<br>\u8a00\u8449\u306e\u9045\u308c\u306b\u5bfe\u3057\u3066\u3001\u7406\u89e3\u3084\u8868\u51fa\u3092\u4fc3\u3059\u30c8\u30ec\u30fc\u30cb\u30f3\u30b0\u3092\u884c\u3044\u307e\u3059\u3002PTLS\u306e\u304a\u5b50\u69d8\u306f\u3001\u8a00\u8449\u304c\u51fa\u308b\u307e\u3067\u306b\u6642\u9593\u304c\u304b\u304b\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u300c\u30b5\u30a4\u30f3\uff08\u624b\u8a71\uff09\u300d\u3084\u300c\u7d75\u30ab\u30fc\u30c9\u300d\u300c\u30bf\u30d6\u30ec\u30c3\u30c8\u7aef\u672b\u300d\u3092\u4f7f\u3046\u3068\u3001\u30b9\u30e0\u30fc\u30ba\u306b\u610f\u601d\u758e\u901a\u304c\u3067\u304d\u308b\u3088\u3046\u306b\u306a\u308b\u30b1\u30fc\u30b9\u304c\u591a\u3044\u3067\u3059\u3002\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u624b\u6bb5\u3092\u78ba\u4fdd\u3059\u308b\u3053\u3068\u306f\u3001\u304b\u3093\u3057\u3083\u304f\u3092\u6e1b\u3089\u3059\u305f\u3081\u306b\u3082\u6709\u52b9\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E6%A0%84%E9%A4%8A%E3%81%A8%E9%A3%9F%E4%BA%8B%E3%81%AE%E7%AE%A1%E7%90%86\"><\/span><strong>2. \u6804\u990a\u3068\u98df\u4e8b\u306e\u7ba1\u7406<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u300c\u4f53\u91cd\u304c\u5897\u3048\u306a\u3044\u300d\u3053\u3068\u306f\u3001\u89aa\u5fa1\u3055\u3093\u306b\u3068\u3063\u3066\u5927\u304d\u306a\u30b9\u30c8\u30ec\u30b9\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u9ad8\u30ab\u30ed\u30ea\u30fc\u98df: \u533b\u5e2b\u3084\u6804\u990a\u58eb\u3068\u76f8\u8ac7\u3057\u3001\u9ad8\u30ab\u30ed\u30ea\u30fc\u306e\u30df\u30eb\u30af\u3084\u6804\u990a\u5264\u3092\u4f7f\u7528\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6442\u98df\u6307\u5c0e: \u565b\u3080\u529b\u3084\u98f2\u307f\u8fbc\u3080\u529b\u306b\u5408\u308f\u305b\u305f\u98df\u4e8b\u5f62\u614b\uff08\u3068\u308d\u307f\u3001\u30da\u30fc\u30b9\u30c8\u306a\u3069\uff09\u3092\u5de5\u592b\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E5%90%88%E4%BD%B5%E7%97%87%E3%81%AE%E7%AE%A1%E7%90%86\"><\/span><strong>3. \u5408\u4f75\u75c7\u306e\u7ba1\u7406<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5fc3\u75be\u60a3: \u624b\u8853\u304c\u5fc5\u8981\u306a\u5834\u5408\u306f\u3001\u9069\u5207\u306a\u6642\u671f\u306b\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u7761\u7720\u6642\u7121\u547c\u5438: \u6241\u6843\u817a\u306e\u624b\u8853\u3084\u3001CPAP\uff08\u30b7\u30fc\u30d1\u30c3\u30d7\uff09\u306a\u3069\u306e\u6cbb\u7642\u3092\u884c\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u7761\u7720\u306e\u8cea\u3092\u4e0a\u3052\u308b\u3053\u3068\u306f\u3001\u65e5\u4e2d\u306e\u767a\u9054\u3084\u6a5f\u5acc\u306e\u826f\u3055\u306b\u3064\u306a\u304c\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6210\u9577\u30db\u30eb\u30e2\u30f3: \u5206\u6ccc\u4e0d\u5168\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u30db\u30eb\u30e2\u30f3\u88dc\u5145\u7642\u6cd5\u3092\u884c\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"6_%E6%97%A5%E3%80%85%E3%81%AE%E7%94%9F%E6%B4%BB%E3%81%A7%E3%81%AE%E5%B7%A5%E5%A4%AB\"><\/span><strong>6. \u65e5\u3005\u306e\u751f\u6d3b\u3067\u306e\u5de5\u592b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u3067\u304d\u306a\u3044\u3053\u3068\u3092\u6570\u3048\u308b\u3088\u308a\u3001\u305d\u306e\u5b50\u306a\u3089\u3067\u306f\u306e\u5f97\u610f\u3092\u898b\u3064\u3051\u3066\u4f38\u3070\u3059\u95a2\u308f\u308a\u304c\u3001\u81ea\u5df1\u80af\u5b9a\u611f\u3092\u80b2\u3066\u307e\u3059\u3002<\/strong>17p\u91cd\u8907\u75c7\u5019\u7fa4\u306e\u304a\u5b50\u69d8\u3068\u306e\u751f\u6d3b\u3067\u3001\u30d2\u30f3\u30c8\u306b\u306a\u308b\u30dd\u30a4\u30f3\u30c8\u3092\u307e\u3068\u3081\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u300c\u5f97\u610f\u300d\u3092\u898b\u3064\u3051\u308b:<br>\u8a00\u8449\u306f\u82e6\u624b\u3067\u3082\u3001\u30d1\u30ba\u30eb\u304c\u5f97\u610f\u3060\u3063\u305f\u308a\u3001\u97f3\u697d\u304c\u5927\u597d\u304d\u3060\u3063\u305f\u308a\u3001\u4e00\u5ea6\u901a\u3063\u305f\u9053\u3092\u899a\u3048\u3066\u3044\u305f\u308a\u3068\u3001\u305d\u306e\u5b50\u306a\u3089\u3067\u306f\u306e\u5f37\u307f\u304c\u3042\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u8996\u899a\u7684\u306a\u652f\u63f4:<br>\u300c\u7247\u4ed8\u3051\u306a\u3055\u3044\u300d\u3068\u8a00\u8449\u3067\u8a00\u3046\u3088\u308a\u3001\u7247\u4ed8\u3044\u305f\u72b6\u614b\u306e\u5199\u771f\u3092\u898b\u305b\u305f\u308a\u3001\u30b9\u30b1\u30b8\u30e5\u30fc\u30eb\u306e\u7d75\u30ab\u30fc\u30c9\u3092\u4f7f\u3063\u305f\u308a\u3059\u308b\u65b9\u304c\u4f1d\u308f\u308a\u3084\u3059\u3044\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002ASD\u7279\u6027\u304c\u3042\u308b\u5834\u5408\u3001\u8996\u899a\u60c5\u5831\u306f\u3068\u3066\u3082\u5f37\u3044\u5473\u65b9\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u30b9\u30e2\u30fc\u30eb\u30b9\u30c6\u30c3\u30d7:<br>\u6bcd\u5b50\u624b\u5e33\u306e\u300c\u306f\u3044\u30fb\u3044\u3044\u3048\u300d\u306b\u3053\u3060\u308f\u3089\u305a\u3001\u305d\u306e\u5b50\u81ea\u8eab\u306e\u904e\u53bb\u3068\u73fe\u5728\u3092\u6bd4\u3079\u3066\u304f\u3060\u3055\u3044\u3002\u300c\u6628\u65e5\u3088\u308a\u30b9\u30d7\u30fc\u30f3\u304c\u4e0a\u624b\u306b\u6301\u3066\u305f\u300d\u300c\u30d0\u30a4\u30d0\u30a4\u304c\u3067\u304d\u305f\u300d\u3002\u305d\u306e\u5c0f\u3055\u306a\u6210\u9577\u3092\u898b\u9003\u3055\u305a\u3001\u305f\u304f\u3055\u3093\u8912\u3081\u3066\u3042\u3052\u3066\u304f\u3060\u3055\u3044\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"7_%E4%BC%BC%E3%81%9F%E5%90%8D%E5%89%8D%E3%81%AE%E7%96%BE%E6%82%A3%E3%81%A8%E3%81%AE%E9%81%95%E3%81%84%EF%BC%88%E8%A1%A8%E3%81%A7%E6%95%B4%E7%90%86%EF%BC%89\"><\/span><strong>7. \u4f3c\u305f\u540d\u524d\u306e\u75be\u60a3\u3068\u306e\u9055\u3044\uff08\u8868\u3067\u6574\u7406\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u300c17p\u300d\u304b\u3089\u59cb\u307e\u308b\u75be\u60a3\u306f\u8907\u6570\u3042\u308a\u3001\u91cd\u8907\u304b\u6b20\u5931\u304b\u3001\u5834\u6240\u304c11.2\u304b12\u304b\u306b\u3088\u3063\u3066\u75c7\u72b6\u304c\u5927\u304d\u304f\u7570\u306a\u308a\u307e\u3059\u3002<\/strong>\u8a3a\u65ad\u66f8\u306b\u66f8\u304b\u308c\u305f\u540d\u79f0\u3092\u898b\u6bd4\u3079\u308b\u969b\u306e\u53c2\u8003\u306b\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<figure class=\"wp-block-table\"><table class=\"has-fixed-layout\"><thead><tr><th>\u75be\u60a3\u540d<\/th><th>\u67d3\u8272\u4f53\u306e\u5909\u5316<\/th><th>\u4e3b\u306a\u539f\u56e0\u907a\u4f1d\u5b50<\/th><th>\u75c7\u72b6\u306e\u50be\u5411<\/th><\/tr><\/thead><tbody><tr><td>17p11.2\u91cd\u8907\u75c7\u5019\u7fa4\uff08PTLS\uff09<\/td><td>\u91cd\u8907<\/td><td>RAI1<\/td><td>\u767a\u9054\u9045\u6ede\u3001ASD\u50be\u5411\u3001\u54fa\u4e73\u969c\u5bb3<\/td><\/tr><tr><td>\u30b9\u30df\u30b9\u30fb\u30de\u30ae\u30cb\u30b9\u75c7\u5019\u7fa4\uff08SMS\uff09<\/td><td>\u6b20\u5931<\/td><td>RAI1<\/td><td>\u91cd\u5ea6\u306e\u7761\u7720\u969c\u5bb3\u3001\u81ea\u50b7\u884c\u70ba\u3001\u80a5\u6e80\u50be\u5411<\/td><\/tr><tr><td>17p12\u91cd\u8907\u75c7\u5019\u7fa4\uff08CMT1A\u95a2\u9023\uff09<\/td><td>\u91cd\u8907<\/td><td>PMP22<\/td><td>\u624b\u8db3\u306e\u3057\u3073\u308c\u30fb\u8131\u529b\u306a\u3069\u672b\u68a2\u795e\u7d4c\u306e\u75c7\u72b6<\/td><\/tr><tr><td>YUHAL\u75c7\u5019\u7fa4<\/td><td>17p12-p11.2\u306e\u5e83\u7bc4\u56f2\u91cd\u8907<\/td><td>PMP22+RAI1<\/td><td>PTLS\u3068CMT1A\u3001\u4e21\u65b9\u306e\u7279\u5fb4\u3092\u4f75\u305b\u6301\u3064<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<p>YUHAL\u75c7\u5019\u7fa4\u306f\u3001PMP22\u3068RAI1\u306e\u4e21\u65b9\u3092\u542b\u3080\u5e83\u3044\u7bc4\u56f2\u304c\u91cd\u8907\u3059\u308b\u3053\u3068\u3067\u8d77\u3053\u308b\u3001\u3088\u308a\u8907\u96d1\u306a\u795e\u7d4c\u767a\u9054\u75c7\u3067\u3059\uff08Yuan\u30892015\u5e74\u306e\u5831\u544a\uff09\u3002\u305d\u308c\u305e\u308c\u306e\u8a73\u7d30\u306f\u500b\u5225\u8a18\u4e8b\u3067\u3082\u89e3\u8aac\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/17p12-duplication-syndrome\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">17p12 \u91cd\u8907\u75c7\u5019\u7fa4 <\/div>\n          <div class=\"blog-card-excerpt\">17p12\u91cd\u8907\u75c7\u5019\u7fa4\u306f\u3001\u767a\u9054\u9045\u5ef6\u3084\u77e5\u7684\u969c\u5bb3\u3001\u884c\u52d5\u7570\u5e38\u3092\u5f15\u304d\u8d77\u3053\u3059\u907a\u4f1d\u7684\u75be\u60a3\u3067\u3059\u3002\u9069\u5207\u306a\u652f\u63f4\u3068\u7642\u80b2\u306b\u3088\u308a\u751f\u6d3b\u306e\u8cea\u3092\u5411\u4e0a\u3055\u305b\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u304c\u3001...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n    <a href=\"\/nipt\/17p12-deletion-syndrome-charcot-marie-tooth-disease-type-1a\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">17p12 \u6b20\u5931\u75c7\u5019\u7fa4 (\u30b7\u30e3\u30eb\u30b3\u30fc\u30fb\u30de\u30ea\u30fc\u30fb\u30c8\u30a5\u30fc\u30b9\u75c51A\u578b) <\/div>\n          <div class=\"blog-card-excerpt\">17p12\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u3001\u30b7\u30e3\u30eb\u30b3\u30fc\u30fb\u30de\u30ea\u30fc\u30fb\u30c8\u30a5\u30fc\u30b9\u75c51A\u578b\u3092\u5f15\u304d\u8d77\u3053\u3059\u907a\u4f1d\u7684\u75be\u60a3\u3067\u3059\u3002\u7b4b\u529b\u4f4e\u4e0b\u3084\u611f\u899a\u7570\u5e38\u3001\u8db3\u306e\u5909\u5f62\u304c\u4e3b\u306a\u75c7\u72b6\u3067\u3001\u9032\u884c\u6027\u3067\u3059...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n    <a href=\"\/nipt\/chromosome-17p13-3-duplication-syndrome\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">17p13.3\u91cd\u8907\u75c7\u5019\u7fa4 <\/div>\n          <div class=\"blog-card-excerpt\">\u67d3\u8272\u4f5317p13.3\u91cd\u8907\u75c7\u5019\u7fa4\u3068\u8a3a\u65ad\u3055\u308c\u305f\u3054\u5bb6\u65cf\u3078\u3002\u3053\u306e\u75be\u60a3\u306e\u539f\u56e0\u3068\u306a\u308bYWHAE\u907a\u4f1d\u5b50\u3084LIS1\u907a\u4f1d\u5b50\u306e\u91cd\u8907\u306b\u3088\u308b\u75c7\u72b6\uff08\u767a\u9054\u9045\u6ede\u3001\u81ea\u9589\u30b9\u30da...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"8_%E5%A6%8A%E5%A8%A0%E4%B8%AD%E3%81%AENIPT%E3%81%A8%E3%81%AE%E9%96%A2%E4%BF%82\"><\/span><strong>8. \u598a\u5a20\u4e2d\u306eNIPT\u3068\u306e\u95a2\u4fc2<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>NIPT\u306e\u57fa\u672c\u691c\u67fb\u304c\u5bfe\u8c61\u3068\u3059\u308b\u306e\u306f21\u30fb18\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/patau-syndrome\/\">13\u30c8\u30ea\u30bd\u30df\u30fc<\/a>\u306a\u3069\u306e\u67d3\u8272\u4f53\u6570\u306e\u7570\u5e38\u3067\u300117p11.2\u91cd\u8907\u306e\u3088\u3046\u306a\u5fae\u5c0f\u306a\u91cd\u8907\u306f\u57fa\u672c\u691c\u67fb\u306e\u5bfe\u8c61\u5916\u3067\u3059\u3002<\/strong><\/p>\n\n\n\n<p>\u691c\u67fb\u9805\u76ee\u3092<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u30fb\u91cd\u8907\u75c7\u5019\u7fa4\u307e\u3067\u5e83\u3052\u305f\u62e1\u5927\u30d7\u30e9\u30f3\u3067\u306f\u3001\u5bfe\u8c61\u3068\u306a\u308b\u75be\u60a3\u306e\u4e00\u3064\u306b\u542b\u307e\u308c\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002\u305f\u3060\u3057\u3001\u5bfe\u5fdc\u3059\u308b\u75be\u60a3\u306e\u7bc4\u56f2\u3084\u691c\u51fa\u611f\u5ea6\u306f\u691c\u67fb\u65bd\u8a2d\u30fb\u30d7\u30e9\u30f3\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u307e\u3059\u3002\u3054\u81ea\u8eab\u304c\u691c\u8a0e\u3057\u3066\u3044\u308b\u30d7\u30e9\u30f3\u304c\u3069\u306e\u7bc4\u56f2\u307e\u3067\u5bfe\u8c61\u306b\u3057\u3066\u3044\u308b\u304b\u306f\u3001\u691c\u67fb\u3092\u53d7\u3051\u308b\u65bd\u8a2d\u306b\u76f4\u63a5\u554f\u3044\u5408\u308f\u305b\u3066\u78ba\u8a8d\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<p><strong>\u3082\u3046\u4e00\u3064\u77e5\u3063\u3066\u304a\u3044\u3066\u3044\u305f\u3060\u304d\u305f\u3044\u306e\u306f\u3001NIPT\u306f\u3042\u304f\u307e\u3067\u975e\u78ba\u5b9a\u7684\u306a\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u691c\u67fb\u3060\u3068\u3044\u3046\u70b9\u3067\u3059\u3002<\/strong>\u967d\u6027\u6240\u898b\u304c\u51fa\u305f\u5834\u5408\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u306a\u3069\u306b\u3088\u308b\u78ba\u5b9a\u691c\u67fb\u3067\u8a3a\u65ad\u3092\u56fa\u3081\u308b\u6d41\u308c\u306b\u306a\u308a\u307e\u3059\u3002\u3059\u3067\u306b\u3054\u5bb6\u65cf\u306b\u540c\u3058\u91cd\u8907\u304c\u3042\u308b\u5834\u5408\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\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>\u3067\u63a1\u53d6\u3057\u305f\u691c\u4f53\u3092<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09\u306b\u304b\u3051\u308b\u65b9\u6cd5\u304c\u7528\u3044\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u691c\u67fb\u7d50\u679c\u304c\u5c4a\u304f\u307e\u3067\u306e\u65e5\u6570\u306f\u3001\u691c\u4f53\u3092\u89e3\u6790\u3059\u308b\u691c\u67fb\u6a5f\u95a2\u306b\u3088\u3063\u3066\u5909\u308f\u308a\u307e\u3059\u3002\u5f53\u9662\u306e\u5834\u5408\u306f\u3001\u56fd\u5185\u306e\u691c\u67fb\u6a5f\u95a2\uff08\u6771\u4eac\u885b\u751f\u691c\u67fb\u6240\uff09\u3067\u89e3\u6790\u3059\u308b\u305f\u3081\u3001\u6700\u77ed2\u301c5\u65e5\u3067\u306e\u7d50\u679c\u5831\u544a\u304c\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u4eca\u56de\u3001\u3053\u306e\u75be\u60a3\u306b\u3064\u3044\u3066\u306e\u5b9f\u4f53\u9a13\u306b\u57fa\u3065\u304f\u6295\u7a3f\u3092X\uff08\u65e7Twitter\uff09\u3067\u63a2\u3057\u307e\u3057\u305f\u304c\u3001\u76f4\u8fd1\u3067\u306f\u8a72\u5f53\u3059\u308b\u6295\u7a3f\u304c\u898b\u5f53\u305f\u308a\u307e\u305b\u3093\u3067\u3057\u305f\u3002\u5e0c\u5c11\u75be\u60a3\u3067\u3042\u308b\u305f\u3081\u4e00\u6b21\u60c5\u5831\u304c\u4e4f\u3057\u3044\u306e\u306f\u81ea\u7136\u306a\u3053\u3068\u3067\u3059\u3002\u672c\u8a18\u4e8b\u3067\u306f\u4ee3\u308f\u308a\u306b\u3001GeneReviews\u30fbMedlinePlus Genetics\u306a\u3069\u56fd\u5185\u5916\u306e\u516c\u7684\u30fb\u5b66\u8853\u60c5\u5831\u3092\u6839\u62e0\u3068\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<div class=\"wp-block-buttons is-content-justification-center is-layout-flex wp-container-core-buttons-is-layout-16018d1d wp-block-buttons-is-layout-flex\">\n<div class=\"wp-block-button\"><a class=\"wp-block-button__link wp-element-button\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/plan-finder\/\" target=\"_blank\" rel=\"noopener\">\u30d7\u30e9\u30f3\u8a3a\u65ad\u3067\u81ea\u5206\u306b\u5408\u3046\u691c\u67fb\u3092\u63a2\u3059<\/a><\/div>\n<\/div>\n\n\n\n    <a href=\"\/nipt\/right-time-nipt\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">NIPT\u306f\u3044\u3064\u307e\u3067\u53d7\u3051\u3089\u308c\u308b\uff1f\u6642\u671f\u306e\u76ee\u5b89\u3010\u533b\u5e2b\u76e3\u4fee\u3011 <\/div>\n          <div class=\"blog-card-excerpt\">\u8d64\u3061\u3083\u3093\u306b\u67d3\u8272\u4f53\u7570\u5e38\u304c\u306a\u3044\u304b\u3092\u8abf\u3079\u308bNIPT(\u65b0\u578b\u51fa\u751f\u524d\u8a3a\u65ad)\u306b\u3064\u3044\u3066\u3001\u3044\u3064\u3001\u3069\u3053\u3067\u3001\u3069\u3093\u306a\u691c\u67fb\u3092\u53d7\u3051\u308b\u306e\u304c\u6700\u3082\u826f\u3044\u306e\u3067\u3057\u3087\u3046\u304b\uff1f\u4eca\u56de\u306f\u3001N...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"9_%E3%81%94%E5%AE%B6%E6%97%8F%E3%81%B8%E3%81%AE%E3%83%A1%E3%83%83%E3%82%BB%E3%83%BC%E3%82%B8\"><\/span><strong>9. \u3054\u5bb6\u65cf\u3078\u306e\u30e1\u30c3\u30bb\u30fc\u30b8<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u8a3a\u65ad\u540d\u3092\u805e\u3044\u305f\u76f4\u5f8c\u3001\u3054\u5bb6\u65cf\u306f\u300c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosomal-abnormality\/\">\u67d3\u8272\u4f53\u7570\u5e38<\/a>\u300d\u3068\u3044\u3046\u8a00\u8449\u306e\u91cd\u307f\u306b\u62bc\u3057\u3064\u3076\u3055\u308c\u305d\u3046\u306b\u306a\u3063\u3066\u3044\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u7279\u306b\u300c\u8a00\u8449\u304c\u9045\u3044\u300d\u300c\u4f53\u91cd\u304c\u5897\u3048\u306a\u3044\u300d\u3068\u3044\u3046\u60a9\u307f\u306f\u3001\u65e5\u3005\u306e\u80b2\u5150\u306e\u4e2d\u3067\u89aa\u5fa1\u3055\u3093\u306e\u5fc3\u3092\u3058\u308f\u3058\u308f\u3068\u8ffd\u3044\u8a70\u3081\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u300c\u79c1\u306e\u6bcd\u4e73\u304c\u8db3\u308a\u306a\u3044\u306e\u304b\u306a\u300d\u300c\u80b2\u3066\u65b9\u304c\u60aa\u3044\u306e\u304b\u306a\u300d\u3068\u3002\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u5916\u6765\u3067\u306f\u3001\u305d\u3046\u6d99\u3050\u307e\u308c\u308b\u4fdd\u8b77\u8005\u306e\u65b9\u306b\u3001\u3053\u308c\u307e\u3067\u4f55\u5ea6\u3082\u304a\u4f1a\u3044\u3057\u3066\u304d\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<p>\u3067\u3082\u3001\u3069\u3046\u304b\u3054\u81ea\u8eab\u3092\u8cac\u3081\u306a\u3044\u3067\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<p>\u4f53\u91cd\u304c\u5897\u3048\u306b\u304f\u3044\u306e\u3082\u3001\u8a00\u8449\u304c\u3086\u3063\u304f\u308a\u306a\u306e\u3082\u3001\u3053\u306e\u75c7\u5019\u7fa4\u306e\u7279\u6027\uff08\u4f53\u8cea\uff09\u3067\u3059\u3002\u3042\u306a\u305f\u306e\u305b\u3044\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>17p\u91cd\u8907\u75c7\u5019\u7fa4\u306e\u304a\u5b50\u69d8\u305f\u3061\u306f\u3001\u767a\u9054\u306e\u30da\u30fc\u30b9\u306f\u3086\u3063\u304f\u308a\u3067\u3059\u304c\u3001\u5fc5\u305a\u6210\u9577\u3057\u307e\u3059\u3002\u30e6\u30cb\u30fc\u30af\u306a\u8996\u70b9\u3067\u4e16\u754c\u3092\u697d\u3057\u307f\u3001\u4eba\u61d0\u3063\u3053\u3044\u7b11\u9854\u3067\u5bb6\u65cf\u3092\u7652\u3084\u3057\u3001\u5c11\u3057\u305a\u3064\u3067\u304d\u308b\u3053\u3068\u3092\u5897\u3084\u3057\u3066\u3044\u304d\u307e\u3059\u3002\u8a00\u8449\u3060\u3051\u3067\u306a\u304f\u3001\u30b5\u30a4\u30f3\u3084\u8868\u60c5\u3067\u300c\u5927\u597d\u304d\u300d\u3092\u4f1d\u3048\u3066\u304f\u308c\u308b\u3088\u3046\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u4e00\u4eba\u3067\u62b1\u3048\u8fbc\u307e\u306a\u3044\u3067\u304f\u3060\u3055\u3044\u3002<\/strong>\u5e0c\u5c11\u75be\u60a3\u3086\u3048\u306b\u3001\u8fd1\u6240\u306b\u540c\u3058\u75c5\u6c17\u306e\u5b50\u3092\u898b\u3064\u3051\u308b\u306e\u306f\u96e3\u3057\u3044\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002\u3057\u304b\u3057\u3001\u30a4\u30f3\u30bf\u30fc\u30cd\u30c3\u30c8\u3084SNS\u3092\u901a\u3058\u3066\u3001\u4e16\u754c\u4e2d\u306e\u300cPTLS\u30d5\u30a1\u30df\u30ea\u30fc\u300d\u3068\u3064\u306a\u304c\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u533b\u5e2b\u3001\u770b\u8b77\u5e2b\u3001\u7642\u6cd5\u58eb\u3001\u5fc3\u7406\u58eb\u3001\u30bd\u30fc\u30b7\u30e3\u30eb\u30ef\u30fc\u30ab\u30fc\u3002\u3042\u306a\u305f\u306e\u5468\u308a\u306b\u306f\u3001\u304a\u5b50\u69d8\u3092\u652f\u3048\u308b\u300c\u30c1\u30fc\u30e0\u300d\u3092\u4f5c\u308b\u305f\u3081\u306e\u5c02\u9580\u5bb6\u304c\u3044\u307e\u3059\u3002\u5206\u304b\u3089\u306a\u3044\u3053\u3068\u306f\u805e\u304d\u3001\u8f9b\u3044\u6642\u306f\u5410\u304d\u51fa\u3057\u3001\u5468\u308a\u3092\u983c\u3063\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<p>\u7126\u3089\u305a\u3001\u4e00\u65e5\u4e00\u65e5\u3092\u5927\u5207\u306b\u3002\u304a\u5b50\u69d8\u306e\u5c0f\u3055\u306a\u300c\u3067\u304d\u305f\uff01\u300d\u3092\u4e00\u7dd2\u306b\u559c\u3073\u5408\u3048\u308b\u65e5\u3005\u304c\u3001\u3053\u308c\u304b\u3089\u306e\u672a\u6765\u306b\u305f\u304f\u3055\u3093\u5f85\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%AC%A1%E3%81%AE%E3%82%A2%E3%82%AF%E3%82%B7%E3%83%A7%E3%83%B3%EF%BC%9A%E3%81%BE%E3%81%9A%E7%A2%BA%E8%AA%8D%E3%81%97%E3%81%9F%E3%81%84%E3%81%93%E3%81%A8\"><\/span><strong>\u6b21\u306e\u30a2\u30af\u30b7\u30e7\u30f3\uff1a\u307e\u305a\u78ba\u8a8d\u3057\u305f\u3044\u3053\u3068<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3053\u306e\u8a18\u4e8b\u3092\u8aad\u3093\u3060\u5f8c\u3001\u4e3b\u6cbb\u533b\u306b\u78ba\u8a8d\u3059\u308b\u3068\u826f\u3044\u5177\u4f53\u7684\u306a\u30dd\u30a4\u30f3\u30c8\u3067\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li>\u300c\u91cd\u8907\u7bc4\u56f2\u300d\u306e\u78ba\u8a8d:<br>\u300cRAI1\u907a\u4f1d\u5b50\u306f\u91cd\u8907\u306b\u542b\u307e\u308c\u3066\u3044\u307e\u3059\u304b\uff1f\uff08PTLS\u306e\u8a3a\u65ad\u3067\u3059\u304b\uff1f\uff09\u300d\u3068\u78ba\u8a8d\u3057\u307e\u3057\u3087\u3046\u3002<\/li>\n\n\n\n<li>\u5408\u4f75\u75c7\u306e\u30c1\u30a7\u30c3\u30af:<br>\u300c\u5fc3\u81d3\u306e\u30a8\u30b3\u30fc\u691c\u67fb\u3001\u7761\u7720\u6642\u306e\u7121\u547c\u5438\u306e\u30c1\u30a7\u30c3\u30af\u306f\u5fc5\u8981\u3067\u3059\u304b\uff1f\u300d\u3068\u805e\u3044\u3066\u307f\u307e\u3057\u3087\u3046\u3002<\/li>\n<\/ol>\n\n\n\n<p>\u7642\u80b2\u306e\u958b\u59cb:<br>\u304a\u4f4f\u307e\u3044\u306e\u81ea\u6cbb\u4f53\u306e\u798f\u7949\u7a93\u53e3\uff08\u969c\u5bb3\u798f\u7949\u8ab2\u306a\u3069\uff09\u3067\u3001\u65e9\u671f\u7642\u80b2\uff08\u5150\u7ae5\u767a\u9054\u652f\u63f4\uff09\u3092\u53d7\u3051\u308b\u305f\u3081\u306e\u624b\u7d9a\u304d\u3084\u3001\u300c\u53d7\u7d66\u8005\u8a3c\u300d\u306e\u53d6\u5f97\u306b\u3064\u3044\u3066\u805e\u3044\u3066\u307f\u307e\u3057\u3087\u3046\u3002<\/p>\n\n\n\n\n\n\n<div class=\"wp-block-buttons is-content-justification-center is-layout-flex wp-container-core-buttons-is-layout-16018d1d wp-block-buttons-is-layout-flex\">\n<div class=\"wp-block-button\"><a class=\"wp-block-button__link wp-element-button\" href=\"https:\/\/mypage-nipt-reservation.hiro-clinic.or.jp\/registration\" target=\"_blank\" rel=\"noopener\">NIPT\u306e\u4e88\u7d04\u306f\u3053\u3061\u3089<\/a><\/div>\n\n\n\n<div class=\"wp-block-button is-style-outline is-style-outline--2\"><a class=\"wp-block-button__link wp-element-button\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/line-registration\/\" target=\"_blank\" rel=\"noopener\">LINE\u3067\u7121\u6599\u76f8\u8ac7\u3059\u308b<\/a><\/div>\n<\/div>\n\n\n\n<p>\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<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%EF%BC%88FAQ%EF%BC%89\"><\/span><strong>\u3088\u304f\u3042\u308b\u8cea\u554f\uff08FAQ\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%AF%BF%E5%91%BD%E3%81%AB%E5%BD%B1%E9%9F%BF%E3%81%AF%E3%81%82%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u5bff\u547d\u306b\u5f71\u97ff\u306f\u3042\u308a\u307e\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u91cd\u7be4\u306a\u5fc3\u75be\u60a3\u306a\u3069\u3092\u5408\u4f75\u3057\u3066\u3044\u306a\u3051\u308c\u3070\u3001\u751f\u547d\u4e88\u5f8c\u306f\u826f\u597d\u3067\u3001\u5065\u5eb7\u306a\u65b9\u3068\u5927\u304d\u304f\u5909\u308f\u3089\u306a\u3044\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u6210\u4eba\u3057\u3066\u793e\u4f1a\u751f\u6d3b\u3092\u9001\u3063\u3066\u3044\u308b\u65b9\u3082\u3044\u3089\u3063\u3057\u3083\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%82%B7%E3%83%A3%E3%83%AB%E3%82%B3%E3%83%BC%E3%83%BB%E3%83%9E%E3%83%AA%E3%83%BC%E3%83%BB%E3%83%88%E3%82%A5%E3%83%BC%E3%82%B9%E7%97%85%EF%BC%88CMT1A%EF%BC%89%E3%81%A8%E3%81%AF%E9%81%95%E3%81%86%E3%81%AE%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u30b7\u30e3\u30eb\u30b3\u30fc\u30fb\u30de\u30ea\u30fc\u30fb\u30c8\u30a5\u30fc\u30b9\u75c5\uff08CMT1A\uff09\u3068\u306f\u9055\u3046\u306e\u3067\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u306f\u3044\u3001\u7570\u306a\u308a\u307e\u3059\u3002CMT1A\u308217p\u306e\u91cd\u8907\uff0817p12\uff09\u304c\u539f\u56e0\u3067\u3059\u304c\u3001\u5834\u6240\u304c\u5c11\u3057\u305a\u308c\u3066\u304a\u308a\u3001PMP22\u3068\u3044\u3046\u5225\u306e\u907a\u4f1d\u5b50\u304c\u539f\u56e0\u3067\u3059\u3002\u3053\u3061\u3089\u306f\u4e3b\u306b\u624b\u8db3\u306e\u795e\u7d4c\uff08\u672b\u68a2\u795e\u7d4c\uff09\u306b\u5f71\u97ff\u304c\u51fa\u307e\u3059\u3002PTLS\uff0817p11.2\u91cd\u8907\uff09\u3068\u306f\u5225\u306e\u75c5\u6c17\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%80%8C17p12%E9%87%8D%E8%A4%87%E7%97%87%E5%80%99%E7%BE%A4%E3%80%8D%E3%82%84%E3%80%8CYUHAL%E7%97%87%E5%80%99%E7%BE%A4%E3%80%8D%E3%81%A8%E3%81%AF%E9%81%95%E3%81%86%E7%97%85%E6%B0%97%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u300c17p12\u91cd\u8907\u75c7\u5019\u7fa4\u300d\u3084\u300cYUHAL\u75c7\u5019\u7fa4\u300d\u3068\u306f\u9055\u3046\u75c5\u6c17\u3067\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3044\u305a\u308c\u308217p\u5468\u8fba\u306e\u91cd\u8907\u3067\u3059\u304c\u3001\u7bc4\u56f2\u3068\u539f\u56e0\u907a\u4f1d\u5b50\u304c\u7570\u306a\u308a\u307e\u3059\u300217p12\u91cd\u8907\u75c7\u5019\u7fa4\u306fPMP22\u304c\u539f\u56e0\u3067CMT1A\u306e\u75c7\u72b6\u304c\u4e2d\u5fc3\u3067\u3059\u3002YUHAL\u75c7\u5019\u7fa4\u306fPMP22\u3068RAI1\u306e\u4e21\u65b9\u3092\u542b\u3080\u5e83\u3044\u7bc4\u56f2\u304c\u91cd\u8907\u3057\u3001CMT1A\u3068PTLS\u306e\u7279\u5fb4\u3092\u4f75\u305b\u6301\u3061\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%87%AA%E9%96%89%E3%82%B9%E3%83%9A%E3%82%AF%E3%83%88%E3%83%A9%E3%83%A0%E7%97%87%EF%BC%88ASD%EF%BC%89%E3%81%AE%E7%89%B9%E6%80%A7%E3%81%AF%E3%81%A9%E3%81%AE%E3%81%8F%E3%82%89%E3%81%84%E3%81%AE%E5%89%B2%E5%90%88%E3%81%A7%E8%A6%8B%E3%82%89%E3%82%8C%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\uff08ASD\uff09\u306e\u7279\u6027\u306f\u3069\u306e\u304f\u3089\u3044\u306e\u5272\u5408\u3067\u898b\u3089\u308c\u307e\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6d77\u5916\u306e\u5c0f\u898f\u6a21\u306a\u30b3\u30db\u30fc\u30c8\u7814\u7a76\u3067\u306f\u3001\u8a55\u4fa1\u5c3a\u5ea6\u3092\u7528\u3044\u305f\u691c\u8a0e\u3067\u5bfe\u8c61\u5150\u306e\u7d046\u5272\u304cASD\u306e\u8a3a\u65ad\u57fa\u6e96\u3092\u6e80\u305f\u3057\u305f\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u305f\u3060\u3057\u8abf\u67fb\u5bfe\u8c61\u306e\u4eba\u6570\u306f\u9650\u3089\u308c\u3066\u304a\u308a\u3001\u500b\u4eba\u5dee\u304c\u5927\u304d\u3044\u70b9\u306b\u6ce8\u610f\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%AC%A1%E3%81%AE%E5%AD%90%E3%81%AB%E9%81%BA%E4%BC%9D%E3%81%97%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u6b21\u306e\u5b50\u306b\u907a\u4f1d\u3057\u307e\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3054\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u691c\u67fb\u304c\u9670\u6027\u3067\u3042\u308c\u3070\u3001\u6b21\u306e\u304a\u5b50\u69d8\u306b\u540c\u3058\u91cd\u8907\u304c\u751f\u3058\u308b\u78ba\u7387\u306f\u3001\u751f\u6b96\u7d30\u80de<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mosaicism\/\">\u30e2\u30b6\u30a4\u30af<\/a>\u306e\u53ef\u80fd\u6027\u3092\u8003\u616e\u3057\u3066\u30821%\u7a0b\u5ea6\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u7247\u65b9\u306e\u89aa\u306b\u540c\u3058\u91cd\u8907\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u5404\u304a\u5b50\u69d8\u3078\u306e\u4f1d\u308f\u308b\u78ba\u7387\u306f50%\u3067\u3059\u3002\u8a73\u3057\u304f\u306f\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u3054\u78ba\u8a8d\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%A6%8A%E5%A8%A0%E4%B8%AD%E3%81%AENIPT%E3%81%A7%E3%81%93%E3%81%AE%E7%97%85%E6%B0%97%E3%81%AF%E3%82%8F%E3%81%8B%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u598a\u5a20\u4e2d\u306eNIPT\u3067\u3053\u306e\u75c5\u6c17\u306f\u308f\u304b\u308a\u307e\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>21\u30fb18\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/patau-syndrome\/\">13\u30c8\u30ea\u30bd\u30df\u30fc<\/a>\u306a\u3069\u306e\u57fa\u672c\u691c\u67fb\u306e\u5bfe\u8c61\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u30fb\u91cd\u8907\u75c7\u5019\u7fa4\u307e\u3067\u5bfe\u8c61\u3092\u5e83\u3052\u305f\u62e1\u5927NIPT\u306e\u30d7\u30e9\u30f3\u3067\u306f\u5bfe\u8c61\u306b\u542b\u307e\u308c\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u5bfe\u5fdc\u7bc4\u56f2\u306f\u691c\u67fb\u65bd\u8a2d\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u307e\u3059\u3002\u967d\u6027\u6240\u898b\u304c\u51fa\u305f\u5834\u5408\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u306a\u3069\u306b\u3088\u308b\u78ba\u5b9a\u691c\u67fb\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" 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href=\"https:\/\/medlineplus.gov\/genetics\/gene\/rai1\/\" target=\"_blank\" rel=\"noopener\">RAI1 gene\uff5cMedlinePlus Genetics\uff08\u7c73\u56fd\u56fd\u7acb\u533b\u5b66\u56f3\u66f8\u9928\uff09<\/a>\uff0f<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/20110824\/\" target=\"_blank\" rel=\"noopener\">Cognitive and behavioral characterization of the Potocki-Lupski 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