{"id":83660,"date":"2024-11-15T17:21:13","date_gmt":"2024-11-15T08:21:13","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=83660"},"modified":"2026-07-29T05:23:42","modified_gmt":"2026-07-28T20:23:42","slug":"xq28-deletion-syndrome","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/xq28-deletion-syndrome\/","title":{"rendered":"\u67d3\u8272\u4f53Xq28\u6b20\u5931\u75c7\u5019\u7fa4\uff5c\u539f\u56e0\u30fb\u75c7\u72b6\u3068NIPT\u306e\u95a2\u4fc2"},"content":{"rendered":"\n<p><strong>\u304a\u5b50\u3055\u307e\u306e\u691c\u67fb\u7d50\u679c\u3084\u8a3a\u65ad\u66f8\u306b\u300c\u67d3\u8272\u4f53<a 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/xq28-deletion-syndrome\/\">Xq28\u6b20\u5931\u75c7\u5019\u7fa4<\/a>\u304c\u3069\u306e\u3088\u3046\u306a\u300c\u9023\u7d9a\u907a\u4f1d\u5b50\u75c7\u5019\u7fa4\u300d\u306a\u306e\u304b<\/li>\n<li>MTM1\u30fbMAMLD1\u3068\u3044\u30462\u3064\u306e\u907a\u4f1d\u5b50\u3068\u75c7\u72b6\u306e\u95a2\u4fc2<\/li>\n<li>\u7b4b\u529b\u4f4e\u4e0b\u30fb\u547c\u5438\u4e0d\u5168\u30fb\u5916\u9670\u90e8\u7570\u5e38\u306a\u3069\u4e3b\u306a\u75c7\u72b6<\/li>\n<li>X\u9023\u9396\u6027\u907a\u4f1d\u306e\u4ed5\u7d44\u307f\u3068\u6b21\u306e\u304a\u5b50\u3055\u307e\u3078\u306e\u5f71\u97ff\u306e\u8003\u3048\u65b9<\/li>\n<li><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u30fbNIPT\u3067\u3053\u306e\u75c5\u6c17\u304c\u5bfe\u8c61\u306b\u306a\u308b\u304b\u306a\u3089\u306a\u3044\u304b<\/li>\n<li>\u8a3a\u65ad\u5f8c\u306e\u6cbb\u7642\u65b9\u91dd\u3068\u3054\u5bb6\u65cf\u3078\u306e\u652f\u63f4\u306e\u9078\u629e\u80a2<\/li>\n<\/ul>\n<\/div>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u598a\u5a20\u4e2d\u306e\u30ea\u30b9\u30af\u7ba1\u7406\u306b<br \/>\nNIPT\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p>&nbsp;<\/p>\n<\/div>\n<\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"18\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/Xq28-hgtIdeo_genome_asia_14a2a9_5c61b0-1024x18.png\" alt=\"X\u67d3\u8272\u4f53\u306e\u9577\u815528\u756a\u9818\u57df\uff08Xq28\uff09\u306e\u4f4d\u7f6e\u3092\u793a\u3059\u67d3\u8272\u4f53\u6a21\u5f0f\u56f3\" class=\"wp-image-89645\"\/><\/figure><\/div>\n\n\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_85 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">\u76ee\u6b21<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/xq28-deletion-syndrome\/#1_%E6%9F%93%E8%89%B2%E4%BD%93Xq28%E6%AC%A0%E5%A4%B1%E7%97%87%E5%80%99%E7%BE%A4%E3%81%A8%E3%81%AF%EF%BC%88%E9%80%A3%E7%B6%9A%E9%81%BA%E4%BC%9D%E5%AD%90%E7%97%87%E5%80%99%E7%BE%A4%E3%81%A8%E3%81%84%E3%81%86%E7%89%B9%E5%BE%B4%EF%BC%89\" >1. \u67d3\u8272\u4f53Xq28\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u306f\uff08\u9023\u7d9a\u907a\u4f1d\u5b50\u75c7\u5019\u7fa4\u3068\u3044\u3046\u7279\u5fb4\uff09<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/xq28-deletion-syndrome\/#%E3%81%AA%E3%81%9C%E3%80%8C%E7%AD%8B%E8%82%89%E3%81%AE%E7%97%85%E6%B0%97%E3%80%8D%E3%81%A8%E3%80%8C%E5%A4%96%E9%99%B0%E9%83%A8%E3%81%AE%E7%95%B0%E5%B8%B8%E3%80%8D%E3%81%8C%E5%90%8C%E6%99%82%E3%81%AB%E8%B5%B7%E3%81%93%E3%82%8B%E3%81%AE%E3%81%8B\" 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/xq28-deletion-syndrome\/#2_%E4%B8%BB%E3%81%AA%E7%97%87%E7%8A%B6%EF%BC%88%E9%87%8D%E7%97%87%E5%9E%8B%E3%83%BB%E8%BB%BD%E7%97%87%E5%9E%8B%E3%83%BB%E5%A5%B3%E6%80%A7%E4%BF%9D%E5%9B%A0%E8%80%85%E3%81%A7%E7%95%B0%E3%81%AA%E3%82%8B%E7%8F%BE%E3%82%8C%E6%96%B9%EF%BC%89\" >2. \u4e3b\u306a\u75c7\u72b6\uff08\u91cd\u75c7\u578b\u30fb\u8efd\u75c7\u578b\u30fb\u5973\u6027\u4fdd\u56e0\u8005\u3067\u7570\u306a\u308b\u73fe\u308c\u65b9\uff09<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/xq28-deletion-syndrome\/#%E2%91%A0_%E7%94%B7%E6%80%A7%E3%81%AE%E9%87%8D%E7%97%87%E5%9E%8B%EF%BC%88%E5%8F%A4%E5%85%B8%E5%9E%8B%EF%BC%89X%E9%80%A3%E9%8E%96%E5%9E%8B%E3%83%9F%E3%82%AA%E3%83%81%E3%83%A5%E3%83%BC%E3%83%90%E3%83%A9%E3%83%BC%E7%AD%8B%E7%97%87\" >\u2460 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/xq28-deletion-syndrome\/#%E2%91%A3_%E5%A5%B3%E6%80%A7%E4%BF%9D%E5%9B%A0%E8%80%85%E3%81%AE%E7%97%87%E7%8A%B6\" >\u2463 \u5973\u6027\u4fdd\u56e0\u8005\u306e\u75c7\u72b6<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/xq28-deletion-syndrome\/#3_%E5%8E%9F%E5%9B%A0%E3%81%A8%E9%81%BA%E4%BC%9D%E3%81%AE%E4%BB%95%E7%B5%84%E3%81%BF%EF%BC%88X%E9%80%A3%E9%8E%96%E6%80%A7%E9%81%BA%E4%BC%9D%EF%BC%89\" >3. \u539f\u56e0\u3068\u907a\u4f1d\u306e\u4ed5\u7d44\u307f\uff08X\u9023\u9396\u6027\u907a\u4f1d\uff09<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/xq28-deletion-syndrome\/#%E7%94%B7%E5%A5%B3%E3%81%A7%E7%97%87%E7%8A%B6%E3%81%AE%E9%87%8D%E3%81%95%E3%81%8C%E5%A4%89%E3%82%8F%E3%82%8B%E7%90%86%E7%94%B1\" >\u7537\u5973\u3067\u75c7\u72b6\u306e\u91cd\u3055\u304c\u5909\u308f\u308b\u7406\u7531<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/xq28-deletion-syndrome\/#%E3%83%87%E3%83%8E%E3%83%9C%EF%BC%88%E6%96%B0%E7%94%9F%E7%AA%81%E7%84%B6%E5%A4%89%E7%95%B0%EF%BC%89%E3%81%A8%E5%AE%B6%E6%97%8F%E5%86%85%E4%BC%9D%E9%81%94\" >\u30c7\u30ce\u30dc\uff08\u65b0\u751f\u7a81\u7136\u5909\u7570\uff09\u3068\u5bb6\u65cf\u5185\u4f1d\u9054<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-12\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/xq28-deletion-syndrome\/#4_%E5%87%BA%E7%94%9F%E5%89%8D%E8%A8%BA%E6%96%AD%E3%83%BBNIPT%E3%81%A8%E3%81%AE%E9%96%A2%E4%BF%82\" >4. \u51fa\u751f\u524d\u8a3a\u65ad\u30fbNIPT\u3068\u306e\u95a2\u4fc2<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-13\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/xq28-deletion-syndrome\/#5_%E8%A8%BA%E6%96%AD%E3%81%A8%E6%A4%9C%E6%9F%BB\" >5. \u8a3a\u65ad\u3068\u691c\u67fb<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/xq28-deletion-syndrome\/#%E2%91%A0_%E9%81%BA%E4%BC%9D%E5%AD%A6%E7%9A%84%E6%A4%9C%E6%9F%BB%EF%BC%88MTM1%E3%83%BBMAMLD1%E3%81%AE%E5%A4%89%E7%95%B0%E8%A7%A3%E6%9E%90%EF%BC%89\" >\u2460 \u907a\u4f1d\u5b66\u7684\u691c\u67fb\uff08MTM1\u30fbMAMLD1\u306e\u5909\u7570\u89e3\u6790\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-15\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/xq28-deletion-syndrome\/#%E2%91%A1_%E8%87%A8%E5%BA%8A%E6%89%80%E8%A6%8B%E3%81%A8%E7%AD%8B%E7%94%9F%E6%A4%9C\" >\u2461 \u81e8\u5e8a\u6240\u898b\u3068\u7b4b\u751f\u691c<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/xq28-deletion-syndrome\/#%E2%91%A2_%E5%87%BA%E7%94%9F%E5%BE%8C%E3%81%AE%E5%85%A8%E8%BA%AB%E8%A9%95%E4%BE%A1\" >\u2462 \u51fa\u751f\u5f8c\u306e\u5168\u8eab\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-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/xq28-deletion-syndrome\/#6_%E6%B2%BB%E7%99%82%E3%81%A8%E7%AE%A1%E7%90%86\" >6. \u6cbb\u7642\u3068\u7ba1\u7406<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-18\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/xq28-deletion-syndrome\/#%E5%91%BC%E5%90%B8%E7%AE%A1%E7%90%86\" >\u547c\u5438\u7ba1\u7406<\/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\/xq28-deletion-syndrome\/#%E6%A0%84%E9%A4%8A%E7%AE%A1%E7%90%86\" >\u6804\u990a\u7ba1\u7406<\/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\/xq28-deletion-syndrome\/#%E9%81%8B%E5%8B%95%E3%83%BB%E3%83%AA%E3%83%8F%E3%83%93%E3%83%AA%E3%83%86%E3%83%BC%E3%82%B7%E3%83%A7%E3%83%B3\" >\u904b\u52d5\u30fb\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-21\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/xq28-deletion-syndrome\/#%E5%A4%96%E9%99%B0%E9%83%A8%E7%95%B0%E5%B8%B8%E3%81%B8%E3%81%AE%E5%AF%BE%E5%BF%9C\" >\u5916\u9670\u90e8\u7570\u5e38\u3078\u306e\u5bfe\u5fdc<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-22\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/xq28-deletion-syndrome\/#7_%E3%81%BE%E3%81%A8%E3%82%81%EF%BC%9A%E7%97%85%E6%B0%97%E3%81%A8%E3%81%AE%E4%BB%98%E3%81%8D%E5%90%88%E3%81%84%E6%96%B9\" >7. \u307e\u3068\u3081\uff1a\u75c5\u6c17\u3068\u306e\u4ed8\u304d\u5408\u3044\u65b9<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-23\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/xq28-deletion-syndrome\/#8_%E5%AE%B6%E6%97%8F%E3%81%B8%E3%81%AE%E3%83%A1%E3%83%83%E3%82%BB%E3%83%BC%E3%82%B8\" >8. \u5bb6\u65cf\u3078\u306e\u30e1\u30c3\u30bb\u30fc\u30b8<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-24\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/xq28-deletion-syndrome\/#%E3%82%88%E3%81%8F%E3%81%82%E3%82%8B%E8%B3%AA%E5%95%8F\" >\u3088\u304f\u3042\u308b\u8cea\u554f<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-25\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/xq28-deletion-syndrome\/#%E6%9F%93%E8%89%B2%E4%BD%93Xq28%E6%AC%A0%E5%A4%B1%E7%97%87%E5%80%99%E7%BE%A4%E3%81%A8%E3%81%AF%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E7%97%85%E6%B0%97%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\" >\u67d3\u8272\u4f53Xq28\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u306f\u3069\u306e\u3088\u3046\u306a\u75c5\u6c17\u3067\u3059\u304b\u3002<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-26\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/xq28-deletion-syndrome\/#%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E7%97%87%E7%8A%B6%E3%81%8C%E3%81%82%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >\u3069\u306e\u3088\u3046\u306a\u75c7\u72b6\u304c\u3042\u308a\u307e\u3059\u304b\u3002<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-27\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/xq28-deletion-syndrome\/#%E9%81%BA%E4%BC%9D%E6%80%A7%E3%81%AE%E7%97%85%E6%B0%97%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82%E6%AC%A1%E3%81%AE%E5%AD%90%E3%81%AB%E3%82%82%E5%BD%B1%E9%9F%BF%E3%81%97%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >\u907a\u4f1d\u6027\u306e\u75c5\u6c17\u3067\u3059\u304b\u3002\u6b21\u306e\u5b50\u306b\u3082\u5f71\u97ff\u3057\u307e\u3059\u304b\u3002<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-28\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/xq28-deletion-syndrome\/#%E6%9F%93%E8%89%B2%E4%BD%93Xq28%E6%AC%A0%E5%A4%B1%E7%97%87%E5%80%99%E7%BE%A4%E3%81%AFNIPT%E3%81%A7%E3%82%8F%E3%81%8B%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >\u67d3\u8272\u4f53Xq28\u6b20\u5931\u75c7\u5019\u7fa4\u306fNIPT\u3067\u308f\u304b\u308a\u307e\u3059\u304b\u3002<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-29\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/xq28-deletion-syndrome\/#%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E6%A4%9C%E6%9F%BB%E3%81%A7%E7%A2%BA%E5%AE%9A%E8%A8%BA%E6%96%AD%E3%81%95%E3%82%8C%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >\u3069\u306e\u3088\u3046\u306a\u691c\u67fb\u3067\u78ba\u5b9a\u8a3a\u65ad\u3055\u308c\u307e\u3059\u304b\u3002<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-30\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/xq28-deletion-syndrome\/#%E6%B2%BB%E7%99%82%E6%B3%95%E3%81%AF%E3%81%82%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u3059\u304b\u3002<\/a><\/li><\/ul><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E6%9F%93%E8%89%B2%E4%BD%93Xq28%E6%AC%A0%E5%A4%B1%E7%97%87%E5%80%99%E7%BE%A4%E3%81%A8%E3%81%AF%EF%BC%88%E9%80%A3%E7%B6%9A%E9%81%BA%E4%BC%9D%E5%AD%90%E7%97%87%E5%80%99%E7%BE%A4%E3%81%A8%E3%81%84%E3%81%86%E7%89%B9%E5%BE%B4%EF%BC%89\"><\/span><strong>1. \u67d3\u8272\u4f53Xq28\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u306f\uff08\u9023\u7d9a\u907a\u4f1d\u5b50\u75c7\u5019\u7fa4\u3068\u3044\u3046\u7279\u5fb4\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u3053\u306e\u75c5\u6c17\u306f\u3001X\u67d3\u8272\u4f53\u306e\u9577\u815528\u756a\u9818\u57df\u306b\u3042\u308bMTM1\u3068MAMLD1\u3068\u3044\u30462\u3064\u306e\u907a\u4f1d\u5b50\u304c\u3001\u96a3\u308a\u5408\u3063\u305f\u307e\u307e\u540c\u6642\u306b\u6b20\u5931\u3059\u308b\u3053\u3068\u3067\u8d77\u3053\u308a\u307e\u3059\u3002<\/strong>\u307e\u305a\u306f\u75c5\u540d\u3092\u5206\u89e3\u3057\u3066\u6574\u7406\u3057\u307e\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u67d3\u8272\u4f53\uff08Chromosome\uff09<\/strong>\uff1a\u4f53\u306e\u8a2d\u8a08\u56f3\uff08DNA\uff09\u304c\u53ce\u7d0d\u3055\u308c\u305f\u69cb\u9020\u7269\u3067\u3059\u3002\u4eba\u306b\u306f46\u672c\u3042\u308a\u3001\u3046\u30612\u672c\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/testing\/#anchor_sex\">\u6027\u5225<\/a>\u3092\u6c7a\u3081\u308b\u6027\u67d3\u8272\u4f53\uff08X\u3068Y\uff09\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>Xq28<\/strong>\uff1aX\u67d3\u8272\u4f53\u306e\u9577\u8155\uff08q\uff09\u306b\u3042\u308b\u300c28\u300d\u3068\u3044\u3046\u9818\u57df\u3092\u6307\u3059\u3001\u4f4f\u6240\u306e\u3088\u3046\u306a\u8868\u8a18\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6b20\u5931\uff08Deletion\uff09<\/strong>\uff1a\u305d\u306e\u5834\u6240\u306b\u3042\u308b\u907a\u4f1d\u60c5\u5831\u306e\u4e00\u90e8\u304c\u3001\u751f\u307e\u308c\u3064\u304d\u629c\u3051\u843d\u3061\u3066\u3044\u308b\u72b6\u614b\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u75c7\u5019\u7fa4\uff08Syndrome\uff09<\/strong>\uff1a\u8907\u6570\u306e\u75c7\u72b6\u304c\u7279\u5fb4\u7684\u306a\u7d44\u307f\u5408\u308f\u305b\u3067\u73fe\u308c\u308b\u75c5\u6c17\u3092\u6307\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u7c73\u56fd\u56fd\u7acb\u533b\u5b66\u56f3\u66f8\u9928\u304c\u516c\u958b\u3059\u308b\u5c02\u9580\u5bb6\u5411\u3051\u533b\u5b66\u60c5\u5831<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1432\/\" target=\"_blank\" rel=\"noopener\">GeneReviews\u300cX-Linked Myotubular Myopathy\u300d<\/a>\u306b\u3088\u308b\u3068\u3001\u3053\u306e\u9818\u57df\u306f\u9023\u7d9a\u907a\u4f1d\u5b50\u75c7\u5019\u7fa4\u3068\u3057\u3066\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002MTM1\u3068\u96a3\u63a5\u3059\u308b\u907a\u4f1d\u5b50\u304c\u540c\u6642\u306b\u6b20\u3051\u308b\u3068\u3001\u7b4b\u8089\u306e\u75c5\u6c17\u3068\u5916\u9670\u90e8\u306e\u767a\u9054\u7570\u5e38\u304c\u7d44\u307f\u5408\u308f\u3055\u308b\u305f\u3081\u3067\u3059\u30021996\u5e74\u306b\u767a\u8868\u3055\u308c\u305f\u7814\u7a76\u3067\u306f\u30012\u4eba\u306e\u7537\u5150\u4f8b\u3092\u3082\u3068\u306b\u3001\u3053\u306e\u6b20\u5931\u304c\u7d04430kb\u306e\u7bc4\u56f2\u306b\u53ca\u3076\u3053\u3068\u304c\u660e\u3089\u304b\u306b\u3055\u308c\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%AA%E3%81%9C%E3%80%8C%E7%AD%8B%E8%82%89%E3%81%AE%E7%97%85%E6%B0%97%E3%80%8D%E3%81%A8%E3%80%8C%E5%A4%96%E9%99%B0%E9%83%A8%E3%81%AE%E7%95%B0%E5%B8%B8%E3%80%8D%E3%81%8C%E5%90%8C%E6%99%82%E3%81%AB%E8%B5%B7%E3%81%93%E3%82%8B%E3%81%AE%E3%81%8B\"><\/span><strong>\u306a\u305c\u300c\u7b4b\u8089\u306e\u75c5\u6c17\u300d\u3068\u300c\u5916\u9670\u90e8\u306e\u7570\u5e38\u300d\u304c\u540c\u6642\u306b\u8d77\u3053\u308b\u306e\u304b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6b20\u5931\u306b\u5fc5\u305a\u542b\u307e\u308c\u308b\u4e2d\u5fc3\u7684\u306a\u907a\u4f1d\u5b50\u304c<strong>MTM1<\/strong>\u3067\u3059\u3002MTM1\u306f\u7b4b\u8089\u7d30\u80de\u306e\u7dad\u6301\u306b\u95a2\u308f\u308b\u9175\u7d20\u300c\u30df\u30aa\u30c1\u30e5\u30fc\u30d0\u30ea\u30f3\u300d\u3092\u4f5c\u308b\u8a2d\u8a08\u56f3\u3067\u3042\u308a\u3001\u3053\u306e\u907a\u4f1d\u5b50\u5358\u72ec\u306e\u5909\u7570\u3067\u3082\u300cX\u9023\u9396\u578b\u30df\u30aa\u30c1\u30e5\u30fc\u30d0\u30e9\u30fc\u7b4b\u75c7\uff08X-MTM\uff09\u300d\u3068\u3044\u3046\u91cd\u3044\u7b4b\u75be\u60a3\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4e00\u65b9\u3001\u6b20\u5931\u7bc4\u56f2\u304cMTM1\u306b\u96a3\u63a5\u3059\u308b<strong>MAMLD1<\/strong>\uff08\u65e7\u540dCXorf6\u30fbF18\uff09\u307e\u3067\u53ca\u3076\u3068\u3001\u7537\u306e\u5b50\u306e\u5916\u9670\u90e8\u306e\u767a\u9054\u306b\u5f71\u97ff\u304c\u52a0\u308f\u308a\u307e\u3059\u3002MAMLD1\u306f\u7cbe\u5de3\u304b\u3089\u306e\u7537\u6027\u30db\u30eb\u30e2\u30f3\u5206\u6ccc\u306b\u95a2\u308f\u308b\u3068\u3055\u308c\u308b\u907a\u4f1d\u5b50\u3067\u3001\u5358\u72ec\u306e\u5909\u7570\u3060\u3051\u3067\u3082\u5c3f\u9053\u4e0b\u88c2\u306e\u539f\u56e0\u306b\u306a\u308b\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u30021996\u5e74\u306eHu\u3089\u306e\u5831\u544a\u4ee5\u964d\u3001\u3053\u306e2\u3064\u306e\u907a\u4f1d\u5b50\u3092\u307e\u305f\u3050\u6b20\u5931\u304c\u300c\u7b4b\u8089\u300d\u3068\u300c\u6027\u5206\u5316\u300d\u3068\u3044\u3046\u4e00\u898b\u7121\u95a2\u4fc2\u306a\u75c7\u72b6\u3092\u540c\u6642\u306b\u8d77\u3053\u3059\u4ed5\u7d44\u307f\u3068\u3057\u3066\u77e5\u3089\u308c\u308b\u3088\u3046\u306b\u306a\u308a\u307e\u3057\u305f\u3002\u6b20\u5931\u7bc4\u56f2\u304c\u3055\u3089\u306b\u96a3\u63a5\u3059\u308bMTMR1\u907a\u4f1d\u5b50\u307e\u3067\u53ca\u3076\u4f8b\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<figure class=\"wp-table-block\"><table><thead><tr><th>\u907a\u4f1d\u5b50<\/th><th>\u4e3b\u306a\u50cd\u304d<\/th><th>\u6b20\u5931\u3057\u305f\u5834\u5408\u306b\u95a2\u9023\u3059\u308b\u75c7\u72b6<\/th><\/tr><\/thead><tbody><tr><td>MTM1<\/td><td>\u7b4b\u8089\u7d30\u80de\u306e\u7dad\u6301\u306b\u95a2\u308f\u308b\u9175\u7d20\u300c\u30df\u30aa\u30c1\u30e5\u30fc\u30d0\u30ea\u30f3\u300d\u3092\u4f5c\u308b<\/td><td>X\u9023\u9396\u578b\u30df\u30aa\u30c1\u30e5\u30fc\u30d0\u30e9\u30fc\u7b4b\u75c7\uff08\u91cd\u3044\u7b4b\u529b\u4f4e\u4e0b\u30fb\u547c\u5438\u4e0d\u5168\uff09\u306e\u4e2d\u5fc3\u7684\u306a\u539f\u56e0<\/td><\/tr><tr><td>MAMLD1\uff08\u65e7CXorf6\/F18\uff09<\/td><td>\u7cbe\u5de3\u304b\u3089\u306e\u7537\u6027\u30db\u30eb\u30e2\u30f3\u5206\u6ccc\u3092\u52a9\u3051\u308b\u3068\u3055\u308c\u308b<\/td><td>\u5c3f\u9053\u4e0b\u88c2\u30fb\u505c\u7559\u7cbe\u5de3\u306a\u3069\u7537\u306e\u5b50\u306e\u5916\u9670\u90e8\u767a\u9054\u7570\u5e38\u306b\u95a2\u9023<\/td><\/tr><tr><td>MTMR1<\/td><td>MTM1\u3068\u4f3c\u305f\u69cb\u9020\u3092\u6301\u3064\u9175\u7d20\u3092\u4f5c\u308b<\/td><td>\u5358\u72ec\u6b20\u5931\u3067\u306e\u75c7\u72b6\u306f\u78ba\u7acb\u3057\u3066\u3044\u306a\u3044\u304c\u3001\u5e83\u7bc4\u306a\u6b20\u5931\u306e\u4e00\u90e8\u3068\u3057\u3066\u95a2\u4e0e\u3059\u308b\u53ef\u80fd\u6027<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%80%8CXq273-q28%E9%87%8D%E8%A4%87%E7%97%87%E5%80%99%E7%BE%A4%EF%BC%88MECP2%E9%87%8D%E8%A4%87%E7%97%87%E5%80%99%E7%BE%A4%EF%BC%89%E3%80%8D%E3%81%A8%E3%81%AE%E9%81%95%E3%81%84\"><\/span><strong>\u300cXq27.3-q28\u91cd\u8907\u75c7\u5019\u7fa4\uff08MECP2\u91cd\u8907\u75c7\u5019\u7fa4\uff09\u300d\u3068\u306e\u9055\u3044<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u540c\u3058\u300cXq28\u300d\u3068\u3044\u3046\u8868\u8a18\u3092\u542b\u3080\u8a3a\u65ad\u540d\u3067\u3082\u3001\u539f\u56e0\u907a\u4f1d\u5b50\u3082\u5909\u5316\u306e\u5411\u304d\u3082\u7570\u306a\u308b\u75c5\u6c17\u304c\u3042\u308a\u307e\u3059\u3002X\u67d3\u8272\u4f53\u306e\u3055\u3089\u306b\u672b\u7aef\u5074\u3067MECP2\u907a\u4f1d\u5b50\u304c\u300c\u91cd\u8907\u300d\u3057\u3066\u8d77\u3053\u308b\u75c5\u6c17\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/xq27-3-q28-duplication-syndrome\/\">Xq27.3-q28\u91cd\u8907\u75c7\u5019\u7fa4\uff08MECP2\u91cd\u8907\u75c7\u5019\u7fa4\uff09\u306e\u89e3\u8aac\u8a18\u4e8b<\/a>\u3067\u500b\u5225\u306b\u6574\u7406\u3057\u3066\u3044\u307e\u3059\u3002\u4eca\u56de\u306eMTM1\u30fbMAMLD1\u6b20\u5931\u3068\u306f\u539f\u56e0\u907a\u4f1d\u5b50\u3082\u5909\u5316\u306e\u65b9\u5411\uff08\u6b20\u5931\u304b\u91cd\u8907\u304b\uff09\u3082\u7570\u306a\u308b\u305f\u3081\u3001\u691c\u67fb\u5831\u544a\u66f8\u306b\u8a18\u8f09\u3055\u308c\u305f\u907a\u4f1d\u5b50\u540d\u3092\u62c5\u5f53\u533b\u3068\u78ba\u8a8d\u3057\u3066\u307f\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u598a\u5a20\u4e2d\u306e\u30ea\u30b9\u30af\u7ba1\u7406\u306b<br \/>\nNIPT\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p>&nbsp;<\/p>\n<\/div>\n<\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/22349176_s.jpg\" alt=\"\u6027\u67d3\u8272\u4f53XX\u3068XY\u306e\u9055\u3044\u3092\u8868\u3059\u30a4\u30e1\u30fc\u30b8\u753b\u50cf\" class=\"wp-image-89652\"\/><\/figure><\/div>\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E4%B8%BB%E3%81%AA%E7%97%87%E7%8A%B6%EF%BC%88%E9%87%8D%E7%97%87%E5%9E%8B%E3%83%BB%E8%BB%BD%E7%97%87%E5%9E%8B%E3%83%BB%E5%A5%B3%E6%80%A7%E4%BF%9D%E5%9B%A0%E8%80%85%E3%81%A7%E7%95%B0%E3%81%AA%E3%82%8B%E7%8F%BE%E3%82%8C%E6%96%B9%EF%BC%89\"><\/span><strong>2. \u4e3b\u306a\u75c7\u72b6\uff08\u91cd\u75c7\u578b\u30fb\u8efd\u75c7\u578b\u30fb\u5973\u6027\u4fdd\u56e0\u8005\u3067\u7570\u306a\u308b\u73fe\u308c\u65b9\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u75c7\u72b6\u306f\u3001\u7b4b\u8089\u306e\u75c7\u72b6\u3068\u5916\u9670\u90e8\u306e\u75c7\u72b6\u306b\u5206\u3051\u3066\u8003\u3048\u308b\u3068\u7406\u89e3\u3057\u3084\u3059\u304f\u306a\u308a\u307e\u3059\u3002<\/strong>\u7c73\u56fd\u56fd\u7acb\u533b\u5b66\u56f3\u66f8\u9928\u304c\u5f15\u7528\u3059\u308b\u81ea\u7136\u7d4c\u904e\u7814\u7a76\u3067\u306f\u3001\u7537\u6027\u60a3\u8005\u306e\u7d0480%\u304c\u91cd\u75c7\u578b\u3001\u7d0420%\u304c\u8efd\u75c7\u30fb\u4e2d\u7b49\u75c7\u578b\u306b\u5206\u985e\u3055\u308c\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A0_%E7%94%B7%E6%80%A7%E3%81%AE%E9%87%8D%E7%97%87%E5%9E%8B%EF%BC%88%E5%8F%A4%E5%85%B8%E5%9E%8B%EF%BC%89X%E9%80%A3%E9%8E%96%E5%9E%8B%E3%83%9F%E3%82%AA%E3%83%81%E3%83%A5%E3%83%BC%E3%83%90%E3%83%A9%E3%83%BC%E7%AD%8B%E7%97%87\"><\/span><strong>\u2460 \u7537\u6027\u306e\u91cd\u75c7\u578b\uff08\u53e4\u5178\u578b\uff09X\u9023\u9396\u578b\u30df\u30aa\u30c1\u30e5\u30fc\u30d0\u30e9\u30fc\u7b4b\u75c7<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u91cd\u75c7\u578b\u3067\u306f\u3001\u80ce\u5150\u671f\u304b\u3089\u7f8a\u6c34\u904e\u591a\u3084\u80ce\u52d5\u306e\u6e1b\u5c11\u304c\u307f\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u51fa\u751f\u5f8c\u306f\u6b21\u306e\u3088\u3046\u306a\u75c7\u72b6\u304c\u5178\u578b\u7684\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8457\u3057\u3044\u7b4b\u529b\u4f4e\u4e0b\u30fb\u7b4b\u7dca\u5f35\u4f4e\u4e0b<\/strong>\uff1a\u5168\u8eab\u306e\u7b4b\u529b\u304c\u5f31\u304f\u3001\u81ea\u529b\u3067\u306e\u547c\u5438\u304c\u96e3\u3057\u3044\u3053\u3068\u304c\u591a\u3044\u3068\u3055\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u91cd\u5ea6\u306e\u547c\u5438\u4e0d\u5168<\/strong>\uff1a\u591a\u304f\u306e\u5834\u5408\u300124\u6642\u9593\u306e\u4eba\u5de5\u547c\u5438\u5668\u306b\u3088\u308b\u30b5\u30dd\u30fc\u30c8\u304c\u5fc5\u8981\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u904b\u52d5\u767a\u9054\u306e\u5927\u5e45\u306a\u9045\u308c<\/strong>\uff1a\u81ea\u7acb\u3057\u3066\u6b69\u3051\u308b\u3088\u3046\u306b\u306a\u308b\u3053\u3068\u306f\u307e\u308c\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u7279\u5fb4\u7684\u306a\u9854\u3064\u304d\uff1a\u9762\u9577\u30fb\u9ad8\u3044\u984d\u30fb\u773c\u7403\u904b\u52d5\u306e\u969c\u5bb3\u306a\u3069\u3092\u4f34\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p>GeneReviews\u304c\u5f15\u7528\u3059\u308b\u81ea\u7136\u7d4c\u904e\u7814\u7a76\u306b\u3088\u308b\u3068\u3001\u91cd\u75c7\u578b\u306e\u7537\u5150\u306e\u7d0425%\u306f\u751f\u5f8c1\u5e74\u4ee5\u5185\u306b\u4ea1\u304f\u306a\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u751f\u5b58\u3057\u305f\u5834\u5408\u3082\u3001\u6c17\u7ba1\u5207\u958b\u306b\u3088\u308b\u4eba\u5de5\u547c\u5438\u5668\u3068\u80c3\u308d\u3046\u3067\u306e\u6804\u990a\u7ba1\u7406\u3092\u7d99\u7d9a\u3059\u308b\u3053\u3068\u304c\u591a\u3044\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u30021\u6b73\u4ee5\u964d\u3082\u5e74\u9593\u7d0410%\u306e\u6b7b\u4ea1\u7387\u304c\u7d9a\u304f\u3068\u3055\u308c\u3001\u6210\u4eba\u671f\u307e\u3067\u751f\u5b58\u3059\u308b\u4f8b\u306f\u5c11\u6570\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A1_%E7%94%B7%E6%80%A7%E3%81%AE%E8%BB%BD%E7%97%87%E5%9E%8B%E3%83%BB%E4%B8%AD%E7%AD%89%E7%97%87%E5%9E%8B\"><\/span><strong>\u2461 \u7537\u6027\u306e\u8efd\u75c7\u578b\u30fb\u4e2d\u7b49\u75c7\u578b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u7d0420%\u3092\u5360\u3081\u308b\u8efd\u75c7\u30fb\u4e2d\u7b49\u75c7\u578b\u3067\u306f\u3001\u904b\u52d5\u767a\u9054\u306e\u9045\u308c\u304c\u6bd4\u8f03\u7684\u8efd\u304f\u3001\u81ea\u7acb\u6b69\u884c\u304c\u53ef\u80fd\u306b\u306a\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u6210\u4eba\u671f\u307e\u3067\u751f\u5b58\u3059\u308b\u4f8b\u3082\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001\u307e\u308c\u306b\u4e73\u5150\u671f\u306b\u306f\u75c7\u72b6\u304c\u76ee\u7acb\u305f\u305a\u3001\u6210\u4eba\u306b\u306a\u3063\u3066\u304b\u3089\u7b4b\u529b\u4f4e\u4e0b\u304c\u9032\u884c\u3059\u308b\u9045\u767a\u578b\u3082\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u7b4b\u75be\u60a3\u305d\u306e\u3082\u306e\u306f\u3001\u6642\u9593\u3068\u3068\u3082\u306b\u6025\u6fc0\u306b\u60aa\u5316\u3059\u308b\u30bf\u30a4\u30d7\u3067\u306f\u306a\u3044\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A2_%E5%A4%96%E9%99%B0%E9%83%A8%E3%83%BB%E6%80%A7%E5%88%86%E5%8C%96%E3%81%AE%E7%95%B0%E5%B8%B8\"><\/span><strong>\u2462 \u5916\u9670\u90e8\u30fb\u6027\u5206\u5316\u306e\u7570\u5e38<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6b20\u5931\u7bc4\u56f2\u304cMAMLD1\u306b\u53ca\u3076\u5834\u5408\u3001\u7537\u306e\u5b50\u306b\u306f\u6b21\u306e\u3088\u3046\u306a\u5916\u9670\u90e8\u306e\u767a\u9054\u7570\u5e38\u304c\u52a0\u308f\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5c3f\u9053\u4e0b\u88c2<\/strong>\uff1a\u5c3f\u9053\u306e\u51fa\u53e3\u304c\u672c\u6765\u306e\u4f4d\u7f6e\u3088\u308a\u3082\u4e0b\u306b\u305a\u308c\u3066\u3044\u308b\u72b6\u614b\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u505c\u7559\u7cbe\u5de3<\/strong>\uff1a\u7cbe\u5de3\u304c\u9670\u56a2\u307e\u3067\u4e0b\u308a\u3066\u304d\u3066\u3044\u306a\u3044\u72b6\u614b\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u3042\u3044\u307e\u3044\u306a\u5916\u9670\u90e8\uff1a<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/testing\/#anchor_sex\">\u6027\u5225<\/a>\u306e\u5224\u5b9a\u304c\u51fa\u751f\u6642\u70b9\u3067\u306f\u96e3\u3057\u3044\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u3053\u308c\u3089\u306e\u75c7\u72b6\u306f\u30011996\u5e74\u306eHu\u3089\u306e\u5831\u544a\u3092\u306f\u3058\u3081\u3068\u3059\u308b\u8907\u6570\u306e\u5bb6\u7cfb\u7814\u7a76\u3067\u3001MTM1\u5358\u72ec\u306e\u5909\u7570\u3092\u6301\u3064\u60a3\u8005\u306b\u306f\u898b\u3089\u308c\u306a\u3044\u7279\u5fb4\u3068\u3057\u3066\u8a18\u9332\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A3_%E5%A5%B3%E6%80%A7%E4%BF%9D%E5%9B%A0%E8%80%85%E3%81%AE%E7%97%87%E7%8A%B6\"><\/span><strong>\u2463 \u5973\u6027\u4fdd\u56e0\u8005\u306e\u75c7\u72b6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5973\u6027\u306fX\u67d3\u8272\u4f53\u30922\u672c\u6301\u3064\u305f\u3081\u30011\u672c\u306b\u6b20\u5931\u304c\u3042\u3063\u3066\u3082\u3082\u30461\u672c\u304c\u6a5f\u80fd\u3092\u88dc\u3044\u3001\u591a\u304f\u306e\u5834\u5408\u306f\u7121\u75c7\u72b6\u306e\u4fdd\u56e0\u8005\u306b\u3068\u3069\u307e\u308a\u307e\u3059\u3002\u305f\u3060\u3057\u3001X\u67d3\u8272\u4f53\u306e\u4e0d\u6d3b\u5316\u304c\u504f\u308b\u3068\u75c7\u72b6\u3092\u793a\u3059\u4fdd\u56e0\u8005\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u75c7\u72b6\u306e\u7a0b\u5ea6\u306f\u3001\u5c0f\u5150\u671f\u306b\u767a\u75c7\u3059\u308b\u5168\u8eab\u7684\u306a\u7b4b\u529b\u4f4e\u4e0b\u304b\u3089\u3001\u6210\u4eba\u671f\u306b\u307f\u3089\u308c\u308b\u5de6\u53f3\u5dee\u306e\u3042\u308b\u8efd\u3044\u7b4b\u529b\u4f4e\u4e0b\u307e\u3067\u5e45\u304c\u3042\u308a\u307e\u3059\u3002\u6210\u4eba\u671f\u306b\u547c\u5438\u6a5f\u80fd\u306e\u4f4e\u4e0b\u304c\u9032\u307f\u3001\u4eba\u5de5\u547c\u5438\u5668\u304c\u5fc5\u8981\u306b\u306a\u308b\u5973\u6027\u60a3\u8005\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"426\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/31295073_s.jpg\" alt=\"\u65b0\u751f\u5150\u306e\u5c0f\u3055\u306a\u624b\u3092\u512a\u3057\u304f\u5305\u307f\u8fbc\u3080\u5bb6\u65cf\u306e\u30a4\u30e1\u30fc\u30b8\" class=\"wp-image-87378\"\/><\/figure><\/div>\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E5%8E%9F%E5%9B%A0%E3%81%A8%E9%81%BA%E4%BC%9D%E3%81%AE%E4%BB%95%E7%B5%84%E3%81%BF%EF%BC%88X%E9%80%A3%E9%8E%96%E6%80%A7%E9%81%BA%E4%BC%9D%EF%BC%89\"><\/span><strong>3. \u539f\u56e0\u3068\u907a\u4f1d\u306e\u4ed5\u7d44\u307f\uff08X\u9023\u9396\u6027\u907a\u4f1d\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u3053\u306e\u75c5\u6c17\u306fX\u67d3\u8272\u4f53\u4e0a\u306e\u907a\u4f1d\u5b50\u6b20\u5931\u304c\u539f\u56e0\u306e\u305f\u3081\u3001\u7537\u5973\u3067\u75c7\u72b6\u306e\u51fa\u65b9\u304c\u5927\u304d\u304f\u7570\u306a\u308a\u307e\u3059\u3002<\/strong><\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%94%B7%E5%A5%B3%E3%81%A7%E7%97%87%E7%8A%B6%E3%81%AE%E9%87%8D%E3%81%95%E3%81%8C%E5%A4%89%E3%82%8F%E3%82%8B%E7%90%86%E7%94%B1\"><\/span><strong>\u7537\u5973\u3067\u75c7\u72b6\u306e\u91cd\u3055\u304c\u5909\u308f\u308b\u7406\u7531<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u7537\u6027\u306fX\u67d3\u8272\u4f53\u30921\u672c\u3057\u304b\u6301\u305f\u306a\u3044\u305f\u3081\u3001\u305d\u306e1\u672c\u306b\u6b20\u5931\u304c\u3042\u308b\u3068\u88dc\u3046\u907a\u4f1d\u5b50\u304c\u306a\u304f\u3001\u75c7\u72b6\u304c\u306f\u3063\u304d\u308a\u73fe\u308c\u307e\u3059\u3002\u5973\u6027\u306fX\u67d3\u8272\u4f53\u30922\u672c\u6301\u3064\u305f\u3081\u3001\u3082\u3046\u7247\u65b9\u306e\u5065\u5eb7\u306aX\u67d3\u8272\u4f53\u304c\u6a5f\u80fd\u3092\u88dc\u3044\u3001\u7121\u75c7\u72b6\u304b\u8efd\u75c7\u3067\u6e08\u3080\u3053\u3068\u304c\u591a\u3044\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u73fe\u308c\u65b9\u306f\u3001\u7537\u6027\u3067\u75c7\u72b6\u304c\u51fa\u3084\u3059\u304f\u5973\u6027\u3067\u306f\u73fe\u308c\u306b\u304f\u3044\u300cX\u9023\u9396\u6f5c\u6027\u907a\u4f1d\u300d\u306b\u8fd1\u3044\u6027\u8cea\u3068\u3057\u3066\u6574\u7406\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%83%87%E3%83%8E%E3%83%9C%EF%BC%88%E6%96%B0%E7%94%9F%E7%AA%81%E7%84%B6%E5%A4%89%E7%95%B0%EF%BC%89%E3%81%A8%E5%AE%B6%E6%97%8F%E5%86%85%E4%BC%9D%E9%81%94\"><\/span><strong>\u30c7\u30ce\u30dc\uff08\u65b0\u751f\u7a81\u7136\u5909\u7570\uff09\u3068\u5bb6\u65cf\u5185\u4f1d\u9054<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>GeneReviews\u306b\u3088\u308b\u3068\u3001\u7537\u5150\u304c\u767a\u7aef\u8005\u3067\u5bb6\u7cfb\u5185\u306b\u4ed6\u306e\u60a3\u8005\u304c\u3044\u306a\u3044\u5834\u5408\u3001\u6bcd\u89aa\u304c\u4fdd\u56e0\u8005\u3067\u3042\u308b\u78ba\u7387\u306f\u7d0480\u301c90%\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u6b8b\u308b\u7d0410\u301c20%\u306f\u3001\u53d7\u7cbe\u5375\u304c\u3067\u304d\u308b\u904e\u7a0b\u3067\u5076\u7136\u305d\u306e\u90e8\u5206\u304c\u6b20\u3051\u305f\u300c\u30c7\u30ce\u30dc\uff08\u5076\u767a\u7684\u306a\u65b0\u751f\u7a81\u7136\u5909\u7570\uff09\u300d\u306b\u3088\u308b\u3082\u306e\u3067\u3059\u3002<strong>\u598a\u5a20\u4e2d\u306e\u98df\u4e8b\u3084\u751f\u6d3b\u7fd2\u6163\u304c\u539f\u56e0\u3067\u8d77\u3053\u308b\u3082\u306e\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/strong><\/p>\n\n\n\n<p>\u300c\u89aa\u306e\u305b\u3044\u3067\u75c5\u6c17\u306b\u306a\u3063\u305f\u300d\u3068\u3054\u81ea\u8eab\u3092\u8cac\u3081\u308b\u3054\u5bb6\u65cf\u3082\u3044\u3089\u3063\u3057\u3083\u3044\u307e\u3059\u304c\u3001\u907a\u4f1d\u5b50\u306e\u5909\u5316\u306f\u8ab0\u306b\u3067\u3082\u8d77\u3053\u308a\u3046\u308b\u81ea\u7136\u306a\u73fe\u8c61\u3067\u3042\u308a\u3001\u8ab0\u306e\u8cac\u4efb\u3067\u3082\u3042\u308a\u307e\u305b\u3093\u3002\u6b21\u306e\u304a\u5b50\u3055\u307e\u3078\u306e\u5f71\u97ff\u3092\u8003\u3048\u308b\u969b\u306f\u3001\u6bcd\u89aa\u306e\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u3092\u884c\u3046\u3053\u3068\u3067\u3001\u4fdd\u56e0\u8005\u304b\u30c7\u30ce\u30dc\u304b\u3092\u898b\u6975\u3081\u308b\u624b\u304c\u304b\u308a\u306b\u306a\u308a\u307e\u3059\u3002GeneReviews\u3067\u3082\u3001\u6bcd\u89aa\u306e\u767d\u8840\u7403DNA\u3067\u5909\u7570\u304c\u898b\u3064\u304b\u3089\u306a\u3044\u5834\u5408\u3067\u3082\u3001\u5375\u5de3\u5185\u3060\u3051\u306b\u5909\u7570\u7d30\u80de\u304c\u5b58\u5728\u3059\u308b\u300c\u80da\u7d30\u80de<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mosaicism\/\">\u30e2\u30b6\u30a4\u30af<\/a>\u300d\u306e\u53ef\u80fd\u6027\u304c\u3042\u308b\u305f\u3081\u3001\u6b21\u5b50\u306e\u51fa\u751f\u524d\u691c\u67fb\u306b\u3064\u3044\u3066\u76f8\u8ac7\u3059\u308b\u610f\u7fa9\u304c\u3042\u308b\u3068\u8aac\u660e\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u598a\u5a20\u4e2d\u306e\u30ea\u30b9\u30af\u7ba1\u7406\u306b<br \/>\nNIPT\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p>&nbsp;<\/p>\n<\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E5%87%BA%E7%94%9F%E5%89%8D%E8%A8%BA%E6%96%AD%E3%83%BBNIPT%E3%81%A8%E3%81%AE%E9%96%A2%E4%BF%82\"><\/span><strong>4. \u51fa\u751f\u524d\u8a3a\u65ad\u30fbNIPT\u3068\u306e\u95a2\u4fc2<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u67d3\u8272\u4f53<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/xq28-deletion-syndrome\/\">Xq28\u6b20\u5931\u75c7\u5019\u7fa4<\/a>\u306f\u3001\u6a19\u6e96\u7684\u306aNIPT\u306e\u5bfe\u8c61\u306b\u306f\u542b\u307e\u308c\u305a\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u307e\u3067\u5bfe\u8c61\u3092\u5e83\u3052\u305f\u62e1\u5927\u691c\u67fb\u3067\u3082\u3001\u540d\u6307\u3057\u3067\u691c\u67fb\u5bfe\u8c61\u306b\u542b\u3080\u4f1a\u793e\u306f\u9650\u3089\u308c\u308b\u3054\u304f\u307e\u308c\u306a\u9818\u57df\u3067\u3059\u3002<\/strong><\/p>\n\n\n\n<p>\u4e00\u822c\u7684\u306a\u57fa\u672cNIPT\u304c\u8abf\u3079\u308b\u306e\u306f\u300121\u30fb18\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/patau-syndrome\/\">13\u30c8\u30ea\u30bd\u30df\u30fc<\/a>\u3068\u3044\u3046\u67d3\u8272\u4f53\u306e\u300c\u6570\u300d\u306e\u5909\u5316\u304c\u4e2d\u5fc3\u3067\u3059\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-chromosome-abnormality\/\">NIPT\u3067\u308f\u304b\u308b\u67d3\u8272\u4f53\u7570\u5e38\u306e\u7a2e\u985e\u306b\u3064\u3044\u3066\u306e\u8a18\u4e8b<\/a>\u3067\u89e3\u8aac\u3057\u3066\u3044\u308b\u3068\u304a\u308a\u3001\u62e1\u5927\u30d7\u30e9\u30f3\u3067\u306f\u6bd4\u8f03\u7684\u983b\u5ea6\u306e\u9ad8\u3044<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u3082\u5bfe\u8c61\u306b\u542b\u307e\u308c\u307e\u3059\u3002\u305f\u3060\u3057MTM1\u30fbMAMLD1\u306b\u307e\u305f\u304c\u308bXq28\u6b20\u5931\u306f\u5831\u544a\u4f8b\u304c\u9650\u3089\u308c\u308b\u5e0c\u5c11\u306a\u9818\u57df\u306e\u305f\u3081\u3001\u5bfe\u8c61\u306b\u542b\u3081\u308b\u304b\u3069\u3046\u304b\u306f\u691c\u67fb\u4f1a\u793e\u3084\u30d7\u30e9\u30f3\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u307e\u3059\u3002\u691c\u8a0e\u4e2d\u306e\u30d7\u30e9\u30f3\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u5bfe\u8c61\u7bc4\u56f2\u3092\u4e8b\u524d\u306b\u78ba\u8a8d\u3057\u3066\u304a\u304f\u3068\u5b89\u5fc3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u79c1\u305f\u3061\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30afNIPT\u306b\u3082\u3001\u300c\u62e1\u5927\u691c\u67fb\u3067\u805e\u3044\u305f\u3053\u3068\u306e\u306a\u3044\u907a\u4f1d\u5b50\u540d\u304c\u5019\u88dc\u306b\u6319\u304c\u3063\u305f\u3089\u3069\u3046\u3059\u308c\u3070\u3088\u3044\u304b\u300d\u3068\u3044\u3046\u3054\u76f8\u8ac7\u304c\u5bc4\u305b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u307e\u305a\u77e5\u3063\u3066\u3044\u305f\u3060\u304d\u305f\u3044\u306e\u306f\u3001<strong>NIPT\u306f\u3042\u304f\u307e\u3067\u975e\u78ba\u5b9a\u7684\u306a\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u691c\u67fb<\/strong>\u3060\u3068\u3044\u3046\u70b9\u3067\u3059\u3002\u516c\u76ca\u793e\u56e3\u6cd5\u4eba\u65e5\u672c\u7523\u79d1\u5a66\u4eba\u79d1\u5b66\u4f1a\u306e<a href=\"https:\/\/www.jsog.or.jp\/news\/pdf\/NIPT_kaiteishishin.pdf\" target=\"_blank\" rel=\"noopener\">NIPT\u306b\u95a2\u3059\u308b\u6307\u91dd<\/a>\u3067\u3082\u3001NIPT\u306e\u7d50\u679c\u306f\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u691c\u67fb\u306e\u7bc4\u56f2\u306b\u3068\u3069\u307e\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u78ba\u5b9a\u8a3a\u65ad\u306b\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u306a\u3069\u306e\u4fb5\u8972\u7684\u306a\u691c\u67fb\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001MTM1\u95a2\u9023\u75be\u60a3\u306f\u3001\u5bb6\u65cf\u5185\u3067\u3059\u3067\u306b\u539f\u56e0\u3068\u306a\u308b\u907a\u4f1d\u5b50\u5909\u7570\u304c\u7279\u5b9a\u3055\u308c\u3066\u3044\u308b\u5834\u5408\u306b\u9650\u308a\u3001\u305d\u306e\u5909\u7570\u3092\u5bfe\u8c61\u3068\u3057\u305f\u51fa\u751f\u524d\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u3084\u7740\u5e8a\u524d\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u304c\u9078\u629e\u80a2\u306b\u306a\u308a\u5f97\u307e\u3059\u3002GeneReviews\u3067\u3082\u3001\u5bb6\u7cfb\u5185\u3067MTM1\u5909\u7570\u304c\u78ba\u8a8d\u3055\u308c\u3066\u3044\u308c\u3070\u3001\u6b21\u306e\u598a\u5a20\u3067\u306e\u51fa\u751f\u524d\u691c\u67fb\u304c\u53ef\u80fd\u3060\u3068\u8aac\u660e\u3055\u308c\u3066\u3044\u307e\u3059\u3002NIPT\u3067\u967d\u6027\u6240\u898b\u304c\u51fa\u305f\u5834\u5408\u3084\u5bb6\u65cf\u6b74\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u307e\u305a\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u691c\u67fb\u306e\u610f\u5473\u3092\u78ba\u8a8d\u3057\u3001\u305d\u306e\u4e0a\u3067<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u306a\u3069\u3092\u53d7\u3051\u308b\u304b\u3069\u3046\u304b\u3092\u5224\u65ad\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"5_%E8%A8%BA%E6%96%AD%E3%81%A8%E6%A4%9C%E6%9F%BB\"><\/span><strong>5. \u8a3a\u65ad\u3068\u691c\u67fb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u8a3a\u65ad\u3092\u78ba\u5b9a\u3055\u305b\u308b\u305f\u3081\u306b\u306f\u3001\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u3092\u4e2d\u5fc3\u306b\u3001\u81e8\u5e8a\u6240\u898b\u3084\u753b\u50cf\u691c\u67fb\u3092\u7d44\u307f\u5408\u308f\u305b\u307e\u3059\u3002<\/strong><\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A0_%E9%81%BA%E4%BC%9D%E5%AD%A6%E7%9A%84%E6%A4%9C%E6%9F%BB%EF%BC%88MTM1%E3%83%BBMAMLD1%E3%81%AE%E5%A4%89%E7%95%B0%E8%A7%A3%E6%9E%90%EF%BC%89\"><\/span><strong>\u2460 \u907a\u4f1d\u5b66\u7684\u691c\u67fb\uff08MTM1\u30fbMAMLD1\u306e\u5909\u7570\u89e3\u6790\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>MTM1\u907a\u4f1d\u5b50\u306e\u914d\u5217\u89e3\u6790\u3084\u3001\u67d3\u8272\u4f53<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u691c\u67fb\uff08CMA\uff09\u306b\u3088\u308b\u6b20\u5931\u7bc4\u56f2\u306e\u7279\u5b9a\u304c\u8a3a\u65ad\u306e\u4e2d\u5fc3\u3067\u3059\u3002\u901a\u5e38\u306e\u67d3\u8272\u4f53\u691c\u67fb\uff08G\u30d0\u30f3\u30c9\u6cd5\uff09\u3067\u306f\u898b\u3064\u3051\u3089\u308c\u306a\u3044\u5fae\u7d30\u306a\u6b20\u5931\u3082\u691c\u51fa\u3067\u304d\u3001MTM1\u30fbMAMLD1\u30fbMTMR1\u306e\u3069\u3053\u307e\u3067\u304c\u542b\u307e\u308c\u308b\u304b\u3092\u6b63\u78ba\u306b\u8abf\u3079\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A1_%E8%87%A8%E5%BA%8A%E6%89%80%E8%A6%8B%E3%81%A8%E7%AD%8B%E7%94%9F%E6%A4%9C\"><\/span><strong>\u2461 \u81e8\u5e8a\u6240\u898b\u3068\u7b4b\u751f\u691c<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u65b0\u751f\u5150\u671f\u306e\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u30fb\u547c\u5438\u4e0d\u5168\u30fb\u505c\u7559\u7cbe\u5de3\u30fb\u9577\u3044\u6307\u3068\u3044\u3063\u305f\u7279\u5fb4\u7684\u306a\u6240\u898b\u304c\u8a3a\u65ad\u306e\u624b\u304c\u304b\u308a\u306b\u306a\u308a\u307e\u3059\u3002\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u7b4b\u751f\u691c\u3092\u884c\u3044\u3001\u7b4b\u7dda\u7dad\u306e\u4e2d\u5fc3\u306b\u6838\u304c\u96c6\u307e\u308b\u7279\u5fb4\u7684\u306a\u7d44\u7e54\u50cf\u3092\u78ba\u8a8d\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A2_%E5%87%BA%E7%94%9F%E5%BE%8C%E3%81%AE%E5%85%A8%E8%BA%AB%E8%A9%95%E4%BE%A1\"><\/span><strong>\u2462 \u51fa\u751f\u5f8c\u306e\u5168\u8eab\u8a55\u4fa1<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u547c\u5438\u6a5f\u80fd\u30fb\u6804\u990a\u72b6\u614b\u30fb\u5916\u9670\u90e8\u306e\u72b6\u614b\u3092\u542b\u3081\u305f\u5168\u8eab\u306e\u8a55\u4fa1\u3092\u884c\u3044\u307e\u3059\u3002\u5c0f\u5150\u795e\u7d4c\u79d1\u30fb\u6ccc\u5c3f\u5668\u79d1\u30fb\u907a\u4f1d\u8a3a\u7642\u79d1\u304c\u9023\u643a\u3057\u3001\u6cbb\u7642\u65b9\u91dd\u3092\u691c\u8a0e\u3057\u307e\u3059\u3002<\/p>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u598a\u5a20\u4e2d\u306e\u30ea\u30b9\u30af\u7ba1\u7406\u306b<br \/>\nNIPT\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p>&nbsp;<\/p>\n<\/div>\n<\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/24156031_s.jpg\" alt=\"\u751f\u307e\u308c\u3066\u304d\u305f\u5b50\u3069\u3082\u3092\u898b\u5b88\u308b\u5bb6\u65cf\u306e\u69d8\u5b50\u3092\u8868\u3059\u30a4\u30e1\u30fc\u30b8\" class=\"wp-image-87708\"\/><\/figure><\/div>\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"6_%E6%B2%BB%E7%99%82%E3%81%A8%E7%AE%A1%E7%90%86\"><\/span><strong>6. \u6cbb\u7642\u3068\u7ba1\u7406<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u6b20\u3051\u3066\u3044\u308b\u907a\u4f1d\u5b50\u305d\u306e\u3082\u306e\u3092\u4fee\u5fa9\u3059\u308b\u6cbb\u7642\u6cd5\u306f\u307e\u3060\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u304c\u3001\u75c7\u72b6\u3092\u548c\u3089\u3052\u308b\u5bfe\u75c7\u7642\u6cd5\u3068\u591a\u8077\u7a2e\u306b\u3088\u308b\u7d99\u7d9a\u7684\u306a\u7ba1\u7406\u304c\u975e\u5e38\u306b\u91cd\u8981\u3067\u3059\u3002<\/strong><\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%91%BC%E5%90%B8%E7%AE%A1%E7%90%86\"><\/span><strong>\u547c\u5438\u7ba1\u7406<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u91cd\u75c7\u578b\u3067\u306f\u3001\u6c17\u7ba1\u5207\u958b\u306b\u3088\u308b24\u6642\u9593\u306e\u4eba\u5de5\u547c\u5438\u5668\u7ba1\u7406\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u547c\u5438\u5668\u5185\u79d1\u30fb\u5c0f\u5150\u547c\u5438\u5668\u79d1\u306b\u3088\u308b\u5b9a\u671f\u7684\u306a\u8a55\u4fa1\u304c\u6b20\u304b\u305b\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%A0%84%E9%A4%8A%E7%AE%A1%E7%90%86\"><\/span><strong>\u6804\u990a\u7ba1\u7406<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u56a5\u4e0b\u3084\u6d88\u5316\u7ba1\u6a5f\u80fd\u306e\u554f\u984c\u3092\u4f34\u3046\u5834\u5408\u306f\u3001\u80c3\u308d\u3046\u306b\u3088\u308b\u6804\u990a\u7ba1\u7406\u3092\u884c\u3044\u307e\u3059\u3002\u6210\u9577\u306b\u5408\u308f\u305b\u3066\u6804\u990a\u8a08\u753b\u3092\u898b\u76f4\u3059\u3053\u3068\u3082\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%8B%E5%8B%95%E3%83%BB%E3%83%AA%E3%83%8F%E3%83%93%E3%83%AA%E3%83%86%E3%83%BC%E3%82%B7%E3%83%A7%E3%83%B3\"><\/span><strong>\u904b\u52d5\u30fb\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u7406\u5b66\u7642\u6cd5\u30fb\u4f5c\u696d\u7642\u6cd5\u3092\u901a\u3058\u3066\u3001\u6b8b\u3063\u3066\u3044\u308b\u7b4b\u529b\u3092\u7dad\u6301\u3057\u3001\u62d8\u7e2e\uff08\u95a2\u7bc0\u304c\u786c\u304f\u306a\u308b\u3053\u3068\uff09\u3092\u9632\u3050\u3053\u3068\u3092\u76ee\u6307\u3057\u307e\u3059\u3002\u88c5\u5177\u3084\u8eca\u6905\u5b50\u3092\u6d3b\u7528\u3057\u306a\u304c\u3089\u3001\u3067\u304d\u308b\u3053\u3068\u3092\u4e00\u3064\u305a\u3064\u5897\u3084\u3057\u3066\u3044\u304f\u95a2\u308f\u308a\u304c\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%A4%96%E9%99%B0%E9%83%A8%E7%95%B0%E5%B8%B8%E3%81%B8%E3%81%AE%E5%AF%BE%E5%BF%9C\"><\/span><strong>\u5916\u9670\u90e8\u7570\u5e38\u3078\u306e\u5bfe\u5fdc<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5c3f\u9053\u4e0b\u88c2\u3084\u505c\u7559\u7cbe\u5de3\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u5c0f\u5150\u5916\u79d1\u30fb\u6ccc\u5c3f\u5668\u79d1\u306b\u3088\u308b\u624b\u8853\u7684\u306a\u6cbb\u7642\u304c\u691c\u8a0e\u3055\u308c\u307e\u3059\u3002\u624b\u8853\u306e\u6642\u671f\u3084\u65b9\u6cd5\u306f\u3001\u5916\u9670\u90e8\u306e\u72b6\u614b\u306b\u5fdc\u3058\u3066\u5c02\u9580\u533b\u304c\u5224\u65ad\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u79c1\u81ea\u8eab\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u73fe\u5834\u3067\u3001\u8907\u6570\u306e\u8a3a\u7642\u79d1\u306b\u307e\u305f\u304c\u308b\u5e0c\u5c11\u75be\u60a3\u306e\u3054\u5bb6\u65cf\u304b\u3089\u300c\u3069\u306e\u79d1\u304b\u3089\u76f8\u8ac7\u3092\u59cb\u3081\u308c\u3070\u3088\u3044\u304b\u5206\u304b\u3089\u306a\u3044\u300d\u3068\u3044\u3046\u304a\u60a9\u307f\u3092\u4f3a\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u7b54\u3048\u306f\u4e00\u3064\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u5c0f\u5150\u795e\u7d4c\u79d1\u307e\u305f\u306f\u907a\u4f1d\u8a3a\u7642\u79d1\u3092\u7a93\u53e3\u306b\u3057\u3066\u3001\u5fc5\u8981\u306a\u5c02\u9580\u79d1\u3078\u3064\u306a\u3044\u3067\u3082\u3089\u3046\u4f53\u5236\u3092\u65e9\u3081\u306b\u6574\u3048\u308b\u3053\u3068\u304c\u3001\u9053\u7b4b\u3092\u7acb\u3066\u308b\u52a9\u3051\u306b\u306a\u308b\u3068\u611f\u3058\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"7_%E3%81%BE%E3%81%A8%E3%82%81%EF%BC%9A%E7%97%85%E6%B0%97%E3%81%A8%E3%81%AE%E4%BB%98%E3%81%8D%E5%90%88%E3%81%84%E6%96%B9\"><\/span><strong>7. \u307e\u3068\u3081\uff1a\u75c5\u6c17\u3068\u306e\u4ed8\u304d\u5408\u3044\u65b9<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u67d3\u8272\u4f53<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/xq28-deletion-syndrome\/\">Xq28\u6b20\u5931\u75c7\u5019\u7fa4<\/a>\u306f\u3001\u7b4b\u8089\u3068\u5916\u9670\u90e8\u3068\u3044\u3046\u4e00\u898b\u7570\u306a\u308b\u9818\u57df\u306b\u5f71\u97ff\u304c\u53ca\u3076\u3001\u9023\u7d9a\u907a\u4f1d\u5b50\u75c7\u5019\u7fa4\u306a\u3089\u3067\u306f\u306e\u75be\u60a3\u3067\u3059\u3002<\/strong>\u30dd\u30a4\u30f3\u30c8\u3092\u6574\u7406\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>\u65e9\u671f\u306e\u547c\u5438\u30fb\u6804\u990a\u7ba1\u7406\u304c\u9375<\/strong>\uff1a\u65b0\u751f\u5150\u671f\u304b\u3089\u306e\u9069\u5207\u306a\u4eba\u5de5\u547c\u5438\u5668\u30fb\u6804\u990a\u7ba1\u7406\u304c\u3001\u305d\u306e\u5f8c\u306e\u7d4c\u904e\u3092\u5de6\u53f3\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5305\u62ec\u7684\u306a\u533b\u7642\u4f53\u5236<\/strong>\uff1a\u5c0f\u5150\u795e\u7d4c\u79d1\u30fb\u547c\u5438\u5668\u79d1\u30fb\u6ccc\u5c3f\u5668\u79d1\u30fb\u907a\u4f1d\u8a3a\u7642\u79d1\u306a\u3069\u3001\u8907\u6570\u306e\u5c02\u9580\u533b\u306b\u3088\u308b\u30c1\u30fc\u30e0\u533b\u7642\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5b9a\u671f\u691c\u8a3a\u3092\u6b20\u304b\u3055\u306a\u3044<\/strong>\uff1a\u75c7\u72b6\u304c\u843d\u3061\u7740\u3044\u3066\u898b\u3048\u3066\u3082\u3001\u4f53\u306e\u4e2d\u306e\u5909\u5316\u3092\u898b\u9003\u3055\u306a\u3044\u305f\u3081\u306b\u901a\u9662\u3092\u7d99\u7d9a\u3059\u308b\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/li>\n<\/ol>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"8_%E5%AE%B6%E6%97%8F%E3%81%B8%E3%81%AE%E3%83%A1%E3%83%83%E3%82%BB%E3%83%BC%E3%82%B8\"><\/span><strong>8. \u5bb6\u65cf\u3078\u306e\u30e1\u30c3\u30bb\u30fc\u30b8<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u8a3a\u65ad\u540d\u306f\u3001\u304a\u5b50\u3055\u307e\u306e\u7279\u5fb4\u306e\u4e00\u90e8\u3092\u793a\u3059\u30e9\u30d9\u30eb\u306b\u904e\u304e\u305a\u3001\u6210\u9577\u305d\u306e\u3082\u306e\u3092\u6c7a\u3081\u308b\u3082\u306e\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/strong><\/p>\n\n\n\n<p>\u5927\u5207\u306a\u304a\u5b50\u3055\u307e\u306b\u300c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosomal-abnormality\/\">\u67d3\u8272\u4f53\u7570\u5e38<\/a>\u300d\u300c\u907a\u4f1d\u6027\u75be\u60a3\u300d\u3068\u3044\u3046\u8a3a\u65ad\u304c\u3064\u3044\u305f\u3068\u304d\u3001\u3054\u5bb6\u65cf\u304c\u611f\u3058\u308b\u30b7\u30e7\u30c3\u30af\u3084\u4e0d\u5b89\u306f\u8a08\u308a\u77e5\u308c\u307e\u305b\u3093\u3002\u300c\u5c06\u6765\u3069\u3046\u306a\u308b\u306e\u3060\u308d\u3046\u300d\u3068\u3001\u7b54\u3048\u306e\u306a\u3044\u554f\u3044\u306b\u82e6\u3057\u307e\u308c\u308b\u3053\u3068\u3082\u3042\u308b\u3067\u3057\u3087\u3046\u3002\u305d\u308c\u3067\u3082\u3001\u4eba\u5de5\u547c\u5438\u5668\u3084\u80c3\u308d\u3046\u3092\u4f7f\u3044\u306a\u304c\u3089\u3001\u5bb6\u65cf\u3068\u7a4f\u3084\u304b\u306a\u6642\u9593\u3092\u7a4d\u307f\u91cd\u306d\u3066\u3044\u308b\u304a\u5b50\u3055\u307e\u3084\u3001\u6210\u4eba\u671f\u307e\u3067\u5143\u6c17\u306b\u904e\u3054\u3057\u3066\u3044\u308b\u60a3\u8005\u3055\u3093\u306e\u5831\u544a\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u533b\u7642\u306f\u65e5\u9032\u6708\u6b69\u3067\u9032\u6b69\u3057\u3066\u3044\u307e\u3059\u3002\u547c\u5438\u7ba1\u7406\u3084\u6804\u990a\u7ba1\u7406\u306e\u6280\u8853\u306f\u3001\u4ee5\u524d\u306b\u6bd4\u3079\u3066\u683c\u6bb5\u306b\u5411\u4e0a\u3057\u307e\u3057\u305f\u3002\u4e3b\u6cbb\u533b\u3084\u770b\u8b77\u5e2b\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u306f\u3001\u3054\u5bb6\u65cf\u306e\u5f37\u3044\u5473\u65b9\u3067\u3059\u3002\u5206\u304b\u3089\u306a\u3044\u3053\u3068\u3001\u4e0d\u5b89\u306a\u3053\u3068\u306f\u9060\u616e\u306a\u304f\u8cea\u554f\u3057\u3066\u304f\u3060\u3055\u3044\u3002\u3088\u308a\u5c02\u9580\u7684\u306a\u76f8\u8ac7\u5148\u3068\u3057\u3066<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/obgyn\/\">\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306b\u3064\u3044\u3066\u306e\u89e3\u8aac\u30da\u30fc\u30b8<\/a>\u3082\u3042\u308f\u305b\u3066\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<p>\u79c1\u81ea\u8eab\u3001\u3053\u3046\u3057\u305f\u5e0c\u5c11\u306a\u67d3\u8272\u4f53\u75be\u60a3\u306b\u95a2\u3059\u308b\u3054\u76f8\u8ac7\u3092\u4f3a\u3046\u4e2d\u3067\u3001\u75c5\u540d\u306e\u73cd\u3057\u3055\u306b\u53cd\u3057\u3066\u300c\u540c\u3058\u7d4c\u9a13\u3092\u3057\u305f\u4eba\u304c\u8eab\u8fd1\u306b\u3044\u306a\u3044\u300d\u3068\u3044\u3046\u5b64\u72ec\u611f\u306e\u5927\u304d\u3055\u3092\u611f\u3058\u3066\u304d\u307e\u3057\u305f\u3002\u3060\u304b\u3089\u3053\u305d\u3001\u516c\u7684\u6a5f\u95a2\u306e\u4e00\u6b21\u60c5\u5831\u306b\u3082\u3068\u3065\u304f\u89e3\u8aac\u3092\u6b8b\u3057\u3066\u304a\u304f\u610f\u7fa9\u304c\u3042\u308b\u3068\u8003\u3048\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5e0c\u5c11\u306a\u75c5\u6c17\u3067\u3059\u304c\u3001\u60a3\u8005registry\u3084\u60a3\u8005\u4f1a\u3092\u901a\u3058\u3066\u3001\u540c\u3058\u3088\u3046\u306a\u7d4c\u9a13\u3092\u6301\u3064\u5bb6\u65cf\u3068\u3064\u306a\u304c\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u3053\u306e\u89e3\u8aac\u30da\u30fc\u30b8\u304c\u3001\u3054\u5bb6\u65cf\u306b\u3068\u3063\u3066\u5c11\u3057\u3067\u3082\u9053\u3057\u308b\u3079\u3068\u306a\u308a\u3001\u524d\u5411\u304d\u306a\u4e00\u6b69\u3092\u8e0f\u307f\u51fa\u3059\u52a9\u3051\u306b\u306a\u308c\u3070\u5e78\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u540c\u3058Xq28\u9818\u57df\u3067\u539f\u56e0\u907a\u4f1d\u5b50\u304c\u7570\u306a\u308b\u75c5\u6c17\u304c\u6c17\u306b\u306a\u308b\u65b9\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/xq27-3-q28-duplication-syndrome\/\">Xq27.3-q28\u91cd\u8907\u75c7\u5019\u7fa4\u306b\u3064\u3044\u3066\u306e\u8a18\u4e8b<\/a>\u3001\u67d3\u8272\u4f53\u306e\u90e8\u5206\u7684\u306a\u5909\u5316\u5168\u822c\u306b\u3064\u3044\u3066\u77e5\u308a\u305f\u3044\u65b9\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-partial-deletion-guide\/\">\u67d3\u8272\u4f53\u306e\u90e8\u5206\u6b20\u5931\u3068\u306f\uff1f\u306e\u8a18\u4e8b<\/a>\u3082\u3042\u308f\u305b\u3066\u3054\u53c2\u7167\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<div class=\"wp-block-buttons is-content-justification-center is-layout-flex wp-container-core-buttons-is-layout-16018d1d wp-block-buttons-is-layout-flex\">\n<div class=\"wp-block-button\"><a class=\"wp-block-button__link wp-element-button\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/line-registration\/\" target=\"_blank\" rel=\"noopener\">LINE\u3067\u7121\u6599\u76f8\u8ac7\u3059\u308b<\/a><\/div>\n<\/div>\n\n\n\n<p>\u6b21\u306e\u304a\u5b50\u3055\u307e\u306b\u5411\u3051\u3066NIPT\u3092\u691c\u8a0e\u3059\u308b\u5834\u5408\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u3092\u3069\u3053\u307e\u3067\u5bfe\u8c61\u306b\u542b\u3080\u304b\u3067\u30d7\u30e9\u30f3\u306e\u5185\u5bb9\u304c\u5909\u308f\u308a\u307e\u3059\u3002\u3054\u81ea\u8eab\u306b\u5408\u3046\u30d7\u30e9\u30f3\u304c\u5206\u304b\u3089\u306a\u3044\u5834\u5408\u306f\u3001<strong><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/plan-finder\/\">\u30d7\u30e9\u30f3\u8a3a\u65ad<\/a><\/strong>\u3092\u8a66\u3057\u3066\u307f\u3066\u304f\u3060\u3055\u3044\u3002\u304a\u96fb\u8a71\u3067\u306e\u3054\u76f8\u8ac7\u3082\u53d7\u3051\u4ed8\u3051\u3066\u3044\u307e\u3059\u3002<a href=\"tel:0120169629\">0120-169-629<\/a>\u307e\u3067\u304a\u6c17\u8efd\u306b\u304a\u554f\u3044\u5408\u308f\u305b\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<div class=\"wp-block-buttons is-content-justification-center is-layout-flex wp-container-core-buttons-is-layout-16018d1d wp-block-buttons-is-layout-flex\">\n<div class=\"wp-block-button\"><a class=\"wp-block-button__link wp-element-button\" href=\"https:\/\/mypage-nipt-reservation.hiro-clinic.or.jp\/registration\" target=\"_blank\" rel=\"noopener\">NIPT\u306e\u4e88\u7d04\u306f\u3053\u3061\u3089<\/a><\/div>\n\n\n\n<div class=\"wp-block-button is-style-outline is-style-outline--1\"><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<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<div 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class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>X\u67d3\u8272\u4f53\u306e\u9577\u815528\u756a\u9818\u57df\u306b\u3042\u308bMTM1\u3068MAMLD1\u3068\u3044\u3046\u96a3\u308a\u5408\u3046\u907a\u4f1d\u5b50\u304c\u540c\u6642\u306b\u6b20\u3051\u308b\u3053\u3068\u3067\u8d77\u3053\u308b\u3001\u975e\u5e38\u306b\u307e\u308c\u306a\u9023\u7d9a\u907a\u4f1d\u5b50\u75c7\u5019\u7fa4\u3067\u3059\u3002\u91cd\u3044\u7b4b\u529b\u4f4e\u4e0b\u3092\u7279\u5fb4\u3068\u3059\u308bX\u9023\u9396\u578b\u30df\u30aa\u30c1\u30e5\u30fc\u30d0\u30e9\u30fc\u7b4b\u75c7\u3068\u3001\u7537\u306e\u5b50\u306e\u5916\u9670\u90e8\u306e\u767a\u9054\u7570\u5e38\u304c\u7d44\u307f\u5408\u308f\u3055\u3063\u3066\u73fe\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" 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id=\"%E9%81%BA%E4%BC%9D%E6%80%A7%E3%81%AE%E7%97%85%E6%B0%97%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82%E6%AC%A1%E3%81%AE%E5%AD%90%E3%81%AB%E3%82%82%E5%BD%B1%E9%9F%BF%E3%81%97%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u907a\u4f1d\u6027\u306e\u75c5\u6c17\u3067\u3059\u304b\u3002\u6b21\u306e\u5b50\u306b\u3082\u5f71\u97ff\u3057\u307e\u3059\u304b\u3002<span 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u306a\u3069\u306e\u78ba\u5b9a\u691c\u67fb\u3067\u5224\u65ad\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E6%A4%9C%E6%9F%BB%E3%81%A7%E7%A2%BA%E5%AE%9A%E8%A8%BA%E6%96%AD%E3%81%95%E3%82%8C%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u3069\u306e\u3088\u3046\u306a\u691c\u67fb\u3067\u78ba\u5b9a\u8a3a\u65ad\u3055\u308c\u307e\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>MTM1\u907a\u4f1d\u5b50\u306e\u914d\u5217\u89e3\u6790\u3084\u67d3\u8272\u4f53<a 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Genetics\u30fbPubMed\u306a\u3069\u306e\u516c\u7684\u6a5f\u95a2\u30fb\u5b66\u8853\u60c5\u5831\u3092\u53c2\u7167\u3057\u3066\u4f5c\u6210\u3057\u3066\u3044\u307e\u3059\u3002\u8a18\u8f09\u306e\u983b\u5ea6\u30fb\u75c7\u72b6\u306f\u5831\u544a\u4f8b\u304c\u5c11\u306a\u304f\u6587\u732e\u306b\u3088\u308a\u5e45\u304c\u3042\u308a\u3001\u8a3a\u65ad\u30fb\u6cbb\u7642\u306e\u6700\u7d42\u5224\u65ad\u306f\u62c5\u5f53\u533b\u306b\u3054\u76f8\u8ac7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<p>\u53c2\u8003\u6587\u732e\uff1a<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1432\/\" target=\"_blank\" rel=\"noopener\">GeneReviews\u300cX-Linked Myotubular Myopathy\u300d<\/a> \/ <a href=\"https:\/\/medlineplus.gov\/genetics\/gene\/mtm1\/\" target=\"_blank\" rel=\"noopener\">MedlinePlus Genetics\u300cMTM1 gene\u300d<\/a> \/ <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/8789451\/\" target=\"_blank\" rel=\"noopener\">Hu et al. Deletions in Xq28 in two boys with myotubular myopathy and abnormal genital development define a new contiguous gene syndrome in a 430 kb region.\uff08PubMed\uff09<\/a> \/ <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/10449925\/\" target=\"_blank\" rel=\"noopener\">Bartsch et al. 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