{"id":123064,"date":"2026-01-16T09:39:27","date_gmt":"2026-01-16T00:39:27","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=123064"},"modified":"2026-03-31T12:50:37","modified_gmt":"2026-03-31T03:50:37","slug":"med13l-syndrome-guide","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/med13l-syndrome-guide\/","title":{"rendered":"MED13L\u75c7\u5019\u7fa4\uff08Impaired intellectual development and distinctive facial features with or without cardiac defects\uff09"},"content":{"rendered":"\n<p>\u533b\u5e2b\u304b\u3089\u300cImpaired intellectual development and distinctive facial features with or without cardiac defects\u300d\u3068\u3044\u3046\u975e\u5e38\u306b\u9577\u3044\u82f1\u8a9e\u306e\u8a3a\u65ad\u540d\u3001\u3042\u308b\u3044\u306f\u300cMED13L\u75c7\u5019\u7fa4\u300d\u3068\u3044\u3046\u540d\u524d\u3092\u544a\u3052\u3089\u308c\u3001\u60c5\u5831\u3092\u6c42\u3081\u3066\u3053\u306e\u30da\u30fc\u30b8\u306b\u305f\u3069\u308a\u7740\u304b\u308c\u305f\u3054\u5bb6\u65cf\u306e\u65b9\u3078\u3002<\/p>\n\n\n\n<p>\u805e\u304d\u6163\u308c\u306a\u3044\u75c5\u540d\u3084\u3001\u30a2\u30eb\u30d5\u30a1\u30d9\u30c3\u30c8\u304c\u4e26\u3076\u8a3a\u65ad\u66f8\u3092\u524d\u306b\u3057\u3066\u3001\u6238\u60d1\u3044\u3084\u5927\u304d\u306a\u4e0d\u5b89\u3092\u611f\u3058\u3066\u3044\u3089\u3063\u3057\u3083\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002\u7279\u306b\u3001\u30a4\u30f3\u30bf\u30fc\u30cd\u30c3\u30c8\u3067\u691c\u7d22\u3057\u3066\u3082\u65e5\u672c\u8a9e\u306e\u8a73\u3057\u3044\u60c5\u5831\u304c\u5c11\u306a\u304f\u3001\u5c02\u9580\u7684\u306a\u533b\u5b66\u8ad6\u6587\u3070\u304b\u308a\u304c\u51fa\u3066\u304d\u3066\u3057\u307e\u3044\u3001\u5177\u4f53\u7684\u306b\u3069\u3093\u306a\u75c5\u6c17\u306a\u306e\u304b\u30a4\u30e1\u30fc\u30b8\u3057\u3065\u3089\u3044\u3068\u3044\u3046\u72b6\u6cc1\u306b\u3042\u308b\u306e\u3067\u306f\u306a\u3044\u3067\u3057\u3087\u3046\u304b\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306f\u3001\u907a\u4f1d\u5b50\u306e\u5909\u5316\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u751f\u307e\u308c\u3064\u304d\u306e\u4f53\u8cea\u3067\u3042\u308a\u3001\u77e5\u7684\u306a\u767a\u9054\u306e\u3086\u3063\u304f\u308a\u3055\u3084\u3001\u611b\u3089\u3057\u3044\u7279\u5fb4\u7684\u306a\u304a\u9854\u7acb\u3061\u3001\u305d\u3057\u3066\u5fc3\u81d3\u306e\u75c5\u6c17\u306a\u3069\u3092\u4f34\u3046\u3053\u3068\u304c\u3042\u308b\u75be\u60a3\u3067\u3059\u3002\u304b\u3064\u3066\u306f\u539f\u56e0\u304c\u7279\u5b9a\u3055\u308c\u3066\u304a\u3089\u305a\u3001\u500b\u5225\u306e\u75c7\u72b6\u3067\u8a3a\u65ad\u3055\u308c\u3066\u3044\u307e\u3057\u305f\u304c\u3001\u8fd1\u5e74\u306e\u907a\u4f1d\u5b50\u89e3\u6790\u6280\u8853\u306e\u9032\u6b69\u306b\u3088\u308a\u3001MED13L\u3068\u3044\u3046\u907a\u4f1d\u5b50\u306e\u5909\u5316\u304c\u5171\u901a\u306e\u539f\u56e0\u3067\u3042\u308b\u3053\u3068\u304c\u308f\u304b\u3063\u3066\u304d\u307e\u3057\u305f\u3002<\/p>\n\n\n<!--nipt_mono-->\r\n<div class=\"nipt-mono\">\r\n    <div class=\"nipt-mono-btn\">\r\n        <a href=\"\/nipt\/nipt-mono\/\">\r\n            <img decoding=\"async\" loading=\"lazy\" src=\"\/nipt\/wp-content\/uploads\/2026\/03\/NIPT-MONO.webp\" alt=\"NIPT-MONO\u3067\u8abf\u3079\u3089\u308c\u307e\u3059\">\r\n         <\/a>\r\n    <\/div>\r\n<\/div>\r\n\r\n<style>\r\n.nipt-mono {\r\n    text-align: center; \/* \u89aa\u8981\u7d20\u3067\u6a2a\u4e2d\u592e *\/\r\n}\r\n.nipt-mono a img {\r\n    display: inline-block; \/* \u753b\u50cf\u3092\u30a4\u30f3\u30e9\u30a4\u30f3\u30d6\u30ed\u30c3\u30af\u5316\u3057\u3066 text-align \u306b\u53cd\u6620 *\/\r\n    width: 333px;\r\n}\r\n<\/style>\r\n<!--\/nipt_mono-->\r\n\r\n\n\n\n\n\n\n\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_84 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">\u76ee\u6b21<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" height=\"10px\" viewBox=\"0 0 24 24\" version=\"1.2\" baseProfile=\"tiny\"><path d=\"M18.2 9.3l-6.2-6.3-6.2 6.3c-.2.2-.3.4-.3.7s.1.5.3.7c.2.2.4.3.7.3h11c.3 0 .5-.1.7-.3.2-.2.3-.5.3-.7s-.1-.5-.3-.7zM5.8 14.7l6.2 6.3 6.2-6.3c.2-.2.3-.5.3-.7s-.1-.5-.3-.7c-.2-.2-.4-.3-.7-.3h-11c-.3 0-.5.1-.7.3-.2.2-.3.5-.3.7s.1.5.3.7z\"\/><\/svg><\/span><\/span><\/span><\/a><\/span><\/div>\n<nav><ul class='ez-toc-list ez-toc-list-level-1 ' ><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-1\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/med13l-syndrome-guide\/#%E6%A6%82%E8%A6%81%EF%BC%9A%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E7%97%85%E6%B0%97%E3%81%8B\" >\u6982\u8981\uff1a\u3069\u306e\u3088\u3046\u306a\u75c5\u6c17\u304b<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/med13l-syndrome-guide\/#%E4%B8%BB%E3%81%AA%E7%97%87%E7%8A%B6\" >\u4e3b\u306a\u75c7\u72b6<\/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\/med13l-syndrome-guide\/#1_%E7%9F%A5%E7%9A%84%E3%81%AA%E7%99%BA%E9%81%94%E3%81%A8%E7%A5%9E%E7%B5%8C%E3%81%AE%E7%89%B9%E5%BE%B4\" >1. \u77e5\u7684\u306a\u767a\u9054\u3068\u795e\u7d4c\u306e\u7279\u5fb4<\/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\/med13l-syndrome-guide\/#2_%E7%89%B9%E5%BE%B4%E7%9A%84%E3%81%AA%E3%81%8A%E9%A1%94%E7%AB%8B%E3%81%A1%EF%BC%88%E9%A1%94%E8%B2%8C%EF%BC%89\" >2. \u7279\u5fb4\u7684\u306a\u304a\u9854\u7acb\u3061\uff08\u9854\u8c8c\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/med13l-syndrome-guide\/#3_%E5%BF%83%E8%87%93%E3%81%AE%E7%97%87%E7%8A%B6\" >3. \u5fc3\u81d3\u306e\u75c7\u72b6<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/med13l-syndrome-guide\/#4_%E8%A1%8C%E5%8B%95%E9%9D%A2%E3%81%AE%E7%89%B9%E5%BE%B4\" >4. \u884c\u52d5\u9762\u306e\u7279\u5fb4<\/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\/med13l-syndrome-guide\/#5_%E3%81%9D%E3%81%AE%E4%BB%96%E3%81%AE%E8%BA%AB%E4%BD%93%E7%97%87%E7%8A%B6\" >5. \u305d\u306e\u4ed6\u306e\u8eab\u4f53\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-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/med13l-syndrome-guide\/#%E5%8E%9F%E5%9B%A0\" >\u539f\u56e0<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/med13l-syndrome-guide\/#MED13L%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AE%E5%BD%B9%E5%89%B2\" >MED13L\u907a\u4f1d\u5b50\u306e\u5f79\u5272<\/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\/med13l-syndrome-guide\/#%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AE%E5%A4%89%E5%8C%96%EF%BC%88%E5%A4%89%E7%95%B0%EF%BC%89\" >\u907a\u4f1d\u5b50\u306e\u5909\u5316\uff08\u5909\u7570\uff09<\/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\/med13l-syndrome-guide\/#%E8%A6%AA%E3%81%8B%E3%82%89%E3%81%AE%E9%81%BA%E4%BC%9D%E3%81%AA%E3%81%AE%E3%81%8B%EF%BC%9F\" >\u89aa\u304b\u3089\u306e\u907a\u4f1d\u306a\u306e\u304b\uff1f<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-12\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/med13l-syndrome-guide\/#%E8%A8%BA%E6%96%AD%E3%81%A8%E6%A4%9C%E6%9F%BB\" >\u8a3a\u65ad\u3068\u691c\u67fb<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-13\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/med13l-syndrome-guide\/#%E8%87%A8%E5%BA%8A%E8%A8%BA%E6%96%AD%E3%81%AE%E9%9B%A3%E3%81%97%E3%81%95\" >\u81e8\u5e8a\u8a3a\u65ad\u306e\u96e3\u3057\u3055<\/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\/med13l-syndrome-guide\/#%E9%81%BA%E4%BC%9D%E5%AD%A6%E7%9A%84%E6%A4%9C%E6%9F%BB\" >\u907a\u4f1d\u5b66\u7684\u691c\u67fb<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-15\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/med13l-syndrome-guide\/#%E6%B2%BB%E7%99%82%E3%81%A8%E7%AE%A1%E7%90%86\" >\u6cbb\u7642\u3068\u7ba1\u7406<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/med13l-syndrome-guide\/#1_%E5%BF%83%E7%96%BE%E6%82%A3%E3%81%AE%E6%B2%BB%E7%99%82\" >1. \u5fc3\u75be\u60a3\u306e\u6cbb\u7642<\/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\/med13l-syndrome-guide\/#2_%E7%99%BA%E9%81%94%E6%94%AF%E6%8F%B4%E3%81%A8%E7%99%82%E8%82%B2%EF%BC%88%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%EF%BC%89\" >2. \u767a\u9054\u652f\u63f4\u3068\u7642\u80b2\uff08\u30ea\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-18\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/med13l-syndrome-guide\/#3_%E5%90%88%E4%BD%B5%E7%97%87%E3%81%AE%E3%82%B9%E3%82%AF%E3%83%AA%E3%83%BC%E3%83%8B%E3%83%B3%E3%82%B0%E3%81%A8%E7%AE%A1%E7%90%86\" >3. \u5408\u4f75\u75c7\u306e\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3068\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\/med13l-syndrome-guide\/#4_%E6%95%99%E8%82%B2%E3%81%A8%E7%94%9F%E6%B4%BB%E7%92%B0%E5%A2%83%E3%81%AE%E8%AA%BF%E6%95%B4\" >4. \u6559\u80b2\u3068\u751f\u6d3b\u74b0\u5883\u306e\u8abf\u6574<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-20\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/med13l-syndrome-guide\/#%E3%81%BE%E3%81%A8%E3%82%81\" >\u307e\u3068\u3081<\/a><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%A6%82%E8%A6%81%EF%BC%9A%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E7%97%85%E6%B0%97%E3%81%8B\"><\/span><strong>\u6982\u8981\uff1a\u3069\u306e\u3088\u3046\u306a\u75c5\u6c17\u304b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u307e\u305a\u3001\u3053\u306e\u9577\u3044\u8a3a\u65ad\u540d\u306b\u3064\u3044\u3066\u6574\u7406\u3057\u307e\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<p>\u82f1\u8a9e\u306e\u300cImpaired intellectual development and distinctive facial features with or without cardiac defects\u300d\u3092\u65e5\u672c\u8a9e\u306b\u8a33\u3059\u3068\u3001\u300c\u5fc3\u75be\u60a3\u3092\u4f34\u3046\u3001\u307e\u305f\u306f\u4f34\u308f\u306a\u3044\u3001\u77e5\u7684\u767a\u9054\u969c\u5bb3\u304a\u3088\u3073\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u300d\u3068\u3044\u3046\u610f\u5473\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u533b\u5b66\u7684\u306a\u5206\u985e\u3067\u306f\u3001\u982d\u6587\u5b57\u3092\u3068\u3063\u3066MRFACD\u3068\u547c\u3070\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u4e00\u822c\u7684\u306b\u306f\u539f\u56e0\u3068\u306a\u308b\u907a\u4f1d\u5b50\u306e\u540d\u524d\u3092\u3068\u3063\u3066MED13L\u75c7\u5019\u7fa4\u3001\u3042\u308b\u3044\u306fMED13L\u30cf\u30d7\u30ed\u4e0d\u5168\u75c7\u5019\u7fa4\u3068\u547c\u3070\u308c\u308b\u3053\u3068\u304c\u5897\u3048\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u8a18\u4e8b\u3067\u3082\u3001\u3088\u308a\u547c\u3073\u3084\u3059\u3044\u300cMED13L\u75c7\u5019\u7fa4\u300d\u3068\u3044\u3046\u540d\u79f0\u3092\u4f7f\u3063\u3066\u89e3\u8aac\u3092\u9032\u3081\u307e\u3059\u3002<\/p>\n\n\n\n<p>MED13L\u75c7\u5019\u7fa4\u306f\u3001\u7b2c12\u756a\u67d3\u8272\u4f53\u306b\u3042\u308bMED13L\u907a\u4f1d\u5b50\u306e\u50cd\u304d\u304c\u751f\u307e\u308c\u3064\u304d\u5f31\u307e\u3063\u3066\u3044\u308b\u3053\u3068\u306b\u3088\u3063\u3066\u8d77\u3053\u308a\u307e\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306f\u3001\u8d64\u3061\u3083\u3093\u304c\u304a\u6bcd\u3055\u3093\u306e\u304a\u8179\u306e\u4e2d\u3067\u6210\u9577\u3059\u308b\u521d\u671f\u6bb5\u968e\u306b\u304a\u3044\u3066\u3001\u8133\u3084\u5fc3\u81d3\u3001\u9854\u306e\u5f62\u306a\u3069\u304c\u6b63\u3057\u304f\u4f5c\u3089\u308c\u308b\u3088\u3046\u306b\u6307\u4ee4\u3092\u51fa\u3059\u3001\u975e\u5e38\u306b\u91cd\u8981\u306a\u5f79\u5272\u3092\u62c5\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u6307\u4ee4\u304c\u3046\u307e\u304f\u4f1d\u308f\u3089\u306a\u3044\u3053\u3068\u3067\u3001\u8a00\u8449\u3084\u904b\u52d5\u306e\u767a\u9054\u306b\u9045\u308c\u304c\u51fa\u305f\u308a\u3001\u5fc3\u81d3\u306e\u5f62\u306b\u5909\u5316\u304c\u751f\u3058\u305f\u308a\u3057\u307e\u3059\u3002\u4e16\u754c\u7684\u306b\u898b\u3066\u3082\u60a3\u8005\u6570\u306f\u5c11\u306a\u304f\u3001\u5e0c\u5c11\u75be\u60a3\uff08\u30ec\u30a2\u30c7\u30a3\u30b8\u30fc\u30ba\uff09\u306e\u4e00\u3064\u306b\u6570\u3048\u3089\u308c\u307e\u3059\u3002\u6b63\u78ba\u306a\u983b\u5ea6\u306f\u307e\u3060\u8abf\u67fb\u6bb5\u968e\u3067\u3059\u304c\u3001\u6570\u4e07\u4eba\u306b\u4e00\u4eba\u304b\u3089\u5341\u4e07\u4eba\u306b\u4e00\u4eba\u7a0b\u5ea6\u306e\u5272\u5408\u3067\u751f\u307e\u308c\u308b\u306e\u3067\u306f\u306a\u3044\u304b\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8fd1\u5e74\u3001\u907a\u4f1d\u5b50\u691c\u67fb\uff08\u7279\u306b\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u306a\u3069\uff09\u304c\u666e\u53ca\u3057\u305f\u3053\u3068\u3067\u3001\u3053\u308c\u307e\u3067\u539f\u56e0\u4e0d\u660e\u306e\u767a\u9054\u9045\u6ede\u3068\u3055\u308c\u3066\u3044\u305f\u304a\u5b50\u3055\u3093\u306e\u4e2d\u306b\u3001\u3053\u306e\u75c7\u5019\u7fa4\u306e\u65b9\u304c\u591a\u304f\u542b\u307e\u308c\u3066\u3044\u308b\u3053\u3068\u304c\u308f\u304b\u3063\u3066\u304d\u307e\u3057\u305f\u3002\u8a3a\u65ad\u3055\u308c\u308b\u60a3\u8005\u3055\u3093\u306e\u6570\u306f\u5f90\u3005\u306b\u5897\u3048\u3066\u304a\u308a\u3001\u540c\u3058\u60a9\u307f\u3092\u6301\u3064\u5bb6\u65cf\u540c\u58eb\u304c\u3064\u306a\u304c\u308c\u308b\u6a5f\u4f1a\u3082\u5c11\u3057\u305a\u3064\u5897\u3048\u3066\u304d\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%B8%BB%E3%81%AA%E7%97%87%E7%8A%B6\"><\/span><strong>\u4e3b\u306a\u75c7\u72b6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>MED13L\u75c7\u5019\u7fa4\u306e\u75c7\u72b6\u306f\u3001\u304a\u5b50\u3055\u3093\u306b\u3088\u3063\u3066\u4e00\u4eba\u3072\u3068\u308a\u5168\u304f\u7570\u306a\u308a\u307e\u3059\u3002\u300c\u5fc3\u75be\u60a3\u3092\u4f34\u3046\u3001\u307e\u305f\u306f\u4f34\u308f\u306a\u3044\u300d\u3068\u3044\u3046\u75c5\u540d\u304c\u793a\u3057\u3066\u3044\u308b\u901a\u308a\u3001\u91cd\u3044\u5fc3\u81d3\u75c5\u3092\u6301\u3064\u5b50\u3082\u3044\u308c\u3070\u3001\u5fc3\u81d3\u306b\u306f\u5168\u304f\u554f\u984c\u304c\u306a\u3044\u5b50\u3082\u3044\u307e\u3059\u3002\u3053\u3053\u3067\u306f\u3001\u591a\u304f\u306e\u60a3\u8005\u3055\u3093\u306b\u898b\u3089\u308c\u308b\u4ee3\u8868\u7684\u306a\u7279\u5fb4\u306b\u3064\u3044\u3066\u8a73\u3057\u304f\u89e3\u8aac\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E7%9F%A5%E7%9A%84%E3%81%AA%E7%99%BA%E9%81%94%E3%81%A8%E7%A5%9E%E7%B5%8C%E3%81%AE%E7%89%B9%E5%BE%B4\"><\/span><strong>1. \u77e5\u7684\u306a\u767a\u9054\u3068\u795e\u7d4c\u306e\u7279\u5fb4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u307b\u307c\u3059\u3079\u3066\u306e\u60a3\u8005\u3055\u3093\u306b\u898b\u3089\u308c\u308b\u306e\u304c\u3001\u767a\u9054\u306e\u30da\u30fc\u30b9\u304c\u3086\u3063\u304f\u308a\u3067\u3042\u308b\u3053\u3068\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u904b\u52d5\u767a\u9054\u306e\u9045\u308c<\/p>\n\n\n\n<p>\u8d64\u3061\u3083\u3093\u306e\u9803\u306f\u3001\u4f53\u306e\u7b4b\u8089\u306e\u5f35\u308a\u304c\u5f31\u3044\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u591a\u304f\u3042\u308a\u307e\u3059\u3002\u62b1\u3063\u3053\u3092\u3057\u305f\u6642\u306b\u4f53\u304c\u3075\u306b\u3083\u3075\u306b\u3083\u3068\u67d4\u3089\u304b\u304f\u611f\u3058\u305f\u308a\u3001\u624b\u8db3\u306e\u52d5\u304d\u304c\u5c11\u3057\u5f31\u304b\u3063\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u305d\u306e\u305f\u3081\u3001\u9996\u304c\u3059\u308f\u308b\u3001\u304a\u5ea7\u308a\u3092\u3059\u308b\u3001\u30cf\u30a4\u30cf\u30a4\u3092\u3059\u308b\u3001\u4e00\u4eba\u3067\u6b69\u304f\u3068\u3044\u3063\u305f\u904b\u52d5\u306e\u30de\u30a4\u30eb\u30b9\u30c8\u30fc\u30f3\u306b\u5230\u9054\u3059\u308b\u6642\u671f\u304c\u3001\u5e73\u5747\u7684\u306a\u6708\u9f62\u3088\u308a\u3082\u9045\u304f\u306a\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002\u591a\u304f\u306e\u60a3\u8005\u3055\u3093\u306f\u3001\u6210\u9577\u3068\u3068\u3082\u306b\u4e00\u4eba\u3067\u6b69\u3051\u308b\u3088\u3046\u306b\u306a\u308a\u307e\u3059\u304c\u3001\u6570\u6b73\u306b\u306a\u3063\u3066\u304b\u3089\u6b69\u304d\u59cb\u3081\u308b\u304a\u5b50\u3055\u3093\u3082\u5c11\u306a\u304f\u3042\u308a\u307e\u305b\u3093\u3002\u6b69\u304d\u59cb\u3081\u3066\u304b\u3089\u3082\u3001\u4f53\u5e79\u304c\u5f31\u3044\u305f\u3081\u306b\u8ee2\u3073\u3084\u3059\u304b\u3063\u305f\u308a\u3001\u72ec\u7279\u306e\u6b69\u304d\u65b9\u3092\u3057\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8a00\u8449\u3068\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3<\/p>\n\n\n\n<p>\u8a00\u8449\u306e\u767a\u9054\u306b\u95a2\u3057\u3066\u3082\u3001\u3086\u3063\u304f\u308a\u3067\u3042\u308b\u3053\u3068\u304c\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u3061\u3089\u306e\u8a00\u3063\u3066\u3044\u308b\u3053\u3068\u306f\u7406\u89e3\u3057\u3066\u3044\u3066\u3082\u3001\u305d\u308c\u3092\u8a00\u8449\u306b\u3057\u3066\u8a71\u3059\u3053\u3068\uff08\u8868\u51fa\u8a00\u8a9e\uff09\u304c\u7279\u306b\u82e6\u624b\u306a\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002\u610f\u5473\u306e\u3042\u308b\u5358\u8a9e\u304c\u51fa\u308b\u306e\u304c\u9045\u304b\u3063\u305f\u308a\u3001\u304a\u8a71\u3057\u3067\u304d\u308b\u8a9e\u5f59\u306e\u6570\u304c\u5c11\u306a\u304b\u3063\u305f\u308a\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u8a00\u8449\u304c\u51fa\u306b\u304f\u3044\u304b\u3089\u3068\u3044\u3063\u3066\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u304c\u53d6\u308c\u306a\u3044\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u8eab\u632f\u308a\u624b\u632f\u308a\u3084\u8868\u60c5\u3001\u3042\u308b\u3044\u306f\u7d75\u30ab\u30fc\u30c9\u306a\u3069\u3092\u4f7f\u3063\u3066\u3001\u81ea\u5206\u306e\u6c17\u6301\u3061\u3092\u4f1d\u3048\u3088\u3046\u3068\u3059\u308b\u610f\u6b32\u3092\u6301\u3063\u3066\u3044\u308b\u304a\u5b50\u3055\u3093\u306f\u305f\u304f\u3055\u3093\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u77e5\u7684\u306a\u767a\u9054\u969c\u5bb3<\/p>\n\n\n\n<p>\u8efd\u5ea6\u304b\u3089\u91cd\u5ea6\u307e\u3067\u5e45\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u591a\u304f\u306e\u5834\u5408\u3001\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\u5b66\u7fd2\u3084\u8907\u96d1\u306a\u8ab2\u984c\u306e\u7406\u89e3\u306b\u306f\u30b5\u30dd\u30fc\u30c8\u304c\u5fc5\u8981\u3067\u3059\u304c\u3001\u4e00\u4eba\u3072\u3068\u308a\u306e\u30da\u30fc\u30b9\u3067\u5b66\u3073\u3001\u6210\u9577\u3057\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E7%89%B9%E5%BE%B4%E7%9A%84%E3%81%AA%E3%81%8A%E9%A1%94%E7%AB%8B%E3%81%A1%EF%BC%88%E9%A1%94%E8%B2%8C%EF%BC%89\"><\/span><strong>2. \u7279\u5fb4\u7684\u306a\u304a\u9854\u7acb\u3061\uff08\u9854\u8c8c\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>MED13L\u75c7\u5019\u7fa4\u306e\u304a\u5b50\u3055\u3093\u306b\u306f\u3001\u3044\u304f\u3064\u304b\u306e\u5171\u901a\u3057\u305f\u304a\u9854\u306e\u7279\u5fb4\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u3089\u306f\u300c\u7279\u7570\u7684\u9854\u8c8c\u300d\u3068\u547c\u3070\u308c\u307e\u3059\u304c\u3001\u75c5\u6c17\u7279\u6709\u306e\u3082\u306e\u3068\u3044\u3046\u3088\u308a\u306f\u3001\u305d\u306e\u5b50\u81ea\u8eab\u306e\u500b\u6027\u3068\u3057\u3066\u611b\u3089\u3057\u304f\u611f\u3058\u3089\u308c\u308b\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u9f3b\u306e\u7279\u5fb4<\/p>\n\n\n\n<p>\u9f3b\u306e\u4ed8\u3051\u6839\uff08\u9f3b\u6839\u90e8\uff09\u304c\u5c11\u3057\u4f4e\u304f\u5e73\u3089\u3067\u3001\u9f3b\u5148\u304c\u4e38\u304f\u3075\u3063\u304f\u3089\u3068\u3057\u3066\u3044\u308b\uff08\u7403\u72b6\u306e\u9f3b\u5c16\uff09\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002\u307e\u305f\u3001\u5c0f\u9f3b\u304c\u5c11\u3057\u6a2a\u306b\u5e83\u304c\u3063\u3066\u3044\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u53e3\u5143\u306e\u7279\u5fb4<\/p>\n\n\n\n<p>\u53e3\u3092\u30dd\u30ab\u30f3\u3068\u958b\u3051\u3066\u3044\u308b\u3053\u3068\u304c\u591a\u304f\u898b\u3089\u308c\u307e\u3059\u3002\u3053\u308c\u306f\u3001\u53e3\u306e\u5468\u308a\u306e\u7b4b\u8089\u304c\u5f31\u3044\u3053\u3068\u3084\u3001\u820c\u304c\u76f8\u5bfe\u7684\u306b\u5927\u304d\u304f\u898b\u3048\u308b\u3053\u3068\uff08\u5de8\u820c\u50be\u5411\uff09\u306a\u3069\u304c\u95a2\u4fc2\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u4e0a\u5507\u306e\u5f62\u306b\u7279\u5fb4\u304c\u3042\u308a\u3001\u4eba\u4e2d\uff08\u9f3b\u306e\u4e0b\u306e\u6e9d\uff09\u304c\u306f\u3063\u304d\u308a\u3057\u3066\u3044\u305f\u308a\u3001\u4e0a\u5507\u306e\u5c71\u306a\u308a\u306b\u306a\u3063\u3066\u3044\u308b\u90e8\u5206\uff08\u30ad\u30e5\u30fc\u30d4\u30c3\u30c9\u306e\u5f13\uff09\u304c\u304f\u3063\u304d\u308a\u3057\u3066\u3044\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u76ee\u306e\u7279\u5fb4<\/p>\n\n\n\n<p>\u7709\u6bdb\u304c\u771f\u3063\u76f4\u3050\u3067\u3057\u3063\u304b\u308a\u3057\u3066\u3044\u305f\u308a\u3001\u76ee\u3068\u76ee\u306e\u9593\u304c\u5c11\u3057\u96e2\u308c\u3066\u3044\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u308c\u3089\u306e\u9854\u3064\u304d\u306e\u7279\u5fb4\u306f\u3001\u5e7c\u5c11\u671f\u306b\u306f\u6bd4\u8f03\u7684\u306f\u3063\u304d\u308a\u3057\u3066\u3044\u307e\u3059\u304c\u3001\u6210\u9577\u3057\u3066\u9aa8\u683c\u304c\u3057\u3063\u304b\u308a\u3057\u3066\u304f\u308b\u306b\u3064\u308c\u3066\u3001\u5f90\u3005\u306b\u76ee\u7acb\u305f\u306a\u304f\u306a\u3063\u3066\u3044\u304f\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E5%BF%83%E8%87%93%E3%81%AE%E7%97%87%E7%8A%B6\"><\/span><strong>3. \u5fc3\u81d3\u306e\u75c7\u72b6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8a3a\u65ad\u540d\u306e\u91cd\u8981\u306a\u8981\u7d20\u3068\u306a\u3063\u3066\u3044\u308b\u306e\u304c\u3001\u5148\u5929\u6027\u5fc3\u75be\u60a3\uff08\u751f\u307e\u308c\u3064\u304d\u306e\u5fc3\u81d3\u306e\u75c5\u6c17\uff09\u3067\u3059\u3002\u5831\u544a\u306b\u3088\u308b\u3068\u3001\u304a\u3088\u305d\u534a\u6570\u304b\u30897\u5272\u7a0b\u5ea6\u306e\u60a3\u8005\u3055\u3093\u306b\u4f55\u3089\u304b\u306e\u5fc3\u81d3\u306e\u7570\u5e38\u304c\u898b\u3064\u304b\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d\u75c7\u3084\u5fc3\u623f\u4e2d\u9694\u6b20\u640d\u75c7\u306a\u3069\u306e\u3088\u3046\u306b\u3001\u5fc3\u81d3\u306e\u90e8\u5c4b\u3092\u9694\u3066\u308b\u58c1\u306b\u7a74\u304c\u958b\u3044\u3066\u3044\u308b\u30bf\u30a4\u30d7\u304c\u591a\u304f\u898b\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u52d5\u8108\u7ba1\u958b\u5b58\u75c7\u3084\u80ba\u52d5\u8108\u72ed\u7a84\u75c7\u3001\u3055\u3089\u306b\u306f\u30d5\u30a1\u30ed\u30fc\u56db\u5fb4\u75c7\u3084\u5927\u8840\u7ba1\u8ee2\u4f4d\u75c7\u3068\u3044\u3063\u305f\u3001\u3088\u308a\u8907\u96d1\u306a\u5fc3\u81d3\u306e\u69cb\u9020\u7570\u5e38\uff08\u30c1\u30a2\u30ce\u30fc\u30bc\u6027\u5fc3\u75be\u60a3\uff09\u3092\u5408\u4f75\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u3089\u306f\u751f\u5f8c\u3059\u3050\u306b\u624b\u8853\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u65e5\u672c\u306e\u5c0f\u5150\u5fc3\u81d3\u5916\u79d1\u306e\u6280\u8853\u306f\u975e\u5e38\u306b\u9ad8\u304f\u3001\u9069\u5207\u306a\u6cbb\u7642\u3092\u53d7\u3051\u308b\u3053\u3068\u3067\u5143\u6c17\u306b\u751f\u6d3b\u3067\u304d\u308b\u3088\u3046\u306b\u306a\u308b\u30b1\u30fc\u30b9\u304c\u307b\u3068\u3093\u3069\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u4e00\u65b9\u3067\u3001\u5fc3\u81d3\u306b\u306f\u5168\u304f\u7570\u5e38\u304c\u306a\u3044\u3001\u3042\u308b\u3044\u306f\u3054\u304f\u8efd\u5fae\u3067\u6cbb\u7642\u306e\u5fc5\u8981\u304c\u306a\u3044\u3068\u3044\u3046\u60a3\u8005\u3055\u3093\u3082\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E8%A1%8C%E5%8B%95%E9%9D%A2%E3%81%AE%E7%89%B9%E5%BE%B4\"><\/span><strong>4. \u884c\u52d5\u9762\u306e\u7279\u5fb4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u884c\u52d5\u3084\u6027\u683c\u306b\u3082\u3044\u304f\u3064\u304b\u306e\u50be\u5411\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u660e\u308b\u304f\u4eba\u61d0\u3063\u3053\u3044\u6027\u683c\u306e\u304a\u5b50\u3055\u3093\u304c\u3044\u308b\u4e00\u65b9\u3067\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7<\/a>\u306b\u4f3c\u305f\u884c\u52d5\u7279\u6027\u3092\u6301\u3064\u304a\u5b50\u3055\u3093\u3082\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4f8b\u3048\u3070\u3001\u7279\u5b9a\u306e\u3082\u306e\u306b\u5f37\u3044\u3053\u3060\u308f\u308a\u3092\u793a\u3057\u305f\u308a\u3001\u624b\u3092\u3072\u3089\u3072\u3089\u3055\u305b\u308b\u3088\u3046\u306a\u53cd\u5fa9\u52d5\u4f5c\uff08\u5e38\u540c\u884c\u52d5\uff09\u304c\u898b\u3089\u308c\u305f\u308a\u3001\u8996\u7dda\u3092\u5408\u308f\u305b\u308b\u306e\u304c\u82e6\u624b\u3060\u3063\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u8074\u899a\u904e\u654f\u3084\u89e6\u899a\u904e\u654f\u306a\u3069\u306e\u611f\u899a\u904e\u654f\u3092\u6301\u3063\u3066\u3044\u308b\u3053\u3068\u3082\u3042\u308a\u3001\u5927\u304d\u306a\u97f3\u304c\u82e6\u624b\u3060\u3063\u305f\u308a\u3001\u7279\u5b9a\u306e\u670d\u306e\u808c\u89e6\u308a\u3092\u5acc\u304c\u3063\u305f\u308a\u3059\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=\"5_%E3%81%9D%E3%81%AE%E4%BB%96%E3%81%AE%E8%BA%AB%E4%BD%93%E7%97%87%E7%8A%B6\"><\/span><strong>5. \u305d\u306e\u4ed6\u306e\u8eab\u4f53\u75c7\u72b6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3066\u3093\u304b\u3093\u767a\u4f5c<\/p>\n\n\n\n<p>\u4e00\u90e8\u306e\u60a3\u8005\u3055\u3093\u3067\u306f\u3001\u3051\u3044\u308c\u3093\u767a\u4f5c\u3092\u8d77\u3053\u3059\u3066\u3093\u304b\u3093\u3092\u5408\u4f75\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u591a\u304f\u306e\u5834\u5408\u3001\u304a\u85ac\u3067\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u773c\u79d1\u7684\u306a\u554f\u984c<\/p>\n\n\n\n<p>\u659c\u8996\uff08\u8996\u7dda\u304c\u305a\u308c\u308b\uff09\u3084\u3001\u9060\u8996\u3001\u8fd1\u8996\u306a\u3069\u306e\u5c48\u6298\u7570\u5e38\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8074\u529b<\/p>\n\n\n\n<p>\u96e3\u8074\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u3082\u3042\u308b\u305f\u3081\u3001\u8074\u529b\u306e\u30c1\u30a7\u30c3\u30af\u306f\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u624b\u6307\u306e\u7279\u5fb4<\/p>\n\n\n\n<p>\u6307\u304c\u5c11\u3057\u77ed\u304b\u3063\u305f\u308a\u3001\u5148\u7d30\u308a\u3057\u3066\u3044\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%8E%9F%E5%9B%A0\"><\/span><strong>\u539f\u56e0<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u306a\u305c\u3001\u3053\u306e\u3088\u3046\u306b\u5168\u8eab\u306e\u3055\u307e\u3056\u307e\u306a\u5834\u6240\u306b\u75c7\u72b6\u304c\u73fe\u308c\u308b\u306e\u3067\u3057\u3087\u3046\u304b\u3002\u305d\u306e\u539f\u56e0\u306f\u3001\u907a\u4f1d\u5b50\u306e\u50cd\u304d\u3092\u8a73\u3057\u304f\u898b\u308b\u3053\u3068\u3067\u7406\u89e3\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"MED13L%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AE%E5%BD%B9%E5%89%B2\"><\/span><strong>MED13L\u907a\u4f1d\u5b50\u306e\u5f79\u5272<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u79c1\u305f\u3061\u306e\u4f53\u306f\u3001\u7d0437\u5146\u500b\u3082\u306e\u7d30\u80de\u3067\u3067\u304d\u3066\u304a\u308a\u3001\u305d\u306e\u4e00\u3064\u3072\u3068\u3064\u306e\u7d30\u80de\u306e\u4e2d\u306b\u3001\u751f\u547d\u306e\u8a2d\u8a08\u56f3\u3067\u3042\u308bDNA\u304c\u5165\u3063\u3066\u3044\u307e\u3059\u3002DNA\u306e\u4e2d\u306b\u306f\u305f\u304f\u3055\u3093\u306e\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u305d\u306e\u3046\u3061\u306e\u4e00\u3064\u304c\u300cMED13L\u300d\u3068\u3044\u3046\u907a\u4f1d\u5b50\u3067\u3059\u3002<\/p>\n\n\n\n<p>MED13L\u907a\u4f1d\u5b50\u306f\u3001\u7b2c12\u756a\u67d3\u8272\u4f53\u306e\u4e0a\u306b\u5b58\u5728\u3057\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306f\u3001\u300c\u30e1\u30c7\u30a3\u30a8\u30fc\u30bf\u30fc\u8907\u5408\u4f53\u300d\u3068\u3044\u3046\u5927\u304d\u306a\u30bf\u30f3\u30d1\u30af\u8cea\u30b0\u30eb\u30fc\u30d7\u306e\u4e00\u90e8\u3092\u4f5c\u308b\u5f79\u5272\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u30e1\u30c7\u30a3\u30a8\u30fc\u30bf\u30fc\u8907\u5408\u4f53\u306f\u3001\u4ed6\u306e\u305f\u304f\u3055\u3093\u306e\u907a\u4f1d\u5b50\u306b\u5bfe\u3057\u3066\u3001\u300c\u4eca\u52d5\u3044\u3066\u304f\u3060\u3055\u3044\u300d\u300c\u4eca\u306f\u4f11\u3093\u3067\u3044\u3066\u304f\u3060\u3055\u3044\u300d\u3068\u3044\u3046\u30b9\u30a4\u30c3\u30c1\u306e\u5207\u308a\u66ff\u3048\uff08\u8ee2\u5199\u306e\u5236\u5fa1\uff09\u3092\u884c\u3046\u3001\u3044\u308f\u3070\u6307\u63ee\u8005\u306e\u3088\u3046\u306a\u5f79\u5272\u3092\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7279\u306bMED13L\u306f\u3001\u8d64\u3061\u3083\u3093\u304c\u304a\u8179\u306e\u4e2d\u3067\u5f62\u4f5c\u3089\u308c\u308b\u6642\u671f\u306b\u3001\u5fc3\u81d3\u3084\u8133\u3001\u795e\u7d4c\u306a\u3069\u304c\u6b63\u3057\u304f\u767a\u9054\u3059\u308b\u3088\u3046\u306b\u3001\u591a\u304f\u306e\u907a\u4f1d\u5b50\u305f\u3061\u306b\u6307\u4ee4\u3092\u51fa\u3059\u305f\u3081\u306b\u4e0d\u53ef\u6b20\u306a\u5b58\u5728\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AE%E5%A4%89%E5%8C%96%EF%BC%88%E5%A4%89%E7%95%B0%EF%BC%89\"><\/span><strong>\u907a\u4f1d\u5b50\u306e\u5909\u5316\uff08\u5909\u7570\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>MED13L\u75c7\u5019\u7fa4\u306e\u60a3\u8005\u3055\u3093\u3067\u306f\u3001\u3053\u306eMED13L\u907a\u4f1d\u5b50\u306e\u4e00\u90e8\u304c\u6b20\u3051\u3066\u3044\u305f\u308a\u3001\u914d\u5217\u306e\u6587\u5b57\u304c\u66f8\u304d\u63db\u308f\u3063\u3066\u3044\u305f\u308a\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4eba\u9593\u306f\u901a\u5e38\u3001\u4e21\u89aa\u304b\u3089\u4e00\u3064\u305a\u3064\u3001\u5408\u8a082\u3064\u306eMED13L\u907a\u4f1d\u5b50\u3092\u53d7\u3051\u7d99\u304e\u307e\u3059\u3002\u3053\u306e\u75c5\u6c17\u306f\u30012\u3064\u306e\u3046\u3061\u7247\u65b9\u306e\u907a\u4f1d\u5b50\u304c\u3046\u307e\u304f\u50cd\u304b\u306a\u304f\u306a\u308b\u3053\u3068\u3067\u767a\u75c7\u3057\u307e\u3059\u3002\u3053\u308c\u3092\u30cf\u30d7\u30ed\u4e0d\u5168\u3068\u547c\u3073\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7247\u65b9\u306e\u907a\u4f1d\u5b50\u306f\u6b63\u5e38\u306b\u50cd\u3044\u3066\u3044\u308b\u306e\u3067\u3059\u304c\u3001\u305d\u308c\u3060\u3051\u3067\u306f\u5fc5\u8981\u306a\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u91cf\u304c\u8db3\u308a\u305a\u3001\u6307\u63ee\u8005\u306e\u529b\u304c\u5f31\u304f\u306a\u3063\u3066\u3057\u307e\u3046\u305f\u3081\u3001\u5168\u8eab\u306e\u767a\u9054\u306b\u5f71\u97ff\u304c\u51fa\u308b\u306e\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%A6%AA%E3%81%8B%E3%82%89%E3%81%AE%E9%81%BA%E4%BC%9D%E3%81%AA%E3%81%AE%E3%81%8B%EF%BC%9F\"><\/span><strong>\u89aa\u304b\u3089\u306e\u907a\u4f1d\u306a\u306e\u304b\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u591a\u304f\u306e\u3054\u5bb6\u65cf\u304c\u6700\u3082\u6c17\u306b\u3055\u308c\u308b\u306e\u304c\u3001\u300c\u89aa\u304b\u3089\u907a\u4f1d\u3057\u305f\u306e\u304b\uff1f\u300d\u300c\u81ea\u5206\u306e\u305b\u3044\u3067\u3053\u3046\u306a\u3063\u305f\u306e\u304b\uff1f\u300d\u3068\u3044\u3046\u70b9\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u7d50\u8ad6\u304b\u3089\u7533\u3057\u4e0a\u3052\u307e\u3059\u3068\u3001MED13L\u75c7\u5019\u7fa4\u306e\u307b\u3068\u3093\u3069\u306e\u30b1\u30fc\u30b9\u306f\u3001\u65b0\u751f\u7a81\u7136\u5909\u7570\uff08de novo\u5909\u7570\uff09\u306b\u3088\u308b\u3082\u306e\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u308c\u306f\u3001\u3054\u4e21\u89aa\u306e\u907a\u4f1d\u5b50\u306b\u306f\u5168\u304f\u7570\u5e38\u304c\u306a\u304f\u3001\u7cbe\u5b50\u3084\u5375\u5b50\u304c\u4f5c\u3089\u308c\u308b\u904e\u7a0b\u3001\u3042\u308b\u3044\u306f\u53d7\u7cbe\u3057\u305f\u76f4\u5f8c\u306e\u7d30\u80de\u5206\u88c2\u306e\u6bb5\u968e\u3067\u3001\u5076\u7136\u306b\u907a\u4f1d\u5b50\u306e\u5909\u5316\u304c\u8d77\u304d\u305f\u3053\u3068\u3092\u610f\u5473\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3064\u307e\u308a\u3001\u3054\u4e21\u89aa\u306e\u3069\u3061\u3089\u304b\u306e\u305b\u3044\u3067\u907a\u4f1d\u3057\u305f\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u307e\u305f\u3001\u598a\u5a20\u4e2d\u306e\u98df\u3079\u7269\u3084\u751f\u6d3b\u7fd2\u6163\u3001\u30b9\u30c8\u30ec\u30b9\u3001\u304a\u85ac\u306a\u3069\u304c\u539f\u56e0\u3067\u8d77\u304d\u308b\u3082\u306e\u3067\u3082\u6c7a\u3057\u3066\u3042\u308a\u307e\u305b\u3093\u3002\u8ab0\u306b\u3067\u3082\u8d77\u3053\u308a\u3046\u308b\u3001\u751f\u547d\u306e\u795e\u79d8\u306b\u304a\u3051\u308b\u5076\u7136\u306e\u73fe\u8c61\u306a\u306e\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3054\u304f\u7a00\u306b\u3001\u3054\u4e21\u89aa\u306e\u3069\u3061\u3089\u304b\u304c\u75c7\u72b6\u306e\u306a\u3044\u307e\u307e\u907a\u4f1d\u5b50\u306e\u5909\u5316\uff08<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mosaicism\/\">\u30e2\u30b6\u30a4\u30af<\/a>\u306a\u3069\uff09\u3092\u6301\u3063\u3066\u3044\u3066\u3001\u305d\u308c\u304c\u304a\u5b50\u3055\u3093\u306b\u4f1d\u308f\u308b\u30b1\u30fc\u30b9\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u3053\u308c\u306f\u975e\u5e38\u306b\u73cd\u3057\u3044\u4f8b\u3067\u3059\u3002\u6b21\u306e\u304a\u5b50\u3055\u3093\u3078\u306e\u5f71\u97ff\u306a\u3069\u304c\u5fc3\u914d\u306a\u5834\u5408\u306f\u3001\u81e8\u5e8a\u907a\u4f1d\u5c02\u9580\u533b\u3084\u8a8d\u5b9a\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u306b\u3088\u308b\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3092\u53d7\u3051\u308b\u3053\u3068\u3067\u3001\u3088\u308a\u500b\u5225\u306e\u8a73\u3057\u3044\u60c5\u5831\u3092\u5f97\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2026\/01\/33880960_s.webp\" alt=\"\u533b\u7642\" class=\"wp-image-122299\"\/><\/figure><\/div>\n\n<!--nipt_mono-->\r\n<div class=\"nipt-mono\">\r\n    <div class=\"nipt-mono-btn\">\r\n        <a href=\"\/nipt\/nipt-mono\/\">\r\n            <img decoding=\"async\" loading=\"lazy\" src=\"\/nipt\/wp-content\/uploads\/2026\/03\/NIPT-MONO.webp\" alt=\"NIPT-MONO\u3067\u8abf\u3079\u3089\u308c\u307e\u3059\">\r\n         <\/a>\r\n    <\/div>\r\n<\/div>\r\n\r\n<style>\r\n.nipt-mono {\r\n    text-align: center; \/* \u89aa\u8981\u7d20\u3067\u6a2a\u4e2d\u592e *\/\r\n}\r\n.nipt-mono a img {\r\n    display: inline-block; \/* \u753b\u50cf\u3092\u30a4\u30f3\u30e9\u30a4\u30f3\u30d6\u30ed\u30c3\u30af\u5316\u3057\u3066 text-align \u306b\u53cd\u6620 *\/\r\n    width: 333px;\r\n}\r\n<\/style>\r\n<!--\/nipt_mono-->\r\n\r\n\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%A8%BA%E6%96%AD%E3%81%A8%E6%A4%9C%E6%9F%BB\"><\/span><strong>\u8a3a\u65ad\u3068\u691c\u67fb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306f\u75c7\u72b6\u304c\u591a\u5c90\u306b\u308f\u305f\u308b\u305f\u3081\u3001\u5916\u898b\u3084\u75c7\u72b6\u3060\u3051\u3067\u8a3a\u65ad\u3092\u78ba\u5b9a\u3059\u308b\u3053\u3068\u306f\u975e\u5e38\u306b\u56f0\u96e3\u3067\u3059\u3002\u6700\u7d42\u7684\u306b\u306f\u907a\u4f1d\u5b50\u691c\u67fb\u304c\u5fc5\u8981\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%87%A8%E5%BA%8A%E8%A8%BA%E6%96%AD%E3%81%AE%E9%9B%A3%E3%81%97%E3%81%95\"><\/span><strong>\u81e8\u5e8a\u8a3a\u65ad\u306e\u96e3\u3057\u3055<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u30ab\u30d6\u30ad\u75c7\u5019\u7fa4\u3084\u30c1\u30e3\u30fc\u30b8\u75c7\u5019\u7fa4\u3001\u3042\u308b\u3044\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/1p-36-deletion-syndrome\/\">1p36\u6b20\u5931\u75c7\u5019\u7fa4<\/a>\u306a\u3069\u3001\u75c7\u72b6\u304c\u4f3c\u3066\u3044\u308b\u4ed6\u306e\u75be\u60a3\u304c\u305f\u304f\u3055\u3093\u3042\u308a\u307e\u3059\u3002\u305d\u306e\u305f\u3081\u3001\u533b\u5e2b\u306f\u307e\u305a\u767a\u9054\u306e\u9045\u308c\u3084\u7279\u5fb4\u7684\u306a\u9854\u7acb\u3061\u3001\u5fc3\u81d3\u306e\u691c\u67fb\u7d50\u679c\u306a\u3069\u3092\u7dcf\u5408\u7684\u306b\u8a3a\u3066\u3001\u3055\u307e\u3056\u307e\u306a\u53ef\u80fd\u6027\u3092\u8003\u3048\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%BA%E4%BC%9D%E5%AD%A6%E7%9A%84%E6%A4%9C%E6%9F%BB\"><\/span><strong>\u907a\u4f1d\u5b66\u7684\u691c\u67fb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u78ba\u5b9a\u8a3a\u65ad\u306e\u305f\u3081\u306b\u306f\u3001\u8840\u6db2\u3092\u63a1\u53d6\u3057\u3066DNA\u3092\u8abf\u3079\u308b\u691c\u67fb\u304c\u884c\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\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<\/p>\n\n\n\n<p>\u67d3\u8272\u4f53\u306e\u5fae\u7d30\u306a\u6b20\u5931\u3084\u91cd\u8907\u3092\u8abf\u3079\u308b\u691c\u67fb\u3067\u3059\u3002MED13L\u907a\u4f1d\u5b50\u3092\u542b\u3080\u9818\u57df\u304c\u3054\u3063\u305d\u308a\u3068\u6b20\u3051\u3066\u3044\u308b\u30bf\u30a4\u30d7\u306e\u5909\u7570\u3067\u3042\u308c\u3070\u3001\u3053\u306e\u691c\u67fb\u3067\u898b\u3064\u3051\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\uff08WES\uff09<\/p>\n\n\n\n<p>\u907a\u4f1d\u5b50\u306e\u3046\u3061\u3001\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u4f5c\u308b\u91cd\u8981\u306a\u90e8\u5206\uff08\u30a8\u30af\u30bd\u30f3\uff09\u3092\u7db2\u7f85\u7684\u306b\u3059\u3079\u3066\u89e3\u8aad\u3059\u308b\u691c\u67fb\u3067\u3059\u3002MED13L\u907a\u4f1d\u5b50\u306e\u4e2d\u306e\u305f\u3063\u305f1\u6587\u5b57\u306e\u5909\u5316\uff08\u70b9\u5909\u7570\uff09\u306a\u3069\u3001\u5fae\u7d30\u306a\u5909\u5316\u3082\u898b\u3064\u3051\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u8fd1\u5e74\u3001\u3053\u306e\u691c\u67fb\u6280\u8853\u304c\u5e83\u307e\u3063\u305f\u3053\u3068\u3067\u3001MED13L\u75c7\u5019\u7fa4\u3068\u8a3a\u65ad\u3055\u308c\u308b\u304a\u5b50\u3055\u3093\u304c\u5897\u3048\u3066\u304d\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<p>\u73fe\u5728\u3001\u539f\u56e0\u4e0d\u660e\u306e\u767a\u9054\u9045\u6ede\u304c\u3042\u308b\u304a\u5b50\u3055\u3093\u306b\u5bfe\u3057\u3066\u3001\u3053\u306e\u691c\u67fb\u304c\u4fdd\u967a\u9069\u7528\u3067\u884c\u308f\u308c\u308b\u30b1\u30fc\u30b9\uff08IRUD\u306a\u3069\uff09\u3082\u5897\u3048\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%B2%BB%E7%99%82%E3%81%A8%E7%AE%A1%E7%90%86\"><\/span><strong>\u6cbb\u7642\u3068\u7ba1\u7406<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u73fe\u5728\u306e\u533b\u5b66\u3067\u306f\u3001\u907a\u4f1d\u5b50\u306e\u5909\u5316\u305d\u306e\u3082\u306e\u3092\u4fee\u5fa9\u3057\u3066\u75c5\u6c17\u3092\u6839\u672c\u304b\u3089\u6cbb\u3059\u6cbb\u7642\u6cd5\u306f\u307e\u3060\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u305d\u308c\u305e\u308c\u306e\u75c7\u72b6\u306b\u5bfe\u3057\u3066\u9069\u5207\u306a\u6cbb\u7642\uff08\u5bfe\u75c7\u7642\u6cd5\uff09\u3068\u30b5\u30dd\u30fc\u30c8\uff08\u7642\u80b2\uff09\u3092\u884c\u3046\u3053\u3068\u3067\u3001\u304a\u5b50\u3055\u3093\u306e\u6301\u3063\u3066\u3044\u308b\u529b\u3092\u6700\u5927\u9650\u306b\u5f15\u304d\u51fa\u3057\u3001\u5065\u5eb7\u3067\u8c4a\u304b\u306a\u751f\u6d3b\u3092\u9001\u308b\u3053\u3068\u306f\u5341\u5206\u306b\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E5%BF%83%E7%96%BE%E6%82%A3%E3%81%AE%E6%B2%BB%E7%99%82\"><\/span><strong>1. \u5fc3\u75be\u60a3\u306e\u6cbb\u7642<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5fc3\u81d3\u306b\u7570\u5e38\u304c\u898b\u3064\u304b\u3063\u305f\u5834\u5408\u306f\u3001\u5c0f\u5150\u5faa\u74b0\u5668\u79d1\u306e\u533b\u5e2b\u304c\u5b9a\u671f\u7684\u306b\u7d4c\u904e\u3092\u89b3\u5bdf\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7a74\u304c\u5c0f\u3055\u3044\u5834\u5408\u306a\u3069\u306f\u3001\u81ea\u7136\u306b\u9589\u3058\u308b\u306e\u3092\u5f85\u3064\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u624b\u8853\u304c\u5fc5\u8981\u306a\u5834\u5408\u3067\u3082\u3001\u9069\u5207\u306a\u6642\u671f\u306b\u624b\u8853\u3092\u884c\u3046\u3053\u3068\u3067\u3001\u5fc3\u81d3\u306e\u6a5f\u80fd\u3092\u6539\u5584\u3057\u3001\u904b\u52d5\u5236\u9650\u306a\u304f\u751f\u6d3b\u3067\u304d\u308b\u3088\u3046\u306b\u306a\u308b\u3053\u3068\u304c\u307b\u3068\u3093\u3069\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E7%99%BA%E9%81%94%E6%94%AF%E6%8F%B4%E3%81%A8%E7%99%82%E8%82%B2%EF%BC%88%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%EF%BC%89\"><\/span><strong>2. \u767a\u9054\u652f\u63f4\u3068\u7642\u80b2\uff08\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>MED13L\u75c7\u5019\u7fa4\u306e\u304a\u5b50\u3055\u3093\u306b\u3068\u3063\u3066\u3001\u65e9\u671f\u304b\u3089\u306e\u7642\u80b2\u306f\u975e\u5e38\u306b\u5927\u304d\u306a\u610f\u5473\u3092\u6301\u3061\u307e\u3059\u3002\u8133\u306e\u53ef\u5851\u6027\uff08\u5909\u5316\u3057\u6210\u9577\u3059\u308b\u529b\uff09\u304c\u9ad8\u3044\u5e7c\u5150\u671f\u304b\u3089\u30a2\u30d7\u30ed\u30fc\u30c1\u3059\u308b\u3053\u3068\u3067\u3001\u767a\u9054\u3092\u4fc3\u3059\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7406\u5b66\u7642\u6cd5\uff08PT\uff09<\/p>\n\n\n\n<p>\u7b4b\u8089\u306e\u5f31\u3055\u3092\u30ab\u30d0\u30fc\u3057\u3001\u6b63\u3057\u3044\u4f53\u306e\u4f7f\u3044\u65b9\u3092\u5b66\u3073\u307e\u3059\u3002\u5bdd\u8fd4\u308a\u3001\u304a\u5ea7\u308a\u3001\u6b69\u884c\u306a\u3069\u306e\u7c97\u5927\u904b\u52d5\u306e\u767a\u9054\u3092\u30b5\u30dd\u30fc\u30c8\u3057\u307e\u3059\u3002\u307e\u305f\u3001\u30a4\u30f3\u30bd\u30fc\u30eb\uff08\u9774\u306e\u4e2d\u6577\u304d\uff09\u3084\u88c5\u5177\u3092\u4f7f\u3063\u3066\u3001\u8db3\u9996\u306e\u5b89\u5b9a\u6027\u3092\u9ad8\u3081\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09<\/p>\n\n\n\n<p>\u624b\u5148\u306e\u7d30\u304b\u306a\u52d5\u304d\uff08\u5fae\u7d30\u904b\u52d5\uff09\u3084\u3001\u7740\u66ff\u3048\u3084\u98df\u4e8b\u306a\u3069\u306e\u65e5\u5e38\u751f\u6d3b\u52d5\u4f5c\u3092\u7df4\u7fd2\u3057\u307e\u3059\u3002\u307e\u305f\u3001\u611f\u899a\u904e\u654f\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u611f\u899a\u7d71\u5408\u7642\u6cd5\u306a\u3069\u3092\u901a\u3058\u3066\u3001\u611f\u899a\u306e\u53d7\u3051\u53d6\u308a\u65b9\u3092\u8abf\u6574\u3059\u308b\u7df4\u7fd2\u3082\u884c\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09<\/p>\n\n\n\n<p>\u8a00\u8449\u306e\u7406\u89e3\u3084\u8868\u51fa\u3092\u4fc3\u3059\u7df4\u7fd2\u3092\u3057\u307e\u3059\u3002\u8a00\u8449\u304c\u51fa\u306b\u304f\u3044\u5834\u5408\u306f\u3001\u30b8\u30a7\u30b9\u30c1\u30e3\u30fc\u3084\u7d75\u30ab\u30fc\u30c9\u3001\u30bf\u30d6\u30ec\u30c3\u30c8\u7aef\u672b\u306a\u3069\u306e\u4ee3\u66ff\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u624b\u6bb5\uff08AAC\uff09\u3092\u6d3b\u7528\u3059\u308b\u3053\u3068\u3067\u3001\u610f\u601d\u758e\u901a\u306e\u697d\u3057\u3055\u3092\u5b66\u3073\u3001\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u610f\u6b32\u3092\u9ad8\u3081\u3066\u3044\u304d\u307e\u3059\u3002\u307e\u305f\u3001\u98df\u3079\u7269\u3092\u565b\u3093\u3067\u98f2\u307f\u8fbc\u3080\uff08\u6442\u98df\u56a5\u4e0b\uff09\u6a5f\u80fd\u306e\u30c8\u30ec\u30fc\u30cb\u30f3\u30b0\u3092\u884c\u3046\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E5%90%88%E4%BD%B5%E7%97%87%E3%81%AE%E3%82%B9%E3%82%AF%E3%83%AA%E3%83%BC%E3%83%8B%E3%83%B3%E3%82%B0%E3%81%A8%E7%AE%A1%E7%90%86\"><\/span><strong>3. \u5408\u4f75\u75c7\u306e\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3068\u7ba1\u7406<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5b9a\u671f\u7684\u306b\u5168\u8eab\u306e\u30c1\u30a7\u30c3\u30af\u3092\u884c\u3046\u3053\u3068\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u773c\u79d1\u691c\u8a3a\uff1a\u659c\u8996\u3084\u8996\u529b\u306e\u554f\u984c\u3092\u65e9\u671f\u306b\u898b\u3064\u3051\u3001\u773c\u93e1\u306a\u3069\u3067\u77ef\u6b63\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8074\u529b\u691c\u67fb\uff1a\u96e3\u8074\u304c\u306a\u3044\u304b\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u795e\u7d4c\u5185\u79d1\u53d7\u8a3a\uff1a\u3066\u3093\u304b\u3093\u767a\u4f5c\u304c\u7591\u308f\u308c\u308b\u5834\u5408\u306f\u8133\u6ce2\u691c\u67fb\u3092\u884c\u3044\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u304a\u85ac\u3092\u958b\u59cb\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6574\u5f62\u5916\u79d1\u7684\u30c1\u30a7\u30c3\u30af\uff1a\u5074\u5f2f\uff08\u80cc\u9aa8\u306e\u66f2\u304c\u308a\uff09\u306a\u3069\u304c\u9032\u884c\u3057\u3066\u3044\u306a\u3044\u304b\u30c1\u30a7\u30c3\u30af\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E6%95%99%E8%82%B2%E3%81%A8%E7%94%9F%E6%B4%BB%E7%92%B0%E5%A2%83%E3%81%AE%E8%AA%BF%E6%95%B4\"><\/span><strong>4. \u6559\u80b2\u3068\u751f\u6d3b\u74b0\u5883\u306e\u8abf\u6574<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5c31\u5b66\u306b\u969b\u3057\u3066\u306f\u3001\u304a\u5b50\u3055\u3093\u306e\u767a\u9054\u6bb5\u968e\u3084\u7279\u6027\u306b\u5408\u308f\u305b\u3066\u3001\u5730\u57df\u306e\u5c0f\u5b66\u6821\u306e\u901a\u5e38\u5b66\u7d1a\u3001\u901a\u7d1a\u6307\u5c0e\u6559\u5ba4\u3001\u7279\u5225\u652f\u63f4\u5b66\u7d1a\u3001\u3042\u308b\u3044\u306f\u7279\u5225\u652f\u63f4\u5b66\u6821\u306a\u3069\u3001\u6700\u3082\u9069\u3057\u305f\u5b66\u3073\u306e\u5834\u3092\u9078\u629e\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8996\u899a\u7684\u306a\u60c5\u5831\u51e6\u7406\u304c\u5f97\u610f\u306a\u304a\u5b50\u3055\u3093\u304c\u591a\u3044\u305f\u3081\u3001\u5b66\u6821\u3084\u5bb6\u5ead\u3067\u306f\u3001\u8a00\u8449\u3060\u3051\u3067\u306a\u304f\u7d75\u3084\u5199\u771f\u3092\u4f7f\u3063\u3066\u30b9\u30b1\u30b8\u30e5\u30fc\u30eb\u3084\u624b\u9806\u3092\u793a\u3059\uff08\u8996\u899a\u652f\u63f4\uff09\u3068\u3001\u7406\u89e3\u3057\u3084\u3059\u304f\u306a\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%BE%E3%81%A8%E3%82%81\"><\/span><strong>\u307e\u3068\u3081<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>MED13L\u75c7\u5019\u7fa4\u306b\u3064\u3044\u3066\u306e\u91cd\u8981\u306a\u30dd\u30a4\u30f3\u30c8\u3092\u632f\u308a\u8fd4\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u75c5\u6c17\u306e\u672c\u8cea<\/p>\n\n\n\n<p>MED13L\u907a\u4f1d\u5b50\u306e\u50cd\u304d\u304c\u4e0d\u8db3\u3059\u308b\u3053\u3068\u3067\u3001\u8133\u3084\u4f53\u306e\u767a\u9054\u306e\u6307\u4ee4\u304c\u3046\u307e\u304f\u4f1d\u308f\u3089\u306a\u3044\u751f\u307e\u308c\u3064\u304d\u306e\u4f53\u8cea\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u4e3b\u306a\u7279\u5fb4<\/p>\n\n\n\n<p>\u904b\u52d5\u3084\u8a00\u8449\u306e\u767a\u9054\u304c\u3086\u3063\u304f\u308a\u3067\u3042\u308b\u3053\u3068\u3001\u4e2d\u7b49\u5ea6\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3001\u611b\u3089\u3057\u3044\u7279\u5fb4\u7684\u306a\u304a\u9854\u7acb\u3061\u3001\u305d\u3057\u3066\u7d04\u534a\u6570\u306b\u898b\u3089\u308c\u308b\u5148\u5929\u6027\u5fc3\u75be\u60a3\u304c\u4e3b\u306a\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u539f\u56e0<\/p>\n\n\n\n<p>\u591a\u304f\u306f\u7a81\u7136\u5909\u7570\u306b\u3088\u308b\u3082\u306e\u3067\u3042\u308a\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<\/p>\n\n\n\n<p>\u898b\u901a\u3057<\/p>\n\n\n\n<p>\u6839\u672c\u6cbb\u7642\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u5fc3\u81d3\u306e\u624b\u8853\u3084\u3001\u7406\u5b66\u7642\u6cd5\u30fb\u4f5c\u696d\u7642\u6cd5\u30fb\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\u306a\u3069\u306e\u7642\u80b2\u3092\u53d7\u3051\u308b\u3053\u3068\u3067\u3001\u7740\u5b9f\u306a\u6210\u9577\u304c\u671f\u5f85\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n<!--nipt_mono-->\r\n<div class=\"nipt-mono\">\r\n    <div class=\"nipt-mono-btn\">\r\n        <a href=\"\/nipt\/nipt-mono\/\">\r\n            <img decoding=\"async\" loading=\"lazy\" src=\"\/nipt\/wp-content\/uploads\/2026\/03\/NIPT-MONO.webp\" alt=\"NIPT-MONO\u3067\u8abf\u3079\u3089\u308c\u307e\u3059\">\r\n         <\/a>\r\n    <\/div>\r\n<\/div>\r\n\r\n<style>\r\n.nipt-mono {\r\n    text-align: center; \/* \u89aa\u8981\u7d20\u3067\u6a2a\u4e2d\u592e *\/\r\n}\r\n.nipt-mono a img {\r\n    display: inline-block; \/* \u753b\u50cf\u3092\u30a4\u30f3\u30e9\u30a4\u30f3\u30d6\u30ed\u30c3\u30af\u5316\u3057\u3066 text-align \u306b\u53cd\u6620 *\/\r\n    width: 333px;\r\n}\r\n<\/style>\r\n<!--\/nipt_mono-->\r\n\r\n\n","protected":false},"excerpt":{"rendered":"\u533b\u5e2b\u304b\u3089\u300cImpaired intell&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/med13l-syndrome-guide\/\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":122,"featured_media":121744,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[1392],"tags":[],"class_list":["post-123064","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-1392"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/123064","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/users\/122"}],"replies":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/comments?post=123064"}],"version-history":[{"count":2,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/123064\/revisions"}],"predecessor-version":[{"id":126278,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/123064\/revisions\/126278"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/121744"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=123064"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=123064"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=123064"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}