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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autosomal-dominant-mental-retardation-15-dyrk1a\/#DYRK1A%E7%97%87%E5%80%99%E7%BE%A4%E3%81%A8%E3%81%AF%E3%80%81%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\" >DYRK1A\u75c7\u5019\u7fa4\u3068\u306f\u3001\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-24\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autosomal-dominant-mental-retardation-15-dyrk1a\/#%E3%83%80%E3%82%A6%E3%83%B3%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%AB%E9%81%95%E3%81%84%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >\u30c0\u30a6\u30f3\u75c7\u5019\u7fa4\u3068\u306f\u3069\u306e\u3088\u3046\u306b\u9055\u3044\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-25\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autosomal-dominant-mental-retardation-15-dyrk1a\/#%E5%B0%8F%E9%A0%AD%E7%97%87%E3%82%84%E3%81%A6%E3%82%93%E3%81%8B%E3%82%93%E3%81%AF%E3%81%A9%E3%81%AE%E3%81%8F%E3%82%89%E3%81%84%E3%81%AE%E5%89%B2%E5%90%88%E3%81%A7%E8%A6%8B%E3%82%89%E3%82%8C%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >\u5c0f\u982d\u75c7\u3084\u3066\u3093\u304b\u3093\u306f\u3069\u306e\u304f\u3089\u3044\u306e\u5272\u5408\u3067\u898b\u3089\u308c\u307e\u3059\u304b\u3002<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-26\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autosomal-dominant-mental-retardation-15-dyrk1a\/#%E6%AC%A1%E3%81%AE%E5%AD%90%E3%81%A9%E3%82%82%E3%81%AB%E3%82%82%E5%90%8C%E3%81%98%E7%97%85%E6%B0%97%E3%81%8C%E8%B5%B7%E3%81%93%E3%82%8B%E5%8F%AF%E8%83%BD%E6%80%A7%E3%81%AF%E3%81%82%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >\u6b21\u306e\u5b50\u3069\u3082\u306b\u3082\u540c\u3058\u75c5\u6c17\u304c\u8d77\u3053\u308b\u53ef\u80fd\u6027\u306f\u3042\u308a\u307e\u3059\u304b\u3002<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-27\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autosomal-dominant-mental-retardation-15-dyrk1a\/#%E8%A8%BA%E6%96%AD%E3%81%AB%E3%81%AF%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E6%A4%9C%E6%9F%BB%E3%81%8C%E5%BF%85%E8%A6%81%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\" >\u8a3a\u65ad\u306b\u306f\u3069\u306e\u3088\u3046\u306a\u691c\u67fb\u304c\u5fc5\u8981\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-28\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autosomal-dominant-mental-retardation-15-dyrk1a\/#%E5%A6%8A%E5%A8%A0%E4%B8%AD%E3%81%AENIPT%E3%81%A7%E3%81%93%E3%81%AE%E7%97%85%E6%B0%97%E3%81%AF%E3%82%8F%E3%81%8B%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >\u598a\u5a20\u4e2d\u306eNIPT\u3067\u3053\u306e\u75c5\u6c17\u306f\u308f\u304b\u308a\u307e\u3059\u304b\u3002<\/a><\/li><\/ul><\/li><\/ul><\/nav><\/div>\n<h2 style=\"margin-top:1rem;\"><span class=\"ez-toc-section\" id=\"%E3%81%93%E3%81%AE%E8%A8%98%E4%BA%8B%E3%81%AE%E7%B5%90%E8%AB%96\"><\/span>\u3053\u306e\u8a18\u4e8b\u306e\u7d50\u8ad6<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p><strong>DYRK1A\u75c7\u5019\u7fa4\u306f\u300121\u756a\u67d3\u8272\u4f53\u4e0a\u306eDYRK1A\u907a\u4f1d\u5b50\u306e\u50cd\u304d\u304c\u534a\u5206\u306b\u6e1b\u308b\u3053\u3068\uff08\u30cf\u30d7\u30ed\u4e0d\u5168\uff09\u3067\u8d77\u3053\u308b\u795e\u7d4c\u767a\u9054\u75c7\u3067\u3059\u3002<\/strong>\u5c0f\u982d\u75c7\u30fb\u8a00\u8a9e\u767a\u9054\u306e\u9045\u308c\u30fb\u7279\u5fb4\u7684\u306a\u9854\u7acb\u3061\u3092\u4e3b\u306a\u7279\u5fb4\u3068\u3057\u3001GeneReviews(\u7c73\u56fd\u56fd\u7acb\u533b\u5b66\u56f3\u66f8\u9928)\u306e\u5831\u544a\u3067\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u307e\u305f\u306fASD\u3092\u6301\u3064\u65b9\u306e0.1\u301c0.5%\u3092\u5360\u3081\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u307b\u3068\u3093\u3069\u306e\u75c7\u4f8b\u306f\u7a81\u7136\u5909\u7570\uff08\u30c7\u30ce\u30dc\uff09\u3067\u767a\u751f\u3057\u3001\u3054\u4e21\u89aa\u306e\u907a\u4f1d\u5b50\u304c\u539f\u56e0\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u672c\u8a18\u4e8b\u3067\u306f\u3001\u75c7\u72b6\u306e\u51fa\u73fe\u983b\u5ea6\u30c7\u30fc\u30bf\u30fb\u4f3c\u305f\u75be\u60a3\u3068\u306e\u9451\u5225\u30fb\u907a\u4f1d\u306e\u4ed5\u7d44\u307f\u30fb\u598a\u5a20\u4e2d\u306e\u691c\u67fb\u3068\u306e\u95a2\u4fc2\u3092\u3001\u516c\u7684\u60c5\u5831\u6e90\u306b\u3082\u3068\u3065\u3044\u3066\u6574\u7406\u3057\u307e\u3059\u3002<\/p><\/div>\n\n\n\n<div style=\"border:solid #e6f0ff 0.6rem;background-color:#f7fbff;padding:3% 5%;margin:1rem 0 3rem;\">\n<h2 style=\"margin-top:1rem;\"><span class=\"ez-toc-section\" id=\"%E3%81%93%E3%81%AE%E8%A8%98%E4%BA%8B%E3%81%A7%E3%82%8F%E3%81%8B%E3%82%8B%E3%81%93%E3%81%A8\"><\/span>\u3053\u306e\u8a18\u4e8b\u3067\u308f\u304b\u308b\u3053\u3068<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<ul>\n<li>DYRK1A\u75c7\u5019\u7fa4\u306e\u539f\u56e0\u3068\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/testing\/\"><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/testing\/\">\u30c0\u30a6\u30f3\u75c7<\/a>\u5019\u7fa4<\/a>\u3068\u6b63\u53cd\u5bfe\u306e\u4ed5\u7d44\u307f\u3067\u8d77\u3053\u308b\u7406\u7531<\/li>\n<li>\u5c0f\u982d\u75c7\u30fb\u3066\u3093\u304b\u3093\u30fb\u8a00\u8a9e\u767a\u9054\u9045\u6ede\u306a\u3069\u3001\u75c7\u72b6\u3054\u3068\u306e\u5831\u544a\u983b\u5ea6<\/li>\n<li>\u30a2\u30f3\u30b8\u30a7\u30eb\u30de\u30f3\u75c7\u5019\u7fa4\u306a\u3069\u4f3c\u305f\u75be\u60a3\u3068\u306e\u898b\u5206\u3051\u65b9<\/li>\n<li>\u6b21\u306e\u304a\u5b50\u69d8\u3078\u306e\u907a\u4f1d\u30ea\u30b9\u30af\u3068\u3001\u598a\u5a20\u4e2d\u306e\u691c\u67fb\u3067\u308f\u304b\u308b\u3053\u3068\u30fb\u308f\u304b\u3089\u306a\u3044\u3053\u3068<\/li>\n<\/ul>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%AF%E3%81%98%E3%82%81%E3%81%AB%EF%BC%9ADYRK1A%E7%97%87%E5%80%99%E7%BE%A4%E3%81%A8%E3%81%AF\"><\/span><strong>\u306f\u3058\u3081\u306b\uff1aDYRK1A\u75c7\u5019\u7fa4\u3068\u306f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u691c\u67fb\u7d50\u679c\u3084\u7d39\u4ecb\u72b6\u306b\u300cDYRK1A\u907a\u4f1d\u5b50\u306e\u5909\u7570\u300d\u300c21q22.13\u306e\u6b20\u5931\u300d\u3068\u66f8\u304b\u308c\u3001\u3053\u306e\u75c5\u6c17\u306b\u3064\u3044\u3066\u8abf\u3079\u3066\u3044\u308b\u65b9\u3082\u3044\u308b\u3067\u3057\u3087\u3046\u3002DYRK1A\u75c7\u5019\u7fa4\u306e\u75c7\u72b6\u3084\u6cbb\u7642\u306e\u5168\u4f53\u50cf\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/intellectual-developmental-disorder-7-dyrk1a-guide\/\">DYRK1A\u95a2\u9023\u75c7\u5019\u7fa4\uff08MRD7\uff09\u306e\u57fa\u790e\u89e3\u8aac\u8a18\u4e8b<\/a>\u3067\u8a73\u3057\u304f\u307e\u3068\u3081\u3066\u3044\u307e\u3059\u3002\u672c\u8a18\u4e8b\u3067\u306f\u3001\u305d\u306e\u4e2d\u3067\u3082\u75c7\u72b6\u306e\u51fa\u73fe\u983b\u5ea6\u30c7\u30fc\u30bf\u30fb\u4ed6\u306e\u75be\u60a3\u3068\u306e\u9451\u5225\u30fb\u907a\u4f1d\u306e\u4ed5\u7d44\u307f\u306b\u7684\u3092\u3057\u307c\u3063\u3066\u3001\u3088\u308a\u6df1\u304f\u6398\u308a\u4e0b\u3052\u307e\u3059\u3002<\/p>\n\n\n\n<p>DYRK1A\u75c7\u5019\u7fa4\u306f\u975e\u5e38\u306b\u307e\u308c\u306a\u75c5\u6c17\u3067\u3059\u3002GeneReviews\u306e\u5831\u544a\u3067\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u307e\u305f\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7<\/a>\uff08ASD\uff09\u3092\u6301\u3064\u65b9\u5168\u4f53\u306e\u3046\u3061\u30010.1\u301c0.5%\u7a0b\u5ea6\u3092\u5360\u3081\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u307e\u308c\u306a\u75c5\u6c17\u3067\u3042\u308b\u3076\u3093\u3001\u60c5\u5831\u304c\u5c11\u306a\u304f\u4e0d\u5b89\u3092\u611f\u3058\u308b\u4fdd\u8b77\u8005\u306e\u65b9\u3082\u591a\u3044\u306f\u305a\u3067\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 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class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>DYRK1A\u75c7\u5019\u7fa4\u306f\u300121\u756a\u67d3\u8272\u4f53\uff0821q22.13\uff09\u306b\u3042\u308bDYRK1A\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3001\u307e\u305f\u306f\u3053\u306e\u9818\u57df\u3092\u542b\u3080\u5fae\u7d30\u6b20\u5931\u306b\u3088\u3063\u3066\u8d77\u3053\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"DYRK1A%EF%BC%88%E3%82%AD%E3%83%8A%E3%83%BC%E3%82%BC%EF%BC%89%E3%81%A8%E3%81%84%E3%81%86%E3%82%BF%E3%83%B3%E3%83%91%E3%82%AF%E8%B3%AA%E3%81%AE%E5%BD%B9%E5%89%B2\"><\/span><strong>DYRK1A\uff08\u30ad\u30ca\u30fc\u30bc\uff09\u3068\u3044\u3046\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u5f79\u5272<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>DYRK1A\u306f\u3001\u795e\u7d4c\u7d30\u80de\u306e\u5897\u6b96\u30fb\u5206\u5316\u30fb\u30b7\u30ca\u30d7\u30b9\u5f62\u6210\u3092\u8abf\u7bc0\u3059\u308b\u9175\u7d20\uff08\u30ad\u30ca\u30fc\u30bc\uff09\u3067\u3059\u3002\u8133\u304c\u6b63\u3057\u304f\u7d44\u307f\u7acb\u3066\u3089\u308c\u3066\u3044\u304f\u904e\u7a0b\u3067\u3001\u53f8\u4ee4\u5854\u306e\u3088\u3046\u306a\u5f79\u5272\u3092\u62c5\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%83%8F%E3%83%97%E3%83%AD%E4%B8%8D%E5%85%A8%E3%81%A8%E3%81%AF%E4%BD%95%E3%81%8B\"><\/span><strong>\u30cf\u30d7\u30ed\u4e0d\u5168\u3068\u306f\u4f55\u304b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u907a\u4f1d\u5b50\u306f\u901a\u5e38\u3001\u7236\u65b9\u30fb\u6bcd\u65b9\u304b\u30891\u672c\u305a\u3064\u3001\u5408\u8a082\u672c\u53d7\u3051\u7d99\u304e\u307e\u3059\u3002DYRK1A\u75c7\u5019\u7fa4\u3067\u306f\u7247\u65b9\u306e\u907a\u4f1d\u5b50\u304c\u50cd\u304b\u306a\u304f\u306a\u308a\u3001\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u91cf\u304c\u901a\u5e38\u306e\u534a\u5206\u7a0b\u5ea6\u306b\u6e1b\u308a\u307e\u3059\u3002\u3053\u306e\u72b6\u614b\u3092\u300c\u30cf\u30d7\u30ed\u4e0d\u5168\u300d\u3068\u547c\u3073\u307e\u3059\u3002\u8133\u306e\u30dc\u30ea\u30e5\u30fc\u30e0\u304c\u5168\u4f53\u7684\u306b\u5c0f\u3055\u304f\u306a\u308b\u5c0f\u982d\u75c7\u306f\u3001\u3053\u306e\u91cf\u7684\u306a\u4e0d\u8db3\u3092\u53cd\u6620\u3057\u305f\u7d50\u679c\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%83%80%E3%82%A6%E3%83%B3%E7%97%87%E5%80%99%E7%BE%A4%E3%81%A8%E3%81%AE%E5%AF%BE%E6%AF%94%EF%BC%88%E7%94%A8%E9%87%8F%E5%8A%B9%E6%9E%9C%EF%BC%89\"><\/span><strong>\u30c0\u30a6\u30f3\u75c7\u5019\u7fa4\u3068\u306e\u5bfe\u6bd4\uff08\u7528\u91cf\u52b9\u679c\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u540c\u3058DYRK1A\u907a\u4f1d\u5b50\u3067\u3082\u3001\u91cf\u304c\u5897\u3048\u308b\u304b\u6e1b\u308b\u304b\u3067\u6b63\u53cd\u5bfe\u306e\u75c5\u6c17\u304c\u8d77\u3053\u308a\u307e\u3059\u3002\u3053\u306e\u5bfe\u7167\u7684\u306a\u95a2\u4fc2\u3092\u8868\u306b\u6574\u7406\u3057\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<figure class=\"wp-block-table\"><table class=\"has-fixed-layout\"><thead><tr><th>\u72b6\u614b<\/th><th>DYRK1A\u306e\u91cf\uff08\u76ee\u5b89\uff09<\/th><th>\u8133\u3078\u306e\u4e3b\u306a\u5f71\u97ff<\/th><\/tr><\/thead><tbody><tr><td>DYRK1A\u75c7\u5019\u7fa4<\/td><td>\u7d040.5\u500d\uff081\u672c\u304c\u6a5f\u80fd\u55aa\u5931\uff09<\/td><td>\u795e\u7d4c\u7d30\u80de\u6570\u306e\u4e0d\u8db3\u3001\u5c0f\u982d\u75c7\u3001\u91cd\u5ea6\u306e\u767a\u9054\u9045\u5ef6<\/td><\/tr><tr><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/testing\/\"><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/testing\/\">\u30c0\u30a6\u30f3\u75c7<\/a>\u5019\u7fa4<\/a>\uff0821\u30c8\u30ea\u30bd\u30df\u30fc\uff09<\/td><td>\u7d041.5\u500d\uff083\u672c\u5b58\u5728\uff09<\/td><td>\u904e\u5270\u306a\u767a\u73fe\u306b\u3088\u308b\u8133\u767a\u9054\u3078\u306e\u5f71\u97ff\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a><\/td><\/tr><tr><td>\u901a\u5e38<\/td><td>1\u500d\uff082\u672c\uff09<\/td><td>\u57fa\u6e96\u3068\u306a\u308b\u767a\u9054\u30d1\u30bf\u30fc\u30f3<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<p>\u3072\u3068\u3053\u3068\u3067\u8a00\u3048\u3070\u3001DYRK1A\u306f\u591a\u3059\u304e\u3066\u3082\u5c11\u306a\u3059\u304e\u3066\u3082\u8133\u306e\u767a\u9054\u306b\u5f71\u97ff\u3059\u308b\u7e4a\u7d30\u306a\u907a\u4f1d\u5b50\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/testing\/\"><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/testing\/\">\u30c0\u30a6\u30f3\u75c7<\/a>\u5019\u7fa4<\/a>\u7814\u7a76\u3067\u5f97\u3089\u308c\u305f\u77e5\u898b\u304c\u3001DYRK1A\u75c7\u5019\u7fa4\u306e\u6cbb\u7642\u7814\u7a76\u306b\u3082\u5fdc\u7528\u3055\u308c\u308b\u7406\u7531\u304c\u3053\u3053\u306b\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/intellectual-developmental-disorder-7-dyrk1a-guide\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u5e38\u67d3\u8272\u4f53\u9855\u6027\u77e5\u7684\u767a\u9054\u969c\u5bb37\u578b\uff08MRD7\uff0fDYRK1A\u95a2\u9023\u75c7\u5019\u7fa4\uff09 <\/div>\n          <div class=\"blog-card-excerpt\">\u77e5\u7684\u767a\u9054\u969c\u5bb37\u578b\uff08MRD7\uff09\u3001\u3042\u308b\u3044\u306fDYRK1A\u95a2\u9023\u75c7\u5019\u7fa4\u3068\u8a3a\u65ad\u3055\u308c\u305f\u65b9\u3001\u3054\u5bb6\u65cf\u3078\u3002DYRK1A\u907a\u4f1d\u5b50\u5909\u7570\u306b\u3088\u308b\u3053\u306e\u75c5\u6c17\u306e\u7279\u5fb4\u3001\u5c0f\u982d\u75c7\u3001\u8a00...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E7%97%87%E7%8A%B6%E3%81%AE%E9%A0%BB%E5%BA%A6%E3%83%87%E3%83%BC%E3%82%BF%EF%BC%9A%E6%95%B0%E5%AD%97%E3%81%A7%E8%A6%8B%E3%82%8B%E8%87%A8%E5%BA%8A%E7%9A%84%E7%89%B9%E5%BE%B4\"><\/span><strong>2. \u75c7\u72b6\u306e\u983b\u5ea6\u30c7\u30fc\u30bf\uff1a\u6570\u5b57\u3067\u898b\u308b\u81e8\u5e8a\u7684\u7279\u5fb4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>DYRK1A\u75c7\u5019\u7fa4\u306b\u306f\u3001\u8a3a\u65ad\u306e\u304d\u3063\u304b\u3051\u3068\u306a\u308b\u7279\u5fb4\u7684\u306a\u75c7\u72b6\u304c\u3042\u308a\u307e\u3059\u3002\u6570\u5b57\u3067\u898b\u308b\u3001\u75c7\u72b6\u3054\u3068\u306e\u5831\u544a\u983b\u5ea6\u3002<\/p>\n\n\n\n<figure class=\"wp-block-table\"><table class=\"has-fixed-layout\"><thead><tr><th>\u75c7\u72b6<\/th><th>\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u983b\u5ea6<\/th><\/tr><\/thead><tbody><tr><td>\u8a00\u8a9e\u767a\u9054\u306e\u9045\u308c<\/td><td>\u307b\u307c\u5168\u4f8b<\/td><\/tr><tr><td>\u5c0f\u982d\u75c7\uff08\u9032\u884c\u6027\uff09<\/td><td>\u7d0495%<\/td><\/tr><tr><td>\u6442\u98df\u56f0\u96e3<\/td><td>\u7d0493%<\/td><\/tr><tr><td>\u773c\u306e\u7570\u5e38<\/td><td>\u7d0479%<\/td><\/tr><tr><td>\u3066\u3093\u304b\u3093\u767a\u4f5c<\/td><td>\u7d0465%<\/td><\/tr><tr><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7<\/a>\u69d8\u306e\u884c\u52d5\u7279\u6027<\/td><td>\u7d0446\u301c69%<\/td><\/tr><tr><td>\u6ccc\u5c3f\u751f\u6b96\u5668\u306e\u7570\u5e38<\/td><td>\u7d0440%<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<p>\u3066\u3093\u304b\u3093\u306f\u5e7c\u5150\u671f\u304b\u3089\u306e\u71b1\u6027\u3051\u3044\u308c\u3093\u30fb\u6b20\u795e\u767a\u4f5c\u30fb\u8131\u529b\u767a\u4f5c\u3068\u3044\u3046\u5f62\u3067\u73fe\u308c\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u6210\u9577\u3068\u3068\u3082\u306b\u843d\u3061\u7740\u304f\u4f8b\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u79c1\u81ea\u8eab\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u73fe\u5834\u3067\u300c\u3053\u306e\u6570\u5b57\u306f\u81ea\u5206\u306e\u5b50\u306b\u4f55\u304c\u8d77\u3053\u308b\u304b\u306e\u4e88\u8a00\u3067\u306f\u306a\u3044\u300d\u3068\u4f1d\u3048\u308b\u3053\u3068\u3092\u5fc3\u304c\u3051\u3066\u3044\u307e\u3059\u3002\u983b\u5ea6\u30c7\u30fc\u30bf\u306f\u3042\u304f\u307e\u3067\u96c6\u56e3\u3068\u3057\u3066\u306e\u50be\u5411\u3067\u3042\u308a\u3001\u4e00\u4eba\u3072\u3068\u308a\u306e\u7d4c\u904e\u306f\u7570\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%A1%94%E8%B2%8C%E3%81%AE%E7%89%B9%E5%BE%B4\"><\/span><strong>\u9854\u8c8c\u306e\u7279\u5fb4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5c02\u9580\u533b\u304c\u898b\u308c\u3070\u4e00\u76ee\u3067\u7591\u3046\u307b\u3069\u3001\u5171\u901a\u3057\u305f\u9854\u7acb\u3061\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6df1\u3044\u773c\u7aa9:<\/strong> \u76ee\u304c\u5965\u306b\u5f15\u3063\u8fbc\u3093\u3067\u3044\u308b\u3088\u3046\u306b\u898b\u3048\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7a81\u51fa\u3057\u305f\u8033:<\/strong> \u9854\u306e\u30d0\u30e9\u30f3\u30b9\u306b\u5bfe\u3057\u3066\u8033\u304c\u5927\u304d\u304f\u3001\u4f4d\u7f6e\u304c\u4f4e\u3044\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5e83\u3044\u9f3b\u6839\u90e8\u3068\u77ed\u3044\u9f3b:<\/strong> \u9f3b\u306e\u4ed8\u3051\u6839\u304c\u5e83\u304f\u3001\u9f3b\u5148\u304c\u77ed\u3044\u306e\u304c\u7279\u5fb4\u3067\u3059\u3002<\/li>\n<\/ul>\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<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E8%A8%BA%E6%96%AD%E3%81%A8%E9%91%91%E5%88%A5%E8%A8%BA%E6%96%AD%EF%BC%9A%E4%BC%BC%E3%81%9F%E7%96%BE%E6%82%A3%E3%81%A8%E3%81%AE%E8%A6%8B%E5%88%86%E3%81%91%E6%96%B9\"><\/span><strong>3. \u8a3a\u65ad\u3068\u9451\u5225\u8a3a\u65ad\uff1a\u4f3c\u305f\u75be\u60a3\u3068\u306e\u898b\u5206\u3051\u65b9<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>DYRK1A\u75c7\u5019\u7fa4\u306f\u3001\u81e8\u5e8a\u75c7\u72b6\u3060\u3051\u3067\u4ed6\u306e\u795e\u7d4c\u767a\u9054\u75c7\u3068\u533a\u5225\u3059\u308b\u3053\u3068\u304c\u96e3\u3057\u3044\u305f\u3081\u3001\u78ba\u5b9a\u8a3a\u65ad\u306b\u306f\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u304c\u6b20\u304b\u305b\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%A2%BA%E5%AE%9A%E8%A8%BA%E6%96%AD%E3%81%B8%E3%81%AE%E3%82%B9%E3%83%86%E3%83%83%E3%83%97\"><\/span><strong>\u78ba\u5b9a\u8a3a\u65ad\u3078\u306e\u30b9\u30c6\u30c3\u30d7<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>\u67d3\u8272\u4f53<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u691c\u67fb:<\/strong> 21\u756a\u67d3\u8272\u4f53\u306e\u5fae\u7d30\u6b20\u5931\u3092\u78ba\u8a8d\u3059\u308b\u3001\u6700\u521d\u306b\u884c\u308f\u308c\u308b\u691c\u67fb\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u907a\u4f1d\u5b50\u30d1\u30cd\u30eb\u307e\u305f\u306f\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\uff08WES\uff09:<\/strong> <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u3067\u8a3a\u65ad\u304c\u3064\u304b\u306a\u3044\u5834\u5408\u306b\u3001DYRK1A\u907a\u4f1d\u5b50\u5185\u306e\u70b9\u5909\u7570\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n<\/ol>\n\n\n\n<p>\u75c7\u72b6\u306e\u73fe\u308c\u65b9\u304c\u4f3c\u3066\u3044\u308b\u75be\u60a3\u306f\u8907\u6570\u3042\u308a\u307e\u3059\u3002\u4ee3\u8868\u7684\u306a\u9451\u5225\u75be\u60a3\u3092\u8868\u3067\u6574\u7406\u3057\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<figure class=\"wp-block-table\"><table class=\"has-fixed-layout\"><thead><tr><th>\u75be\u60a3\u540d<\/th><th>DYRK1A\u75c7\u5019\u7fa4\u3068\u306e\u9055\u3044<\/th><\/tr><\/thead><tbody><tr><td>\u30a2\u30f3\u30b8\u30a7\u30eb\u30de\u30f3\u75c7\u5019\u7fa4<\/td><td>\u7b11\u9854\u304c\u591a\u304f\u767a\u9054\u9045\u5ef6\u3084\u3066\u3093\u304b\u3093\u3092\u4f34\u3046\u70b9\u306f\u985e\u4f3c\u3002\u539f\u56e0\u907a\u4f1d\u5b50\uff08UBE3A\u7b49\uff09\u304c\u7570\u306a\u308b<\/td><\/tr><tr><td>\u30d4\u30c3\u30c8\u30fb\u30db\u30d7\u30ad\u30f3\u30b9\u75c7\u5019\u7fa4<\/td><td>\u91cd\u5ea6\u306e\u767a\u9054\u9045\u5ef6\u3068\u7279\u5fb4\u7684\u9854\u8c8c\u3092\u4f34\u3046\u304c\u3001\u547c\u5438\u7570\u5e38\uff08\u904e\u547c\u5438\u30fb\u7121\u547c\u5438\uff09\u3092\u4f34\u3046\u70b9\u304c\u7279\u5fb4\u7684<\/td><\/tr><tr><td>MEF2C\u30cf\u30d7\u30ed\u4e0d\u5168\u75c7\u5019\u7fa4<\/td><td>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3084\u5e38\u540c\u7684\u306a\u624b\u306e\u52d5\u304d\u304c\u76ee\u7acb\u3064\u70b9\u3067\u533a\u5225\u3055\u308c\u308b<\/td><\/tr><tr><td>CHAMP1\u95a2\u9023\u969c\u5bb3<\/td><td>\u540c\u305821\u756a\u67d3\u8272\u4f53\u8fd1\u508d\u306e\u907a\u4f1d\u5b50\u304c\u539f\u56e0\u3060\u304c\u3001\u75c7\u5019\u7fa4\u3068\u3057\u3066\u306f\u5225\u7269<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<p>\u305d\u308c\u305e\u308c\u306e\u75be\u60a3\u306b\u3064\u3044\u3066\u3055\u3089\u306b\u8a73\u3057\u304f\u77e5\u308a\u305f\u3044\u65b9\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mef2c-related-disorder-guide\/\">MEF2C\u30cf\u30d7\u30ed\u4e0d\u5168\u75c7\u5019\u7fa4\u306e\u89e3\u8aac\u8a18\u4e8b<\/a>\u3082\u3042\u308f\u305b\u3066\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/intellectual-developmental-disorder-13-champ1-guide\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u5e38\u67d3\u8272\u4f53\u9855\u6027\u77e5\u7684\u767a\u9054\u969c\u5bb313\u578b\uff08MRD13\uff0fCHAMP1\u95a2\u9023\u969c\u5bb3\uff09 <\/div>\n          <div class=\"blog-card-excerpt\">\u77e5\u7684\u767a\u9054\u969c\u5bb313\u578b\uff08MRD13\uff09\u3042\u308b\u3044\u306fCHAMP1\u95a2\u9023\u969c\u5bb3\u3068\u8a3a\u65ad\u3055\u308c\u305f\u65b9\u3001\u3054\u5bb6\u65cf\u3078\u3002CHAMP1\u907a\u4f1d\u5b50\u5909\u7570\u306b\u3088\u308b\u3053\u306e\u75c5\u6c17\u306e\u7279\u5fb4\u3001\u91cd\u5ea6\u306e\u8a00\u8449...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E9%81%BA%E4%BC%9D%E3%81%AE%E4%BB%95%E7%B5%84%E3%81%BF%E3%81%A8%E6%AC%A1%E3%81%AE%E3%81%8A%E5%AD%90%E6%A7%98%E3%81%B8%E3%81%AE%E5%BD%B1%E9%9F%BF\"><\/span><strong>4. \u907a\u4f1d\u306e\u4ed5\u7d44\u307f\u3068\u6b21\u306e\u304a\u5b50\u69d8\u3078\u306e\u5f71\u97ff<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>DYRK1A\u75c7\u5019\u7fa4\u306f\u5e38\u67d3\u8272\u4f53\u9855\u6027\u907a\u4f1d\u306e\u5f62\u5f0f\u3092\u3068\u308a\u307e\u3059\u304c\u3001\u5b9f\u969b\u306b\u306f\u307b\u307c\u3059\u3079\u3066\u306e\u75c7\u4f8b\u304c\u65b0\u898f\uff08\u30c7\u30ce\u30dc\uff09\u306e\u5909\u5316\u3068\u3057\u3066\u767a\u751f\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3054\u4e21\u89aa\u304c\u691c\u67fb\u3067\u539f\u56e0\u3068\u306a\u308b\u5909\u5316\u3092\u6301\u3063\u3066\u3044\u306a\u3044\u5834\u5408\u3067\u3082\u3001\u751f\u6b96\u7d30\u80de<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mosaicism\/\">\u30e2\u30b6\u30a4\u30af<\/a>\uff08\u4e00\u90e8\u306e\u7cbe\u5b50\u30fb\u5375\u5b50\u3060\u3051\u306b\u5909\u5316\u304c\u751f\u3058\u3066\u3044\u308b\u72b6\u614b\uff09\u306b\u3088\u308a\u3001\u540c\u80de\uff08\u304d\u3087\u3046\u3060\u3044\uff09\u3078\u306e\u518d\u767a\u30ea\u30b9\u30af\u306f\u7d041%\u6b8b\u308b\u3068GeneReviews\u306f\u5831\u544a\u3057\u3066\u3044\u307e\u3059\u3002\u30bc\u30ed\u3067\u306f\u306a\u3044\u3082\u306e\u306e\u3001\u6c7a\u3057\u3066\u9ad8\u3044\u6570\u5b57\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u6b21\u306e\u304a\u5b50\u69d8\u3078\u306e\u5f71\u97ff\u304c\u3069\u306e\u7a0b\u5ea6\u304b\u306f\u3001<a href=\"https:\/\/www.jshg.jp\/about\/license\/\" target=\"_blank\" rel=\"noopener\">\u81e8\u5e8a\u907a\u4f1d\u5c02\u9580\u533b\u3084\u8a8d\u5b9a\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc<\/a>\u306b\u3088\u308b\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u500b\u5225\u306b\u78ba\u8a8d\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"5_%E6%B2%BB%E7%99%82%E3%81%A8%E3%83%9E%E3%83%8D%E3%82%B8%E3%83%A1%E3%83%B3%E3%83%88%EF%BC%9A%E7%8F%BE%E5%9C%A8%E3%81%A7%E3%81%8D%E3%82%8B%E6%94%AF%E6%8F%B4\"><\/span><strong>5. \u6cbb\u7642\u3068\u30de\u30cd\u30b8\u30e1\u30f3\u30c8\uff1a\u73fe\u5728\u3067\u304d\u308b\u652f\u63f4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u73fe\u6642\u70b9\u3067DYRK1A\u907a\u4f1d\u5b50\u306e\u6a5f\u80fd\u305d\u306e\u3082\u306e\u3092\u56de\u5fa9\u3055\u305b\u308b\u6839\u672c\u6cbb\u7642\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u5404\u75c7\u72b6\u306b\u5fdc\u3058\u305f\u65e9\u671f\u306e\u652f\u63f4\u3068\u3001\u751f\u6daf\u306b\u308f\u305f\u308b\u7d4c\u904e\u89b3\u5bdf\u304c\u4e2d\u5fc3\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%A8%80%E8%AA%9E%E3%81%A8%E3%82%B3%E3%83%9F%E3%83%A5%E3%83%8B%E3%82%B1%E3%83%BC%E3%82%B7%E3%83%A7%E3%83%B3%E3%81%AE%E6%94%AF%E6%8F%B4\"><\/span><strong>\u8a00\u8a9e\u3068\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u306e\u652f\u63f4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4ee3\u66ff\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3:<\/strong> \u767a\u8a71\u304c\u96e3\u3057\u3044\u5834\u5408\u3001\u7d75\u30ab\u30fc\u30c9\u3084\u30bf\u30d6\u30ec\u30c3\u30c8\u7aef\u672b\u3092\u7528\u3044\u305f\u8996\u899a\u7684\u306a\u624b\u6bb5\u3092\u65e9\u671f\u304b\u3089\u5c0e\u5165\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6442\u98df\u8a13\u7df4:<\/strong> \u56a5\u4e0b\u6a5f\u80fd\u306e\u5f31\u3055\u304c\u3042\u308b\u5834\u5408\u3001\u8a00\u8a9e\u8074\u899a\u58eb\uff08ST\uff09\u306e\u6307\u5c0e\u3092\u53d7\u3051\u3066\u304f\u3060\u3055\u3044\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%A5%9E%E7%B5%8C%E5%AD%A6%E7%9A%84%E3%81%AA%E7%AE%A1%E7%90%86\"><\/span><strong>\u795e\u7d4c\u5b66\u7684\u306a\u7ba1\u7406<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3066\u3093\u304b\u3093\u767a\u4f5c\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u767a\u4f5c\u306e\u30bf\u30a4\u30d7\u306b\u5fdc\u3058\u305f\u6297\u3066\u3093\u304b\u3093\u85ac\u306e\u9078\u629e\u3068\u3001\u5b9a\u671f\u7684\u306a\u8133\u6ce2\u691c\u67fb\u304c\u884c\u308f\u308c\u307e\u3059\u3002\u5165\u7720\u56f0\u96e3\u3084\u4e2d\u9014\u899a\u9192\u304c\u591a\u304f\u898b\u3089\u308c\u308b\u305f\u3081\u3001\u7761\u7720\u74b0\u5883\u306e\u8abf\u6574\u3082\u6b20\u304b\u305b\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%94%9F%E6%B6%AF%E3%81%AB%E3%82%8F%E3%81%9F%E3%82%8B%E3%83%95%E3%82%A9%E3%83%AD%E3%83%BC%E3%82%A2%E3%83%83%E3%83%97%E4%BD%93%E5%88%B6\"><\/span><strong>\u751f\u6daf\u306b\u308f\u305f\u308b\u30d5\u30a9\u30ed\u30fc\u30a2\u30c3\u30d7\u4f53\u5236<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>GeneReviews\u306f\u3001\u767a\u9054\u8a55\u4fa1\u30fb\u795e\u7d4c\u753b\u50cf\u691c\u67fb\u30fb\u773c\u79d1\u691c\u67fb\u30fb\u5fc3\u81d3\u8d85\u97f3\u6ce2\u691c\u67fb\u3092\u7d44\u307f\u5408\u308f\u305b\u3001\u5fc3\u81d3\u30fb\u773c\u30fb\u6b6f\u79d1\u306e\u5c02\u9580\u533b\u306b\u3088\u308b\u751f\u6daf\u306b\u308f\u305f\u308b\u30d5\u30a9\u30ed\u30fc\u30a2\u30c3\u30d7\u3092\u7d9a\u3051\u308b\u3088\u3046\u52e7\u3081\u3066\u3044\u307e\u3059\u3002\u7406\u5b66\u7642\u6cd5\uff08PT\uff09\u306b\u3088\u308b\u4f53\u5e79\u3084\u6b69\u884c\u306e\u8a13\u7df4\u3001\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09\u306b\u3088\u308b\u624b\u5148\u306e\u4e0d\u5668\u7528\u3055\u3078\u306e\u30a2\u30d7\u30ed\u30fc\u30c1\u3082\u4e26\u884c\u3057\u3066\u884c\u308f\u308c\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\/2025\/09\/32537667_s.webp\" alt=\"\u533b\u5e2b\u306b\u3088\u308b\u767a\u9054\u652f\u63f4\u306e\u76f8\u8ac7\u3092\u53d7\u3051\u308b\u69d8\u5b50\" class=\"wp-image-116895\"\/><\/figure><\/div>\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"6_%E4%BA%88%E5%BE%8C%E3%81%A8%E6%B2%BB%E7%99%82%E7%A0%94%E7%A9%B6%E3%81%AE%E6%9C%80%E5%89%8D%E7%B7%9A\"><\/span><strong>6. \u4e88\u5f8c\u3068\u6cbb\u7642\u7814\u7a76\u306e\u6700\u524d\u7dda<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%83%A9%E3%82%A4%E3%83%95%E3%82%B9%E3%83%86%E3%83%BC%E3%82%B8%E3%81%AE%E5%B1%95%E6%9C%9B\"><\/span><strong>\u30e9\u30a4\u30d5\u30b9\u30c6\u30fc\u30b8\u306e\u5c55\u671b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u591a\u304f\u306e\u60a3\u8005\u69d8\u306f\u751f\u6daf\u306b\u308f\u305f\u308a\u4e00\u5b9a\u306e\u652f\u63f4\u3092\u5fc5\u8981\u3068\u3057\u307e\u3059\u304c\u3001\u9069\u5207\u306a\u30b1\u30a2\u304c\u3042\u308c\u3070\u5bb6\u5ead\u3084\u798f\u7949\u65bd\u8a2d\u3067\u7a4f\u3084\u304b\u306a\u751f\u6d3b\u3092\u9001\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059\u3002\u6b69\u884c\u306a\u3069\u306e\u904b\u52d5\u80fd\u529b\u306f\u3001\u6642\u9593\u306f\u304b\u304b\u3063\u3066\u3082\u7372\u5f97\u3067\u304d\u308b\u30b1\u30fc\u30b9\u304c\u591a\u304f\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%B2%BB%E7%99%82%E8%96%AC%E7%A0%94%E7%A9%B6%E3%81%AE%E6%9C%80%E5%89%8D%E7%B7%9A\"><\/span><strong>\u6cbb\u7642\u85ac\u7814\u7a76\u306e\u6700\u524d\u7dda<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>DYRK1A\u306e\u30ad\u30ca\u30fc\u30bc\u6d3b\u6027\u3092\u8abf\u6574\u3059\u308b\u4f4e\u5206\u5b50\u5316\u5408\u7269\u306e\u7814\u7a76\u304c\u9032\u3093\u3067\u3044\u307e\u3059\u3002\u73fe\u5728\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/testing\/\"><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/testing\/\">\u30c0\u30a6\u30f3\u75c7<\/a>\u5019\u7fa4<\/a>\uff08\u6d3b\u6027\u904e\u5270\uff09\u3078\u306e\u6291\u5236\u5264\u958b\u767a\u304c\u4e2d\u5fc3\u3067\u3059\u304c\u3001\u5c06\u6765\u7684\u306b\u306f\u53cd\u5bfe\u306e\u72b6\u614b\u306b\u3042\u308bDYRK1A\u75c7\u5019\u7fa4\u306b\u5bfe\u3057\u3001\u6b8b\u3055\u308c\u305f\u907a\u4f1d\u5b50\u306e\u50cd\u304d\u3092\u5f37\u3081\u308b\u6cbb\u7642\u6cd5\u306e\u958b\u767a\u3082\u671f\u5f85\u3055\u308c\u308b\u5206\u91ce\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"7_%E5%A6%8A%E5%A8%A0%E4%B8%AD%E3%81%AE%E6%A4%9C%E6%9F%BB%E3%83%BBNIPT%E3%81%A8%E3%81%AE%E9%96%A2%E4%BF%82\"><\/span><strong>7. \u598a\u5a20\u4e2d\u306e\u691c\u67fb\u30fbNIPT\u3068\u306e\u95a2\u4fc2<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>DYRK1A\u75c7\u5019\u7fa4\u306f\u3001DYRK1A\u907a\u4f1d\u5b501\u3064\u306e\u5909\u5316\u306b\u3088\u3063\u3066\u8d77\u3053\u308b<strong>\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u3067\u3059\u3002<\/strong>NIPT\u306e\u57fa\u672c\u691c\u67fb\u3067\u8abf\u3079\u308b21\u30fb18\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/patau-syndrome\/\">13\u30c8\u30ea\u30bd\u30df\u30fc<\/a>\u306a\u3069\u306e\u67d3\u8272\u4f53\u6570\u306e\u7570\u5e38\u3068\u306f\u3001\u691c\u51fa\u306e\u3057\u304f\u307f\u304c\u307e\u3063\u305f\u304f\u7570\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u307e\u3067\u5bfe\u8c61\u7bc4\u56f2\u3092\u5e83\u3052\u305f\u62e1\u5927NIPT\u306e\u30d7\u30e9\u30f3\u3082\u3042\u308a\u307e\u3059\u3002\u30d7\u30e9\u30f3\u306b\u3088\u3063\u3066\u306f\u3001DYRK1A\u907a\u4f1d\u5b50\u3092\u542b\u3080\u6570\u767e\u7a2e\u985e\u306e\u907a\u4f1d\u5b50\u3084\u300121q22\u9818\u57df\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u3092\u5bfe\u8c61\u3068\u3059\u308b\u691c\u67fb\u9805\u76ee\u304c\u7528\u610f\u3055\u308c\u3066\u3044\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002\u305f\u3060\u3057\u3001\u5bfe\u5fdc\u3059\u308b\u75be\u60a3\u306e\u7bc4\u56f2\u3084\u89e3\u6790\u611f\u5ea6\u306f\u691c\u67fb\u65bd\u8a2d\u30fb\u30d7\u30e9\u30f3\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u3054\u81ea\u8eab\u304c\u691c\u8a0e\u3057\u3066\u3044\u308b\u691c\u67fb\u30d7\u30e9\u30f3\u304cDYRK1A\u95a2\u9023\u306e\u7570\u5e38\u307e\u3067\u5bfe\u8c61\u306b\u542b\u3080\u304b\u3069\u3046\u304b\u306f\u3001\u691c\u67fb\u3092\u53d7\u3051\u308b\u65bd\u8a2d\u306b\u76f4\u63a5\u78ba\u8a8d\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/strong><\/p>\n\n\n\n<p>\u3082\u3046\u4e00\u3064\u77e5\u3063\u3066\u304a\u3044\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\u3060\u3068\u3044\u3046\u70b9\u3067\u3059\u3002<\/strong>\u967d\u6027\u6240\u898b\u3084\u6c17\u306b\u306a\u308b\u7d50\u679c\u304c\u51fa\u305f\u5834\u5408\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u306a\u3069\u306e\u78ba\u5b9a\u691c\u67fb\u3067\u8a3a\u65ad\u3092\u56fa\u3081\u308b\u6d41\u308c\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4eca\u56de\u3001\u3053\u306e\u75c5\u6c17\u306b\u95a2\u3059\u308b\u56fd\u5185\u306e\u5b9f\u4f53\u9a13\u306e\u6295\u7a3f\u3092X\uff08\u65e7Twitter\uff09\u3067\u63a2\u3057\u307e\u3057\u305f\u304c\u3001\u76f4\u8fd1\u3067\u306f\u898b\u5f53\u305f\u308a\u307e\u305b\u3093\u3067\u3057\u305f\u3002\u6975\u3081\u3066\u307e\u308c\u306a\u75c5\u6c17\u3067\u3042\u308b\u305f\u3081\u3001\u4e00\u6b21\u60c5\u5831\u304c\u4e4f\u3057\u3044\u306e\u306f\u81ea\u7136\u306a\u3053\u3068\u3067\u3059\u3002\u672c\u8a18\u4e8b\u3067\u306f\u4ee3\u308f\u308a\u306b\u3001GeneReviews\u30fbOrphanet\u306a\u3069\u56fd\u5185\u5916\u306e\u516c\u7684\u30fb\u5b66\u8853\u60c5\u5831\u3092\u6839\u62e0\u3068\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<div class=\"wp-block-buttons is-content-justification-center is-layout-flex wp-container-core-buttons-is-layout-16018d1d wp-block-buttons-is-layout-flex\">\n<div class=\"wp-block-button\"><a class=\"wp-block-button__link wp-element-button\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/plan-finder\/\" target=\"_blank\" rel=\"noopener\">\u30d7\u30e9\u30f3\u8a3a\u65ad\u3067\u81ea\u5206\u306b\u5408\u3046\u691c\u67fb\u3092\u63a2\u3059<\/a><\/div>\n<\/div>\n\n\n\n    <a href=\"\/nipt\/nipt-intellectual-disability-statistics-probability\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u6570\u5b57\u3067\u898b\u308bNIPT\u3002\u77e5\u7684\u969c\u5bb3\u306e\u78ba\u7387\u30fb\u7684\u4e2d\u7387\u30fb\u9650\u754c <\/div>\n          <div class=\"blog-card-excerpt\">NIPT\u3067\u77e5\u7684\u969c\u5bb3\u304c\u5224\u660e\u3059\u308b\u78ba\u7387\u306f\u3069\u306e\u304f\u3089\u3044\u304b\uff1f35\u6b73\u300140\u6b73\u3068\u3044\u3063\u305f\u5e74\u9f62\u5225\u306e\u67d3\u8272\u4f53\u75be\u60a3\u767a\u751f\u7387\u3001\u691c\u67fb\u306e\u300c\u967d\u6027\u7684\u4e2d\u7387\u300d\u306e\u30ab\u30e9\u30af\u30ea\u3001\u305d\u3057\u3066\u77e5\u7684\u969c...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n    <a href=\"\/nipt\/intellectual-disability-risk-pregnancy\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u77e5\u7684\u969c\u5bb3\u306e\u3042\u308b\u5b50\u3092\u6388\u304b\u308b\u53ef\u80fd\u6027\u3068\u306f\uff1f <\/div>\n          <div class=\"blog-card-excerpt\">\u77e5\u7684\u969c\u5bb3\u306e\u3042\u308b\u5b50\u3092\u6388\u304b\u308b\u53ef\u80fd\u6027\u306f\u3069\u306e\u304f\u3089\u3044\uff1f\u6bcd\u89aa\u30fb\u7236\u89aa\u53cc\u65b9\u306e\u5e74\u9f62\u3084\u907a\u4f1d\u3001\u598a\u5a20\u4e2d\u306e\u30ea\u30b9\u30af\u56e0\u5b50\u3092\u4e2d\u5fc3\u306b\u3001\u5c02\u9580\u7684\u306a\u89b3\u70b9\u3067\u8a73\u3057\u304f\u89e3\u8aac\u3057\u307e\u3059\u3002...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%BE%E3%81%A8%E3%82%81%EF%BC%9A%E3%81%94%E5%AE%B6%E6%97%8F%E3%81%B8%E3%81%AE%E3%83%A1%E3%83%83%E3%82%BB%E3%83%BC%E3%82%B8\"><\/span><strong>\u307e\u3068\u3081\uff1a\u3054\u5bb6\u65cf\u3078\u306e\u30e1\u30c3\u30bb\u30fc\u30b8<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>DYRK1A\u75c7\u5019\u7fa4\u306f\u3001\u8133\u306e\u767a\u9054\u3092\u8abf\u7bc0\u3059\u308bDYRK1A\u3068\u3044\u3046\u30b9\u30a4\u30c3\u30c1\u306e\u50cd\u304d\u304c\u534a\u5206\u306b\u306a\u308b\u3053\u3068\u3067\u8d77\u3053\u308a\u307e\u3059\u3002\u91cd\u5ea6\u306e\u8a00\u8a9e\u969c\u5bb3\u3084\u5c0f\u982d\u75c7\u3068\u3044\u3063\u305f\u8ab2\u984c\u304c\u3042\u308b\u4e00\u65b9\u3067\u3001\u793e\u4ea4\u7684\u3067\u8868\u60c5\u8c4a\u304b\u306a\u6027\u683c\u3092\u6301\u3064\u304a\u5b50\u69d8\u304c\u591a\u3044\u3068\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u907a\u4f1d\u5b50\u8a3a\u65ad\u3068\u3044\u3046\u300c\u540d\u524d\u300d\u304c\u3064\u304f\u3053\u3068\u3067\u3001\u305d\u306e\u5b50\u306e\u7279\u6027\u306b\u5408\u3063\u305f\u6559\u80b2\u74b0\u5883\u3084\u533b\u7642\u7684\u30b1\u30a2\u3092\u9078\u3073\u3084\u3059\u304f\u306a\u308a\u307e\u3059\u3002\u533b\u7642\u8005\u3001\u6559\u80b2\u8005\u3001\u305d\u3057\u3066\u3054\u5bb6\u65cf\u304c\u624b\u3092\u53d6\u308a\u5408\u3044\u3001\u305d\u306e\u5b50\u3089\u3057\u3044\u6210\u9577\u3092\u652f\u3048\u3066\u3044\u304f\u4f53\u5236\u3065\u304f\u308a\u304c\u4f55\u3088\u308a\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u73fe\u5834\u3067\u306f\u3001\u300c\u307e\u308c\u306a\u75c5\u6c17\u3060\u304b\u3089\u3053\u305d\u3001\u8ab0\u306b\u76f8\u8ac7\u3059\u308c\u3070\u3044\u3044\u304b\u5206\u304b\u3089\u306a\u3044\u300d\u3068\u3044\u3046\u58f0\u3092\u4f55\u5ea6\u3082\u805e\u3044\u3066\u304d\u307e\u3057\u305f\u3002\u4e00\u4eba\u3067\u62b1\u3048\u8fbc\u307e\u305a\u3001\u307e\u305a\u306f\u4e3b\u6cbb\u533b\u3084\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u3078\u306e\u76f8\u8ac7\u3092\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/nipt-positive-treatment-therapy-future\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">NIPT\u967d\u6027\u5f8c\u306e\u672a\u6765\u3002\u77e5\u7684\u969c\u5bb3\u306e\u300c\u6cbb\u7642\u300d\u3068\u300c\u7642\u80b2\u300d\u6700\u524d\u7dda <\/div>\n          <div class=\"blog-card-excerpt\">NIPT\u3067\u30c0\u30a6\u30f3\u75c7\u5019\u7fa4\u306a\u3069\u306e\u67d3\u8272\u4f53\u75be\u60a3\u304c\u5224\u660e\u3057\u305f\u5834\u5408\u3001\u77e5\u7684\u969c\u5bb3\u306b\u300c\u6cbb\u7642\u6cd5\u300d\u306f\u3042\u308b\u306e\u304b\uff1f\u73fe\u4ee3\u533b\u7642\u306b\u304a\u3051\u308b\u5408\u4f75\u75c7\u7ba1\u7406\u3001\u8133\u306e\u767a\u9054\u3092\u4fc3\u3059\u65e9\u671f\u7642\u80b2\uff08\u30cf...<\/div>\n      <\/div>\n    <\/a>\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\/line-registration\/\" target=\"_blank\" rel=\"noopener\">LINE\u3067\u7121\u6599\u76f8\u8ac7\u3059\u308b<\/a><\/div>\n<\/div>\n\n\n\n<p>\u304a\u96fb\u8a71\u3067\u306e\u3054\u76f8\u8ac7\u3082\u53d7\u3051\u4ed8\u3051\u3066\u3044\u307e\u3059\u3002<a href=\"tel:0120169629\">0120-169-629<\/a>\u307e\u3067\u304a\u6c17\u8efd\u306b\u304a\u554f\u3044\u5408\u308f\u305b\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n<!--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<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%82%88%E3%81%8F%E3%81%82%E3%82%8B%E8%B3%AA%E5%95%8F\"><\/span><strong>\u3088\u304f\u3042\u308b\u8cea\u554f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"DYRK1A%E7%97%87%E5%80%99%E7%BE%A4%E3%81%A8%E3%81%AF%E3%80%81%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E7%97%85%E6%B0%97%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\"><\/span>DYRK1A\u75c7\u5019\u7fa4\u3068\u306f\u3001\u3069\u306e\u3088\u3046\u306a\u75c5\u6c17\u3067\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>21\u756a\u67d3\u8272\u4f53\u4e0a\u306eDYRK1A\u907a\u4f1d\u5b50\u306e\u5909\u7570\u307e\u305f\u306f\u6b20\u5931\u306b\u3088\u308a\u3001\u907a\u4f1d\u5b50\u306e\u50cd\u304d\u304c\u534a\u5206\u7a0b\u5ea6\u306b\u6e1b\u3063\u3066\u8d77\u3053\u308b\u795e\u7d4c\u767a\u9054\u75c7\u3067\u3059\u3002\u5c0f\u982d\u75c7\u30fb\u8a00\u8a9e\u767a\u9054\u306e\u9045\u308c\u30fb\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u3092\u4e3b\u306a\u7279\u5fb4\u3068\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%83%80%E3%82%A6%E3%83%B3%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%AB%E9%81%95%E3%81%84%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u30c0\u30a6\u30f3\u75c7\u5019\u7fa4\u3068\u306f\u3069\u306e\u3088\u3046\u306b\u9055\u3044\u307e\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u540c\u3058DYRK1A\u907a\u4f1d\u5b50\u304c\u95a2\u308f\u308a\u307e\u3059\u304c\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/testing\/\"><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/testing\/\">\u30c0\u30a6\u30f3\u75c7<\/a>\u5019\u7fa4<\/a>\u3067\u306f\u91cf\u304c\u7d041.5\u500d\u306b\u5897\u3048\u308b\u3053\u3068\u3067\u3001DYRK1A\u75c7\u5019\u7fa4\u3067\u306f\u7d040.5\u500d\u306b\u6e1b\u308b\u3053\u3068\u3067\u3001\u305d\u308c\u305e\u308c\u767a\u9054\u3078\u306e\u5f71\u97ff\u304c\u751f\u3058\u307e\u3059\u3002\u5897\u52a0\u3068\u6e1b\u5c11\u3068\u3044\u3046\u6b63\u53cd\u5bfe\u306e\u4ed5\u7d44\u307f\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%B0%8F%E9%A0%AD%E7%97%87%E3%82%84%E3%81%A6%E3%82%93%E3%81%8B%E3%82%93%E3%81%AF%E3%81%A9%E3%81%AE%E3%81%8F%E3%82%89%E3%81%84%E3%81%AE%E5%89%B2%E5%90%88%E3%81%A7%E8%A6%8B%E3%82%89%E3%82%8C%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u5c0f\u982d\u75c7\u3084\u3066\u3093\u304b\u3093\u306f\u3069\u306e\u304f\u3089\u3044\u306e\u5272\u5408\u3067\u898b\u3089\u308c\u307e\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>GeneReviews\u306e\u5831\u544a\u3067\u306f\u3001\u5c0f\u982d\u75c7\u304c\u7d0495%\u3001\u3066\u3093\u304b\u3093\u767a\u4f5c\u304c\u7d0465%\u306b\u898b\u3089\u308c\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u305f\u3060\u3057\u6570\u5b57\u306f\u3042\u304f\u307e\u3067\u5831\u544a\u4f8b\u306e\u50be\u5411\u3067\u3042\u308a\u3001\u7d4c\u904e\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%AC%A1%E3%81%AE%E5%AD%90%E3%81%A9%E3%82%82%E3%81%AB%E3%82%82%E5%90%8C%E3%81%98%E7%97%85%E6%B0%97%E3%81%8C%E8%B5%B7%E3%81%93%E3%82%8B%E5%8F%AF%E8%83%BD%E6%80%A7%E3%81%AF%E3%81%82%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u6b21\u306e\u5b50\u3069\u3082\u306b\u3082\u540c\u3058\u75c5\u6c17\u304c\u8d77\u3053\u308b\u53ef\u80fd\u6027\u306f\u3042\u308a\u307e\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u307b\u307c\u3059\u3079\u3066\u306e\u75c7\u4f8b\u304c\u30c7\u30ce\u30dc\uff08\u65b0\u898f\uff09\u306e\u5909\u5316\u3067\u3059\u3002\u3054\u4e21\u89aa\u306b\u539f\u56e0\u3068\u306a\u308b\u5909\u5316\u304c\u306a\u3044\u5834\u5408\u3067\u3082\u3001\u751f\u6b96\u7d30\u80de<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mosaicism\/\">\u30e2\u30b6\u30a4\u30af<\/a>\u306b\u3088\u308a\u540c\u80de\u3078\u306e\u518d\u767a\u30ea\u30b9\u30af\u306f\u7d041%\u6b8b\u308a\u307e\u3059\u3002\u8a73\u3057\u304f\u306f\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u78ba\u8a8d\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%A8%BA%E6%96%AD%E3%81%AB%E3%81%AF%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E6%A4%9C%E6%9F%BB%E3%81%8C%E5%BF%85%E8%A6%81%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u8a3a\u65ad\u306b\u306f\u3069\u306e\u3088\u3046\u306a\u691c\u67fb\u304c\u5fc5\u8981\u3067\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u307e\u305a\u67d3\u8272\u4f53<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u691c\u67fb\u306721\u756a\u67d3\u8272\u4f53\u306e\u5fae\u7d30\u6b20\u5931\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002\u8a3a\u65ad\u304c\u3064\u304b\u306a\u3044\u5834\u5408\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u907a\u4f1d\u5b50\u30d1\u30cd\u30eb\u3084\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\uff08WES\uff09\u3067DYRK1A\u907a\u4f1d\u5b50\u5185\u306e\u70b9\u5909\u7570\u3092\u8abf\u3079\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%A6%8A%E5%A8%A0%E4%B8%AD%E3%81%AENIPT%E3%81%A7%E3%81%93%E3%81%AE%E7%97%85%E6%B0%97%E3%81%AF%E3%82%8F%E3%81%8B%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u598a\u5a20\u4e2d\u306eNIPT\u3067\u3053\u306e\u75c5\u6c17\u306f\u308f\u304b\u308a\u307e\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>21\u30fb18\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/patau-syndrome\/\">13\u30c8\u30ea\u30bd\u30df\u30fc<\/a>\u306a\u3069\u306e\u57fa\u672c\u691c\u67fb\u306e\u5bfe\u8c61\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u3084<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\u5927NIPT\u306e\u30d7\u30e9\u30f3\u3067\u306f\u5bfe\u8c61\u306b\u542b\u307e\u308c\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u5bfe\u5fdc\u7bc4\u56f2\u306f\u65bd\u8a2d\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u307e\u3059\u3002\u967d\u6027\u6240\u898b\u304c\u51fa\u305f\u5834\u5408\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u306a\u3069\u306e\u78ba\u5b9a\u691c\u67fb\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p style=\"font-size:0.9em;color:#555;\"><strong>\u76e3\u4fee\uff1a\u5ca1 \u535a\u53f2\uff08\u304a\u304b \u3072\u308d\u3057\uff09<\/strong>\uff0f\u533b\u7642\u6cd5\u4eba\u793e\u56e3\u798f\u7f8e\u4f1a \u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u7d71\u62ec\u9662\u9577\u30fbLabo 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\"\u307e\u305a\u67d3\u8272\u4f53\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u691c\u67fb\u306721\u756a\u67d3\u8272\u4f53\u306e\u5fae\u7d30\u6b20\u5931\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002\u8a3a\u65ad\u304c\u3064\u304b\u306a\u3044\u5834\u5408\u306f\u3001\u77e5\u7684\u969c\u5bb3\u907a\u4f1d\u5b50\u30d1\u30cd\u30eb\u3084\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\uff08WES\uff09\u3067DYRK1A\u907a\u4f1d\u5b50\u5185\u306e\u70b9\u5909\u7570\u3092\u8abf\u3079\u307e\u3059\u3002\"\n      }\n    },\n    {\n      \"@type\": \"Question\",\n      \"name\": \"\u598a\u5a20\u4e2d\u306eNIPT\u3067\u3053\u306e\u75c5\u6c17\u306f\u308f\u304b\u308a\u307e\u3059\u304b\u3002\",\n      \"acceptedAnswer\": {\n        \"@type\": \"Answer\",\n        \"text\": \"21\u30fb18\u30fb13\u30c8\u30ea\u30bd\u30df\u30fc\u306a\u3069\u306e\u57fa\u672c\u691c\u67fb\u306e\u5bfe\u8c61\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u3084\u5fae\u5c0f\u6b20\u5931\u307e\u3067\u5bfe\u8c61\u3092\u5e83\u3052\u305f\u62e1\u5927NIPT\u306e\u30d7\u30e9\u30f3\u3067\u306f\u5bfe\u8c61\u306b\u542b\u307e\u308c\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u5bfe\u5fdc\u7bc4\u56f2\u306f\u65bd\u8a2d\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u307e\u3059\u3002\u967d\u6027\u6240\u898b\u304c\u51fa\u305f\u5834\u5408\u306f\u7f8a\u6c34\u691c\u67fb\u306a\u3069\u306e\u78ba\u5b9a\u691c\u67fb\u304c\u5fc5\u8981\u3067\u3059\u3002\"\n      }\n    }\n  ]\n}\n<\/script>\n\n\n<p style=\"font-size:0.85em;color:#777;\">\u53c2\u8003\u60c5\u5831\uff1a<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK333438\/\" target=\"_blank\" rel=\"noopener\">DYRK1A Syndrome\uff5cGeneReviews\uff08NCBI Bookshelf\uff09<\/a>\uff0f<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/13527\/dyrk1a-related-intellectual-disability-syndrome\" target=\"_blank\" rel=\"noopener\">DYRK1A-related intellectual disability syndrome\uff5cGARD\uff08\u7c73\u56fd\u56fd\u7acb\u885b\u751f\u7814\u7a76\u6240\uff09<\/a>\uff0f<a href=\"https:\/\/www.orpha.net\/en\/disease\/detail\/268261\" target=\"_blank\" rel=\"noopener\">DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion\uff5cOrphanet<\/a>\uff0f<a href=\"https:\/\/www.cma-search.jp\/disease-info-pro\/disease-info-pro52\/\" target=\"_blank\" rel=\"noopener\">DYRK1A\u95a2\u9023\u75c7\u5019\u7fa4\uff0821q22.1\u6b20\u5931\u75c7\u5019\u7fa4\uff09\uff5c\u6771\u4eac\u5973\u5b50\u533b\u79d1\u5927\u5b66\u30b2\u30ce\u30e0\u8a3a\u7642\u79d1<\/a>\uff0f<a href=\"https:\/\/www.jshg.jp\/about\/license\/\" target=\"_blank\" rel=\"noopener\">\u8cc7\u683c\u8a8d\u5b9a\uff08\u81e8\u5e8a\u907a\u4f1d\u5c02\u9580\u533b\u30fb\u8a8d\u5b9a\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\uff09\uff5c\u65e5\u672c\u4eba\u985e\u907a\u4f1d\u5b66\u4f1a<\/a><\/p>\n\n","protected":false},"excerpt":{"rendered":"DYRK1A\u75c7\u5019\u7fa4\u306e\u539f\u56e0\u30fb\u75c7\u72b6\u306e\u983b\u5ea6\u30c7\u30fc\u30bf\u30fb\u9451\u5225\u8a3a\u65ad\u30fb\u907a\u4f1d\u306e\u4ed5\u7d44\u307f\u3092\u516c\u7684\u60c5\u5831\u306b\u57fa\u3065\u304d\u89e3\u8aac\u3002\u598a\u5a20\u4e2d\u306e\u691c\u67fb\u3068\u306e\u95a2\u4fc2\u3082\u6574\u7406\u3057\u307e\u3059\u3002","protected":false},"author":122,"featured_media":116722,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[1392],"tags":[],"class_list":["post-122518","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\/122518","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=122518"}],"version-history":[{"count":3,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/122518\/revisions"}],"predecessor-version":[{"id":134428,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/122518\/revisions\/134428"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/116722"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=122518"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=122518"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=122518"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}