{"id":83521,"date":"2024-11-14T14:23:39","date_gmt":"2024-11-14T05:23:39","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=83521"},"modified":"2026-03-04T13:04:13","modified_gmt":"2026-03-04T04:04:13","slug":"8p23-1-deletion-syndrome","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/8p23-1-deletion-syndrome\/","title":{"rendered":"8p23.1\u6b20\u5931\u75c7\u5019\u7fa4"},"content":{"rendered":"\n<div style=\"border:solid #ffe6e6 0.8rem;background-color: #fff9f9;padding:3% 5%;margin:1rem 0 3rem;\"><h2 style=\"margin-top:1rem;\">\u3053\u306e\u8a18\u4e8b\u306e\u307e\u3068\u3081<\/h2><p>\u672c\u8a18\u4e8b\u3067\u306f\u30018p23.1\u9818\u57df\u306b\u95a2\u9023\u3059\u308b\u7a00\u5c11\u75be\u60a3\u3067\u3042\u308b\u5bb6\u65cf\u6027\u82e5\u5e74\u7cd6\u5c3f\u75c5\uff08MODY\uff09\u3001\u5148\u5929\u6027\u6a2a\u9694\u819c\u30d8\u30eb\u30cb\u30a2\uff08CDH\uff09\u3001\u30b9\u30af\u30a2\u30ec\u30f3\u5408\u6210\u9175\u7d20\u6b20\u640d\u75c7\uff08SQSD\uff09\u306b\u3064\u3044\u3066\u89e3\u8aac\u3057\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u75be\u60a3\u306b\u95a2\u4e0e\u3059\u308b\u907a\u4f1d\u5b50BLK\u3001GATA4\u3001FDFT1\u306e\u5f79\u5272\u3084\u75c7\u72b6\u3001\u8a3a\u65ad\u6cd5\u3001\u7ba1\u7406\u306e\u91cd\u8981\u6027\u3092\u308f\u304b\u308a\u3084\u3059\u304f\u8aac\u660e\u3057\u307e\u3059\u3002<\/p><\/div>\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 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/8p23-1-deletion-syndrome\/#%EF%BC%91_BLK%E3%80%80%E5%AE%B6%E6%97%8F%E6%80%A7%E8%8B%A5%E5%B9%B4%E7%B3%96%E5%B0%BF%E7%97%85%EF%BC%88Maturity-Onset_Diabetes_of_the_Young%EF%BC%89\" >[\uff11_BLK]\u3000\u5bb6\u65cf\u6027\u82e5\u5e74\u7cd6\u5c3f\u75c5\uff08Maturity-Onset Diabetes of the Young\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/8p23-1-deletion-syndrome\/#%EF%BC%92_GATA4%E3%80%80%E5%85%88%E5%A4%A9%E6%80%A7%E6%A8%AA%E9%9A%94%E8%86%9C%E3%81%B8%E3%83%AB%E3%83%8B%E3%82%A2%EF%BC%88Congenital_Diaphragmatic_Hernia%EF%BC%89\" >[\uff12_GATA4]\u3000\u5148\u5929\u6027\u6a2a\u9694\u819c\u3078\u30eb\u30cb\u30a2\uff08Congenital Diaphragmatic Hernia\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/8p23-1-deletion-syndrome\/#%EF%BC%93_FDFT1%E3%80%80%E3%82%B9%E3%82%AF%E3%82%A2%E3%83%AC%E3%83%B3%E5%90%88%E6%88%90%E9%85%B5%E7%B4%A0%E6%AC%A0%E6%90%8D%E7%97%87%EF%BC%88Squalene_Synthase_Deficiency%EF%BC%89\" >[\uff13_FDFT1]\u3000\u30b9\u30af\u30a2\u30ec\u30f3\u5408\u6210\u9175\u7d20\u6b20\u640d\u75c7\uff08Squalene Synthase Deficiency\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/8p23-1-deletion-syndrome\/#%E5%BC%95%E7%94%A8%E6%96%87%E7%8C%AE\" >\u5f15\u7528\u6587\u732e<\/a><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%93%E3%81%AE%E9%81%BA%E4%BC%9D%E5%AD%90%E5%BA%A7%E3%81%AB%E3%81%82%E3%82%8B%E7%96%BE%E6%82%A3%E3%81%AB%E9%96%A2%E4%B8%8E%E3%81%99%E3%82%8B%E5%8F%AF%E8%83%BD%E6%80%A7%E3%81%8C%E9%AB%98%E3%81%84%E9%81%BA%E4%BC%9D%E5%AD%90\"><\/span>\u3053\u306e\u907a\u4f1d\u5b50\u5ea7\u306b\u3042\u308b\u75be\u60a3\u306b\u95a2\u4e0e\u3059\u308b\u53ef\u80fd\u6027\u304c\u9ad8\u3044\u907a\u4f1d\u5b50<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"20\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/1a10af4ded232ea8e2cfb45ed01991bf-1024x20.png\" alt=\"8p23.1\u3000\" class=\"wp-image-90706\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<figure class=\"wp-block-table\"><table><tbody><tr><td class=\"has-text-align-center\" data-align=\"center\"><strong>S\/N<\/strong><\/td><td class=\"has-text-align-center\" data-align=\"center\"><strong>\u907a\u4f1d\u5b50\u540d<\/strong><\/td><td class=\"has-text-align-center\" data-align=\"center\"><strong>\u95a2\u9023\u3059\u308b\u75be\u60a3\u540d<\/strong><\/td><td class=\"has-text-align-center\" data-align=\"center\"><strong>Associated disease name<\/strong><\/td><\/tr><tr><td class=\"has-text-align-center\" data-align=\"center\">\uff11<\/td><td class=\"has-text-align-center\" data-align=\"center\">BLK<\/td><td class=\"has-text-align-center\" data-align=\"center\">\u5bb6\u65cf\u6027\u82e5\u5e74\u7cd6\u5c3f\u75c5<\/td><td class=\"has-text-align-center\" data-align=\"center\">Maturity-Onset Diabetes of the Young<\/td><\/tr><tr><td class=\"has-text-align-center\" data-align=\"center\">\uff12<\/td><td class=\"has-text-align-center\" data-align=\"center\">GATA4<\/td><td class=\"has-text-align-center\" data-align=\"center\">\u5148\u5929\u6027\u6a2a\u9694\u819c\u3078\u30eb\u30cb\u30a2<\/td><td class=\"has-text-align-center\" data-align=\"center\">Congenital Diaphragmatic Hernia<\/td><\/tr><tr><td class=\"has-text-align-center\" data-align=\"center\">\uff13<\/td><td class=\"has-text-align-center\" data-align=\"center\">FDFT1<\/td><td class=\"has-text-align-center\" data-align=\"center\">\u30b9\u30af\u30a2\u30ec\u30f3\u5408\u6210\u9175\u7d20\u6b20\u640d\u75c7<\/td><td class=\"has-text-align-center\" data-align=\"center\">Squalene Synthase Deficiency<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"937\" height=\"500\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/chromo8-MeGeQbFLKdNAAAFRJQAAADdS.png\" alt=\"chromo8 \" class=\"wp-image-90710\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%EF%BC%91_BLK%E3%80%80%E5%AE%B6%E6%97%8F%E6%80%A7%E8%8B%A5%E5%B9%B4%E7%B3%96%E5%B0%BF%E7%97%85%EF%BC%88Maturity-Onset_Diabetes_of_the_Young%EF%BC%89\"><\/span>[\uff11_BLK]\u3000\u5bb6\u65cf\u6027\u82e5\u5e74\u7cd6\u5c3f\u75c5\uff08Maturity-Onset Diabetes of the Young\uff09<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"20\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/1a10af4ded232ea8e2cfb45ed01991bf-1024x20.png\" alt=\"8p23.1\u3000\" class=\"wp-image-90706\"\/><\/figure><\/div>\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"20\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/BLK-hgtIdeo_genome_25b92_deb420-1024x20.png\" alt=\"BLK \" class=\"wp-image-90717\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>Maturity-onset diabetes of the young (MODY)\u306f\u3001\u907a\u4f1d\u7684\u8981\u56e0\u306b\u3088\u308b\u975e\u81ea\u5df1\u514d\u75ab\u6027\u306e\u7cd6\u5c3f\u75c5\u306e\u4e00\u7fa4\u3067\u3042\u308a\u3001\u901a\u5e38\u3001\u601d\u6625\u671f\u3084\u82e5\u5e74\u6210\u4eba\u671f\u306b\u767a\u75c7\u3057\u307e\u3059\u3002BLK\u907a\u4f1d\u5b50\uff08\u67d3\u8272\u4f53\u9818\u57df8p23.1\u306b\u4f4d\u7f6e\uff09\u306b\u8d77\u56e0\u3059\u308bMODY\u306f\u3001\u7279\u306bMODY11\u3068\u547c\u3070\u308c\u3001\u5168MODY\u75c7\u4f8b\u306e1%\u672a\u6e80\u3092\u5360\u3081\u308b\u6975\u3081\u3066\u7a00\u306a\u30bf\u30a4\u30d7\u3067\u3059\u3002\u3053\u306e\u30bf\u30a4\u30d7\u306eMODY\u3067\u306f\u3001\u30a4\u30f3\u30b9\u30ea\u30f3\u5206\u6ccc\u306e\u7570\u5e38\u304c\u75c5\u614b\u751f\u7406\u306e\u4e3b\u8981\u56e0\u3068\u306a\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>MODY\u306f\u4e3b\u306b35\u6b73\u672a\u6e80\u3067\u767a\u75c7\u3057\u30011\u578b\u7cd6\u5c3f\u75c5\u30842\u578b\u7cd6\u5c3f\u75c5\u3068\u7570\u306a\u308b\u7279\u5fb4\u3092\u6301\u3061\u307e\u3059\u30021\u578b\u7cd6\u5c3f\u75c5\u3067\u306f\u81b5\u5cf6\u7d30\u80de\u306b\u5bfe\u3059\u308b\u81ea\u5df1\u6297\u4f53\u304c\u898b\u3089\u308c\u308b\u4e00\u65b9\u3067\u3001MODY\u3067\u306f\u3053\u308c\u3089\u306e\u6297\u4f53\u304c\u898b\u3089\u308c\u306a\u3044\u3053\u3068\u304c\u7279\u5fb4\u3067\u3059\u3002\u307e\u305f\u3001\u767a\u75c7\u304b\u3089\u6570\u5e74\u5f8c\uff08\u4e00\u822c\u7684\u306b\u300c\u30cf\u30cd\u30e0\u30fc\u30f3\u671f\u300d\u3092\u904e\u304e\u305f\u5f8c\uff09\u306b\u3082\u5185\u56e0\u6027\u306e\u30a4\u30f3\u30b9\u30ea\u30f3\u5206\u6ccc\u304c\u6301\u7d9a\u3057\u3066\u3044\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002\u3055\u3089\u306b\u3001MODY\u3067\u306f\u4f4e\u7528\u91cf\u306e\u30a4\u30f3\u30b9\u30ea\u30f3\u6cbb\u7642\uff080.5 U\/kg\/\u65e5\u672a\u6e80\uff09\u3067\u8840\u7cd6\u5024\u3092\u7ba1\u7406\u3067\u304d\u308b\u30b1\u30fc\u30b9\u304c\u591a\u304f\u3001\u30a4\u30f3\u30b9\u30ea\u30f3\u306e\u4e2d\u65ad\u6642\u306b\u3082\u30b1\u30c8\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u304c\u767a\u751f\u3057\u306b\u304f\u3044\u3068\u3044\u3046\u70b9\u3082\u91cd\u8981\u306a\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"430\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/24326790_s.jpg\" alt=\"\u671d\u306e\u8840\u7cd6\u5024\" class=\"wp-image-90722\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>MODY\u30682\u578b\u7cd6\u5c3f\u75c5\u3092\u533a\u5225\u3059\u308b\u305f\u3081\u306b\u306f\u3001\u80a5\u6e80\u3084\u30a2\u30ab\u30f3\u30c8\u30fc\u30b7\u30b9\u30fb\u30cb\u30b0\u30ea\u30ab\u30f3\u30b9\uff08\u9ed2\u8272\u8868\u76ae\u816b\uff09\u306a\u3069\u304c\u898b\u3089\u308c\u306a\u3044\u3053\u3068\u3001\u307e\u305f\u4e2d\u6027\u8102\u80aa\u5024\u304c\u6b63\u5e38\u3067\u3042\u308b\u304b\u3001HDL\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\uff08\u5584\u7389\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\uff09\u304c\u6b63\u5e38\u3082\u3057\u304f\u306f\u4e0a\u6607\u3057\u3066\u3044\u308b\u3053\u3068\u304c\u53c2\u8003\u306b\u306a\u308a\u307e\u3059\u3002\u3055\u3089\u306b\u3001MODY\u306e\u60a3\u8005\u3067\u306f\u5b89\u5b9a\u3057\u305f\u7a7a\u8179\u6642\u9ad8\u8840\u7cd6\u304c\u898b\u3089\u308c\u308b\u3082\u306e\u306e\u3001\u85ac\u7406\u5b66\u7684\u6cbb\u7642\u306b\u306f\u3042\u307e\u308a\u53cd\u5fdc\u3057\u306a\u3044\u5834\u5408\u304c\u591a\u3044\u3067\u3059\u3002\u307e\u305f\u3001\u30b9\u30eb\u30db\u30cb\u30eb\u5c3f\u7d20\u85ac\u3078\u306e\u6975\u5ea6\u306e\u611f\u53d7\u6027\u3092\u793a\u3059\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u907a\u4f1d\u7684\u8981\u56e0\u306e\u8a3a\u65ad\u306f\u3001\u5bb6\u65cf\u6b74\u3084\u81e8\u5e8a\u7684\u7279\u5fb4\u304b\u3089\u7591\u308f\u308c\u308b\u5834\u5408\u306b\u3001\u5206\u5b50\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u3092\u7528\u3044\u3066\u884c\u308f\u308c\u307e\u3059\u3002\u5bb6\u65cf\u6b74\u3067\u306f\u3001\u7cd6\u5c3f\u75c5\u306e\u767a\u75c7\u5e74\u9f62\uff08\u901a\u5e3835\u6b73\u672a\u6e80\uff09\u3084\u3001\u80a5\u6e80\u306e\u6709\u7121\u304c\u91cd\u8981\u306a\u60c5\u5831\u3068\u306a\u308a\u307e\u3059\u3002MODY\u306f\u5e38\u67d3\u8272\u4f53\u512a\u6027\u907a\u4f1d\u3092\u793a\u3057\u3001\u5bb6\u7cfb\u5185\u3067\u306e\u767a\u75c7\u30d1\u30bf\u30fc\u30f3\u304c\u4ed6\u306e\u7cd6\u5c3f\u75c5\u3068\u306f\u7570\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u305f\u3068\u3048\u3070\u30011\u578b\u7cd6\u5c3f\u75c5\u306f\u5bb6\u65cf\u5185\u3067\u6563\u767a\u7684\u306b\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u306e\u306b\u5bfe\u3057\u30012\u578b\u7cd6\u5c3f\u75c5\u306f\u907a\u4f1d\u7684\u8981\u56e0\u3068\u74b0\u5883\u8981\u56e0\u306e\u5171\u6709\u306b\u3088\u308a\u8907\u6570\u306e\u5bb6\u65cf\u30e1\u30f3\u30d0\u30fc\u306b\u767a\u75c7\u3059\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"360\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/24906322_s.jpg\" alt=\"\u7cd6\u8cea\u5236\u9650\" class=\"wp-image-90725\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u73fe\u5728\u3001MODY\u3092\u5f15\u304d\u8d77\u3053\u3059\u907a\u4f1d\u5b50\u3068\u3057\u3066\u5c11\u306a\u304f\u3068\u308214\u7a2e\u985e\u304c\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001\u305d\u306e\u4e2d\u3067\u3082GCK\u907a\u4f1d\u5b50\uff08MODY2\uff09\u3084HNF1A\u907a\u4f1d\u5b50\uff08MODY3\uff09\u304c\u6700\u3082\u4e00\u822c\u7684\u3067\u3001\u305d\u308c\u305e\u308c\u5168MODY\u75c7\u4f8b\u306e30\u301c60%\u3092\u5360\u3081\u307e\u3059\u3002BLK\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u8d77\u56e0\u3059\u308bMODY11\u306f\u6975\u3081\u3066\u7a00\u3067\u3059\u304c\u3001\u80a5\u6e80\u304c\u81e8\u5e8a\u7684\u7279\u5fb4\u3068\u3057\u3066\u73fe\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u3053\u306e\u3088\u3046\u306a\u7a00\u306a\u30bf\u30a4\u30d7\u306eMODY\u306e\u8a3a\u65ad\u306b\u306f\u3001\u75c7\u72b6\u3084\u5bb6\u65cf\u6b74\u3001\u5b9f\u9a13\u5ba4\u691c\u67fb\u306b\u57fa\u3065\u3044\u305f\u591a\u9762\u7684\u306a\u30a2\u30d7\u30ed\u30fc\u30c1\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p>MODY\u306e\u8a3a\u65ad\u3068\u907a\u4f1d\u7684\u539f\u56e0\u306e\u7279\u5b9a\u306f\u3001\u60a3\u8005\u81ea\u8eab\u306e\u6cbb\u7642\u65b9\u91dd\u3092\u6700\u9069\u5316\u3059\u308b\u3060\u3051\u3067\u306a\u304f\u3001\u5bb6\u65cf\u30e1\u30f3\u30d0\u30fc\u3078\u306e\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3084\u5c06\u6765\u767a\u75c7\u30ea\u30b9\u30af\u306e\u3042\u308b\u5bb6\u65cf\u306e\u533b\u7642\u7684\u76e3\u8996\u306b\u3082\u5f79\u7acb\u3061\u307e\u3059\u3002\u305f\u3068\u3048\u3070\u3001BLK\u907a\u4f1d\u5b50\u95a2\u9023\u306eMODY11\u3067\u306f\u3001\u81e8\u5e8a\u7684\u306b\u78ba\u5b9a\u8a3a\u65ad\u3092\u884c\u3046\u305f\u3081\u306b\u3001\u533b\u5b66\u7684\u306a\u8a73\u7d30\u306a\u75c5\u6b74\u30013\u4e16\u4ee3\u306b\u308f\u305f\u308b\u5bb6\u65cf\u6b74\u3001\u8eab\u4f53\u691c\u67fb\u3001\u305d\u3057\u3066\u5206\u5b50\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u6700\u5f8c\u306b\u3001BLK\u907a\u4f1d\u5b50\u95a2\u9023MODY\u306f\u75c5\u614b\u751f\u7406\u5b66\u7684\u306b\u30a4\u30f3\u30b9\u30ea\u30f3\u5206\u6ccc\u306e\u6b20\u9665\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002\u3053\u306e\u305f\u3081\u3001\u7cd6\u5c3f\u75c5\u306e\u6b63\u78ba\u306a\u907a\u4f1d\u7684\u80cc\u666f\u3092\u628a\u63e1\u3059\u308b\u3053\u3068\u306f\u3001\u9069\u5207\u306a\u6cbb\u7642\u6cd5\u306e\u9078\u629e\u306b\u304a\u3044\u3066\u4e0d\u53ef\u6b20\u3067\u3042\u308a\u3001\u7279\u306b\u7a00\u5c11\u306aMODY\u30bf\u30a4\u30d7\u306e\u60a3\u8005\u306b\u3068\u3063\u3066\u91cd\u8981\u306a\u610f\u5473\u3092\u6301\u3061\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n    <a href=\"\/nipt\/8q12-microduplication-syndrome\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">8q12\u5fae\u5c0f\u91cd\u8907\u75c7\u5019\u7fa4 <\/div>\n          <div class=\"blog-card-excerpt\">8q12\u5fae\u5c0f\u91cd\u8907\u75c7\u5019\u7fa4\u306e\u539f\u56e0\u3001\u4e3b\u306a\u75c7\u72b6\u3001\u6cbb\u7642\u6cd5\u3001\u4e88\u5f8c\u3001\u305d\u3057\u3066\u5bb6\u65cf\u304c\u5229\u7528\u3067\u304d\u308b\u652f\u63f4\u65b9\u6cd5\u306b\u3064\u3044\u3066\u89e3\u8aac\u3057\u307e\u3059\u3002\u9069\u5207\u306a\u7642\u80b2\u3068\u533b\u7642\u7ba1\u7406\u3067\u751f\u6d3b\u306e\u8cea\u3092\u5411\u4e0a...<\/div>\n      <\/div>\n    <\/a>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u598a\u5a20\u4e2d\u306e\u30ea\u30b9\u30af\u7ba1\u7406\u306b<br \/>\nNIPT\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p>&nbsp;<\/p>\n<\/div>\n<\/div>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%EF%BC%92_GATA4%E3%80%80%E5%85%88%E5%A4%A9%E6%80%A7%E6%A8%AA%E9%9A%94%E8%86%9C%E3%81%B8%E3%83%AB%E3%83%8B%E3%82%A2%EF%BC%88Congenital_Diaphragmatic_Hernia%EF%BC%89\"><\/span>[\uff12_GATA4]\u3000\u5148\u5929\u6027\u6a2a\u9694\u819c\u3078\u30eb\u30cb\u30a2\uff08Congenital Diaphragmatic Hernia\uff09<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"20\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/1a10af4ded232ea8e2cfb45ed01991bf-1024x20.png\" alt=\"8p23.1\u3000\" class=\"wp-image-90706\"\/><\/figure><\/div>\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"20\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/0202096c5934a6454cf1663b439832f4-1024x20.png\" alt=\"GATA4\u3000\" class=\"wp-image-90728\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u5148\u5929\u6027\u6a2a\u9694\u819c\u30d8\u30eb\u30cb\u30a2\uff08CDH\uff09\u306f\u3001\u5358\u72ec\u3067\u767a\u751f\u3059\u308b\u5834\u5408\u3082\u3042\u308c\u3070\u3001\u4ed6\u306e\u5148\u5929\u7570\u5e38\u3068\u7d44\u307f\u5408\u308f\u305b\u3066\u767a\u751f\u3059\u308b\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002CDH\u306e\u539f\u56e0\u306f\u591a\u5c90\u306b\u308f\u305f\u308a\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosomal-abnormality\/\">\u67d3\u8272\u4f53\u7570\u5e38<\/a>\u3084\u30b3\u30d4\u30fc\u6570\u5909\u7570\uff08CNV\uff09\u304c\u591a\u304f\u306e\u30b1\u30fc\u30b9\u3067\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u3066\u3044\u307e\u3059\u304c\u3001\u3053\u308c\u307e\u3067\u306b\u30d2\u30c8\u306eCDH\u306b\u660e\u78ba\u306b\u95a2\u9023\u4ed8\u3051\u3089\u308c\u305f\u5358\u4e00\u907a\u4f1d\u5b50\u306f\u5c11\u6570\u3067\u3059\u3002\u672c\u7a3f\u3067\u306f\u3001GATA4\u907a\u4f1d\u5b50\uff088p23.1\u9818\u57df\u306b\u4f4d\u7f6e\uff09\u306e\u5909\u7570\u304cCDH\u306e\u75c5\u614b\u5f62\u6210\u306b\u95a2\u4e0e\u3059\u308b\u53ef\u80fd\u6027\u306b\u3064\u3044\u3066\u89e3\u8aac\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>CDH\u306f\u3001\u51fa\u751f\u6642\u306b\u91cd\u5ea6\u306e\u547c\u5438\u56f0\u96e3\u3068\u3057\u3066\u73fe\u308c\u308b\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\u3059\u3002\u3053\u308c\u306f\u3001\u80f8\u8154\u5185\u3078\u306e\u81d3\u5668\u306e\u79fb\u52d5\u306b\u3088\u308a\u3001\u80ba\u306e\u767a\u80b2\u304c\u59a8\u3052\u3089\u308c\u308b\u3053\u3068\u304c\u4e3b\u56e0\u3067\u3059\u3002\u75c7\u72b6\u306e\u7a0b\u5ea6\u306f\u500b\u3005\u306b\u7570\u306a\u308a\u3001\u4e00\u90e8\u306e\u75c7\u4f8b\u3067\u306f\u65b0\u751f\u5150\u671f\u3092\u8d85\u3048\u3066\u8efd\u5ea6\u306e\u547c\u5438\u5668\u75c7\u72b6\u3084\u6d88\u5316\u5668\u75c7\u72b6\u304c\u73fe\u308c\u308b\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002\u3055\u3089\u306b\u3001\u7121\u75c7\u72b6\u306e\u307e\u307e\u753b\u50cf\u8a3a\u65ad\u3067\u5076\u7136\u767a\u898b\u3055\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"424\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/25350468_s.jpg\" alt=\"\u304f\u307e\u306e\u306c\u3044\u3050\u308b\u307f\" class=\"wp-image-88669\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>CDH\u306b\u306f\u8907\u6570\u306e\u5f62\u614b\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u4ee3\u8868\u7684\u306a\u3082\u306e\u3068\u3057\u3066\u5f8c\u5916\u5074\u578b\uff08Bochdalek\u30d8\u30eb\u30cb\u30a2\uff09\u304c\u6319\u3052\u3089\u308c\u307e\u3059\u3002\u3053\u306e\u30bf\u30a4\u30d7\u306f\u3001\u6a2a\u9694\u819c\u306e\u5f8c\u5916\u5074\u90e8\u5206\u304c\u6b20\u640d\u307e\u305f\u306f\u975e\u5e38\u306b\u8584\u3044\u3053\u3068\u3067\u7279\u5fb4\u3065\u3051\u3089\u308c\u3001\u591a\u304f\u306e\u5834\u5408\u3001\u80c3\u3084\u8178\u3001\u809d\u81d3\u3001\u813e\u81d3\u306a\u3069\u306e\u81d3\u5668\u304c\u80f8\u8154\u5185\u306b\u5165\u308a\u8fbc\u3093\u3067\u3044\u307e\u3059\u3002\u5f8c\u5916\u5074\u578b\u306fCDH\u5168\u4f53\u306e80\uff5e90%\u3092\u5360\u3081\u3001\u305d\u306e85%\u304c\u5de6\u5074\u300110%\u304c\u53f3\u5074\u30015%\u304c\u4e21\u5074\u6027\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u307e\u305f\u3001\u524d\u65b9\u578b\uff08Morgagni\u30d8\u30eb\u30cb\u30a2\uff09\u3084\u4e2d\u592e\u90e8\u6b20\u640d\u578b\u3068\u3044\u3063\u305f\u4ed6\u306e\u7a00\u306a\u30bf\u30a4\u30d7\u3082\u5b58\u5728\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6a2a\u9694\u819c\u306e\u5f62\u6210\u7570\u5e38\u306e\u80cc\u666f\u306b\u306f\u3001\u907a\u4f1d\u7684\u8981\u56e0\u304c\u6df1\u304f\u95a2\u308f\u3063\u3066\u3044\u307e\u3059\u3002\u8fd1\u5e74\u306e\u7814\u7a76\u3067\u306f\u3001GATA4\u907a\u4f1d\u5b50\u306e\u5909\u7570\u304cCDH\u306b\u95a2\u9023\u3057\u3066\u3044\u308b\u3053\u3068\u304c\u793a\u5506\u3055\u308c\u3066\u3044\u307e\u3059\u3002GATA4\u306f\u3001\u7d30\u80de\u306e\u907a\u4f1d\u5b50\u767a\u73fe\u3084\u5206\u5316\u3092\u5236\u5fa1\u3059\u308b\u4e9c\u925b\u30d5\u30a3\u30f3\u30ac\u30fc\u578b\u8ee2\u5199\u56e0\u5b50\u3067\u3001\u6a2a\u9694\u819c\u3084\u80ba\u306e\u767a\u751f\u306b\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u307e\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306f\u3001\u5bb6\u65cf\u6027\u304a\u3088\u3073\u5b64\u767a\u6027\u306eCDH\u306e\u4e21\u65b9\u3067\u78ba\u8a8d\u3055\u308c\u3066\u304a\u308a\u3001\u4e0d\u5b8c\u5168\u306a\u767a\u73fe\u7387\uff08penetrance\uff09\u304c\u7279\u5fb4\u3067\u3059\u3002\u4f8b\u3048\u3070\u3001\u7279\u5b9a\u306e\u5bb6\u65cf\u3067\u767a\u898b\u3055\u308c\u305fGATA4\u306e\u5909\u7570\uff08c.754C&gt;T\u3001p.R252W\uff09\u3067\u306f\u3001\u4e00\u898b\u6b63\u5e38\u306b\u898b\u3048\u308b\u4fdd\u56e0\u8005\u3082MRI\u691c\u67fb\u3067\u8efd\u5ea6\u306e\u6a2a\u9694\u819c\u6b20\u640d\u304c\u8a8d\u3081\u3089\u308c\u307e\u3057\u305f\u3002\u307e\u305f\u3001\u5225\u306e\u5b64\u767a\u6027CDH\u60a3\u8005\u304b\u3089\u306f\u65b0\u751f\u5909\u7570\uff08de novo\uff09\u3067\u3042\u308bGATA4\u306e\u5909\u7570\uff08c.848G&gt;A; p.R283H\uff09\u304c\u767a\u898b\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"480\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/31127225_s.jpg\" alt=\"\u5bdd\u3066\u3044\u308b\u5b50\u4f9b\" class=\"wp-image-88779\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>GATA4\u907a\u4f1d\u5b50\u306e\u5f71\u97ff\u306f\u3001\u52d5\u7269\u30e2\u30c7\u30eb\u3092\u7528\u3044\u305f\u7814\u7a76\u3067\u3082\u660e\u3089\u304b\u306b\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u4f8b\u3048\u3070\u3001GATA4\u306e\u767a\u73fe\u304c\u59a8\u3052\u3089\u308c\u308b\u3068\u3001\u6a2a\u9694\u819c\u3084\u80ba\u306e\u6b20\u9665\u304c\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u3053\u3068\u304c\u78ba\u8a8d\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u4e00\u65b9\u3067\u3001\u30ec\u30c1\u30ce\u30a4\u30f3\u9178\uff08\u30d3\u30bf\u30df\u30f3A\u8a98\u5c0e\u4f53\uff09\u3092\u7528\u3044\u305f\u6cbb\u7642\u304cGATA4\u306e\u767a\u73fe\u3092\u5897\u52a0\u3055\u305b\u3001\u6a2a\u9694\u819c\u3084\u80ba\u306e\u767a\u751f\u7570\u5e38\u3092\u6539\u5584\u3059\u308b\u3053\u3068\u304c\u793a\u5506\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u3088\u3046\u306b\u3001GATA4\u306f\u30ec\u30c1\u30ce\u30a4\u30f3\u9178\u7d4c\u8def\u3068\u3082\u95a2\u9023\u3057\u3066\u304a\u308a\u3001\u6a2a\u9694\u819c\u306e\u767a\u751f\u904e\u7a0b\u306b\u304a\u3051\u308b\u4e2d\u5fc3\u7684\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u3066\u3044\u308b\u3068\u8003\u3048\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u907a\u4f1d\u7684\u8a3a\u65ad\u6280\u8853\u306e\u9032\u6b69\u306b\u3088\u308a\u3001CDH\u306e\u539f\u56e0\u3068\u306a\u308b\u907a\u4f1d\u7684\u5909\u7570\u3092\u7279\u5b9a\u3059\u308b\u80fd\u529b\u304c\u5411\u4e0a\u3057\u3066\u3044\u307e\u3059\u3002\u7279\u306b\u3001\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\uff08WES\uff09\u306f\u3001\u5bb6\u65cf\u6027\u304a\u3088\u3073\u5b64\u767a\u6027CDH\u306b\u304a\u3044\u3066\u7a00\u306a\u907a\u4f1d\u5b50\u5909\u7570\u3092\u7279\u5b9a\u3059\u308b\u305f\u3081\u306e\u6709\u529b\u306a\u624b\u6cd5\u3067\u3059\u3002\u907a\u4f1d\u7684\u80cc\u666f\u3092\u89e3\u660e\u3059\u308b\u3053\u3068\u306f\u3001\u60a3\u8005\u306e\u8a3a\u65ad\u3001\u6cbb\u7642\u3001\u4e88\u5f8c\u306e\u8a55\u4fa1\u306b\u5927\u304d\u304f\u5bc4\u4e0e\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>CDH\u306e\u6cbb\u7642\u306f\u4e3b\u306b\u5916\u79d1\u7684\u4fee\u5fa9\u304c\u4e2d\u5fc3\u3067\u3059\u304c\u3001\u547c\u5438\u5668\u7ba1\u7406\u3084\u6804\u990a\u30b5\u30dd\u30fc\u30c8\u306a\u3069\u306e\u5305\u62ec\u7684\u306a\u30b1\u30a2\u304c\u5fc5\u8981\u3067\u3059\u3002\u9577\u671f\u7684\u306a\u30d5\u30a9\u30ed\u30fc\u30a2\u30c3\u30d7\u3067\u306f\u3001\u767a\u9054\u306e\u9045\u308c\u3084\u8074\u899a\u969c\u5bb3\u3001\u80f8\u90ed\u306e\u5909\u5f62\u306a\u3069\u306e\u5408\u4f75\u75c7\u304c\u307f\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u3053\u308c\u3089\u306b\u5bfe\u5fdc\u3059\u308b\u305f\u3081\u306e\u5c02\u9580\u7684\u306a\u652f\u63f4\u304c\u6c42\u3081\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>CDH\u306f\u5358\u306a\u308b\u89e3\u5256\u5b66\u7684\u6b20\u640d\u3067\u306f\u306a\u304f\u3001\u8907\u96d1\u306a\u907a\u4f1d\u7684\u304a\u3088\u3073\u767a\u751f\u5b66\u7684\u8981\u56e0\u304c\u7d61\u3080\u75be\u60a3\u3067\u3059\u3002\u7279\u306bGATA4\u907a\u4f1d\u5b50\u306e\u7814\u7a76\u306f\u3001\u75c5\u614b\u306e\u7406\u89e3\u3068\u65b0\u3057\u3044\u6cbb\u7642\u6cd5\u306e\u958b\u767a\u306b\u5411\u3051\u305f\u91cd\u8981\u306a\u624b\u304c\u304b\u308a\u3092\u63d0\u4f9b\u3057\u3066\u3044\u307e\u3059\u3002\u4eca\u5f8c\u306e\u7814\u7a76\u306e\u9032\u5c55\u304c\u3001\u3088\u308a\u52b9\u679c\u7684\u306a\u8a3a\u65ad\u6cd5\u3084\u6cbb\u7642\u6cd5\u306e\u78ba\u7acb\u306b\u3064\u306a\u304c\u308b\u3053\u3068\u304c\u671f\u5f85\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n    <a href=\"\/nipt\/nablus-mask-like-facial-syndrome-overview\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u30ca\u30d6\u30eb\u30b9\u4eee\u9762\u69d8\u9854\u75c7\u5019\u7fa4\uff08NMLFS; Nablus mask-like facial syndrome\uff09 <\/div>\n          <div class=\"blog-card-excerpt\">\u30ca\u30d6\u30eb\u30b9\u4eee\u9762\u69d8\u9854\u75c7\u5019\u7fa4\u306f\u3001\u9854\u8c8c\u7570\u5e38\u3084\u767a\u9054\u9045\u6ede\u3092\u4f34\u3046\u975e\u5e38\u306b\u7a00\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002\u6700\u65b0\u306e\u75c7\u4f8b\u30fb\u8a3a\u65ad\u65b9\u6cd5\u30fb\u30b1\u30a2\u4f53\u5236\u3092\u308f\u304b\u308a\u3084\u3059\u304f\u7d39\u4ecb\u3057\u307e\u3059\u3002\uff5c\u30d2\u30ed\u30af...<\/div>\n      <\/div>\n    <\/a>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u598a\u5a20\u4e2d\u306e\u30ea\u30b9\u30af\u7ba1\u7406\u306b<br \/>\nNIPT\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p>&nbsp;<\/p>\n<\/div>\n<\/div>\n\n\n\n<p><\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%EF%BC%93_FDFT1%E3%80%80%E3%82%B9%E3%82%AF%E3%82%A2%E3%83%AC%E3%83%B3%E5%90%88%E6%88%90%E9%85%B5%E7%B4%A0%E6%AC%A0%E6%90%8D%E7%97%87%EF%BC%88Squalene_Synthase_Deficiency%EF%BC%89\"><\/span>[\uff13_FDFT1]\u3000\u30b9\u30af\u30a2\u30ec\u30f3\u5408\u6210\u9175\u7d20\u6b20\u640d\u75c7\uff08Squalene Synthase Deficiency\uff09<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"20\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/1a10af4ded232ea8e2cfb45ed01991bf-1024x20.png\" alt=\"8p23.1\u3000\" class=\"wp-image-90706\"\/><\/figure><\/div>\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"20\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/FDFT1-hgtIdeo_genome_7589e_def210-1024x20.png\" alt=\"FDFT1 \" class=\"wp-image-90732\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u30b9\u30af\u30a2\u30ec\u30f3\u5408\u6210\u9175\u7d20\u6b20\u640d\u75c7\uff08Squalene Synthase Deficiency, SQSD\uff09\u306f\u3001\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u5408\u6210\u904e\u7a0b\u306b\u304a\u3051\u308b\u7a00\u306a\u5148\u5929\u6027\u4ee3\u8b1d\u7570\u5e38\u3067\u3059\u3002\u3053\u306e\u75be\u60a3\u306f\u3001FDFT1\u907a\u4f1d\u5b50\uff088p23.1\u306b\u4f4d\u7f6e\uff09\u306b\u751f\u3058\u305f\u4e8c\u5bfe\u6027\uff08biallelic\uff09\u306e\u75c5\u7684\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002\u4ee5\u4e0b\u306b\u3001\u75be\u60a3\u306e\u6982\u8981\u3092\u5305\u62ec\u7684\u304b\u3064\u5206\u304b\u308a\u3084\u3059\u304f\u8aac\u660e\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u30b9\u30af\u30a2\u30ec\u30f3\u5408\u6210\u9175\u7d20\uff08SS\uff09\u306f\u3001\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u751f\u5408\u6210\u306e\u521d\u671f\u6bb5\u968e\u3092\u62c5\u3046\u9175\u7d20\u3067\u30012\u5206\u5b50\u306e\u30d5\u30a1\u30eb\u30cd\u30b7\u30eb\u4e8c\u30ea\u30f3\u9178\uff08FPP\uff09\u3092\u30b9\u30af\u30a2\u30ec\u30f3\u306b\u5909\u63db\u3059\u308b\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u307e\u3059\u3002\u3053\u306e\u9175\u7d20\u306e\u6a5f\u80fd\u4e0d\u5168\u306f\u3001\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u5408\u6210\u306b\u4e0d\u53ef\u6b20\u306a\u30d7\u30ed\u30bb\u30b9\u3092\u963b\u5bb3\u3057\u3001\u591a\u7cfb\u7d71\u306b\u308f\u305f\u308b\u75c7\u72b6\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"480\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/30231096_s.jpg\" alt=\"\u304b\u3042\u3089\u3052\u3000\u9ad8\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\" class=\"wp-image-90754\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u81e8\u5e8a\u7684\u306b\u306f\u3001\u30b9\u30af\u30a2\u30ec\u30f3\u5408\u6210\u9175\u7d20\u6b20\u640d\u75c7\u306e\u7279\u5fb4\u306f\u3001\u30b9\u30df\u30b9\u30fb\u30ec\u30e0\u30ea\u30fb\u30aa\u30d4\u30c3\u30c4\u75c7\u5019\u7fa4\uff08Smith-Lemli-Opitz syndrome, SLOS\uff09\u306b\u985e\u4f3c\u3057\u305f\u591a\u5f69\u306a\u75c7\u72b6\u3067\u3059\u3002\u5177\u4f53\u7684\u306b\u306f\u3001\u9854\u8c8c\u7570\u5e38\uff08\u72ed\u3044\u984d\u3001\u6241\u5e73\u306a\u9f3b\u6839\u3001\u5f8c\u65b9\u56de\u8ee2\u8033\u306a\u3069\uff09\u3001\u65b0\u751f\u5150\u671f\u306b\u767a\u75c7\u3059\u308b\u5168\u8eab\u6027\u3051\u3044\u308c\u3093\u3001\u8133\u69cb\u9020\u7570\u5e38\uff08\u4f8b\uff1a\u8133\u56de\u5f62\u6210\u7570\u5e38\uff09\u3001\u8996\u899a\u969c\u5bb3\uff08\u8996\u795e\u7d4c\u4f4e\u5f62\u6210\u3001\u76ae\u8cea\u76f2\uff09\u3001\u91cd\u5ea6\u306e\u767a\u9054\u9045\u6ede\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3001\u4e7e\u71e5\u808c\u304a\u3088\u3073\u5149\u7dda\u904e\u654f\u75c7\u3001\u7537\u6027\u306b\u304a\u3051\u308b\u6027\u5668\u7570\u5e38\uff08\u505c\u7559\u7cbe\u5de3\u3001\u5c3f\u9053\u4e0b\u88c2\uff09\u306a\u3069\u304c\u6319\u3052\u3089\u308c\u307e\u3059\u3002\u307e\u305f\u3001\u65b0\u751f\u5150\u3067\u306f\u4f4e\u51fa\u751f\u4f53\u91cd\u3084\u9ec4\u75b8\u3001\u809d\u6a5f\u80fd\u7570\u5e38\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306f\u5c3f\u4ee3\u8b1d\u30d7\u30ed\u30d5\u30a1\u30a4\u30eb\u306b\u3088\u3063\u3066\u8a3a\u65ad\u304c\u53ef\u80fd\u3067\u3059\u3002\u7279\u306b\u3001\u98fd\u548c\u30fb\u4e0d\u98fd\u548c\u306e\u5206\u679d\u9396\u4e8c\u30ab\u30eb\u30dc\u30f3\u9178\u3084\u30d5\u30a1\u30eb\u30cd\u30bd\u30fc\u30eb\u7531\u6765\u306e\u30b0\u30eb\u30af\u30ed\u30f3\u9178\u62b1\u5408\u4f53\u304c\u5897\u52a0\u3059\u308b\u72ec\u7279\u306e\u5c3f\u4e2d\u4ee3\u8b1d\u7269\u304c\u7279\u5fb4\u3067\u3059\u3002\u30ac\u30b9\u30af\u30ed\u30de\u30c8\u30b0\u30e9\u30d5\u30a3\u30fc\u8cea\u91cf\u5206\u6790\uff08GC-MS\uff09\u3084\u6838\u78c1\u6c17\u5171\u9cf4\u5206\u5149\u6cd5\uff08NMRS\uff09\u3067\u3053\u306e\u7279\u7570\u7684\u306a\u30d7\u30ed\u30d5\u30a1\u30a4\u30eb\u3092\u78ba\u8a8d\u3059\u308b\u3053\u3068\u304c\u8a3a\u65ad\u306e\u6307\u6a19\u3068\u306a\u308a\u307e\u3059\u3002\u307e\u305f\u3001\u5206\u5b50\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u306b\u3088\u308aFDFT1\u907a\u4f1d\u5b50\u306e\u75c5\u7684\u5909\u7570\u3092\u540c\u5b9a\u3059\u308b\u3053\u3068\u3082\u78ba\u5b9a\u8a3a\u65ad\u306e\u65b9\u6cd5\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u6cbb\u7642\u6cd5\u306b\u3064\u3044\u3066\u306f\u3001\u73fe\u5728\u3001\u6839\u672c\u7684\u306a\u75be\u60a3\u4fee\u6b63\u7642\u6cd5\u306f\u5b58\u5728\u3057\u307e\u305b\u3093\u3002\u5bfe\u75c7\u7642\u6cd5\u304c\u4e3b\u306a\u6cbb\u7642\u624b\u6bb5\u3068\u306a\u308a\u3001\u3051\u3044\u308c\u3093\u3001\u767a\u9054\u9045\u6ede\u3001\u4fbf\u79d8\u3001\u75d9\u7e2e\u306a\u3069\u5404\u75c7\u72b6\u306b\u5bfe\u3059\u308b\u6a19\u6e96\u7684\u306a\u533b\u7642\u304c\u884c\u308f\u308c\u307e\u3059\u3002\u8996\u899a\u969c\u5bb3\u306b\u306f\u65e9\u671f\u4ecb\u5165\u3001\u6442\u98df\u56f0\u96e3\u306b\u306f\u80c3\u763b\u306e\u8a2d\u7f6e\u304c\u63a8\u5968\u3055\u308c\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002\u307e\u305f\u3001\u7761\u7720\u969c\u5bb3\u304c\u8a8d\u3081\u3089\u308c\u308b\u5834\u5408\u306b\u306f\u3001\u30e1\u30e9\u30c8\u30cb\u30f3\u306e\u8a66\u7528\u304c\u8003\u616e\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/29671411_s.jpg\" alt=\"UV\" class=\"wp-image-90760\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u4e88\u9632\u306e\u89b3\u70b9\u304b\u3089\u306f\u3001\u7d2b\u5916\u7dda\u3084\u65e5\u5149\u66b4\u9732\u3092\u907f\u3051\u308b\u3053\u3068\u304c\u91cd\u8981\u3067\u3059\u3002\u4e7e\u71e5\u808c\u3084\u5149\u7dda\u904e\u654f\u75c7\u306e\u305f\u3081\u300110\u5206\u7a0b\u5ea6\u306e\u65e5\u5149\u66b4\u9732\u3067\u3082\u65e5\u713c\u3051\u304c\u751f\u3058\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306f\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u5f62\u5f0f\u3092\u3068\u308a\u307e\u3059\u3002\u60a3\u8005\u306e\u5144\u5f1f\u59c9\u59b9\u304c\u540c\u75be\u60a3\u3092\u767a\u75c7\u3059\u308b\u78ba\u7387\u306f25\uff05\u3001\u7121\u75c7\u5019\u6027\u4fdd\u56e0\u8005\u3067\u3042\u308b\u78ba\u7387\u306f50\uff05\u3067\u3059\u3002\u5bb6\u65cf\u5185\u3067FDFT1\u75c5\u7684\u5909\u7570\u304c\u7279\u5b9a\u3055\u308c\u3066\u3044\u308b\u5834\u5408\u3001\u4fdd\u56e0\u8005\u691c\u67fb\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u304c\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u81e8\u5e8a\u7814\u7a76\u3067\u306f\u3001FDFT1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u304c\u30b9\u30af\u30a2\u30ec\u30f3\u5408\u6210\u9175\u7d20\u6d3b\u6027\u3092\u4f4e\u4e0b\u3055\u305b\u308b\u3053\u3068\u304c\u78ba\u8a8d\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u306b\u3088\u308a\u3001\u30d5\u30a1\u30eb\u30cd\u30b7\u30eb\u4e8c\u30ea\u30f3\u9178\u304c\u904e\u5270\u306b\u84c4\u7a4d\u3057\u3001\u305d\u306e\u4ee3\u8b1d\u7269\u304c\u8907\u96d1\u306a\u4ee3\u8b1d\u7d4c\u8def\u3092\u5f15\u304d\u8d77\u3053\u3057\u3001\u7d30\u80de\u6210\u9577\u306e\u6291\u5236\u3084\u30a2\u30dd\u30c8\u30fc\u30b7\u30b9\u306e\u8a98\u5c0e\u3092\u542b\u3080\u591a\u69d8\u306a\u751f\u7269\u6d3b\u6027\u3092\u793a\u3057\u307e\u3059\u3002\u3053\u306e\u75be\u60a3\u306e\u7814\u7a76\u306f\u3001\u80da\u5f62\u6210\u3084\u5668\u5b98\u5f62\u6210\u306b\u304a\u3051\u308b\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u306e\u91cd\u8981\u6027\u3092\u6539\u3081\u3066\u5f37\u8abf\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u73fe\u5728\u307e\u3067\u306b\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u60a3\u8005\u306f\u9650\u3089\u308c\u3066\u304a\u308a\u3001\u305d\u306e\u591a\u304f\u304c\u30e8\u30fc\u30ed\u30c3\u30d1\u7cfb\u306e\u5bb6\u7cfb\u304b\u3089\u7279\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u30b9\u30af\u30a2\u30ec\u30f3\u5408\u6210\u9175\u7d20\u6b20\u640d\u75c7\u306f\u3001\u81e8\u5e8a\u7684\u7279\u5fb4\u3001\u4ee3\u8b1d\u7269\u30d7\u30ed\u30d5\u30a1\u30a4\u30eb\u3001\u907a\u4f1d\u5b50\u89e3\u6790\u3092\u7d44\u307f\u5408\u308f\u305b\u308b\u3053\u3068\u3067\u8a3a\u65ad\u3055\u308c\u308b\u7a00\u5c11\u75be\u60a3\u3067\u3059\u304c\u3001\u9069\u5207\u306a\u6cbb\u7642\u3068\u30b5\u30dd\u30fc\u30c8\u306b\u3088\u3063\u3066\u60a3\u8005\u3068\u5bb6\u65cf\u306e\u751f\u6d3b\u306e\u8cea\u3092\u5411\u4e0a\u3055\u305b\u308b\u3053\u3068\u304c\u671f\u5f85\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u598a\u5a20\u4e2d\u306e\u30ea\u30b9\u30af\u7ba1\u7406\u306b<br \/>\nNIPT\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p>&nbsp;<\/p>\n<\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%BC%95%E7%94%A8%E6%96%87%E7%8C%AE\"><\/span>\u5f15\u7528\u6587\u732e<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/24156031_s.jpg\" alt=\"\u5b50\u3069\u3082\u3092\u611b\u3055\u306a\u3044\u3068\" class=\"wp-image-87708\"\/><\/figure><\/div>\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.ajhg.2018.05.004\">Coman, D., Vissers, L. E. L. M., Riley, L. G., Kwint, M. P., Hauck, R., Koster, J., Geuer, S., Hopkins, S., Hallinan, B., Sweetman, L., Engelke, U. F. H., Burrow, T. A., Cardinal, J., McGill, J., Inwood, A., Gurnsey, C., Waterham, H. R., Christodoulou, J., Wevers, R. A., &amp; Pitt, J. (2018). Squalene synthase deficiency: Clinical, biochemical, and molecular characterization of a defect in cholesterol biosynthesis. <em>The American Journal of Human Genetics<\/em>, <em>103<\/em>(1), 125\u2013130. https:\/\/doi.org\/10.1016\/j.ajhg.2018.05.004<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK553533\/\">Coman D, Vissers L, Waterham H, et al. Squalene Synthase Deficiency. 2020 Feb 6. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK553533\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1007\/s00439-012-1249-0\">Yu, L., Wynn, J., Cheung, Y. H., Shen, Y., Mychaliska, G. B., Crombleholme, T. M., Azarow, K. S., Lim, F. Y., Chung, D. H., Potoka, D., Warner, B. W., Bucher, B., Stolar, C., Aspelund, G., Arkovitz, M. S., &amp; Chung, W. K. (2013). Variants in GATA4 are a rare cause of familial and sporadic congenital diaphragmatic hernia. <em>Human genetics<\/em>, <em>132<\/em>(3), 285\u2013292. https:\/\/doi.org\/10.1007\/s00439-012-1249-0<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1359\/\">Longoni M, Pober BR, High FA. Congenital Diaphragmatic Hernia Overview. 2006 Feb 1 [Updated 2020 Nov 5]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. 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