{"id":83605,"date":"2024-11-15T15:58:55","date_gmt":"2024-11-15T06:58:55","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=83605"},"modified":"2025-08-25T12:50:22","modified_gmt":"2025-08-25T03:50:22","slug":"17p13-3-deletion-syndrome-miller-dieker-syndrome-miller-dieker-lissencephaly-syndrome-mdls-loss","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/17p13-3-deletion-syndrome-miller-dieker-syndrome-miller-dieker-lissencephaly-syndrome-mdls-loss\/","title":{"rendered":"17p13.3 \u6b20\u5931\u75c7\u5019\u7fa4 (Miller-Dieker \u75c7\u5019\u7fa4) \/ Miller-Dieker \u6ed1\u8133\u75c7\u5019\u7fa4 (MDLS)"},"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>\u30df\u30e9\u30fc\u30fb\u30c7\u30a3\u30fc\u30ab\u30fc\u75c7\u5019\u7fa4\uff08MDS\uff09\u306f\u300117\u756a\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u6b20\u5931\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u975e\u5e38\u306b\u7a00\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002\u6ed1\u8133\u75c7\u3084\u7279\u5fb4\u7684\u306a\u9854\u7acb\u3061\u3001\u767a\u9054\u9045\u5ef6\u3092\u4f34\u3044\u3001\u60a3\u8005\u3084\u305d\u306e\u5bb6\u65cf\u306b\u591a\u304f\u306e\u8ab2\u984c\u3092\u3082\u305f\u3089\u3057\u307e\u3059\u3002\u672c\u8a18\u4e8b\u3067\u306f\u3001\u75be\u60a3\u306e\u6982\u8981\u3001\u8a3a\u65ad\u3068\u7ba1\u7406\u306e\u65b9\u6cd5\u3001\u305d\u3057\u3066\u4e88\u5f8c\u306b\u3064\u3044\u3066\u8a73\u3057\u304f\u89e3\u8aac\u3057\u3066\u3044\u307e\u3059\u3002MDS\u306b\u95a2\u3059\u308b\u77e5\u8b58\u3092\u6df1\u3081\u3001\u65e9\u671f\u8a3a\u65ad\u3068\u9069\u5207\u306a\u30b1\u30a2\u306e\u91cd\u8981\u6027\u306b\u3064\u3044\u3066\u7406\u89e3\u3092\u6df1\u3081\u3066\u304f\u3060\u3055\u3044\u3002<\/p><\/div>\n\n\n\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_82_2 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">\u76ee\u6b21<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" height=\"10px\" viewBox=\"0 0 24 24\" version=\"1.2\" baseProfile=\"tiny\"><path d=\"M18.2 9.3l-6.2-6.3-6.2 6.3c-.2.2-.3.4-.3.7s.1.5.3.7c.2.2.4.3.7.3h11c.3 0 .5-.1.7-.3.2-.2.3-.5.3-.7s-.1-.5-.3-.7zM5.8 14.7l6.2 6.3 6.2-6.3c.2-.2.3-.5.3-.7s-.1-.5-.3-.7c-.2-.2-.4-.3-.7-.3h-11c-.3 0-.5.1-.7.3-.2.2-.3.5-.3.7s.1.5.3.7z\"\/><\/svg><\/span><\/span><\/span><\/a><\/span><\/div>\n<nav><ul class='ez-toc-list ez-toc-list-level-1 ' ><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-1\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/17p13-3-deletion-syndrome-miller-dieker-syndrome-miller-dieker-lissencephaly-syndrome-mdls-loss\/#%E7%96%BE%E6%82%A3%E6%A6%82%E8%A6%81\" >\u75be\u60a3\u6982\u8981<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/17p13-3-deletion-syndrome-miller-dieker-syndrome-miller-dieker-lissencephaly-syndrome-mdls-loss\/#%E7%97%85%E5%9B%A0%E3%81%A8%E8%A8%BA%E6%96%AD%E3%81%AE%E6%96%B9%E6%B3%95\" >\u75c5\u56e0\u3068\u8a3a\u65ad\u306e\u65b9\u6cd5<\/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\/17p13-3-deletion-syndrome-miller-dieker-syndrome-miller-dieker-lissencephaly-syndrome-mdls-loss\/#%E7%96%BE%E6%82%A3%E3%81%AE%E7%97%87%E7%8A%B6%E3%81%A8%E7%AE%A1%E7%90%86%E6%96%B9%E6%B3%95\" >\u75be\u60a3\u306e\u75c7\u72b6\u3068\u7ba1\u7406\u65b9\u6cd5<\/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\/17p13-3-deletion-syndrome-miller-dieker-syndrome-miller-dieker-lissencephaly-syndrome-mdls-loss\/#%E5%B0%86%E6%9D%A5%E3%81%AE%E8%A6%8B%E9%80%9A%E3%81%97\" >\u5c06\u6765\u306e\u898b\u901a\u3057<\/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\/17p13-3-deletion-syndrome-miller-dieker-syndrome-miller-dieker-lissencephaly-syndrome-mdls-loss\/#%E3%82%82%E3%81%A3%E3%81%A8%E7%9F%A5%E3%82%8A%E3%81%9F%E3%81%84%E6%96%B9%E3%81%B8\" >\u3082\u3063\u3068\u77e5\u308a\u305f\u3044\u65b9\u3078<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/17p13-3-deletion-syndrome-miller-dieker-syndrome-miller-dieker-lissencephaly-syndrome-mdls-loss\/#%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=\"%E7%96%BE%E6%82%A3%E6%A6%82%E8%A6%81\"><\/span>\u75be\u60a3\u6982\u8981<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=\"23\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/17p13.1-hgtIdeo_genome_d6310_e5f220-1024x23.png\" alt=\"17p13.1\" class=\"wp-image-88603\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u30df\u30e9\u30fc\u30fb\u30c7\u30a3\u30fc\u30ab\u30fc\u75c7\u5019\u7fa4\uff08MDS\uff09\u306f\u975e\u5e38\u306b\u7a00\u3067\u91cd\u7be4\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3001\u300c\u96a3\u63a5\u907a\u4f1d\u5b50\u6b20\u5931\u75c7\u5019\u7fa4\u300d\u3068\u3057\u3066\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u75be\u60a3\u306f\u300117\u756a\u67d3\u8272\u4f53\u306e\u77ed\u8155\uff0817p13.3\uff09\u306b\u5b58\u5728\u3059\u308b\u8907\u6570\u306e\u96a3\u63a5\u3059\u308b\u907a\u4f1d\u5b50\u304c\u6b20\u5931\u3059\u308b\u3053\u3068\u3067\u767a\u751f\u3057\u307e\u3059\u3002\u3053\u306e\u6b20\u5931\u306b\u306f\u3001PAFAH1B1\u907a\u4f1d\u5b50\u3084YWHAE\u907a\u4f1d\u5b50\u3092\u542b\u3080\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u304a\u308a\u3001\u7d041.3\u30e1\u30ac\u30d9\u30fc\u30b9\u306e\u7bc4\u56f2\uff0817\u756a\u67d3\u8272\u4f53\u306e\u7d041.57 %\uff09\u306b\u308f\u305f\u308b\u5f71\u97ff\u304c\u898b\u3089\u308c\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u907a\u4f1d\u5b50\u304c\u5931\u308f\u308c\u308b\u3053\u3068\u3067\u3001\u6b63\u5e38\u306a\u767a\u9054\u304c\u59a8\u3052\u3089\u308c\u3001\u8eab\u4f53\u7684\u304a\u3088\u3073\u795e\u7d4c\u5b66\u7684\u306b\u3055\u307e\u3056\u307e\u306a\u554f\u984c\u304c\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306e\u767a\u751f\u7387\u306f\u3001\u51fa\u751f10\u4e07\u4eba\u306b1\u4eba\u7a0b\u5ea6\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u305f\u3060\u3057\u3001\u8a3a\u65ad\u304c\u96e3\u3057\u3044\u3053\u3068\u3084\u533b\u7642\u5f93\u4e8b\u8005\u306e\u8a8d\u77e5\u5ea6\u306b\u3070\u3089\u3064\u304d\u304c\u3042\u308b\u305f\u3081\u3001\u5b9f\u969b\u306e\u767a\u751f\u7387\u306f\u3053\u308c\u3088\u308a\u9ad8\u3044\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:19px\" 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\/2781799_s.jpg\" alt=\"\u8133\" class=\"wp-image-88607\"\/><\/figure><\/div>\n\n\n<div style=\"height:19px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>MDS\u306e\u7279\u5fb4\u3068\u3057\u3066\u6700\u3082\u6ce8\u76ee\u3055\u308c\u308b\u306e\u304c\u3001\u300c\u6ed1\u8133\u75c7\uff08\u30bf\u30a4\u30d7I\u6ed1\u8133\u75c7\uff09\u300d\u3068\u547c\u3070\u308c\u308b\u8133\u306e\u767a\u9054\u7570\u5e38\u3067\u3059\u3002\u6ed1\u8133\u75c7\u3068\u306f\u3001\u598a\u5a20\u4e2d\u306b\u8133\u304c\u6b63\u5e38\u306b\u5f62\u6210\u3055\u308c\u305a\u3001\u8133\u8868\u9762\u304c\u6ed1\u3089\u304b\u306b\u306a\u308b\u72b6\u614b\u3092\u6307\u3057\u307e\u3059\u3002\u3053\u306e\u7d50\u679c\u3001MDS\u306e\u60a3\u8005\u306b\u306f\u91cd\u5ea6\u306e\u767a\u9054\u9045\u5ef6\u3084\u3066\u3093\u304b\u3093\u304c\u307b\u307c\u78ba\u5b9f\u306b\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3055\u3089\u306b\u3001MDS\u306e\u60a3\u8005\u306b\u306f\u7279\u5fb4\u7684\u306a\u9854\u7acb\u3061\u304c\u3088\u304f\u898b\u3089\u308c\u3001\u3053\u308c\u304c\u81e8\u5e8a\u8a3a\u65ad\u306e\u5927\u304d\u306a\u624b\u304c\u304b\u308a\u3068\u306a\u308a\u307e\u3059\u3002\u4ee3\u8868\u7684\u306a\u9854\u306e\u7279\u5fb4\u3068\u3057\u3066\u306f\u3001\u7a81\u304d\u51fa\u305f\u984d\u3001\u3053\u3081\u304b\u307f\u306e\u304f\u307c\u307f\u3001\u77ed\u304f\u4e0a\u5411\u3044\u305f\u9f3b\u3001\u4e0b\u5411\u304d\u306b\u6e7e\u66f2\u3057\u305f\u4e0a\u5507\u306e\u7e01\u3001\u4f4e\u3044\u4f4d\u7f6e\u306b\u3042\u308a\u56de\u8ee2\u3057\u305f\u8033\u3001\u5c0f\u3055\u306a\u984e\uff08\u5c0f\u984e\u75c7\uff09\u304c\u6319\u3052\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n    <a href=\"\/nipt\/xp11-3-deletion-syndrome\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">Xp11.3 \u6b20\u5931\u75c7\u5019\u7fa4 <\/div>\n          <div class=\"blog-card-excerpt\">Xp11.3 \u6b20\u5931\u75c7\u5019\u7fa4\u306b\u95a2\u3059\u308b\u5305\u62ec\u7684\u306a\u60c5\u5831\u3092\u63d0\u4f9b\u3002\u95a2\u9023\u3059\u308b\u907a\u4f1d\u5b50\u5909\u7570\u3084\u75be\u60a3\u3001\u75c7\u72b6\u3001\u8a3a\u65ad\u65b9\u6cd5\u3001\u6cbb\u7642\u30a2\u30d7\u30ed\u30fc\u30c1\u306b\u3064\u3044\u3066\u8a73\u3057\u304f\u89e3\u8aac\u3057\u307e\u3059\u3002...<\/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=\"%E7%97%85%E5%9B%A0%E3%81%A8%E8%A8%BA%E6%96%AD%E3%81%AE%E6%96%B9%E6%B3%95\"><\/span>\u75c5\u56e0\u3068\u8a3a\u65ad\u306e\u65b9\u6cd5<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u30df\u30e9\u30fc\u30fb\u30c7\u30a3\u30fc\u30ab\u30fc\u75c7\u5019\u7fa4\uff08MDS\uff09\u306f\u300117\u756a\u67d3\u8272\u4f53\u306e\u77ed\u8155\uff0817p13.3\uff09\u306b\u5b58\u5728\u3059\u308b\u907a\u4f1d\u5b50\u306e\u4e00\u90e8\u304c\u6b20\u5931\u3059\u308b\u3053\u3068\u306b\u3088\u308a\u767a\u75c7\u3059\u308b\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002\u3053\u306e\u300c\u6b20\u5931\u300d\u3068\u306f\u3001\u67d3\u8272\u4f53\u4e0a\u306e\u7279\u5b9a\u306e\u907a\u4f1d\u5b50\u304c\u7269\u7406\u7684\u306b\u5931\u308f\u308c\u308b\u72b6\u614b\u3092\u6307\u3057\u3001\u6b20\u5931\u306e\u7bc4\u56f2\u306f\u9855\u5fae\u93e1\u3067\u78ba\u8a8d\u3067\u304d\u308b\u307b\u3069\u5927\u304d\u3044\u5834\u5408\u3082\u3042\u308c\u3070\u3001\u975e\u5e38\u306b\u5c0f\u3055\u304f\u3001\u5c02\u9580\u7684\u306a\u907a\u4f1d\u5b50\u691c\u67fb\u3092\u884c\u308f\u306a\u3051\u308c\u3070\u691c\u51fa\u3067\u304d\u306a\u3044\u5834\u5408\u3082\u3042\u308a\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=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"517\" height=\"500\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/chr17-MdXGaCTBRRJLYCPCXYAAATVR.png\" alt=\"chr17\" class=\"wp-image-88614\"\/><\/figure><\/div>\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>MDS\u306e\u3059\u3079\u3066\u306e\u75c7\u4f8b\u3067\u3001\u5fc5\u305aLIS1\u907a\u4f1d\u5b50\uff08PAFAH1B1\uff09\u304c\u6b20\u5931\u3057\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306f\u8133\u306e\u767a\u9054\u306b\u304a\u3044\u3066\u6975\u3081\u3066\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u3066\u304a\u308a\u3001\u305d\u306e\u6b20\u5931\u306b\u3088\u3063\u3066\u300c\u6ed1\u8133\u75c7\uff08lissencephaly\uff09\u300d\u3068\u547c\u3070\u308c\u308b\u72b6\u614b\u304c\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002\u6ed1\u8133\u75c7\u3067\u306f\u3001\u795e\u7d4c\u306e\u767a\u9054\u304c\u963b\u5bb3\u3055\u308c\u3001\u8133\u8868\u9762\u304c\u6ed1\u3089\u304b\u306b\u306a\u308b\u7d50\u679c\u3001\u91cd\u5ea6\u306e\u767a\u9054\u9045\u5ef6\u3084\u795e\u7d4c\u969c\u5bb3\u304c\u751f\u3058\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5b64\u767a\u6027\u6ed1\u8133\u75c7\uff08ILS\uff09\u3067\u306f\u3001LIS1\u907a\u4f1d\u5b50\u306e\u307f\u304c\u5f71\u97ff\u3092\u53d7\u3051\u308b\u306e\u306b\u5bfe\u3057\u3001MDS\u3067\u306fLIS1\u907a\u4f1d\u5b50\u306b\u52a0\u3048\u4ed6\u306e\u907a\u4f1d\u5b50\u3082\u6b20\u5931\u3057\u3066\u3044\u308b\u305f\u3081\u3001\u75c7\u72b6\u304c\u3055\u3089\u306b\u5e83\u7bc4\u56f2\u306b\u53ca\u3073\u3001\u91cd\u7be4\u5316\u3059\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002\u7814\u7a76\u306b\u3088\u308b\u3068\u3001YWHAE\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u306f\u3001MDS\u306e\u91cd\u75c7\u5ea6\u3092\u9ad8\u3081\u308b\u5927\u304d\u306a\u8981\u56e0\u3067\u3042\u308b\u3053\u3068\u304c\u793a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306f14-3-3\u30a4\u30d7\u30b7\u30ed\u30f3\u3068\u3044\u3046\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u30b3\u30fc\u30c9\u3057\u3066\u304a\u308a\u3001\u305d\u306e\u6b20\u5931\u306b\u3088\u308a\u795e\u7d4c\u5b66\u7684\u304a\u3088\u3073\u8eab\u4f53\u7684\u306a\u75c7\u72b6\u304c\u3055\u3089\u306b\u60aa\u5316\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5927\u8133\u76ae\u8cea\uff08\u601d\u8003\u3001\u8a18\u61b6\u3001\u611f\u899a\u306e\u8a8d\u8b58\u306a\u3069\u3001\u91cd\u8981\u306a\u6a5f\u80fd\u3092\u62c5\u3046\u8133\u306e\u5916\u5c64\uff09\u306e\u767a\u9054\u306f\u975e\u5e38\u306b\u8907\u96d1\u306a\u30d7\u30ed\u30bb\u30b9\u3067\u3059\u3002\u3053\u306e\u30d7\u30ed\u30bb\u30b9\u306f\u4e92\u3044\u306b\u91cd\u306a\u308a\u5408\u30463\u3064\u306e\u4e3b\u306a\u6bb5\u968e\u304b\u3089\u6210\u308a\u7acb\u3063\u3066\u3044\u307e\u3059\u3002\u307e\u305a\u3001\u7d30\u80de\u5897\u6b96\u3067\u306f\u3001\u8133\u7d30\u80de\u304c\u6210\u9577\u3057\u5897\u6b96\u3057\u307e\u3059\u3002\u6b21\u306b\u3001\u795e\u7d4c\u79fb\u52d5\u304c\u884c\u308f\u308c\u3001\u3053\u308c\u3089\u306e\u7d30\u80de\u304c\u8133\u5185\u3067\u6b63\u3057\u3044\u4f4d\u7f6e\u306b\u79fb\u52d5\u3057\u307e\u3059\u3002\u305d\u3057\u3066\u6700\u5f8c\u306b\u3001\u76ae\u8cea\u7d44\u7e54\u5316\u306e\u6bb5\u968e\u3067\u3001\u7d30\u80de\u304c\u4e92\u3044\u306b\u63a5\u7d9a\u3055\u308c\u3001\u6a5f\u80fd\u7684\u306a\u30cd\u30c3\u30c8\u30ef\u30fc\u30af\u3068\u3057\u3066\u6574\u7406\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>LIS1\u907a\u4f1d\u5b50\u304c\u7570\u5e38\u307e\u305f\u306f\u6b20\u640d\u3057\u3066\u3044\u308b\u5834\u5408\u3001\u8133\u7d30\u80de\u304c\u9069\u5207\u306a\u4f4d\u7f6e\u306b\u79fb\u52d5\u3059\u308b\u91cd\u8981\u306a\u6bb5\u968e\u3067\u3042\u308b\u795e\u7d4c\u79fb\u52d5\u304c\u59a8\u3052\u3089\u308c\u307e\u3059\u3002\u3053\u306e\u3088\u3046\u306a\u7570\u5e38\u306f\u3001\u6ed1\u8133\u75c7\u3068\u547c\u3070\u308c\u308b\u72b6\u614b\u3092\u5f15\u304d\u8d77\u3053\u3059\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002\u6ed1\u8133\u75c7\u3068\u306f\u3001\u300c\u6ed1\u3089\u304b\u306a\u8133\u300d\u3092\u610f\u5473\u3057\u3001\u767a\u9054\u904e\u7a0b\u3067\u8133\u304c\u9069\u5207\u306b\u5f62\u6210\u3055\u308c\u306a\u304b\u3063\u305f\u305f\u3081\u3001\u8133\u8868\u9762\u304c\u7570\u5e38\u306b\u6ed1\u3089\u304b\u306b\u306a\u308b\u75be\u60a3\u3067\u3059\u3002\u3053\u306e\u72b6\u614b\u306f\u3001\u8133\u304c\u6b63\u5e38\u306b\u5f62\u6210\u304a\u3088\u3073\u6a5f\u80fd\u3057\u306a\u3044\u305f\u3081\u3001\u91cd\u5ea6\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3092\u542b\u3080\u6df1\u523b\u306a\u767a\u9054\u4e0a\u306e\u8ab2\u984c\u3092\u5f15\u304d\u8d77\u3053\u3059\u3053\u3068\u304c\u591a\u3044\u3067\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<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u3055\u3089\u306b\u3001MDS\u3067\u306f\u591a\u304f\u306e\u5834\u5408\u3001YWHAE\u907a\u4f1d\u5b50\u3092\u542b\u3080\u4ed6\u306e\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u3082\u6b20\u5931\u3057\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u3088\u3046\u306b\u8907\u6570\u306e\u96a3\u63a5\u3059\u308b\u907a\u4f1d\u5b50\u304c\u540c\u6642\u306b\u6b20\u5931\u3059\u308b\u72b6\u614b\u306f\u3001\u300c\u96a3\u63a5\u907a\u4f1d\u5b50\u6b20\u5931\u75c7\u5019\u7fa4\u300d\u3068\u547c\u3070\u308c\u307e\u3059\u3002\u3053\u306e\u7a2e\u306e\u75be\u60a3\u3067\u306f\u3001\u305d\u308c\u305e\u308c\u306e\u6b20\u5931\u3057\u305f\u907a\u4f1d\u5b50\u304c\u679c\u305f\u3057\u3066\u3044\u305f\u6a5f\u80fd\u304c\u640d\u306a\u308f\u308c\u308b\u305f\u3081\u3001\u5f71\u97ff\u304c\u591a\u5c90\u306b\u308f\u305f\u308a\u3001\u975e\u5e38\u306b\u8907\u96d1\u306a\u75c7\u72b6\u304c\u73fe\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>MDS\u306e\u60a3\u8005\u306b\u306f\u3001\u7279\u5fb4\u7684\u306a\u9854\u7acb\u3061\u3001\u5148\u5929\u6027\u306e\u7570\u5e38\u3001\u767a\u9054\u969c\u5bb3\u306a\u3069\u304c\u3057\u3070\u3057\u3070\u898b\u3089\u308c\u307e\u3059\u3002\u5178\u578b\u7684\u306a\u75c7\u72b6\u3068\u3057\u3066\u3001\u7a81\u304d\u51fa\u305f\u984d\u3001\u3053\u3081\u304b\u307f\u306e\u304f\u307c\u307f\u3001\u77ed\u304f\u4e0a\u5411\u304d\u306e\u9f3b\u3001\u4e0b\u5411\u304d\u306b\u6e7e\u66f2\u3057\u305f\u4e0a\u5507\u306e\u7e01\u3001\u4f4e\u3044\u4f4d\u7f6e\u3067\u56de\u8ee2\u3057\u305f\u8033\u3001\u5c0f\u3055\u306a\u984e\uff08\u5c0f\u984e\u75c7\uff09\u306a\u3069\u304c\u6319\u3052\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6700\u3082\u91cd\u75c7\u306a\u30b1\u30fc\u30b9\u3067\u306f\u3001LIS1\u907a\u4f1d\u5b50\u3084YWHAE\u907a\u4f1d\u5b50\u306b\u52a0\u3048\u3066\u3055\u3089\u306b\u591a\u304f\u306e\u96a3\u63a5\u907a\u4f1d\u5b50\u304c\u6b20\u5931\u3057\u3066\u3044\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u307e\u305f\u3001\u4e00\u90e8\u306e\u60a3\u8005\u3067\u306f\u300117p13.3\u306e\u4e00\u90e8\u304c\u6b20\u5931\u3057\u3001\u4ed6\u306e\u67d3\u8272\u4f53\u9818\u57df\u304c\u91cd\u8907\u3059\u308b\u4e0d\u5747\u8861\u306a\u67d3\u8272\u4f53\u518d\u69cb\u6210\u304c\u898b\u3089\u308c\u3001\u75c7\u72b6\u306e\u8907\u96d1\u3055\u304c\u3055\u3089\u306b\u5897\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=\"426\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/31295073_s.jpg\" alt=\"\u304a\u3066\u3066\" class=\"wp-image-87378\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u75c7\u72b6\u306f\u3001\u751f\u5f8c0\u301c23\u304b\u6708\u306e\u9593\u306b\u73fe\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002\u30df\u30e9\u30fc\u30fb\u30c7\u30a3\u30fc\u30ab\u30fc\u75c7\u5019\u7fa4\u306e\u539f\u56e0\u3068\u306a\u308b\u3001\u9855\u5fae\u93e1\u3067\u78ba\u8a8d\u3067\u304d\u308b\u6b20\u5931\u3084\u975e\u5e38\u306b\u5c0f\u3055\u304f\u9855\u5fae\u93e1\u3067\u306f\u78ba\u8a8d\u3067\u304d\u306a\u3044\u6b20\u5931\uff08<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\uff09\u306f\u3001\u6b21\u4e16\u4ee3\u30b7\u30fc\u30af\u30a8\u30f3\u30b7\u30f3\u30b0\uff08NGS\uff09\u3092\u4f7f\u7528\u3057\u305f\u975e\u4fb5\u8972\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\uff08<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>\uff09\u306b\u3088\u3063\u3066\u9ad8\u7cbe\u5ea6\u304b\u3064\u5b89\u5168\u306b\u691c\u51fa\u3059\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059\u3002\u3053\u306e\u691c\u67fb\u65b9\u6cd5\u306f\u3001\u6bcd\u4f53\u3084\u80ce\u5150\u306b\u8ca0\u62c5\u3092\u304b\u3051\u308b\u3053\u3068\u306a\u304f\u5b9f\u65bd\u3067\u304d\u308b\u5b89\u5168\u6027\u306e\u9ad8\u3044\u624b\u6cd5\u3068\u3057\u3066\u5e83\u304f\u8a8d\u8b58\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8d85\u97f3\u6ce2\u691c\u67fb\u3082\u3001\u69cb\u9020\u7684\u306a\u7570\u5e38\u304c\u660e\u78ba\u306b\u73fe\u308c\u3066\u3044\u308b\u5834\u5408\u306b\u304a\u3044\u3066\u3001\u30df\u30e9\u30fc\u30fb\u30c7\u30a3\u30fc\u30ab\u30fc\u75c7\u5019\u7fa4\uff08MDS\uff09\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u306b\u6709\u7528\u306a\u624b\u6bb5\u3067\u3059\u3002\u3053\u306e\u65b9\u6cd5\u306f\u80ce\u5150\u306e\u4f53\u306e\u69cb\u9020\u7684\u306a\u7570\u5e38\u3092\u78ba\u8a8d\u3059\u308b\u969b\u306b\u5f79\u7acb\u3061\u3001\u7279\u306b\u8133\u3084\u5fc3\u81d3\u306e\u7570\u5e38\u304c\u7591\u308f\u308c\u308b\u5834\u5408\u306b\u91cd\u8981\u306a\u60c5\u5831\u3092\u63d0\u4f9b\u3057\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\/3pter_p25\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">3pter-p25\u6b20\u5931\u75c7\u5019\u7fa4\u306b\u3064\u3044\u3066 <\/div>\n          <div class=\"blog-card-excerpt\">3pter-p25\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u30013\u756a\u67d3\u8272\u4f53\u306e\u907a\u4f1d\u5b50\u6b20\u5931\u306b\u3088\u308a\u767a\u751f\u3059\u308b\u5e0c\u5c11\u75be\u60a3\u3067\u3001\u767a\u9054\u9045\u5ef6\u3084\u5185\u81d3\u7570\u5e38\u304c\u7279\u5fb4\u3067\u3059\u3002\u65e9\u671f\u306e\u7642\u80b2\u3068\u500b\u5225\u652f\u63f4\u304c\u751f\u6d3b\u306e\u8cea...<\/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:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%96%BE%E6%82%A3%E3%81%AE%E7%97%87%E7%8A%B6%E3%81%A8%E7%AE%A1%E7%90%86%E6%96%B9%E6%B3%95\"><\/span>\u75be\u60a3\u306e\u75c7\u72b6\u3068\u7ba1\u7406\u65b9\u6cd5<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading hidden-heading\"><\/h3>\n\n\n\n<p>\u30df\u30e9\u30fc\u30fb\u30c7\u30a3\u30fc\u30ab\u30fc\u75c7\u5019\u7fa4\uff08MDS\uff09\u306e\u7ba1\u7406\u306f\u3001\u75c7\u72b6\u306e\u7de9\u548c\u3068\u5408\u4f75\u75c7\u306e\u4e88\u9632\u3092\u4e2d\u5fc3\u306b\u884c\u308f\u308c\u307e\u3059\u3002\u3053\u306e\u75be\u60a3\u306f\u591a\u5c90\u306b\u308f\u305f\u308b\u8ab2\u984c\u3092\u4f34\u3046\u305f\u3081\u3001\u8907\u6570\u306e\u5c02\u9580\u5206\u91ce\u304c\u9023\u643a\u3059\u308b\u5305\u62ec\u7684\u306a\u30a2\u30d7\u30ed\u30fc\u30c1\u304c\u6b20\u304b\u305b\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h4 class=\"wp-block-heading\"><strong>\u98df\u4e8b\u3068\u6804\u990a\u7ba1\u7406<\/strong><\/h4>\n\n\n\n<p>MDS\u306e\u5b50\u3069\u3082\u305f\u3061\u306f\u3001\u6442\u98df\u3084\u56a5\u4e0b\uff08\u98f2\u307f\u8fbc\u3080\u52d5\u4f5c\uff09\u306b\u56f0\u96e3\u3092\u62b1\u3048\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u6804\u990a\u4e0d\u826f\u3084\u8aa4\u56a5\u6027\u80ba\u708e\uff08\u98df\u3079\u7269\u3084\u6db2\u4f53\u304c\u8aa4\u3063\u3066\u6c17\u9053\u306b\u5165\u308a\u708e\u75c7\u3092\u5f15\u304d\u8d77\u3053\u3059\u72b6\u614b\uff09\u306e\u30ea\u30b9\u30af\u304c\u9ad8\u307e\u308a\u307e\u3059\u3002\u3053\u306e\u554f\u984c\u306b\u5bfe\u51e6\u3059\u308b\u305f\u3081\u306e\u65b9\u6cd5\u3068\u3057\u3066\u3001\u4ee5\u4e0b\u304c\u6319\u3052\u3089\u308c\u307e\u3059\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u9f3b\u80c3\u7ba1\uff1a\u77ed\u671f\u9593\u306e\u6804\u990a\u88dc\u52a9\u306b\u4f7f\u7528\u3055\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u80c3\u763b\uff08\u3044\u308d\u3046\uff09\u30c1\u30e5\u30fc\u30d6\uff1a\u9577\u671f\u9593\u306e\u6804\u990a\u88dc\u52a9\u304c\u5fc5\u8981\u306a\u5834\u5408\u3001\u7279\u306b\u767a\u80b2\u4e0d\u826f\u3084\u56a5\u4e0b\u56f0\u96e3\u3001\u518d\u767a\u6027\u306e\u8aa4\u56a5\u6027\u80ba\u708e\u304c\u3042\u308b\u5834\u5408\u306b\u63a8\u5968\u3055\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5b9a\u671f\u7684\u306b\u6210\u9577\u306e\u6307\u6a19\u3092\u6e2c\u5b9a\u3057\u3001\u6804\u990a\u72b6\u614b\u3084\u7d4c\u53e3\u6442\u53d6\u306e\u5b89\u5168\u6027\u3092\u8a55\u4fa1\u3059\u308b\u3053\u3068\u304c\u91cd\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h4 class=\"wp-block-heading\"><strong>\u3051\u3044\u308c\u3093\u306e\u7ba1\u7406<\/strong><\/h4>\n\n\n\n<p>\u3051\u3044\u308c\u3093\u767a\u4f5c\u306fMDS\u306e\u4e3b\u8981\u306a\u75c7\u72b6\u3067\u3042\u308a\u3001\u7d99\u7d9a\u7684\u306a\u76e3\u8996\u3068\u9069\u5207\u306a\u6cbb\u7642\u304c\u6c42\u3081\u3089\u308c\u307e\u3059\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u6297\u3051\u3044\u308c\u3093\u85ac\uff1a\u767a\u4f5c\u306e\u7a2e\u985e\u3084\u983b\u5ea6\u306b\u57fa\u3065\u3044\u3066\u500b\u5225\u306b\u8abf\u6574\u3055\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u30d0\u30eb\u30d7\u30ed\u9178\u3068\u30e9\u30e2\u30c8\u30ea\u30ae\u30f3\u3092\u4f75\u7528\u3059\u308b\u6cbb\u7642\u6cd5\uff08\u30dd\u30ea\u30bb\u30e9\u30d4\u30fc\uff09\u306f\u3001\u85ac\u5264\u8010\u6027\u306e\u3042\u308b\u3051\u3044\u308c\u3093\u306e\u7ba1\u7406\u306b\u52b9\u679c\u7684\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u65b0\u305f\u306a\u767a\u4f5c\u3084\u767a\u9054\u306e\u5f8c\u9000\u304c\u898b\u3089\u308c\u305f\u5834\u5408\u306f\u3001\u901f\u3084\u304b\u306b\u5bfe\u51e6\u3059\u308b\u305f\u3081\u306e\u81e8\u5e8a\u7684\u306a\u76e3\u8996\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\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<h4 class=\"wp-block-heading\"><strong>\u4fbf\u79d8\u3068\u6d88\u5316\u5668\u306e\u5065\u5eb7<\/strong><\/h4>\n\n\n\n<p>\u4fbf\u79d8\u306fMDS\u3067\u983b\u7e41\u306b\u898b\u3089\u308c\u308b\u554f\u984c\u3067\u3042\u308a\u3001\u4ee5\u4e0b\u306e\u65b9\u6cd5\u3067\u5bfe\u51e6\u3067\u304d\u307e\u3059\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u4fbf\u8edf\u5316\u5264\u3001\u6d88\u5316\u7ba1\u904b\u52d5\u4fc3\u9032\u85ac\u3001\u6d78\u900f\u5727\u6027\u4e0b\u5264\u3001\u307e\u305f\u306f\u305d\u306e\u4ed6\u306e\u4e0b\u5264\u3092\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u4f7f\u7528\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6d88\u5316\u5668\u306e\u4e0d\u5feb\u611f\u3084\u8aa4\u56a5\u306b\u3088\u308b\u547c\u5438\u4e0d\u5168\u306e\u5146\u5019\u3092\u5b9a\u671f\u7684\u306b\u8a55\u4fa1\u3059\u308b\u3053\u3068\u304c\u91cd\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h4 class=\"wp-block-heading\"><strong>\u767a\u9054\u652f\u63f4\u3068\u611f\u899a\u6a5f\u80fd\u306e\u30b5\u30dd\u30fc\u30c8<\/strong><\/h4>\n\n\n\n<p>MDS\u306e\u5b50\u3069\u3082\u305f\u3061\u306f\u3001\u767a\u9054\u306e\u9045\u308c\u3084\u611f\u899a\u969c\u5bb3\u3092\u62b1\u3048\u308b\u3053\u3068\u304c\u591a\u3044\u305f\u3081\u3001\u533b\u7642\u7684\u304a\u3088\u3073\u6559\u80b2\u7684\u306a\u652f\u63f4\u304c\u5fc5\u8981\u3067\u3059\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3001\u7b4b\u7dca\u5f35\u4ea2\u9032\uff08\u4f53\u304c\u786c\u304f\u306a\u308b\u72b6\u614b\uff09\u3001\u8996\u899a\u969c\u5bb3\u3001\u8074\u899a\u969c\u5bb3\u306b\u5bfe\u3059\u308b\u6cbb\u7642\u3084\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306f\u3001\u751f\u6d3b\u306e\u8cea\u3092\u5411\u4e0a\u3055\u305b\u308b\u4e0a\u3067\u91cd\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u767a\u9054\u306e\u9032\u884c\u72b6\u6cc1\u3001\u79fb\u52d5\u80fd\u529b\u3001\u81ea\u7acb\u3057\u305f\u751f\u6d3b\u30b9\u30ad\u30eb\u3092\u8a55\u4fa1\u3057\u3001\u305d\u308c\u306b\u57fa\u3065\u3044\u305f\u4ecb\u5165\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5b66\u7fd2\u652f\u63f4\u3084\u74b0\u5883\u3078\u306e\u9069\u5fdc\u3092\u4fc3\u9032\u3059\u308b\u305f\u3081\u306b\u3001\u6559\u80b2\u8a55\u4fa1\u3092\u884c\u3044\u3001\u9069\u5207\u306a\u30d7\u30ed\u30b0\u30e9\u30e0\u3092\u63d0\u4f9b\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h4 class=\"wp-block-heading\"><strong>\u5b9a\u671f\u7684\u306a\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0\u3068\u5c02\u9580\u5bb6\u306b\u3088\u308b\u8a55\u4fa1<\/strong><\/h4>\n\n\n\n<p>\u5b9a\u671f\u7684\u306a\u691c\u67fb\u3084\u5c02\u9580\u7684\u306a\u8a55\u4fa1\u306b\u3088\u308a\u3001\u9032\u884c\u72b6\u6cc1\u3092\u8ffd\u8de1\u3057\u3001\u65b0\u305f\u306a\u554f\u984c\u306e\u65e9\u671f\u767a\u898b\u304c\u53ef\u80fd\u306b\u306a\u308a\u307e\u3059\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u6210\u9577\u3084\u6804\u990a\u72b6\u614b\u306e\u8a55\u4fa1\u3092\u5b9a\u671f\u7684\u306b\u5b9f\u65bd\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u773c\u79d1\u691c\u67fb\u3084\u8074\u899a\u691c\u67fb\u306f\u3001\u6bce\u5e74\u307e\u305f\u306f\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u884c\u3044\u3001\u8996\u899a\u304a\u3088\u3073\u8074\u899a\u306e\u554f\u984c\u306b\u5bfe\u5fdc\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u547c\u5438\u5668\u306e\u554f\u984c\u3084\u7570\u5e38\u306a\u767a\u4f5c\u3001\u767a\u9054\u306e\u5f8c\u9000\u306a\u3069\u306e\u5146\u5019\u304c\u3042\u308b\u5834\u5408\u3001\u901f\u3084\u304b\u306b\u533b\u7642\u5bfe\u5fdc\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\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%B0%86%E6%9D%A5%E3%81%AE%E8%A6%8B%E9%80%9A%E3%81%97\"><\/span>\u5c06\u6765\u306e\u898b\u901a\u3057<span 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style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/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=\"%E3%82%82%E3%81%A3%E3%81%A8%E7%9F%A5%E3%82%8A%E3%81%9F%E3%81%84%E6%96%B9%E3%81%B8\"><\/span>\u3082\u3063\u3068\u77e5\u308a\u305f\u3044\u65b9\u3078<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u3010\u5199\u771f\u3042\u308a\u30fb\u82f1\u8a9e\u3011\u30e6\u30cb\u30fc\u30af\uff08Unique\uff09\u306b\u3088\u308b17p13.3\u6b20\u5931\u75c7\u5019\u7fa4\u306b\u95a2\u3059\u308b\u60c5\u5831<a href=\"https:\/\/rarechromo.org\/media\/information\/Chromosome%2017\/17p13.3%20microdeletions%20FTNW.pdf#page=3.74\"> \u30d1\u30f3\u30d5\u30ec\u30c3\u30c8<\/a><\/p>\n\n\n\n<div style=\"height:16px\" 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<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=\"%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\n<p><a href=\"https:\/\/doi.org\/10.1515\/medgen-2022-2144\">Krey, I., Johannesen, K. M., Kohnen, O., &amp; Lemke, J. R. (2022). Genetic testing in adults with developmental and epileptic encephalopathy &#8211; what do we know?. <em>Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V<\/em>, <em>34<\/em>(3), 207\u2013213. https:\/\/doi.org\/10.1515\/medgen-2022-2144<\/a><\/p>\n\n\n\n<p><a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC1715542\/\">vanTuinen, P., Dobyns, W. B., Rich, D. C., Summers, K. M., Robinson, T. J., Nakamura, Y., &amp; Ledbetter, D. H. (1988). Molecular detection of microscopic and submicroscopic deletions associated with Miller-Dieker syndrome.&nbsp;<em>American journal of human genetics<\/em>,&nbsp;<em>43<\/em>(5), 587\u2013596.<\/a><\/p>\n\n\n\n<p><a href=\"https:\/\/doi.org\/10.19224\/ai2017.s591\">Godai, K. (2017). Miller-Dieker syndrome. <em>Godai K: Miller-Dieker syndrome<\/em>, <em>13\u20132017<\/em>, S591\u2013S596. https:\/\/doi.org\/10.19224\/ai2017.s591<\/a><\/p>\n\n\n\n<p><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK5189\/\">Brock S, Dobyns WB, Jansen A. PAFAH1B1-Related Lissencephaly&nbsp;\/ Subcortical Band Heterotopia. 2009 Mar 3 [Updated 2021 Mar 25]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK5189\/<\/a><\/p>\n\n\n\n<p><a href=\"https:\/\/doi.org\/10.1093\/nar\/gkae974\">Perez, G., Barber, G. P., Benet-Pages, A., Casper, J., Clawson, H., Diekhans, M., Fischer, C., Gonzalez, J. N., Hinrichs, A. S., Lee, C. M., Nassar, L. R., Raney, B. J., Speir, M. L., van Baren, M. J., Vaske, C. J., Haussler, D., Kent, W. J., &amp; Haeussler, M. (2024). The UCSC Genome Browser database: 2025 update. Nucleic Acids Research, gkae974. https:\/\/doi.org\/10.1093\/nar\/gkae974<\/a><\/p>\n\n\n\n<p><a href=\"https:\/\/doi.org\/10.1093\/nar\/gkad1049\">Harrison, P. W., Amode, M. R., Austine-Orimoloye, O., Azov, A. G., Barba, M., Barnes, I., Becker, A., Bennett, R., Berry, A., Bhai, J., Bhurji, S. K., Boddu, S., Branco Lins, P. R., Brooks, L., Budhanuru Ramaraju, S., Campbell, L. I., Carbajo Martinez, M., Charkhchi, M., Chougule, K., \u2026 Yates, A. D. (2024). Ensembl 2024. Nucleic Acids Research, 52(D1), D891\u2013D899. https:\/\/doi.org\/10.1093\/nar\/gkad1049<\/a><\/p>\n\n\n\n<div style=\"height:16px\" 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","protected":false},"excerpt":{"rendered":"\u3053\u306e\u8a18\u4e8b\u306e\u307e\u3068\u3081\u30df\u30e9\u30fc\u30fb\u30c7\u30a3\u30fc\u30ab\u30fc\u75c7\u5019\u7fa4&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/17p13-3-deletion-syndrome-miller-dieker-syndrome-miller-dieker-lissencephaly-syndrome-mdls-loss\/\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":101,"featured_media":88624,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[58],"tags":[33,43,49,73],"class_list":["post-83605","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-genetic-disorder","tag-symptom","tag-gene","tag-genetic-disease","tag-deletion-syndrome"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/83605","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\/101"}],"replies":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/comments?post=83605"}],"version-history":[{"count":18,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/83605\/revisions"}],"predecessor-version":[{"id":112177,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/83605\/revisions\/112177"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/88624"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=83605"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=83605"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=83605"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}