{"id":121805,"date":"2026-01-07T17:26:16","date_gmt":"2026-01-07T08:26:16","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=121805"},"modified":"2026-07-23T06:07:47","modified_gmt":"2026-07-22T21:07:47","slug":"chromosome-11p13-deletion-wagr-syndrome-guide","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-11p13-deletion-wagr-syndrome-guide\/","title":{"rendered":"11p13\u6b20\u5931\u75c7\u5019\u7fa4\uff08WAGR\u75c7\u5019\u7fa4\uff09"},"content":{"rendered":"\n<p><strong>\u304a\u5b50\u69d8\u304c\u300c11\u756a\u67d3\u8272\u4f53p13\u6b20\u5931(Chromosome 11p13 deletion)\u300d\u3001\u3042\u308b\u3044\u306f\u300c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/wagr-syndrome-11p13\/\">WAGR\u75c7\u5019\u7fa4<\/a>\u300d\u3068\u3044\u3046\u8a3a\u65ad\u3092\u53d7\u3051\u305f\u3068\u304d\u3001\u805e\u304d\u6163\u308c\u306a\u3044\u75c5\u540d\u3068\u3001\u533b\u5e2b\u304b\u3089\u8aac\u660e\u3055\u308c\u308b\u69d8\u3005\u306a\u75c7\u72b6\u306e\u30ea\u30b9\u30af\u306b\u3001\u5927\u304d\u306a\u885d\u6483\u3068\u4e0d\u5b89\u3092\u611f\u3058\u3089\u308c\u305f\u3053\u3068\u3067\u3057\u3087\u3046\u3002<\/strong><\/p>\n\n\n\n<p><strong>\u7d50\u8ad6\u304b\u3089\u304a\u4f1d\u3048\u3057\u307e\u3059\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/wagr-syndrome-11p13\/\">WAGR\u75c7\u5019\u7fa4<\/a>\u306f\u3001\u539f\u56e0\u3068\u306a\u308b\u907a\u4f1d\u5b50\u3068\u75c7\u72b6\u306e\u95a2\u4fc2\u304c\u533b\u5b66\u7684\u306b\u3088\u304f\u89e3\u660e\u3055\u308c\u3066\u3044\u308b\u75be\u60a3\u306e\u4e00\u3064\u3067\u3001\u300c\u3044\u3064\u3001\u4f55\u3092\u691c\u67fb\u3059\u308c\u3070\u3088\u3044\u304b\u300d\u3068\u3044\u3046\u7ba1\u7406\u6307\u91dd\u304c\u306f\u3063\u304d\u308a\u3057\u3066\u3044\u307e\u3059\u3002<\/strong>\u7279\u306b\u814e\u81d3\u306b\u3067\u304d\u308b\u30a6\u30a3\u30eb\u30e0\u30b9\u816b\u760d\u306f\u3001\u6c7a\u3081\u3089\u308c\u305f\u9593\u9694\u3067\u8179\u90e8\u30a8\u30b3\u30fc\u691c\u67fb\u3092\u53d7\u3051\u308b\u3053\u3068\u3067\u3001\u65e9\u671f\u767a\u898b\u30fb\u65e9\u671f\u6cbb\u7642\u306b\u3064\u306a\u3052\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u8a18\u4e8b\u3067\u306f\u3001\u539f\u56e0\u3068\u306a\u308b\u67d3\u8272\u4f53\u306e\u5909\u5316\u304b\u3089\u75c7\u72b6\u3001\u4f3c\u305f\u540d\u524d\u306e\u75c5\u6c17\u3068\u306e\u9055\u3044\u3001\u8a3a\u65ad\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u30fbNIPT\u3068\u306e\u95a2\u4fc2\u3001\u6cbb\u7642\u3068\u3054\u5bb6\u65cf\u3078\u306e\u30b5\u30dd\u30fc\u30c8\u307e\u3067\u3092\u3001GeneReviews\u30fb\u96e3\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc\u30fb\u5c0f\u5150\u6162\u6027\u7279\u5b9a\u75be\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc\u306a\u3069\u306e\u516c\u7684\u6a5f\u95a2\u30fb\u5b66\u8853\u60c5\u5831\u306b\u3082\u3068\u3065\u3044\u3066\u6574\u7406\u3057\u307e\u3059\u3002<\/p>\n\n\n\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><strong><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/wagr-syndrome-11p13\/\">WAGR\u75c7\u5019\u7fa4<\/a>\u306f\u300111\u756a\u67d3\u8272\u4f53\u77ed\u815513\u9818\u57df\u306b\u3042\u308bPAX6\u907a\u4f1d\u5b50\u3068WT1\u907a\u4f1d\u5b50\u304c\u307e\u3068\u3081\u3066\u5931\u308f\u308c\u308b\u3053\u3068\u3067\u8d77\u3053\u308b\u96a3\u63a5\u907a\u4f1d\u5b50\u75c7\u5019\u7fa4\u3067\u3001\u7121\u8679\u5f69\u30fb\u30a6\u30a3\u30eb\u30e0\u30b9\u816b\u760d\u30fb\u6ccc\u5c3f\u751f\u6b96\u5668\u7570\u5e38\u30fb\u767a\u9054\u306e\u9045\u308c\u304c\u4ee3\u8868\u7684\u306a\u75c7\u72b6\u3067\u3059\u3002<\/strong>\u539f\u56e0\u306e\u5927\u591a\u6570\u306f\u5076\u767a\u7684\u306a\u7a81\u7136\u5909\u7570(de novo)\u3067\u3001\u3054\u4e21\u89aa\u306e\u80b2\u3066\u65b9\u3084\u904e\u3054\u3057\u65b9\u304c\u539f\u56e0\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u6700\u91cd\u8981\u4e8b\u9805\u306f\u3001\u30a6\u30a3\u30eb\u30e0\u30b9\u816b\u760d\u306e\u65e9\u671f\u767a\u898b\u306e\u305f\u30818\u6b73\u9803\u307e\u30673\u30f6\u6708\u3054\u3068\u306e\u8179\u90e8\u30a8\u30b3\u30fc\u691c\u67fb\u3092\u7d9a\u3051\u308b\u3053\u3068\u3002\u6a19\u6e96\u7684\u306aNIPT\u306e\u5bfe\u8c61\u306b\u306f\u901a\u5e38\u542b\u307e\u308c\u305a\u3001\u78ba\u5b9a\u8a3a\u65ad\u306b\u306f\u51fa\u751f\u5f8c\u307e\u305f\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u306b\u3088\u308b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u691c\u67fb(CMA)\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p><\/div>\n\n\n\n<div style=\"border:1px solid #e8608a;border-radius:8px;background:#fff5f8;padding:4% 5%;margin:1rem 0 2.5rem;\"><p style=\"font-weight:bold;font-size:1.05em;margin-top:0;\">\u3053\u306e\u8a18\u4e8b\u3067\u308f\u304b\u308b\u3053\u3068<\/p><ul style=\"margin-bottom:0;\"><li><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/wagr-syndrome-11p13\/\">WAGR\u75c7\u5019\u7fa4<\/a>\u304c\u3069\u306e\u3088\u3046\u306a\u67d3\u8272\u4f53\u306e\u5909\u5316\u3067\u3001\u3069\u306e\u907a\u4f1d\u5b50\u304c\u95a2\u308f\u3063\u3066\u3044\u308b\u304b<\/li><li>W(\u30a6\u30a3\u30eb\u30e0\u30b9\u816b\u760d)\u30fbA(\u7121\u8679\u5f69)\u30fbG(\u6ccc\u5c3f\u751f\u6b96\u5668\u7570\u5e38)\u30fbR(\u767a\u9054\u306e\u9045\u308c)\u305d\u308c\u305e\u308c\u306e\u75c7\u72b6\u3068\u6b63\u78ba\u306a\u767a\u75c7\u983b\u5ea6<\/li><li>\u4f3c\u305f\u540d\u524d\u306e\u300c11p11.2\u6b20\u5931\u75c7\u5019\u7fa4(\u30dd\u30c8\u30c3\u30ad\u30fb\u30b7\u30a7\u30a4\u30d5\u30a1\u30fc\u75c7\u5019\u7fa4)\u300d\u3068\u306e\u9055\u3044<\/li><li>\u539f\u56e0\u306e\u591a\u304f\u304c\u5076\u767a\u7684\u306a\u5909\u7570\u3067\u3042\u308b\u7406\u7531\u3068\u3001\u307e\u308c\u306b\u907a\u4f1d\u3059\u308b\u30b1\u30fc\u30b9<\/li><li>\u30a6\u30a3\u30eb\u30e0\u30b9\u816b\u760d\u30fb\u814e\u6a5f\u80fd\u3092\u5b88\u308b\u305f\u3081\u306e\u691c\u67fb\u30b9\u30b1\u30b8\u30e5\u30fc\u30eb\u3068<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u30fbNIPT\u3068\u306e\u95a2\u4fc2<\/li><li>\u6cbb\u7642\u65b9\u91dd\u3001\u65e5\u3005\u306e\u751f\u6d3b\u306e\u5de5\u592b\u3001\u3054\u5bb6\u65cf\u3078\u306e\u652f\u63f4\u5148<\/li><\/ul><\/div>\n\n\n\n\n\n\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_86 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\/chromosome-11p13-deletion-wagr-syndrome-guide\/#%E6%A6%82%E8%A6%81%EF%BC%9A%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E7%97%85%E6%B0%97%E3%81%8B\" >\u6982\u8981\uff1a\u3069\u306e\u3088\u3046\u306a\u75c5\u6c17\u304b<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-11p13-deletion-wagr-syndrome-guide\/#WAGR%E3%83%AF%E3%82%B0%E3%83%8A%E3%83%BC%E7%97%87%E5%80%99%E7%BE%A4%E3%81%AE%E5%90%8D%E5%89%8D%E3%81%AE%E7%94%B1%E6%9D%A5\" >WAGR(\u30ef\u30b0\u30ca\u30fc)\u75c7\u5019\u7fa4\u306e\u540d\u524d\u306e\u7531\u6765<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-11p13-deletion-wagr-syndrome-guide\/#%E6%9F%93%E8%89%B2%E4%BD%93%E3%81%AE%E3%80%8C%E4%BD%8F%E6%89%80%E3%80%8D%E3%82%92%E8%AA%AD%E3%81%BF%E8%A7%A3%E3%81%8F\" >\u67d3\u8272\u4f53\u306e\u300c\u4f4f\u6240\u300d\u3092\u8aad\u307f\u89e3\u304f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-11p13-deletion-wagr-syndrome-guide\/#%E3%80%8C%E8%A8%AD%E8%A8%88%E5%9B%B3%E3%80%8D%E3%81%AE%E9%87%8D%E8%A6%81%E3%81%AA%E3%83%9A%E3%83%BC%E3%82%B8%E3%81%8C%E3%81%AA%E3%81%84%E7%8A%B6%E6%85%8B\" >\u300c\u8a2d\u8a08\u56f3\u300d\u306e\u91cd\u8981\u306a\u30da\u30fc\u30b8\u304c\u306a\u3044\u72b6\u614b<\/a><\/li><\/ul><\/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\/chromosome-11p13-deletion-wagr-syndrome-guide\/#%E4%B8%BB%E3%81%AA%E7%97%87%E7%8A%B6%EF%BC%9AWAGR%E3%81%AE%E9%A0%AD%E6%96%87%E5%AD%97%E3%81%AB%E6%B2%BF%E3%81%A3%E3%81%A6\" >\u4e3b\u306a\u75c7\u72b6\uff1aWAGR\u306e\u982d\u6587\u5b57\u306b\u6cbf\u3063\u3066<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-11p13-deletion-wagr-syndrome-guide\/#A_Aniridia%E7%84%A1%E8%99%B9%E5%BD%A9%E7%97%87\" >A: Aniridia(\u7121\u8679\u5f69\u75c7)<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-11p13-deletion-wagr-syndrome-guide\/#W_Wilms_tumor%E3%82%A6%E3%82%A3%E3%83%AB%E3%83%A0%E3%82%B9%E8%85%AB%E7%98%8D\" >W: Wilms tumor(\u30a6\u30a3\u30eb\u30e0\u30b9\u816b\u760d)<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-11p13-deletion-wagr-syndrome-guide\/#G_Genitourinary_anomalies%E6%B3%8C%E5%B0%BF%E7%94%9F%E6%AE%96%E5%99%A8%E5%A5%87%E5%BD%A2\" >G: Genitourinary anomalies(\u6ccc\u5c3f\u751f\u6b96\u5668\u5947\u5f62)<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-11p13-deletion-wagr-syndrome-guide\/#R_Range_of_developmental_delays%E7%99%BA%E9%81%94%E3%81%AE%E9%81%85%E3%82%8C%E3%83%BB%E7%9F%A5%E7%9A%84%E9%9A%9C%E5%AE%B3\" >R: Range of developmental delays(\u767a\u9054\u306e\u9045\u308c\u30fb\u77e5\u7684\u969c\u5bb3)<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-11p13-deletion-wagr-syndrome-guide\/#O_Obesity%E8%82%A5%E6%BA%80\" >O: Obesity(\u80a5\u6e80)<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-11p13-deletion-wagr-syndrome-guide\/#%E3%82%88%E3%81%8F%E4%BC%BC%E3%81%9F%E5%90%8D%E5%89%8D%E3%81%AE%E7%97%85%E6%B0%97%E3%80%8C11p112%E6%AC%A0%E5%A4%B1%E7%97%87%E5%80%99%E7%BE%A4%E3%83%9D%E3%83%88%E3%83%83%E3%82%AD%E3%83%BB%E3%82%B7%E3%82%A7%E3%82%A4%E3%83%95%E3%82%A1%E3%83%BC%E7%97%87%E5%80%99%E7%BE%A4%E3%80%8D%E3%81%A8%E3%81%AE%E9%81%95%E3%81%84\" >\u3088\u304f\u4f3c\u305f\u540d\u524d\u306e\u75c5\u6c17\u300c11p11.2\u6b20\u5931\u75c7\u5019\u7fa4(\u30dd\u30c8\u30c3\u30ad\u30fb\u30b7\u30a7\u30a4\u30d5\u30a1\u30fc\u75c7\u5019\u7fa4)\u300d\u3068\u306e\u9055\u3044<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-12\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-11p13-deletion-wagr-syndrome-guide\/#%E5%8E%9F%E5%9B%A0%EF%BC%9A%E3%81%AA%E3%81%9C%E8%B5%B7%E3%81%8D%E3%81%9F%E3%81%AE%E3%81%8B\" >\u539f\u56e0\uff1a\u306a\u305c\u8d77\u304d\u305f\u306e\u304b<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-13\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-11p13-deletion-wagr-syndrome-guide\/#1_%E7%AA%81%E7%84%B6%E5%A4%89%E7%95%B0de_novo%E5%A4%89%E7%95%B0\" >1. \u7a81\u7136\u5909\u7570(de novo\u5909\u7570)<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-11p13-deletion-wagr-syndrome-guide\/#2_%E8%A6%AA%E3%81%AE%E6%9F%93%E8%89%B2%E4%BD%93%E8%BB%A2%E5%BA%A7%E3%81%BE%E3%82%8C%E3%81%AA%E3%82%B1%E3%83%BC%E3%82%B9\" >2. \u89aa\u306e\u67d3\u8272\u4f53\u8ee2\u5ea7(\u307e\u308c\u306a\u30b1\u30fc\u30b9)<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-15\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-11p13-deletion-wagr-syndrome-guide\/#%E8%A8%BA%E6%96%AD%E3%81%A8%E6%A4%9C%E6%9F%BB\" >\u8a3a\u65ad\u3068\u691c\u67fb<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-11p13-deletion-wagr-syndrome-guide\/#1_%E6%9F%93%E8%89%B2%E4%BD%93%E6%A4%9C%E6%9F%BBG%E5%88%86%E6%9F%93%E6%B3%95%E3%83%BBFISH%E6%B3%95%E3%83%BB%E3%83%9E%E3%82%A4%E3%82%AF%E3%83%AD%E3%82%A2%E3%83%AC%E3%82%A4\" >1. \u67d3\u8272\u4f53\u691c\u67fb(G\u5206\u67d3\u6cd5\u30fbFISH\u6cd5\u30fb\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4)<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-11p13-deletion-wagr-syndrome-guide\/#2_%E8%85%B9%E9%83%A8%E8%B6%85%E9%9F%B3%E6%B3%A2%E3%82%A8%E3%82%B3%E3%83%BC%E6%A4%9C%E6%9F%BB\" >2. \u8179\u90e8\u8d85\u97f3\u6ce2(\u30a8\u30b3\u30fc)\u691c\u67fb<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-18\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-11p13-deletion-wagr-syndrome-guide\/#3_%E7%9C%BC%E7%A7%91%E6%A4%9C%E6%9F%BB\" >3. \u773c\u79d1\u691c\u67fb<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-19\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-11p13-deletion-wagr-syndrome-guide\/#%E5%87%BA%E7%94%9F%E5%89%8D%E8%A8%BA%E6%96%AD%E3%83%BBNIPT%E3%81%A8%E3%81%AE%E9%96%A2%E4%BF%82\" >\u51fa\u751f\u524d\u8a3a\u65ad\u30fbNIPT\u3068\u306e\u95a2\u4fc2<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-20\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-11p13-deletion-wagr-syndrome-guide\/#%E6%B2%BB%E7%99%82%E3%81%A8%E7%AE%A1%E7%90%86%EF%BC%9A%E3%81%93%E3%82%8C%E3%81%8B%E3%82%89%E3%81%AE%E3%83%AD%E3%83%BC%E3%83%89%E3%83%9E%E3%83%83%E3%83%97\" >\u6cbb\u7642\u3068\u7ba1\u7406\uff1a\u3053\u308c\u304b\u3089\u306e\u30ed\u30fc\u30c9\u30de\u30c3\u30d7<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-21\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-11p13-deletion-wagr-syndrome-guide\/#1_%E3%82%A6%E3%82%A3%E3%83%AB%E3%83%A0%E3%82%B9%E8%85%AB%E7%98%8D%E3%81%AE%E7%9B%A3%E8%A6%96%E6%9C%80%E9%87%8D%E8%A6%81\" >1. \u30a6\u30a3\u30eb\u30e0\u30b9\u816b\u760d\u306e\u76e3\u8996(\u6700\u91cd\u8981)<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-22\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-11p13-deletion-wagr-syndrome-guide\/#2_%E8%85%8E%E6%A9%9F%E8%83%BD%E3%81%AE%E4%BF%9D%E8%AD%B7\" >2. \u814e\u6a5f\u80fd\u306e\u4fdd\u8b77<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-23\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-11p13-deletion-wagr-syndrome-guide\/#3_%E7%9C%BC%E7%A7%91%E7%9A%84%E3%82%B1%E3%82%A2\" >3. \u773c\u79d1\u7684\u30b1\u30a2<\/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\/chromosome-11p13-deletion-wagr-syndrome-guide\/#4_%E7%99%82%E8%82%B2%E3%83%8F%E3%83%93%E3%83%AA%E3%83%86%E3%83%BC%E3%82%B7%E3%83%A7%E3%83%B3\" >4. \u7642\u80b2(\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3)<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-25\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-11p13-deletion-wagr-syndrome-guide\/#5_%E8%82%A5%E6%BA%80%E5%AF%BE%E7%AD%96WAGRO%E3%81%AE%E5%A0%B4%E5%90%88\" >5. \u80a5\u6e80\u5bfe\u7b56(WAGRO\u306e\u5834\u5408)<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-26\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-11p13-deletion-wagr-syndrome-guide\/#%E6%97%A5%E3%80%85%E3%81%AE%E7%94%9F%E6%B4%BB%E3%81%A7%E3%81%AE%E5%B7%A5%E5%A4%AB\" >\u65e5\u3005\u306e\u751f\u6d3b\u3067\u306e\u5de5\u592b<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-27\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-11p13-deletion-wagr-syndrome-guide\/#%E3%82%88%E3%81%8F%E3%81%82%E3%82%8B%E8%B3%AA%E5%95%8FFAQ\" >\u3088\u304f\u3042\u308b\u8cea\u554f(FAQ)<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-28\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-11p13-deletion-wagr-syndrome-guide\/#%E5%AF%BF%E5%91%BD%E3%81%AB%E5%BD%B1%E9%9F%BF%E3%81%AF%E3%81%82%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >\u5bff\u547d\u306b\u5f71\u97ff\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-29\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-11p13-deletion-wagr-syndrome-guide\/#%E7%9F%A5%E7%9A%84%E9%9A%9C%E5%AE%B3%E3%81%AF%E5%BF%85%E3%81%9A%E3%81%82%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >\u77e5\u7684\u969c\u5bb3\u306f\u5fc5\u305a\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-30\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-11p13-deletion-wagr-syndrome-guide\/#%E3%82%A6%E3%82%A3%E3%83%AB%E3%83%A0%E3%82%B9%E8%85%AB%E7%98%8D%E3%81%AE%E7%99%BA%E7%97%87%E3%83%AA%E3%82%B9%E3%82%AF%E3%81%AF%E3%81%A9%E3%81%AE%E3%81%8F%E3%82%89%E3%81%84%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\" >\u30a6\u30a3\u30eb\u30e0\u30b9\u816b\u760d\u306e\u767a\u75c7\u30ea\u30b9\u30af\u306f\u3069\u306e\u304f\u3089\u3044\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-31\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-11p13-deletion-wagr-syndrome-guide\/#%E6%AC%A1%E3%81%AE%E5%AD%90%E3%81%AB%E9%81%BA%E4%BC%9D%E3%81%97%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >\u6b21\u306e\u5b50\u306b\u907a\u4f1d\u3057\u307e\u3059\u304b\u3002<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-32\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-11p13-deletion-wagr-syndrome-guide\/#%E3%81%93%E3%81%AE%E7%97%85%E6%B0%97%E3%81%AFNIPT%E3%81%A7%E3%82%8F%E3%81%8B%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >\u3053\u306e\u75c5\u6c17\u306fNIPT\u3067\u308f\u304b\u308a\u307e\u3059\u304b\u3002<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-33\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-11p13-deletion-wagr-syndrome-guide\/#%E3%80%8C11p112%E6%AC%A0%E5%A4%B1%E7%97%87%E5%80%99%E7%BE%A4%E3%83%9D%E3%83%88%E3%83%83%E3%82%AD%E3%83%BB%E3%82%B7%E3%82%A7%E3%82%A4%E3%83%95%E3%82%A1%E3%83%BC%E7%97%87%E5%80%99%E7%BE%A4%E3%80%8D%E3%81%A8%E5%90%8C%E3%81%98%E7%97%85%E6%B0%97%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\" >\u300c11p11.2\u6b20\u5931\u75c7\u5019\u7fa4(\u30dd\u30c8\u30c3\u30ad\u30fb\u30b7\u30a7\u30a4\u30d5\u30a1\u30fc\u75c7\u5019\u7fa4)\u300d\u3068\u540c\u3058\u75c5\u6c17\u3067\u3059\u304b\u3002<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-34\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-11p13-deletion-wagr-syndrome-guide\/#%E3%81%BE%E3%81%A8%E3%82%81\" >\u307e\u3068\u3081<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-35\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-11p13-deletion-wagr-syndrome-guide\/#%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%EF%BC%9A%E7%9F%A5%E8%AD%98%E3%81%AF%E5%B8%8C%E6%9C%9B%E3%81%AB%E3%81%AA%E3%82%8A%E3%81%BE%E3%81%99\" >\u5bb6\u65cf\u3078\u306e\u30e1\u30c3\u30bb\u30fc\u30b8\uff1a\u77e5\u8b58\u306f\u5e0c\u671b\u306b\u306a\u308a\u307e\u3059<\/a><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%A6%82%E8%A6%81%EF%BC%9A%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E7%97%85%E6%B0%97%E3%81%8B\"><\/span><strong>\u6982\u8981\uff1a\u3069\u306e\u3088\u3046\u306a\u75c5\u6c17\u304b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>11p13\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u300111\u756a\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u5931\u308f\u308c\u3066\u3044\u308b(\u6b20\u5931\u3057\u3066\u3044\u308b)\u3053\u3068\u306b\u3088\u3063\u3066\u8d77\u3053\u308b\u3001\u751f\u307e\u308c\u3064\u304d\u306e\u67d3\u8272\u4f53\u75be\u60a3\u3067\u3059\u3002<\/strong>\u3053\u306e\u9818\u57df\u306b\u306f\u773c\u3084\u814e\u81d3\u3001\u8133\u306e\u767a\u9054\u306b\u95a2\u308f\u308b\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u304c\u4e26\u3093\u3067\u5b58\u5728\u3057\u3066\u304a\u308a\u3001\u305d\u308c\u3089\u304c\u307e\u3068\u3081\u3066\u6b20\u5931\u3059\u308b\u3053\u3068\u3067\u8907\u6570\u306e\u75c7\u72b6\u304c\u73fe\u308c\u307e\u3059\u3002\u3053\u306e\u3088\u3046\u306b\u3001\u96a3\u308a\u5408\u3046\u907a\u4f1d\u5b50\u304c\u4e00\u7dd2\u306b\u6b20\u5931\u3057\u3066\u8d77\u3053\u308b\u75c5\u6c17\u3092\u300c\u96a3\u63a5\u907a\u4f1d\u5b50\u75c7\u5019\u7fa4(\u308a\u3093\u305b\u3064\u3044\u3067\u3093\u3057\u30fb\u3057\u3087\u3046\u3053\u3046\u3050\u3093)\u300d\u3068\u547c\u3073\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"WAGR%E3%83%AF%E3%82%B0%E3%83%8A%E3%83%BC%E7%97%87%E5%80%99%E7%BE%A4%E3%81%AE%E5%90%8D%E5%89%8D%E3%81%AE%E7%94%B1%E6%9D%A5\"><\/span><strong>WAGR(\u30ef\u30b0\u30ca\u30fc)\u75c7\u5019\u7fa4\u306e\u540d\u524d\u306e\u7531\u6765<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306f\u3001\u4e3b\u306a4\u3064\u306e\u75c7\u72b6\u306e\u982d\u6587\u5b57\u3092\u3068\u3063\u3066\u300c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/wagr-syndrome-11p13\/\">WAGR\u75c7\u5019\u7fa4<\/a>\u300d\u3068\u547c\u3070\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>W<\/strong>ilms tumor(\u30a6\u30a3\u30eb\u30e0\u30b9\u816b\u760d)\uff1a\u5c0f\u5150\u306e\u814e\u81d3\u304c\u3093<\/li>\n\n\n\n<li><strong>A<\/strong>niridia(\u7121\u8679\u5f69\u75c7)\uff1a\u9ed2\u76ee(\u8679\u5f69)\u306e\u6b20\u640d<\/li>\n\n\n\n<li><strong>G<\/strong>enitourinary anomalies(\u6ccc\u5c3f\u751f\u6b96\u5668\u5947\u5f62)\uff1a\u6027\u5668\u3084\u5c3f\u8def\u306e\u5f62\u6210\u7570\u5e38<\/li>\n\n\n\n<li><strong>R<\/strong>ange of developmental delays(\u767a\u9054\u306e\u9045\u308c)\uff1a<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u306a\u3069\n<ul class=\"wp-block-list\">\n<li><em>(\u304b\u3064\u3066\u306f Retardation \u3068\u547c\u3070\u308c\u3066\u3044\u307e\u3057\u305f\u304c\u3001\u73fe\u5728\u306f\u3088\u308a\u9069\u5207\u306a\u8868\u73fe\u304c\u4f7f\u308f\u308c\u307e\u3059)<\/em><\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p>\u6700\u8fd1\u3067\u306f\u3001\u3053\u308c\u306b<strong>O<\/strong>besity(\u80a5\u6e80)\u3092\u52a0\u3048\u3066\u3001\u300cWAGRO(\u30ef\u30b0\u30ed)\u75c7\u5019\u7fa4\u300d\u3068\u547c\u3070\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%9F%93%E8%89%B2%E4%BD%93%E3%81%AE%E3%80%8C%E4%BD%8F%E6%89%80%E3%80%8D%E3%82%92%E8%AA%AD%E3%81%BF%E8%A7%A3%E3%81%8F\"><\/span><strong>\u67d3\u8272\u4f53\u306e\u300c\u4f4f\u6240\u300d\u3092\u8aad\u307f\u89e3\u304f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Chromosome 11(11\u756a\u67d3\u8272\u4f53):<\/strong> \u30d2\u30c8\u306e23\u5bfe\u306e\u67d3\u8272\u4f53\u306e\u3046\u3061\u300111\u756a\u76ee\u306e\u67d3\u8272\u4f53\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>p(\u77ed\u8155):<\/strong> \u67d3\u8272\u4f53\u306b\u306f\u304f\u3073\u308c\u304c\u3042\u308a\u3001\u77ed\u3044\u65b9\u3092\u300c\u77ed\u8155(p)\u300d\u3001\u9577\u3044\u65b9\u3092\u300c\u9577\u8155(q)\u300d\u3068\u547c\u3073\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>13(\u9818\u57df):<\/strong> \u77ed\u8155\u306e\u300c13\u756a\u300d\u3068\u3044\u3046\u533a\u753b\u304c\u6b20\u3051\u3066\u3044\u308b\u3053\u3068\u3092\u610f\u5473\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>Deletion(\u6b20\u5931):<\/strong> \u305d\u306e\u90e8\u5206\u306e\u907a\u4f1d\u60c5\u5831\u304c\u629c\u3051\u843d\u3061\u3066\u3044\u308b\u72b6\u614b\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u540c\u305811\u756a\u67d3\u8272\u4f53\u306e\u77ed\u8155\u3067\u3082\u3001\u5c11\u3057\u96e2\u308c\u305f\u300cp11.2\u300d\u3068\u3044\u3046\u533a\u753b\u304c\u6b20\u3051\u308b\u3068\u3001\u5225\u306e\u75c5\u6c17\u3067\u3042\u308b\u300c11p11.2\u6b20\u5931\u75c7\u5019\u7fa4(\u30dd\u30c8\u30c3\u30ad\u30fb\u30b7\u30a7\u30a4\u30d5\u30a1\u30fc\u75c7\u5019\u7fa4)\u300d\u306b\u306a\u308a\u307e\u3059\u3002\u6df7\u540c\u3055\u308c\u3084\u3059\u3044\u305f\u3081\u3001\u6b21\u306e\u7ae0\u3067\u9055\u3044\u3092\u6574\u7406\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%80%8C%E8%A8%AD%E8%A8%88%E5%9B%B3%E3%80%8D%E3%81%AE%E9%87%8D%E8%A6%81%E3%81%AA%E3%83%9A%E3%83%BC%E3%82%B8%E3%81%8C%E3%81%AA%E3%81%84%E7%8A%B6%E6%85%8B\"><\/span><strong>\u300c\u8a2d\u8a08\u56f3\u300d\u306e\u91cd\u8981\u306a\u30da\u30fc\u30b8\u304c\u306a\u3044\u72b6\u614b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u67d3\u8272\u4f53\u3092\u300c\u516846\u5dfb\u306e\u767e\u79d1\u4e8b\u5178(\u4f53\u306e\u8a2d\u8a08\u56f3)\u300d\u306b\u4f8b\u3048\u308b\u306a\u3089\u3001\u3053\u306e\u75c7\u5019\u7fa4\u306f\u3001\u300c\u7b2c11\u5dfb\u306ep13\u3068\u3044\u3046\u7ae0\u306e\u30da\u30fc\u30b8\u304c\u629c\u3051\u843d\u3061\u3066\u3057\u307e\u3063\u3066\u3044\u308b\u300d\u72b6\u614b\u3067\u3059\u3002\u3053\u306e\u30da\u30fc\u30b8\u306b\u306f\u3001\u4ee5\u4e0b\u306e2\u3064\u306e\u8d85\u91cd\u8981\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>PAX6\u907a\u4f1d\u5b50:<\/strong> \u773c\u3068\u8133\u3092\u4f5c\u308b\u6307\u4ee4\u3092\u51fa\u3059\u3002<\/li>\n\n\n\n<li><strong>WT1\u907a\u4f1d\u5b50:<\/strong> \u814e\u81d3\u3068\u6027\u817a(\u7cbe\u5de3\u30fb\u5375\u5de3)\u3092\u4f5c\u308b\u6307\u4ee4\u3092\u51fa\u3059\u3002<\/li>\n<\/ol>\n\n\n\n<p>\u3053\u306e2\u3064\u306e\u907a\u4f1d\u5b50\u304c\u540c\u6642\u306b\u5931\u308f\u308c\u308b\u3053\u3068\u3067\u3001\u76ee\u3068\u814e\u81d3\u30fb\u6027\u5668\u306b\u75c7\u72b6\u304c\u51fa\u307e\u3059\u3002\u56fd\u5185\u3067\u306f\u60a3\u8005\u6570\u304c\u304a\u304a\u3080\u306d100\u301c200\u4eba\u7a0b\u5ea6\u3068\u63a8\u5b9a\u3055\u308c\u308b\u3001\u3054\u304f\u5e0c\u5c11\u306a\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%B8%BB%E3%81%AA%E7%97%87%E7%8A%B6%EF%BC%9AWAGR%E3%81%AE%E9%A0%AD%E6%96%87%E5%AD%97%E3%81%AB%E6%B2%BF%E3%81%A3%E3%81%A6\"><\/span><strong>\u4e3b\u306a\u75c7\u72b6\uff1aWAGR\u306e\u982d\u6587\u5b57\u306b\u6cbf\u3063\u3066<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/wagr-syndrome-11p13\/\">WAGR\u75c7\u5019\u7fa4<\/a>\u306e4\u3064\u306e\u4e3b\u8981\u75c7\u72b6\u306f\u3001\u305d\u308c\u305e\u308c\u767a\u75c7\u6642\u671f\u3082\u91cd\u75c7\u5ea6\u3082\u7570\u306a\u308a\u3001\u3059\u3079\u3066\u304c\u540c\u3058\u5f37\u3055\u3067\u73fe\u308c\u308b\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/strong>\u305d\u308c\u305e\u308c\u306e\u75c7\u72b6\u306b\u3064\u3044\u3066\u3001\u8a73\u3057\u304f\u89e3\u8aac\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"A_Aniridia%E7%84%A1%E8%99%B9%E5%BD%A9%E7%97%87\"><\/span><strong>A: Aniridia(\u7121\u8679\u5f69\u75c7)<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u591a\u304f\u306e\u5834\u5408\u3001\u6700\u521d\u306b\u6c17\u3065\u304b\u308c\u308b\u75c7\u72b6\u3067\u3059\u3002\u751f\u307e\u308c\u305f\u76f4\u5f8c\u306b\u300c\u9ed2\u76ee\u304c\u5927\u304d\u3044\u300d\u300c\u9ed2\u76ee\u3068\u767d\u76ee\u306e\u5883\u76ee\u304c\u306a\u3044\u300d\u3053\u3068\u3067\u767a\u898b\u3055\u308c\u3001\u8a3a\u65ad\u306e\u304d\u3063\u304b\u3051\u306b\u306a\u308a\u307e\u3059\u3002\u7121\u8679\u5f69\u75c7\u306f<a href=\"https:\/\/www.nanbyou.or.jp\/entry\/5453\" target=\"_blank\" rel=\"noopener\">\u96e3\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/a>\u304c\u6307\u5b9a\u96e3\u75c5329\u3068\u3057\u3066\u63b2\u8f09\u3057\u3066\u304a\u308a\u3001\u767a\u75c7\u983b\u5ea6\u306f\u304a\u3088\u305d10\u4e07\u4eba\u306b1\u4eba\u3068\u3055\u308c\u308b\u5e0c\u5c11\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u7121\u8679\u5f69(\u3080\u3053\u3046\u3055\u3044):<br>\u8336\u76ee(\u8679\u5f69)\u306e\u90e8\u5206\u304c\u751f\u307e\u308c\u3064\u304d\u6b20\u640d\u3057\u3066\u3044\u307e\u3059\u3002\u8679\u5f69\u306f\u30ab\u30e1\u30e9\u306e\u300c\u7d5e\u308a\u300d\u306e\u5f79\u5272\u3092\u3057\u3066\u3044\u308b\u305f\u3081\u3001\u5149\u306e\u91cf\u3092\u8abf\u7bc0\u3067\u304d\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li>\u7f9e\u660e(\u3057\u3085\u3046\u3081\u3044):<br>\u5149\u306e\u8abf\u7bc0\u304c\u3067\u304d\u306a\u3044\u305f\u3081\u3001\u307e\u3076\u3057\u3055\u3092\u5f37\u304f\u611f\u3058\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8996\u529b\u4f4e\u4e0b\u30fb\u773c\u632f:<br>\u773c\u306e\u5965(\u7db2\u819c\u306e\u4e2d\u5fc3\u7aa9)\u306e\u767a\u9054\u304c\u672a\u719f\u306a\u3053\u3068\u304c\u591a\u304f\u3001\u8996\u529b\u304c\u51fa\u306b\u304f\u3044(\u5f31\u8996)\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002\u307e\u305f\u3001\u76ee\u304c\u5c0f\u523b\u307f\u306b\u63fa\u308c\u308b\u300c\u773c\u632f(\u304c\u3093\u3057\u3093)\u300d\u3084\u3001\u659c\u8996\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5408\u4f75\u75c7:<br>\u767d\u5185\u969c(\u6c34\u6676\u4f53\u306e\u6fc1\u308a)\u3084\u7dd1\u5185\u969c(\u773c\u5727\u304c\u4e0a\u304c\u308b)\u3092\u767a\u75c7\u3059\u308b\u30ea\u30b9\u30af\u304c\u9ad8\u3044\u305f\u3081\u3001\u5b9a\u671f\u7684\u306a\u773c\u79d1\u691c\u8a3a\u304c\u5fc5\u9808\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"W_Wilms_tumor%E3%82%A6%E3%82%A3%E3%83%AB%E3%83%A0%E3%82%B9%E8%85%AB%E7%98%8D\"><\/span><strong>W: Wilms tumor(\u30a6\u30a3\u30eb\u30e0\u30b9\u816b\u760d)<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3054\u5bb6\u65cf\u304c\u6700\u3082\u5fc3\u914d\u3055\u308c\u308b\u70b9\u304b\u3068\u601d\u3044\u307e\u3059\u3002\u30a6\u30a3\u30eb\u30e0\u30b9\u816b\u760d\u306f\u3001\u5b50\u4f9b\u306e\u814e\u81d3\u306b\u3067\u304d\u308b\u60aa\u6027\u816b\u760d(\u304c\u3093)\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u767a\u75c7\u30ea\u30b9\u30af:<\/strong> <a href=\"https:\/\/grj.umin.jp\/grj\/wtp.htm\" target=\"_blank\" rel=\"noopener\">GeneReviews japan(\u65e5\u672c\u8a9e\u7248)<\/a>\u306b\u3088\u308b\u3068\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/wagr-syndrome-11p13\/\">WAGR\u75c7\u5019\u7fa4<\/a>\u306e\u304a\u5b50\u69d8\u306e\u7d0445\u301c60%\u306b\u767a\u75c7\u3059\u308b\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u767a\u75c7\u6642\u671f:<\/strong> \u767a\u75c7\u306e90%\u306f4\u6b73\u307e\u3067\u306b\u300198%\u306f7\u6b73\u307e\u3067\u306b\u8d77\u3053\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u30017\u301c8\u6b73\u3092\u904e\u304e\u3066\u304b\u3089\u306e\u767a\u75c7\u4f8b\u3082\u307e\u308c\u306b\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4e88\u5f8c:<\/strong> \u6016\u3044\u75c5\u6c17\u3067\u3059\u304c\u3001\u816b\u760d\u306e\u7d44\u7e54\u578b\u3084\u75c5\u671f\u306b\u3088\u3063\u3066\u5dee\u306f\u3042\u308b\u3082\u306e\u306e\u3001<strong>\u65e9\u671f\u306b\u767a\u898b\u3067\u304d\u308c\u3070\u624b\u8853\u3084\u6297\u304c\u3093\u5264\u6cbb\u7642\u306b\u3088\u3063\u3066\u591a\u304f\u304c\u6cbb\u7652\u3059\u308b(\u52a9\u304b\u308b)\u75c5\u6c17<\/strong>\u3067\u3059\u3002\n<ul class=\"wp-block-list\">\n<li>\u305d\u306e\u305f\u3081\u3001\u300c\u5b9a\u671f\u7684\u306a\u691c\u67fb\u3067\u65e9\u671f\u767a\u898b\u3059\u308b\u3053\u3068\u300d\u304c\u547d\u3092\u5b88\u308b\u9375\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"G_Genitourinary_anomalies%E6%B3%8C%E5%B0%BF%E7%94%9F%E6%AE%96%E5%99%A8%E5%A5%87%E5%BD%A2\"><\/span><strong>G: Genitourinary anomalies(\u6ccc\u5c3f\u751f\u6b96\u5668\u5947\u5f62)<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u814e\u81d3\u3084\u6027\u5668\u306e\u5f62\u6210\u306b\u7279\u5fb4\u304c\u51fa\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u7279\u306b\u7537\u306e\u5b50\u3067\u76ee\u7acb\u3061\u3084\u3059\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7537\u5150:<\/strong> \u505c\u7559\u7cbe\u5de3(\u7cbe\u5de3\u304c\u9670\u56a2\u306b\u964d\u308a\u3066\u304d\u3066\u3044\u306a\u3044)\u3001\u5c3f\u9053\u4e0b\u88c2(\u5c3f\u9053\u306e\u51fa\u53e3\u304c\u305a\u308c\u3066\u3044\u308b)\u3001\u9670\u830e\u304c\u5c0f\u3055\u3044\u306a\u3069\u3002<\/li>\n\n\n\n<li><strong>\u5973\u5150:<\/strong> \u5916\u898b\u3067\u306f\u5206\u304b\u308a\u306b\u304f\u3044\u3067\u3059\u304c\u3001\u6027\u817a(\u5375\u5de3)\u306e\u767a\u9054\u304c\u672a\u719f\u306a\u300c\u7dda\u72b6\u6027\u817a\u300d\u3084\u5b50\u5bae\u306e\u5f62\u6210\u7570\u5e38\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u307e\u308c\u306b\u6027\u817a\u816b\u760d\u306e\u30ea\u30b9\u30af\u3092\u4f34\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u814e\u81d3:<\/strong> \u814e\u81d3\u306e\u6a5f\u80fd\u304c\u4f4e\u4e0b\u3059\u308b(\u6162\u6027\u814e\u81d3\u75c5)\u30ea\u30b9\u30af\u304c\u3042\u308b\u305f\u3081\u3001\u9577\u671f\u9593\u306e\u30d5\u30a9\u30ed\u30fc\u304c\u5fc5\u8981\u3067\u3059\u3002\u8a73\u3057\u304f\u306f\u5f8c\u8ff0\u306e\u300c\u814e\u6a5f\u80fd\u306e\u4fdd\u8b77\u300d\u3067\u89e3\u8aac\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"R_Range_of_developmental_delays%E7%99%BA%E9%81%94%E3%81%AE%E9%81%85%E3%82%8C%E3%83%BB%E7%9F%A5%E7%9A%84%E9%9A%9C%E5%AE%B3\"><\/span><strong>R: Range of developmental delays(\u767a\u9054\u306e\u9045\u308c\u30fb\u77e5\u7684\u969c\u5bb3)<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u306e\u7a0b\u5ea6\u306f\u3001\u304a\u5b50\u69d8\u306b\u3088\u3063\u3066\u5927\u304d\u304f\u7570\u306a\u308a\u307e\u3059\u3002<\/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>:<br>\u8efd\u5ea6\u304b\u3089\u91cd\u5ea6\u307e\u3067\u500b\u4eba\u5dee\u304c\u3042\u308a\u3001\u591a\u304f\u306f\u8efd\u5ea6\u304b\u3089\u4e2d\u7b49\u5ea6\u306e\u7bc4\u56f2\u306b\u53ce\u307e\u308b\u3068\u3055\u308c\u3001\u6b63\u5e38\u306b\u8fd1\u3044\u77e5\u80fd\u3092\u793a\u3059\u65b9\u3082\u3044\u307e\u3059\u3002\u6b20\u5931\u3057\u3066\u3044\u308b\u7bc4\u56f2\u304c\u5e83\u3044\u307b\u3069\u3001\u767a\u9054\u3078\u306e\u5f71\u97ff\u304c\u5927\u304d\u304f\u306a\u308b\u50be\u5411\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u767a\u9054\u7279\u6027:<br><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7<\/a>(ASD)\u3084ADHD(\u6ce8\u610f\u6b20\u5982\u30fb\u591a\u52d5\u75c7)\u306a\u3069\u306e\u7279\u6027\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u305d\u306e\u4ed6:<br>\u7761\u7720\u969c\u5bb3\u3084\u3001\u611f\u899a\u904e\u654f(\u7279\u306b\u8074\u899a\u3084\u89e6\u899a)\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-microdeletion-intellectual-disability\/\">\u67d3\u8272\u4f53\u306e\u5fae\u5c0f\u306a\u7570\u5e38\u3068\u77e5\u7684\u969c\u5bb3\u306e\u95a2\u4fc2\u3092\u6574\u7406\u3057\u305f\u8a18\u4e8b<\/a>\u3082\u3042\u308f\u305b\u3066\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"O_Obesity%E8%82%A5%E6%BA%80\"><\/span><strong>O: Obesity(\u80a5\u6e80)<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8fd1\u5e74\u6ce8\u76ee\u3055\u308c\u3066\u3044\u308b\u75c7\u72b6\u3067\u3059\u300211p13\u9818\u57df\u306e\u3059\u3050\u8fd1\u304f\u306b\u3042\u308bBDNF\u907a\u4f1d\u5b50\u307e\u3067\u6b20\u5931\u304c\u53ca\u3093\u3067\u3044\u308b\u5834\u5408\u3001\u6e80\u8179\u3092\u611f\u3058\u306b\u304f\u304f\u306a\u308a(\u904e\u98df\u30fb\u591a\u98df)\u3001\u91cd\u5ea6\u306e\u80a5\u6e80\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u3092\u300c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/wagro-syndrome\/\">WAGRO\u75c7\u5019\u7fa4<\/a>\u300d\u3068\u547c\u3076\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6d77\u5916\u306e\u767b\u9332\u30c7\u30fc\u30bf\u3067\u306f\u3001\u5168\u4f53\u306e\u7d04\u534a\u6570\u306b\u80a5\u6e80\u304c\u307f\u3089\u308c\u3001\u591a\u304f\u306f10\u6b73\u9803\u307e\u3067\u306b\u4f53\u91cd\u5897\u52a0\u304c\u59cb\u307e\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002BDNF\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u304c\u306a\u3044\u5834\u5408\u306f\u3001\u80a5\u6e80\u306e\u983b\u5ea6\u306f\u4e0b\u304c\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%82%88%E3%81%8F%E4%BC%BC%E3%81%9F%E5%90%8D%E5%89%8D%E3%81%AE%E7%97%85%E6%B0%97%E3%80%8C11p112%E6%AC%A0%E5%A4%B1%E7%97%87%E5%80%99%E7%BE%A4%E3%83%9D%E3%83%88%E3%83%83%E3%82%AD%E3%83%BB%E3%82%B7%E3%82%A7%E3%82%A4%E3%83%95%E3%82%A1%E3%83%BC%E7%97%87%E5%80%99%E7%BE%A4%E3%80%8D%E3%81%A8%E3%81%AE%E9%81%95%E3%81%84\"><\/span><strong>\u3088\u304f\u4f3c\u305f\u540d\u524d\u306e\u75c5\u6c17\u300c11p11.2\u6b20\u5931\u75c7\u5019\u7fa4(\u30dd\u30c8\u30c3\u30ad\u30fb\u30b7\u30a7\u30a4\u30d5\u30a1\u30fc\u75c7\u5019\u7fa4)\u300d\u3068\u306e\u9055\u3044<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u540c\u305811\u756a\u67d3\u8272\u4f53\u77ed\u8155(11p)\u306b\u8d77\u3053\u308b\u6b20\u5931\u3067\u3082\u3001\u533a\u753b\u306e\u4f4d\u7f6e\u304c\u7570\u306a\u308b\u3068\u5168\u304f\u5225\u306e\u75c5\u6c17\u306b\u306a\u308a\u307e\u3059\u3002<\/strong>\u6df7\u540c\u3057\u3084\u3059\u30442\u3064\u306e\u75be\u60a3\u306e\u9055\u3044\u3092\u6574\u7406\u3057\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<figure class=\"wp-block-table\"><table><thead><tr><th>\u6bd4\u8f03\u9805\u76ee<\/th><th><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/wagr-syndrome-11p13\/\">WAGR\u75c7\u5019\u7fa4<\/a>(\u672c\u8a18\u4e8b\u30fb11p13\u6b20\u5931)<\/th><th>\u30dd\u30c8\u30c3\u30ad\u30fb\u30b7\u30a7\u30a4\u30d5\u30a1\u30fc\u75c7\u5019\u7fa4(11p11.2\u6b20\u5931)<\/th><\/tr><\/thead><tbody><tr><td>\u4e3b\u306a\u539f\u56e0\u907a\u4f1d\u5b50<\/td><td>PAX6\u30fbWT1<\/td><td>EXT2\u30fbALX4\u30fbPHF21A<\/td><\/tr><tr><td>\u4ee3\u8868\u7684\u306a\u75c7\u72b6<\/td><td>\u7121\u8679\u5f69\u30fb\u30a6\u30a3\u30eb\u30e0\u30b9\u816b\u760d\u30fb\u6ccc\u5c3f\u751f\u6b96\u5668\u7570\u5e38\u30fb\u767a\u9054\u306e\u9045\u308c<\/td><td>\u591a\u767a\u6027\u5916\u9aa8\u816b\u30fb\u982d\u9802\u5b54\u958b\u5b58\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a><\/td><\/tr><tr><td>\u304c\u3093\u306e\u30ea\u30b9\u30af<\/td><td>\u30a6\u30a3\u30eb\u30e0\u30b9\u816b\u760d(\u7d0445\u301c60%)<\/td><td>\u901a\u5e38\u306f\u76ee\u7acb\u305f\u306a\u3044<\/td><\/tr><tr><td>\u773c\u306e\u75c7\u72b6<\/td><td>\u7121\u8679\u5f69\u304c\u4ee3\u8868\u7684\u6240\u898b<\/td><td>\u901a\u5e38\u306f\u4f34\u308f\u306a\u3044<\/td><\/tr><\/tbody><\/table><figcaption>GeneReviews\u30fbMedlinePlus Genetics\u306e\u8a18\u8f09\u3092\u3082\u3068\u306b\u4f5c\u6210<\/figcaption><\/figure>\n\n\n\n<p>\u3069\u3061\u3089\u3082\u300c\u96a3\u63a5\u907a\u4f1d\u5b50\u75c7\u5019\u7fa4\u300d\u3068\u3044\u3046\u6210\u308a\u7acb\u3061\u306f\u5171\u901a\u3057\u3066\u3044\u307e\u3059\u304c\u3001\u6b20\u3051\u3066\u3044\u308b\u907a\u4f1d\u5b50\u304c\u307e\u3063\u305f\u304f\u7570\u306a\u308b\u305f\u3081\u3001\u75c7\u72b6\u306e\u7d44\u307f\u5408\u308f\u305b\u3082\u7ba1\u7406\u65b9\u91dd\u3082\u5225\u7269\u3067\u3059\u3002\u8a73\u3057\u304f\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-11p11-2-deletion-potocki-shaffer-syndrome-guide\/\">11p11.2\u6b20\u5931\u75c7\u5019\u7fa4(\u30dd\u30c8\u30c3\u30ad\u30fb\u30b7\u30a7\u30a4\u30d5\u30a1\u30fc\u75c7\u5019\u7fa4)\u3092\u89e3\u8aac\u3057\u305f\u8a18\u4e8b<\/a>\u3092\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%8E%9F%E5%9B%A0%EF%BC%9A%E3%81%AA%E3%81%9C%E8%B5%B7%E3%81%8D%E3%81%9F%E3%81%AE%E3%81%8B\"><\/span><strong>\u539f\u56e0\uff1a\u306a\u305c\u8d77\u304d\u305f\u306e\u304b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u3054\u5bb6\u65cf\u304c\u300c\u306a\u305c\u300d\u3068\u60a9\u307f\u3001\u6642\u306b\u3054\u81ea\u8eab\u3092\u8cac\u3081\u3066\u3057\u307e\u3046\u306e\u304c\u539f\u56e0\u306b\u3064\u3044\u3066\u3067\u3059\u3002\u3057\u304b\u3057\u3001\u58f0\u3092\u5927\u306b\u3057\u3066\u304a\u4f1d\u3048\u3057\u305f\u3044\u306e\u306f\u3001\u300c\u3054\u4e21\u89aa\u306e\u80b2\u3066\u65b9\u3084\u598a\u5a20\u4e2d\u306e\u904e\u3054\u3057\u65b9\u304c\u539f\u56e0\u3067\u306f\u306a\u3044\u300d\u3068\u3044\u3046\u3053\u3068\u3067\u3059\u3002<\/strong><\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E7%AA%81%E7%84%B6%E5%A4%89%E7%95%B0de_novo%E5%A4%89%E7%95%B0\"><\/span><strong>1. \u7a81\u7136\u5909\u7570(de novo\u5909\u7570)<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>11p13\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u5927\u591a\u6570\u306f\u3001\u300cde novo(\u30c7\u30fb\u30ce\u30dc)\u300d\u3068\u547c\u3070\u308c\u308b\u7a81\u7136\u5909\u7570\u3067\u8d77\u3053\u308a\u307e\u3059\u3002\u7cbe\u5b50\u3084\u5375\u5b50\u304c\u4f5c\u3089\u308c\u308b\u904e\u7a0b\u3001\u3042\u308b\u3044\u306f\u53d7\u7cbe\u5f8c\u306e\u7d30\u80de\u5206\u88c2\u306e\u975e\u5e38\u306b\u65e9\u3044\u6bb5\u968e\u3067\u3001\u5076\u7136\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u5207\u308c\u3066\u306a\u304f\u306a\u3063\u3066\u3057\u307e\u3063\u305f\u3082\u306e\u3067\u3059\u3002\u8ab0\u306b\u3067\u3082\u8d77\u3053\u308a\u3046\u308b\u3001\u81ea\u7136\u306e\u78ba\u7387\u7684\u306a\u73fe\u8c61\u3067\u3042\u308a\u3001\u9632\u3050\u3053\u3068\u306f\u73fe\u4ee3\u306e\u533b\u5b66\u3067\u306f\u4e0d\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E8%A6%AA%E3%81%AE%E6%9F%93%E8%89%B2%E4%BD%93%E8%BB%A2%E5%BA%A7%E3%81%BE%E3%82%8C%E3%81%AA%E3%82%B1%E3%83%BC%E3%82%B9\"><\/span><strong>2. \u89aa\u306e\u67d3\u8272\u4f53\u8ee2\u5ea7(\u307e\u308c\u306a\u30b1\u30fc\u30b9)<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3054\u304f\u4e00\u90e8\u306e\u30b1\u30fc\u30b9\u3067\u306f\u3001\u3054\u4e21\u89aa\u306e\u3069\u3061\u3089\u304b\u304c\u300c\u5747\u8861\u578b\u8ee2\u5ea7\u300d\u3084\u300c\u633f\u5165\u300d\u3068\u3044\u3063\u305f\u67d3\u8272\u4f53\u306e\u30bf\u30a4\u30d7\u3092\u6301\u3063\u3066\u3044\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5747\u8861\u578b\u8ee2\u5ea7:<\/strong> \u67d3\u8272\u4f53\u306e\u5834\u6240\u304c\u5165\u308c\u66ff\u308f\u3063\u3066\u3044\u308b\u3060\u3051\u3067\u3001\u907a\u4f1d\u60c5\u5831\u306e\u91cf\u306f\u5909\u308f\u3089\u306a\u3044\u305f\u3081\u3001\u89aa\u5fa1\u3055\u3093\u81ea\u8eab\u306f\u5065\u5eb7\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u3057\u304b\u3057\u3001\u304a\u5b50\u69d8\u306b\u67d3\u8272\u4f53\u3092\u53d7\u3051\u6e21\u3059\u969b\u306b\u3001\u30d0\u30e9\u30f3\u30b9\u304c\u5d29\u308c\u3066\u300c\u4e0d\u5747\u8861(\u6b20\u5931)\u300d\u304c\u751f\u3058\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u6b21\u306e\u304a\u5b50\u69d8\u3092\u8003\u3048\u3066\u3044\u308b\u5834\u5408\u306a\u3069\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u78ba\u8a8d\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u304c\u6b63\u5e38\u306ade novo\u5909\u7570\u3067\u3042\u308c\u3070\u3001\u6b21\u306e\u304a\u5b50\u69d8\u304c\u540c\u3058\u75c5\u6c17\u306b\u306a\u308b\u78ba\u7387\u306f\u4e00\u822c\u7684\u306b1%\u672a\u6e80\u3068\u4f4e\u3044\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u305f\u3060\u3057\u3001\u3054\u304f\u307e\u308c\u306b\u89aa\u306e\u751f\u6b96\u7d30\u80de\u306e\u4e00\u90e8\u306b\u3060\u3051\u5909\u7570\u304c\u6df7\u5728\u3059\u308b\u300c\u6027\u817a<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mosaicism\/\">\u30e2\u30b6\u30a4\u30af<\/a>\u300d\u306e\u53ef\u80fd\u6027\u304c\u3042\u308b\u305f\u3081\u3001\u78ba\u7387\u306f\u4e00\u822c\u96c6\u56e3\u3088\u308a\u308f\u305a\u304b\u306b\u9ad8\u304f\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%A8%BA%E6%96%AD%E3%81%A8%E6%A4%9C%E6%9F%BB\"><\/span><strong>\u8a3a\u65ad\u3068\u691c\u67fb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u901a\u5e38\u3001\u751f\u307e\u308c\u305f\u6642\u306e\u300c\u7121\u8679\u5f69\u75c7\u300d\u3092\u304d\u3063\u304b\u3051\u306b\u773c\u79d1\u533b\u3084\u5c0f\u5150\u79d1\u533b\u304c\u7591\u3044\u3092\u6301\u3061\u3001\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u3092\u884c\u3046\u3053\u3068\u3067\u78ba\u5b9a\u8a3a\u65ad\u306b\u81f3\u308a\u307e\u3059\u3002<\/strong><\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E6%9F%93%E8%89%B2%E4%BD%93%E6%A4%9C%E6%9F%BBG%E5%88%86%E6%9F%93%E6%B3%95%E3%83%BBFISH%E6%B3%95%E3%83%BB%E3%83%9E%E3%82%A4%E3%82%AF%E3%83%AD%E3%82%A2%E3%83%AC%E3%82%A4\"><\/span><strong>1. \u67d3\u8272\u4f53\u691c\u67fb(G\u5206\u67d3\u6cd5\u30fbFISH\u6cd5\u30fb\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4)<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>G\u5206\u67d3\u6cd5:<\/strong> \u9855\u5fae\u93e1\u3067\u898b\u308b\u57fa\u672c\u7684\u306a\u691c\u67fb\u3067\u3059\u3002\u6b20\u5931\u304c\u5927\u304d\u3044\u5834\u5408\u306f\u3053\u308c\u3067\u898b\u3064\u304b\u308a\u307e\u3059\u304c\u3001\u5c0f\u3055\u3044\u5834\u5408\u306f\u898b\u9003\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>FISH\u6cd5:<\/strong> <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/wagr-syndrome-11p13\/\">WAGR\u75c7\u5019\u7fa4<\/a>\u304c\u7591\u308f\u308c\u308b\u5834\u5408\u306b\u3001\u7279\u5b9a\u306e\u30d7\u30ed\u30fc\u30d6(\u76ee\u5370)\u3092\u4f7f\u3063\u3066\u300111p13\u9818\u57df\u304c\u3042\u308b\u304b\u306a\u3044\u304b\u3092\u5149\u3089\u305b\u3066\u8abf\u3079\u308b\u691c\u67fb\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u67d3\u8272\u4f53\u691c\u67fb(CMA):<\/strong> \u73fe\u5728\u3001\u6700\u3082\u63a8\u5968\u3055\u308c\u308b\u691c\u67fb\u3067\u3059\u3002DNA\u30ec\u30d9\u30eb\u3067\u300c\u6b63\u78ba\u306b\u3069\u3053\u304b\u3089\u3069\u3053\u307e\u3067\u304c\u6b20\u3051\u3066\u3044\u308b\u304b\u300d\u3092\u7279\u5b9a\u3067\u304d\u3001<strong>BDNF\u907a\u4f1d\u5b50(\u80a5\u6e80\u95a2\u9023)\u304c\u542b\u307e\u308c\u3066\u3044\u308b\u304b\u3069\u3046\u304b<\/strong>\u307e\u3067\u78ba\u8a8d\u3067\u304d\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E8%85%B9%E9%83%A8%E8%B6%85%E9%9F%B3%E6%B3%A2%E3%82%A8%E3%82%B3%E3%83%BC%E6%A4%9C%E6%9F%BB\"><\/span><strong>2. \u8179\u90e8\u8d85\u97f3\u6ce2(\u30a8\u30b3\u30fc)\u691c\u67fb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8a3a\u65ad\u6642\u3001\u304a\u3088\u3073\u8a3a\u65ad\u5f8c\u306f\u5b9a\u671f\u7684\u306b\u884c\u3044\u307e\u3059\u3002\u30a6\u30a3\u30eb\u30e0\u30b9\u816b\u760d\u304c\u767a\u751f\u3057\u3066\u3044\u306a\u3044\u304b\u3001\u814e\u81d3\u3084\u6027\u5668\u306e\u5f62\u306b\u7570\u5e38\u304c\u306a\u3044\u304b\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E7%9C%BC%E7%A7%91%E6%A4%9C%E6%9F%BB\"><\/span><strong>3. \u773c\u79d1\u691c\u67fb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u7121\u8679\u5f69\u306e\u72b6\u614b\u3001\u8996\u529b\u3001\u767d\u5185\u969c\u3084\u7dd1\u5185\u969c\u306e\u6709\u7121\u3092\u8a73\u3057\u304f\u8abf\u3079\u307e\u3059\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%87%BA%E7%94%9F%E5%89%8D%E8%A8%BA%E6%96%AD%E3%83%BBNIPT%E3%81%A8%E3%81%AE%E9%96%A2%E4%BF%82\"><\/span><strong>\u51fa\u751f\u524d\u8a3a\u65ad\u30fbNIPT\u3068\u306e\u95a2\u4fc2<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/wagr-syndrome-11p13\/\">WAGR\u75c7\u5019\u7fa4<\/a>\u306f\u3001\u6a19\u6e96\u7684\u306aNIPT\u306e\u5bfe\u8c61\u306b\u306f\u542b\u307e\u308c\u305a\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u307e\u3067\u5bfe\u8c61\u3092\u5e83\u3052\u305f\u62e1\u5927\u691c\u67fb\u3067\u3082\u3001\u540d\u6307\u3057\u3067\u691c\u67fb\u5bfe\u8c61\u306b\u542b\u3080\u4f1a\u793e\u306f\u9650\u3089\u308c\u308b\u3054\u304f\u307e\u308c\u306a\u9818\u57df\u3067\u3059\u3002<\/strong><\/p>\n\n\n\n<p>\u4e00\u822c\u7684\u306a\u57fa\u672cNIPT\u304c\u8abf\u3079\u308b\u306e\u306f\u300121\u30fb18\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/patau-syndrome\/\">13\u30c8\u30ea\u30bd\u30df\u30fc<\/a>\u3068\u3044\u3046\u67d3\u8272\u4f53\u306e\u300c\u6570\u300d\u306e\u5909\u5316\u304c\u4e2d\u5fc3\u3067\u3059\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-202407001\/\">\u5fae\u5c0f\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u691c\u51fa\u306b\u3064\u3044\u3066\u306e\u8a18\u4e8b<\/a>\u3067\u89e3\u8aac\u3057\u3066\u3044\u308b\u901a\u308a\u3001\u3053\u3046\u3057\u305f\u6570\u306e\u5909\u5316\u3068\u300111p13\u6b20\u5931\u306e\u3088\u3046\u306a\u5c0f\u3055\u306a\u7bc4\u56f2\u306e\u5909\u5316\u3068\u3067\u306f\u3001\u691c\u51fa\u306e\u4ed5\u7d44\u307f\u3082\u7cbe\u5ea6\u3082\u7570\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u79c1\u305f\u3061\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30afNIPT\u306b\u3082\u3001\u300c\u62e1\u5927\u691c\u67fb\u3067\u805e\u3044\u305f\u3053\u3068\u306e\u306a\u3044\u75be\u60a3\u540d\u304c\u5019\u88dc\u306b\u6319\u304c\u3063\u305f\u3089\u3069\u3046\u3059\u308c\u3070\u3088\u3044\u304b\u300d\u3068\u3044\u3046\u3054\u76f8\u8ac7\u304c\u5bc4\u305b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u307e\u305a\u77e5\u3063\u3066\u3044\u305f\u3060\u304d\u305f\u3044\u306e\u306f\u3001<strong>NIPT\u306f\u3042\u304f\u307e\u3067\u975e\u78ba\u5b9a\u7684\u306a\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u691c\u67fb<\/strong>\u3060\u3068\u3044\u3046\u70b9\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u516c\u76ca\u793e\u56e3\u6cd5\u4eba\u65e5\u672c\u7523\u79d1\u5a66\u4eba\u79d1\u5b66\u4f1a\u306e<a href=\"https:\/\/www.jsog.or.jp\/news\/pdf\/NIPT_kaiteishishin.pdf\" target=\"_blank\" rel=\"noopener\">NIPT\u306b\u95a2\u3059\u308b\u6307\u91dd<\/a>\u3067\u3082\u3001NIPT\u306e\u7d50\u679c\u306f\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0(\u975e\u78ba\u5b9a\u7684)\u691c\u67fb\u306e\u7bc4\u56f2\u306b\u3068\u3069\u307e\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u78ba\u5b9a\u8a3a\u65ad\u306b\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u306a\u3069\u306e\u4fb5\u8972\u7684\u306a\u691c\u67fb\u304c\u5fc5\u8981\u3067\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u306f\u5bfe\u8c61\u7bc4\u56f2\u304c\u5e83\u304f\u306a\u308b\u307b\u3069\u3001\u967d\u6027\u3067\u3042\u3063\u3066\u3082\u5b9f\u969b\u306b\u75be\u60a3\u304c\u3042\u308b\u5272\u5408(\u967d\u6027\u7684\u4e2d\u7387)\u304c\u4e0b\u304c\u308a\u3084\u3059\u3044\u50be\u5411\u3082\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>NIPT\u306e\u62e1\u5927\u691c\u67fb\u3067<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u306e\u967d\u6027\u6240\u898b\u304c\u51fa\u305f\u5834\u5408\u306f\u3001\u307e\u305a\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u7d50\u679c\u306e\u610f\u5473\u3092\u78ba\u8a8d\u3057\u3001\u305d\u306e\u3046\u3048\u3067<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u306b\u3088\u308b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u691c\u67fb(CMA)\u3092\u53d7\u3051\u308b\u304b\u3069\u3046\u304b\u3092\u5224\u65ad\u3059\u308b\u3001\u3068\u3044\u3046\u9806\u756a\u306b\u306a\u308a\u307e\u3059\u3002\u3042\u308f\u3066\u3066\u7d50\u8ad6\u3092\u51fa\u3055\u305a\u3001\u5c02\u9580\u5bb6\u3068\u4e00\u7dd2\u306b\u4e00\u3064\u305a\u3064\u6574\u7406\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<div class=\"wp-block-buttons is-content-justification-center is-layout-flex wp-container-core-buttons-is-layout-16018d1d wp-block-buttons-is-layout-flex\">\n<div class=\"wp-block-button\"><a class=\"wp-block-button__link wp-element-button\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/line-registration\/\" target=\"_blank\" rel=\"noopener\">LINE\u3067\u7121\u6599\u76f8\u8ac7\u3059\u308b<\/a><\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%B2%BB%E7%99%82%E3%81%A8%E7%AE%A1%E7%90%86%EF%BC%9A%E3%81%93%E3%82%8C%E3%81%8B%E3%82%89%E3%81%AE%E3%83%AD%E3%83%BC%E3%83%89%E3%83%9E%E3%83%83%E3%83%97\"><\/span><strong>\u6cbb\u7642\u3068\u7ba1\u7406\uff1a\u3053\u308c\u304b\u3089\u306e\u30ed\u30fc\u30c9\u30de\u30c3\u30d7<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u5931\u308f\u308c\u305f\u67d3\u8272\u4f53\u3092\u5143\u306b\u623b\u3059\u6839\u672c\u6cbb\u7642\u306f\u3001\u73fe\u4ee3\u306e\u533b\u7642\u3067\u306f\u307e\u3060\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002\u3057\u304b\u3057\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/wagr-syndrome-11p13\/\">WAGR\u75c7\u5019\u7fa4<\/a>\u306f\u300c\u7ba1\u7406(\u30b5\u30fc\u30d9\u30a4\u30e9\u30f3\u30b9)\u300d\u304c\u975e\u5e38\u306b\u78ba\u7acb\u3055\u308c\u3066\u304a\u308a\u3001\u305d\u308c\u3092\u884c\u3046\u3053\u3068\u3067\u5065\u5eb7\u3092\u5b88\u308b\u3053\u3068\u304c\u3067\u304d\u308b\u75be\u60a3\u3067\u3059\u3002<\/strong><\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E3%82%A6%E3%82%A3%E3%83%AB%E3%83%A0%E3%82%B9%E8%85%AB%E7%98%8D%E3%81%AE%E7%9B%A3%E8%A6%96%E6%9C%80%E9%87%8D%E8%A6%81\"><\/span><strong>1. \u30a6\u30a3\u30eb\u30e0\u30b9\u816b\u760d\u306e\u76e3\u8996(\u6700\u91cd\u8981)<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3053\u308c\u306f\u547d\u3092\u5b88\u308b\u305f\u3081\u306b\u7d76\u5bfe\u306b\u5b88\u3063\u3066\u3044\u305f\u3060\u304d\u305f\u3044\u3053\u3068\u3067\u3059\u3002\u30a6\u30a3\u30eb\u30e0\u30b9\u816b\u760d\u306f\u9032\u884c\u304c\u65e9\u3044\u305f\u3081\u3001\u65e9\u671f\u767a\u898b\u304c\u30ab\u30ae\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u691c\u67fb\u983b\u5ea6:<\/strong> <strong>3\u30f6\u6708\u306b1\u56de\u306e\u8179\u90e8\u8d85\u97f3\u6ce2(\u30a8\u30b3\u30fc)\u691c\u67fb<\/strong><\/li>\n\n\n\n<li><strong>\u671f\u9593:<\/strong> \u8a3a\u65ad\u78ba\u5b9a\u6642\u304b\u3089<strong>8\u6b73\u9803\u307e\u3067<\/strong>\u3092\u76ee\u5b89\u306b\u7d99\u7d9a\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u306a\u305c3\u30f6\u6708\u304b:<\/strong> \u816b\u760d\u304c\u3067\u304d\u3066\u304b\u3089\u5927\u304d\u304f\u306a\u308b\u307e\u3067\u306e\u30b9\u30d4\u30fc\u30c9\u3092\u8003\u616e\u3057\u3001\u624b\u9045\u308c\u306b\u306a\u3089\u306a\u3044\u9593\u9694\u3068\u3057\u3066\u8a2d\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>8\u6b73\u4ee5\u964d:<\/strong> \u767a\u75c7\u306e90%\u306f4\u6b73\u307e\u3067\u306b\u300198%\u306f7\u6b73\u307e\u3067\u306b\u8d77\u3053\u308b\u3068\u3055\u308c\u30018\u6b73\u3092\u904e\u304e\u308b\u3068\u65b0\u898f\u767a\u75c7\u306e\u30ea\u30b9\u30af\u306f\u5927\u304d\u304f\u4e0b\u304c\u308a\u307e\u3059\u3002\u305f\u3060\u3057\u3001\u307e\u308c\u306b8\u6b73\u4ee5\u964d\u306e\u767a\u75c7\u4f8b\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u305f\u3081\u3001\u305d\u306e\u5f8c\u306e\u7d4c\u904e\u89b3\u5bdf\u306e\u8981\u5426\u3084\u983b\u5ea6\u306f\u81ea\u5df1\u5224\u65ad\u305b\u305a\u3001\u5fc5\u305a\u4e3b\u6cbb\u533b\u3068\u76f8\u8ac7\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/li>\n\n\n\n<li>\u3082\u3057\u816b\u760d\u304c\u898b\u3064\u304b\u3063\u305f\u5834\u5408\u306f\u3001\u624b\u8853\u3084\u5316\u5b66\u7642\u6cd5\u3092\u884c\u3044\u307e\u3059\u304c\u3001\u65e9\u671f\u3067\u3042\u308c\u3070\u4e88\u5f8c\u306f\u826f\u597d\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E8%85%8E%E6%A9%9F%E8%83%BD%E3%81%AE%E4%BF%9D%E8%AD%B7\"><\/span><strong>2. \u814e\u6a5f\u80fd\u306e\u4fdd\u8b77<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u816b\u760d\u304c\u306a\u304f\u3066\u3082\u3001\u814e\u81d3\u306e\u6a5f\u80fd\u304c\u5f90\u3005\u306b\u4f4e\u4e0b\u3059\u308b\u30ea\u30b9\u30af\u304c\u3042\u308a\u307e\u3059\u3002<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK621298\/\" target=\"_blank\" rel=\"noopener\">GeneReviews\u300cWAGR Spectrum Disorder\u300d<\/a>\u306e\u767b\u9332\u30c7\u30fc\u30bf\u3067\u306f\u3001\u30bf\u30f3\u30d1\u30af\u5c3f\u30fb\u814e\u7d50\u77f3\u30fb\u6162\u6027\u814e\u81d3\u75c5\u30fb\u5de3\u72b6\u5206\u7bc0\u6027\u7cf8\u7403\u4f53\u786c\u5316\u75c7(FSGS)\u3068\u3044\u3063\u305f\u814e\u81d3\u95a2\u9023\u306e\u554f\u984c\u304c\u5168\u4f53\u306e\u534a\u6570\u4ee5\u4e0a\u306b\u5831\u544a\u3055\u308c\u3001FSGS\u306f\u7d0419%\u306b\u898b\u3089\u308c\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u5b66\u7ae5\u671f\u4ee5\u964d\u3001\u7279\u306b12\u6b73\u3092\u904e\u304e\u308b\u3068\u814e\u4e0d\u5168\u306e\u30ea\u30b9\u30af\u304c\u9ad8\u307e\u308b\u50be\u5411\u304c\u6307\u6458\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5b9a\u671f\u691c\u67fb:<\/strong> \u5c3f\u691c\u67fb(\u30bf\u30f3\u30d1\u30af\u5c3f\u304c\u51fa\u3066\u3044\u306a\u3044\u304b)\u3001\u8840\u5727\u6e2c\u5b9a\u3001\u8840\u6db2\u691c\u67fb(\u814e\u6a5f\u80fd)\u3092\u3001\u5c11\u306a\u304f\u3068\u3082\u5e741\u56de\u306f\u884c\u3046\u3053\u3068\u304c\u63a8\u5968\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u751f\u6d3b:<\/strong> \u5869\u5206\u3092\u63a7\u3048\u308b\u306a\u3069\u306e\u98df\u4e8b\u7ba1\u7406\u304c\u6709\u52b9\u306a\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>ACE\u963b\u5bb3\u85ac:<\/strong> \u30bf\u30f3\u30d1\u30af\u5c3f\u304c\u51fa\u59cb\u3081\u305f\u5834\u5408\u3001\u814e\u81d3\u3092\u5b88\u308b\u85ac\u3092\u4f7f\u7528\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E7%9C%BC%E7%A7%91%E7%9A%84%E3%82%B1%E3%82%A2\"><\/span><strong>3. \u773c\u79d1\u7684\u30b1\u30a2<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u906e\u5149\u773c\u93e1:<\/strong> \u307e\u3076\u3057\u3055\u3092\u9632\u3050\u305f\u3081\u3001\u5916\u51fa\u6642\u306f\u30b5\u30f3\u30b0\u30e9\u30b9\u3084\u5e3d\u5b50\u3092\u4f7f\u7528\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5b9a\u671f\u691c\u8a3a:<\/strong> \u7dd1\u5185\u969c(\u773c\u5727\u4e0a\u6607)\u306f\u81ea\u899a\u75c7\u72b6\u304c\u306a\u3044\u307e\u307e\u9032\u884c\u3059\u308b\u3053\u3068\u304c\u3042\u308b\u305f\u3081\u3001\u6570\u30f6\u6708\u306b\u4e00\u5ea6\u306e\u773c\u79d1\u30c1\u30a7\u30c3\u30af\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8996\u899a\u652f\u63f4:<\/strong> \u5f31\u8996\u304c\u3042\u308b\u5834\u5408\u3001\u62e1\u5927\u8aad\u66f8\u5668\u3084\u30bf\u30d6\u30ec\u30c3\u30c8\u7aef\u672b\u3001\u5358\u773c\u93e1\u306a\u3069\u306e\u88dc\u52a9\u5177\u3092\u4f7f\u3063\u3066\u300c\u898b\u308b\u529b\u300d\u3092\u30b5\u30dd\u30fc\u30c8\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E7%99%82%E8%82%B2%E3%83%8F%E3%83%93%E3%83%AA%E3%83%86%E3%83%BC%E3%82%B7%E3%83%A7%E3%83%B3\"><\/span><strong>4. \u7642\u80b2(\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3)<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u767a\u9054\u306e\u9045\u308c\u306b\u5bfe\u3057\u3066\u3001\u65e9\u671f\u304b\u3089\u306e\u30b5\u30dd\u30fc\u30c8\u3092\u884c\u3044\u307e\u3059\u3002\u6cbb\u7642\u306e\u8ef8\u3068\u306a\u308b\u306e\u306f\u3001\u816b\u760d\u30fb\u814e\u81d3\u306e\u5b9a\u671f\u691c\u67fb\u3068\u3001\u65e9\u671f\u304b\u3089\u306e\u7642\u80b2\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7406\u5b66\u7642\u6cd5(PT):<\/strong> \u4f53\u5e79\u3092\u935b\u3048\u3001\u904b\u52d5\u767a\u9054\u3092\u4fc3\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4f5c\u696d\u7642\u6cd5(OT):<\/strong> \u624b\u5148\u306e\u4e0d\u5668\u7528\u3055\u3092\u6539\u5584\u3057\u3001\u751f\u6d3b\u52d5\u4f5c\u3092\u7df4\u7fd2\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u8074\u899a\u7642\u6cd5(ST):<\/strong> \u8a00\u8449\u306e\u9045\u308c\u306b\u5bfe\u3057\u3066\u30a2\u30d7\u30ed\u30fc\u30c1\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8996\u899a\u969c\u5bb3\u3078\u306e\u914d\u616e:<\/strong> \u76ee\u304c\u898b\u3048\u306b\u304f\u3044\u3053\u3068\u3092\u8003\u616e\u3057\u305f\u7642\u80b2(\u30b3\u30f3\u30c8\u30e9\u30b9\u30c8\u306e\u306f\u3063\u304d\u308a\u3057\u305f\u304a\u3082\u3061\u3083\u3092\u4f7f\u3046\u3001\u97f3\u3084\u89e6\u899a\u3092\u6d3b\u7528\u3059\u308b\u306a\u3069)\u304c\u5fc5\u8981\u3067\u3059\u3002\u76f2\u5b66\u6821\u306e\u300c\u4e73\u5e7c\u5150\u76f8\u8ac7(\u6559\u80b2\u76f8\u8ac7)\u300d\u3092\u5229\u7528\u3059\u308b\u306e\u3082\u6709\u52b9\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"5_%E8%82%A5%E6%BA%80%E5%AF%BE%E7%AD%96WAGRO%E3%81%AE%E5%A0%B4%E5%90%88\"><\/span><strong>5. \u80a5\u6e80\u5bfe\u7b56(WAGRO\u306e\u5834\u5408)<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>BDNF\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u304c\u3042\u308b\u5834\u5408\u3001\u6e80\u8179\u611f\u3092\u611f\u3058\u306b\u304f\u3044\u305f\u3081\u3001\u98df\u4e8b\u5236\u9650\u304c\u975e\u5e38\u306b\u96e3\u3057\u304f\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u74b0\u5883\u8abf\u6574:<\/strong> \u98df\u3079\u7269\u3092\u76ee\u306b\u3064\u304f\u5834\u6240\u306b\u7f6e\u304b\u306a\u3044\u3001\u9375\u306e\u304b\u304b\u308b\u68da\u306b\u3057\u307e\u3046\u306a\u3069\u306e\u7269\u7406\u7684\u306a\u5bfe\u7b56\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30ab\u30ed\u30ea\u30fc\u7ba1\u7406:<\/strong> \u6804\u990a\u58eb\u3068\u76f8\u8ac7\u3057\u3001\u4f4e\u30ab\u30ed\u30ea\u30fc\u3067\u6e80\u8db3\u611f\u306e\u3042\u308b\u98df\u4e8b\u3092\u5de5\u592b\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"640\" height=\"480\" src=\"\/nipt\/wp-content\/uploads\/2025\/10\/32744813_s.webp\" alt=\"\u533b\u7642\" class=\"wp-image-118638\"\/><\/figure><\/div>\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%97%A5%E3%80%85%E3%81%AE%E7%94%9F%E6%B4%BB%E3%81%A7%E3%81%AE%E5%B7%A5%E5%A4%AB\"><\/span><strong>\u65e5\u3005\u306e\u751f\u6d3b\u3067\u306e\u5de5\u592b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>11p13\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u304a\u5b50\u69d8\u3068\u306e\u751f\u6d3b\u3067\u3001\u30d2\u30f3\u30c8\u306b\u306a\u308b\u30dd\u30a4\u30f3\u30c8\u3092\u307e\u3068\u3081\u307e\u3057\u305f\u3002<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u300c\u307e\u3076\u3057\u3055\u300d\u3078\u306e\u7406\u89e3:<br>\u304a\u5b50\u69d8\u304c\u5916\u306b\u51fa\u308b\u306e\u3092\u5acc\u304c\u3063\u305f\u308a\u3001\u4e0d\u6a5f\u5acc\u306b\u306a\u3063\u305f\u308a\u3059\u308b\u5834\u5408\u3001\u300c\u307e\u3076\u3057\u3044\u300d\u306e\u304c\u539f\u56e0\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002\u30b5\u30f3\u30b0\u30e9\u30b9\u3092\u304b\u3051\u305f\u308a\u3001\u65e5\u9670\u3092\u9078\u3093\u3067\u6b69\u3044\u305f\u308a\u3059\u308b\u3060\u3051\u3067\u3001\u6a5f\u5acc\u304c\u826f\u304f\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>3\u30f6\u6708\u3054\u3068\u306e\u30a8\u30b3\u30fc\u3092\u7fd2\u6163\u306b:<br>\u300c3\u30f6\u6708\u306b1\u56de\u75c5\u9662\u306b\u884c\u304f\u300d\u3053\u3068\u306f\u5927\u5909\u3067\u3059\u304c\u3001\u300c\u5143\u6c17\u3067\u3042\u308b\u3053\u3068\u3092\u78ba\u8a8d\u3059\u308b\u30a4\u30d9\u30f3\u30c8\u300d\u3068\u3057\u3066\u3001\u7d42\u308f\u3063\u305f\u3089\u516c\u5712\u306b\u884c\u304f\u306a\u3069\u306e\u304a\u697d\u3057\u307f\u3092\u4f5c\u308a\u3001\u30dd\u30b8\u30c6\u30a3\u30d6\u306a\u30eb\u30fc\u30c6\u30a3\u30f3\u306b\u3057\u307e\u3057\u3087\u3046\u3002<\/li>\n\n\n\n<li>\u30b9\u30e2\u30fc\u30eb\u30b9\u30c6\u30c3\u30d7:<br>\u8996\u529b\u304c\u5f31\u3044\u3068\u3001\u904b\u52d5\u3084\u6a21\u5023(\u307e\u306d\u3063\u3053)\u304c\u96e3\u3057\u304f\u306a\u308a\u304c\u3061\u3067\u3059\u3002\u5468\u308a\u306e\u5b50\u3068\u6bd4\u3079\u305a\u3001\u300c\u6628\u65e5\u306e\u3053\u306e\u5b50\u300d\u3068\u6bd4\u3079\u3066\u304f\u3060\u3055\u3044\u3002\u624b\u3067\u89e6\u3089\u305b\u3066\u6559\u3048\u308b\u306a\u3069\u3001\u305d\u306e\u5b50\u306b\u5408\u3063\u305f\u5b66\u3073\u65b9\u3092\u898b\u3064\u3051\u307e\u3057\u3087\u3046\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u79c1\u81ea\u8eab\u3001\u5916\u6765\u3067\u3053\u3046\u3057\u305f\u5e0c\u5c11\u306a\u67d3\u8272\u4f53\u75be\u60a3\u306e\u304a\u5b50\u69d8\u3092\u6301\u3064\u3054\u5bb6\u65cf\u304b\u3089\u3001\u300c\u816b\u760d\u306e\u691c\u67fb\u3092\u6016\u304c\u3063\u3066\u5acc\u304c\u308b\u300d\u3068\u3044\u3046\u3054\u76f8\u8ac7\u3092\u53d7\u3051\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u30a8\u30b3\u30fc\u5f8c\u306b\u3054\u8912\u7f8e\u306e\u30b7\u30fc\u30eb\u3092\u6e21\u3059\u3001\u597d\u304d\u306a\u52d5\u753b\u3092\u898b\u305b\u306a\u304c\u3089\u691c\u67fb\u3059\u308b\u306a\u3069\u3001\u305d\u306e\u5b50\u306b\u5408\u3063\u305f\u5de5\u592b\u3092\u898b\u3064\u3051\u3066\u3044\u308b\u3054\u5bb6\u65cf\u304c\u591a\u3044\u3068\u3044\u3046\u5370\u8c61\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\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%8FFAQ\"><\/span><strong>\u3088\u304f\u3042\u308b\u8cea\u554f(FAQ)<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%AF%BF%E5%91%BD%E3%81%AB%E5%BD%B1%E9%9F%BF%E3%81%AF%E3%81%82%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u5bff\u547d\u306b\u5f71\u97ff\u306f\u3042\u308a\u307e\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u9069\u5207\u306a\u816b\u760d\u306e\u76e3\u8996\u3068\u814e\u81d3\u306e\u7ba1\u7406\u304c\u884c\u308f\u308c\u3066\u3044\u308c\u3070\u3001\u9577\u671f\u751f\u5b58\u304c\u53ef\u80fd\u3067\u3042\u308a\u3001\u6210\u4eba\u3057\u3066\u751f\u6d3b\u3057\u3066\u3044\u308b\u65b9\u3082\u305f\u304f\u3055\u3093\u3044\u3089\u3063\u3057\u3083\u3044\u307e\u3059\u3002\u9375\u3068\u306a\u308b\u306e\u306f\u3001\u3084\u306f\u308a\u30a6\u30a3\u30eb\u30e0\u30b9\u816b\u760d\u306e\u65e9\u671f\u767a\u898b\u3068\u3001\u6162\u6027\u814e\u81d3\u75c5\u306e\u7ba1\u7406\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%9F%A5%E7%9A%84%E9%9A%9C%E5%AE%B3%E3%81%AF%E5%BF%85%E3%81%9A%E3%81%82%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u77e5\u7684\u969c\u5bb3\u306f\u5fc5\u305a\u3042\u308a\u307e\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5fc5\u305a\u3057\u3082\u4f34\u3046\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u591a\u304f\u306f\u8efd\u5ea6\u304b\u3089\u4e2d\u7b49\u5ea6\u306e\u7bc4\u56f2\u3068\u3055\u308c\u3001\u6b63\u5e38\u306b\u8fd1\u3044\u77e5\u80fd\u3092\u793a\u3059\u65b9\u3082\u3044\u307e\u3059\u3002\u6b20\u5931\u3057\u3066\u3044\u308b\u7bc4\u56f2\u304c\u5e83\u3044\u307b\u3069\u767a\u9054\u3078\u306e\u5f71\u97ff\u304c\u5927\u304d\u304f\u306a\u308b\u50be\u5411\u304c\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001\u8996\u899a\u969c\u5bb3\u306e\u5f71\u97ff\u3067\u767a\u9054\u691c\u67fb\u306e\u6570\u5024\u304c\u4f4e\u304f\u51fa\u3066\u3044\u308b\u53ef\u80fd\u6027\u3082\u3042\u308b\u305f\u3081\u3001\u8996\u899a\u306b\u914d\u616e\u3057\u305f\u8a55\u4fa1\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%82%A6%E3%82%A3%E3%83%AB%E3%83%A0%E3%82%B9%E8%85%AB%E7%98%8D%E3%81%AE%E7%99%BA%E7%97%87%E3%83%AA%E3%82%B9%E3%82%AF%E3%81%AF%E3%81%A9%E3%81%AE%E3%81%8F%E3%82%89%E3%81%84%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u30a6\u30a3\u30eb\u30e0\u30b9\u816b\u760d\u306e\u767a\u75c7\u30ea\u30b9\u30af\u306f\u3069\u306e\u304f\u3089\u3044\u3067\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6d77\u5916\u306e\u6587\u732e\u3067\u306f\u7d0445\u301c60%\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u767a\u75c7\u306e90%\u306f4\u6b73\u307e\u3067\u306b\u300198%\u306f7\u6b73\u307e\u3067\u306b\u8d77\u3053\u308b\u3068\u3055\u308c\u307e\u3059\u304c\u3001\u307e\u308c\u306b7\u301c8\u6b73\u4ee5\u964d\u306e\u767a\u75c7\u4f8b\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u305f\u3081\u3001\u5b9a\u671f\u7684\u306a\u8179\u90e8\u30a8\u30b3\u30fc\u691c\u67fb\u306e\u7d99\u7d9a\u304c\u91cd\u8981\u3067\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%AB%E9%81%BA%E4%BC%9D%E3%81%97%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u6b21\u306e\u5b50\u306b\u907a\u4f1d\u3057\u307e\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u89aa\u5fa1\u3055\u3093\u306e\u67d3\u8272\u4f53\u304c\u6b63\u5e38\u306ade novo\u5909\u7570\u3067\u3042\u308c\u3070\u3001\u6b21\u306e\u304a\u5b50\u69d8\u304c\u540c\u3058\u75c5\u6c17\u306b\u306a\u308b\u78ba\u7387\u306f\u4e00\u822c\u7684\u306b1%\u672a\u6e80\u3068\u4f4e\u3044\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u305f\u3060\u3057\u3001\u3054\u304f\u307e\u308c\u306b\u89aa\u306e\u751f\u6b96\u7d30\u80de\u306b\u5909\u7570\u304c\u6df7\u5728\u3059\u308b\u300c\u6027\u817a<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mosaicism\/\">\u30e2\u30b6\u30a4\u30af<\/a>\u300d\u306e\u53ef\u80fd\u6027\u304c\u3042\u308b\u305f\u3081\u4e00\u822c\u96c6\u56e3\u3088\u308a\u308f\u305a\u304b\u306b\u9ad8\u304f\u3001\u89aa\u5fa1\u3055\u3093\u304c\u5747\u8861\u578b\u8ee2\u5ea7\u3092\u6301\u3063\u3066\u3044\u308b\u5834\u5408\u306f\u78ba\u7387\u304c\u5909\u308f\u308a\u307e\u3059\u3002\u5fc3\u914d\u306a\u5834\u5408\u306f\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3092\u3054\u5229\u7528\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%93%E3%81%AE%E7%97%85%E6%B0%97%E3%81%AFNIPT%E3%81%A7%E3%82%8F%E3%81%8B%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u3053\u306e\u75c5\u6c17\u306fNIPT\u3067\u308f\u304b\u308a\u307e\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6a19\u6e96\u7684\u306aNIPT\u306e\u5bfe\u8c61\u306b\u306f\u901a\u5e38\u542b\u307e\u308c\u307e\u305b\u3093\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u307e\u3067\u5bfe\u8c61\u3092\u5e83\u3052\u305f\u62e1\u5927\u691c\u67fb\u3067\u3082\u5bfe\u5fdc\u306f\u691c\u67fb\u4f1a\u793e\u306b\u3088\u308a\u7570\u306a\u308a\u3001\u967d\u6027\u6240\u898b\u304c\u51fa\u305f\u5834\u5408\u3082\u975e\u78ba\u5b9a\u7684\u306a\u7d50\u679c\u306e\u305f\u3081\u3001\u78ba\u5b9a\u8a3a\u65ad\u306b\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u306a\u3069\u306b\u3088\u308b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u691c\u67fb(CMA)\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%80%8C11p112%E6%AC%A0%E5%A4%B1%E7%97%87%E5%80%99%E7%BE%A4%E3%83%9D%E3%83%88%E3%83%83%E3%82%AD%E3%83%BB%E3%82%B7%E3%82%A7%E3%82%A4%E3%83%95%E3%82%A1%E3%83%BC%E7%97%87%E5%80%99%E7%BE%A4%E3%80%8D%E3%81%A8%E5%90%8C%E3%81%98%E7%97%85%E6%B0%97%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u300c11p11.2\u6b20\u5931\u75c7\u5019\u7fa4(\u30dd\u30c8\u30c3\u30ad\u30fb\u30b7\u30a7\u30a4\u30d5\u30a1\u30fc\u75c7\u5019\u7fa4)\u300d\u3068\u540c\u3058\u75c5\u6c17\u3067\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5225\u306e\u75c5\u6c17\u3067\u3059\u3002\u3069\u3061\u3089\u308211\u756a\u67d3\u8272\u4f53\u77ed\u8155\u306b\u8d77\u3053\u308b\u96a3\u63a5\u907a\u4f1d\u5b50\u75c7\u5019\u7fa4\u3067\u3059\u304c\u3001\u6b20\u5931\u3057\u3066\u3044\u308b\u533a\u753b(13\u756a\u304bp11.2\u756a\u304b)\u3068\u539f\u56e0\u907a\u4f1d\u5b50(PAX6\u30fbWT1\u304b\u3001EXT2\u30fbALX4\u30fbPHF21A\u304b)\u304c\u7570\u306a\u308a\u3001\u75c7\u72b6\u306e\u7d44\u307f\u5408\u308f\u305b\u3082\u7570\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%BE%E3%81%A8%E3%82%81\"><\/span><strong>\u307e\u3068\u3081<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u3053\u3053\u307e\u3067\u306e\u91cd\u8981\u30dd\u30a4\u30f3\u30c8\u3092\u632f\u308a\u8fd4\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li>11p13\u6b20\u5931\u75c7\u5019\u7fa4(<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/wagr-syndrome-11p13\/\">WAGR\u75c7\u5019\u7fa4<\/a>)\u306f\u3001\u7121\u8679\u5f69\u3001\u30a6\u30a3\u30eb\u30e0\u30b9\u816b\u760d\u30ea\u30b9\u30af\u3001\u6ccc\u5c3f\u751f\u6b96\u5668\u7570\u5e38\u3001\u767a\u9054\u9045\u6ede\u3092\u7279\u5fb4\u3068\u3059\u308b\u75be\u60a3\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u539f\u56e0<\/strong>\u306f\u3001PAX6\u907a\u4f1d\u5b50\u3068WT1\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u3067\u3001\u5927\u591a\u6570\u306fde novo\u5909\u7570\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6700\u91cd\u8981\u4e8b\u9805<\/strong>\u306f\u3001\u30a6\u30a3\u30eb\u30e0\u30b9\u816b\u760d\u306e\u65e9\u671f\u767a\u898b\u306e\u305f\u3081\u3001<strong>8\u6b73\u9803\u307e\u30673\u30f6\u6708\u3054\u3068\u306e\u8179\u90e8\u30a8\u30b3\u30fc\u691c\u67fb<\/strong>\u3092\u53d7\u3051\u308b\u3053\u3068\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u773c\u306e\u30b1\u30a2<\/strong>\u3068\u3057\u3066\u3001\u307e\u3076\u3057\u3055\u5bfe\u7b56\u3068\u7dd1\u5185\u969c\u306e\u5b9a\u671f\u30c1\u30a7\u30c3\u30af\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7642\u80b2<\/strong>\u3067\u306f\u3001\u8996\u899a\u969c\u5bb3\u306b\u914d\u616e\u3057\u305f\u30a2\u30d7\u30ed\u30fc\u30c1\u304c\u6210\u9577\u3092\u52a9\u3051\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u4f3c\u305f\u540d\u524d\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-11p11-2-deletion-potocki-shaffer-syndrome-guide\/\">11p11.2\u6b20\u5931\u75c7\u5019\u7fa4(\u30dd\u30c8\u30c3\u30ad\u30fb\u30b7\u30a7\u30a4\u30d5\u30a1\u30fc\u75c7\u5019\u7fa4)<\/a>\u3068\u306f\u3001\u6b20\u5931\u90e8\u4f4d\u3082\u539f\u56e0\u907a\u4f1d\u5b50\u3082\u7570\u306a\u308b\u5225\u306e\u75c5\u6c17\u3067\u3059\u3002<\/li>\n<\/ol>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%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%EF%BC%9A%E7%9F%A5%E8%AD%98%E3%81%AF%E5%B8%8C%E6%9C%9B%E3%81%AB%E3%81%AA%E3%82%8A%E3%81%BE%E3%81%99\"><\/span><strong>\u5bb6\u65cf\u3078\u306e\u30e1\u30c3\u30bb\u30fc\u30b8\uff1a\u77e5\u8b58\u306f\u5e0c\u671b\u306b\u306a\u308a\u307e\u3059<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u8a3a\u65ad\u540d\u3092\u805e\u3044\u305f\u76f4\u5f8c\u3001\u3054\u5bb6\u65cf\u306f\u300c\u816b\u760d\u300d\u3084\u300c\u76ee\u304c\u898b\u3048\u306b\u304f\u3044\u300d\u3068\u3044\u3046\u4e8b\u5b9f\u306b\u3001\u5927\u304d\u306a\u6050\u6016\u3068\u60b2\u3057\u307f\u3092\u611f\u3058\u3066\u3044\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002\u300c\u3069\u3046\u3057\u3066\u3053\u306e\u5b50\u304c\u300d\u3068\u3001\u7b54\u3048\u306e\u306a\u3044\u554f\u3044\u306b\u82e6\u3057\u3080\u591c\u3082\u3042\u308b\u3067\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/wagr-syndrome-11p13\/\">WAGR\u75c7\u5019\u7fa4<\/a>\u306f\u3001\u533b\u5b66\u7684\u306a\u7ba1\u7406\u6cd5\u304c\u78ba\u7acb\u3055\u308c\u3066\u3044\u308b\u75c5\u6c17\u3067\u3059\u3002\u300c3\u30f6\u6708\u306b1\u56de\u306e\u30a8\u30b3\u30fc\u300d\u3068\u3044\u3046\u30eb\u30fc\u30eb\u3092\u5b88\u308b\u3053\u3068\u3067\u3001\u304a\u5b50\u69d8\u306e\u547d\u3092\u5b88\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u300c\u307e\u3076\u3057\u304c\u308a\u300d\u3078\u306e\u5bfe\u7b56\u3092\u77e5\u308b\u3053\u3068\u3067\u3001\u304a\u5b50\u69d8\u306e\u4e16\u754c\u3092\u5feb\u9069\u306b\u3057\u3066\u3042\u3052\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6b63\u3057\u3044\u77e5\u8b58\u3092\u6301\u3064\u3053\u3068\u306f\u3001\u6f20\u7136\u3068\u3057\u305f\u4e0d\u5b89\u3092\u6d88\u3057\u3001\u304a\u5b50\u69d8\u3092\u5b88\u308b\u305f\u3081\u306e\u5f37\u529b\u306a\u6b66\u5668\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/wagr-syndrome-11p13\/\">WAGR\u75c7\u5019\u7fa4<\/a>\u306e\u304a\u5b50\u69d8\u305f\u3061\u306f\u3001\u76ee\u306f\u898b\u3048\u306b\u304f\u304f\u3066\u3082\u3001\u92ed\u3044\u8074\u899a\u3084\u8c4a\u304b\u306a\u611f\u6027\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u3002\u97f3\u697d\u304c\u5927\u597d\u304d\u3060\u3063\u305f\u308a\u3001\u8a18\u61b6\u529b\u304c\u629c\u7fa4\u306b\u826f\u304b\u3063\u305f\u308a\u3001\u4eba\u61d0\u3063\u3053\u3044\u7b11\u9854\u3067\u5468\u308a\u3092\u660e\u308b\u304f\u3057\u305f\u308a\u3002\u75c5\u6c17\u306f\u3042\u304f\u307e\u3067\u305d\u306e\u5b50\u306e\u4e00\u90e8\u3067\u3042\u308a\u3001\u3059\u3079\u3066\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u4e00\u4eba\u3067\u62b1\u3048\u8fbc\u307e\u306a\u3044\u3067\u304f\u3060\u3055\u3044\u3002\u6d77\u5916\u306b\u306f\u300cInternational WAGR Syndrome Association\u300d\u3068\u3044\u3046\u60a3\u8005\u4f1a\u304c\u3042\u308a\u3001\u65e5\u672c\u306b\u3082<a href=\"https:\/\/sites.google.com\/view\/wagr-japan\/medical_iwsa-1\/wagr%E7%97%87%E5%80%99%E7%BE%A4%E3%81%A3%E3%81%A6%E4%BD%95\" target=\"_blank\" rel=\"noopener\">\u65e5\u672cWAGR\u75c7\u5019\u7fa4\u306e\u4f1a<\/a>\u3068\u3044\u3046\u60a3\u8005\u30fb\u5bb6\u65cf\u306e\u30b3\u30df\u30e5\u30cb\u30c6\u30a3\u304c\u5b58\u5728\u3057\u307e\u3059\u3002\u304d\u3087\u3046\u3060\u3044\u306e\u30b1\u30a2\u3082\u5927\u5207\u306a\u8996\u70b9\u3067\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-family-support-sibling-care-mental-health\/\">\u304d\u3087\u3046\u3060\u3044\u5150\u306e\u30b1\u30a2\u306b\u3064\u3044\u3066\u307e\u3068\u3081\u305f\u8a18\u4e8b<\/a>\u3082\u3042\u308f\u305b\u3066\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<p>\u533b\u5e2b\u3001\u770b\u8b77\u5e2b\u3001\u8996\u80fd\u8a13\u7df4\u58eb\u3001\u7642\u6cd5\u58eb\u3002\u3042\u306a\u305f\u306e\u5468\u308a\u306b\u306f\u3001\u304a\u5b50\u69d8\u3092\u652f\u3048\u308b\u300c\u30c1\u30fc\u30e0\u300d\u3092\u4f5c\u308b\u305f\u3081\u306e\u5c02\u9580\u5bb6\u304c\u3044\u307e\u3059\u3002\u5206\u304b\u3089\u306a\u3044\u3053\u3068\u306f\u805e\u304d\u3001\u8f9b\u3044\u6642\u306f\u5410\u304d\u51fa\u3057\u3001\u5468\u308a\u3092\u983c\u3063\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<p>\u7126\u3089\u305a\u3001\u4e00\u65e5\u4e00\u65e5\u3092\u5927\u5207\u306b\u3002\u304a\u5b50\u69d8\u306e\u7b11\u9854\u3092\u5b88\u308b\u305f\u3081\u306b\u3001\u4eca\u65e5\u3067\u304d\u308b\u30b1\u30a2\u3092\u4e00\u3064\u305a\u3064\u7a4d\u307f\u91cd\u306d\u3066\u3044\u304d\u307e\u3057\u3087\u3046\u3002\u79c1\u305f\u3061\u3082\u3001\u305d\u306e\u6b69\u307f\u3092\u5fdc\u63f4\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4ed6\u306e\u67d3\u8272\u4f53\u75be\u60a3\u306b\u3064\u3044\u3066\u6c17\u306b\u306a\u308b\u65b9\u306f\u3001\u3042\u308f\u305b\u3066\u3054\u78ba\u8a8d\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/chromosome-11p11-2-deletion-potocki-shaffer-syndrome-guide\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">11p11.2\u6b20\u5931\u75c7\u5019\u7fa4\uff08\u30dd\u30c8\u30c3\u30ad\u30fb\u30b7\u30a7\u30a4\u30d5\u30a1\u30fc\u75c7\u5019\u7fa4\uff09 <\/div>\n          <div class=\"blog-card-excerpt\">\u67d3\u8272\u4f5311p11.2\u6b20\u5931\u75c7\u5019\u7fa4\uff08\u30dd\u30c8\u30c3\u30ad\u30fb\u30b7\u30a7\u30a4\u30d5\u30a1\u30fc\u75c7\u5019\u7fa4\uff09\u3068\u8a3a\u65ad\u3055\u308c\u305f\u3054\u5bb6\u65cf\u3078\u3002\u3053\u306e\u75be\u60a3\u306e\u4e09\u5927\u7279\u5fb4\u3067\u3042\u308b\u591a\u767a\u6027\u5916\u9aa8\u816b\u3001\u982d\u9802\u5b54\uff08\u982d\u84cb\u9aa8\u306e\u7a74...<\/div>\n      <\/div>\n    <\/a>\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<p>\u51fa\u751f\u524d\u691c\u67fb\u5168\u822c\u306b\u3064\u3044\u3066\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/down-syndrome-pregnancy-risk-test\/\">\u51fa\u751f\u524d\u691c\u67fb\u3068\u67d3\u8272\u4f53\u7570\u5e38\u306e\u30ea\u30b9\u30af\u3092\u6574\u7406\u3057\u305f\u8a18\u4e8b<\/a>\u3082\u3042\u308f\u305b\u3066\u3054\u53c2\u7167\u304f\u3060\u3055\u3044\u3002\u6b21\u306e\u304a\u5b50\u69d8\u306b\u5411\u3051\u3066NIPT\u3092\u691c\u8a0e\u3059\u308b\u5834\u5408\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u3092\u3069\u3053\u307e\u3067\u5bfe\u8c61\u306b\u542b\u3080\u304b\u3067\u30d7\u30e9\u30f3\u306e\u5185\u5bb9\u304c\u5909\u308f\u308a\u307e\u3059\u3002\u3054\u81ea\u8eab\u306b\u5408\u3046\u30d7\u30e9\u30f3\u304c\u5206\u304b\u3089\u306a\u3044\u5834\u5408\u306f\u3001<strong><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/plan-finder\/\">\u30d7\u30e9\u30f3\u8a3a\u65ad<\/a><\/strong>\u3092\u8a66\u3057\u3066\u307f\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<div class=\"wp-block-buttons 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u306e\u60c5\u5831\u3092\u767a\u4fe1\u3057\u3066\u3044\u307e\u3059\u3002\u672c\u8a18\u4e8b\u306fGeneReviews(\u7c73\u56fd\u56fd\u7acb\u533b\u5b66\u56f3\u66f8\u9928)\u30fb\u96e3\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc\u30fb\u5c0f\u5150\u6162\u6027\u7279\u5b9a\u75be\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc\u30fb\u65e5\u672c<a 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