{"id":123173,"date":"2026-01-16T11:13:08","date_gmt":"2026-01-16T02:13:08","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=123173"},"modified":"2026-07-29T06:00:47","modified_gmt":"2026-07-28T21:00:47","slug":"gand-syndrome-guide","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/gand-syndrome-guide\/","title":{"rendered":"GAND\u75c7\u5019\u7fa4\uff08GATAD2B\u95a2\u9023\u795e\u7d4c\u767a\u9054\u969c\u5bb3\uff09"},"content":{"rendered":"\n<p><strong>GAND\u75c7\u5019\u7fa4\u306f\u3001GATAD2B\u907a\u4f1d\u5b50\u306e\u65b0\u751f\u7a81\u7136\u5909\u7570\u306b\u3088\u3063\u3066\u8d77\u3053\u308b\u795e\u7d4c\u767a\u9054\u75c7\u5019\u7fa4\u3067\u3059\u3002<\/strong><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3084\u8a00\u8449\u306e\u767a\u9054\u306e\u9045\u308c\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7<\/a>\u306b\u4f3c\u305f\u884c\u52d5\u3092\u7279\u5fb4\u3068\u3057\u30012013\u5e74\u306b\u521d\u3081\u3066\u75c7\u4f8b\u304c\u307e\u3068\u307e\u3063\u3066\u5831\u544a\u3055\u308c\u305f\u6bd4\u8f03\u7684\u65b0\u3057\u3044\u75be\u60a3\u6982\u5ff5\u3067\u3059\u3002\u533b\u5e2b\u304b\u3089GAND\u75c7\u5019\u7fa4\u3001\u3042\u308b\u3044\u306fGATAD2B\u95a2\u9023\u795e\u7d4c\u767a\u9054\u969c\u5bb3\u3068\u3044\u3046\u805e\u304d\u6163\u308c\u306a\u3044\u8a3a\u65ad\u540d\u3092\u544a\u3052\u3089\u308c\u3001\u60c5\u5831\u3092\u6c42\u3081\u3066\u3053\u306e\u30da\u30fc\u30b8\u306b\u8fbf\u308a\u7740\u304b\u308c\u305f\u3054\u5bb6\u65cf\u306e\u65b9\u3082\u591a\u3044\u306e\u3067\u306f\u306a\u3044\u3067\u3057\u3087\u3046\u304b\u3002<\/p>\n\n\n\n<p>\u9a5a\u304d\u3068\u3068\u3082\u306b\u3001\u3053\u308c\u304b\u3089\u3069\u306e\u3088\u3046\u306a\u6210\u9577\u3092\u305f\u3069\u308b\u306e\u304b\u3001\u3069\u3046\u652f\u3048\u3066\u3044\u3051\u3070\u3088\u3044\u306e\u304b\u3068\u3044\u3046\u4e0d\u5b89\u306e\u4e2d\u306b\u3044\u3089\u3063\u3057\u3083\u308b\u3053\u3068\u3068\u601d\u3044\u307e\u3059\u3002\u4e16\u754c\u3067\u306e\u5831\u544a\u4f8b\u306f\u307e\u3060100\u4f8b\u306b\u5c4a\u304b\u306a\u3044\u5e0c\u5c11\u75be\u60a3\u3067\u3001\u65e5\u672c\u8a9e\u3067\u8aad\u3081\u308b\u8a73\u3057\u3044\u60c5\u5831\u3082\u9650\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u691c\u7d22\u3057\u3066\u3082\u82f1\u8a9e\u306e\u8ad6\u6587\u3070\u304b\u308a\u304c\u51fa\u3066\u304d\u3066\u3057\u307e\u3044\u3001\u5fc3\u7d30\u3055\u3092\u611f\u3058\u3066\u3044\u308b\u65b9\u3082\u3044\u308b\u3067\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u8a18\u4e8b\u3067\u306f\u3001\u6d77\u5916\u306e\u533b\u5b66\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u3084\u8ad6\u6587\u3001\u5f53\u4e8b\u8005\u652f\u63f4\u56e3\u4f53\u306e\u60c5\u5831\u3092\u3082\u3068\u306b\u3001\u539f\u56e0\u30fb\u75c7\u72b6\u30fb\u8a3a\u65ad\u30fb\u6cbb\u7642\u306e\u73fe\u72b6\u3092\u6574\u7406\u3057\u307e\u3059\u3002\u3042\u308f\u305b\u3066\u3001\u51fa\u751f\u524d\u306b\u884c\u3046\u65b0\u578b<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\u3068\u3053\u306e\u75c5\u6c17\u306e\u95a2\u4fc2\u3082\u3001\u6b63\u78ba\u306b\u304a\u4f1d\u3048\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<div class=\"info-box\" style=\"margin:1.5em 0;padding:1.2em 1.4em;background:#f3f8ff;border-left:5px solid #5b9bd5;border-radius:8px;\">\n<p style=\"font-weight:bold;margin-bottom:0.6em;\">\ud83d\udca1 \u3053\u306e\u8a18\u4e8b\u3067\u308f\u304b\u308b\u3053\u3068<\/p>\n<ul style=\"margin:0;padding-left:1.2em;\">\n<li>GAND\u75c7\u5019\u7fa4\u304c\u3069\u306e\u3088\u3046\u306a\u75c5\u6c17\u3067\u3001\u306a\u305c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3084\u8a00\u8449\u306e\u9045\u308c\u304c\u8d77\u3053\u308b\u306e\u304b<\/li>\n<li>\u539f\u56e0\u907a\u4f1d\u5b50GATAD2B\u3068NuRD\u8907\u5408\u4f53\u306e\u50cd\u304d<\/li>\n<li>\u307b\u3068\u3093\u3069\u306e\u5834\u5408\u3001\u89aa\u304b\u3089\u907a\u4f1d\u3059\u308b\u306e\u3067\u306f\u306a\u304f\u65b0\u751f\u7a81\u7136\u5909\u7570\u3067\u8d77\u3053\u308b\u7406\u7531<\/li>\n<li>CHD3\u30fbCHD4\u95a2\u9023\u75be\u60a3\u306a\u3069\u3001\u4f3c\u305f\u75be\u60a3\u7fa4\u3068\u306e\u9055\u3044<\/li>\n<li>\u3053\u306e\u75c5\u6c17\u304c\u6a19\u6e96\u7684\u306aNIPT\uff08\u65b0\u578b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\uff09\u306e\u5bfe\u8c61\u306b\u542b\u307e\u308c\u306a\u3044\u7406\u7531<\/li>\n<li>\u3088\u304f\u3042\u308b\u8cea\u554f\u3068\u3001\u516c\u7684\u306a\u76f8\u8ac7\u5148\u30fb\u60c5\u5831\u6e90<\/li>\n<\/ul>\n<\/div>\n\n\n\n\n\n\n<div 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class=\"ez-toc-link ez-toc-heading-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/gand-syndrome-guide\/#%E6%B2%BB%E7%99%82%E3%81%A8%E7%AE%A1%E7%90%86\" >\u6cbb\u7642\u3068\u7ba1\u7406<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-15\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/gand-syndrome-guide\/#%E6%97%A9%E6%9C%9F%E7%99%82%E8%82%B2%E3%81%A8%E3%83%AA%E3%83%8F%E3%83%93%E3%83%AA%E3%83%86%E3%83%BC%E3%82%B7%E3%83%A7%E3%83%B3\" >\u65e9\u671f\u7642\u80b2\u3068\u30ea\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-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/gand-syndrome-guide\/#%E3%82%B3%E3%83%9F%E3%83%A5%E3%83%8B%E3%82%B1%E3%83%BC%E3%82%B7%E3%83%A7%E3%83%B3%E6%94%AF%E6%8F%B4\" >\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u652f\u63f4<\/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\/gand-syndrome-guide\/#%E5%8C%BB%E7%99%82%E7%9A%84%E3%81%AA%E7%AE%A1%E7%90%86%E3%81%A8%E6%95%99%E8%82%B2%E7%92%B0%E5%A2%83\" >\u533b\u7642\u7684\u306a\u7ba1\u7406\u3068\u6559\u80b2\u74b0\u5883<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-18\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/gand-syndrome-guide\/#NIPT%EF%BC%88%E6%96%B0%E5%9E%8B%E5%87%BA%E7%94%9F%E5%89%8D%E8%A8%BA%E6%96%AD%EF%BC%89%E3%81%A8%E3%81%AE%E9%96%A2%E4%BF%82\" >NIPT\uff08\u65b0\u578b\u51fa\u751f\u524d\u8a3a\u65ad\uff09\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-19\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/gand-syndrome-guide\/#%E3%82%88%E3%81%8F%E3%81%82%E3%82%8B%E8%B3%AA%E5%95%8F\" >\u3088\u304f\u3042\u308b\u8cea\u554f<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-20\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/gand-syndrome-guide\/#GAND%E7%97%87%E5%80%99%E7%BE%A4%E3%81%AF%E3%81%A9%E3%81%AE%E3%81%8F%E3%82%89%E3%81%84%E3%81%BE%E3%82%8C%E3%81%AA%E7%97%85%E6%B0%97%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\" >GAND\u75c7\u5019\u7fa4\u306f\u3069\u306e\u304f\u3089\u3044\u307e\u308c\u306a\u75c5\u6c17\u3067\u3059\u304b\u3002<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-21\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/gand-syndrome-guide\/#%E8%A6%AA%E3%81%8B%E3%82%89%E5%AD%90%E3%81%B8%E9%81%BA%E4%BC%9D%E3%81%97%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82%E6%AC%A1%E3%81%AE%E5%AD%90%E3%82%82%E7%99%BA%E7%97%87%E3%81%97%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >\u89aa\u304b\u3089\u5b50\u3078\u907a\u4f1d\u3057\u307e\u3059\u304b\u3002\u6b21\u306e\u5b50\u3082\u767a\u75c7\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-22\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/gand-syndrome-guide\/#%E5%A6%8A%E5%A8%A0%E4%B8%AD%E3%81%AENIPT%E3%81%A7GAND%E7%97%87%E5%80%99%E7%BE%A4%E3%81%AF%E5%88%86%E3%81%8B%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >\u598a\u5a20\u4e2d\u306eNIPT\u3067GAND\u75c7\u5019\u7fa4\u306f\u5206\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-23\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/gand-syndrome-guide\/#%E8%87%AA%E9%96%89%E3%82%B9%E3%83%9A%E3%82%AF%E3%83%88%E3%83%A9%E3%83%A0%E7%97%87%E3%81%A8%E3%81%AF%E9%81%95%E3%81%86%E7%97%85%E6%B0%97%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\" >\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\u3068\u306f\u9055\u3046\u75c5\u6c17\u3067\u3059\u304b\u3002<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-24\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/gand-syndrome-guide\/#%E6%B2%BB%E7%99%82%E6%B3%95%E3%81%AF%E3%81%82%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >\u6cbb\u7642\u6cd5\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-25\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/gand-syndrome-guide\/#%E3%81%A9%E3%81%93%E3%81%AB%E7%9B%B8%E8%AB%87%E3%81%99%E3%82%8C%E3%81%B0%E3%82%88%E3%81%84%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\" >\u3069\u3053\u306b\u76f8\u8ac7\u3059\u308c\u3070\u3088\u3044\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-26\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/gand-syndrome-guide\/#%E3%81%BE%E3%81%A8%E3%82%81\" >\u307e\u3068\u3081<\/a><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%A6%82%E8%A6%81%EF%BC%9A%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E7%97%85%E6%B0%97%E3%81%8B\"><\/span><strong>\u6982\u8981\uff1a\u3069\u306e\u3088\u3046\u306a\u75c5\u6c17\u304b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>GAND\u75c7\u5019\u7fa4\u306f\u3001GATAD2B\u907a\u4f1d\u5b50\u306e\u5909\u5316\u306b\u3088\u3063\u3066\u3001\u4e73\u5e7c\u5150\u671f\u304b\u3089\u77e5\u7684\u767a\u9054\u3084\u8a00\u8449\u306e\u7372\u5f97\u306b\u3086\u3063\u304f\u308a\u3068\u3057\u305f\u30da\u30fc\u30b9\u304c\u898b\u3089\u308c\u308b\u795e\u7d4c\u767a\u9054\u75c7\u5019\u7fa4\u3067\u3059\u3002<\/strong>\u6b63\u5f0f\u540d\u79f0\u306fGATAD2B\u95a2\u9023\u795e\u7d4c\u767a\u9054\u969c\u5bb3\uff08GATAD2B-associated neurodevelopmental disorder\uff09\u3068\u3044\u3044\u3001\u982d\u6587\u5b57\u3092\u3068\u3063\u3066GAND\uff08\u30ac\u30f3\u30c9\u307e\u305f\u306f\u30ae\u30e3\u30f3\u30c9\uff09\u75c7\u5019\u7fa4\u3068\u547c\u3070\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>2013\u5e74\u3001\u30aa\u30e9\u30f3\u30c0\u306e\u7814\u7a76\u30b0\u30eb\u30fc\u30d7\u304c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u306e\u3042\u308b\u60a3\u8005\u306e\u907a\u4f1d\u5b50\u89e3\u6790\u304b\u3089GATAD2B\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3092\u5831\u544a\u3057\u3001\u72ec\u7acb\u3057\u305f\u75be\u60a3\u3068\u3057\u3066\u8a8d\u8b58\u3055\u308c\u308b\u3088\u3046\u306b\u306a\u308a\u307e\u3057\u305f\uff08<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/23644463\/\" target=\"_blank\" rel=\"noopener\">Willemsen \u3089\u306e\u5831\u544a\u30fbPubMed<\/a>\uff09\u3002<\/p>\n\n\n\n<p>\u305d\u306e\u5f8c\u3001\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b5\u30fc\u306b\u3088\u308b\u7db2\u7f85\u7684\u306a\u907a\u4f1d\u5b50\u691c\u67fb\u304c\u666e\u53ca\u3059\u308b\u306b\u3064\u308c\u3066\u8a3a\u65ad\u4f8b\u304c\u5897\u3048\u307e\u3057\u305f\u30022020\u5e74\u306b\u767a\u8868\u3055\u308c\u305f50\u540d\u898f\u6a21\u306e\u56fd\u969b\u7684\u306a\u75c7\u4f8b\u7814\u7a76\u3067\u306f\u3001\u75c7\u72b6\u306e\u5168\u4f53\u50cf\u304c\u3088\u308a\u8a73\u3057\u304f\u660e\u3089\u304b\u306b\u306a\u3063\u3066\u3044\u307e\u3059\uff08<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/31949314\/\" target=\"_blank\" rel=\"noopener\">Genetics in Medicine\u8a8c\u30fbPubMed<\/a>\uff09\u3002<\/p>\n\n\n\n<p>\u4e16\u754c\u3067\u306e\u5831\u544a\u4f8b\u306f\u307e\u3060100\u4f8b\u306b\u6e80\u305f\u306a\u3044\u5e0c\u5c11\u75be\u60a3\u3067\u3059\u304c\u3001\u6c7a\u3057\u3066\u672a\u77e5\u306e\u75c5\u6c17\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u6d77\u5916\u3067\u306f\u5f53\u4e8b\u8005\u652f\u63f4\u56e3\u4f53\u3082\u8a2d\u7acb\u3055\u308c\u3001\u60c5\u5831\u4ea4\u63db\u3084\u7814\u7a76\u652f\u63f4\u306e\u8f2a\u304c\u5e83\u304c\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%B8%BB%E3%81%AA%E7%97%87%E7%8A%B6\"><\/span><strong>\u4e3b\u306a\u75c7\u72b6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>GAND\u75c7\u5019\u7fa4\u306e\u75c7\u72b6\u306f\u4e00\u4eba\u3072\u3068\u308a\u7570\u306a\u308a\u307e\u3059\u304c\u3001\u591a\u304f\u306e\u60a3\u8005\u3055\u3093\u306b\u5171\u901a\u3057\u3066\u898b\u3089\u308c\u308b\u7279\u5fb4\u7684\u306a\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/strong>\u3053\u3053\u3067\u306f\u4ee3\u8868\u7684\u306a\u75c7\u72b6\u3092\u90e8\u4f4d\u30fb\u9818\u57df\u3054\u3068\u306b\u89e3\u8aac\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%9F%A5%E7%9A%84%E7%99%BA%E9%81%94%E3%81%A8%E3%81%93%E3%81%A8%E3%81%B0%E3%81%AE%E7%89%B9%E5%BE%B4\"><\/span><strong>\u77e5\u7684\u767a\u9054\u3068\u3053\u3068\u3070\u306e\u7279\u5fb4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u307b\u3068\u3093\u3069\u306e\u60a3\u8005\u3055\u3093\u306b\u3001\u8efd\u5ea6\u304b\u3089\u91cd\u5ea6\u307e\u3067\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u304c\u898b\u3089\u308c\u307e\u3059\u3002\u7279\u306b\u8a00\u8449\u306e\u9762\u3067\u306e\u8ab2\u984c\u304c\u76ee\u7acb\u3061\u3001\u8a71\u3057\u59cb\u3081\u308b\u6642\u671f\u304c\u9045\u308c\u305f\u308a\u3001\u8a71\u305b\u308b\u5358\u8a9e\u306e\u6570\u304c\u5c11\u306a\u304b\u3063\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u80cc\u666f\u306b\u306f\u3001\u5c0f\u5150\u671f\u767a\u8a9e\u5931\u884c\u3068\u547c\u3070\u308c\u308b\u72b6\u614b\u304c\u95a2\u308f\u3063\u3066\u3044\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u982d\u306e\u4e2d\u3067\u306f\u8a00\u3044\u305f\u3044\u3053\u3068\u304c\u3042\u3063\u3066\u3082\u3001\u53e3\u3084\u820c\u3092\u52d5\u304b\u3057\u3066\u97f3\u306b\u3059\u308b\u305f\u3081\u306e\u6307\u4ee4\u304c\u3046\u307e\u304f\u4f1d\u308f\u3089\u306a\u3044\u72b6\u614b\u3067\u3059\u3002\u8a71\u3059\u529b\u306e\u4e4f\u3057\u3055\u306f\u3001\u7406\u89e3\u3059\u308b\u529b\u306e\u4e4f\u3057\u3055\u3068\u306f\u9055\u3044\u307e\u3059\u3002\u591a\u304f\u306e\u304a\u5b50\u3055\u3093\u306f\u3001\u81ea\u5206\u304c\u8a71\u305b\u308b\u4ee5\u4e0a\u306b\u5468\u56f2\u306e\u8a00\u8449\u3092\u3088\u304f\u7406\u89e3\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%87%AA%E9%96%89%E3%82%B9%E3%83%9A%E3%82%AF%E3%83%88%E3%83%A9%E3%83%A0%E7%97%87%E3%81%AB%E4%BC%BC%E3%81%9F%E8%A1%8C%E5%8B%95\"><\/span><strong>\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\u306b\u4f3c\u305f\u884c\u52d5<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>GAND\u75c7\u5019\u7fa4\u306e\u304a\u5b50\u3055\u3093\u306e\u4e00\u90e8\u306b\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7<\/a>\uff08ASD\uff09\u306b\u4f3c\u305f\u884c\u52d5\u304c\u898b\u3089\u308c\u307e\u3059\u3002\u7279\u5b9a\u306e\u7269\u4e8b\u3078\u306e\u5f37\u3044\u3053\u3060\u308f\u308a\u3001\u611f\u899a\u523a\u6fc0\u3078\u306e\u904e\u654f\u3055\u3001\u8996\u7dda\u3092\u5408\u308f\u305b\u306b\u304f\u3044\u3068\u3044\u3063\u305f\u7279\u5fb4\u3067\u3059\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-asd-facial-features-facts\/\">\u81ea\u9589\u75c7\uff08ASD\uff09\u306e\u9854\u3064\u304d\u3068\u7279\u5fb4<\/a>\u3067\u6271\u3046\u5185\u5bb9\u3068\u91cd\u306a\u308b\u90e8\u5206\u3082\u3042\u308a\u307e\u3059\u304c\u3001GAND\u75c7\u5019\u7fa4\u3067\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3068\u767a\u8a9e\u306e\u9045\u308c\u304c\u524d\u9762\u306b\u51fa\u3084\u3059\u3044\u70b9\u304c\u7570\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4e00\u65b9\u3067\u3001\u660e\u308b\u304f\u4eba\u61d0\u3063\u3053\u3044\u6027\u683c\u306e\u304a\u5b50\u3055\u3093\u3082\u591a\u304f\u3001\u884c\u52d5\u7279\u6027\u306e\u73fe\u308c\u65b9\u306b\u306f\u500b\u4eba\u5dee\u304c\u5927\u304d\u3044\u3053\u3068\u3082\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%A1%94%E3%81%A4%E3%81%8D%E3%81%A8%E9%A0%AD%E9%83%A8%E3%81%AE%E7%89%B9%E5%BE%B4\"><\/span><strong>\u9854\u3064\u304d\u3068\u982d\u90e8\u306e\u7279\u5fb4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5831\u544a\u3055\u308c\u305f\u75c7\u4f8b\u3067\u306f\u3001\u3044\u304f\u3064\u304b\u5171\u901a\u3057\u305f\u9854\u3064\u304d\u306e\u7279\u5fb4\u304c\u6319\u3052\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u5e83\u3044\u524d\u984d\u90e8\uff08\u304a\u3067\u3053\uff09\u3001\u76ee\u3068\u76ee\u306e\u9593\u304c\u3084\u3084\u96e2\u308c\u3066\u3044\u308b\u773c\u9593\u958b\u96e2\u3001\u7d30\u9577\u3044\u9f3b\u7b4b\u3001\u77ed\u3044\u4eba\u4e2d\uff08\u9f3b\u3068\u53e3\u306e\u9593\u306e\u6e9d\uff09\u306a\u3069\u3067\u3059\u3002\u982d\u56f2\u304c\u5e73\u5747\u3088\u308a\u3084\u3084\u5927\u304d\u3044\u5927\u982d\u75c7\u3092\u4f34\u3046\u3053\u3068\u3082\u3042\u308a\u307e\u3059\uff08<a href=\"https:\/\/www.gatad2b.org\/what-is-gand.html\" target=\"_blank\" rel=\"noopener\">Helping Hands for GAND<\/a>\uff09\u3002<\/p>\n\n\n\n<p>\u305f\u3060\u3057\u3001\u3053\u308c\u3089\u306e\u7279\u5fb4\u306f\u975e\u5e38\u306b\u30de\u30a4\u30eb\u30c9\u3067\u3001\u30d1\u30c3\u3068\u898b\u305f\u3060\u3051\u3067\u306f\u6c17\u3065\u304b\u308c\u306a\u3044\u3053\u3068\u3082\u73cd\u3057\u304f\u3042\u308a\u307e\u305b\u3093\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/intellectual-disability-facial-features-facts\/\">\u77e5\u7684\u969c\u5bb3\u3068\u9854\u3064\u304d\u306e\u95a2\u4fc2<\/a>\u3067\u3082\u89e6\u308c\u3066\u3044\u308b\u3068\u304a\u308a\u3001\u5916\u898b\u3060\u3051\u3067\u8a3a\u65ad\u3059\u308b\u3053\u3068\u306f\u3067\u304d\u305a\u3001\u78ba\u5b9a\u306b\u306f\u907a\u4f1d\u5b50\u691c\u67fb\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%AD%8B%E7%B7%8A%E5%BC%B5%E3%83%BB%E6%91%82%E9%A3%9F%E3%83%BB%E9%81%8B%E5%8B%95%E3%81%AE%E7%89%B9%E5%BE%B4\"><\/span><strong>\u7b4b\u7dca\u5f35\u30fb\u6442\u98df\u30fb\u904b\u52d5\u306e\u7279\u5fb4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8d64\u3061\u3083\u3093\u306e\u9803\u304b\u3089\u7b4b\u8089\u306e\u5f35\u308a\u304c\u5f31\u3044\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u304c\u3088\u304f\u898b\u3089\u308c\u307e\u3059\u3002\u62b1\u3063\u3053\u3057\u305f\u6642\u306b\u4f53\u304c\u3075\u306b\u3083\u3075\u306b\u3083\u3068\u67d4\u3089\u304b\u304f\u611f\u3058\u305f\u308a\u3001\u9996\u3059\u308f\u308a\u30fb\u304a\u5ea7\u308a\u30fb\u6b69\u884c\u3068\u3044\u3063\u305f\u904b\u52d5\u767a\u9054\u306e\u7bc0\u76ee\u304c\u9045\u308c\u305f\u308a\u3059\u308b\u4e00\u56e0\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u65b0\u751f\u5150\u671f\u306b\u306f\u3001\u304a\u3063\u3071\u3044\u3084\u30df\u30eb\u30af\u3092\u98f2\u3080\u529b\u304c\u5f31\u304f\u3001\u54fa\u4e73\u306b\u6642\u9593\u304c\u304b\u304b\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u598a\u5a20\u4e2d\u306b\u7f8a\u6c34\u91cf\u304c\u591a\u304f\u306a\u308b\u7f8a\u6c34\u904e\u591a\u3092\u6307\u6458\u3055\u308c\u3066\u3044\u305f\u30b1\u30fc\u30b9\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u307e\u308c\u306b\u3001\u5fc3\u81d3\u306e\u5f01\u306b\u751f\u307e\u308c\u3064\u304d\u306e\u9055\u3044\uff08\u5927\u52d5\u8108\u4e8c\u5c16\u5f01\uff09\u3084\u3066\u3093\u304b\u3093\u767a\u4f5c\u3092\u4f34\u3046\u3053\u3068\u3082\u3042\u308a\u3001\u5b9a\u671f\u7684\u306a\u533b\u7642\u7ba1\u7406\u304c\u6b20\u304b\u305b\u307e\u305b\u3093\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%8E%9F%E5%9B%A0%EF%BC%9AGATAD2B%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%A8NuRD%E8%A4%87%E5%90%88%E4%BD%93\"><\/span><strong>\u539f\u56e0\uff1aGATAD2B\u907a\u4f1d\u5b50\u3068NuRD\u8907\u5408\u4f53<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>GAND\u75c7\u5019\u7fa4\u306e\u539f\u56e0\u306f\u3001\u7b2c1\u756a\u67d3\u8272\u4f53\u306e1q21.3\u9818\u57df\u306b\u3042\u308bGATAD2B\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3067\u3059\u3002<\/strong>\u3053\u306e\u907a\u4f1d\u5b50\u304c\u3069\u306e\u3088\u3046\u306a\u50cd\u304d\u3092\u3057\u3066\u3044\u308b\u306e\u304b\u3001\u5c11\u3057\u8a73\u3057\u304f\u898b\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"GATAD2B%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%A8NuRD%E8%A4%87%E5%90%88%E4%BD%93%E3%81%AE%E5%BD%B9%E5%89%B2\"><\/span><strong>GATAD2B\u907a\u4f1d\u5b50\u3068NuRD\u8907\u5408\u4f53\u306e\u5f79\u5272<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>GATAD2B\u907a\u4f1d\u5b50\u306f\u3001NuRD\u8907\u5408\u4f53\uff08\u30cc\u30af\u30ec\u30aa\u30bd\u30fc\u30e0\u30fb\u30ea\u30e2\u30c7\u30ea\u30f3\u30b0\u30fb\u8131\u30a2\u30bb\u30c1\u30eb\u5316\u9175\u7d20\u8907\u5408\u4f53\uff09\u3068\u3044\u3046\u3001\u8133\u306e\u767a\u9054\u306b\u6b20\u304b\u305b\u306a\u3044\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u96c6\u5408\u4f53\u3092\u69cb\u6210\u3059\u308b\u4e00\u54e1\u3067\u3059\u3002NuRD\u8907\u5408\u4f53\u306f\u3001\u4ed6\u306e\u591a\u304f\u306e\u907a\u4f1d\u5b50\u306e\u30b9\u30a4\u30c3\u30c1\u3092\u30aa\u30f3\u3068\u30aa\u30d5\u306b\u5207\u308a\u66ff\u3048\u308b\u8abf\u6574\u5f79\u3092\u679c\u305f\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>GATAD2B\u306f\u3001\u3053\u306e\u8907\u5408\u4f53\u306e\u4e2d\u3067CHD3\u30fbCHD4\u30fbCHD5\u3068\u3044\u3046\u9175\u7d20\u90e8\u5206\u3092\u571f\u53f0\u306b\u3064\u306a\u304e\u3068\u3081\u308b\u5f79\u5272\u3092\u62c5\u3063\u3066\u3044\u307e\u3059\u3002GATAD2B\u304c\u6b63\u3057\u304f\u50cd\u304b\u306a\u3051\u308c\u3070\u3001\u8907\u5408\u4f53\u5168\u4f53\u306e\u6a5f\u80fd\u304c\u640d\u306a\u308f\u308c\u307e\u3059\u3002\u8133\u304c\u767a\u9054\u3059\u308b\u6642\u671f\u306b\u3001\u3069\u306e\u907a\u4f1d\u5b50\u3092\u3044\u3064\u30fb\u3069\u306e\u304f\u3089\u3044\u50cd\u304b\u305b\u308b\u304b\u3068\u3044\u3046\u6307\u4ee4\u304c\u3046\u307e\u304f\u4f1d\u308f\u3089\u306a\u304f\u306a\u308a\u3001\u795e\u7d4c\u7d30\u80de\u306e\u5f62\u6210\u3084\u3064\u306a\u304c\u308a\u306b\u5f71\u97ff\u304c\u53ca\u3076\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%BC%BC%E3%81%9F%E7%96%BE%E6%82%A3%E7%BE%A4%E3%81%A8%E3%81%AE%E9%81%95%E3%81%84%EF%BC%9ACHD3%E3%83%BBCHD4%E9%96%A2%E9%80%A3%E7%96%BE%E6%82%A3\"><\/span><strong>\u4f3c\u305f\u75be\u60a3\u7fa4\u3068\u306e\u9055\u3044\uff1aCHD3\u30fbCHD4\u95a2\u9023\u75be\u60a3<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>NuRD\u8907\u5408\u4f53\u3092\u69cb\u6210\u3059\u308b\u907a\u4f1d\u5b50\u306f\u3001GATAD2B\u306e\u307b\u304b\u306b\u3082\u8907\u6570\u3042\u308a\u307e\u3059\u3002CHD3\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306f\u30b9\u30ca\u30a4\u30c0\u30fc\u30b9\u30fb\u30d6\u30ed\u30c3\u30af\u30fb\u30ad\u30e3\u30f3\u30dd\u30fc\u75c7\u5019\u7fa4\u3001CHD4\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306f\u30b7\u30d5\u30ea\u30e0\u30fb\u30d2\u30c3\u30c4\u30fb\u30ef\u30a4\u30b9\u75c7\u5019\u7fa4\u3068\u3044\u3046\u3001\u305d\u308c\u305e\u308c\u5225\u306e\u75be\u60a3\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7814\u7a76\u8005\u306e\u9593\u3067\u306f\u3001\u3053\u308c\u3089\u3092\u307e\u3068\u3081\u3066\u300cNuRDopathy\uff08\u30cb\u30e5\u30eb\u30c9\u30d1\u30c1\u30fc\uff09\u300d\u3068\u547c\u3076\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002GAND\u75c7\u5019\u7fa4\u306f\u3001\u3053\u308c\u3089CHD\u95a2\u9023\u75be\u60a3\u306e\u7279\u5fb4\u3092\u4f75\u305b\u6301\u3064\u3088\u3046\u306a\u5e45\u5e83\u3044\u75c7\u72b6\u3092\u793a\u3059\u70b9\u304c\u7279\u5fb4\u3067\u3059\u3002\u5c02\u9580\u533b\u306b\u3088\u308b\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u3067\u539f\u56e0\u907a\u4f1d\u5b50\u3092\u7279\u5b9a\u3059\u308b\u3053\u3068\u304c\u3001\u6b63\u78ba\u306a\u9451\u5225\u3068\u898b\u901a\u3057\u306e\u628a\u63e1\u306b\u3064\u306a\u304c\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%BA%E4%BC%9D%E3%81%AB%E3%81%A4%E3%81%84%E3%81%A6%EF%BC%9A%E6%96%B0%E7%94%9F%E7%AA%81%E7%84%B6%E5%A4%89%E7%95%B0%E3%81%A8%E3%81%AF\"><\/span><strong>\u907a\u4f1d\u306b\u3064\u3044\u3066\uff1a\u65b0\u751f\u7a81\u7136\u5909\u7570\u3068\u306f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u591a\u304f\u306e\u3054\u5bb6\u65cf\u304c\u300c\u89aa\u304b\u3089\u907a\u4f1d\u3057\u305f\u306e\u304b\u300d\u300c\u598a\u5a20\u4e2d\u306e\u751f\u6d3b\u306b\u554f\u984c\u304c\u3042\u3063\u305f\u306e\u304b\u300d\u3068\u3054\u81ea\u8eab\u3092\u8cac\u3081\u3066\u3057\u307e\u308f\u308c\u307e\u3059\u3002\u3057\u304b\u3057\u3001<strong>GAND\u75c7\u5019\u7fa4\u306e\u307b\u3068\u3093\u3069\u306e\u30b1\u30fc\u30b9\u306f\u65b0\u751f\u7a81\u7136\u5909\u7570\uff08de novo\u5909\u7570\uff09\u306b\u3088\u308b\u3082\u306e\u3067\u3059\u3002<\/strong><\/p>\n\n\n\n<p>\u3054\u4e21\u89aa\u306e\u907a\u4f1d\u5b50\u306b\u306f\u5909\u5316\u304c\u306a\u304f\u3001\u7cbe\u5b50\u3084\u5375\u5b50\u304c\u4f5c\u3089\u308c\u308b\u904e\u7a0b\u3084\u53d7\u7cbe\u76f4\u5f8c\u306e\u7d30\u80de\u5206\u88c2\u306e\u6bb5\u968e\u3067\u3001\u5076\u7136GATAD2B\u907a\u4f1d\u5b50\u306b\u5909\u5316\u304c\u751f\u3058\u305f\u3053\u3068\u3092\u610f\u5473\u3057\u307e\u3059\u3002\u598a\u5a20\u4e2d\u306e\u98df\u3079\u7269\u3084\u85ac\u3001\u30b9\u30c8\u30ec\u30b9\u3001\u74b0\u5883\u304c\u539f\u56e0\u306b\u306a\u308b\u3053\u3068\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u907a\u4f1d\u5f62\u5f0f\u3068\u3057\u3066\u306f\u9855\u6027\u907a\u4f1d\u306b\u5206\u985e\u3055\u308c\u3001\u5bfe\u306b\u306a\u308b\u907a\u4f1d\u5b50\u306e\u7247\u65b9\u306b\u5909\u5316\u304c\u3042\u308c\u3070\u767a\u75c7\u3057\u307e\u3059\u304c\u3001\u305d\u306e\u307b\u3068\u3093\u3069\u306f\u65b0\u751f\u7a81\u7136\u5909\u7570\u306b\u3088\u308b\u3082\u306e\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3054\u304f\u7a00\u306b\u3001\u89aa\u5fa1\u3055\u3093\u304c\u75c7\u72b6\u306e\u306a\u3044\u307e\u307e\u907a\u4f1d\u5b50\u306e\u5909\u5316\u3092\u4f53\u306e\u4e00\u90e8\u306e\u7d30\u80de\u3060\u3051\u306b\u6301\u3064<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mosaicism\/\">\u30e2\u30b6\u30a4\u30af<\/a>\u306e\u30b1\u30fc\u30b9\u3082\u3042\u308a\u3001\u3053\u306e\u5834\u5408\u306f\u304d\u3087\u3046\u3060\u3044\u3078\u306e\u4f1d\u9054\u30ea\u30b9\u30af\u3092\u8003\u616e\u3057\u305f\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u304c\u52e7\u3081\u3089\u308c\u307e\u3059\u3002\u79c1\u81ea\u8eab\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u5834\u3067\u300c\u306a\u305c\u3046\u3061\u306e\u5b50\u306b\u300d\u3068\u6d99\u3092\u6d41\u3055\u308c\u308b\u3054\u5bb6\u65cf\u306b\u51fa\u4f1a\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u65b0\u751f\u7a81\u7136\u5909\u7570\u306f\u8ab0\u306e\u884c\u52d5\u304c\u539f\u56e0\u3067\u3082\u306a\u3044\u3068\u3044\u3046\u4e8b\u5b9f\u3092\u3001\u305d\u306e\u90fd\u5ea6\u4e01\u5be7\u306b\u304a\u4f1d\u3048\u3059\u308b\u3088\u3046\u306b\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2026\/01\/33897373_s.webp\" alt=\"\u533b\u7642\" class=\"wp-image-122254\"\/><\/figure><\/div>\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>GAND\u75c7\u5019\u7fa4\u306f\u3001\u75c7\u72b6\u3084\u9854\u3064\u304d\u3060\u3051\u3067\u306f\u4ed6\u306e\u767a\u9054\u969c\u5bb3\u3068\u533a\u5225\u304c\u3064\u304d\u306b\u304f\u3044\u305f\u3081\u3001\u78ba\u5b9a\u8a3a\u65ad\u306b\u306f\u907a\u4f1d\u5b50\u691c\u67fb\u304c\u6b20\u304b\u305b\u307e\u305b\u3093\u3002<\/strong><\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%87%A8%E5%BA%8A%E8%A8%BA%E6%96%AD%E3%81%AE%E9%9B%A3%E3%81%97%E3%81%95\"><\/span><strong>\u81e8\u5e8a\u8a3a\u65ad\u306e\u96e3\u3057\u3055<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u767a\u9054\u306e\u9045\u308c\u3084\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u306f\u3001\u591a\u304f\u306e\u75c5\u6c17\u306b\u5171\u901a\u3057\u3066\u898b\u3089\u308c\u308b\u75c7\u72b6\u3067\u3059\u3002\u305d\u306e\u305f\u3081\u5c0f\u5150\u79d1\u3067\u306e\u8a3a\u5bdf\u3060\u3051\u3067\u306f\u300c\u767a\u9054\u9045\u6ede\u300d\u300c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u300d\u3068\u3044\u3046\u8a3a\u65ad\u540d\u306b\u3068\u3069\u307e\u308a\u3001\u539f\u56e0\u306e\u7279\u5b9a\u307e\u3067\u81f3\u3089\u306a\u3044\u3053\u3068\u304c\u9577\u304f\u7d9a\u3044\u3066\u3044\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%BA%E4%BC%9D%E5%AD%A6%E7%9A%84%E6%A4%9C%E6%9F%BB\"><\/span><strong>\u907a\u4f1d\u5b66\u7684\u691c\u67fb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8fd1\u5e74\u666e\u53ca\u3057\u3066\u304d\u305f\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b5\u30fc\u3092\u7528\u3044\u305f\u691c\u67fb\u306b\u3088\u3063\u3066\u3001\u8a3a\u65ad\u304c\u53ef\u80fd\u306b\u306a\u308a\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<p>\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\uff08WES\uff09\u306f\u3001\u907a\u4f1d\u5b50\u306e\u3046\u3061\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u4f5c\u308b\u91cd\u8981\u306a\u90e8\u5206\u3092\u307e\u3068\u3081\u3066\u89e3\u8aad\u3059\u308b\u691c\u67fb\u3067\u3059\u3002GATAD2B\u907a\u4f1d\u5b50\u5185\u306e\u305f\u3063\u305f1\u6587\u5b57\u306e\u5909\u5316\uff08\u70b9\u5909\u7570\uff09\u306e\u3088\u3046\u306a\u3001\u5fae\u7d30\u306a\u5909\u5316\u3082\u898b\u3064\u3051\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u539f\u56e0\u4e0d\u660e\u306e\u767a\u9054\u9045\u6ede\u304c\u3042\u308b\u304a\u5b50\u3055\u3093\u306b\u5bfe\u3057\u3066\u3053\u306e\u691c\u67fb\u304c\u884c\u308f\u308c\u308b\u6a5f\u4f1a\u304c\u5897\u3048\u3001GAND\u75c7\u5019\u7fa4\u3068\u8a3a\u65ad\u3055\u308c\u308b\u30b1\u30fc\u30b9\u306e\u5897\u52a0\u306b\u3064\u306a\u304c\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u67d3\u8272\u4f53<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u691c\u67fb\uff08CMA\uff09\u306f\u3001\u67d3\u8272\u4f53\u306e\u5fae\u7d30\u306a\u6b20\u5931\u3084\u91cd\u8907\u3092\u8abf\u3079\u308b\u691c\u67fb\u3067\u3059\u3002GATAD2B\u907a\u4f1d\u5b50\u3092\u542b\u30801q21.3\u9818\u57df\u304c\u307e\u3068\u307e\u3063\u3066\u6b20\u3051\u3066\u3044\u308b\u30bf\u30a4\u30d7\u306e\u5909\u7570\u3067\u3042\u308c\u3070\u3001\u3053\u306e\u691c\u67fb\u3067\u3082\u898b\u3064\u304b\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u56fd\u5185\u3067\u306e\u60a3\u8005\u6570\u306f\u307e\u3060\u6b63\u78ba\u306b\u628a\u63e1\u3055\u308c\u3066\u3044\u306a\u3044\u72b6\u6cc1\u3067\u3059\uff08<a href=\"https:\/\/www.cma-search.jp\/disease-info-pro\/disease-info-pro4\/\" target=\"_blank\" rel=\"noopener\">\u6771\u4eac\u5973\u5b50\u533b\u79d1\u5927\u5b66\u30b2\u30ce\u30e0\u8a3a\u7642\u79d1<\/a>\uff09\u3002\u3053\u306e\u691c\u67fb\u3067\u5f97\u3089\u308c\u308b\u306e\u306f\u3001\u539f\u56e0\u78ba\u5b9a\u3078\u306e\u624b\u304c\u304b\u308a\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%B2%BB%E7%99%82%E3%81%A8%E7%AE%A1%E7%90%86\"><\/span><strong>\u6cbb\u7642\u3068\u7ba1\u7406<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u73fe\u5728\u306e\u533b\u5b66\u3067\u306f\u3001\u907a\u4f1d\u5b50\u306e\u5909\u5316\u305d\u306e\u3082\u306e\u3092\u4fee\u5fa9\u3057\u3066\u6839\u672c\u304b\u3089\u6cbb\u3059\u6cbb\u7642\u6cd5\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002<\/strong>\u305d\u308c\u305e\u308c\u306e\u75c7\u72b6\u306b\u5bfe\u3059\u308b\u5bfe\u75c7\u7642\u6cd5\u3068\u3001\u767a\u9054\u3092\u4fc3\u3059\u7642\u80b2\u3092\u7d44\u307f\u5408\u308f\u305b\u308b\u3053\u3068\u3067\u3001\u304a\u5b50\u3055\u3093\u306e\u6301\u3063\u3066\u3044\u308b\u529b\u3092\u5f15\u304d\u51fa\u3059\u3053\u3068\u306f\u5341\u5206\u306b\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%97%A9%E6%9C%9F%E7%99%82%E8%82%B2%E3%81%A8%E3%83%AA%E3%83%8F%E3%83%93%E3%83%AA%E3%83%86%E3%83%BC%E3%82%B7%E3%83%A7%E3%83%B3\"><\/span><strong>\u65e9\u671f\u7642\u80b2\u3068\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u7406\u5b66\u7642\u6cd5\uff08PT\uff09\u3067\u306f\u3001\u7b4b\u8089\u306e\u5f31\u3055\u3092\u88dc\u3044\u306a\u304c\u3089\u3001\u5bdd\u8fd4\u308a\u30fb\u304a\u5ea7\u308a\u30fb\u6b69\u884c\u3068\u3044\u3063\u305f\u7c97\u5927\u904b\u52d5\u306e\u767a\u9054\u3092\u4fc3\u3057\u307e\u3059\u3002\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09\u3067\u306f\u3001\u624b\u5148\u306e\u7d30\u304b\u3044\u52d5\u4f5c\u3084\u65e5\u5e38\u751f\u6d3b\u306e\u52d5\u4f5c\u3092\u7df4\u7fd2\u3057\u3001\u611f\u899a\u904e\u654f\u304c\u3042\u308b\u5834\u5408\u306f\u611f\u899a\u7d71\u5408\u7642\u6cd5\u3092\u53d6\u308a\u5165\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=\"%E3%82%B3%E3%83%9F%E3%83%A5%E3%83%8B%E3%82%B1%E3%83%BC%E3%82%B7%E3%83%A7%E3%83%B3%E6%94%AF%E6%8F%B4\"><\/span><strong>\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u652f\u63f4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8a00\u8449\u306e\u8868\u51fa\u304c\u82e6\u624b\u306a\u304a\u5b50\u3055\u3093\u306b\u3068\u3063\u3066\u3001\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u624b\u6bb5\u3092\u78ba\u4fdd\u3059\u308b\u3053\u3068\u306f\u5fc3\u306e\u5b89\u5b9a\u306b\u3064\u306a\u304c\u308a\u307e\u3059\u3002\u8a00\u8a9e\u8074\u899a\u58eb\uff08ST\uff09\u306b\u3088\u308b\u6307\u5c0e\u306b\u52a0\u3048\u3001\u30b5\u30a4\u30f3\u8a00\u8a9e\u3084\u7d75\u30ab\u30fc\u30c9\u3001\u30bf\u30d6\u30ec\u30c3\u30c8\u7aef\u672b\u306e\u30a2\u30d7\u30ea\u306a\u3069\u3001\u4ee3\u66ff\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\uff08AAC\uff09\u306e\u6d3b\u7528\u304c\u5e83\u304c\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u8a71\u305b\u306a\u3044\u304b\u3089\u9053\u5177\u3092\u4f7f\u3046\u300d\u306e\u3067\u306f\u306a\u304f\u3001\u9053\u5177\u3092\u4f7f\u3063\u3066\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u306e\u697d\u3057\u3055\u3092\u77e5\u308b\u3053\u3068\u304c\u8a00\u8449\u306e\u767a\u9054\u3092\u5f8c\u62bc\u3057\u3059\u308b\u3001\u3068\u3044\u3046\u8003\u3048\u65b9\u304c\u4e3b\u6d41\u3067\u3059\u3002iPad\u306a\u3069\u3092\u4f7f\u3063\u3066\u81ea\u5206\u306e\u610f\u601d\u3092\u4e0a\u624b\u306b\u4f1d\u3048\u3066\u3044\u308b\u304a\u5b50\u3055\u3093\u306e\u69d8\u5b50\u3082\u3001\u6d77\u5916\u306e\u5bb6\u65cf\u4f1a\u30b5\u30a4\u30c8\u3067\u591a\u304f\u7d39\u4ecb\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%8C%BB%E7%99%82%E7%9A%84%E3%81%AA%E7%AE%A1%E7%90%86%E3%81%A8%E6%95%99%E8%82%B2%E7%92%B0%E5%A2%83\"><\/span><strong>\u533b\u7642\u7684\u306a\u7ba1\u7406\u3068\u6559\u80b2\u74b0\u5883<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5b9a\u671f\u7684\u306a\u5065\u5eb7\u30c1\u30a7\u30c3\u30af\u3082\u6b20\u304b\u305b\u307e\u305b\u3093\u3002\u659c\u8996\u3084\u5c48\u6298\u7570\u5e38\u304c\u306a\u3044\u304b\u773c\u79d1\u3067\u78ba\u8a8d\u3057\u3001\u3051\u3044\u308c\u3093\u767a\u4f5c\u304c\u7591\u308f\u308c\u308b\u5834\u5408\u306f\u8133\u6ce2\u691c\u67fb\u3092\u884c\u3044\u307e\u3059\u3002\u5fc3\u81d3\u306e\u69cb\u9020\u306b\u751f\u307e\u308c\u3064\u304d\u306e\u9055\u3044\u304c\u306a\u3044\u304b\u3001\u5ff5\u306e\u305f\u3081\u5fc3\u30a8\u30b3\u30fc\u691c\u67fb\u3092\u884c\u3046\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u7761\u7720\u306e\u30ea\u30ba\u30e0\u304c\u4e71\u308c\u3084\u3059\u3044\u5834\u5408\u306f\u3001\u751f\u6d3b\u30ea\u30ba\u30e0\u306e\u8abf\u6574\u3084\u85ac\u306b\u3088\u308b\u5bfe\u5fdc\u3092\u8a66\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<p>\u5c31\u5b66\u306b\u969b\u3057\u3066\u306f\u3001\u304a\u5b50\u3055\u3093\u306e\u7279\u6027\u306b\u5408\u308f\u305b\u305f\u74b0\u5883\u9078\u3073\u304c\u5927\u5207\u3067\u3059\u3002\u5730\u57df\u306e\u7279\u5225\u652f\u63f4\u5b66\u7d1a\u3084\u7279\u5225\u652f\u63f4\u5b66\u6821\u306a\u3069\u3001\u5c11\u4eba\u6570\u3067\u624b\u539a\u3044\u30b5\u30dd\u30fc\u30c8\u304c\u53d7\u3051\u3089\u308c\u308b\u74b0\u5883\u304c\u9078\u3070\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002\u8996\u899a\u7684\u306a\u60c5\u5831\u51e6\u7406\u304c\u5f97\u610f\u306a\u304a\u5b50\u3055\u3093\u3082\u591a\u304f\u3001\u8a00\u8449\u3060\u3051\u3067\u306a\u304f\u7d75\u3084\u5199\u771f\u3067\u30b9\u30b1\u30b8\u30e5\u30fc\u30eb\u3092\u793a\u3059\u8996\u899a\u652f\u63f4\u3092\u53d6\u308a\u5165\u308c\u308b\u3068\u3001\u898b\u901a\u3057\u3092\u6301\u3063\u3066\u843d\u3061\u7740\u3044\u3066\u904e\u3054\u305b\u308b\u3088\u3046\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u304a\u5b50\u3055\u3093\u306e\u8a3a\u65ad\u3092\u304d\u3063\u304b\u3051\u306b\u3001\u6b21\u306e\u598a\u5a20\u306b\u5411\u3051\u305f\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3092\u8003\u3048\u308b\u3054\u5bb6\u65cf\u3082\u3044\u3089\u3063\u3057\u3083\u3044\u307e\u3059\u3002\u67d3\u8272\u4f53\u3084\u907a\u4f1d\u5b50\u306e\u5909\u5316\u306b\u3064\u3044\u3066\u76f8\u8ac7\u3057\u305f\u3044\u5834\u5408\u306f\u3001\u4ee5\u4e0b\u304b\u3089\u7121\u6599\u76f8\u8ac7\u3092\u5229\u7528\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<div class=\"wp-block-buttons is-content-justification-center is-layout-flex wp-container-core-buttons-is-layout-16018d1d wp-block-buttons-is-layout-flex\">\n<div class=\"wp-block-button\"><a class=\"wp-block-button__link wp-element-button\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/line-registration\/\" target=\"_blank\" rel=\"noopener\">LINE\u3067\u7121\u6599\u76f8\u8ac7\u3059\u308b<\/a><\/div>\n<\/div>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"NIPT%EF%BC%88%E6%96%B0%E5%9E%8B%E5%87%BA%E7%94%9F%E5%89%8D%E8%A8%BA%E6%96%AD%EF%BC%89%E3%81%A8%E3%81%AE%E9%96%A2%E4%BF%82\"><\/span><strong>NIPT\uff08\u65b0\u578b\u51fa\u751f\u524d\u8a3a\u65ad\uff09\u3068\u306e\u95a2\u4fc2<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>GAND\u75c7\u5019\u7fa4\u306fGATAD2B\u907a\u4f1d\u5b50\u306e\u65b0\u751f\u7a81\u7136\u5909\u7570\u306b\u3088\u308b\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u3067\u3042\u308a\u3001\u6a19\u6e96\u7684\u306aNIPT\u306e\u5bfe\u8c61\u306b\u306f\u542b\u307e\u308c\u307e\u305b\u3093\u3002<\/strong>\u79c1\u3082\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u5834\u3067\u300c\u3053\u306e\u75c5\u6c17\u3082NIPT\u3067\u5206\u304b\u308a\u307e\u3059\u304b\u300d\u3068\u3044\u3046\u3054\u8cea\u554f\u3092\u53d7\u3051\u308b\u3053\u3068\u304c\u3042\u308b\u305f\u3081\u3001\u3053\u306e\u70b9\u3092\u6574\u7406\u3057\u3066\u304a\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6a19\u6e96\u7684\u306aNIPT\u306f\u3001\u598a\u5a66\u3055\u3093\u306e\u8840\u6db2\u4e2d\u306b\u542b\u307e\u308c\u308b\u80ce\u5150\u7531\u6765\u306eDNA\u65ad\u7247\uff08cfDNA\uff09\u3092\u89e3\u6790\u3059\u308b\u691c\u67fb\u3067\u3059\u300221\u30c8\u30ea\u30bd\u30df\u30fc\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/edwards-syndrome\/\">18\u30c8\u30ea\u30bd\u30df\u30fc<\/a>\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/patau-syndrome\/\">13\u30c8\u30ea\u30bd\u30df\u30fc<\/a>\u306a\u3069\u3001\u67d3\u8272\u4f53\u306e\u300c\u6570\u300d\u306e\u5909\u5316\u3092\u8abf\u3079\u308b\u975e\u4fb5\u8972\u7684\u306a\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u691c\u67fb\u306b\u306a\u308a\u307e\u3059\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosomal-abnormalities-nipt\/\">\u67d3\u8272\u4f53\u7570\u5e38\u3068NIPT\u8a3a\u65ad<\/a>\u3067\u6271\u3063\u3066\u3044\u308b\u306e\u3082\u3001\u3053\u306e\u67d3\u8272\u4f53\u7570\u6570\u6027\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u4e00\u65b9\u3067GAND\u75c7\u5019\u7fa4\u306f\u3001\u67d3\u8272\u4f53\u306e\u6570\u3067\u306f\u306a\u304f\u3001GATAD2B\u3068\u3044\u30461\u3064\u306e\u907a\u4f1d\u5b50\u5185\u306e\u70b9\u5909\u7570\u3084\u5fae\u7d30\u306a\u6b20\u5931\u304c\u539f\u56e0\u3067\u3059\u3002\u67d3\u8272\u4f53\u7570\u6570\u6027\u3092\u8abf\u3079\u308b\u4ed5\u7d44\u307f\u3067\u306f\u30011\u6587\u5b57\u5358\u4f4d\u306e\u5909\u5316\u307e\u3067\u306f\u691c\u51fa\u3067\u304d\u307e\u305b\u3093\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-intellectual-disability-developmental-disorders-limits\/\">NIPT\u3067\u77e5\u7684\u969c\u5bb3\u306f\u5206\u304b\u308b\uff1f\u691c\u67fb\u7bc4\u56f2\u3068\u9650\u754c\u306e\u771f\u5b9f<\/a>\u3067\u3082\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosomal-abnormality\/\">\u67d3\u8272\u4f53\u7570\u5e38<\/a>\u3068\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u306f\u4ed5\u7d44\u307f\u304c\u7570\u306a\u308b\u3068\u89e3\u8aac\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<figure class=\"wp-table-block\"><table><thead><tr><th>\u6bd4\u8f03\u9805\u76ee<\/th><th>\u6a19\u6e96\u7684\u306aNIPT<\/th><th>GAND\u75c7\u5019\u7fa4<\/th><\/tr><\/thead><tbody><tr><td>\u539f\u56e0\u306e\u7a2e\u985e<\/td><td>\u67d3\u8272\u4f53\u306e\u6570\u7684\u7570\u5e38\uff0821\/18\/<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/patau-syndrome\/\">13\u30c8\u30ea\u30bd\u30df\u30fc<\/a>\u306a\u3069\uff09<\/td><td>GATAD2B\u907a\u4f1d\u5b50\u5185\u306e\u70b9\u5909\u7570\u30fb\u5fae\u7d30\u6b20\u5931<\/td><\/tr><tr><td>\u8abf\u3079\u308b\u65b9\u6cd5<\/td><td>\u6bcd\u4f53\u8840\u4e2d\u306e\u80ce\u5150cfDNA\u89e3\u6790<\/td><td>\u907a\u4f1d\u5b50\u691c\u67fb\uff08WES\u30fbCMA\u306a\u3069\uff09<\/td><\/tr><tr><td>\u6a19\u6e96NIPT\u306e\u5bfe\u8c61<\/td><td>\u5bfe\u8c61<\/td><td>\u5bfe\u8c61\u5916<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<p>\u3053\u306e\u3088\u3046\u306b\u3001\u540c\u3058\u300c\u51fa\u751f\u524d\u306e\u907a\u4f1d\u60c5\u5831\u300d\u3067\u3082\u8abf\u3079\u308b\u4ed5\u7d44\u307f\u304c\u7570\u306a\u308a\u307e\u3059\u3002\u8fd1\u5e74\u306f\u3001\u3088\u308a\u5e83\u3044\u907a\u4f1d\u5b50\u9818\u57df\u3092\u8abf\u3079\u308b\u62e1\u5f35\u7684\u306a\u51fa\u751f\u524d\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u3082\u7814\u7a76\u30fb\u63d0\u4f9b\u3055\u308c\u59cb\u3081\u3066\u3044\u307e\u3059\u304c\u3001\u5358\u4e00\u907a\u4f1d\u5b50\u306e\u65b0\u751f\u7a81\u7136\u5909\u7570\u3092\u3069\u3053\u307e\u3067\u6b63\u78ba\u306b\u691c\u51fa\u3067\u304d\u308b\u304b\u306f\u691c\u67fb\u624b\u6cd5\u3084\u5bfe\u8c61\u75be\u60a3\u306b\u3088\u3063\u3066\u5dee\u304c\u3042\u308a\u307e\u3059\u3002\u500b\u3005\u306e\u691c\u67fb\u3067\u3069\u3053\u307e\u3067\u5206\u304b\u308b\u304b\u306f\u3001\u5b9f\u65bd\u6a5f\u95a2\u3078\u78ba\u8a8d\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<p>\u4f3c\u305f\u75c7\u72b6\u3092\u6301\u3064\u75be\u60a3\u306b\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/schuurs-hoeijmakers-syndrome-pacs1-guide\/\">\u30b7\u30e5\u30fc\u30eb\u30ba\u30fb\u30db\u30a8\u30a4\u30de\u30ab\u30fc\u30ba\u75c7\u5019\u7fa4\uff08PACS1\u95a2\u9023\u75c7\u5019\u7fa4\uff09<\/a>\u306a\u3069\u3001\u4ed6\u306e\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u304c\u3042\u308a\u307e\u3059\u3002\u3044\u305a\u308c\u3082\u6a19\u6e96NIPT\u306e\u5bfe\u8c61\u7bc4\u56f2\u5916\u3067\u3042\u308b\u70b9\u306f\u5171\u901a\u3057\u3066\u3044\u307e\u3059\u3002\u598a\u5a20\u4e2d\u306e\u691c\u67fb\u3067\u67d3\u8272\u4f53\u4ee5\u5916\u306e\u60c5\u5831\u304c\u6c17\u306b\u306a\u308b\u5834\u5408\u306f\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u306e\u76f8\u8ac7\u3082\u9078\u629e\u80a2\u306e\u4e00\u3064\u3067\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%8F\"><\/span><strong>\u3088\u304f\u3042\u308b\u8cea\u554f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u3053\u3053\u3067\u306f\u3001\u3054\u5bb6\u65cf\u304b\u3089\u5bc4\u305b\u3089\u308c\u308b\u3053\u3068\u304c\u591a\u30446\u3064\u306e\u8cea\u554f\u306b\u304a\u7b54\u3048\u3057\u307e\u3059\u3002<\/strong><\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"GAND%E7%97%87%E5%80%99%E7%BE%A4%E3%81%AF%E3%81%A9%E3%81%AE%E3%81%8F%E3%82%89%E3%81%84%E3%81%BE%E3%82%8C%E3%81%AA%E7%97%85%E6%B0%97%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\"><\/span>GAND\u75c7\u5019\u7fa4\u306f\u3069\u306e\u304f\u3089\u3044\u307e\u308c\u306a\u75c5\u6c17\u3067\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u975e\u5e38\u306b\u307e\u308c\u306a\u75be\u60a3\u3067\u3059\u30022020\u5e74\u306b\u767a\u8868\u3055\u308c\u305f\u56fd\u969b\u7684\u306a\u75c7\u4f8b\u7814\u7a76\u3067\u306f50\u540d\u306e\u60a3\u8005\u304c\u5831\u544a\u3055\u308c\u3001\u3053\u308c\u307e\u3067\u306b\u533b\u5b66\u6587\u732e\u3067\u5831\u544a\u3055\u308c\u305f\u75c7\u4f8b\u6570\u306f\u4e16\u754c\u5168\u4f53\u3067\u3082100\u4f8b\u306b\u5c4a\u3044\u3066\u3044\u307e\u305b\u3093\u3002\u56fd\u5185\u3067\u306e\u60a3\u8005\u6570\u306f\u6b63\u78ba\u306b\u628a\u63e1\u3055\u308c\u3066\u3044\u306a\u3044\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%A6%AA%E3%81%8B%E3%82%89%E5%AD%90%E3%81%B8%E9%81%BA%E4%BC%9D%E3%81%97%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82%E6%AC%A1%E3%81%AE%E5%AD%90%E3%82%82%E7%99%BA%E7%97%87%E3%81%97%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u89aa\u304b\u3089\u5b50\u3078\u907a\u4f1d\u3057\u307e\u3059\u304b\u3002\u6b21\u306e\u5b50\u3082\u767a\u75c7\u3057\u307e\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u307b\u3068\u3093\u3069\u306e\u5834\u5408\u3001\u89aa\u304b\u3089\u306e\u907a\u4f1d\u3067\u306f\u306a\u304f\u65b0\u751f\u7a81\u7136\u5909\u7570\u306b\u3088\u3063\u3066\u8d77\u3053\u308a\u307e\u3059\u3002\u6b21\u306e\u304a\u5b50\u3055\u3093\u304c\u540c\u3058\u75c5\u6c17\u306b\u306a\u308b\u78ba\u7387\u306f\u3001\u3054\u304f\u7a00\u306a<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mosaicism\/\">\u30e2\u30b6\u30a4\u30af<\/a>\u306e\u30b1\u30fc\u30b9\u3092\u9664\u304d\u3001\u4e00\u822c\u306e\u598a\u5a20\u3068\u307b\u3068\u3093\u3069\u5909\u308f\u3089\u306a\u3044\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%A6%8A%E5%A8%A0%E4%B8%AD%E3%81%AENIPT%E3%81%A7GAND%E7%97%87%E5%80%99%E7%BE%A4%E3%81%AF%E5%88%86%E3%81%8B%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u598a\u5a20\u4e2d\u306eNIPT\u3067GAND\u75c7\u5019\u7fa4\u306f\u5206\u304b\u308a\u307e\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6a19\u6e96\u7684\u306aNIPT\u306f\u67d3\u8272\u4f53\u306e\u6570\u7684\u7570\u5e38\u3092\u8abf\u3079\u308b\u691c\u67fb\u306e\u305f\u3081\u3001GATAD2B\u907a\u4f1d\u5b50\u306e\u5909\u7570\u304c\u539f\u56e0\u306eGAND\u75c7\u5019\u7fa4\u306f\u5bfe\u8c61\u306b\u542b\u307e\u308c\u307e\u305b\u3093\u3002\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u307e\u3067\u8abf\u3079\u305f\u3044\u5834\u5408\u306f\u3001\u691c\u67fb\u9805\u76ee\u3092\u4e8b\u524d\u306b\u78ba\u8a8d\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%87%AA%E9%96%89%E3%82%B9%E3%83%9A%E3%82%AF%E3%83%88%E3%83%A9%E3%83%A0%E7%97%87%E3%81%A8%E3%81%AF%E9%81%95%E3%81%86%E7%97%85%E6%B0%97%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\u3068\u306f\u9055\u3046\u75c5\u6c17\u3067\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7<\/a>\u306b\u4f3c\u305f\u884c\u52d5\u3092\u4f34\u3046\u3053\u3068\u306f\u3042\u308a\u307e\u3059\u304c\u3001GAND\u75c7\u5019\u7fa4\u306f\u539f\u56e0\u907a\u4f1d\u5b50\u304c\u7279\u5b9a\u3055\u308c\u305f\u795e\u7d4c\u767a\u9054\u75c7\u5019\u7fa4\u3067\u3042\u308a\u3001\u884c\u52d5\u9762\u306e\u8a3a\u65ad\u540d\u3067\u3042\u308b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7<\/a>\u305d\u306e\u3082\u306e\u3068\u306f\u533a\u5225\u3055\u308c\u307e\u3059\u3002\u4e21\u65b9\u306e\u7279\u6027\u3092\u4f75\u305b\u6301\u3064\u304a\u5b50\u3055\u3093\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%B2%BB%E7%99%82%E6%B3%95%E3%81%AF%E3%81%82%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u907a\u4f1d\u5b50\u306e\u5909\u5316\u305d\u306e\u3082\u306e\u3092\u4fee\u5fa9\u3059\u308b\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u3001\u73fe\u6642\u70b9\u3067\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002\u7406\u5b66\u7642\u6cd5\u3084\u4f5c\u696d\u7642\u6cd5\u3001\u8a00\u8a9e\u7642\u6cd5\u306a\u3069\u306e\u7642\u80b2\u3092\u7d44\u307f\u5408\u308f\u305b\u3066\u3001\u767a\u9054\u3092\u5f8c\u62bc\u3057\u3059\u308b\u3053\u3068\u304c\u4e2d\u5fc3\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%A9%E3%81%93%E3%81%AB%E7%9B%B8%E8%AB%87%E3%81%99%E3%82%8C%E3%81%B0%E3%82%88%E3%81%84%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u3069\u3053\u306b\u76f8\u8ac7\u3059\u308c\u3070\u3088\u3044\u3067\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6d77\u5916\u306e\u8a73\u3057\u3044\u60c5\u5831\u306f\u3001\u7c73\u56fd\u56fd\u7acb\u885b\u751f\u7814\u7a76\u6240\uff08NIH\uff09\u306e<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/12815\/severe-intellectual-disability-poor-language-strabismus-grimacing-face-long-fingers-syndrome\" target=\"_blank\" rel=\"noopener\">GARD\uff08Genetic and Rare Diseases Information Center\uff09<\/a>\u3084\u3001\u5f53\u4e8b\u8005\u652f\u63f4\u56e3\u4f53Helping Hands for GAND\u306e\u30a6\u30a7\u30d6\u30b5\u30a4\u30c8\u3067\u78ba\u8a8d\u3067\u304d\u307e\u3059\u3002\u56fd\u5185\u3067\u306f\u3001\u5c02\u9580\u7684\u306a\u907a\u4f1d\u5b50\u8a3a\u7642\u3092\u884c\u3046\u533b\u7642\u6a5f\u95a2\u3084\u3001\u304b\u304b\u308a\u3064\u3051\u533b\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u7a93\u53e3\u3078\u76f8\u8ac7\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\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><strong>GAND\u75c7\u5019\u7fa4\u306f\u3001GATAD2B\u907a\u4f1d\u5b50\u306e\u65b0\u751f\u7a81\u7136\u5909\u7570\u306b\u3088\u3063\u3066<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3084\u8a00\u8449\u306e\u767a\u9054\u306b\u5f71\u97ff\u304c\u51fa\u308b\u3001\u5831\u544a\u4f8b100\u4f8b\u306b\u6e80\u305f\u306a\u3044\u5e0c\u5c11\u306a\u795e\u7d4c\u767a\u9054\u75c7\u5019\u7fa4\u3067\u3059\u3002<\/strong>\u3053\u3053\u304b\u3089\u306f\u3001\u8981\u70b9\u6574\u7406\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u75c5\u6c17\u306e\u672c\u8cea\uff1a<\/strong> GATAD2B\u907a\u4f1d\u5b50\u306e\u5909\u5316\u306b\u3088\u308aNuRD\u8907\u5408\u4f53\u306e\u50cd\u304d\u304c\u4e71\u308c\u3001\u8133\u306e\u767a\u9054\u306b\u5f71\u97ff\u304c\u51fa\u308b\u751f\u307e\u308c\u3064\u304d\u306e\u4f53\u8cea\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4e3b\u306a\u75c7\u72b6\uff1a<\/strong> <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3001\u8a00\u8449\u306e\u9045\u308c\uff08\u767a\u8a9e\u5931\u884c\uff09\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7<\/a>\u306b\u4f3c\u305f\u884c\u52d5\u3001\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u306a\u3069\u304c\u7279\u5fb4\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u539f\u56e0\uff1a<\/strong> \u307b\u3068\u3093\u3069\u304c\u65b0\u751f\u7a81\u7136\u5909\u7570\u306b\u3088\u308b\u3082\u306e\u3067\u3001\u89aa\u306e\u305b\u3044\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li><strong>\u9451\u5225\uff1a<\/strong> CHD3\u30fbCHD4\u95a2\u9023\u75be\u60a3\u306a\u3069\u4ed6\u306eNuRD\u95a2\u9023\u75be\u60a3\u3068\u75c7\u72b6\u304c\u91cd\u306a\u308b\u305f\u3081\u3001\u907a\u4f1d\u5b50\u691c\u67fb\u3067\u306e\u78ba\u8a8d\u304c\u91cd\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>NIPT\u3068\u306e\u95a2\u4fc2\uff1a<\/strong> \u67d3\u8272\u4f53\u7570\u6570\u6027\u3092\u8abf\u3079\u308b\u6a19\u6e96\u7684\u306aNIPT\u306e\u5bfe\u8c61\u306b\u306f\u542b\u307e\u308c\u306a\u3044\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u304a\u5b50\u3055\u3093\u306e\u8a3a\u65ad\u3084\u65e5\u3005\u306e\u30b1\u30a2\u3067\u60a9\u307e\u308c\u308b\u3053\u3068\u306f\u591a\u3044\u3068\u601d\u3044\u307e\u3059\u3002\u7642\u80b2\u3068\u533b\u7642\u7684\u306a\u7ba1\u7406\u3092\u7d44\u307f\u5408\u308f\u305b\u306a\u304c\u3089\u3001\u7740\u5b9f\u306a\u6210\u9577\u3092\u652f\u3048\u3066\u3044\u304f\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u598a\u5a20\u3092\u63a7\u3048\u3066\u3044\u308b\u65b9\u3067\u3001\u67d3\u8272\u4f53\u306e\u5909\u5316\u306b\u3064\u3044\u3066\u65e9\u3081\u306b\u60c5\u5831\u3092\u5f97\u305f\u3044\u3068\u8003\u3048\u308b\u5834\u5408\u306f\u3001NIPT\u3068\u3044\u3046\u9078\u629e\u80a2\u3082\u8a66\u3057\u3066\u307f\u3066\u304f\u3060\u3055\u3044\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\u3054\u5229\u7528\u304f\u3060\u3055\u3044\u3002\u304a\u96fb\u8a71\u3067\u306e\u3054\u76f8\u8ac7\u306f<a href=\"tel:0120169629\">0120-169-629<\/a>\u307e\u3067\u627f\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<div class=\"wp-block-buttons is-content-justification-center is-layout-flex wp-container-core-buttons-is-layout-16018d1d wp-block-buttons-is-layout-flex\">\n<div class=\"wp-block-button\"><a class=\"wp-block-button__link wp-element-button\" href=\"https:\/\/mypage-nipt-reservation.hiro-clinic.or.jp\/registration\" target=\"_blank\" rel=\"noopener\">NIPT\u306e\u4e88\u7d04\u306f\u3053\u3061\u3089<\/a><\/div>\n<\/div>\n\n\n\n<p><strong>\u76e3\u4fee\uff1a\u5ca1\u535a\u53f2\uff08\u304a\u304b \u3072\u308d\u3057\uff09<\/strong> \/ \u533b\u7642\u6cd5\u4eba\u793e\u56e3\u798f\u7f8e\u4f1a \u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u7d71\u62ec\u9662\u9577\u30fbLabo 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