{"id":83449,"date":"2024-11-14T13:20:06","date_gmt":"2024-11-14T04:20:06","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=83449"},"modified":"2026-07-20T06:18:47","modified_gmt":"2026-07-19T21:18:47","slug":"1q41_q42_deletion_syndrome","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/1q41_q42_deletion_syndrome\/","title":{"rendered":"1q41-q42\u6b20\u5931\u75c7\u5019\u7fa4\uff081q41-q42 Deletion Syndrome\uff09\u306b\u3064\u3044\u3066"},"content":{"rendered":"<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><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/1q41_q42_deletion_syndrome\/\">1q41-q42\u6b20\u5931\u75c7\u5019\u7fa4<\/a>\u306f\u30011\u756a\u67d3\u8272\u4f53\u9577\u8155\u306eq41-q42\u9818\u57df\u304c\u6b20\u5931\u3059\u308b\u3053\u3068\u3067\u8d77\u3053\u308b\u3001\u975e\u5e38\u306b\u307e\u308c\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002\u56fd\u969b\u7684\u306a\u5e0c\u5c11\u75be\u60a3\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u3067\u306f<strong>OMIM #612530<\/strong>\u3068\u3057\u3066\u767b\u9332\u3055\u308c\u3066\u304a\u308a\u3001\u767a\u9054\u9045\u5ef6\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u30fb\u3066\u3093\u304b\u3093\u767a\u4f5c\u306b\u52a0\u3048\u3001\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u3001\u53e3\u84cb\u88c2\u3001\u5185\u53cd\u8db3\u3001\u5148\u5929\u6027\u5fc3\u75be\u60a3\u306a\u3069\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u6b20\u5931\u7bc4\u56f2\u304c\u5e83\u3044\u91cd\u75c7\u4f8b\u3067\u306f\u6a2a\u9694\u819c\u30d8\u30eb\u30cb\u30a2\u3092\u4f34\u3046\u3053\u3068\u3082\u3042\u308a\u3001\u75c7\u72b6\u306e\u5e45\u306f\u95a2\u4e0e\u3059\u308b\u907a\u4f1d\u5b50\u3084\u6b20\u5931\u306e\u5927\u304d\u3055\u306b\u3088\u3063\u3066\u5927\u304d\u304f\u7570\u306a\u308a\u307e\u3059\u3002\u591a\u304f\u306f\u65b0\u305f\u306a\u7a81\u7136\u5909\u7570\u3068\u3057\u3066\u5076\u767a\u7684\u306b\u751f\u3058\u3001\u89aa\u304b\u3089\u53d7\u3051\u7d99\u304c\u308c\u308b\u30b1\u30fc\u30b9\u306f\u307e\u308c\u3067\u3059\u3002\u6cbb\u7642\u306f\u5bfe\u75c7\u7642\u6cd5\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u3001\u767a\u9054\u652f\u63f4\u30fb\u3066\u3093\u304b\u3093\u7ba1\u7406\u30fb\u5916\u79d1\u7684\u5bfe\u5fdc\u3092\u7d44\u307f\u5408\u308f\u305b\u305f\u9577\u671f\u7684\u306a\u30d5\u30a9\u30ed\u30fc\u304c\u6b20\u304b\u305b\u307e\u305b\u3093\u3002\u5bb6\u65cf\u306b\u306f\u533b\u7642\u7684\u30fb\u7d4c\u6e08\u7684\u30fb\u7cbe\u795e\u7684\u306a\u8ca0\u62c5\u304c\u4f34\u3044\u307e\u3059\u304c\u3001\u516c\u7684\u652f\u63f4\u5236\u5ea6\u3084\u5c02\u9580\u533b\u7642\u6a5f\u95a2\u3068\u306e\u9023\u643a\u306b\u3088\u3063\u3066\u3001\u8ca0\u62c5\u3092\u5206\u304b\u3061\u5408\u3044\u306a\u304c\u3089\u5b50\u3069\u3082\u306e\u767a\u9054\u3092\u652f\u3048\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p><\/div>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u598a\u5a20\u4e2d\u306e\u30ea\u30b9\u30af\u7ba1\u7406\u306b<br \/>\nNIPT\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p>&nbsp;<\/p>\n<\/div>\n<\/div>\n\n\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_85 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\/1q41_q42_deletion_syndrome\/#1_1q41-q42%E6%AC%A0%E5%A4%B1%E7%97%87%E5%80%99%E7%BE%A4%E3%81%A8%E3%81%AF%EF%BC%9F%E5%8E%9F%E5%9B%A0%E3%81%A8%E3%81%AA%E3%82%8B%E6%9F%93%E8%89%B2%E4%BD%93%E3%81%AE%E5%A4%89%E5%8C%96\" >1. 1q41-q42\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u306f\uff1f\u539f\u56e0\u3068\u306a\u308b\u67d3\u8272\u4f53\u306e\u5909\u5316<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/1q41_q42_deletion_syndrome\/#2_%E7%97%87%E7%8A%B6%E3%81%AE%E7%89%B9%E5%BE%B4%EF%BC%9A%E7%99%BA%E9%81%94%E3%83%BB%E9%A1%94%E8%B2%8C%E3%83%BB%E8%BA%AB%E4%BD%93%E7%9A%84%E6%89%80%E8%A6%8B\" >2. \u75c7\u72b6\u306e\u7279\u5fb4\uff1a\u767a\u9054\u30fb\u9854\u8c8c\u30fb\u8eab\u4f53\u7684\u6240\u898b<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/1q41_q42_deletion_syndrome\/#3_%E5%87%BA%E7%94%9F%E5%89%8D%E8%A8%BA%E6%96%AD%E3%81%A8NIPT%E3%81%A8%E3%81%AE%E9%96%A2%E4%BF%82\" >3. \u51fa\u751f\u524d\u8a3a\u65ad\u3068NIPT\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-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/1q41_q42_deletion_syndrome\/#4_%E6%B2%BB%E7%99%82%E3%81%A8%E3%82%B5%E3%83%9D%E3%83%BC%E3%83%88%E3%81%AE%E9%81%B8%E6%8A%9E%E8%82%A2\" >4. \u6cbb\u7642\u3068\u30b5\u30dd\u30fc\u30c8\u306e\u9078\u629e\u80a2<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/1q41_q42_deletion_syndrome\/#5_%E4%BA%88%E5%BE%8C%EF%BC%9A%E9%95%B7%E6%9C%9F%E7%9A%84%E3%81%AA%E8%A6%8B%E9%80%9A%E3%81%97\" >5. \u4e88\u5f8c\uff1a\u9577\u671f\u7684\u306a\u898b\u901a\u3057<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/1q41_q42_deletion_syndrome\/#6_%E3%81%94%E5%AE%B6%E6%97%8F%E3%81%AE%E8%B2%A0%E6%8B%85%E3%81%A8%E3%82%B5%E3%83%9D%E3%83%BC%E3%83%88%E4%BD%93%E5%88%B6\" >6. \u3054\u5bb6\u65cf\u306e\u8ca0\u62c5\u3068\u30b5\u30dd\u30fc\u30c8\u4f53\u5236<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/1q41_q42_deletion_syndrome\/#7_%E3%82%88%E3%81%8F%E3%81%82%E3%82%8B%E8%B3%AA%E5%95%8F%EF%BC%88FAQ%EF%BC%89\" >7. \u3088\u304f\u3042\u308b\u8cea\u554f\uff08FAQ\uff09<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/1q41_q42_deletion_syndrome\/#Q1_1q41-q42%E6%AC%A0%E5%A4%B1%E7%97%87%E5%80%99%E7%BE%A4%E3%81%AF%E9%81%BA%E4%BC%9D%E3%81%97%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\" >Q1. 1q41-q42\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u907a\u4f1d\u3057\u307e\u3059\u304b\uff1f<\/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\/1q41_q42_deletion_syndrome\/#Q2_NIPT%E3%81%A7%E3%81%93%E3%81%AE%E7%96%BE%E6%82%A3%E3%81%AF%E3%82%8F%E3%81%8B%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\" >Q2. NIPT\u3067\u3053\u306e\u75be\u60a3\u306f\u308f\u304b\u308a\u307e\u3059\u304b\uff1f<\/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\/1q41_q42_deletion_syndrome\/#Q3_%E5%87%BA%E7%94%9F%E5%89%8D%E3%81%AE%E8%B6%85%E9%9F%B3%E6%B3%A2%E6%A4%9C%E6%9F%BB%E3%81%A7%E8%A6%8B%E3%81%A4%E3%81%8B%E3%82%8B%E3%81%93%E3%81%A8%E3%81%AF%E3%81%82%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\" >Q3. \u51fa\u751f\u524d\u306e\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u898b\u3064\u304b\u308b\u3053\u3068\u306f\u3042\u308a\u307e\u3059\u304b\uff1f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/1q41_q42_deletion_syndrome\/#Q4_%E3%81%A9%E3%81%AE%E3%81%8F%E3%82%89%E3%81%84%E3%81%AE%E9%A0%BB%E5%BA%A6%E3%81%A7%E8%A6%8B%E3%82%89%E3%82%8C%E3%82%8B%E7%96%BE%E6%82%A3%E3%81%A7%E3%81%99%E3%81%8B%EF%BC%9F\" >Q4. \u3069\u306e\u304f\u3089\u3044\u306e\u983b\u5ea6\u3067\u898b\u3089\u308c\u308b\u75be\u60a3\u3067\u3059\u304b\uff1f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-12\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/1q41_q42_deletion_syndrome\/#Q5_%E3%81%A6%E3%82%93%E3%81%8B%E3%82%93%E7%99%BA%E4%BD%9C%E3%81%AF%E5%BF%85%E3%81%9A%E8%B5%B7%E3%81%93%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\" >Q5. \u3066\u3093\u304b\u3093\u767a\u4f5c\u306f\u5fc5\u305a\u8d77\u3053\u308a\u307e\u3059\u304b\uff1f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-13\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/1q41_q42_deletion_syndrome\/#Q6_%E5%AE%B6%E6%97%8F%E3%81%AF%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E6%94%AF%E6%8F%B4%E3%82%92%E5%8F%97%E3%81%91%E3%82%89%E3%82%8C%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\" >Q6. \u5bb6\u65cf\u306f\u3069\u306e\u3088\u3046\u306a\u652f\u63f4\u3092\u53d7\u3051\u3089\u308c\u307e\u3059\u304b\uff1f<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/1q41_q42_deletion_syndrome\/#8_%E3%81%BE%E3%81%A8%E3%82%81\" >8. \u307e\u3068\u3081<\/a><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_1q41-q42%E6%AC%A0%E5%A4%B1%E7%97%87%E5%80%99%E7%BE%A4%E3%81%A8%E3%81%AF%EF%BC%9F%E5%8E%9F%E5%9B%A0%E3%81%A8%E3%81%AA%E3%82%8B%E6%9F%93%E8%89%B2%E4%BD%93%E3%81%AE%E5%A4%89%E5%8C%96\"><\/span>1. 1q41-q42\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u306f\uff1f\u539f\u56e0\u3068\u306a\u308b\u67d3\u8272\u4f53\u306e\u5909\u5316<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/1q41_q42_deletion_syndrome\/\">1q41-q42\u6b20\u5931\u75c7\u5019\u7fa4<\/a>\u306f\u30011\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155q41\u304b\u3089q42\u306b\u304b\u3051\u3066\u306e\u9818\u57df\u304c\u6b20\u5931\u3057\u3066\u8d77\u3053\u308b\u3001\u304d\u308f\u3081\u3066\u307e\u308c\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n<p>\u3053\u306e\u75be\u60a3\u306f<a href=\"https:\/\/omim.org\/entry\/612530\" target=\"_blank\" rel=\"noopener\">OMIM\uff08#612530\uff09<\/a>\u3084<a href=\"https:\/\/www.orpha.net\/en\/disease\/detail\/250999\" target=\"_blank\" rel=\"noopener\">Orphanet\uff08ORPHA:250999\uff09<\/a>\u3068\u3044\u3063\u305f\u56fd\u969b\u7684\u306a\u5e0c\u5c11\u75be\u60a3\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u306b\u767b\u9332\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u6b20\u5931\u306e\u591a\u304f\u306f<strong>\u65b0\u305f\u306a\u7a81\u7136\u5909\u7570\uff08\u30c7\u30ce\u30dc\u5909\u7570\uff09<\/strong>\u3068\u3057\u3066\u5076\u767a\u7684\u306b\u751f\u3058\u3001\u4e21\u89aa\u306e\u3069\u3061\u3089\u304b\u304b\u3089\u53d7\u3051\u7d99\u304c\u308c\u308b\u30b1\u30fc\u30b9\u306f\u307e\u308c\u3067\u3059\u3002\u305f\u3060\u3057\u3001\u307e\u308c\u306b\u89aa\u304c\u5747\u8861\u578b\u8ee2\u5ea7\u4fdd\u56e0\u8005\u3067\u3042\u308b\u305f\u3081\u306b\u751f\u3058\u308b\u4f8b\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n<p>\u95a2\u4e0e\u3059\u308b\u907a\u4f1d\u5b50\u306e\u7814\u7a76\u3082\u9032\u3093\u3067\u3044\u307e\u3059\u3002<strong>DISP1<\/strong>\u306f\u30bd\u30cb\u30c3\u30af\u30d8\u30c3\u30b8\u30db\u30c3\u30b0\u7d4c\u8def\u306b\u304b\u304b\u308f\u308b\u907a\u4f1d\u5b50\u3067\u3001\u53e3\u84cb\u88c2\u3084\u6a2a\u9694\u819c\u30d8\u30eb\u30cb\u30a2\u3068\u3044\u3063\u305f\u6b63\u4e2d\u7dda\u306e\u5f62\u6210\u7570\u5e38\u3068\u306e\u95a2\u9023\u304c\u6307\u6458\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u4e00\u65b9\u3001<strong>FBXO28<\/strong>\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3084\u3066\u3093\u304b\u3093\u767a\u4f5c\u306e\u8868\u73fe\u578b\u306b\u5f37\u304f\u95a2\u308f\u308b\u539f\u56e0\u907a\u4f1d\u5b50\u3068\u3057\u3066\u30012013\u5e74\u306e\u7814\u7a76\u3067\u9818\u57df\u304c\u7d5e\u308a\u8fbc\u307e\u308c\u307e\u3057\u305f\u3002<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/24357076\/\" target=\"_blank\" rel=\"noopener\">\u3053\u306e\u7814\u7a76\uff08PubMed\uff09<\/a>\u3067\u306f\u3001FBXO28\u5358\u72ec\u306e\u5909\u7570\u3067\u3082\u540c\u69d8\u306e\u75c7\u72b6\u304c\u751f\u3058\u308b\u3053\u3068\u304c\u793a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n    <a href=\"\/nipt\/3q29del\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">3q29\u6b20\u5931\u75c7\u5019\u7fa4\uff083q29 deletion syndrome\uff09 <\/div>\n          <div class=\"blog-card-excerpt\">3q29\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u67d3\u8272\u4f53\u306e\u7279\u5b9a\u90e8\u5206\u306e\u6b20\u5931\u306b\u3088\u308b\u7a00\u5c11\u75be\u60a3\u3067\u3001\u591a\u69d8\u306a\u75c7\u72b6\u3092\u4f34\u3044\u307e\u3059\u3002\u4e00\u65b9\u3001\u30c0\u30a4\u30e4\u30e2\u30f3\u30c9\u30fb\u30d6\u30e9\u30c3\u30af\u30d5\u30a1\u30f3\u8ca7\u88405\u578b\uff08DBA5\uff09\u306fR&#8230;<\/div>\n      <\/div>\n    <\/a>\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E7%97%87%E7%8A%B6%E3%81%AE%E7%89%B9%E5%BE%B4%EF%BC%9A%E7%99%BA%E9%81%94%E3%83%BB%E9%A1%94%E8%B2%8C%E3%83%BB%E8%BA%AB%E4%BD%93%E7%9A%84%E6%89%80%E8%A6%8B\"><\/span>2. \u75c7\u72b6\u306e\u7279\u5fb4\uff1a\u767a\u9054\u30fb\u9854\u8c8c\u30fb\u8eab\u4f53\u7684\u6240\u898b<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/1q41_q42_deletion_syndrome\/\">1q41-q42\u6b20\u5931\u75c7\u5019\u7fa4<\/a>\u306e\u75c7\u72b6\u306f\u3001\u6b20\u5931\u3057\u3066\u3044\u308b\u7bc4\u56f2\u3084\u907a\u4f1d\u5b50\u306b\u3088\u3063\u3066\u500b\u4eba\u5dee\u304c\u5927\u304d\u3044\u306e\u304c\u7279\u5fb4\u3067\u3059\u3002\u8efd\u75c7\u304b\u3089\u91cd\u75c7\u307e\u3067\u3001\u5e45\u5e83\u3044\u8868\u73fe\u578b\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n<figure class=\"wp-block-table\"><table>\n<thead><tr><th>\u75c7\u72b6\u306e\u30ab\u30c6\u30b4\u30ea<\/th><th>\u5177\u4f53\u7684\u306a\u6240\u898b<\/th><\/tr><\/thead>\n<tbody>\n<tr><td>\u767a\u9054\u30fb\u77e5\u7684\u6a5f\u80fd<\/td><td>\u767a\u9054\u9045\u5ef6\u3001\u4e2d\u7b49\u5ea6\u304b\u3089\u91cd\u5ea6\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3001\u8a00\u8a9e\u767a\u9054\u306e\u9045\u308c<\/td><\/tr>\n<tr><td>\u795e\u7d4c\u7cfb<\/td><td>\u3066\u3093\u304b\u3093\u767a\u4f5c\u3001\u8133\u6881\u4f4e\u5f62\u6210\u306a\u3069\u306e\u8133\u5f62\u614b\u7570\u5e38<\/td><\/tr>\n<tr><td>\u9854\u8c8c<\/td><td>\u524d\u982d\u90e8\u306e\u7a81\u51fa\u3001\u76ee\u306e\u843d\u3061\u304f\u307c\u307f\u3001\u9f3b\u5148\u306e\u5e83\u304c\u308a\u3001\u9f3b\u80cc\u306e\u5e73\u5766\u5316\u3001\u9f3b\u5b54\u306e\u524d\u65b9\u50be\u659c<\/td><\/tr>\n<tr><td>\u53e3\u30fb\u984e<\/td><td>\u53e3\u84cb\u88c2\u307e\u305f\u306f\u305d\u308c\u306b\u985e\u3059\u308b\u6240\u898b<\/td><\/tr>\n<tr><td>\u56db\u80a2<\/td><td>\u5185\u53cd\u8db3\u3001\u722a\u306e\u4f4e\u5f62\u6210<\/td><\/tr>\n<tr><td>\u5fc3\u81d3<\/td><td>\u5148\u5929\u6027\u5fc3\u75be\u60a3<\/td><\/tr>\n<tr><td>\u91cd\u75c7\u4f8b<\/td><td>\u6a2a\u9694\u819c\u30d8\u30eb\u30cb\u30a2\uff08\u6b20\u5931\u7bc4\u56f2\u304c\u5e83\u3044\u91cd\u75c7\u578b\u3067\u5831\u544a\u3002\u30d5\u30ea\u30f3\u30b9\u75c7\u5019\u7fa4\u306b\u985e\u4f3c\u3057\u305f\u8868\u73fe\u578b\u3092\u793a\u3059\u3053\u3068\u3082\u3042\u308a\u307e\u3059\uff09<\/td><\/tr>\n<\/tbody>\n<\/table><\/figure>\n\n<p>\u884c\u52d5\u9762\u3067\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u75c7<\/a>\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u969c\u5bb3\uff08ASD\uff09\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/adhd-genetics-symptoms-support\/\">ADHD<\/a>\u306b\u4f3c\u305f\u7279\u6027\u304c\u307f\u3089\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u6b21\u306e\u3088\u3046\u306a\u7279\u5fb4\u304c\u4ee3\u8868\u7684\u3067\u3059\u3002<\/p>\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u306e\u7279\u6027<\/strong><br>\u8a00\u8449\u3067\u306e\u3084\u308a\u53d6\u308a\u3088\u308a\u3001\u8996\u899a\u7684\u306a\u624b\u304c\u304b\u308a\u306e\u307b\u3046\u304c\u4f1d\u308f\u308a\u3084\u3059\u3044\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<li><strong>\u611f\u899a\u306e\u904e\u654f\u3055<\/strong><br>\u97f3\u3084\u5149\u3001\u7279\u5b9a\u306e\u89e6\u611f\u306b\u5bfe\u3057\u3066\u654f\u611f\u306b\u53cd\u5fdc\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<li><strong>\u3053\u3060\u308f\u308a\u306e\u5f37\u3055<\/strong><br>\u6c7a\u307e\u3063\u305f\u624b\u9806\u3084\u74b0\u5883\u3092\u597d\u307f\u3001\u5909\u5316\u3092\u82e6\u624b\u3068\u3059\u308b\u50be\u5411\u304c\u307f\u3089\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u598a\u5a20\u4e2d\u306e\u30ea\u30b9\u30af\u7ba1\u7406\u306b<br \/>\nNIPT\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p>&nbsp;<\/p>\n<\/div>\n<\/div>\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E5%87%BA%E7%94%9F%E5%89%8D%E8%A8%BA%E6%96%AD%E3%81%A8NIPT%E3%81%A8%E3%81%AE%E9%96%A2%E4%BF%82\"><\/span>3. \u51fa\u751f\u524d\u8a3a\u65ad\u3068NIPT\u3068\u306e\u95a2\u4fc2<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/1q41_q42_deletion_syndrome\/\">1q41-q42\u6b20\u5931\u75c7\u5019\u7fa4<\/a>\u306f\u67d3\u8272\u4f53\u306e\u3054\u304f\u5c0f\u3055\u306a\u5909\u5316\u3067\u3042\u308b\u305f\u3081\u3001<strong>\u901a\u5e38\u306eNIPT\uff08\u65b0\u578b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\uff09\u3060\u3051\u3067\u306f\u691c\u51fa\u304c\u96e3\u3057\u3044\u75be\u60a3<\/strong>\u3067\u3059\u3002\u5f53\u9662\u306e\u5916\u6765\u3067\u3082\u3001\u80ce\u5150\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u8edf\u90e8\u30de\u30fc\u30ab\u30fc\u3092\u6307\u6458\u3055\u308c\u305f\u3042\u3068\u3001\u67d3\u8272\u4f53\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u306b\u3064\u3044\u3066\u76f8\u8ac7\u306b\u3044\u3089\u3063\u3057\u3083\u308b\u598a\u5a66\u3055\u3093\u306b\u304a\u4f1a\u3044\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n<p>NIPT\u306f\u57fa\u672c\u7684\u306b21\u30fb18\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/patau-syndrome\/\">13\u30c8\u30ea\u30bd\u30df\u30fc<\/a>\u3092\u4e2d\u5fc3\u306b\u8abf\u3079\u308b\u691c\u67fb\u3067\u3059\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u306b\u5bfe\u5fdc\u3057\u305f\u62e1\u5f35\u30d1\u30cd\u30eb\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u5bfe\u8c61\u3068\u306a\u308b\u306e\u306f22q11.2\u6b20\u5931\u75c7\u5019\u7fa4\u306a\u3069\u767a\u751f\u983b\u5ea6\u304c\u6bd4\u8f03\u7684\u9ad8\u3044\u9818\u57df\u304c\u4e2d\u5fc3\u3067\u30011q41-q42\u306e\u3088\u3046\u306a\u307e\u308c\u306a\u9818\u57df\u306f\u5bfe\u8c61\u5916\u3068\u306a\u308b\u3053\u3068\u304c\u307b\u3068\u3093\u3069\u3067\u3059\u3002\u691c\u4f53\u306e\u89e3\u6790\u306f\u63d0\u643a\u3059\u308b\u56fd\u5185\u306e\u691c\u67fb\u6a5f\u95a2\uff08\u6771\u4eac\u885b\u751f\u691c\u67fb\u6240\uff09\u3067\u884c\u308f\u308c\u307e\u3059\u3002<\/p>\n\n<figure class=\"wp-block-table\"><table>\n<thead><tr><th>\u691c\u67fb\u65b9\u6cd5<\/th><th>\u4e3b\u306a\u5bfe\u8c61<\/th><th>1q41-q42\u6b20\u5931\u306e\u691c\u51fa<\/th><\/tr><\/thead>\n<tbody>\n<tr><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>\uff08cfDNA\u691c\u67fb\uff09<\/td><td>21\u30fb18\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/patau-syndrome\/\">13\u30c8\u30ea\u30bd\u30df\u30fc<\/a>\u4e2d\u5fc3<\/td><td>\u901a\u5e38\u306f\u5bfe\u8c61\u5916\uff08\u62e1\u5f35\u30d1\u30cd\u30eb\u3067\u3082\u9650\u5b9a\u7684\uff09<\/td><\/tr>\n<tr><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\uff08G\u30d0\u30f3\u30c9\u5206\u67d3\u6cd5\uff09<\/td><td>\u67d3\u8272\u4f53\u6570\u30fb\u5927\u304d\u306a\u69cb\u9020\u7570\u5e38<\/td><td>\u6b20\u5931\u304c\u5fae\u5c0f\u306a\u305f\u3081\u691c\u51fa\u56f0\u96e3<\/td><\/tr>\n<tr><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09<\/td><td>\u30b2\u30ce\u30e0\u5168\u4f53\u306e\u5fae\u5c0f\u306a\u6b20\u5931\u30fb\u91cd\u8907<\/td><td>\u691c\u51fa\u53ef\u80fd<\/td><\/tr>\n<\/tbody>\n<\/table><\/figure>\n\n<p>\u78ba\u5b9a\u8a3a\u65ad\u3078\u306e\u9375\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u67d3\u8272\u4f53\u691c\u67fb\u3002\u5b9f\u969b\u306b\u3054\u5bb6\u65cf\u306e\u304a\u8a71\u3092\u3046\u304b\u304c\u3063\u3066\u3044\u308b\u3068\u3001\u8a3a\u65ad\u304c\u3064\u3044\u305f\u76f4\u5f8c\u306f\u60c5\u5831\u304c\u5c11\u306a\u304f\u3001\u4e0d\u5b89\u3092\u611f\u3058\u305f\u3068\u3044\u3046\u58f0\u3092\u6570\u591a\u304f\u805e\u304d\u307e\u3059\u3002\u6c17\u306b\u306a\u308b\u6240\u898b\u3092\u6307\u6458\u3055\u308c\u305f\u5834\u5408\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u67d3\u8272\u4f53\u691c\u67fb\u306b\u3064\u3044\u3066\u3001\u62c5\u5f53\u533b\u3068\u76f8\u8ac7\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E6%B2%BB%E7%99%82%E3%81%A8%E3%82%B5%E3%83%9D%E3%83%BC%E3%83%88%E3%81%AE%E9%81%B8%E6%8A%9E%E8%82%A2\"><\/span>4. \u6cbb\u7642\u3068\u30b5\u30dd\u30fc\u30c8\u306e\u9078\u629e\u80a2<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/1q41_q42_deletion_syndrome\/\">1q41-q42\u6b20\u5931\u75c7\u5019\u7fa4<\/a>\u305d\u306e\u3082\u306e\u3092\u6cbb\u3059\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u3001\u73fe\u6642\u70b9\u3067\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002\u75c7\u72b6\u3084\u5408\u4f75\u75c7\u306b\u5fdc\u3058\u305f\u5305\u62ec\u7684\u306a\u30b5\u30dd\u30fc\u30c8\u304c\u57fa\u672c\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n<ul class=\"wp-block-list\">\n<li><strong>\u767a\u9054\u652f\u63f4\u3068\u7642\u80b2<\/strong><br>\u8a00\u8a9e\u7642\u6cd5\u3001\u7406\u5b66\u7642\u6cd5\u3001\u4f5c\u696d\u7642\u6cd5\u3092\u7d44\u307f\u5408\u308f\u305b\u3001\u767a\u9054\u306e\u9045\u308c\u3092\u500b\u5225\u306b\u652f\u3048\u307e\u3059\u3002<\/li>\n<li><strong>\u3066\u3093\u304b\u3093\u306e\u7ba1\u7406<\/strong><br>\u767a\u4f5c\u306e\u578b\u306b\u5fdc\u3058\u3066\u6297\u3066\u3093\u304b\u3093\u85ac\u3092\u9078\u629e\u3057\u3001\u8907\u6570\u3092\u4f75\u7528\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<li><strong>\u5916\u79d1\u7684\u5bfe\u5fdc<\/strong><br>\u5fc3\u75be\u60a3\u3084\u53e3\u84cb\u88c2\u3001\u6a2a\u9694\u819c\u30d8\u30eb\u30cb\u30a2\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u5c02\u9580\u8a3a\u7642\u79d1\u3067\u306e\u624b\u8853\u3092\u691c\u8a0e\u3057\u307e\u3059\u3002<\/li>\n<li><strong>\u884c\u52d5\u9762\u3078\u306e\u30b5\u30dd\u30fc\u30c8<\/strong><br>\u884c\u52d5\u7642\u6cd5\u3084\u5fc3\u7406\u652f\u63f4\u3092\u901a\u3058\u3066\u3001\u65e5\u5e38\u751f\u6d3b\u3067\u306e\u56f0\u308a\u3054\u3068\u3092\u6e1b\u3089\u3057\u3066\u3044\u304d\u307e\u3059\u3002<\/li>\n<\/ul>\n\n<p>\u75c7\u72b6\u306e\u7d44\u307f\u5408\u308f\u305b\u306f\u4e00\u4eba\u3072\u3068\u308a\u7570\u306a\u308b\u305f\u3081\u3001\u5c0f\u5150\u79d1\u30fb\u795e\u7d4c\u5185\u79d1\u30fb\u5fc3\u81d3\u5916\u79d1\u306a\u3069\u8907\u6570\u306e\u8a3a\u7642\u79d1\u304c\u9023\u643a\u3059\u308b\u30c1\u30fc\u30e0\u533b\u7642\u304c\u529b\u3092\u767a\u63ee\u3057\u307e\u3059\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/30958270_s.jpg\" alt=\"\u533b\u5e2b\u304c\u5bb6\u65cf\u306b\u67d3\u8272\u4f53\u75be\u60a3\u306e\u691c\u67fb\u7d50\u679c\u306b\u3064\u3044\u3066\u8aac\u660e\u3057\u3066\u3044\u308b\u69d8\u5b50\" class=\"wp-image-87729\"\/><\/figure><\/div>\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"5_%E4%BA%88%E5%BE%8C%EF%BC%9A%E9%95%B7%E6%9C%9F%E7%9A%84%E3%81%AA%E8%A6%8B%E9%80%9A%E3%81%97\"><\/span>5. \u4e88\u5f8c\uff1a\u9577\u671f\u7684\u306a\u898b\u901a\u3057<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n<p>\u4e88\u5f8c\u306f\u3001\u6b20\u5931\u306e\u7bc4\u56f2\u3084\u5408\u4f75\u75c7\u306e\u6709\u7121\u306b\u3088\u3063\u3066\u5927\u304d\u304f\u7570\u306a\u308a\u307e\u3059\u3002\u307e\u3055\u306b\u5341\u4eba\u5341\u8272\u306e\u7d4c\u904e\u3002\u6a2a\u9694\u819c\u30d8\u30eb\u30cb\u30a2\u3084\u91cd\u3044\u5fc3\u75be\u60a3\u3092\u4f34\u3046\u91cd\u75c7\u4f8b\u3067\u306f\u3001\u65b0\u751f\u5150\u671f\u304b\u3089\u306e\u96c6\u4e2d\u7684\u306a\u533b\u7642\u7ba1\u7406\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n<p>\u4e00\u65b9\u3067\u3001\u8efd\u75c7\u4f8b\u3067\u306f\u65e9\u671f\u306e\u7642\u80b2\u3068\u652f\u63f4\u306b\u3088\u3063\u3066\u3001\u751f\u6d3b\u306e\u8cea\u3092\u9ad8\u3081\u3066\u3044\u3051\u308b\u30b1\u30fc\u30b9\u3082\u5c11\u306a\u304f\u3042\u308a\u307e\u305b\u3093\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3084\u884c\u52d5\u9762\u306e\u8ab2\u984c\u304c\u9577\u671f\u306b\u308f\u305f\u3063\u3066\u7d9a\u304f\u3053\u3068\u3082\u591a\u304f\u3001\u5c31\u5b66\u3084\u5c31\u52b4\u3092\u898b\u636e\u3048\u305f\u7d99\u7d9a\u7684\u306a\u652f\u63f4\u4f53\u5236\u3065\u304f\u308a\u304c\u6b20\u304b\u305b\u307e\u305b\u3093\u3002\u5b9a\u671f\u7684\u306a\u767a\u9054\u8a55\u4fa1\u3092\u53d7\u3051\u306a\u304c\u3089\u3001\u305d\u306e\u6642\u3005\u306e\u72b6\u6cc1\u306b\u5408\u308f\u305b\u3066\u652f\u63f4\u5185\u5bb9\u3092\u898b\u76f4\u3057\u3066\u3044\u304f\u59ff\u52e2\u304c\u6c42\u3081\u3089\u308c\u307e\u3059\u3002<\/p>\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u598a\u5a20\u4e2d\u306e\u30ea\u30b9\u30af\u7ba1\u7406\u306b<br \/>\nNIPT\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p>&nbsp;<\/p>\n<\/div>\n<\/div>\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"6_%E3%81%94%E5%AE%B6%E6%97%8F%E3%81%AE%E8%B2%A0%E6%8B%85%E3%81%A8%E3%82%B5%E3%83%9D%E3%83%BC%E3%83%88%E4%BD%93%E5%88%B6\"><\/span>6. \u3054\u5bb6\u65cf\u306e\u8ca0\u62c5\u3068\u30b5\u30dd\u30fc\u30c8\u4f53\u5236<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/1q41_q42_deletion_syndrome\/\">1q41-q42\u6b20\u5931\u75c7\u5019\u7fa4<\/a>\u306e\u5b50\u3069\u3082\u3092\u80b2\u3066\u308b\u5bb6\u65cf\u306b\u306f\u3001\u65e5\u5e38\u7684\u306b\u3055\u307e\u3056\u307e\u306a\u8ca0\u62c5\u304c\u304b\u304b\u308a\u307e\u3059\u3002\u516c\u7684\u306a\u652f\u63f4\u5236\u5ea6\u3092\u7d44\u307f\u5408\u308f\u305b\u308b\u3053\u3068\u3067\u3001\u8ca0\u62c5\u3092\u8efd\u6e1b\u3067\u304d\u307e\u3059\u3002<\/p>\n\n<ul class=\"wp-block-list\">\n<li><strong>\u533b\u7642\u7ba1\u7406\u306e\u8ca0\u62c5<\/strong><br>\u3066\u3093\u304b\u3093\u3084\u5fc3\u81d3\u3001\u9aa8\u683c\u306e\u7570\u5e38\u306b\u5bfe\u3059\u308b\u7d99\u7d9a\u7684\u306a\u901a\u9662\u304c\u5fc5\u8981\u3067\u3059\u3002\u5c02\u9580\u533b\u3068\u306e\u9023\u643a\u304c\u652f\u3048\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n<li><strong>\u767a\u9054\u652f\u63f4\u3068\u6559\u80b2\u306e\u8ca0\u62c5<\/strong><br><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/learning-disabilities-genetics-support\/\">\u5b66\u7fd2\u969c\u5bb3<\/a>\u3078\u306e\u5bfe\u5fdc\u3092\u542b\u3081\u3001\u500b\u5225\u306e\u7642\u80b2\u8a08\u753b\u304c\u6c42\u3081\u3089\u308c\u307e\u3059\u3002<\/li>\n<li><strong>\u7d4c\u6e08\u7684\u306a\u8ca0\u62c5<\/strong><br>\u5c0f\u5150\u6162\u6027\u7279\u5b9a\u75be\u75c5\u533b\u7642\u8cbb\u52a9\u6210\u5236\u5ea6\u3084\u7279\u5225\u5150\u7ae5\u6276\u990a\u624b\u5f53\u306a\u3069\u3001\u516c\u7684\u306a\u52a9\u6210\u5236\u5ea6\u3092\u6d3b\u7528\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/li>\n<li><strong>\u7cbe\u795e\u7684\u306a\u8ca0\u62c5<\/strong><br>\u60a3\u8005\u4f1a\u3084\u5730\u57df\u306e\u76f8\u8ac7\u652f\u63f4\u4e8b\u696d\u6240\u3068\u3064\u306a\u304c\u308b\u3053\u3068\u3067\u3001\u5b64\u7acb\u3092\u9632\u304e\u3084\u3059\u304f\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n<p>\u7642\u80b2\u624b\u5e33\u306e\u53d6\u5f97\u3084\u5730\u57df\u306e\u7642\u80b2\u30bb\u30f3\u30bf\u30fc\u3068\u306e\u9023\u643a\u3082\u3001\u9577\u671f\u7684\u306a\u652f\u63f4\u4f53\u5236\u3092\u7bc9\u304f\u3046\u3048\u3067\u6709\u52b9\u306a\u9078\u629e\u80a2\u3067\u3059\u3002<\/p>\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"7_%E3%82%88%E3%81%8F%E3%81%82%E3%82%8B%E8%B3%AA%E5%95%8F%EF%BC%88FAQ%EF%BC%89\"><\/span>7. \u3088\u304f\u3042\u308b\u8cea\u554f\uff08FAQ\uff09<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/1q41_q42_deletion_syndrome\/\">1q41-q42\u6b20\u5931\u75c7\u5019\u7fa4<\/a>\u306b\u3064\u3044\u3066\u3001\u8a3a\u5bdf\u3067\u3088\u304f\u805e\u304b\u308c\u308b\u8cea\u554f\u3092\u307e\u3068\u3081\u307e\u3057\u305f\u3002<\/p>\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q1_1q41-q42%E6%AC%A0%E5%A4%B1%E7%97%87%E5%80%99%E7%BE%A4%E3%81%AF%E9%81%BA%E4%BC%9D%E3%81%97%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span>Q1. 1q41-q42\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u907a\u4f1d\u3057\u307e\u3059\u304b\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n<p>\u307b\u3068\u3093\u3069\u306e\u5834\u5408\u3001\u65b0\u305f\u306a\u7a81\u7136\u5909\u7570\u3068\u3057\u3066\u5076\u767a\u7684\u306b\u751f\u3058\u3001\u4e21\u89aa\u304b\u3089\u53d7\u3051\u7d99\u304c\u308c\u308b\u30b1\u30fc\u30b9\u306f\u307e\u308c\u3067\u3059\u3002\u307e\u308c\u306b\u89aa\u304c\u5747\u8861\u578b\u8ee2\u5ea7\u4fdd\u56e0\u8005\u3067\u3042\u308b\u5834\u5408\u306b\u5b50\u3069\u3082\u3078\u4f1d\u308f\u308b\u3053\u3068\u3082\u3042\u308b\u305f\u3081\u3001\u78ba\u5b9a\u8a3a\u65ad\u304c\u3064\u3044\u305f\u969b\u306f\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u5bb6\u65cf\u306e\u67d3\u8272\u4f53\u691c\u67fb\u3092\u691c\u8a0e\u3057\u307e\u3059\u3002<\/p>\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q2_NIPT%E3%81%A7%E3%81%93%E3%81%AE%E7%96%BE%E6%82%A3%E3%81%AF%E3%82%8F%E3%81%8B%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span>Q2. NIPT\u3067\u3053\u306e\u75be\u60a3\u306f\u308f\u304b\u308a\u307e\u3059\u304b\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n<p>\u901a\u5e38\u306eNIPT\u306f21\u30fb18\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/patau-syndrome\/\">13\u30c8\u30ea\u30bd\u30df\u30fc<\/a>\u3092\u4e2d\u5fc3\u306b\u8abf\u3079\u308b\u691c\u67fb\u306e\u305f\u3081\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/1q41_q42_deletion_syndrome\/\">1q41-q42\u6b20\u5931\u75c7\u5019\u7fa4<\/a>\u306e\u3088\u3046\u306a\u5fae\u5c0f\u306a\u5909\u5316\u306f\u5bfe\u8c61\u5916\u3068\u306a\u308b\u3053\u3068\u304c\u307b\u3068\u3093\u3069\u3067\u3059\u3002\u6c17\u306b\u306a\u308b\u6240\u898b\u304c\u3042\u308b\u5834\u5408\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u67d3\u8272\u4f53\u691c\u67fb\u3078\u306e\u76f8\u8ac7\u3092\u691c\u8a0e\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q3_%E5%87%BA%E7%94%9F%E5%89%8D%E3%81%AE%E8%B6%85%E9%9F%B3%E6%B3%A2%E6%A4%9C%E6%9F%BB%E3%81%A7%E8%A6%8B%E3%81%A4%E3%81%8B%E3%82%8B%E3%81%93%E3%81%A8%E3%81%AF%E3%81%82%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span>Q3. \u51fa\u751f\u524d\u306e\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u898b\u3064\u304b\u308b\u3053\u3068\u306f\u3042\u308a\u307e\u3059\u304b\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n<p>\u6a2a\u9694\u819c\u30d8\u30eb\u30cb\u30a2\u3084\u5fc3\u81d3\u306e\u69cb\u9020\u7570\u5e38\u306a\u3069\u91cd\u75c7\u578b\u306b\u7279\u5fb4\u7684\u306a\u6240\u898b\u304c\u3042\u308b\u5834\u5408\u3001\u80ce\u5150\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u6307\u6458\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u8efd\u75c7\u4f8b\u3067\u306f\u51fa\u751f\u524d\u306b\u6240\u898b\u304c\u898b\u3089\u308c\u306a\u3044\u3053\u3068\u3082\u5c11\u306a\u304f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q4_%E3%81%A9%E3%81%AE%E3%81%8F%E3%82%89%E3%81%84%E3%81%AE%E9%A0%BB%E5%BA%A6%E3%81%A7%E8%A6%8B%E3%82%89%E3%82%8C%E3%82%8B%E7%96%BE%E6%82%A3%E3%81%A7%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span>Q4. \u3069\u306e\u304f\u3089\u3044\u306e\u983b\u5ea6\u3067\u898b\u3089\u308c\u308b\u75be\u60a3\u3067\u3059\u304b\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n<p>\u4e16\u754c\u7684\u306b\u5831\u544a\u4f8b\u304c\u9650\u3089\u308c\u308b\u975e\u5e38\u306b\u307e\u308c\u306a\u75be\u60a3\u3067\u3001\u6b63\u78ba\u306a\u767a\u751f\u983b\u5ea6\u306f\u660e\u3089\u304b\u306b\u306a\u3063\u3066\u3044\u307e\u305b\u3093\u3002\u56fd\u969b\u7684\u306a\u5e0c\u5c11\u75be\u60a3\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u306b\u306f\u767b\u9332\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u75c7\u4f8b\u6570\u81ea\u4f53\u304c\u5c11\u306a\u3044\u306e\u304c\u5b9f\u60c5\u3067\u3059\u3002<\/p>\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q5_%E3%81%A6%E3%82%93%E3%81%8B%E3%82%93%E7%99%BA%E4%BD%9C%E3%81%AF%E5%BF%85%E3%81%9A%E8%B5%B7%E3%81%93%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span>Q5. \u3066\u3093\u304b\u3093\u767a\u4f5c\u306f\u5fc5\u305a\u8d77\u3053\u308a\u307e\u3059\u304b\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n<p>\u5fc5\u305a\u8d77\u3053\u308b\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u767a\u4f5c\u306e\u6709\u7121\u3084\u91cd\u75c7\u5ea6\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308a\u3001\u6297\u3066\u3093\u304b\u3093\u85ac\u3067\u7ba1\u7406\u3067\u304d\u308b\u30b1\u30fc\u30b9\u304c\u5927\u534a\u3067\u3059\u3002<\/p>\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q6_%E5%AE%B6%E6%97%8F%E3%81%AF%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E6%94%AF%E6%8F%B4%E3%82%92%E5%8F%97%E3%81%91%E3%82%89%E3%82%8C%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span>Q6. \u5bb6\u65cf\u306f\u3069\u306e\u3088\u3046\u306a\u652f\u63f4\u3092\u53d7\u3051\u3089\u308c\u307e\u3059\u304b\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n<p>\u5c0f\u5150\u6162\u6027\u7279\u5b9a\u75be\u75c5\u533b\u7642\u8cbb\u52a9\u6210\u5236\u5ea6\u3084\u7642\u80b2\u624b\u5e33\u3001\u7279\u5225\u5150\u7ae5\u6276\u990a\u624b\u5f53\u3068\u3044\u3063\u305f\u516c\u7684\u5236\u5ea6\u306b\u52a0\u3048\u3001\u5730\u57df\u306e\u7642\u80b2\u30bb\u30f3\u30bf\u30fc\u3084\u60a3\u8005\u4f1a\u3068\u306e\u3064\u306a\u304c\u308a\u304c\u652f\u3048\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"8_%E3%81%BE%E3%81%A8%E3%82%81\"><\/span>8. \u307e\u3068\u3081<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/1q41_q42_deletion_syndrome\/\">1q41-q42\u6b20\u5931\u75c7\u5019\u7fa4<\/a>\u3092\u6301\u3064\u5b50\u3069\u3082\u3068\u305d\u306e\u5bb6\u65cf\u306b\u3068\u3063\u3066\u3001\u6b63\u78ba\u306a\u60c5\u5831\u3068\u65e9\u671f\u306e\u533b\u7642\u9023\u643a\u304c\u4f55\u3088\u308a\u306e\u652f\u3048\u306b\u306a\u308a\u307e\u3059\u3002\u6c17\u306b\u306a\u308b\u75c7\u72b6\u3084\u691c\u67fb\u306b\u3064\u3044\u3066\u8a73\u3057\u304f\u76f8\u8ac7\u3057\u305f\u3044\u65b9\u306f\u3001<a href=\"https:\/\/mypage-nipt-reservation.hiro-clinic.or.jp\/registration\" target=\"_blank\" rel=\"noopener\">NIPT\u306e\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/a>\u3001\u307e\u305f\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/line-registration\/\" target=\"_blank\" rel=\"noopener\">LINE\u3067\u7121\u6599\u76f8\u8ac7<\/a>\u304b\u3089\u304a\u6c17\u8efd\u306b\u3054\u9023\u7d61\u304f\u3060\u3055\u3044\u3002\u304a\u96fb\u8a71\u3067\u306e\u304a\u554f\u3044\u5408\u308f\u305b\u306f0120-169-629\u3067\u53d7\u3051\u4ed8\u3051\u3066\u3044\u307e\u3059\u3002<\/p>\n\n    <a href=\"\/nipt\/xp11-23-microdeletion-syndrome\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">Xp11.23 \u5fae\u5c0f\u6b20\u5931\u75c7\u5019\u7fa4 <\/div>\n          <div class=\"blog-card-excerpt\">Xp11.23\u5fae\u5c0f\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u3001X\u67d3\u8272\u4f53\u306ep11.23\u9818\u57df\u306e\u6b20\u5931\u306b\u3088\u308a\u767a\u75c7\u3057\u3001\u767a\u9054\u9045\u5ef6\u3001\u77e5\u7684\u969c\u5bb3\u3001\u884c\u52d5\u554f\u984c\u3001\u5185\u81d3\u306e\u7570\u5e38\u306a\u3069\u306e\u75c7\u72b6\u304c\u73fe\u308c\u307e\u3059\u3002&#8230;<\/div>\n      <\/div>\n    <\/a>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u598a\u5a20\u4e2d\u306e\u30ea\u30b9\u30af\u7ba1\u7406\u306b<br \/>\nNIPT\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p>&nbsp;<\/p>\n<\/div>\n<\/div>\n\n\n<div style=\"border:solid #eee 0.05rem;background-color: #fafafa;padding:2% 4%;margin:2rem 0;\">\n<p><strong>\u76e3\u4fee\u8005<\/strong>\uff1a\u5ca1\u535a\u53f2\uff08\u304a\u304b \u3072\u308d\u3057\uff09\uff0f\u533b\u7642\u6cd5\u4eba\u793e\u56e3\u798f\u7f8e\u4f1a \u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u7d71\u62ec\u9662\u9577\u30fbLabo Director\u3002\u6176\u61c9\u7fa9\u587e\u5927\u5b66\u533b\u5b66\u90e8\u5352\u696d\u3002\u65e5\u672c\u304a\u3088\u3073\u30a2\u30e1\u30ea\u30ab\u306e\u533b\u5e2b\u56fd\u5bb6\u8a66\u9a13\u306b\u5408\u683c\u3057\u3001\u65e5\u672c\u306b20\u4eba\u307b\u3069\u3057\u304b\u3044\u306a\u3044\u30e9\u30dc\u30c7\u30a3\u30ec\u30af\u30bf\u30fc\u8cc7\u683c\u3092\u4fdd\u6709\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n<\/div>\n\n<p style=\"font-size:0.85rem;color:#888;\">\u53c2\u8003\u60c5\u5831\uff1a<a href=\"https:\/\/omim.org\/entry\/612530\" target=\"_blank\" rel=\"noopener\">OMIM #612530<\/a> \uff0f <a href=\"https:\/\/www.orpha.net\/en\/disease\/detail\/250999\" target=\"_blank\" rel=\"noopener\">Orphanet ORPHA:250999<\/a> \uff0f <a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/3738\/chromosome-1q41-q42-deletion-syndrome\" target=\"_blank\" rel=\"noopener\">GARD\uff08NIH\uff09<\/a> \uff0f <a href=\"https:\/\/rarediseases.org\/mondo-disease\/chromosome-1q41-q42-deletion-syndrome\/\" target=\"_blank\" rel=\"noopener\">NORD<\/a> \uff0f <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/24357076\/\" target=\"_blank\" rel=\"noopener\">PubMed\uff08FBXO28\u7814\u7a76\uff09<\/a><\/p>\n\n<script 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