{"id":83635,"date":"2024-11-15T16:06:53","date_gmt":"2024-11-15T07:06:53","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=83635"},"modified":"2026-07-08T22:38:38","modified_gmt":"2026-07-08T13:38:38","slug":"22q11-2-deletion-syndrome-lcr22-b-c-d","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/22q11-2-deletion-syndrome-lcr22-b-c-d\/","title":{"rendered":"22q11.2 \u6b20\u5931\u75c7\u5019\u7fa4 (LCR22 B\/C-D)"},"content":{"rendered":"\n<div style=\"border:solid #ffe6e6 0.8rem;background-color: #fff9f9;padding:3% 5%;margin:1rem 0 3rem;\">\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\/22q11-2-deletion-syndrome-lcr22-b-c-d\/#%E3%81%93%E3%81%AE%E8%A8%98%E4%BA%8B%E3%81%A7%E3%82%8F%E3%81%8B%E3%82%8B%E3%81%93%E3%81%A8\" >\u3053\u306e\u8a18\u4e8b\u3067\u308f\u304b\u308b\u3053\u3068<\/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\/22q11-2-deletion-syndrome-lcr22-b-c-d\/#22q112%E6%AC%A0%E5%A4%B1%E7%97%87%E5%80%99%E7%BE%A4%E3%81%A8NIPT%EF%BD%9C%E6%A4%9C%E6%9F%BB%E3%81%A7%E5%88%86%E3%81%8B%E3%82%8B%E3%81%93%E3%81%A8%E3%83%BB%E5%88%86%E3%81%8B%E3%82%89%E3%81%AA%E3%81%84%E3%81%93%E3%81%A8\" >22q11.2\u6b20\u5931\u75c7\u5019\u7fa4\u3068NIPT\uff5c\u691c\u67fb\u3067\u5206\u304b\u308b\u3053\u3068\u30fb\u5206\u304b\u3089\u306a\u3044\u3053\u3068<\/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\/22q11-2-deletion-syndrome-lcr22-b-c-d\/#%E7%97%85%E6%B0%97%E3%81%AE%E5%8E%9F%E5%9B%A0%EF%BD%9CLCR22_BC%E3%81%8B%E3%82%89D%E9%A0%98%E5%9F%9F%E3%81%AE%E6%AC%A0%E5%A4%B1%E3%81%A8%E3%81%AF\" >\u75c5\u6c17\u306e\u539f\u56e0\uff5cLCR22 B\/C\u304b\u3089D\u9818\u57df\u306e\u6b20\u5931\u3068\u306f<\/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\/22q11-2-deletion-syndrome-lcr22-b-c-d\/#%E5%85%B8%E5%9E%8B%E7%9A%84%E3%81%AA22q112%E6%AC%A0%E5%A4%B1%E7%97%87%E5%80%99%E7%BE%A4%EF%BC%88%E3%83%87%E3%82%A3%E3%82%B8%E3%83%A7%E3%83%BC%E3%82%B8%E7%97%87%E5%80%99%E7%BE%A4%EF%BC%89%E3%81%A8%E3%81%AE%E9%81%95%E3%81%84%EF%BD%9CTBX1%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AE%E6%9C%89%E7%84%A1\" >\u5178\u578b\u7684\u306a22q11.2\u6b20\u5931\u75c7\u5019\u7fa4\uff08\u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa4\uff09\u3068\u306e\u9055\u3044\uff5cTBX1\u907a\u4f1d\u5b50\u306e\u6709\u7121<\/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\/22q11-2-deletion-syndrome-lcr22-b-c-d\/#%E7%97%87%E7%8A%B6%EF%BD%9C%E7%8F%BE%E3%82%8C%E6%96%B9%E3%81%AB%E3%81%AF%E5%80%8B%E4%BA%BA%E5%B7%AE%E3%81%8C%E3%81%82%E3%82%8A%E3%81%BE%E3%81%99\" >\u75c7\u72b6\uff5c\u73fe\u308c\u65b9\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059<\/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\/22q11-2-deletion-syndrome-lcr22-b-c-d\/#%E6%B2%BB%E7%99%82%EF%BD%9C%E5%A4%9A%E8%81%B7%E7%A8%AE%E3%81%AB%E3%82%88%E3%82%8B%E6%94%AF%E6%8F%B4%E3%81%8C%E4%B8%AD%E5%BF%83%E3%81%A7%E3%81%99\" >\u6cbb\u7642\uff5c\u591a\u8077\u7a2e\u306b\u3088\u308b\u652f\u63f4\u304c\u4e2d\u5fc3\u3067\u3059<\/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\/22q11-2-deletion-syndrome-lcr22-b-c-d\/#%E4%BA%88%E5%BE%8C%EF%BD%9C%E6%97%A9%E6%9C%9F%E3%81%8B%E3%82%89%E3%81%AE%E6%94%AF%E6%8F%B4%E3%81%A7%E7%94%9F%E6%B4%BB%E3%81%AE%E8%B3%AA%E3%82%92%E9%AB%98%E3%82%81%E3%82%89%E3%82%8C%E3%81%BE%E3%81%99\" >\u4e88\u5f8c\uff5c\u65e9\u671f\u304b\u3089\u306e\u652f\u63f4\u3067\u751f\u6d3b\u306e\u8cea\u3092\u9ad8\u3081\u3089\u308c\u307e\u3059<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/22q11-2-deletion-syndrome-lcr22-b-c-d\/#%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%EF%BD%9C%E4%B8%80%E4%BA%BA%E3%81%A7%E6%8A%B1%E3%81%88%E8%BE%BC%E3%81%BE%E3%81%AA%E3%81%84%E3%81%A7%E3%81%8F%E3%81%A0%E3%81%95%E3%81%84\" >\u3054\u5bb6\u65cf\u306e\u8ca0\u62c5\u3068\u30b5\u30dd\u30fc\u30c8\uff5c\u4e00\u4eba\u3067\u62b1\u3048\u8fbc\u307e\u306a\u3044\u3067\u304f\u3060\u3055\u3044<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/22q11-2-deletion-syndrome-lcr22-b-c-d\/#%E3%82%88%E3%81%8F%E3%81%82%E3%82%8B%E8%B3%AA%E5%95%8F%EF%BC%88FAQ%EF%BC%89\" >\u3088\u304f\u3042\u308b\u8cea\u554f\uff08FAQ\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/22q11-2-deletion-syndrome-lcr22-b-c-d\/#%E3%81%BE%E3%81%A8%E3%82%81%EF%BD%9C%E6%AC%A0%E5%A4%B1%E7%AF%84%E5%9B%B2%E3%82%92%E7%9F%A5%E3%82%8A%E3%80%81%E5%B0%82%E9%96%80%E5%AE%B6%E3%81%A8%E4%B8%80%E7%B7%92%E3%81%AB%E8%A6%8B%E9%80%9A%E3%81%97%E3%82%92%E7%AB%8B%E3%81%A6%E3%81%BE%E3%81%97%E3%82%87%E3%81%86\" >\u307e\u3068\u3081\uff5c\u6b20\u5931\u7bc4\u56f2\u3092\u77e5\u308a\u3001\u5c02\u9580\u5bb6\u3068\u4e00\u7dd2\u306b\u898b\u901a\u3057\u3092\u7acb\u3066\u307e\u3057\u3087\u3046<\/a><\/li><\/ul><\/nav><\/div>\n<h2 style=\"margin-top:1rem;\"><span class=\"ez-toc-section\" id=\"%E3%81%93%E3%81%AE%E8%A8%98%E4%BA%8B%E3%81%A7%E3%82%8F%E3%81%8B%E3%82%8B%E3%81%93%E3%81%A8\"><\/span>\u3053\u306e\u8a18\u4e8b\u3067\u308f\u304b\u308b\u3053\u3068<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p><strong>22q11.2\u6b20\u5931\u75c7\u5019\u7fa4\uff08LCR22 B\/C-D\uff09<\/strong>\u306f\u300122\u756a\u67d3\u8272\u4f53\u9577\u8155\u306b\u3042\u308bLCR22 B\/C\u304b\u3089D\u306e\u9818\u57df\u304c\u6b20\u5931\u3059\u308b\u3053\u3068\u3067\u751f\u3058\u308b\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002\u540c\u3058\u300c22q11.2\u6b20\u5931\u75c7\u5019\u7fa4\u300d\u3068\u3044\u3046\u540d\u79f0\u3067\u3082\u3001<strong>\u5178\u578b\u7684\u306a\u6b20\u5931\uff08LCR22A-D\u3001\u3044\u308f\u3086\u308b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/microdeletion-syndrome\/\">\u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa4<\/a>\u3008DiGeorge\u75c7\u5019\u7fa4\u3009\uff09<\/strong>\u3068\u306f\u7bc4\u56f2\u304c\u7570\u306a\u308a\u3001\u5fc3\u81d3\u3084\u53e3\u84cb\u306e\u5f62\u6210\u306b\u95a2\u308f\u308b<strong>TBX1\u907a\u4f1d\u5b50<\/strong>\u3092\u542b\u307e\u306a\u3044\u3053\u3068\u304c\u591a\u3044\u305f\u3081\u3001\u75c7\u72b6\u306e\u51fa\u65b9\u304c\u7570\u306a\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002\u4e3b\u306a\u75c7\u72b6\u306b\u306f\u767a\u9054\u306e\u9045\u308c\u3001\u514d\u75ab\u6a5f\u80fd\u306e\u4f4e\u4e0b\u3001\u5148\u5929\u6027\u5fc3\u75be\u60a3\u3001\u884c\u52d5\u3084\u5b66\u7fd2\u306e\u7279\u6027\u3001\u7279\u5fb4\u7684\u306a\u9854\u3064\u304d\u306a\u3069\u304c\u6319\u3052\u3089\u308c\u307e\u3059\u304c\u3001\u73fe\u308c\u65b9\u306b\u306f\u500b\u4eba\u5dee\u304c\u5927\u304d\u3044\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u8a18\u4e8b\u3067\u306f\u3001\u539f\u56e0\u306e\u4ed5\u7d44\u307f\u3001\u5178\u578b\u578b\u3068\u306e\u9055\u3044\u3001\u75c7\u72b6\u3068\u6cbb\u7642\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>\uff08\u65b0\u578b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\uff09\u3067\u5206\u304b\u308b\u3053\u3068\u3068\u5206\u304b\u3089\u306a\u3044\u3053\u3068\u3001\u3054\u5bb6\u65cf\u3078\u306e\u652f\u63f4\u307e\u3067\u3092\u6574\u7406\u3057\u3066\u304a\u4f1d\u3048\u3057\u307e\u3059\u3002<\/p>\n<ul style=\"margin:0.5rem 0 0;padding-left:1.2em;line-height:1.9;\">\n<li>LCR22 B\/C-D\u9818\u57df\u306e\u6b20\u5931\u304c\u8d77\u3053\u308b\u4ed5\u7d44\u307f\u3068\u5178\u578b\u578b\u3068\u306e\u9055\u3044<\/li>\n<li>TBX1\u907a\u4f1d\u5b50\u306e\u6709\u7121\u304c\u75c7\u72b6\u306b\u4e0e\u3048\u308b\u5f71\u97ff\u306e\u8003\u3048\u65b9<\/li>\n<li>NIPT\u3067\u5206\u304b\u308b\u3053\u3068\u30fb\u5206\u304b\u3089\u306a\u3044\u3053\u3068\uff08<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u306b\u3088\u308b\u78ba\u5b9a\u306e\u5fc5\u8981\u6027\uff09<\/li>\n<li>\u75c7\u72b6\u30fb\u6cbb\u7642\u30fb\u4e88\u5f8c\u306e\u898b\u901a\u3057<\/li>\n<li>\u3054\u5bb6\u65cf\u304c\u4f7f\u3048\u308b\u76f8\u8ac7\u5148\u3068\u30b5\u30dd\u30fc\u30c8\u4f53\u5236<\/li>\n<\/ul>\n<\/div>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u598a\u5a20\u4e2d\u306e\u30ea\u30b9\u30af\u7ba1\u7406\u306b<br \/>\nNIPT\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p>&nbsp;<\/p>\n<\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"22q112%E6%AC%A0%E5%A4%B1%E7%97%87%E5%80%99%E7%BE%A4%E3%81%A8NIPT%EF%BD%9C%E6%A4%9C%E6%9F%BB%E3%81%A7%E5%88%86%E3%81%8B%E3%82%8B%E3%81%93%E3%81%A8%E3%83%BB%E5%88%86%E3%81%8B%E3%82%89%E3%81%AA%E3%81%84%E3%81%93%E3%81%A8\"><\/span>22q11.2\u6b20\u5931\u75c7\u5019\u7fa4\u3068NIPT\uff5c\u691c\u67fb\u3067\u5206\u304b\u308b\u3053\u3068\u30fb\u5206\u304b\u3089\u306a\u3044\u3053\u3068<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>\uff08\u65b0\u578b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\uff09\u306f\u3001\u307e\u305a21\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>\u3084\u6027\u67d3\u8272\u4f53\u306e\u69cb\u6210\u3092\u8abf\u3079\u308b\u305f\u3081\u306e\u691c\u67fb\u3067\u300122q11.2\u9818\u57df\u306e\u3088\u3046\u306a<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u3092\u8abf\u3079\u308b\u306b\u306f\u3001\u5bfe\u8c61\u3092\u5e83\u3052\u305f\u691c\u67fb\u3092\u9078\u3076\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u3002<\/strong>\u6a19\u6e96\u7684\u306aNIPT\u306e\u30d1\u30cd\u30eb\u306f\u3001\u983b\u5ea6\u306e\u9ad8\u3044\u67d3\u8272\u4f53\u6570\u7684\u7570\u5e38\u3092\u4e3b\u306a\u5bfe\u8c61\u3068\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4e00\u65b9\u3067\u3001\u30b2\u30ce\u30e0\u5168\u57df\u3092\u89e3\u6790\u3059\u308b\u62e1\u5927\u30bf\u30a4\u30d7\u306eNIPT\u3067\u306f\u300122q11.2\u6b20\u5931\u3092\u542b\u3080\u4e00\u90e8\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u9818\u57df\u3082\u691c\u67fb\u5bfe\u8c61\u306b\u52a0\u308f\u3063\u3066\u3044\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002\u305f\u3060\u3057\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u306e\u691c\u51fa\u7cbe\u5ea6\u306f\u300121\u30c8\u30ea\u30bd\u30df\u30fc\u306a\u3069\u983b\u5ea6\u306e\u9ad8\u3044<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosomal-abnormality\/\">\u67d3\u8272\u4f53\u7570\u5e38<\/a>\u306b\u6bd4\u3079\u308b\u3068\u307e\u3060\u691c\u8a3c\u6bb5\u968e\u306b\u3042\u308b\u3068\u3044\u308f\u308c\u3066\u3044\u307e\u3059\u3002\u7279\u306b\u3001\u3053\u306e\u8a18\u4e8b\u3067\u6271\u3046LCR22 B\/C\u304b\u3089D\u306e\u3088\u3046\u306a\u7bc4\u56f2\u306e\u72ed\u3044\u975e\u5178\u578b\u578b\u306f\u3001\u5178\u578b\u7684\u306a\u6b20\u5931\u3088\u308a\u3082\u3055\u3089\u306b\u898b\u3064\u3051\u306b\u304f\u3044\u3068\u8003\u3048\u3089\u308c\u3066\u304a\u308a\u3001\u78ba\u7acb\u3057\u305f\u691c\u51fa\u611f\u5ea6\u306e\u6570\u5024\u306f\u516c\u8868\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001NIPT\u306f\u3042\u304f\u307e\u3067<strong>\u975e\u78ba\u5b9a\u7684\u306a\u691c\u67fb<\/strong>\u3067\u3059\u3002\u967d\u6027\u3068\u3044\u3046\u7d50\u679c\u304c\u51fa\u305f\u5834\u5408\u3084\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u304c\u7591\u308f\u308c\u305f\u5834\u5408\u306b\u306f\u3001<strong><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u306b\u3088\u308b\u67d3\u8272\u4f53<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u89e3\u6790\uff08CMA\uff09<\/strong>\u3067\u78ba\u5b9a\u8a3a\u65ad\u3092\u53d7\u3051\u308b\u6d41\u308c\u306b\u306a\u308a\u307e\u3059\u3002\u5f53\u9662\u3067\u76f8\u8ac7\u3092\u53d7\u3051\u3066\u3044\u308b\u3068\u3001\u300cNIPT\u3067\u7570\u5e38\u304c\u306a\u3051\u308c\u3070\u5b89\u5fc3\u3057\u3066\u3088\u3044\u3067\u3059\u304b\u300d\u3068\u5c0b\u306d\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u691c\u67fb\u3054\u3068\u306b\u8abf\u3079\u3089\u308c\u308b\u7bc4\u56f2\u306f\u7570\u306a\u308b\u305f\u3081\u3001\u4e8b\u524d\u306b\u3088\u304f\u78ba\u8a8d\u3057\u3066\u304a\u304f\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u3002\u691c\u67fb\u306e\u57fa\u672c\u7684\u306a\u4ed5\u7d44\u307f\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/principles-of-nipt\/\">NIPT\u306e\u57fa\u790e\u77e5\u8b58<\/a>\u306e\u30da\u30fc\u30b8\u3082\u3042\u308f\u305b\u3066\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%97%85%E6%B0%97%E3%81%AE%E5%8E%9F%E5%9B%A0%EF%BD%9CLCR22_BC%E3%81%8B%E3%82%89D%E9%A0%98%E5%9F%9F%E3%81%AE%E6%AC%A0%E5%A4%B1%E3%81%A8%E3%81%AF\"><\/span>\u75c5\u6c17\u306e\u539f\u56e0\uff5cLCR22 B\/C\u304b\u3089D\u9818\u57df\u306e\u6b20\u5931\u3068\u306f<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>22q11.2\u6b20\u5931\u75c7\u5019\u7fa4\uff08LCR22 B\/C-D\uff09\u306f\u300122\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\u306b\u3042\u308bLCR22\u3068\u3044\u3046\u7e70\u308a\u8fd4\u3057\u914d\u5217\u306b\u631f\u307e\u308c\u305f\u533a\u753b\u306e\u3046\u3061\u3001B\/C\u304b\u3089D\u307e\u3067\u306e\u7bc4\u56f2\u304c\u6b20\u5931\u3059\u308b\u3053\u3068\u3067\u767a\u75c7\u3057\u307e\u3059\u3002<\/strong>\u3053\u306e\u9818\u57df\u306b\u306fLCR22A\u30fbLCR22B\u30fbLCR22C\u30fbLCR22D\u3068\u3044\u30464\u3064\u306e\u76ee\u5370\u3068\u306a\u308b\u914d\u5217\u304c\u3042\u308a\u3001\u3069\u3053\u304b\u3089\u3069\u3053\u307e\u3067\u304c\u6b20\u5931\u3059\u308b\u304b\u306b\u3088\u3063\u3066\u3001\u5f71\u97ff\u3092\u53d7\u3051\u308b\u907a\u4f1d\u5b50\u306e\u7d44\u307f\u5408\u308f\u305b\u304c\u5909\u308f\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3082\u3063\u3068\u3082\u3088\u304f\u77e5\u3089\u308c\u3066\u3044\u308b\u300c22q11.2\u6b20\u5931\u75c7\u5019\u7fa4\u300d\u306f\u3001LCR22A\u304b\u3089D\u307e\u3067\u306e\u5e83\u3044\u7bc4\u56f2\u304c\u307e\u308b\u3054\u3068\u6b20\u5931\u3059\u308b<strong>\u5178\u578b\u578b<\/strong>\u3067\u3059\u3002\u3053\u308c\u306b\u5bfe\u3057\u3001\u4eca\u56de\u53d6\u308a\u4e0a\u3052\u308bLCR22 B\/C\u304b\u3089D\u306e\u6b20\u5931\u306f\u3001\u5178\u578b\u578b\u3088\u308a\u3082\u72ed\u304f\u3001\u3057\u304b\u3082\u4e0b\u6d41\u5074\u3060\u3051\u304c\u629c\u3051\u843d\u3061\u308b<strong>\u975e\u5178\u578b\u30fb\u30cd\u30b9\u30c8\u578b<\/strong>\u306b\u3042\u305f\u308a\u307e\u3059\u3002\u6b20\u5931\u306e\u7bc4\u56f2\u306b\u3088\u3063\u3066\u5f71\u97ff\u3092\u53d7\u3051\u308b\u907a\u4f1d\u5b50\u306e\u6570\u3084\u7a2e\u985e\u304c\u5909\u308f\u308b\u305f\u3081\u3001\u540c\u3058\u300c22q11.2\u6b20\u5931\u300d\u3068\u3044\u3046\u540d\u524d\u304c\u3064\u3044\u3066\u3044\u3066\u3082\u3001\u73fe\u308c\u308b\u75c7\u72b6\u306e\u5e45\u306f\u4e00\u69d8\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u6b20\u5931\u306f\u591a\u304f\u306e\u5834\u5408\u3001\u4e21\u89aa\u304b\u3089\u53d7\u3051\u7d99\u3044\u3060\u3082\u306e\u3067\u306f\u306a\u304f\u3001\u5375\u5b50\u3084\u7cbe\u5b50\u304c\u4f5c\u3089\u308c\u308b\u904e\u7a0b\u3001\u3042\u308b\u3044\u306f\u53d7\u7cbe\u5f8c\u306e\u7d30\u80de\u5206\u88c2\u306e\u904e\u7a0b\u3067\u5076\u7136\u751f\u3058\u308b<strong>\u65b0\u898f\uff08\u30c7\u30ce\u30dc\uff09\u306e\u5909\u5316<\/strong>\u3068\u3057\u3066\u8d77\u3053\u308a\u307e\u3059\u3002\u307e\u308c\u306b\u3001\u89aa\u306e\u3069\u3061\u3089\u304b\u304c\u540c\u3058\u6b20\u5931\u3092\u6301\u3061\u3001\u75c7\u72b6\u304c\u8efd\u3044\u3001\u307e\u305f\u306f\u73fe\u308c\u3066\u3044\u306a\u3044\u30b1\u30fc\u30b9\u3082\u3042\u308b\u305f\u3081\u3001\u5bb6\u65cf\u5185\u3067\u306e\u518d\u767a\u3092\u8003\u3048\u308b\u969b\u306f\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u306e\u78ba\u8a8d\u304c\u52a9\u3051\u306b\u306a\u308a\u307e\u3059\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosomal-abnormality\/\">\u67d3\u8272\u4f53\u7570\u5e38<\/a>\u5168\u822c\u306e\u8003\u3048\u65b9\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosomal-abnormality\/\">\u67d3\u8272\u4f53\u7570\u5e38\u306b\u3064\u3044\u3066<\/a>\u3067\u3082\u89e3\u8aac\u3057\u3066\u3044\u307e\u3059\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u75c7\u5019\u7fa4\u306b\u306f\u3055\u307e\u3056\u307e\u306a\u7a2e\u985e\u304c\u3042\u308a\u3001\u8a73\u3057\u3044\u60c5\u5831\u306f<a href=\"https:\/\/www.nanbyou.or.jp\/\">\u96e3\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/a>\u3067\u3082\u78ba\u8a8d\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/2q33-1_deletion_syndrome\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">2q33.1\u6b20\u5931\u75c7\u5019\u7fa4\uff082q33.1 microdeletion syndrome\uff09 <\/div>\n          <div class=\"blog-card-excerpt\">SATB2\u95a2\u9023\u75c7\u5019\u7fa4\uff08SAS\uff09\u306f\u3001SATB2\u907a\u4f1d\u5b50\u306e\u7570\u5e38\u306b\u3088\u308a\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u7a00\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002\u3053\u306e\u8a18\u4e8b\u3067\u306f\u3001SAS\u3068\u30b0\u30e9\u30b9\u75c7\u5019\u7fa4\u306e\u75c7\u72b6\u3001\u539f...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%85%B8%E5%9E%8B%E7%9A%84%E3%81%AA22q112%E6%AC%A0%E5%A4%B1%E7%97%87%E5%80%99%E7%BE%A4%EF%BC%88%E3%83%87%E3%82%A3%E3%82%B8%E3%83%A7%E3%83%BC%E3%82%B8%E7%97%87%E5%80%99%E7%BE%A4%EF%BC%89%E3%81%A8%E3%81%AE%E9%81%95%E3%81%84%EF%BD%9CTBX1%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AE%E6%9C%89%E7%84%A1\"><\/span>\u5178\u578b\u7684\u306a22q11.2\u6b20\u5931\u75c7\u5019\u7fa4\uff08\u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa4\uff09\u3068\u306e\u9055\u3044\uff5cTBX1\u907a\u4f1d\u5b50\u306e\u6709\u7121<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>LCR22 B\/C\u304b\u3089D\u306e\u6b20\u5931\u306f\u3001\u5178\u578b\u578b\u306e22q11.2\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u306f\u7570\u306a\u308a\u3001\u5fc3\u81d3\u3084\u53e3\u84cb\u306e\u5f62\u6210\u306b\u6df1\u304f\u95a2\u308f\u308bTBX1\u907a\u4f1d\u5b50\u3092\u542b\u307e\u306a\u3044\u3053\u3068\u304c\u591a\u3044\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/strong>\u305d\u306e\u305f\u3081\u3001\u5178\u578b\u578b\u306b\u6bd4\u3079\u3066\u75c7\u72b6\u304c\u8efd\u304f\u51fa\u308b\u5834\u5408\u3084\u3001\u73fe\u308c\u65b9\u304c\u7570\u306a\u308b\u5834\u5408\u304c\u3042\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5178\u578b\u7684\u306a22q11.2\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/microdeletion-syndrome\/\">\u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa4<\/a>\u3068\u3044\u3046\u5225\u540d\u3067\u3082\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002LCR22A\u304b\u3089D\u307e\u3067\u306e\u5e83\u3044\u7bc4\u56f2\u304c\u6b20\u5931\u3059\u308b\u3053\u3068\u3067\u3001\u5148\u5929\u6027\u5fc3\u75be\u60a3\u3084\u53e3\u84cb\u88c2\u30fb\u53e3\u84cb\u306e\u6a5f\u80fd\u7570\u5e38\u3001\u526f\u7532\u72b6\u817a\u6a5f\u80fd\u4f4e\u4e0b\u306b\u3088\u308b\u4f4e\u30ab\u30eb\u30b7\u30a6\u30e0\u8840\u75c7\u3001\u80f8\u817a\u306e\u5f62\u6210\u4e0d\u5168\u306b\u4f34\u3046\u514d\u75ab\u306e\u5f31\u3055\u306a\u3069\u304c\u3001\u6bd4\u8f03\u7684\u307e\u3068\u307e\u3063\u3066\u73fe\u308c\u3084\u3059\u3044\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u5178\u578b\u578b\u75c7\u72b6\u306e\u80cc\u666f\u306b\u3042\u308b\u3082\u306e\u3001\u305d\u308c\u306fTBX1\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u3067\u3059\u3002TBX1\u907a\u4f1d\u5b50\u306f\u3001\u5fc3\u81d3\u3084\u54bd\u982d\u30fb\u80f8\u817a\u306e\u767a\u751f\u306b\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u3066\u3044\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u308c\u306b\u5bfe\u3057\u3001LCR22 B\/C\u304b\u3089D\u306e\u3088\u3046\u306a\u4e0b\u6d41\u5074\u3060\u3051\u306e\u6b20\u5931\u3067\u306f\u3001TBX1\u907a\u4f1d\u5b50\u304c\u7bc4\u56f2\u306b\u542b\u307e\u308c\u306a\u3044\u30b1\u30fc\u30b9\u304c\u591a\u304f\u3001\u5178\u578b\u578b\u3067\u76ee\u7acb\u3061\u3084\u3059\u3044\u5fc3\u75be\u60a3\u3084\u53e3\u84cb\u306e\u7570\u5e38\u304c\u8efd\u5ea6\u306b\u3068\u3069\u307e\u308b\u3001\u3042\u308b\u3044\u306f\u76ee\u7acb\u305f\u306a\u3044\u3053\u3068\u3082\u3042\u308b\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u305f\u3060\u3057\u3001\u6b20\u5931\u306b\u542b\u307e\u308c\u308b\u4ed6\u306e\u907a\u4f1d\u5b50\u306e\u50cd\u304d\u306b\u3088\u3063\u3066\u3001\u767a\u9054\u306e\u9045\u308c\u3084\u884c\u52d5\u9762\u306e\u7279\u6027\u306f\u5178\u578b\u578b\u3068\u540c\u69d8\u306b\u73fe\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u3001\u300cTBX1\u304c\u306a\u3044\u304b\u3089\u8efd\u75c7\u300d\u3068\u5358\u7d14\u306b\u306f\u8a00\u3044\u5207\u308c\u307e\u305b\u3093\u3002\u540c\u3058\u975e\u5178\u578b\u6b20\u5931\u3092\u6301\u3064\u304a\u5b50\u3055\u3093\u3067\u3082\u3001\u73fe\u308c\u308b\u75c7\u72b6\u306e\u7d44\u307f\u5408\u308f\u305b\u3084\u7a0b\u5ea6\u306b\u306f\u5e45\u304c\u3042\u308a\u3001\u4e88\u6e2c\u306f\u7c21\u5358\u3067\u306f\u306a\u3044\u3068\u3044\u3046\u306e\u304c\u5b9f\u60c5\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u3088\u3046\u306b\u3001\u6b20\u5931\u306e\u4f4d\u7f6e\u3084\u7bc4\u56f2\u306b\u3088\u3063\u3066\u75c7\u72b6\u306e\u51fa\u65b9\u304c\u5927\u304d\u304f\u5909\u308f\u308b\u305f\u3081\u3001<strong>\u6b63\u78ba\u306a\u898b\u901a\u3057\u3092\u7acb\u3066\u308b\u306b\u306f\u3001\u81e8\u5e8a\u907a\u4f1d\u5c02\u9580\u533b\u306b\u3088\u308b\u500b\u5225\u306e\u8a55\u4fa1\u304c\u6b20\u304b\u305b\u307e\u305b\u3093\u3002<\/strong>\u8840\u6db2\u3084\u7f8a\u6c34\u3092\u7528\u3044\u305f\u67d3\u8272\u4f53<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u89e3\u6790\uff08CMA\uff09\u3067\u6b20\u5931\u306e\u6b63\u78ba\u306a\u7bc4\u56f2\u3092\u78ba\u8a8d\u3057\u3001\u542b\u307e\u308c\u308b\u907a\u4f1d\u5b50\u3092\u8e0f\u307e\u3048\u305f\u3046\u3048\u3067\u3001\u4eca\u5f8c\u306e\u7d4c\u904e\u3092\u4e00\u7dd2\u306b\u8003\u3048\u3066\u3044\u304f\u6d41\u308c\u306b\u306a\u308a\u307e\u3059\u3002\u5225\u306e\u67d3\u8272\u4f53\u9818\u57df\u306e\u6b20\u5931\u3067\u767a\u9054\u3084\u884c\u52d5\u306e\u7279\u6027\u304c\u751f\u3058\u308b\u30b1\u30fc\u30b9\u3068\u3057\u3066<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/2q31_1\/\">2q31.1\u5fae\u5c0f\u6b20\u5931\u75c7\u5019\u7fa4<\/a>\u3082\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u75c7\u5019\u7fa4\u306b\u5171\u901a\u3059\u308b\u300c\u6b20\u5931\u7bc4\u56f2\u306b\u3088\u308b\u75c7\u72b6\u306e\u5e45\u300d\u3092\u7406\u89e3\u3057\u3066\u304a\u304f\u3068\u3001\u898b\u901a\u3057\u3092\u8003\u3048\u308b\u3046\u3048\u3067\u306e\u52a9\u3051\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%97%87%E7%8A%B6%EF%BD%9C%E7%8F%BE%E3%82%8C%E6%96%B9%E3%81%AB%E3%81%AF%E5%80%8B%E4%BA%BA%E5%B7%AE%E3%81%8C%E3%81%82%E3%82%8A%E3%81%BE%E3%81%99\"><\/span>\u75c7\u72b6\uff5c\u73fe\u308c\u65b9\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>22q11.2\u6b20\u5931\u75c7\u5019\u7fa4\uff08LCR22 B\/C-D\uff09\u306e\u75c7\u72b6\u306f\u4e00\u4eba\u3072\u3068\u308a\u7570\u306a\u308a\u3001\u3059\u3079\u3066\u304c\u305d\u308d\u3063\u3066\u73fe\u308c\u308b\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/strong>\u4ee3\u8868\u7684\u306a\u75c7\u72b6\u3068\u3057\u3066\u3001\u6b21\u306e\u3088\u3046\u306a\u3082\u306e\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u767a\u9054\u306e\u9762\u3067\u306f\u3001\u8a00\u8449\u3084\u904b\u52d5\u30b9\u30ad\u30eb\u306e\u7372\u5f97\u304c\u3086\u3063\u304f\u308a\u306b\u306a\u308b\u3053\u3068\u304c\u591a\u304f\u898b\u3089\u308c\u307e\u3059\u3002\u6b69\u304d\u59cb\u3081\u3084\u521d\u8a9e\u306e\u6642\u671f\u304c\u5e73\u5747\u3088\u308a\u9045\u308c\u308b\u5b50\u3069\u3082\u3082\u3044\u308c\u3070\u3001\u307b\u3068\u3093\u3069\u6c17\u3065\u304b\u308c\u306a\u3044\u7a0b\u5ea6\u306e\u5b50\u3069\u3082\u3082\u3044\u307e\u3059\u3002\u514d\u75ab\u306e\u50cd\u304d\u306b\u3082\u500b\u4eba\u5dee\u304c\u3042\u308a\u3001\u611f\u67d3\u75c7\u306b\u304b\u304b\u308a\u3084\u3059\u3044\u6642\u671f\u304c\u3042\u308b\u4e00\u65b9\u3001\u6210\u9577\u3068\u3068\u3082\u306b\u843d\u3061\u7740\u3044\u3066\u3044\u304f\u30b1\u30fc\u30b9\u3082\u5c11\u306a\u304f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u767a\u9054\u306e\u9045\u308c<\/strong>: \u8a00\u8a9e\u3084\u904b\u52d5\u30b9\u30ad\u30eb\u306e\u7372\u5f97\u304c\u3086\u308b\u3084\u304b\u306b\u306a\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u514d\u75ab\u6a5f\u80fd\u306e\u4f4e\u4e0b<\/strong>: \u611f\u67d3\u75c7\u306b\u304b\u304b\u308a\u3084\u3059\u3044\u6642\u671f\u304c\u7d9a\u304f\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5148\u5929\u6027\u5fc3\u75be\u60a3<\/strong>: \u5fc3\u81d3\u306e\u5f62\u6210\u7570\u5e38\u304c\u898b\u3064\u304b\u308a\u3001\u624b\u8853\u3092\u8981\u3059\u308b\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u884c\u52d5\u3084\u5b66\u7fd2\u306e\u9762\u3067\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\u3084\u6ce8\u610f\u6b20\u5982\u30fb\u591a\u52d5\u75c7\uff08<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/adhd-genetics-symptoms-support\/\">ADHD<\/a>\uff09\u306b\u4f3c\u305f\u7279\u6027\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u96c6\u56e3\u751f\u6d3b\u306e\u4e2d\u3067\u56f0\u308a\u3054\u3068\u306b\u3064\u306a\u304c\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002\u52a0\u3048\u3066\u3001\u4e00\u90e8\u306e\u304a\u5b50\u3055\u3093\u306b\u306f\u3001\u76ee\u306e\u307e\u308f\u308a\u3084\u8033\u306e\u5f62\u306a\u3069\u3001\u7279\u5fb4\u7684\u306a\u9854\u3064\u304d\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u7279\u6027\u306f\u6210\u9577\u6bb5\u968e\u306b\u3088\u3063\u3066\u76ee\u7acb\u3061\u65b9\u304c\u5909\u308f\u308b\u305f\u3081\u3001\u5c31\u5b66\u524d\u5f8c\u3067\u6c17\u3065\u304b\u308c\u308b\u3053\u3068\u3082\u73cd\u3057\u304f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u884c\u52d5\u30fb\u5b66\u7fd2\u306e\u7279\u6027<\/strong>: ASD\u3084ADHD\u306b\u4f3c\u305f\u884c\u52d5\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7279\u5fb4\u7684\u306a\u9854\u3064\u304d<\/strong>: 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id=\"%E6%B2%BB%E7%99%82%EF%BD%9C%E5%A4%9A%E8%81%B7%E7%A8%AE%E3%81%AB%E3%82%88%E3%82%8B%E6%94%AF%E6%8F%B4%E3%81%8C%E4%B8%AD%E5%BF%83%E3%81%A7%E3%81%99\"><\/span>\u6cbb\u7642\uff5c\u591a\u8077\u7a2e\u306b\u3088\u308b\u652f\u63f4\u304c\u4e2d\u5fc3\u3067\u3059<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>22q11.2\u6b20\u5931\u75c7\u5019\u7fa4\uff08LCR22 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id=\"%E4%BA%88%E5%BE%8C%EF%BD%9C%E6%97%A9%E6%9C%9F%E3%81%8B%E3%82%89%E3%81%AE%E6%94%AF%E6%8F%B4%E3%81%A7%E7%94%9F%E6%B4%BB%E3%81%AE%E8%B3%AA%E3%82%92%E9%AB%98%E3%82%81%E3%82%89%E3%82%8C%E3%81%BE%E3%81%99\"><\/span>\u4e88\u5f8c\uff5c\u65e9\u671f\u304b\u3089\u306e\u652f\u63f4\u3067\u751f\u6d3b\u306e\u8cea\u3092\u9ad8\u3081\u3089\u308c\u307e\u3059<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>22q11.2\u6b20\u5931\u75c7\u5019\u7fa4\uff08LCR22 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class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>22q11.2\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u304a\u5b50\u3055\u3093\u3092\u80b2\u3066\u308b\u3054\u5bb6\u65cf\u306b\u306f\u3001\u533b\u7642\u9762\u30fb\u7d4c\u6e08\u9762\u30fb\u5fc3\u7406\u9762\u3067\u306e\u8ca0\u62c5\u304c\u91cd\u306a\u308a\u3084\u3059\u3044\u3053\u3068\u304c\u5206\u304b\u3063\u3066\u3044\u307e\u3059\u3002<\/strong>\u9577\u671f\u7684\u306a\u901a\u9662\u3084\u7642\u80b2\u304c\u5fc5\u8981\u306b\u306a\u308b\u305f\u3081\u3001\u65e5\u3005\u306e\u751f\u6d3b\u306e\u4e2d\u3067\u8ca0\u62c5\u3092\u611f\u3058\u308b\u5834\u9762\u306f\u5c11\u306a\u304f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u533b\u7642\u7684\u306a\u8ca0\u62c5\u3068\u3057\u3066\u306f\u3001\u5b9a\u671f\u7684\u306a\u691c\u8a3a\u3084\u5fc3\u81d3\u30fb\u514d\u75ab\u306e\u7d4c\u904e\u89b3\u5bdf\u306b\u4f34\u3046\u901a\u9662\u306e\u8ca0\u62c5\u304c\u6319\u3052\u3089\u308c\u307e\u3059\u3002\u767a\u9054\u652f\u63f4\u306e\u9762\u3067\u306f\u3001\u7642\u80b2\u6a5f\u95a2\u3084\u7279\u5225\u652f\u63f4\u6559\u80b2\u3068\u306e\u9023\u643a\u306b\u6642\u9593\u3068\u52b4\u529b\u304c\u304b\u304b\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u7d4c\u6e08\u7684\u306b\u306f\u3001\u533b\u7642\u8cbb\u3084\u7642\u80b2\u8cbb\u304c\u304b\u3055\u3080\u5834\u5408\u304c\u3042\u308a\u3001\u516c\u7684\u306a\u652f\u63f4\u5236\u5ea6\u306e\u6d3b\u7528\u304c\u52a9\u3051\u306b\u306a\u308a\u307e\u3059\u3002\u5c0f\u5150\u671f\u306e\u6162\u6027\u7684\u306a\u75be\u60a3\u306b\u95a2\u3059\u308b\u516c\u7684\u652f\u63f4\u306b\u3064\u3044\u3066\u306f\u3001<a href=\"https:\/\/www.shouman.jp\/\">\u5c0f\u5150\u6162\u6027\u7279\u5b9a\u75be\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/a>\u3067\u6700\u65b0\u306e\u5236\u5ea6\u60c5\u5831\u3092\u78ba\u8a8d\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5fc3\u7406\u7684\u306a\u8ca0\u62c5\u3082\u898b\u904e\u3054\u305b\u307e\u305b\u3093\u3002\u8a3a\u65ad\u3092\u53d7\u3051\u305f\u76f4\u5f8c\u306f\u3001\u4eca\u5f8c\u306e\u898b\u901a\u3057\u304c\u5206\u304b\u3089\u305a\u4e0d\u5b89\u306b\u611f\u3058\u308b\u3054\u5bb6\u65cf\u304c\u591a\u3044\u306e\u304c\u5b9f\u60c5\u3067\u3059\u3002\u540c\u3058\u7acb\u5834\u306e\u5bb6\u65cf\u304c\u96c6\u307e\u308b\u60a3\u8005\u4f1a\u3084\u652f\u63f4\u56e3\u4f53\u3068\u3064\u306a\u304c\u308b\u3053\u3068\u3067\u3001\u60c5\u5831\u4ea4\u63db\u3084\u6c17\u6301\u3061\u306e\u5171\u6709\u304c\u3067\u304d\u3001\u5b64\u7acb\u611f\u304c\u548c\u3089\u3044\u3060\u3068\u3044\u3046\u58f0\u3082\u3088\u304f\u805e\u304d\u307e\u3059\u3002\u540c\u3058\u7acb\u5834\u306e\u5bb6\u65cf\u3068\u306e\u60c5\u5831\u4ea4\u63db\u3001\u305d\u3057\u3066\u5c02\u9580\u5bb6\u3078\u306e\u9060\u616e\u306e\u306a\u3044\u76f8\u8ac7\u3002\u5b64\u7acb\u3092\u9632\u3050\u4f55\u3088\u308a\u306e\u652f\u3048\u3067\u3059\u3002\u307b\u304b\u306e\u67d3\u8272\u4f53\u75be\u60a3\u306b\u3064\u3044\u3066\u3082\u60c5\u5831\u3092\u6574\u7406\u3057\u3066\u3044\u307e\u3059\u306e\u3067\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-down-syndrome\/\">\u67d3\u8272\u4f53\u75be\u60a3\u5168\u822c\u306b\u3064\u3044\u3066\u306e\u307e\u3068\u3081<\/a>\u3082\u3042\u308f\u305b\u3066\u3054\u89a7\u304f\u3060\u3055\u3044\u3002\u5730\u57df\u306e\u798f\u7949\u30b5\u30fc\u30d3\u30b9\u3084\u533b\u7642\u6a5f\u95a2\u3068\u306e\u9023\u643a\u3092\u9032\u3081\u3001\u5bb6\u65cf\u5168\u4f53\u3067\u7121\u7406\u306e\u306a\u3044\u652f\u63f4\u4f53\u5236\u3092\u7bc9\u3044\u3066\u3044\u3063\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u598a\u5a20\u4e2d\u306e\u30ea\u30b9\u30af\u7ba1\u7406\u306b<br \/>\nNIPT\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p>&nbsp;<\/p>\n<\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%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>\u3088\u304f\u3042\u308b\u8cea\u554f\uff08FAQ\uff09<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>22q11.2\u6b20\u5931\u75c7\u5019\u7fa4\uff08LCR22 B\/C-D\uff09\u306b\u3064\u3044\u3066\u3001\u5916\u6765\u3067\u3088\u304f\u5bc4\u305b\u3089\u308c\u308b\u8cea\u554f\u3092\u307e\u3068\u3081\u307e\u3057\u305f\u3002\u6c17\u306b\u306a\u308b\u9805\u76ee\u304b\u3089\u78ba\u8a8d\u3057\u3066\u307f\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<p><strong>Q1. NIPT\u306722q11.2\u6b20\u5931\u75c7\u5019\u7fa4\uff08LCR22 B\/C-D\uff09\u306f\u308f\u304b\u308a\u307e\u3059\u304b\uff1f<\/strong><br>A. \u6a19\u6e96\u7684\u306aNIPT\u306f\u4e3b\u306b21\u30fb18\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/patau-syndrome\/\">13\u30c8\u30ea\u30bd\u30df\u30fc<\/a>\u3068\u6027\u67d3\u8272\u4f53\u306e\u69cb\u6210\u3092\u5bfe\u8c61\u3068\u3057\u3066\u304a\u308a\u300122q11.2\u9818\u57df\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u306f\u5bfe\u8c61\u306b\u542b\u307e\u308c\u307e\u305b\u3093\u3002\u30b2\u30ce\u30e0\u5168\u57df\u3092\u8abf\u3079\u308b\u62e1\u5927\u30bf\u30a4\u30d7\u306eNIPT\u3067\u306f\u5bfe\u8c61\u306b\u542b\u307e\u308c\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u3053\u306e\u8a18\u4e8b\u3067\u6271\u3046\u3088\u3046\u306a\u975e\u5178\u578b\u30fb\u30cd\u30b9\u30c8\u578b\u306e\u6b20\u5931\u306f\u691c\u51fa\u304c\u3055\u3089\u306b\u96e3\u3057\u3044\u3068\u3055\u308c\u3001\u78ba\u7acb\u3057\u305f\u691c\u51fa\u7cbe\u5ea6\u306e\u6570\u5024\u306f\u516c\u8868\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002\u7591\u3044\u304c\u3042\u308b\u5834\u5408\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u306b\u3088\u308b\u67d3\u8272\u4f53<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u89e3\u6790\uff08CMA\uff09\u3067\u78ba\u5b9a\u8a3a\u65ad\u3092\u53d7\u3051\u308b\u6d41\u308c\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>Q2. \u5178\u578b\u7684\u306a22q11.2\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u4f55\u304c\u9055\u3044\u307e\u3059\u304b\uff1f<\/strong><br>A. \u5178\u578b\u578b\u306fLCR22A\u304b\u3089D\u307e\u3067\u306e\u5e83\u3044\u7bc4\u56f2\u304c\u6b20\u5931\u3057\u3001\u5fc3\u81d3\u3084\u53e3\u84cb\u306e\u767a\u751f\u306b\u95a2\u308f\u308bTBX1\u907a\u4f1d\u5b50\u3092\u542b\u307f\u307e\u3059\u3002LCR22 B\/C\u304b\u3089D\u306e\u6b20\u5931\u306f\u3088\u308a\u72ed\u3044\u4e0b\u6d41\u5074\u306e\u7bc4\u56f2\u306b\u3068\u3069\u307e\u308a\u3001TBX1\u907a\u4f1d\u5b50\u3092\u542b\u307e\u306a\u3044\u3053\u3068\u304c\u591a\u3044\u305f\u3081\u3001\u75c7\u72b6\u306e\u51fa\u65b9\u304c\u7570\u306a\u308b\u3001\u3042\u308b\u3044\u306f\u8efd\u5ea6\u306b\u306a\u308b\u5834\u5408\u304c\u3042\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u500b\u4eba\u5dee\u304c\u5927\u304d\u304f\u4e00\u6982\u306b\u306f\u8a00\u3048\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p><strong>Q3. \u306a\u305c\u3053\u306e\u75c5\u6c17\u304c\u8d77\u3053\u308b\u306e\u3067\u3059\u304b\uff1f\u907a\u4f1d\u3057\u307e\u3059\u304b\uff1f<\/strong><br>A. \u591a\u304f\u306f\u5375\u5b50\u3084\u7cbe\u5b50\u304c\u4f5c\u3089\u308c\u308b\u904e\u7a0b\u3001\u307e\u305f\u306f\u53d7\u7cbe\u5f8c\u306e\u7d30\u80de\u5206\u88c2\u306e\u904e\u7a0b\u3067\u5076\u7136\u751f\u3058\u308b\u65b0\u898f\u306e\u5909\u5316\uff08\u30c7\u30ce\u30dc\uff09\u306b\u3088\u308b\u3082\u306e\u3067\u3059\u3002\u307e\u308c\u306b\u89aa\u304b\u3089\u53d7\u3051\u7d99\u3050\u3053\u3068\u3082\u3042\u308b\u305f\u3081\u3001\u5bb6\u65cf\u8a08\u753b\u3092\u8003\u3048\u308b\u969b\u306f\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u78ba\u8a8d\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<p><strong>Q4. \u3069\u306e\u3088\u3046\u306a\u75c7\u72b6\u304c\u51fa\u3084\u3059\u3044\u3067\u3059\u304b\uff1f<\/strong><br>A. \u767a\u9054\u306e\u9045\u308c\u3001\u611f\u67d3\u75c7\u306b\u304b\u304b\u308a\u3084\u3059\u3044\u50be\u5411\u3001\u5148\u5929\u6027\u5fc3\u75be\u60a3\u3001\u884c\u52d5\u30fb\u5b66\u7fd2\u9762\u306e\u7279\u6027\u3001\u7279\u5fb4\u7684\u306a\u9854\u3064\u304d\u306a\u3069\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u305f\u3060\u3057\u5168\u3066\u306e\u75c7\u72b6\u304c\u305d\u308d\u3063\u3066\u73fe\u308c\u308b\u308f\u3051\u3067\u306f\u306a\u304f\u3001\u7a0b\u5ea6\u306b\u3082\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>Q5. \u6cbb\u7642\u3067\u6cbb\u308a\u307e\u3059\u304b\uff1f<\/strong><br>A. \u6b20\u5931\u305d\u306e\u3082\u306e\u3092\u89e3\u6d88\u3059\u308b\u6cbb\u7642\u6cd5\u306f\u306a\u304f\u3001\u75c7\u72b6\u306b\u5fdc\u3058\u305f\u767a\u9054\u652f\u63f4\u30fb\u533b\u7642\u7ba1\u7406\u3092\u7d44\u307f\u5408\u308f\u305b\u3066\u751f\u6d3b\u306e\u8cea\u3092\u9ad8\u3081\u3066\u3044\u304f\u3053\u3068\u304c\u6cbb\u7642\u306e\u4e2d\u5fc3\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>Q6. \u5bb6\u65cf\u304c\u5229\u7528\u3067\u304d\u308b\u652f\u63f4\u5236\u5ea6\u306f\u3042\u308a\u307e\u3059\u304b\uff1f<\/strong><br>A. \u5c0f\u5150\u671f\u306e\u6162\u6027\u75be\u60a3\u306b\u95a2\u3059\u308b\u533b\u7642\u8cbb\u52a9\u6210\u306a\u3069\u306e\u5236\u5ea6\u304c\u3042\u308a\u307e\u3059\u3002\u8a73\u7d30\u306f\u5c0f\u5150\u6162\u6027\u7279\u5b9a\u75be\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc\u3084\u96e3\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc\u306a\u3069\u516c\u7684\u6a5f\u95a2\u306e\u6700\u65b0\u60c5\u5831\u3092\u78ba\u8a8d\u3057\u305f\u3046\u3048\u3067\u3001\u62c5\u5f53\u533b\u3084\u533b\u7642\u30bd\u30fc\u30b7\u30e3\u30eb\u30ef\u30fc\u30ab\u30fc\u306b\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%EF%BD%9C%E6%AC%A0%E5%A4%B1%E7%AF%84%E5%9B%B2%E3%82%92%E7%9F%A5%E3%82%8A%E3%80%81%E5%B0%82%E9%96%80%E5%AE%B6%E3%81%A8%E4%B8%80%E7%B7%92%E3%81%AB%E8%A6%8B%E9%80%9A%E3%81%97%E3%82%92%E7%AB%8B%E3%81%A6%E3%81%BE%E3%81%97%E3%82%87%E3%81%86\"><\/span>\u307e\u3068\u3081\uff5c\u6b20\u5931\u7bc4\u56f2\u3092\u77e5\u308a\u3001\u5c02\u9580\u5bb6\u3068\u4e00\u7dd2\u306b\u898b\u901a\u3057\u3092\u7acb\u3066\u307e\u3057\u3087\u3046<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>22q11.2\u6b20\u5931\u75c7\u5019\u7fa4\uff08LCR22 B\/C-D\uff09\u306f\u3001\u540d\u524d\u306f\u540c\u3058\u3067\u3082\u3001\u6b20\u5931\u7bc4\u56f2\u306b\u3088\u3063\u3066\u75c7\u72b6\u306e\u51fa\u65b9\u304c\u5909\u308f\u308b\u75be\u60a3\u3067\u3059\u3002\u5178\u578b\u578b\u3068\u306e\u9055\u3044\u3092\u77e5\u3063\u3066\u304a\u304f\u3053\u3068\u306f\u3001\u904e\u5ea6\u306b\u4e0d\u5b89\u304c\u3089\u305a\u3001\u304b\u3064\u5fc5\u8981\u306a\u652f\u63f4\u3092\u898b\u9003\u3055\u306a\u3044\u305f\u3081\u306e\u52a9\u3051\u306b\u306a\u308a\u307e\u3059\u3002\u6c17\u306b\u306a\u308b\u75c7\u72b6\u3084\u691c\u67fb\u306b\u3064\u3044\u3066\u8ff7\u3063\u305f\u3068\u304d\u306f\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3092\u901a\u3058\u3066\u5c02\u9580\u5bb6\u306b\u76f8\u8ac7\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<p>NIPT\u306f\u598a\u5a20\u4e2d\u306e\u5927\u5207\u306a\u9078\u629e\u80a2\u306e\u3072\u3068\u3064\u3067\u3059\u304c\u3001\u8abf\u3079\u3089\u308c\u308b\u7bc4\u56f2\u306b\u306f\u9650\u308a\u304c\u3042\u308a\u307e\u3059\u3002<a 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