{"id":121793,"date":"2026-01-07T17:18:22","date_gmt":"2026-01-07T08:18:22","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=121793"},"modified":"2026-01-07T17:18:25","modified_gmt":"2026-01-07T08:18:25","slug":"digeorge-syndrome-type2-10p-deletion-guide","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/digeorge-syndrome-type2-10p-deletion-guide\/","title":{"rendered":"\u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa42\u578b\uff0810p\u6b20\u5931\uff09"},"content":{"rendered":"\n<p>\u304a\u5b50\u69d8\u304c\u300c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/microdeletion-syndrome\/\">\u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa4<\/a>2\u578b\uff08DiGeorge syndrome 2\uff09\u300d\u3001\u3042\u308b\u3044\u306f\u300c10\u756a\u67d3\u8272\u4f53\u77ed\u8155\u6b20\u5931\uff0810p13 deletion \/ 10p14 deletion\uff09\u300d\u3068\u3044\u3046\u8a3a\u65ad\u3092\u53d7\u3051\u305f\u3068\u304d\u3001\u3054\u5bb6\u65cf\u306f\u5927\u304d\u306a\u6df7\u4e71\u3068\u4e0d\u5b89\u3092\u611f\u3058\u3089\u308c\u305f\u3053\u3068\u3067\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<p>\u300c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/microdeletion-syndrome\/\">\u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa4<\/a>\u3063\u3066\u300122\u756a\u67d3\u8272\u4f53\u306e\u75c5\u6c17\u3058\u3083\u306a\u3044\u306e\uff1f\u300d<\/p>\n\n\n\n<p>\u300c2\u578b\u3063\u3066\u3069\u3046\u3044\u3046\u3053\u3068\uff1f\u300d\u300c\u96e3\u8074\u304c\u3042\u308b\u304b\u3082\u3057\u308c\u306a\u3044\u3063\u3066\u672c\u5f53\uff1f\u300d<\/p>\n\n\n\n<p>\u30a4\u30f3\u30bf\u30fc\u30cd\u30c3\u30c8\u3067\u691c\u7d22\u3057\u3066\u3082\u3001\u51fa\u3066\u304f\u308b\u60c5\u5831\u306e\u307b\u3068\u3093\u3069\u306f\u300c22q11.2\u6b20\u5931\u75c7\u5019\u7fa4\uff08\u5f93\u6765\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/microdeletion-syndrome\/\">\u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa4<\/a>\uff09\u300d\u306b\u95a2\u3059\u308b\u3082\u306e\u3067\u3042\u308a\u3001\u3053\u306e\u300c10\u756a\u67d3\u8272\u4f53\u300d\u306b\u8d77\u56e0\u3059\u308b\u30bf\u30a4\u30d7\u306b\u3064\u3044\u3066\u306e\u8a73\u3057\u3044\u65e5\u672c\u8a9e\u60c5\u5831\u306f\u975e\u5e38\u306b\u5c11\u306a\u3044\u306e\u304c\u73fe\u72b6\u3067\u3059\u3002<\/p>\n\n\n\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_82_2 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">\u76ee\u6b21<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/digeorge-syndrome-type2-10p-deletion-guide\/#%E6%9F%93%E8%89%B2%E4%BD%93%E3%81%AE%E3%80%8C%E4%BD%8F%E6%89%80%E3%80%8D%E3%82%92%E8%AA%AD%E3%81%BF%E8%A7%A3%E3%81%8F\" >\u67d3\u8272\u4f53\u306e\u300c\u4f4f\u6240\u300d\u3092\u8aad\u307f\u89e3\u304f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/digeorge-syndrome-type2-10p-deletion-guide\/#%E3%80%8C%E8%A8%AD%E8%A8%88%E5%9B%B3%E3%80%8D%E3%81%AE%E3%83%9A%E3%83%BC%E3%82%B8%E3%81%8C%E6%8A%9C%E3%81%91%E3%81%A6%E3%81%84%E3%82%8B%E7%8A%B6%E6%85%8B\" >\u300c\u8a2d\u8a08\u56f3\u300d\u306e\u30da\u30fc\u30b8\u304c\u629c\u3051\u3066\u3044\u308b\u72b6\u614b<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/digeorge-syndrome-type2-10p-deletion-guide\/#%E4%B8%BB%E3%81%AA%E7%97%87%E7%8A%B6\" >\u4e3b\u306a\u75c7\u72b6<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/digeorge-syndrome-type2-10p-deletion-guide\/#1_22q112%E6%AC%A0%E5%A4%B1%EF%BC%881%E5%9E%8B%EF%BC%89%E3%81%A8%E5%85%B1%E9%80%9A%E3%81%99%E3%82%8B%E7%97%87%E7%8A%B6\" >1. 22q11.2\u6b20\u5931\uff081\u578b\uff09\u3068\u5171\u901a\u3059\u308b\u75c7\u72b6<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/digeorge-syndrome-type2-10p-deletion-guide\/#2_%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%A42%E5%9E%8B%E3%81%AB%E7%89%B9%E6%9C%89%E3%83%BB%E5%A4%9A%E3%81%84%E7%97%87%E7%8A%B6\" >2. \u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa42\u578b\u306b\u7279\u6709\u30fb\u591a\u3044\u75c7\u72b6<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/digeorge-syndrome-type2-10p-deletion-guide\/#3_%E7%99%BA%E9%81%94%E3%81%A8%E7%89%B9%E5%BE%B4%E7%9A%84%E3%81%AA%E3%81%8A%E9%A1%94%E7%AB%8B%E3%81%A1\" >3. \u767a\u9054\u3068\u7279\u5fb4\u7684\u306a\u304a\u9854\u7acb\u3061<\/a><\/li><\/ul><\/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\/digeorge-syndrome-type2-10p-deletion-guide\/#%E5%8E%9F%E5%9B%A0%EF%BC%9A%E3%81%AA%E3%81%9C%E8%B5%B7%E3%81%8D%E3%81%9F%E3%81%AE%E3%81%8B\" >\u539f\u56e0\uff1a\u306a\u305c\u8d77\u304d\u305f\u306e\u304b<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/digeorge-syndrome-type2-10p-deletion-guide\/#1_%E7%AA%81%E7%84%B6%E5%A4%89%E7%95%B0%EF%BC%88de_novo%E5%A4%89%E7%95%B0%EF%BC%89\" >1. \u7a81\u7136\u5909\u7570\uff08de novo\u5909\u7570\uff09<\/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\/digeorge-syndrome-type2-10p-deletion-guide\/#2_%E9%87%8D%E8%A6%81%E9%81%BA%E4%BC%9D%E5%AD%90%EF%BC%9AGATA3%EF%BC%88%E3%82%AC%E3%82%BF%E3%83%BB%E3%82%B9%E3%83%AA%E3%83%BC%EF%BC%89\" >2. \u91cd\u8981\u907a\u4f1d\u5b50\uff1aGATA3\uff08\u30ac\u30bf\u30fb\u30b9\u30ea\u30fc\uff09<\/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\/digeorge-syndrome-type2-10p-deletion-guide\/#3_%E8%A6%AA%E3%81%AE%E6%9F%93%E8%89%B2%E4%BD%93%E8%BB%A2%E5%BA%A7%EF%BC%88%E3%81%BE%E3%82%8C%E3%81%AA%E3%82%B1%E3%83%BC%E3%82%B9%EF%BC%89\" >3. \u89aa\u306e\u67d3\u8272\u4f53\u8ee2\u5ea7\uff08\u307e\u308c\u306a\u30b1\u30fc\u30b9\uff09<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-13\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/digeorge-syndrome-type2-10p-deletion-guide\/#%E8%A8%BA%E6%96%AD%E3%81%A8%E6%A4%9C%E6%9F%BB\" >\u8a3a\u65ad\u3068\u691c\u67fb<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/digeorge-syndrome-type2-10p-deletion-guide\/#1_%E3%83%9E%E3%82%A4%E3%82%AF%E3%83%AD%E3%82%A2%E3%83%AC%E3%82%A4%E6%9F%93%E8%89%B2%E4%BD%93%E6%A4%9C%E6%9F%BB_CMA\" >1. \u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb (CMA)<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-15\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/digeorge-syndrome-type2-10p-deletion-guide\/#2_%E8%81%B4%E8%A6%9A%E6%A4%9C%E6%9F%BB%EF%BC%88ABR%E3%81%AA%E3%81%A9%EF%BC%89\" >2. \u8074\u899a\u691c\u67fb\uff08ABR\u306a\u3069\uff09<\/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\/digeorge-syndrome-type2-10p-deletion-guide\/#3_%E7%94%BB%E5%83%8F%E6%A4%9C%E6%9F%BB\" >3. \u753b\u50cf\u691c\u67fb<\/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\/digeorge-syndrome-type2-10p-deletion-guide\/#4_%E8%A1%80%E6%B6%B2%E6%A4%9C%E6%9F%BB\" >4. \u8840\u6db2\u691c\u67fb<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-18\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/digeorge-syndrome-type2-10p-deletion-guide\/#%E6%B2%BB%E7%99%82%E3%81%A8%E7%AE%A1%E7%90%86%EF%BC%9A%E3%81%93%E3%82%8C%E3%81%8B%E3%82%89%E3%81%AE%E3%83%AD%E3%83%BC%E3%83%89%E3%83%9E%E3%83%83%E3%83%97\" >\u6cbb\u7642\u3068\u7ba1\u7406\uff1a\u3053\u308c\u304b\u3089\u306e\u30ed\u30fc\u30c9\u30de\u30c3\u30d7<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-19\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/digeorge-syndrome-type2-10p-deletion-guide\/#1_%E5%BF%83%E7%96%BE%E6%82%A3%E3%81%AE%E6%B2%BB%E7%99%82\" >1. \u5fc3\u75be\u60a3\u306e\u6cbb\u7642<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-20\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/digeorge-syndrome-type2-10p-deletion-guide\/#2_%E3%82%AB%E3%83%AB%E3%82%B7%E3%82%A6%E3%83%A0%E3%81%A8%E5%85%8D%E7%96%AB%E3%81%AE%E7%AE%A1%E7%90%86\" >2. \u30ab\u30eb\u30b7\u30a6\u30e0\u3068\u514d\u75ab\u306e\u7ba1\u7406<\/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\/digeorge-syndrome-type2-10p-deletion-guide\/#3_%E8%81%B4%E8%A6%9A%E3%83%BB%E8%85%8E%E8%87%93%E3%81%AE%E3%82%B1%E3%82%A2%EF%BC%88DGS2%E7%89%B9%E6%9C%89%EF%BC%89\" >3. \u8074\u899a\u30fb\u814e\u81d3\u306e\u30b1\u30a2\uff08DGS2\u7279\u6709\uff09<\/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\/digeorge-syndrome-type2-10p-deletion-guide\/#4_%E6%97%A9%E6%9C%9F%E7%99%82%E8%82%B2%EF%BC%88%E3%83%8F%E3%83%93%E3%83%AA%E3%83%86%E3%83%BC%E3%82%B7%E3%83%A7%E3%83%B3%EF%BC%89\" >4. \u65e9\u671f\u7642\u80b2\uff08\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\uff09<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-23\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/digeorge-syndrome-type2-10p-deletion-guide\/#%E6%97%A5%E3%80%85%E3%81%AE%E7%94%9F%E6%B4%BB%E3%81%A7%E3%81%AE%E5%B7%A5%E5%A4%AB\" >\u65e5\u3005\u306e\u751f\u6d3b\u3067\u306e\u5de5\u592b<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-24\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/digeorge-syndrome-type2-10p-deletion-guide\/#%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-25\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/digeorge-syndrome-type2-10p-deletion-guide\/#%E3%81%BE%E3%81%A8%E3%82%81\" >\u307e\u3068\u3081<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-26\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/digeorge-syndrome-type2-10p-deletion-guide\/#%E5%AE%B6%E6%97%8F%E3%81%B8%E3%81%AE%E3%83%A1%E3%83%83%E3%82%BB%E3%83%BC%E3%82%B8\" >\u5bb6\u65cf\u3078\u306e\u30e1\u30c3\u30bb\u30fc\u30b8<\/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><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/microdeletion-syndrome\/\">\u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa4<\/a>2\u578b\uff08DGS2\uff09\u306f\u3001\u30d2\u30c8\u306e\u7d30\u80de\u306b\u3042\u308b46\u672c\u306e\u67d3\u8272\u4f53\u306e\u3046\u3061\u3001\u300c10\u756a\u67d3\u8272\u4f53\u300d\u306e\u4e00\u90e8\u304c\u5931\u308f\u308c\u3066\u3044\u308b\uff08\u6b20\u5931\u3057\u3066\u3044\u308b\uff09\u3053\u3068\u306b\u3088\u3063\u3066\u8d77\u3053\u308b\u751f\u307e\u308c\u3064\u304d\u306e\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%AA%E3%81%9C%E3%80%8C%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%E3%80%8D%E3%81%A8%E5%91%BC%E3%81%B0%E3%82%8C%E3%82%8B%E3%81%AE%E3%81%8B%EF%BC%9F\"><\/span><strong>\u306a\u305c\u300c\u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa4\u300d\u3068\u547c\u3070\u308c\u308b\u306e\u304b\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3082\u3068\u3082\u3068\u300c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/microdeletion-syndrome\/\">\u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa4<\/a>\u300d\u3068\u306f\u3001\u4ee5\u4e0b\u306e3\u3064\u306e\u7279\u5fb4\uff08\u4e3b\u5fb4\uff09\u3092\u6301\u3064\u75c5\u6c17\u306e\u7dcf\u79f0\u3067\u3057\u305f\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li>\u5fc3\u81d3\u306e\u5947\u5f62\uff08\u5186\u9310\u52d5\u8108\u5e79\u7570\u5e38\uff09<\/li>\n\n\n\n<li>\u80f8\u817a\u306e\u4f4e\u5f62\u6210\uff08\u514d\u75ab\u529b\u306e\u4f4e\u4e0b\uff09<\/li>\n\n\n\n<li>\u526f\u7532\u72b6\u817a\u306e\u4f4e\u5f62\u6210\uff08\u4f4e\u30ab\u30eb\u30b7\u30a6\u30e0\u8840\u75c7\uff09<\/li>\n<\/ol>\n\n\n\n<p>\u7814\u7a76\u304c\u9032\u3080\u306b\u3064\u308c\u3001\u3053\u306e\u75c7\u72b6\u3092\u6301\u3064\u4eba\u306e90%\u4ee5\u4e0a\u306f\u300c22\u756a\u67d3\u8272\u4f53\uff0822q11.2\uff09\u300d\u306e\u6b20\u5931\u304c\u539f\u56e0\u3067\u3042\u308b\u3053\u3068\u304c\u5206\u304b\u308a\u307e\u3057\u305f\uff08\u3053\u308c\u3092\u73fe\u5728\u306f22q11.2\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u547c\u3073\u307e\u3059\uff09\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u6b8b\u308a\u306e\u6570%\u306e\u4eba\u305f\u3061\u306f22\u756a\u67d3\u8272\u4f53\u306f\u6b63\u5e38\u3067\u3001\u4ee3\u308f\u308a\u306b\u300c10\u756a\u67d3\u8272\u4f53\uff0810p13-p14\uff09\u300d\u306b\u6b20\u5931\u304c\u3042\u308b\u3053\u3068\u304c\u5206\u304b\u308a\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<p>\u75c7\u72b6\u304c\u975e\u5e38\u306b\u4f3c\u3066\u3044\u308b\u305f\u3081\u3001\u3053\u308c\u3092\u533a\u5225\u3057\u3066\u300c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/microdeletion-syndrome\/\">\u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa4<\/a>2\u578b\u300d\u3068\u547c\u3093\u3067\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%9F%93%E8%89%B2%E4%BD%93%E3%81%AE%E3%80%8C%E4%BD%8F%E6%89%80%E3%80%8D%E3%82%92%E8%AA%AD%E3%81%BF%E8%A7%A3%E3%81%8F\"><\/span><strong>\u67d3\u8272\u4f53\u306e\u300c\u4f4f\u6240\u300d\u3092\u8aad\u307f\u89e3\u304f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Chromosome 10\uff0810\u756a\u67d3\u8272\u4f53\uff09:<\/strong> \u30d2\u30c8\u306e23\u5bfe\u306e\u67d3\u8272\u4f53\u306e\u3046\u3061\u300110\u756a\u76ee\u306e\u67d3\u8272\u4f53\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>p\uff08\u77ed\u8155\uff09:<\/strong> \u67d3\u8272\u4f53\u306b\u306f\u304f\u3073\u308c\u304c\u3042\u308a\u3001\u77ed\u3044\u65b9\u3092\u300c\u77ed\u8155\uff08p\uff09\u300d\u3001\u9577\u3044\u65b9\u3092\u300c\u9577\u8155\uff08q\uff09\u300d\u3068\u547c\u3073\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>13-14\uff08\u9818\u57df\uff09:<\/strong> \u77ed\u8155\u306e\u300c13\u756a\u300d\u304b\u3089\u300c14\u756a\u300d\u306b\u304b\u3051\u3066\u306e\u9818\u57df\u304c\u6b20\u3051\u3066\u3044\u308b\u3053\u3068\u3092\u610f\u5473\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>Deletion\uff08\u6b20\u5931\uff09:<\/strong> \u305d\u306e\u90e8\u5206\u306e\u907a\u4f1d\u60c5\u5831\u304c\u629c\u3051\u843d\u3061\u3066\u3044\u308b\u72b6\u614b\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%80%8C%E8%A8%AD%E8%A8%88%E5%9B%B3%E3%80%8D%E3%81%AE%E3%83%9A%E3%83%BC%E3%82%B8%E3%81%8C%E6%8A%9C%E3%81%91%E3%81%A6%E3%81%84%E3%82%8B%E7%8A%B6%E6%85%8B\"><\/span><strong>\u300c\u8a2d\u8a08\u56f3\u300d\u306e\u30da\u30fc\u30b8\u304c\u629c\u3051\u3066\u3044\u308b\u72b6\u614b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u67d3\u8272\u4f53\u3092\u300c\u516846\u5dfb\u306e\u767e\u79d1\u4e8b\u5178\uff08\u4f53\u306e\u8a2d\u8a08\u56f3\uff09\u300d\u306b\u4f8b\u3048\u308b\u306a\u3089\u3001\u3053\u306e\u75c7\u5019\u7fa4\u306f\u3001\u300c\u7b2c10\u5dfb\u306ep13-p14\u3068\u3044\u3046\u7ae0\u306e\u30da\u30fc\u30b8\u304c\u629c\u3051\u843d\u3061\u3066\u3057\u307e\u3063\u3066\u3044\u308b\u300d\u72b6\u614b\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u30da\u30fc\u30b8\u306b\u306f\u3001\u5fc3\u81d3\u3084\u514d\u75ab\u7cfb\u3060\u3051\u3067\u306a\u304f\u3001\u8033\uff08\u8074\u899a\uff09\u3084\u814e\u81d3\u306e\u5f62\u6210\u306b\u95a2\u308f\u308b\u91cd\u8981\u306a\u907a\u4f1d\u5b50\uff08\u7279\u306bGATA3\u907a\u4f1d\u5b50\uff09\u304c\u542b\u307e\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u305d\u306e\u305f\u3081\u3001\u4e00\u822c\u7684\u306a<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/microdeletion-syndrome\/\">\u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa4<\/a>\u306e\u75c7\u72b6\u306b\u52a0\u3048\u3066\u3001\u300c\u96e3\u8074\u300d\u3084\u300c\u814e\u81d3\u306e\u75c5\u6c17\u300d\u3092\u5408\u4f75\u3057\u3084\u3059\u3044\u306e\u304c\u3001\u3053\u306e2\u578b\u306e\u5927\u304d\u306a\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%B8%BB%E3%81%AA%E7%97%87%E7%8A%B6\"><\/span><strong>\u4e3b\u306a\u75c7\u72b6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/microdeletion-syndrome\/\">\u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa4<\/a>2\u578b\u306e\u75c7\u72b6\u306f\u3001\u6b20\u5931\u3057\u3066\u3044\u308b\u7bc4\u56f2\u306e\u5927\u304d\u3055\u3084\u3001\u542b\u307e\u308c\u308b\u907a\u4f1d\u5b50\u306b\u3088\u3063\u3066\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u3053\u3067\u306f\u4ee3\u8868\u7684\u306a\u75c7\u72b6\u3092\u89e3\u8aac\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_22q112%E6%AC%A0%E5%A4%B1%EF%BC%881%E5%9E%8B%EF%BC%89%E3%81%A8%E5%85%B1%E9%80%9A%E3%81%99%E3%82%8B%E7%97%87%E7%8A%B6\"><\/span><strong>1. 22q11.2\u6b20\u5931\uff081\u578b\uff09\u3068\u5171\u901a\u3059\u308b\u75c7\u72b6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u300c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/microdeletion-syndrome\/\">\u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa4<\/a>\u300d\u3068\u3057\u3066\u5171\u901a\u3059\u308b\u75c7\u72b6\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5148\u5929\u6027\u5fc3\u75be\u60a3:<br>\u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d\u75c7\uff08VSD\uff09\u3001\u30d5\u30a1\u30ed\u30fc\u56db\u5fb4\u75c7\u3001\u5927\u52d5\u8108\u5f13\u96e2\u65ad\u306a\u3069\u3001\u5fc3\u81d3\u306e\u8840\u7ba1\u3084\u58c1\u306e\u5f62\u6210\u7570\u5e38\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002\u624b\u8853\u304c\u5fc5\u8981\u306b\u306a\u308b\u30b1\u30fc\u30b9\u304c\u4e00\u822c\u7684\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u514d\u75ab\u6a5f\u80fd\u306e\u4f4e\u4e0b\uff08\u80f8\u817a\u4f4e\u5f62\u6210\uff09:<br>\u514d\u75ab\u7d30\u80de\uff08T\u7d30\u80de\uff09\u3092\u80b2\u3066\u308b\u5b66\u6821\u3067\u3042\u308b\u300c\u80f8\u817a\u300d\u304c\u5c0f\u3055\u304b\u3063\u305f\u308a\u3001\u306a\u304b\u3063\u305f\u308a\u3059\u308b\u305f\u3081\u3001\u611f\u67d3\u75c7\u306b\u304b\u304b\u308a\u3084\u3059\u304f\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u4f4e\u30ab\u30eb\u30b7\u30a6\u30e0\u8840\u75c7\uff08\u526f\u7532\u72b6\u817a\u6a5f\u80fd\u4f4e\u4e0b\u75c7\uff09:<br>\u8840\u6db2\u4e2d\u306e\u30ab\u30eb\u30b7\u30a6\u30e0\u6fc3\u5ea6\u3092\u8abf\u7bc0\u3059\u308b\u300c\u526f\u7532\u72b6\u817a\u300d\u306e\u50cd\u304d\u304c\u5f31\u304f\u3001\u30ab\u30eb\u30b7\u30a6\u30e0\u5024\u304c\u4e0b\u304c\u3063\u3066\u3051\u3044\u308c\u3093\uff08\u30c6\u30bf\u30cb\u30fc\uff09\u3092\u8d77\u3053\u3059\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%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%A42%E5%9E%8B%E3%81%AB%E7%89%B9%E6%9C%89%E3%83%BB%E5%A4%9A%E3%81%84%E7%97%87%E7%8A%B6\"><\/span><strong>2. \u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa42\u578b\u306b\u7279\u6709\u30fb\u591a\u3044\u75c7\u72b6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3053\u3053\u304c\u8a3a\u65ad\u3084\u7ba1\u7406\u306b\u304a\u3044\u3066\u975e\u5e38\u306b\u91cd\u8981\u306a\u30dd\u30a4\u30f3\u30c8\u3067\u3059\u3002<strong>10p\u6b20\u5931\u7279\u6709\u306e\u75c7\u72b6<\/strong>\u306b\u306f\u4ee5\u4e0b\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u611f\u97f3\u6027\u96e3\u8074:<br>\u5185\u8033\uff08\u97f3\u3092\u611f\u3058\u308b\u795e\u7d4c\u306e\u90e8\u5206\uff09\u306e\u767a\u9054\u4e0d\u5168\u306b\u3088\u308a\u3001\u96e3\u8074\u306b\u306a\u308b\u30ea\u30b9\u30af\u304c\u9ad8\u3044\u3067\u3059\u3002\u3053\u308c\u306f22q\u6b20\u5931\uff081\u578b\uff09\u3067\u306f\u3042\u307e\u308a\u898b\u3089\u308c\u306a\u3044\u7279\u5fb4\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u814e\u81d3\u30fb\u5c3f\u8def\u306e\u7570\u5e38:<br>\u814e\u81d3\u304c\u7247\u65b9\u3057\u304b\u306a\u3044\uff08\u814e\u6b20\u640d\uff09\u3001\u814e\u81d3\u306e\u5f62\u304c\u60aa\u3044\uff08\u7570\u5f62\u6210\uff09\u3001\u5c3f\u306e\u901a\u308a\u9053\u304c\u9006\u6d41\u3059\u308b\u306a\u3069\u3001\u6ccc\u5c3f\u5668\u7cfb\u306e\u30c8\u30e9\u30d6\u30eb\u3092\u5408\u4f75\u3059\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li>HDR\u75c7\u5019\u7fa4\u3068\u306e\u95a2\u9023:<br>\u5b9f\u306f\u3001\u3053\u306e10p\u6b20\u5931\u306b\u3088\u3063\u3066\u8d77\u304d\u308b\u300c\u526f\u7532\u72b6\u817a\u6a5f\u80fd\u4f4e\u4e0b(H)\u300d\u300c\u96e3\u8074(D)\u300d\u300c\u814e\u5f62\u6210\u7570\u5e38(R)\u300d\u306e3\u3064\u304c\u63c3\u3063\u305f\u72b6\u614b\u3092\u3001\u533b\u5b66\u7684\u306b\u306f\u300cHDR\u75c7\u5019\u7fa4\uff08\u5225\u540d\uff1a\u30d0\u30e9\u30ab\u30c3\u30c8\u75c7\u5019\u7fa4\uff09\u300d\u3068\u547c\u3073\u307e\u3059\u3002<br><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/microdeletion-syndrome\/\">\u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa4<\/a>2\u578b\u3068\u8a3a\u65ad\u3055\u308c\u305f\u65b9\u306f\u3001\u5b9f\u8cea\u7684\u306b\u3053\u306eHDR\u75c7\u5019\u7fa4\u306e\u7279\u5fb4\u3082\u4f75\u305b\u6301\u3063\u3066\u3044\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E7%99%BA%E9%81%94%E3%81%A8%E7%89%B9%E5%BE%B4%E7%9A%84%E3%81%AA%E3%81%8A%E9%A1%94%E7%AB%8B%E3%81%A1\"><\/span><strong>3. \u767a\u9054\u3068\u7279\u5fb4\u7684\u306a\u304a\u9854\u7acb\u3061<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u7cbe\u795e\u904b\u52d5\u767a\u9054\u9045\u6ede:<br>\u9996\u306e\u3059\u308f\u308a\u3001\u304a\u5ea7\u308a\u3001\u6b69\u884c\u306a\u3069\u306e\u904b\u52d5\u767a\u9054\u304c\u3086\u3063\u304f\u308a\u3067\u3059\u3002<\/li>\n\n\n\n<li><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>:<br>\u8efd\u5ea6\u304b\u3089\u4e2d\u7b49\u5ea6\u3001\u6642\u306b\u306f\u91cd\u5ea6\u307e\u3067\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059\u3002\u8a00\u8449\u306e\u9045\u308c\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u3053\u308c\u306b\u306f\u300c\u96e3\u8074\u300d\u304c\u96a0\u308c\u3066\u3044\u3066\u805e\u3053\u3048\u3066\u3044\u306a\u3044\u3053\u3068\u304c\u539f\u56e0\u306e\u5834\u5408\u3082\u3042\u308b\u305f\u3081\u3001\u6ce8\u610f\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u304a\u9854\u306e\u7279\u5fb4:<br>\u76ee\u304c\u96e2\u308c\u3066\u3044\u308b\uff08\u773c\u9593\u958b\u96e2\uff09\u3001\u8033\u306e\u4f4d\u7f6e\u304c\u4f4e\u3044\u3001\u3042\u3054\u304c\u5c0f\u3055\u3044\u3001\u9f3b\u304c\u4e0a\u5411\u304d\u3067\u3042\u308b\u306a\u3069\u306e\u7279\u5fb4\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u6210\u9577\u3068\u3068\u3082\u306b\u305d\u306e\u5b50\u3089\u3057\u3044\u500b\u6027\u306b\u99b4\u67d3\u3093\u3067\u3044\u304d\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%8E%9F%E5%9B%A0%EF%BC%9A%E3%81%AA%E3%81%9C%E8%B5%B7%E3%81%8D%E3%81%9F%E3%81%AE%E3%81%8B\"><\/span><strong>\u539f\u56e0\uff1a\u306a\u305c\u8d77\u304d\u305f\u306e\u304b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u3054\u5bb6\u65cf\u304c\u300c\u306a\u305c\uff1f\u300d\u3068\u60a9\u307f\u3001\u6642\u306b\u3054\u81ea\u8eab\u3092\u8cac\u3081\u3066\u3057\u307e\u3046\u306e\u304c\u300c\u539f\u56e0\u300d\u306b\u3064\u3044\u3066\u3067\u3059\u3002\u3057\u304b\u3057\u3001\u58f0\u3092\u5927\u306b\u3057\u3066\u304a\u4f1d\u3048\u3057\u305f\u3044\u306e\u306f\u3001\u300c\u3054\u4e21\u89aa\u306e\u80b2\u3066\u65b9\u3084\u598a\u5a20\u4e2d\u306e\u904e\u3054\u3057\u65b9\u304c\u539f\u56e0\u3067\u306f\u306a\u3044\u300d\u3068\u3044\u3046\u3053\u3068\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E7%AA%81%E7%84%B6%E5%A4%89%E7%95%B0%EF%BC%88de_novo%E5%A4%89%E7%95%B0%EF%BC%89\"><\/span><strong>1. \u7a81\u7136\u5909\u7570\uff08de novo\u5909\u7570\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/microdeletion-syndrome\/\">\u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa4<\/a>2\u578b\u306e\u591a\u304f\u306f\u3001\u300cde novo\uff08\u30c7\u30fb\u30ce\u30dc\uff09\u300d\u3068\u547c\u3070\u308c\u308b\u7a81\u7136\u5909\u7570\u3067\u8d77\u3053\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7cbe\u5b50\u3084\u5375\u5b50\u304c\u4f5c\u3089\u308c\u308b\u904e\u7a0b\u3001\u3042\u308b\u3044\u306f\u53d7\u7cbe\u5f8c\u306e\u7d30\u80de\u5206\u88c2\u306e\u975e\u5e38\u306b\u65e9\u3044\u6bb5\u968e\u3067\u3001\u5076\u7136\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u6b20\u843d\u3057\u3066\u3057\u307e\u3063\u305f\u3082\u306e\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u8ab0\u306b\u3067\u3082\u8d77\u3053\u308a\u3046\u308b\u3001\u81ea\u7136\u306e\u78ba\u7387\u7684\u306a\u73fe\u8c61\u3067\u3042\u308a\u3001\u9632\u3050\u3053\u3068\u306f\u73fe\u4ee3\u306e\u533b\u5b66\u3067\u306f\u4e0d\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E9%87%8D%E8%A6%81%E9%81%BA%E4%BC%9D%E5%AD%90%EF%BC%9AGATA3%EF%BC%88%E3%82%AC%E3%82%BF%E3%83%BB%E3%82%B9%E3%83%AA%E3%83%BC%EF%BC%89\"><\/span><strong>2. \u91cd\u8981\u907a\u4f1d\u5b50\uff1aGATA3\uff08\u30ac\u30bf\u30fb\u30b9\u30ea\u30fc\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>10p14\u9818\u57df\u306b\u306f\u3001GATA3\u3068\u3044\u3046\u975e\u5e38\u306b\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u907a\u4f1d\u5b50\u306f\u3001\u4f53\u306e\u69d8\u3005\u306a\u5834\u6240\uff08\u526f\u7532\u72b6\u817a\u3001\u5185\u8033\u3001\u814e\u81d3\u3001\u80f8\u817a\u306a\u3069\uff09\u3092\u4f5c\u308b\u305f\u3081\u306e\u300c\u6307\u63ee\u8005\u300d\u306e\u3088\u3046\u306a\u5f79\u5272\u3092\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>GATA3\u304c\u8db3\u308a\u306a\u3044\uff08\u30cf\u30d7\u30ed\u4e0d\u5168\uff09 \u2192 \u6307\u63ee\u8005\u304c\u3044\u306a\u3044\u305f\u3081\u3001\u8033\u3084\u814e\u81d3\u3001\u526f\u7532\u72b6\u817a\u304c\u3046\u307e\u304f\u4f5c\u3089\u308c\u306a\u3044\u3002<br>\u3053\u308c\u304c\u3001\u96e3\u8074\u3084\u814e\u75be\u60a3\u3001\u4f4e\u30ab\u30eb\u30b7\u30a6\u30e0\u8840\u75c7\u306e\u539f\u56e0\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E8%A6%AA%E3%81%AE%E6%9F%93%E8%89%B2%E4%BD%93%E8%BB%A2%E5%BA%A7%EF%BC%88%E3%81%BE%E3%82%8C%E3%81%AA%E3%82%B1%E3%83%BC%E3%82%B9%EF%BC%89\"><\/span><strong>3. \u89aa\u306e\u67d3\u8272\u4f53\u8ee2\u5ea7\uff08\u307e\u308c\u306a\u30b1\u30fc\u30b9\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u4e00\u90e8\u306e\u30b1\u30fc\u30b9\u3067\u306f\u3001\u3054\u4e21\u89aa\u306e\u3069\u3061\u3089\u304b\u304c\u300c\u5747\u8861\u578b\u8ee2\u5ea7\u300d\u3068\u3044\u3046\u67d3\u8272\u4f53\u306e\u30bf\u30a4\u30d7\u3092\u6301\u3063\u3066\u3044\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5747\u8861\u578b\u8ee2\u5ea7:<\/strong> \u67d3\u8272\u4f53\u306e\u5834\u6240\u304c\u5165\u308c\u66ff\u308f\u3063\u3066\u3044\u308b\u3060\u3051\u3067\u3001\u907a\u4f1d\u60c5\u5831\u306e\u91cf\u306f\u5909\u308f\u3089\u306a\u3044\u305f\u3081\u3001\u89aa\u5fa1\u3055\u3093\u81ea\u8eab\u306f\u5065\u5eb7\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u3057\u304b\u3057\u3001\u304a\u5b50\u69d8\u306b\u67d3\u8272\u4f53\u3092\u53d7\u3051\u6e21\u3059\u969b\u306b\u3001\u30d0\u30e9\u30f3\u30b9\u304c\u5d29\u308c\u3066\u300c\u4e0d\u5747\u8861\uff08\u6b20\u5931\uff09\u300d\u304c\u751f\u3058\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<br>\u203b\u6b21\u306e\u304a\u5b50\u69d8\u3092\u8003\u3048\u3066\u3044\u308b\u5834\u5408\u306a\u3069\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u78ba\u8a8d\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<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>\u901a\u5e38\u3001\u751f\u307e\u308c\u305f\u6642\u306e\u5fc3\u75be\u60a3\u3084\u4f4e\u30ab\u30eb\u30b7\u30a6\u30e0\u8840\u75c7\u306b\u3088\u308b\u3051\u3044\u308c\u3093\u3001\u3042\u308b\u3044\u306f\u96e3\u8074\u306e\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u306a\u3069\u3067\u533b\u5e2b\u304c\u7591\u3044\u3092\u6301\u3061\u3001\u691c\u67fb\u3092\u884c\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E3%83%9E%E3%82%A4%E3%82%AF%E3%83%AD%E3%82%A2%E3%83%AC%E3%82%A4%E6%9F%93%E8%89%B2%E4%BD%93%E6%A4%9C%E6%9F%BB_CMA\"><\/span><strong>1. \u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb (CMA)<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u73fe\u5728\u3001\u3053\u306e\u75c7\u5019\u7fa4\u306e\u78ba\u5b9a\u8a3a\u65ad\u306b\u6700\u3082\u63a8\u5968\u3055\u308c\u308b\u691c\u67fb\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u5f93\u6765\u306e\u300cFISH\u6cd5\uff0822q\u7528\uff09\u300d\u3067\u306f\u300122\u756a\u67d3\u8272\u4f53\u3057\u304b\u8abf\u3079\u306a\u3044\u305f\u3081\u300110\u756a\u67d3\u8272\u4f53\u306e\u6b20\u5931\u306f\u898b\u9003\u3055\u308c\u3066\u3057\u307e\u3044\u307e\u3059\uff08\u9670\u6027\u3068\u51fa\u3066\u3057\u307e\u3044\u307e\u3059\uff09\u3002<\/p>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u691c\u67fb\u306f\u3001\u5168\u67d3\u8272\u4f53\u306eDNA\u91cf\u3092\u8abf\u3079\u308b\u305f\u3081\u3001\u300c10p13-p14\u306e\u7bc4\u56f2\u304c\u6b20\u3051\u3066\u3044\u308b\u300d\u3068\u3044\u3063\u305f\u6b63\u78ba\u306a\u8a3a\u65ad\u304c\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E8%81%B4%E8%A6%9A%E6%A4%9C%E6%9F%BB%EF%BC%88ABR%E3%81%AA%E3%81%A9%EF%BC%89\"><\/span><strong>2. \u8074\u899a\u691c\u67fb\uff08ABR\u306a\u3069\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6700\u91cd\u8981\u691c\u67fb\u306e\u4e00\u3064\u3067\u3059\u3002<\/p>\n\n\n\n<p>DGS2\u3067\u306f\u96e3\u8074\u306e\u30ea\u30b9\u30af\u304c\u9ad8\u3044\u305f\u3081\u3001\u65b0\u751f\u5150\u8074\u899a\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3092\u30d1\u30b9\u3057\u3066\u3044\u305f\u3068\u3057\u3066\u3082\u3001\u3088\u308a\u8a73\u3057\u3044\u691c\u67fb\uff08\u8074\u6027\u8133\u5e79\u53cd\u5fdc\uff1aABR\u306a\u3069\uff09\u3092\u884c\u3046\u3053\u3068\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002\u8a00\u8449\u306e\u9045\u308c\u306e\u539f\u56e0\u304c\u300c\u805e\u3053\u3048\u300d\u306b\u3042\u308b\u5834\u5408\u3001\u65e9\u671f\u767a\u898b\u304c\u767a\u9054\u306e\u30ab\u30ae\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E7%94%BB%E5%83%8F%E6%A4%9C%E6%9F%BB\"><\/span><strong>3. \u753b\u50cf\u691c\u67fb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5408\u4f75\u75c7\u3092\u78ba\u8a8d\u3059\u308b\u305f\u3081\u306b\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5fc3\u81d3\u8d85\u97f3\u6ce2\uff08\u30a8\u30b3\u30fc\uff09\u691c\u67fb:<\/strong> \u5fc3\u75be\u60a3\u306e\u6709\u7121\u3092\u8abf\u3079\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8179\u90e8\u30a8\u30b3\u30fc:<\/strong> \u814e\u81d3\u306e\u5f62\u3084\u6570\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E8%A1%80%E6%B6%B2%E6%A4%9C%E6%9F%BB\"><\/span><strong>4. \u8840\u6db2\u691c\u67fb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30ab\u30eb\u30b7\u30a6\u30e0\u5024:<\/strong> \u4f4e\u30ab\u30eb\u30b7\u30a6\u30e0\u8840\u75c7\u304c\u306a\u3044\u304b\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u514d\u75ab\u6a5f\u80fd:<\/strong> T\u7d30\u80de\u306e\u6570\u306a\u3069\u3092\u8abf\u3079\u3001\u514d\u75ab\u4e0d\u5168\u306e\u7a0b\u5ea6\u3092\u8a55\u4fa1\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\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%EF%BC%9A%E3%81%93%E3%82%8C%E3%81%8B%E3%82%89%E3%81%AE%E3%83%AD%E3%83%BC%E3%83%89%E3%83%9E%E3%83%83%E3%83%97\"><\/span><strong>\u6cbb\u7642\u3068\u7ba1\u7406\uff1a\u3053\u308c\u304b\u3089\u306e\u30ed\u30fc\u30c9\u30de\u30c3\u30d7<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u5931\u308f\u308c\u305f\u67d3\u8272\u4f53\u3092\u5143\u306b\u623b\u3059\u6cbb\u7642\u6cd5\uff08\u6839\u672c\u6cbb\u7642\uff09\u306f\u3001\u73fe\u4ee3\u306e\u533b\u7642\u3067\u306f\u307e\u3060\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u305d\u308c\u305e\u308c\u306e\u75c7\u72b6\u306b\u5bfe\u3059\u308b\u9069\u5207\u306a\u533b\u7642\u7684\u4ecb\u5165\uff08\u5bfe\u75c7\u7642\u6cd5\uff09\u3068\u7642\u80b2\u3092\u884c\u3046\u3053\u3068\u3067\u3001\u304a\u5b50\u69d8\u306e\u751f\u6d3b\u306e\u8cea\uff08QOL\uff09\u3092\u5927\u304d\u304f\u9ad8\u3081\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E5%BF%83%E7%96%BE%E6%82%A3%E3%81%AE%E6%B2%BB%E7%99%82\"><\/span><strong>1. \u5fc3\u75be\u60a3\u306e\u6cbb\u7642<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5fc3\u81d3\u8840\u7ba1\u5916\u79d1\u3084\u5c0f\u5150\u5faa\u74b0\u5668\u79d1\u3067\u7ba1\u7406\u3057\u307e\u3059\u3002\u7a74\u3092\u585e\u3050\u624b\u8853\u3084\u3001\u8840\u7ba1\u3092\u3064\u306a\u3050\u624b\u8853\u306a\u3069\u3001\u5fc3\u81d3\u306e\u72b6\u614b\u306b\u5408\u308f\u305b\u305f\u6cbb\u7642\u304c\u884c\u308f\u308c\u307e\u3059\u3002\u73fe\u4ee3\u306e\u5fc3\u81d3\u624b\u8853\u306e\u6280\u8853\u306f\u975e\u5e38\u306b\u9032\u6b69\u3057\u3066\u304a\u308a\u3001\u591a\u304f\u306e\u304a\u5b50\u69d8\u304c\u624b\u8853\u3092\u4e57\u308a\u8d8a\u3048\u3066\u6210\u9577\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E3%82%AB%E3%83%AB%E3%82%B7%E3%82%A6%E3%83%A0%E3%81%A8%E5%85%8D%E7%96%AB%E3%81%AE%E7%AE%A1%E7%90%86\"><\/span><strong>2. \u30ab\u30eb\u30b7\u30a6\u30e0\u3068\u514d\u75ab\u306e\u7ba1\u7406<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u4f4e\u30ab\u30eb\u30b7\u30a6\u30e0\u8840\u75c7:<br>\u6d3b\u6027\u578b\u30d3\u30bf\u30df\u30f3D\u3084\u30ab\u30eb\u30b7\u30a6\u30e0\u5264\u3092\u5185\u670d\u3057\u3001\u8840\u6db2\u4e2d\u306e\u30ab\u30eb\u30b7\u30a6\u30e0\u6fc3\u5ea6\u3092\u6b63\u5e38\u306b\u4fdd\u3061\u307e\u3059\u3002\u3053\u308c\u306b\u3088\u308a\u3001\u3051\u3044\u308c\u3093\u3092\u9632\u304e\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u514d\u75ab\u4e0d\u5168:<br>\u7a0b\u5ea6\u306b\u3088\u308a\u307e\u3059\u304c\u3001\u751f\u30ef\u30af\u30c1\u30f3\uff08BCG\u3001MR\u3001\u6c34\u75d8\u3001\u304a\u305f\u3075\u304f\u306a\u3069\uff09\u306e\u63a5\u7a2e\u6642\u671f\u3084\u53ef\u5426\u306b\u3064\u3044\u3066\u3001\u4e3b\u6cbb\u533b\u3068\u614e\u91cd\u306b\u76f8\u8ac7\u3059\u308b\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u3002\u91cd\u5ea6\u306e\u5834\u5408\u306f\u4e88\u9632\u7684\u306a\u6297\u751f\u7269\u8cea\u306e\u5185\u670d\u3084\u3001\u7279\u5225\u306a\u7ba1\u7406\u304c\u5fc5\u8981\u3067\u3059\u304c\u3001\u591a\u304f\u306f\u6210\u9577\u3068\u3068\u3082\u306b\u6539\u5584\u50be\u5411\u3092\u793a\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E8%81%B4%E8%A6%9A%E3%83%BB%E8%85%8E%E8%87%93%E3%81%AE%E3%82%B1%E3%82%A2%EF%BC%88DGS2%E7%89%B9%E6%9C%89%EF%BC%89\"><\/span><strong>3. \u8074\u899a\u30fb\u814e\u81d3\u306e\u30b1\u30a2\uff08DGS2\u7279\u6709\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u96e3\u8074:<br>\u96e3\u8074\u304c\u3042\u308b\u3068\u5206\u304b\u3063\u305f\u5834\u5408\u306f\u3001\u65e9\u671f\u304b\u3089\u88dc\u8074\u5668\u3092\u4f7f\u7528\u3057\u3001\u97f3\u3084\u8a00\u8449\u3092\u5165\u529b\u3059\u308b\u3053\u3068\u304c\u3001\u8133\u306e\u767a\u9054\u306b\u3068\u3063\u3066\u6975\u3081\u3066\u91cd\u8981\u3067\u3059\u3002\u4eba\u5de5\u5185\u8033\u304c\u9069\u5fdc\u306b\u306a\u308b\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u814e\u81d3:<br>\u5b9a\u671f\u7684\u306a\u5c3f\u691c\u67fb\u3084\u8840\u6db2\u691c\u67fb\u3067\u814e\u6a5f\u80fd\u3092\u30c1\u30a7\u30c3\u30af\u3057\u3001\u814e\u81d3\u3092\u5b88\u308b\u751f\u6d3b\uff08\u6c34\u5206\u6442\u53d6\u3001\u5869\u5206\u5236\u9650\u306a\u3069\uff09\u3092\u5fc3\u304c\u3051\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E6%97%A9%E6%9C%9F%E7%99%82%E8%82%B2%EF%BC%88%E3%83%8F%E3%83%93%E3%83%AA%E3%83%86%E3%83%BC%E3%82%B7%E3%83%A7%E3%83%B3%EF%BC%89\"><\/span><strong>4. \u65e9\u671f\u7642\u80b2\uff08\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8133\u3084\u4f53\u306e\u767a\u9054\u3092\u4fc3\u3059\u305f\u3081\u306b\u3001\u5c02\u9580\u5bb6\u306b\u3088\u308b\u30b5\u30dd\u30fc\u30c8\u3092\u53d7\u3051\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7406\u5b66\u7642\u6cd5 (PT):<\/strong> \u4f53\u5e79\u3092\u935b\u3048\u3001\u904b\u52d5\u767a\u9054\u3092\u4fc3\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u8074\u899a\u7642\u6cd5 (ST):<\/strong> \u8a00\u8449\u306e\u9045\u308c\u306b\u5bfe\u3057\u3066\u30a2\u30d7\u30ed\u30fc\u30c1\u3057\u307e\u3059\u3002\u7279\u306b\u96e3\u8074\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u8074\u899a\u6d3b\u7528\u3084\u8996\u899a\u7684\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\uff08\u30b5\u30a4\u30f3\u306a\u3069\uff09\u306e\u6307\u5c0e\u304c\u91cd\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2026\/01\/32981426_s-10.webp\" alt=\"\u533b\u8005\" class=\"wp-image-121595\"\/><\/figure><\/div>\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%97%A5%E3%80%85%E3%81%AE%E7%94%9F%E6%B4%BB%E3%81%A7%E3%81%AE%E5%B7%A5%E5%A4%AB\"><\/span><strong>\u65e5\u3005\u306e\u751f\u6d3b\u3067\u306e\u5de5\u592b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/microdeletion-syndrome\/\">\u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa4<\/a>2\u578b\u306e\u304a\u5b50\u69d8\u3068\u306e\u751f\u6d3b\u3067\u3001\u30d2\u30f3\u30c8\u306b\u306a\u308b\u30dd\u30a4\u30f3\u30c8\u3092\u307e\u3068\u3081\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u300c\u805e\u3053\u3048\u300d\u306e\u78ba\u8a8d:<br>\u8a00\u8449\u306e\u53cd\u5fdc\u304c\u60aa\u3044\u6642\u3001\u300c\u6027\u683c\u304b\u306a\uff1f\u767a\u9054\u969c\u5bb3\u304b\u306a\uff1f\u300d\u3068\u601d\u3046\u524d\u306b\u3001\u300c\u3082\u3057\u304b\u3057\u3066\u805e\u3053\u3048\u306b\u304f\u3044\u306e\u304b\u3082\uff1f\u300d\u3068\u7591\u3063\u3066\u307f\u3066\u304f\u3060\u3055\u3044\u3002\u5f8c\u308d\u304b\u3089\u547c\u3093\u3067\u3082\u632f\u308a\u5411\u304b\u306a\u3044\u3001\u5927\u304d\u306a\u97f3\u306b\u9a5a\u304b\u306a\u3044\u306a\u3069\u306e\u30b5\u30a4\u30f3\u304c\u3042\u308c\u3070\u3001\u8033\u9f3b\u79d1\u3092\u53d7\u8a3a\u3057\u307e\u3057\u3087\u3046\u3002<\/li>\n\n\n\n<li>\u611f\u67d3\u75c7\u5bfe\u7b56:<br>\u514d\u75ab\u6a5f\u80fd\u304c\u5f31\u3044\u5834\u5408\u304c\u3042\u308b\u305f\u3081\u3001\u624b\u6d17\u3044\u30fb\u3046\u304c\u3044\u3092\u5bb6\u65cf\u5168\u54e1\u3067\u5fb9\u5e95\u3057\u307e\u3057\u3087\u3046\u3002\u98a8\u90aa\u3092\u3072\u3044\u305f\u6642\u306f\u3001\u65e9\u3081\u306b\u53d7\u8a3a\u3057\u3066\u91cd\u75c7\u5316\u3092\u9632\u304e\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u30b9\u30e2\u30fc\u30eb\u30b9\u30c6\u30c3\u30d7:<br>\u5468\u308a\u306e\u5b50\u3068\u6bd4\u3079\u305a\u3001\u300c\u534a\u5e74\u524d\u306e\u3053\u306e\u5b50\u300d\u3068\u6bd4\u3079\u3066\u304f\u3060\u3055\u3044\u3002\u767a\u9054\u306f\u3086\u3063\u304f\u308a\u3067\u3059\u304c\u3001\u78ba\u5b9f\u306b\u9032\u3093\u3067\u3044\u304d\u307e\u3059\u3002<\/li>\n<\/ul>\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><strong>\u3088\u304f\u3042\u308b\u8cea\u554f\uff08FAQ\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>Q. \u5bff\u547d\u306b\u5f71\u97ff\u306f\u3042\u308a\u307e\u3059\u304b\uff1f<\/p>\n\n\n\n<p>A. \u5fc3\u75be\u60a3\u306e\u91cd\u75c7\u5ea6\u3084\u814e\u81d3\u306e\u72b6\u614b\u306b\u3088\u308a\u307e\u3059\u304c\u3001\u9069\u5207\u306a\u624b\u8853\u3084\u7ba1\u7406\u304c\u884c\u308f\u308c\u308c\u3070\u3001\u9577\u671f\u751f\u5b58\u304c\u53ef\u80fd\u3067\u3042\u308a\u3001\u6210\u4eba\u3057\u3066\u793e\u4f1a\u751f\u6d3b\u3092\u9001\u3063\u3066\u3044\u308b\u65b9\u3082\u3044\u3089\u3063\u3057\u3083\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>Q. 22q11.2\u6b20\u5931\uff081\u578b\uff09\u306e\u60a3\u8005\u4f1a\u306b\u5165\u3063\u3066\u3082\u3044\u3044\u3067\u3059\u304b\uff1f<\/p>\n\n\n\n<p>A. \u306f\u3044\u3001\u304a\u52e7\u3081\u3057\u307e\u3059\u3002\u539f\u56e0\u3068\u306a\u308b\u67d3\u8272\u4f53\u306f\u9055\u3044\u307e\u3059\u304c\u3001\u300c\u5fc3\u75be\u60a3\u300d\u300c\u514d\u75ab\u300d\u300c\u30ab\u30eb\u30b7\u30a6\u30e0\u300d\u300c\u767a\u9054\u300d\u3068\u3044\u3046\u5171\u901a\u306e\u60a9\u307f\u304c\u591a\u304f\u3001\u5148\u8f29\u5bb6\u65cf\u304b\u3089\u5f97\u3089\u308c\u308b\u60c5\u5831\u306f\u975e\u5e38\u306b\u5f79\u7acb\u3061\u307e\u3059\u3002\u305f\u3060\u3057\u3001\u300c\u96e3\u8074\u300d\u3084\u300c\u814e\u81d3\u300d\u306b\u3064\u3044\u3066\u306f10p\u7279\u6709\u306e\u30ea\u30b9\u30af\u3067\u3042\u308b\u3053\u3068\u3092\u5ff5\u982d\u306b\u7f6e\u3044\u3066\u60c5\u5831\u4ea4\u63db\u3092\u3059\u308b\u3068\u826f\u3044\u3067\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<p>Q. \u6b21\u306e\u5b50\u306b\u907a\u4f1d\u3057\u307e\u3059\u304b\uff1f<\/p>\n\n\n\n<p>A. \u89aa\u5fa1\u3055\u3093\u306e\u67d3\u8272\u4f53\u691c\u67fb\u306e\u7d50\u679c\u306b\u3088\u308a\u307e\u3059\u3002\u4e21\u89aa\u304c\u6b63\u5e38\uff08de novo\u5909\u7570\uff09\u3067\u3042\u308c\u3070\u3001\u6b21\u306e\u304a\u5b50\u69d8\u304c\u540c\u3058\u75c5\u6c17\u306b\u306a\u308b\u78ba\u7387\u306f\u4e00\u822c\u3068\u540c\u3058\u304f\u975e\u5e38\u306b\u4f4e\u3044\u3067\u3059\uff081%\u4ee5\u4e0b\uff09\u3002\u89aa\u5fa1\u3055\u3093\u304c\u5747\u8861\u578b\u8ee2\u5ea7\u3092\u6301\u3063\u3066\u3044\u308b\u5834\u5408\u306f\u78ba\u7387\u304c\u5909\u308f\u308a\u307e\u3059\u3002<\/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>\u3053\u3053\u307e\u3067\u306e\u91cd\u8981\u30dd\u30a4\u30f3\u30c8\u3092\u632f\u308a\u8fd4\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/microdeletion-syndrome\/\">\u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa4<\/a>2\u578b\uff08DGS2\uff09\u306f\u300110\u756a\u67d3\u8272\u4f53\uff0810p13-p14\uff09\u306e\u6b20\u5931\u306b\u3088\u308b\u75be\u60a3\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u4e00\u822c\u7684\u306aDGS\u306e\u75c7\u72b6\uff08\u5fc3\u81d3\u30fb\u514d\u75ab\u30fbCa\uff09\u306b\u52a0\u3048\u3001<strong>\u611f\u97f3\u6027\u96e3\u8074<\/strong>\u3084<strong>\u814e\u75be\u60a3<\/strong>\u3092\u5408\u4f75\u3057\u3084\u3059\u3044\u306e\u304c\u6700\u5927\u306e\u7279\u5fb4\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u539f\u56e0<\/strong>\u3068\u3057\u3066\u3001<strong>GATA3\u907a\u4f1d\u5b50<\/strong>\u306e\u6b20\u5931\u304c\u6df1\u304f\u95a2\u308f\u3063\u3066\u304a\u308a\u3001HDR\u75c7\u5019\u7fa4\u3068\u91cd\u8907\u3059\u308b\u6982\u5ff5\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8a3a\u65ad<\/strong>\u306b\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u691c\u67fb\u304c\u6709\u52b9\u3067\u3059\uff08\u901a\u5e38\u306e22q\u306e\u691c\u67fb\u3067\u306f\u9670\u6027\u306b\u306a\u308a\u307e\u3059\uff09\u3002<\/li>\n\n\n\n<li><strong>\u7ba1\u7406<\/strong>\u3067\u306f\u3001\u5fc3\u81d3\u30fbCa\u306b\u52a0\u3048\u3001\u8074\u899a\u691c\u67fb\u3068\u814e\u81d3\u30a8\u30b3\u30fc\u304c\u5fc5\u9808\u3067\u3059\u3002<\/li>\n<\/ol>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%AE%B6%E6%97%8F%E3%81%B8%E3%81%AE%E3%83%A1%E3%83%83%E3%82%BB%E3%83%BC%E3%82%B8\"><\/span><strong>\u5bb6\u65cf\u3078\u306e\u30e1\u30c3\u30bb\u30fc\u30b8<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u8a3a\u65ad\u540d\u3092\u805e\u3044\u305f\u76f4\u5f8c\u3001\u3054\u5bb6\u65cf\u306f\u300c\u5fc3\u81d3\u300d\u300c\u514d\u75ab\u300d\u300c\u814e\u81d3\u300d\u300c\u8033\u300d\u3068\u3001\u4f53\u306e\u3042\u3061\u3053\u3061\u306b\u554f\u984c\u304c\u3042\u308b\u53ef\u80fd\u6027\u3092\u544a\u3052\u3089\u308c\u3001\u30d1\u30cb\u30c3\u30af\u306b\u8fd1\u3044\u72b6\u614b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u300c\u3069\u3046\u3057\u3066\u3053\u3093\u306a\u306b\u305f\u304f\u3055\u3093\u306e\u3053\u3068\u304c\u2026\u300d\u3068\u9014\u65b9\u306b\u66ae\u308c\u3066\u3057\u307e\u3046\u3067\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/microdeletion-syndrome\/\">\u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa4<\/a>2\u578b\u306f\u3001\u4e00\u3064\u3072\u3068\u3064\u306e\u75c7\u72b6\u306b\u5bfe\u3057\u3066\u300c\u4f55\u3092\u3059\u308c\u3070\u3088\u3044\u304b\u300d\u304c\u660e\u78ba\u306a\u75c5\u6c17\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u5fc3\u81d3\u306f\u5916\u79d1\u533b\u304c\u6cbb\u3057\u3066\u304f\u308c\u307e\u3059\u3002\u30ab\u30eb\u30b7\u30a6\u30e0\u306f\u85ac\u3067\u88dc\u3048\u307e\u3059\u3002\u8033\u306f\u88dc\u8074\u5668\u304c\u52a9\u3051\u3066\u304f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u305d\u308c\u305e\u308c\u306e\u5c02\u9580\u5bb6\u304c\u30c1\u30fc\u30e0\u3068\u306a\u3063\u3066\u3001\u304a\u5b50\u69d8\u306e\u6210\u9577\u3092\u652f\u3048\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u304a\u5b50\u69d8\u306f\u3001\u8a3a\u65ad\u540d\u306e\u67a0\u306b\u306f\u53ce\u307e\u308a\u307e\u305b\u3093<\/p>\n\n\n\n<p>\u8272\u3005\u306a\u30ea\u30b9\u30af\u304c\u3042\u308b\u3068\u8a00\u308f\u308c\u3066\u3082\u3001\u76ee\u306e\u524d\u306b\u3044\u308b\u304a\u5b50\u69d8\u306f\u3001\u6628\u65e5\u3068\u5909\u308f\u3089\u305a\u53ef\u611b\u3089\u3057\u3044\u6211\u304c\u5b50\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3086\u3063\u304f\u308a\u3067\u3059\u304c\u3001\u7b11\u9854\u3092\u898b\u305b\u3001\u30cf\u30a4\u30cf\u30a4\u3092\u3057\u3001\u304a\u3082\u3061\u3083\u3067\u904a\u3073\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u75c5\u6c17\u306e\u90e8\u5206\u3092\u7ba1\u7406\u3057\u306a\u304c\u3089\u3001\u305d\u306e\u5b50\u81ea\u8eab\u306e\u300c\u597d\u304d\u306a\u3053\u3068\u300d\u300c\u5f97\u610f\u306a\u3053\u3068\u300d\u3092\u305f\u304f\u3055\u3093\u898b\u3064\u3051\u3066\u3042\u3052\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<p>\u533b\u5e2b\u3001\u770b\u8b77\u5e2b\u3001\u7642\u6cd5\u58eb\u3001\u5fc3\u7406\u58eb\u3001\u305d\u3057\u3066\u60a3\u8005\u5bb6\u65cf\u4f1a\u3002\u3042\u306a\u305f\u306e\u5468\u308a\u306b\u306f\u3001\u5473\u65b9\u306b\u306a\u3063\u3066\u304f\u308c\u308b\u4eba\u304c\u305f\u304f\u3055\u3093\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4e0d\u5b89\u306a\u3053\u3068\u306f\u805e\u304d\u3001\u8f9b\u3044\u6642\u306f\u5410\u304d\u51fa\u3057\u3001\u5468\u308a\u3092\u983c\u3063\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<p>\u304a\u5b50\u69d8\u306e\u7b11\u9854\u3092\u5b88\u308b\u305f\u3081\u306b\u3001\u4eca\u65e5\u3067\u304d\u308b\u30b1\u30a2\u3092\u4e00\u3064\u305a\u3064\u7a4d\u307f\u91cd\u306d\u3066\u3044\u304d\u307e\u3057\u3087\u3046\u3002\u79c1\u305f\u3061\u3082\u3001\u305d\u306e\u6b69\u307f\u3092\u5fdc\u63f4\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n","protected":false},"excerpt":{"rendered":"\u304a\u5b50\u69d8\u304c\u300c\u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa42\u578b\uff08DiG&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/digeorge-syndrome-type2-10p-deletion-guide\/\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":122,"featured_media":116410,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[1392],"tags":[],"class_list":["post-121793","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-1392"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/121793","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/users\/122"}],"replies":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/comments?post=121793"}],"version-history":[{"count":1,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/121793\/revisions"}],"predecessor-version":[{"id":121795,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/121793\/revisions\/121795"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/116410"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=121793"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=121793"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=121793"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}