{"id":121850,"date":"2026-01-07T17:45:50","date_gmt":"2026-01-07T08:45:50","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=121850"},"modified":"2026-07-23T06:11:45","modified_gmt":"2026-07-22T21:11:45","slug":"chromosome-16q22-deletion-syndrome-guide","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-16q22-deletion-syndrome-guide\/","title":{"rendered":"16q22\u6b20\u5931\u75c7\u5019\u7fa4\u306b\u3064\u3044\u3066"},"content":{"rendered":"\n<div style=\"border:solid #ffe6e6 0.8rem;background-color: #fff9f9;padding:3% 5%;margin:1rem 0 3rem;\"><h2 style=\"margin-top:1rem;\">\u3053\u306e\u8a18\u4e8b\u306e\u307e\u3068\u3081<\/h2><p><strong>16q22\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u300116\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155(q22\u9818\u57df)\u306b\u3042\u308b\u907a\u4f1d\u60c5\u5831\u306e\u4e00\u90e8\u304c\u5931\u308f\u308c\u3066\u8d77\u3053\u308b\u3001\u975e\u5e38\u306b\u307e\u308c\u306a\u67d3\u8272\u4f53\u75be\u60a3\u3067\u3059\u3002<\/strong>\u539f\u56e0\u306f\u3001\u3053\u306e\u9818\u57df\u306b\u542b\u307e\u308c\u308bCTCF\u907a\u4f1d\u5b50\u306e\u30cf\u30d7\u30ed\u4e0d\u5168\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p><p>\u51fa\u751f\u524d\u304b\u3089\u306e\u6210\u9577\u969c\u5bb3\u3001\u767a\u80b2\u306e\u9045\u308c\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3001\u7279\u5fb4\u7684\u306a\u9854\u7acb\u3061\u306a\u3069\u304c\u307f\u3089\u308c\u307e\u3059\u304c\u3001\u7a0b\u5ea6\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059\u3002\u5927\u534a\u306fde novo(\u7a81\u7136)\u5909\u7570\u3067\u8d77\u3053\u308a\u3001\u80b2\u3066\u65b9\u3084\u598a\u5a20\u4e2d\u306e\u751f\u6d3b\u304c\u539f\u56e0\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p><p>\u8a3a\u65ad\u306f\u67d3\u8272\u4f53<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u691c\u67fb\u3067\u78ba\u5b9a\u3057\u307e\u3059\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>(\u65b0\u578b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>)\u306e\u57fa\u672c\u7684\u306a\u5bfe\u8c61\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u307e\u3060\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u65e9\u671f\u7642\u80b2\u3068\u6804\u990a\u7ba1\u7406\u3067\u751f\u6d3b\u306e\u8cea\u3092\u5927\u304d\u304f\u9ad8\u3081\u3089\u308c\u307e\u3059\u3002<\/p><\/div>\n\n\n\n<div style=\"border:1px solid #e8608a;border-radius:8px;background:#fff5f8;padding:4% 5%;margin:1rem 0 2.5rem;\">\n<p style=\"font-weight:bold;font-size:1.05em;margin-top:0;\">\u3053\u306e\u8a18\u4e8b\u3067\u308f\u304b\u308b\u3053\u3068<\/p>\n<ul style=\"margin-bottom:0;\">\n<li>16q22\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u306f\u3069\u306e\u3088\u3046\u306a\u75c5\u6c17\u304b\u3001\u539f\u56e0\u907a\u4f1d\u5b50CTCF\u3068\u306e\u95a2\u4fc2<\/li>\n<li>\u6210\u9577\u969c\u5bb3\u30fb\u767a\u9054\u306e\u9045\u308c\u30fb\u7279\u5fb4\u7684\u306a\u9854\u7acb\u3061\u306a\u3069\u3001\u4e3b\u306a\u75c7\u72b6\u3068\u500b\u4eba\u5dee<\/li>\n<li>\u75c7\u72b6\u304c\u8d77\u3053\u308b\u539f\u56e0\u3001\u3054\u5bb6\u65cf\u306e\u907a\u4f1d\u7684\u306a\u30ea\u30b9\u30af\u306e\u8003\u3048\u65b9<\/li>\n<li>NIPT\u3068\u306e\u95a2\u4fc2\u3001\u67d3\u8272\u4f53<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u691c\u67fb\u306b\u3088\u308b\u78ba\u5b9a\u8a3a\u65ad\u306e\u6d41\u308c<\/li>\n<li>\u7642\u80b2\u30fb\u6804\u990a\u7ba1\u7406\u30fb\u5bb6\u65cf\u304c\u4f7f\u3048\u308b\u76f8\u8ac7\u7a93\u53e3<\/li>\n<\/ul>\n<\/div>\n\n\n\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"585\" src=\"\/nipt\/wp-content\/uploads\/2025\/11\/image-91-1024x585.webp\" alt=\"16q22\u6b20\u5931\u75c7\u5019\u7fa4\u306b\u3064\u3044\u3066\u89e3\u8aac\u3059\u308b\u30a4\u30e1\u30fc\u30b8\u753b\u50cf\" class=\"wp-image-119789\"\/><\/figure><\/div>\n\n\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_85 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">\u76ee\u6b21<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" height=\"10px\" viewBox=\"0 0 24 24\" version=\"1.2\" baseProfile=\"tiny\"><path d=\"M18.2 9.3l-6.2-6.3-6.2 6.3c-.2.2-.3.4-.3.7s.1.5.3.7c.2.2.4.3.7.3h11c.3 0 .5-.1.7-.3.2-.2.3-.5.3-.7s-.1-.5-.3-.7zM5.8 14.7l6.2 6.3 6.2-6.3c.2-.2.3-.5.3-.7s-.1-.5-.3-.7c-.2-.2-.4-.3-.7-.3h-11c-.3 0-.5.1-.7.3-.2.2-.3.5-.3.7s.1.5.3.7z\"\/><\/svg><\/span><\/span><\/span><\/a><\/span><\/div>\n<nav><ul class='ez-toc-list ez-toc-list-level-1 ' ><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-1\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-16q22-deletion-syndrome-guide\/#16q22%E6%AC%A0%E5%A4%B1%E7%97%87%E5%80%99%E7%BE%A4%E3%81%A8%E3%81%AF%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E7%97%85%E6%B0%97%E3%81%8B\" >16q22\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u306f\u3069\u306e\u3088\u3046\u306a\u75c5\u6c17\u304b<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-16q22-deletion-syndrome-guide\/#%E6%9F%93%E8%89%B2%E4%BD%93%E3%81%AE%E3%80%8C%E4%BD%8F%E6%89%80%E3%80%8D%E3%82%92%E8%AA%AD%E3%81%BF%E8%A7%A3%E3%81%8F\" >\u67d3\u8272\u4f53\u306e\u300c\u4f4f\u6240\u300d\u3092\u8aad\u307f\u89e3\u304f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-16q22-deletion-syndrome-guide\/#%E3%81%A9%E3%81%AE%E3%81%8F%E3%82%89%E3%81%84%E3%81%BE%E3%82%8C%E3%81%AA%E7%97%85%E6%B0%97%E3%81%AA%E3%81%AE%E3%81%8B\" >\u3069\u306e\u304f\u3089\u3044\u307e\u308c\u306a\u75c5\u6c17\u306a\u306e\u304b<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-16q22-deletion-syndrome-guide\/#%E3%80%8C%E4%BD%93%E3%81%AE%E8%A8%AD%E8%A8%88%E5%9B%B3%E3%80%8D%E3%81%AE%E4%B8%80%E9%83%A8%E3%81%8C%E6%AC%A0%E3%81%91%E3%81%A6%E3%81%84%E3%82%8B%E7%8A%B6%E6%85%8B\" >\u300c\u4f53\u306e\u8a2d\u8a08\u56f3\u300d\u306e\u4e00\u90e8\u304c\u6b20\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\/chromosome-16q22-deletion-syndrome-guide\/#%E4%B8%BB%E3%81%AA%E7%97%87%E7%8A%B6%EF%BD%9C%E6%88%90%E9%95%B7%E9%9A%9C%E5%AE%B3%E3%83%BB%E7%99%BA%E9%81%94%E3%81%AE%E9%81%85%E3%82%8C%E3%83%BB%E7%89%B9%E5%BE%B4%E7%9A%84%E3%81%AA%E9%A1%94%E7%AB%8B%E3%81%A1\" >\u4e3b\u306a\u75c7\u72b6\uff5c\u6210\u9577\u969c\u5bb3\u30fb\u767a\u9054\u306e\u9045\u308c\u30fb\u7279\u5fb4\u7684\u306a\u9854\u7acb\u3061<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-16q22-deletion-syndrome-guide\/#%E6%88%90%E9%95%B7%E9%9A%9C%E5%AE%B3%E5%87%BA%E7%94%9F%E5%89%8D%E5%BE%8C%E3%81%AE%E7%99%BA%E8%82%B2%E4%B8%8D%E5%85%A8\" >\u6210\u9577\u969c\u5bb3(\u51fa\u751f\u524d\u5f8c\u306e\u767a\u80b2\u4e0d\u5168)<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-16q22-deletion-syndrome-guide\/#%E7%99%BA%E9%81%94%E3%81%A8%E7%9F%A5%E8%83%BD%E3%81%AE%E7%89%B9%E5%BE%B4\" >\u767a\u9054\u3068\u77e5\u80fd\u306e\u7279\u5fb4<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-16q22-deletion-syndrome-guide\/#%E7%89%B9%E5%BE%B4%E7%9A%84%E3%81%AA%E3%81%8A%E9%A1%94%E7%AB%8B%E3%81%A1%E3%83%BB%E8%BA%AB%E4%BD%93%E3%81%AE%E6%89%80%E8%A6%8B\" >\u7279\u5fb4\u7684\u306a\u304a\u9854\u7acb\u3061\u30fb\u8eab\u4f53\u306e\u6240\u898b<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-16q22-deletion-syndrome-guide\/#%E7%AD%8B%E7%B7%8A%E5%BC%B5%E4%BD%8E%E4%B8%8B%E3%83%8F%E3%82%A4%E3%83%9D%E3%83%88%E3%83%8B%E3%82%A2\" >\u7b4b\u7dca\u5f35\u4f4e\u4e0b(\u30cf\u30a4\u30dd\u30c8\u30cb\u30a2)<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-16q22-deletion-syndrome-guide\/#%E3%81%9D%E3%81%AE%E4%BB%96%E3%81%AE%E5%90%88%E4%BD%B5%E7%97%87\" >\u305d\u306e\u4ed6\u306e\u5408\u4f75\u75c7<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-16q22-deletion-syndrome-guide\/#%E5%8E%9F%E5%9B%A0%EF%BD%9CCTCF%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%A8de_novo%E5%A4%89%E7%95%B0\" >\u539f\u56e0\uff5cCTCF\u907a\u4f1d\u5b50\u3068de novo\u5909\u7570<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-12\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-16q22-deletion-syndrome-guide\/#%E7%AA%81%E7%84%B6%E5%A4%89%E7%95%B0de_novo%E5%A4%89%E7%95%B0%E3%81%8C%E5%A4%A7%E5%8D%8A%E3%82%92%E5%8D%A0%E3%82%81%E3%82%8B\" >\u7a81\u7136\u5909\u7570(de novo\u5909\u7570)\u304c\u5927\u534a\u3092\u5360\u3081\u308b<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-13\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-16q22-deletion-syndrome-guide\/#%E8%A6%AA%E3%81%AE%E6%9F%93%E8%89%B2%E4%BD%93%E8%BB%A2%E5%BA%A7%E3%81%AB%E3%82%88%E3%82%8B%E3%82%B1%E3%83%BC%E3%82%B9%E3%81%BE%E3%82%8C\" >\u89aa\u306e\u67d3\u8272\u4f53\u8ee2\u5ea7\u306b\u3088\u308b\u30b1\u30fc\u30b9(\u307e\u308c)<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-16q22-deletion-syndrome-guide\/#%E9%87%8D%E8%A6%81%E9%81%BA%E4%BC%9D%E5%AD%90CTCF%E3%81%AE%E5%BD%B9%E5%89%B2\" >\u91cd\u8981\u907a\u4f1d\u5b50CTCF\u306e\u5f79\u5272<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-15\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-16q22-deletion-syndrome-guide\/#%E8%A8%BA%E6%96%AD%E3%81%A8%E6%A4%9C%E6%9F%BB%EF%BD%9C%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%E3%81%A7%E7%A2%BA%E5%AE%9A%E3%81%99%E3%82%8B\" >\u8a3a\u65ad\u3068\u691c\u67fb\uff5c\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\u3067\u78ba\u5b9a\u3059\u308b<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-16q22-deletion-syndrome-guide\/#%E5%87%BA%E7%94%9F%E5%89%8D%E6%A4%9C%E6%9F%BB%E3%81%A7%E3%81%AE%E4%BD%8D%E7%BD%AE%E3%81%A5%E3%81%91NIPT%E3%81%A8%E3%81%AE%E9%96%A2%E4%BF%82\" >\u51fa\u751f\u524d\u691c\u67fb\u3067\u306e\u4f4d\u7f6e\u3065\u3051(NIPT\u3068\u306e\u95a2\u4fc2)<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-16q22-deletion-syndrome-guide\/#%E7%A2%BA%E5%AE%9A%E8%A8%BA%E6%96%AD%E3%81%AF%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%E3%81%A7\" >\u78ba\u5b9a\u8a3a\u65ad\u306f\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\u3067<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-18\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-16q22-deletion-syndrome-guide\/#%E5%90%88%E4%BD%B5%E7%97%87%E3%82%92%E8%AA%BF%E3%81%B9%E3%82%8B%E7%94%BB%E5%83%8F%E6%A4%9C%E6%9F%BB%E3%83%BB%E6%A9%9F%E8%83%BD%E6%A4%9C%E6%9F%BB\" >\u5408\u4f75\u75c7\u3092\u8abf\u3079\u308b\u753b\u50cf\u691c\u67fb\u30fb\u6a5f\u80fd\u691c\u67fb<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-19\" 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ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-29\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-16q22-deletion-syndrome-guide\/#Q_%E5%AF%BF%E5%91%BD%E3%81%AB%E5%BD%B1%E9%9F%BF%E3%81%AF%E3%81%82%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\" >Q. \u5bff\u547d\u306b\u5f71\u97ff\u306f\u3042\u308a\u307e\u3059\u304b\uff1f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-30\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-16q22-deletion-syndrome-guide\/#Q_16q22%E6%AC%A0%E5%A4%B1%E3%81%A816p112%E6%AC%A0%E5%A4%B1%E3%81%AF%E5%90%8C%E3%81%98%E7%97%85%E6%B0%97%E3%81%A7%E3%81%99%E3%81%8B%EF%BC%9F\" >Q. 16q22\u6b20\u5931\u306816p11.2\u6b20\u5931\u306f\u540c\u3058\u75c5\u6c17\u3067\u3059\u304b\uff1f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-31\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-16q22-deletion-syndrome-guide\/#Q_%E8%A6%AA%E3%81%AE%E8%82%B2%E3%81%A6%E6%96%B9%E3%82%84%E5%A6%8A%E5%A8%A0%E4%B8%AD%E3%81%AE%E9%81%8E%E3%81%94%E3%81%97%E6%96%B9%E3%81%8C%E5%8E%9F%E5%9B%A0%E3%81%A7%E3%81%99%E3%81%8B%EF%BC%9F\" >Q. \u89aa\u306e\u80b2\u3066\u65b9\u3084\u598a\u5a20\u4e2d\u306e\u904e\u3054\u3057\u65b9\u304c\u539f\u56e0\u3067\u3059\u304b\uff1f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-32\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-16q22-deletion-syndrome-guide\/#Q_%E5%85%84%E5%BC%9F%E5%A7%89%E5%A6%B9%E3%81%B8%E3%81%AE%E5%BD%B1%E9%9F%BF%E3%81%AF%E3%81%82%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\" >Q. \u5144\u5f1f\u59c9\u59b9\u3078\u306e\u5f71\u97ff\u306f\u3042\u308a\u307e\u3059\u304b\uff1f<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-33\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-16q22-deletion-syndrome-guide\/#%E3%81%BE%E3%81%A8%E3%82%81\" >\u307e\u3068\u3081<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-34\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-16q22-deletion-syndrome-guide\/#%E5%AE%B6%E6%97%8F%E3%81%B8%E3%81%AE%E3%83%A1%E3%83%83%E3%82%BB%E3%83%BC%E3%82%B8\" >\u5bb6\u65cf\u3078\u306e\u30e1\u30c3\u30bb\u30fc\u30b8<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-35\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-16q22-deletion-syndrome-guide\/#%E6%AC%A1%E3%81%AE%E3%82%A2%E3%82%AF%E3%82%B7%E3%83%A7%E3%83%B3%EF%BC%9A%E3%81%BE%E3%81%9A%E7%A2%BA%E8%AA%8D%E3%81%97%E3%81%9F%E3%81%84%E3%81%93%E3%81%A8\" >\u6b21\u306e\u30a2\u30af\u30b7\u30e7\u30f3\uff1a\u307e\u305a\u78ba\u8a8d\u3057\u305f\u3044\u3053\u3068<\/a><\/li><\/ul><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"16q22%E6%AC%A0%E5%A4%B1%E7%97%87%E5%80%99%E7%BE%A4%E3%81%A8%E3%81%AF%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>16q22\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u306f\u3069\u306e\u3088\u3046\u306a\u75c5\u6c17\u304b<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>16q22\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u300116\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\u306b\u3042\u308bq22\u3068\u3044\u3046\u9818\u57df\u306e\u907a\u4f1d\u60c5\u5831\u304c\u4e00\u90e8\u5931\u308f\u308c\u3066\u8d77\u3053\u308b\u3001\u304d\u308f\u3081\u3066\u307e\u308c\u306a\u5148\u5929\u6027\u75be\u60a3\u3067\u3059\u3002<\/strong>\u3053\u306e\u9818\u57df\u306b\u306fCTCF\u907a\u4f1d\u5b50\u3068\u3044\u3046\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u304a\u308a\u3001\u305d\u306e\u50cd\u304d\u304c\u534a\u5206\u306b\u306a\u308b\u3053\u3068(\u30cf\u30d7\u30ed\u4e0d\u5168)\u304c\u75c7\u72b6\u306e\u4e2d\u5fc3\u7684\u306a\u539f\u56e0\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u307e\u305a\u306f\u75c5\u540d\u306e\u610f\u5473\u3068\u3001\u75c5\u6c17\u306e\u5168\u4f53\u50cf\u304b\u3089\u78ba\u8a8d\u3057\u3066\u3044\u304d\u307e\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<p>\u304a\u5b50\u69d8\u304c\u300c16\u756a\u67d3\u8272\u4f53q22\u6b20\u5931\u300d\u3068\u3044\u3046\u8a3a\u65ad\u540d\u3092\u544a\u3052\u3089\u308c\u305f\u3068\u304d\u3001\u805e\u304d\u6163\u308c\u306a\u3044\u5c02\u9580\u7528\u8a9e\u306e\u7f85\u5217\u306b\u4e0d\u5b89\u3092\u899a\u3048\u305f\u306e\u3067\u306f\u306a\u3044\u3067\u3057\u3087\u3046\u304b\u3002\u30a4\u30f3\u30bf\u30fc\u30cd\u30c3\u30c8\u3067\u691c\u7d22\u3057\u3066\u3082\u300116\u756a\u67d3\u8272\u4f53\u306e\u4ed6\u306e\u5909\u5316(16p11.2\u5468\u8fba\u306e\u6b20\u5931\u75c7\u5019\u7fa4\u306a\u3069)\u306e\u60c5\u5831\u306f\u898b\u3064\u304b\u308a\u307e\u3059\u3002\u3057\u304b\u3057\u3001q22\u3068\u3044\u3046\u7279\u5b9a\u306e\u9818\u57df\u306b\u3064\u3044\u3066\u306e\u65e5\u672c\u8a9e\u60c5\u5831\u306f\u975e\u5e38\u306b\u5c11\u306a\u3044\u306e\u304c\u5b9f\u60c5\u3067\u3059\u3002<\/p>\n\n\n\n<figure class=\"wp-block-image aligncenter\" style=\"margin:1.5rem auto;\">\n<svg role=\"img\" aria-label=\"16\u756a\u67d3\u8272\u4f53\u306e\u9577\u3044\u8155\u306b\u3042\u308bq22\u9818\u57df\u306e\u4e00\u90e8\u304c\u6b20\u3051\u3066\u3044\u308b\u69d8\u5b50\u3092\u793a\u3057\u305f\u56f3\" viewBox=\"0 0 720 260\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" style=\"max-width:720px;width:100%;height:auto;font-family:sans-serif;\">\n  <rect x=\"0\" y=\"0\" width=\"720\" height=\"260\" fill=\"#fff9fb\"\/>\n  <text x=\"360\" y=\"40\" text-anchor=\"middle\" font-size=\"20\" fill=\"#5a2b3a\">16\u756a\u67d3\u8272\u4f53\u3068q22\u9818\u57df\u306e\u30a4\u30e1\u30fc\u30b8<\/text>\n  <rect x=\"150\" y=\"70\" width=\"60\" height=\"60\" rx=\"8\" fill=\"#f6b8cd\"\/>\n  <text x=\"180\" y=\"150\" text-anchor=\"middle\" font-size=\"15\" fill=\"#5a2b3a\">\u77ed\u3044\u8155(p)<\/text>\n  <rect x=\"150\" y=\"135\" width=\"60\" height=\"80\" rx=\"8\" fill=\"#fbe1eb\"\/>\n  <text x=\"180\" y=\"235\" text-anchor=\"middle\" font-size=\"15\" fill=\"#5a2b3a\">\u9577\u3044\u8155(q)<\/text>\n  <rect x=\"360\" y=\"90\" width=\"300\" height=\"120\" rx=\"12\" fill=\"#fbe1eb\"\/>\n  <text x=\"510\" y=\"122\" text-anchor=\"middle\" font-size=\"16\" fill=\"#5a2b3a\">q22\u9818\u57df<\/text>\n  <rect x=\"440\" y=\"145\" width=\"60\" height=\"30\" rx=\"4\" fill=\"#e8608a\"\/>\n  <text x=\"510\" y=\"190\" text-anchor=\"middle\" font-size=\"14\" fill=\"#5a2b3a\">CTCF\u907a\u4f1d\u5b50\u3092\u542b\u3080\u7bc4\u56f2\u304c<\/text>\n  <text x=\"510\" y=\"208\" text-anchor=\"middle\" font-size=\"14\" fill=\"#5a2b3a\">\u5931\u308f\u308c\u3066\u3044\u308b(\u6b20\u5931)<\/text>\n<\/svg>\n<figcaption>16\u756a\u67d3\u8272\u4f53q22\u9818\u57df\u306e\u3046\u3061CTCF\u907a\u4f1d\u5b50\u3092\u542b\u3080\u7bc4\u56f2\u304c\u6b20\u3051\u3066\u3044\u308b\u30a4\u30e1\u30fc\u30b8<\/figcaption>\n<\/figure>\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<p>\u3053\u306e\u75c5\u540d\u306f\u3001\u67d3\u8272\u4f53\u306e\u3069\u3053\u306b\u5909\u5316\u304c\u8d77\u304d\u3066\u3044\u308b\u304b\u3068\u3044\u3046\u300c\u4f4f\u6240\u300d\u3092\u8868\u3057\u3066\u3044\u307e\u3059\u3002\u3072\u3068\u3064\u305a\u3064\u6574\u7406\u3057\u3066\u307f\u307e\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Chromosome 16(16\u756a\u67d3\u8272\u4f53): \u30d2\u30c8\u304c\u6301\u306423\u5bfe\u306e\u67d3\u8272\u4f53\u306e\u3046\u3061\u3001\u4e2d\u304f\u3089\u3044\u306e\u5927\u304d\u3055\u306e16\u756a\u76ee\u306e\u67d3\u8272\u4f53\u3067\u3059\u3002<\/li>\n\n\n\n<li>q(\u9577\u8155): \u67d3\u8272\u4f53\u306e\u304f\u3073\u308c(\u52d5\u539f\u4f53)\u3092\u5883\u306b\u3001\u77ed\u3044\u65b9\u3092\u300c\u77ed\u8155(p)\u300d\u3001\u9577\u3044\u65b9\u3092\u300c\u9577\u8155(q)\u300d\u3068\u547c\u3073\u307e\u3059\u3002\u4eca\u56de\u306f\u9577\u3044\u65b9\u306e\u8155\u306b\u5909\u5316\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>22(\u30d0\u30f3\u30c9): \u9577\u8155\u306e\u4e2d\u306e\u300c\u30d0\u30f3\u30c9\u300d\u3068\u547c\u3070\u308c\u308b\u533a\u753b\u306e22\u756a\u5730\u304c\u6b20\u3051\u3066\u3044\u308b\u3053\u3068\u3092\u610f\u5473\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>Deletion(\u6b20\u5931): \u305d\u306e\u90e8\u5206\u306e\u907a\u4f1d\u60c5\u5831\u304c\u629c\u3051\u843d\u3061\u3066\u3044\u308b\u72b6\u614b\u3092\u6307\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%A9%E3%81%AE%E3%81%8F%E3%82%89%E3%81%84%E3%81%BE%E3%82%8C%E3%81%AA%E7%97%85%E6%B0%97%E3%81%AA%E3%81%AE%E3%81%8B\"><\/span><strong>\u3069\u306e\u304f\u3089\u3044\u307e\u308c\u306a\u75c5\u6c17\u306a\u306e\u304b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>16q22\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u3001\u3053\u308c\u307e\u3067\u4e16\u754c\u3067\u5831\u544a\u3055\u308c\u305f\u75c7\u4f8b\u6570\u304c\u9650\u3089\u308c\u308b\u3001\u304d\u308f\u3081\u3066\u307e\u308c\u306a\u67d3\u8272\u4f53\u75be\u60a3\u3067\u3059\u3002\u6b63\u78ba\u306a\u6709\u75c5\u7387\u306f\u307e\u3060\u5b9a\u307e\u3063\u3066\u3044\u307e\u305b\u3093\u3002GeneReviews\u304c\u96c6\u8a08\u3057\u305fCTCF\u907a\u4f1d\u5b50\u306e\u5909\u5316\u5168\u4f53(\u70b9\u5909\u7570\u3068\u6b20\u5931\u3092\u3042\u308f\u305b\u305f\u3082\u306e)\u306e\u56fd\u969b\u7684\u306a\u5831\u544a\u3067\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u30fb\u767a\u9054\u306e\u9045\u308c\u304c9\u5272\u8d85\u306e\u65b9\u306b\u307f\u3089\u308c\u307e\u3059\u3002\u4e00\u65b9\u3067\u3001\u75c7\u72b6\u306e\u91cd\u3055\u306b\u306f\u5927\u304d\u306a\u5e45\u304c\u3042\u308b\u3053\u3068\u3082\u5206\u304b\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6570\u5b57\u3060\u3051\u3092\u898b\u308b\u3068\u8eab\u69cb\u3048\u3066\u3057\u307e\u3046\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002\u3057\u304b\u3057\u3001\u6b20\u5931\u306e\u7bc4\u56f2\u3084\u542b\u307e\u308c\u308b\u907a\u4f1d\u5b50\u306e\u7d44\u307f\u5408\u308f\u305b\u306b\u3088\u3063\u3066\u75c7\u72b6\u306e\u51fa\u65b9\u306f\u4e00\u4eba\u3072\u3068\u308a\u7570\u306a\u308a\u307e\u3059\u3002\u76ee\u306e\u524d\u306e\u304a\u5b50\u69d8\u306e\u69d8\u5b50\u3092\u4e01\u5be7\u306b\u898b\u3066\u3044\u304f\u3053\u3068\u3053\u305d\u304c\u3001\u4f55\u3088\u308a\u306e\u624b\u304c\u304b\u308a\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%80%8C%E4%BD%93%E3%81%AE%E8%A8%AD%E8%A8%88%E5%9B%B3%E3%80%8D%E3%81%AE%E4%B8%80%E9%83%A8%E3%81%8C%E6%AC%A0%E3%81%91%E3%81%A6%E3%81%84%E3%82%8B%E7%8A%B6%E6%85%8B\"><\/span><strong>\u300c\u4f53\u306e\u8a2d\u8a08\u56f3\u300d\u306e\u4e00\u90e8\u304c\u6b20\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(\u4f53\u306e\u8a2d\u8a08\u56f3)\u300d\u306b\u4f8b\u3048\u3066\u307f\u307e\u3057\u3087\u3046\u3002\u3053\u306e\u75c7\u5019\u7fa4\u306f\u300c\u7b2c16\u5dfb\u306eq22\u3068\u3044\u3046\u7ae0\u306e\u30da\u30fc\u30b8\u306e\u4e00\u90e8\u304c\u629c\u3051\u843d\u3061\u3066\u3044\u308b\u300d\u72b6\u614b\u306b\u3042\u305f\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5931\u308f\u308c\u305f\u30da\u30fc\u30b8\u306b\u306f\u3001\u4f53\u306e\u6210\u9577\u3084\u8133\u306e\u767a\u9054\u306b\u95a2\u308f\u308b\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u307e\u3059\u3002\u306a\u304b\u3067\u3082CTCF\u907a\u4f1d\u5b50(16q22.1\u4ed8\u8fd1)\u306f\u3001DNA\u306e\u7acb\u4f53\u69cb\u9020\u3092\u8abf\u6574\u3059\u308b\u907a\u4f1d\u5b50\u3067\u3059\u3002\u591a\u6570\u306e\u907a\u4f1d\u5b50\u306e\u30b9\u30a4\u30c3\u30c1\u3092\u5236\u5fa1\u3059\u308b\u3001\u3044\u308f\u3070\u53f8\u4ee4\u5854\u3002\u3053\u306e\u907a\u4f1d\u5b50\u304c\u4e0d\u8db3\u3059\u308b\u3053\u3068\u3067\u3001\u6210\u9577\u3084\u767a\u9054\u304c\u3086\u3063\u304f\u308a\u306b\u306a\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%B8%BB%E3%81%AA%E7%97%87%E7%8A%B6%EF%BD%9C%E6%88%90%E9%95%B7%E9%9A%9C%E5%AE%B3%E3%83%BB%E7%99%BA%E9%81%94%E3%81%AE%E9%81%85%E3%82%8C%E3%83%BB%E7%89%B9%E5%BE%B4%E7%9A%84%E3%81%AA%E9%A1%94%E7%AB%8B%E3%81%A1\"><\/span>\u4e3b\u306a\u75c7\u72b6\uff5c\u6210\u9577\u969c\u5bb3\u30fb\u767a\u9054\u306e\u9045\u308c\u30fb\u7279\u5fb4\u7684\u306a\u9854\u7acb\u3061<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>16q22\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u4e3b\u306a\u75c7\u72b6\u306f\u3001\u6210\u9577\u969c\u5bb3\u30fb\u767a\u9054\u306e\u9045\u308c\u30fb\u7279\u5fb4\u7684\u306a\u9854\u7acb\u3061\u3067\u3059\u3002<\/strong>\u7d44\u307f\u5408\u308f\u305b\u3068\u91cd\u3055\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059\u3002\u6b20\u5931\u3057\u3066\u3044\u308b\u7bc4\u56f2\u306e\u5927\u304d\u3055\u3084\u3001CTCF\u4ee5\u5916\u306b\u3069\u306e\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u308b\u304b\u306b\u3088\u3063\u3066\u73fe\u308c\u65b9\u304c\u7570\u306a\u308a\u307e\u3059\u3002\u3053\u308c\u307e\u3067\u306e\u5831\u544a\u304b\u3089\u6bd4\u8f03\u7684\u3088\u304f\u307f\u3089\u308c\u308b\u7279\u5fb4\u3092\u6574\u7406\u3057\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<figure class=\"wp-block-image aligncenter\" style=\"margin:1.5rem auto;\">\n<svg role=\"img\" aria-label=\"16q22\u6b20\u5931\u75c7\u5019\u7fa4\u3067\u307f\u3089\u308c\u308b\u3053\u3068\u306e\u3042\u308b\u4e3b\u306a\u75c7\u72b6\u3092\u6210\u9577\u969c\u5bb3\u30fb\u767a\u9054\u306e\u9045\u308c\u30fb\u7279\u5fb4\u7684\u306a\u9854\u7acb\u3061\u30fb\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u30fb\u5408\u4f75\u75c7\u306b\u5206\u3051\u3066\u793a\u3057\u305f\u56f3\" viewBox=\"0 0 720 300\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" style=\"max-width:720px;width:100%;height:auto;font-family:sans-serif;\">\n  <rect x=\"0\" y=\"0\" width=\"720\" height=\"300\" fill=\"#fff9fb\"\/>\n  <text x=\"360\" y=\"38\" text-anchor=\"middle\" font-size=\"20\" fill=\"#5a2b3a\">\u307f\u3089\u308c\u308b\u3053\u3068\u306e\u3042\u308b\u4e3b\u306a\u75c7\u72b6<\/text>\n  <rect x=\"40\" y=\"60\" width=\"200\" height=\"90\" rx=\"12\" fill=\"#f6b8cd\"\/>\n  <text x=\"140\" y=\"100\" text-anchor=\"middle\" font-size=\"16\" fill=\"#5a2b3a\">\u6210\u9577\u969c\u5bb3<\/text>\n  <text x=\"140\" y=\"125\" text-anchor=\"middle\" font-size=\"14\" fill=\"#5a2b3a\">IUGR\u30fb\u5c0f\u982d\u75c7<\/text>\n  <rect x=\"260\" y=\"60\" width=\"200\" height=\"90\" rx=\"12\" fill=\"#fbe1eb\"\/>\n  <text x=\"360\" y=\"100\" text-anchor=\"middle\" font-size=\"16\" fill=\"#5a2b3a\">\u767a\u9054\u306e\u9045\u308c<\/text>\n  <text x=\"360\" y=\"125\" text-anchor=\"middle\" font-size=\"14\" fill=\"#5a2b3a\"><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u30fb\u8a00\u8449\u306e\u9045\u308c<\/text>\n  <rect x=\"480\" y=\"60\" width=\"200\" height=\"90\" rx=\"12\" fill=\"#f6b8cd\"\/>\n  <text x=\"580\" y=\"100\" text-anchor=\"middle\" font-size=\"16\" fill=\"#5a2b3a\">\u7279\u5fb4\u7684\u306a\u9854\u7acb\u3061<\/text>\n  <text x=\"580\" y=\"125\" text-anchor=\"middle\" font-size=\"14\" fill=\"#5a2b3a\">\u5927\u6cc9\u9580\u958b\u5927\u306a\u3069<\/text>\n  <rect x=\"40\" y=\"170\" width=\"200\" height=\"90\" rx=\"12\" fill=\"#fbe1eb\"\/>\n  <text x=\"140\" y=\"205\" text-anchor=\"middle\" font-size=\"15\" fill=\"#5a2b3a\">\u7b4b\u7dca\u5f35\u4f4e\u4e0b<\/text>\n  <text x=\"140\" y=\"225\" text-anchor=\"middle\" font-size=\"14\" fill=\"#5a2b3a\">\u54fa\u4e73\u969c\u5bb3<\/text>\n  <rect x=\"260\" y=\"170\" width=\"200\" height=\"90\" rx=\"12\" fill=\"#f6b8cd\"\/>\n  <text x=\"360\" y=\"205\" text-anchor=\"middle\" font-size=\"15\" fill=\"#5a2b3a\">\u5408\u4f75\u75c7<\/text>\n  <text x=\"360\" y=\"225\" text-anchor=\"middle\" font-size=\"14\" fill=\"#5a2b3a\">\u5fc3\u75be\u60a3\u30fb\u659c\u8996\u306a\u3069<\/text>\n  <rect x=\"480\" y=\"170\" width=\"200\" height=\"90\" rx=\"12\" fill=\"#fbe1eb\"\/>\n  <text x=\"580\" y=\"205\" text-anchor=\"middle\" font-size=\"16\" fill=\"#5a2b3a\">\u500b\u4eba\u5dee\u304c\u5927\u304d\u3044<\/text>\n<\/svg>\n<figcaption>16q22\u6b20\u5931\u75c7\u5019\u7fa4\u3067\u307f\u3089\u308c\u308b\u3053\u3068\u306e\u3042\u308b\u4e3b\u306a\u75c7\u72b6\u306e\u30a4\u30e1\u30fc\u30b8<\/figcaption>\n<\/figure>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%88%90%E9%95%B7%E9%9A%9C%E5%AE%B3%E5%87%BA%E7%94%9F%E5%89%8D%E5%BE%8C%E3%81%AE%E7%99%BA%E8%82%B2%E4%B8%8D%E5%85%A8\"><\/span><strong>\u6210\u9577\u969c\u5bb3(\u51fa\u751f\u524d\u5f8c\u306e\u767a\u80b2\u4e0d\u5168)<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u591a\u304f\u306e\u3054\u5bb6\u65cf\u304c\u598a\u5a20\u4e2d\u3001\u3042\u308b\u3044\u306f\u51fa\u751f\u5f8c\u306e\u65e9\u3044\u6642\u671f\u306b\u6c17\u3065\u304f\u75c7\u72b6\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5b50\u5bae\u5185\u767a\u80b2\u4e0d\u5168(IUGR): \u304a\u8179\u306e\u4e2d\u306b\u3044\u308b\u6642\u304b\u3089\u3001\u8d64\u3061\u3083\u3093\u304c\u5c0f\u3055\u3081\u3067\u3042\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u51fa\u751f\u5f8c\u306e\u6210\u9577\u969c\u5bb3: \u751f\u307e\u308c\u305f\u5f8c\u3082\u8eab\u9577\u30fb\u4f53\u91cd\u306e\u5897\u3048\u65b9\u304c\u7de9\u3084\u304b\u3067\u3059\u3002\u300c\u30df\u30eb\u30af\u3092\u98f2\u3093\u3067\u3044\u308b\u306e\u306b\u4f53\u91cd\u304c\u5897\u3048\u306a\u3044\u300d\u3068\u3044\u3046\u60a9\u307f\u306b\u3064\u306a\u304c\u308a\u3084\u3059\u3044\u75c7\u72b6\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u5c0f\u982d\u75c7: \u4f53\u306e\u5c0f\u3055\u3055\u306b\u6bd4\u4f8b\u3057\u3066\u3001\u982d\u56f2\u3082\u5e73\u5747\u3088\u308a\u5c0f\u3055\u304f\u306a\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002\u5831\u544a\u3067\u306f\u304a\u3088\u305d4\u4eba\u306b1\u4eba\u306b\u307f\u3089\u308c\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%99%BA%E9%81%94%E3%81%A8%E7%9F%A5%E8%83%BD%E3%81%AE%E7%89%B9%E5%BE%B4\"><\/span><strong>\u767a\u9054\u3068\u77e5\u80fd\u306e\u7279\u5fb4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u67d3\u8272\u4f53\u306e\u6b20\u5931\u306b\u4f34\u3044\u3001\u767a\u9054\u9762\u3067\u306e\u30b5\u30dd\u30fc\u30c8\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\u3059\u3002GeneReviews\u306b\u3088\u308bCTCF\u907a\u4f1d\u5b50\u306e\u5909\u5316\u306b\u95a2\u3059\u308b\u56fd\u969b\u7684\u306a\u5831\u544a\u3067\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u30fb\u767a\u9054\u306e\u9045\u308c\u304c9\u5272\u8d85\u3068\u591a\u6570\u3092\u5360\u3081\u307e\u3059\u3002\u767a\u8a9e\u306e\u9045\u308c\u306f6\u5272\u8d85\u3001\u6b69\u884c\u306a\u3069\u904b\u52d5\u767a\u9054\u306e\u9045\u308c\u306f5\u5272\u7a0b\u5ea6\u306b\u307f\u3089\u308c\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u7cbe\u795e\u904b\u52d5\u767a\u9054\u9045\u6ede: \u9996\u306e\u3059\u308f\u308a\u30fb\u304a\u5ea7\u308a\u30fb\u6b69\u884c\u306a\u3069\u306e\u767a\u9054\u304c\u3001\u5e73\u5747\u3088\u308a\u3086\u3063\u304f\u308a\u3057\u305f\u30da\u30fc\u30b9\u3067\u9032\u307f\u307e\u3059\u3002\u5e73\u5747\u7684\u306a\u6b69\u884c\u958b\u59cb\u306f1\u6b73\u534a\u9803\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u307e\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>: \u8efd\u5ea6\u304b\u3089\u91cd\u5ea6\u307e\u3067\u5e45\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u4e2d\u7b49\u5ea6\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u304c\u6bd4\u8f03\u7684\u591a\u304f\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8a00\u8449\u306e\u9045\u308c: \u767a\u8a9e\u304c\u9045\u308c\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002\u767a\u8a9e\u304c\u96e3\u3057\u3044\u5834\u5408\u3067\u3082\u3001\u3053\u3061\u3089\u306e\u8a71\u3092\u7406\u89e3\u3057\u3066\u3044\u308b(\u53d7\u5bb9\u8a00\u8a9e\u304c\u826f\u3044)\u30b1\u30fc\u30b9\u3082\u5c11\u306a\u304f\u3042\u308a\u307e\u305b\u3093\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u500b\u4eba\u5dee\u306e\u5927\u304d\u3055\u3002\u3053\u308c\u304c\u3053\u306e\u75c5\u6c17\u306e\u7406\u89e3\u3092\u96e3\u3057\u304f\u3082\u3057\u3001\u540c\u6642\u306b\u5e0c\u671b\u306b\u3082\u3064\u306a\u304c\u308b\u7279\u5fb4\u3067\u3059\u3002\u5e73\u5747\u50cf\u306b\u3068\u3089\u308f\u308c\u305a\u3001\u305d\u306e\u5b50\u81ea\u8eab\u306e\u30da\u30fc\u30b9\u3092\u898b\u3064\u3081\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%89%B9%E5%BE%B4%E7%9A%84%E3%81%AA%E3%81%8A%E9%A1%94%E7%AB%8B%E3%81%A1%E3%83%BB%E8%BA%AB%E4%BD%93%E3%81%AE%E6%89%80%E8%A6%8B\"><\/span><strong>\u7279\u5fb4\u7684\u306a\u304a\u9854\u7acb\u3061\u30fb\u8eab\u4f53\u306e\u6240\u898b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u300c16q22\u6b20\u5931\u7279\u6709\u306e\u9854\u300d\u3068\u65ad\u5b9a\u3067\u304d\u308b\u307b\u3069\u5f37\u3044\u7279\u5fb4\u304c\u3042\u308b\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u305f\u3060\u3057\u3001\u3053\u308c\u307e\u3067\u306e\u75c7\u4f8b\u5831\u544a\u3067\u306f\u5171\u901a\u3057\u3084\u3059\u3044\u50be\u5411\u304c\u6574\u7406\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u6210\u9577\u3068\u3068\u3082\u306b\u5909\u5316\u3057\u3001\u305d\u306e\u5b50\u3089\u3057\u3044\u500b\u6027\u306b\u99b4\u67d3\u3093\u3067\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u982d\u90e8\u306e\u7279\u5fb4: \u5927\u6cc9\u9580(\u982d\u84cb\u9aa8\u306e\u9699\u9593)\u304c\u5927\u304d\u3044\u3001\u982d\u84cb\u9aa8\u306e\u7e2b\u5408\u7dda\u306e\u9589\u3058\u304c\u9045\u308c\u308b\u3001\u304a\u3067\u3053\u304c\u5e83\u304f\u524d\u306b\u51fa\u3066\u3044\u308b\u3001\u3068\u3044\u3063\u305f\u6240\u898b\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u304a\u9854\u306e\u7279\u5fb4: \u773c\u9593\u304c\u5e83\u3044(\u4e21\u76ee\u306e\u9593\u9694\u304c\u5e83\u3044)\u3001\u9f3b\u7b4b\u304c\u5e73\u5766\u3067\u5e83\u3044\u3001\u8033\u306e\u4f4d\u7f6e\u304c\u4f4e\u3044\u30fb\u5f62\u304c\u7279\u5fb4\u7684\u3001\u4e0a\u5507\u304c\u8584\u3044\u3001\u3042\u3054\u304c\u5c0f\u3055\u3044\u3001\u3068\u3044\u3063\u305f\u6240\u898b\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u9996\u30fb\u4f53\u5e79: \u9996\u304c\u77ed\u3081\u3067\u3042\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u307e\u308c\u306b\u80f8\u90ed\u304c\u72ed\u3044\u3001\u809b\u9580\u306e\u4f4d\u7f6e\u306b\u7570\u5e38\u304c\u3042\u308b\u3068\u3044\u3063\u305f\u5831\u544a\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u307b\u304b\u306b\u3082\u3001\u3044\u304f\u3064\u304b\u306e\u5831\u544a\u304c\u3042\u308a\u307e\u3059\u3002\u773c\u79d1\u9762\u3067\u306f\u659c\u8996\u304c\u534a\u6570\u7a0b\u5ea6\u3001\u8074\u529b\u9762\u3067\u306f\u96e3\u8074\u304c4\u4eba\u306b1\u4eba\u7a0b\u5ea6\u3067\u3059\u3002\u6b6f\u306e\u751f\u3048\u65b9\u3084\u565b\u307f\u5408\u308f\u305b\u306e\u7570\u5e38\u304c4\u5272\u7a0b\u5ea6\u3001\u810a\u67f1\u5074\u5f2f\u306a\u3069\u9aa8\u683c\u306e\u5909\u5316\u304c\u534a\u6570\u7a0b\u5ea6\u307f\u3089\u308c\u308b\u3068\u3059\u308b\u5831\u544a\u3082\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u3089\u306f\u5b9a\u671f\u7684\u306a\u5065\u8a3a\u3067\u65e9\u3081\u306b\u898b\u3064\u3051\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u5c02\u9580\u79d1\u3068\u9023\u643a\u3059\u308b\u3053\u3068\u304c\u529b\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%AD%8B%E7%B7%8A%E5%BC%B5%E4%BD%8E%E4%B8%8B%E3%83%8F%E3%82%A4%E3%83%9D%E3%83%88%E3%83%8B%E3%82%A2\"><\/span><strong>\u7b4b\u7dca\u5f35\u4f4e\u4e0b(\u30cf\u30a4\u30dd\u30c8\u30cb\u30a2)<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u4e73\u5e7c\u5150\u671f\u306b\u3088\u304f\u307f\u3089\u308c\u308b\u75c7\u72b6\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u4f53\u304c\u67d4\u3089\u304b\u3044: \u62b1\u3063\u3053\u3057\u305f\u6642\u306b\u3075\u306b\u3083\u3063\u3068\u3057\u3066\u3044\u308b\u72b6\u614b(\u30d5\u30ed\u30c3\u30d4\u30fc\u30a4\u30f3\u30d5\u30a1\u30f3\u30c8)\u3067\u3001\u904b\u52d5\u767a\u9054\u306e\u9045\u308c\u306b\u3064\u306a\u304c\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u54fa\u4e73\u969c\u5bb3: \u304a\u3063\u3071\u3044\u3092\u5438\u3046\u529b\u304c\u5f31\u304f\u3001\u6388\u4e73\u306b\u6642\u9593\u304c\u304b\u304b\u3063\u305f\u308a\u3001\u3080\u305b\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u5831\u544a\u3067\u306f6\u5272\u8d85\u306e\u65b9\u306b\u307f\u3089\u308c\u308b\u3068\u3055\u308c\u3001\u6bd4\u8f03\u7684\u983b\u5ea6\u306e\u9ad8\u3044\u75c7\u72b6\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%9D%E3%81%AE%E4%BB%96%E3%81%AE%E5%90%88%E4%BD%B5%E7%97%87\"><\/span><strong>\u305d\u306e\u4ed6\u306e\u5408\u4f75\u75c7<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3059\u3079\u3066\u306e\u65b9\u306b\u3042\u308b\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u75c7\u72b6\u304c\u307f\u3089\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5fc3\u75be\u60a3: \u751f\u307e\u308c\u3064\u304d\u5fc3\u81d3\u306b\u7a74\u304c\u958b\u3044\u3066\u3044\u308b(\u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d\u75c7\u306a\u3069)\u5834\u5408\u304c2\u5272\u7a0b\u5ea6\u306b\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3051\u3044\u308c\u3093\u30fb\u3066\u3093\u304b\u3093: 2\u5272\u5f31\u306e\u65b9\u306b\u5831\u544a\u304c\u3042\u308a\u307e\u3059\u3002\u767a\u4f5c\u306e\u578b\u306b\u5fdc\u3058\u3066\u6297\u3066\u3093\u304b\u3093\u85ac\u3067\u7ba1\u7406\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u884c\u52d5\u9762: <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7<\/a>\u306e\u7279\u6027\u3084\u3001\u3053\u3060\u308f\u308a\u30fb\u591a\u52d5\u50be\u5411\u304c\u307f\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059(3\u5272\u7a0b\u5ea6)\u3002<\/li>\n\n\n\n<li>\u814e\u81d3\u30fb\u305d\u306e\u4ed6: \u814e\u81d3\u306e\u5f62\u3084\u4f4d\u7f6e\u306e\u7570\u5e38\u304c\u307f\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u3054\u304f\u4e00\u90e8\u3067\u30a6\u30a3\u30eb\u30e0\u30b9\u816b\u760d(\u5c0f\u5150\u306e\u814e\u816b\u760d)\u306e\u5831\u544a\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u660e\u78ba\u306a\u767a\u75c7\u30ea\u30b9\u30af\u306e\u4e0a\u6607\u306f\u78ba\u8a8d\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002\u6c17\u306b\u306a\u308b\u5834\u5408\u306f\u4e3b\u6cbb\u533b\u3068\u5b9a\u671f\u5065\u8a3a\u306e\u65b9\u91dd\u3092\u76f8\u8ac7\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/li>\n<\/ul>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"428\" src=\"\/nipt\/wp-content\/uploads\/2026\/01\/4179475_s.webp\" alt=\"\u8d64\u3061\u3083\u3093\u306e\u624b\u3092\u512a\u3057\u304f\u5305\u3080\u89aa\u306e\u624b\u300216q22\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u304a\u5b50\u69d8\u3068\u5bb6\u65cf\u306e\u30a4\u30e1\u30fc\u30b8\" class=\"wp-image-121550\"\/><\/figure><\/div>\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%8E%9F%E5%9B%A0%EF%BD%9CCTCF%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%A8de_novo%E5%A4%89%E7%95%B0\"><\/span>\u539f\u56e0\uff5cCTCF\u907a\u4f1d\u5b50\u3068de novo\u5909\u7570<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>16q22\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u5927\u534a\u306f\u3001de novo(\u7a81\u7136)\u5909\u7570\u306b\u3088\u3063\u3066\u8d77\u3053\u308a\u307e\u3059\u3002<\/strong>\u3054\u4e21\u89aa\u306e\u80b2\u3066\u65b9\u3084\u598a\u5a20\u4e2d\u306e\u751f\u6d3b\u304c\u539f\u56e0\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u3053\u3053\u3067\u306f\u539f\u56e0\u306e\u4ed5\u7d44\u307f\u3068\u3001CTCF\u907a\u4f1d\u5b50\u306e\u5f79\u5272\u3092\u6574\u7406\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%AA%81%E7%84%B6%E5%A4%89%E7%95%B0de_novo%E5%A4%89%E7%95%B0%E3%81%8C%E5%A4%A7%E5%8D%8A%E3%82%92%E5%8D%A0%E3%82%81%E3%82%8B\"><\/span><strong>\u7a81\u7136\u5909\u7570(de novo\u5909\u7570)\u304c\u5927\u534a\u3092\u5360\u3081\u308b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>CTCF\u907a\u4f1d\u5b50\u306e\u5909\u5316(\u70b9\u5909\u7570\u3068\u6b20\u5931\u3092\u3042\u308f\u305b\u305f\u3082\u306e)\u306b\u95a2\u3059\u308bGeneReviews\u306e\u56fd\u969b\u7684\u306a\u5831\u544a\u304c\u3042\u308a\u307e\u3059\u3002\u304a\u3088\u305d8\u5272\u304c\u65b0\u751f\u7a81\u7136\u5909\u7570(de novo)\u306b\u3088\u308b\u3082\u306e\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u7cbe\u5b50\u3084\u5375\u5b50\u304c\u4f5c\u3089\u308c\u308b\u904e\u7a0b\u3001\u3042\u308b\u3044\u306f\u53d7\u7cbe\u5f8c\u306e\u7d30\u80de\u5206\u88c2\u306e\u3054\u304f\u65e9\u3044\u6bb5\u968e\u3067\u3001\u5076\u7136\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u30b3\u30d4\u30fc\u3055\u308c\u305a\u306b\u5931\u308f\u308c\u305f\u3082\u306e\u3002\u8ab0\u306b\u3067\u3082\u8d77\u3053\u308a\u3046\u308b\u51fa\u6765\u4e8b\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u598a\u5a20\u4e2d\u306e\u98df\u3079\u7269\u3001\u85ac\u3001\u30b9\u30c8\u30ec\u30b9\u3001\u4ed5\u4e8b\u3001\u751f\u6d3b\u74b0\u5883\u306f\u4e00\u5207\u95a2\u4fc2\u3042\u308a\u307e\u305b\u3093\u3002\u8ab0\u306b\u3067\u3082\u8d77\u3053\u308a\u3046\u308b\u78ba\u7387\u7684\u306a\u73fe\u8c61\u3067\u3042\u308a\u3001\u73fe\u4ee3\u306e\u533b\u5b66\u3067\u9632\u3050\u3053\u3068\u306f\u3067\u304d\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%A6%AA%E3%81%AE%E6%9F%93%E8%89%B2%E4%BD%93%E8%BB%A2%E5%BA%A7%E3%81%AB%E3%82%88%E3%82%8B%E3%82%B1%E3%83%BC%E3%82%B9%E3%81%BE%E3%82%8C\"><\/span><strong>\u89aa\u306e\u67d3\u8272\u4f53\u8ee2\u5ea7\u306b\u3088\u308b\u30b1\u30fc\u30b9(\u307e\u308c)<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6b8b\u308a\u306e\u4e00\u90e8\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>\u5747\u8861\u578b\u8ee2\u5ea7: \u67d3\u8272\u4f53\u306e\u5834\u6240\u304c\u5165\u308c\u66ff\u308f\u3063\u3066\u3044\u308b\u3060\u3051\u3067\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>\u304a\u5b50\u69d8\u306b\u67d3\u8272\u4f53\u3092\u53d7\u3051\u6e21\u3059\u969b\u306b\u30d0\u30e9\u30f3\u30b9\u304c\u5d29\u308c\u3001\u300c\u4e0d\u5747\u8861(\u6b20\u5931)\u300d\u304c\u751f\u3058\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u6b21\u306e\u304a\u5b50\u69d8\u3092\u8003\u3048\u3066\u3044\u308b\u5834\u5408\u306f\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u78ba\u8a8d\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u79c1\u306f\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u5834\u3067\u3001\u300c\u81ea\u5206\u306e\u598a\u5a20\u4e2d\u306e\u4f55\u304b\u304c\u60aa\u304b\u3063\u305f\u306e\u3067\u306f\u300d\u3068\u81ea\u5206\u3092\u8cac\u3081\u3066\u3057\u307e\u3046\u3054\u4e21\u89aa\u306b\u4f55\u5ea6\u3082\u51fa\u4f1a\u3063\u3066\u304d\u307e\u3057\u305f\u3002\u3057\u304b\u3057\u5747\u8861\u578b\u8ee2\u5ea7\u306f\u89aa\u5fa1\u3055\u3093\u81ea\u8eab\u306b\u306f\u75c7\u72b6\u304c\u51fa\u306a\u3044\u6027\u8cea\u306e\u3082\u306e\u3067\u3001\u8ab0\u306e\u8cac\u4efb\u3067\u3082\u3042\u308a\u307e\u305b\u3093\u3002\u5fc3\u5f53\u305f\u308a\u304c\u306a\u304f\u3066\u3082\u3001\u6b21\u306e\u304a\u5b50\u69d8\u3092\u8003\u3048\u308b\u969b\u306f\u67d3\u8272\u4f53\u691c\u67fb\u3067\u78ba\u8a8d\u3067\u304d\u308b\u3053\u3068\u3092\u77e5\u3063\u3066\u304a\u3044\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%87%8D%E8%A6%81%E9%81%BA%E4%BC%9D%E5%AD%90CTCF%E3%81%AE%E5%BD%B9%E5%89%B2\"><\/span><strong>\u91cd\u8981\u907a\u4f1d\u5b50CTCF\u306e\u5f79\u5272<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>16q22.1\u9818\u57df\u306b\u542b\u307e\u308c\u308bCTCF\u306f\u3001DNA\u304c\u7acb\u4f53\u7684\u306b\u6298\u308a\u305f\u305f\u307e\u308c\u308b\u69cb\u9020\u3092\u8abf\u7bc0\u3059\u308b\u907a\u4f1d\u5b50\u3067\u3059\u3002\u591a\u304f\u306e\u907a\u4f1d\u5b50\u306e\u30b9\u30a4\u30c3\u30c1\u3092\u5165\u308c\u305f\u308a\u5207\u3063\u305f\u308a\u3059\u308b\u3001\u300c\u30de\u30b9\u30bf\u30fc\u30ec\u30ae\u30e5\u30ec\u30fc\u30bf\u30fc\u300d\u306e\u3088\u3046\u306a\u50cd\u304d\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u907a\u4f1d\u5b50\u304c\u7247\u65b9\u306e\u67d3\u8272\u4f53\u5206\u3057\u304b\u50cd\u304b\u306a\u304f\u306a\u308b\u3053\u3068\u3001\u3053\u308c\u304c\u30cf\u30d7\u30ed\u4e0d\u5168\u3067\u3059\u3002\u8133\u306e\u767a\u9054\u3084\u4f53\u306e\u6210\u9577\u306e\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u304c\u3046\u307e\u304f\u3044\u304b\u306a\u304f\u306a\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u6b20\u5931\u306e\u7bc4\u56f2\u306bCTCF\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u308b\u304b\u3069\u3046\u304b\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u67d3\u8272\u4f53\u691c\u67fb\u306e\u7d50\u679c\u3067\u78ba\u8a8d\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\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%EF%BD%9C%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%E3%81%A7%E7%A2%BA%E5%AE%9A%E3%81%99%E3%82%8B\"><\/span>\u8a3a\u65ad\u3068\u691c\u67fb\uff5c\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\u3067\u78ba\u5b9a\u3059\u308b<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>16q22\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u8a3a\u65ad\u306f\u3001\u67d3\u8272\u4f53<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u691c\u67fb\u3068\u3044\u3046\u3001DNA\u30ec\u30d9\u30eb\u3067\u67d3\u8272\u4f53\u306e\u5897\u6e1b\u3092\u8abf\u3079\u308b\u691c\u67fb\u3067\u78ba\u5b9a\u3057\u307e\u3059\u3002<\/strong>\u901a\u5e38\u3001\u51fa\u751f\u6642\u306e\u5c0f\u3055\u3055(SGA\u5150)\u3084\u767a\u9054\u306e\u9045\u308c\u3001\u7279\u5fb4\u7684\u306a\u9854\u7acb\u3061\u304b\u3089\u533b\u5e2b\u304c\u7591\u3044\u3092\u6301\u3061\u3001\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u3092\u884c\u3046\u3053\u3068\u3067\u78ba\u5b9a\u8a3a\u65ad\u306b\u81f3\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<figure class=\"wp-block-image aligncenter\" style=\"margin:1.5rem auto;\">\n<svg role=\"img\" aria-label=\"\u975e\u78ba\u5b9a\u7684\u691c\u67fb\u3067\u53ef\u80fd\u6027\u3092\u8abf\u3079\u3001\u78ba\u5b9a\u691c\u67fb\u3067\u8a3a\u65ad\u3092\u78ba\u5b9a\u3059\u308b\u6d41\u308c\u3092\u793a\u3057\u305f\u56f3\" viewBox=\"0 0 720 250\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" style=\"max-width:720px;width:100%;height:auto;font-family:sans-serif;\">\n  <rect x=\"0\" y=\"0\" width=\"720\" height=\"250\" fill=\"#fff9fb\"\/>\n  <text x=\"360\" y=\"38\" text-anchor=\"middle\" font-size=\"20\" fill=\"#5a2b3a\">\u691c\u67fb\u306e\u8003\u3048\u65b9\u306e\u6d41\u308c<\/text>\n  <rect x=\"40\" y=\"70\" width=\"280\" height=\"120\" rx=\"12\" fill=\"#fbe1eb\"\/>\n  <text x=\"180\" y=\"105\" text-anchor=\"middle\" font-size=\"16\" fill=\"#5a2b3a\">\u975e\u78ba\u5b9a\u7684\u306a\u691c\u67fb<\/text>\n  <text x=\"180\" y=\"135\" text-anchor=\"middle\" font-size=\"14\" fill=\"#5a2b3a\">NIPT\u306f\u57fa\u672c\u5bfe\u8c61\u5916<\/text>\n  <text x=\"180\" y=\"160\" text-anchor=\"middle\" font-size=\"14\" fill=\"#5a2b3a\">\u3053\u308c\u3060\u3051\u3067\u306f\u78ba\u5b9a\u3057\u306a\u3044<\/text>\n  <text x=\"360\" y=\"135\" text-anchor=\"middle\" font-size=\"26\" fill=\"#e8608a\">\u2192<\/text>\n  <rect x=\"400\" y=\"70\" width=\"280\" height=\"120\" rx=\"12\" fill=\"#f6b8cd\"\/>\n  <text x=\"540\" y=\"105\" text-anchor=\"middle\" font-size=\"16\" fill=\"#5a2b3a\">\u78ba\u5b9a\u691c\u67fb<\/text>\n  <text x=\"540\" y=\"135\" text-anchor=\"middle\" font-size=\"14\" fill=\"#5a2b3a\"><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chorionic-villus-test\/\">\u7d68\u6bdb\u691c\u67fb<\/a><\/text>\n  <text x=\"540\" y=\"160\" text-anchor=\"middle\" font-size=\"14\" fill=\"#5a2b3a\">\uff0b\u67d3\u8272\u4f53<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a><\/text>\n<\/svg>\n<figcaption>\u53ef\u80fd\u6027\u3092\u8abf\u3079\u308b\u691c\u67fb\u3068\u3001\u8a3a\u65ad\u3092\u78ba\u5b9a\u3059\u308b\u691c\u67fb\u306e\u95a2\u4fc2\u306e\u30a4\u30e1\u30fc\u30b8<\/figcaption>\n<\/figure>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%87%BA%E7%94%9F%E5%89%8D%E6%A4%9C%E6%9F%BB%E3%81%A7%E3%81%AE%E4%BD%8D%E7%BD%AE%E3%81%A5%E3%81%91NIPT%E3%81%A8%E3%81%AE%E9%96%A2%E4%BF%82\"><\/span><strong>\u51fa\u751f\u524d\u691c\u67fb\u3067\u306e\u4f4d\u7f6e\u3065\u3051(NIPT\u3068\u306e\u95a2\u4fc2)<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>(\u65b0\u578b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>)\u306f\u3001\u4e3b\u306b13\u30fb18\u30fb21\u30c8\u30ea\u30bd\u30df\u30fc\u306a\u3069\u306e\u67d3\u8272\u4f53\u306e\u6570\u306e\u5909\u5316\u3092\u8abf\u3079\u308b\u975e\u78ba\u5b9a\u7684\u691c\u67fb\u3067\u3059\u3002<strong>16q22\u306e\u3088\u3046\u306a<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u306f\u3001\u57fa\u672c\u7684\u306aNIPT\u306e\u5bfe\u8c61\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/strong>\u4e00\u90e8\u65bd\u8a2d\u3067\u306f\u62e1\u5927\u691c\u67fb\u306e\u30aa\u30d7\u30b7\u30e7\u30f3\u9805\u76ee\u3068\u3057\u3066\u6271\u308f\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u5bfe\u8c61\u3068\u306a\u308b\u7bc4\u56f2\u306f\u9650\u3089\u308c\u3001\u691c\u51fa\u7387\u306b\u3082\u5e45\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u79c1\u306f\u8a3a\u7642\u306e\u4e2d\u3067\u3001\u300c\u30aa\u30d7\u30b7\u30e7\u30f3\u691c\u67fb\u3067<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u306e\u53ef\u80fd\u6027\u3092\u6307\u6458\u3055\u308c\u305f\u304c\u3001\u3053\u308c\u3067\u78ba\u5b9a\u306a\u306e\u304b\u300d\u3068\u4e0d\u5b89\u306a\u69d8\u5b50\u3067\u3044\u3089\u3063\u3057\u3083\u308b\u65b9\u306b\u5ea6\u3005\u304a\u4f1a\u3044\u3057\u307e\u3059\u3002\u30aa\u30d7\u30b7\u30e7\u30f3\u691c\u67fb\u3067\u300c\u53ef\u80fd\u6027\u304c\u9ad8\u3044\u300d\u3068\u793a\u3055\u308c\u305f\u5834\u5408\u3067\u3082\u3001\u305d\u308c\u3060\u3051\u3067\u8a3a\u65ad\u304c\u78ba\u5b9a\u3059\u308b\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002NIPT\u3067\u8abf\u3079\u3089\u308c\u308b\u9805\u76ee\u306e\u5168\u4f53\u50cf\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-detectable-conditions\/\">NIPT\u3067\u308f\u304b\u308b\u75be\u60a3\u3092\u6574\u7406\u3057\u305f\u8a18\u4e8b<\/a>\u3067\u78ba\u8a8d\u3067\u304d\u307e\u3059\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u75c7\u5019\u7fa4\u5168\u4f53\u306e\u4f4d\u7f6e\u3065\u3051\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-microdeletion-risks\/\">\u5fae\u5c0f\u6b20\u5931\u75c7\u5019\u7fa4\u3068NIPT\u306e\u95a2\u4fc2\u3092\u89e3\u8aac\u3057\u305f\u8a18\u4e8b<\/a>\u306b\u307e\u3068\u3081\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%A2%BA%E5%AE%9A%E8%A8%BA%E6%96%AD%E3%81%AF%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%E3%81%A7\"><\/span><strong>\u78ba\u5b9a\u8a3a\u65ad\u306f\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\u3067<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5f93\u6765\u306e\u9855\u5fae\u93e1\u306b\u3088\u308b\u67d3\u8272\u4f53\u691c\u67fb(G\u5206\u67d3\u6cd5)\u3067\u306f\u3001\u5c0f\u3055\u306a\u6b20\u5931\u306f\u898b\u9003\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3057\u305f\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u691c\u67fb\u306fDNA\u30ec\u30d9\u30eb\u3067\u67d3\u8272\u4f53\u306e\u91cf\u3092\u8abf\u3079\u308b\u305f\u3081\u3001\u300c16\u756a\u67d3\u8272\u4f53q22\u30d0\u30f3\u30c9\u306e\u3069\u3053\u304b\u3089\u3069\u3053\u307e\u3067\u304c\u6b20\u3051\u3066\u3044\u308b\u304b\u300d\u3092\u6b63\u78ba\u306b\u8a3a\u65ad\u3067\u304d\u307e\u3059\u3002CTCF\u907a\u4f1d\u5b50\u304c\u6b20\u5931\u7bc4\u56f2\u306b\u542b\u307e\u308c\u3066\u3044\u308b\u304b\u3069\u3046\u304b\u3082\u3001\u3053\u306e\u691c\u67fb\u3067\u78ba\u8a8d\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u51fa\u751f\u524d\u3067\u3042\u308c\u3070<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniotic-fluid-test-about\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chorionic-villus-test\/\">\u7d68\u6bdb\u691c\u67fb<\/a>\u3067\u63a1\u53d6\u3057\u305f\u7d30\u80de\u3092\u3001\u51fa\u751f\u5f8c\u3067\u3042\u308c\u3070\u304a\u5b50\u69d8\u306e\u8840\u6db2\u3092\u7528\u3044\u3066\u691c\u67fb\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%90%88%E4%BD%B5%E7%97%87%E3%82%92%E8%AA%BF%E3%81%B9%E3%82%8B%E7%94%BB%E5%83%8F%E6%A4%9C%E6%9F%BB%E3%83%BB%E6%A9%9F%E8%83%BD%E6%A4%9C%E6%9F%BB\"><\/span><strong>\u5408\u4f75\u75c7\u3092\u8abf\u3079\u308b\u753b\u50cf\u691c\u67fb\u30fb\u6a5f\u80fd\u691c\u67fb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5408\u4f75\u75c7\u306e\u6709\u7121\u3092\u78ba\u8a8d\u3059\u308b\u305f\u3081\u306b\u3001\u4ee5\u4e0b\u306e\u691c\u67fb\u304c\u884c\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u982d\u90e8MRI: \u8133\u306e\u69cb\u9020\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002\u8133\u6881\u304c\u8584\u3044\u306a\u3069\u306e\u6240\u898b\u304c\u307f\u3064\u304b\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5fc3\u81d3\u8d85\u97f3\u6ce2(\u30a8\u30b3\u30fc)\u691c\u67fb: \u5fc3\u75be\u60a3\u306e\u6709\u7121\u3092\u8abf\u3079\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8179\u90e8\u30a8\u30b3\u30fc: \u814e\u81d3\u306a\u3069\u5185\u81d3\u306e\u5f62\u3084\u4f4d\u7f6e\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u56a5\u4e0b\u6a5f\u80fd\u691c\u67fb: \u30df\u30eb\u30af\u306e\u98f2\u307f\u304c\u60aa\u3044\u3001\u3080\u305b\u3084\u3059\u3044\u3068\u3044\u3063\u305f\u5834\u5408\u3001\u8aa4\u56a5\u3057\u3066\u3044\u306a\u3044\u304b\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<figure class=\"wp-block-table\"><table><thead><tr><th>\u691c\u67fb<\/th><th>\u4f4d\u7f6e\u3065\u3051<\/th><th>16q22\u6b20\u5931\u3078\u306e\u5bfe\u5fdc<\/th><th>\u4f53\u3078\u306e\u8ca0\u62c5<\/th><\/tr><\/thead><tbody><tr><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>(\u65b0\u578b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>)<\/td><td>\u975e\u78ba\u5b9a\u7684\u691c\u67fb<\/td><td>\u57fa\u672c\u5bfe\u8c61\u5916\u3002\u4e00\u90e8\u65bd\u8a2d\u306e\u62e1\u5927\u691c\u67fb\u30aa\u30d7\u30b7\u30e7\u30f3\u3067\u5bfe\u8c61\u30fb\u691c\u51fa\u7387\u306b\u5e45<\/td><td>\u63a1\u8840\u306e\u307f<\/td><\/tr><tr><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\uff0b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a><\/td><td>\u78ba\u5b9a\u7684\u691c\u67fb<\/td><td>\u8a73\u3057\u3044\u6b20\u5931\u7bc4\u56f2\u307e\u3067\u78ba\u5b9a\u3067\u304d\u308b<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/abortion\/\">\u6d41\u7523<\/a>\u30ea\u30b9\u30af\u7d040.3%\u524d\u5f8c<\/td><\/tr><tr><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chorionic-villus-test\/\">\u7d68\u6bdb\u691c\u67fb<\/a>\uff0b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a><\/td><td>\u78ba\u5b9a\u7684\u691c\u67fb<\/td><td>\u598a\u5a20\u65e9\u671f\u306b\u78ba\u5b9a\u3067\u304d\u308b<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/abortion\/\">\u6d41\u7523<\/a>\u30ea\u30b9\u30af\u7d041%\u524d\u5f8c<\/td><\/tr><tr><td>\u51fa\u751f\u5f8c\u306e\u8840\u6db2\u691c\u67fb\uff0b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a><\/td><td>\u78ba\u5b9a\u7684\u691c\u67fb<\/td><td>\u751f\u307e\u308c\u305f\u5f8c\u306b\u78ba\u5b9a\u3067\u304d\u308b<\/td><td>\u63a1\u8840\u306e\u307f<\/td><\/tr><\/tbody><\/table><figcaption>16q22\u6b20\u5931\u75c7\u5019\u7fa4\u306b\u95a2\u308f\u308b\u691c\u67fb\u306e\u6bd4\u8f03(\u4f4d\u7f6e\u3065\u3051\u3068\u8ca0\u62c5\u306e\u6574\u7406)<\/figcaption><\/figure>\n\n\n\n<div style=\"text-align:center;margin:2em 0;\"><a href=\"https:\/\/mypage-nipt-reservation.hiro-clinic.or.jp\/registration\" target=\"_blank\" rel=\"noopener\" style=\"display:inline-block;padding:0.8em 2em;background:#e8608a;color:#fff;border-radius:30px;text-decoration:none;font-weight:bold;\">\u6b21\u306e\u598a\u5a20\u306b\u5411\u3051\u305fNIPT\u306e\u3054\u76f8\u8ac7\u306f\u3053\u3061\u3089<\/a><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%B2%BB%E7%99%82%E3%81%A8%E7%AE%A1%E7%90%86%EF%BD%9C%E4%BB%8A%E6%97%A5%E3%81%8B%E3%82%89%E5%A7%8B%E3%82%81%E3%82%89%E3%82%8C%E3%82%8B%E3%83%AD%E3%83%BC%E3%83%89%E3%83%9E%E3%83%83%E3%83%97\"><\/span>\u6cbb\u7642\u3068\u7ba1\u7406\uff5c\u4eca\u65e5\u304b\u3089\u59cb\u3081\u3089\u308c\u308b\u30ed\u30fc\u30c9\u30de\u30c3\u30d7<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u5931\u308f\u308c\u305f\u67d3\u8272\u4f53\u3092\u5143\u306b\u623b\u3059\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u3001\u73fe\u4ee3\u306e\u533b\u7642\u3067\u306f\u307e\u3060\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002<\/strong>\u3057\u304b\u3057\u3001\u305d\u308c\u305e\u308c\u306e\u75c7\u72b6\u306b\u5bfe\u3059\u308b\u5bfe\u75c7\u7642\u6cd5\u3068\u65e9\u671f\u304b\u3089\u306e\u7642\u80b2\u3092\u7d44\u307f\u5408\u308f\u305b\u308b\u3053\u3068\u3067\u3001\u304a\u5b50\u69d8\u306e\u751f\u6d3b\u306e\u8cea\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=\"%E6%97%A9%E6%9C%9F%E7%99%82%E8%82%B2%E3%83%8F%E3%83%93%E3%83%AA%E3%83%86%E3%83%BC%E3%82%B7%E3%83%A7%E3%83%B3\"><\/span><strong>\u65e9\u671f\u7642\u80b2(\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3)<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8133\u3084\u4f53\u306e\u767a\u9054\u304c\u8457\u3057\u3044\u4e73\u5e7c\u5150\u671f\u304b\u3089\u306e\u95a2\u308f\u308a\u304c\u529b\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u7406\u5b66\u7642\u6cd5(PT):<br>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u306b\u5bfe\u3057\u3066\u30a2\u30d7\u30ed\u30fc\u30c1\u3057\u3001\u304a\u5ea7\u308a\u3084\u6b69\u884c\u306b\u5fc5\u8981\u306a\u7b4b\u8089\u3084\u30d0\u30e9\u30f3\u30b9\u611f\u899a\u3092\u80b2\u3066\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u4f5c\u696d\u7642\u6cd5(OT):<br>\u624b\u5148\u306e\u4e0d\u5668\u7528\u3055\u3092\u6539\u5584\u3057\u3001\u304a\u3082\u3061\u3083\u3067\u904a\u3076\u3001\u30b9\u30d7\u30fc\u30f3\u3092\u6301\u3064\u306a\u3069\u306e\u52d5\u4f5c\u3092\u7df4\u7fd2\u3057\u307e\u3059\u3002\u611f\u899a\u7d71\u5408\u904a\u3073\u3082\u53d6\u308a\u5165\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8a00\u8a9e\u8074\u899a\u7642\u6cd5(ST):<br>\u8a00\u8449\u306e\u7406\u89e3\u3084\u8868\u51fa\u3092\u4fc3\u3057\u307e\u3059\u3002\u7d75\u30ab\u30fc\u30c9\u3084\u30b5\u30a4\u30f3\u306a\u3069\u4ee3\u66ff\u624b\u6bb5\u3067\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u306e\u571f\u53f0\u3092\u4f5c\u308a\u3001\u6442\u98df\u56a5\u4e0b\u306e\u8a13\u7df4\u3082\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%A0%84%E9%A4%8A%E3%81%A8%E9%A3%9F%E4%BA%8B%E3%81%AE%E7%AE%A1%E7%90%86\"><\/span><strong>\u6804\u990a\u3068\u98df\u4e8b\u306e\u7ba1\u7406<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u300c\u4f53\u91cd\u304c\u5897\u3048\u306a\u3044\u300d\u3053\u3068\u306f\u3001\u89aa\u5fa1\u3055\u3093\u306b\u3068\u3063\u3066\u5927\u304d\u306a\u30b9\u30c8\u30ec\u30b9\u306b\u306a\u308a\u304c\u3061\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u9ad8\u30ab\u30ed\u30ea\u30fc\u98df: \u533b\u5e2b\u3084\u6804\u990a\u58eb\u3068\u76f8\u8ac7\u3057\u3001\u30ab\u30ed\u30ea\u30fc\u306e\u9ad8\u3044\u30df\u30eb\u30af\u3084\u6804\u990a\u5264(\u30a8\u30f3\u30b7\u30e5\u30a2\u3084\u30e9\u30b3\u30fc\u30eb\u306a\u3069)\u3092\u4f7f\u7528\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u7d4c\u7ba1\u6804\u990a: \u53e3\u304b\u3089\u5341\u5206\u306b\u98df\u3079\u3089\u308c\u306a\u3044\u5834\u5408\u3001\u4e00\u6642\u7684\u306b\u9f3b\u304b\u3089\u306e\u30c1\u30e5\u30fc\u30d6\u3092\u4f7f\u3063\u3066\u4f53\u529b\u3092\u3064\u3051\u308b\u3053\u3068\u3082\u3001\u8133\u306e\u6210\u9577\u306e\u305f\u3081\u306b\u306f\u5927\u5207\u306a\u9078\u629e\u80a2\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%90%88%E4%BD%B5%E7%97%87%E3%81%AE%E7%AE%A1%E7%90%86%E3%81%A8%E5%AE%9A%E6%9C%9F%E6%A4%9C%E8%A8%BA\"><\/span><strong>\u5408\u4f75\u75c7\u306e\u7ba1\u7406\u3068\u5b9a\u671f\u691c\u8a3a<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5fc3\u81d3\u3084\u814e\u81d3\u3001\u8133\u6ce2\u306a\u3069\u306e\u5408\u4f75\u75c7\u306f\u3001\u75c7\u72b6\u304c\u51fa\u3066\u304b\u3089\u5bfe\u5fdc\u3059\u308b\u3088\u308a\u3001\u5b9a\u671f\u691c\u8a3a\u3067\u65e9\u3081\u306b\u898b\u3064\u3051\u3066\u5bfe\u5fdc\u3059\u308b\u65b9\u304c\u8ca0\u62c5\u304c\u5c11\u306a\u304f\u6e08\u307f\u307e\u3059\u3002\u4e3b\u306a\u7ba1\u7406\u9805\u76ee\u306f\u6b21\u306e\u3068\u304a\u308a\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5fc3\u75be\u60a3: \u624b\u8853\u304c\u5fc5\u8981\u306a\u5834\u5408\u306f\u3001\u9069\u5207\u306a\u6642\u671f\u306b\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5b9a\u671f\u691c\u8a3a: \u8eab\u9577\u30fb\u4f53\u91cd\u3001\u8996\u529b\u30fb\u8074\u529b\u3092\u5b9a\u671f\u7684\u306b\u30c1\u30a7\u30c3\u30af\u3057\u3001\u5909\u5316\u304c\u3042\u308c\u3070\u65e9\u3081\u306b\u5bfe\u5fdc\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3066\u3093\u304b\u3093: \u767a\u4f5c\u304c\u3042\u308b\u5834\u5408\u306f\u8133\u6ce2\u691c\u67fb\u3092\u884c\u3044\u3001\u304a\u85ac\u3067\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u814e\u81d3\u306e\u7d4c\u904e\u89b3\u5bdf: \u8179\u90e8\u30a8\u30b3\u30fc\u3067\u814e\u81d3\u306e\u72b6\u614b\u3092\u5b9a\u671f\u7684\u306b\u78ba\u8a8d\u3057\u307e\u3059\u3002\u983b\u5ea6\u306f\u9ad8\u304f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u814e\u816b\u760d\u306e\u5831\u544a\u3082\u3042\u308b\u305f\u3081\u3001\u4e3b\u6cbb\u533b\u3068\u7d4c\u904e\u89b3\u5bdf\u306e\u9593\u9694\u3092\u76f8\u8ac7\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/li>\n<\/ul>\n\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>\u65e5\u3005\u306e\u751f\u6d3b\u3067\u306e\u5de5\u592b<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u300c\u98df\u3079\u308b\u300d\u300c\u7740\u308b\u300d\u300c\u6210\u9577\u3092\u6bd4\u3079\u308b\u300d\u306e3\u3064\u306e\u5834\u9762\u3067\u5de5\u592b\u3059\u308b\u3068\u3001\u65e5\u3005\u306e\u80b2\u5150\u306e\u8ca0\u62c5\u304c\u3050\u3063\u3068\u8efd\u304f\u306a\u308a\u307e\u3059\u3002<\/strong>16q22\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u304a\u5b50\u69d8\u3068\u306e\u751f\u6d3b\u3067\u3001\u5b9f\u969b\u306b\u5f79\u7acb\u3064\u30d2\u30f3\u30c8\u3092\u307e\u3068\u3081\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u300c\u98df\u3079\u308b\u300d\u3092\u697d\u3057\u3044\u6642\u9593\u306b:<br>\u306a\u304b\u306a\u304b\u98df\u3079\u3066\u304f\u308c\u306a\u3044\u3068\u3001\u98df\u4e8b\u306e\u6642\u9593\u305d\u306e\u3082\u306e\u304c\u82e6\u75db\u306b\u306a\u3063\u3066\u3057\u307e\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u300c\u4e00\u53e3\u98df\u3079\u305f\u3089OK\u300d\u300c\u30df\u30eb\u30af\u3067\u6804\u990a\u304c\u53d6\u308c\u3066\u3044\u308c\u3070\u5927\u4e08\u592b\u300d\u3068\u5272\u308a\u5207\u308a\u3001\u697d\u3057\u3044\u96f0\u56f2\u6c17\u3092\u5fc3\u304c\u3051\u3066\u304f\u3060\u3055\u3044\u3002\u7121\u7406\u5f37\u3044\u306f\u9006\u52b9\u679c\u306b\u306a\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u670d\u306e\u30b5\u30a4\u30ba\u9078\u3073:<br>\u4f53\u304c\u5c0f\u3055\u3081\u306a\u306e\u3067\u3001\u5b9f\u5e74\u9f62\u3088\u308a\u3082\u5c0f\u3055\u3044\u30b5\u30a4\u30ba\u306e\u670d\u304c\u9577\u304f\u7740\u3089\u308c\u307e\u3059\u3002\u30a6\u30a8\u30b9\u30c8\u30b4\u30e0\u3067\u8abf\u6574\u3067\u304d\u308b\u3082\u306e\u3001\u8131\u304e\u7740\u3057\u3084\u3059\u3044\u3082\u306e\u3092\u9078\u3073\u307e\u3057\u3087\u3046\u3002<\/li>\n\n\n\n<li>\u30b9\u30e2\u30fc\u30eb\u30b9\u30c6\u30c3\u30d7\u3067\u6bd4\u3079\u308b:<br>\u6bcd\u5b50\u624b\u5e33\u306e\u300c\u306f\u3044\u30fb\u3044\u3044\u3048\u300d\u306b\u3053\u3060\u308f\u3089\u305a\u3001\u305d\u306e\u5b50\u81ea\u8eab\u306e\u904e\u53bb\u3068\u73fe\u5728\u3092\u6bd4\u3079\u3066\u304f\u3060\u3055\u3044\u3002\u300c\u6628\u65e5\u3088\u308a\u9996\u304c\u3057\u3063\u304b\u308a\u3057\u3066\u304d\u305f\u300d\u300c\u76ee\u304c\u5408\u3063\u3066\u7b11\u3063\u305f\u300d\u3002\u305d\u306e\u5c0f\u3055\u306a\u5909\u5316\u3053\u305d\u304c\u3001\u78ba\u5b9f\u306a\u6210\u9577\u306e\u8a3c\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%AE%B6%E6%97%8F%E3%81%AE%E6%94%AF%E6%8F%B4%E3%81%A8%E7%9B%B8%E8%AB%87%E3%81%A7%E3%81%8D%E3%82%8B%E7%AA%93%E5%8F%A3\"><\/span>\u5bb6\u65cf\u306e\u652f\u63f4\u3068\u76f8\u8ac7\u3067\u304d\u308b\u7a93\u53e3<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u5e0c\u5c11\u75be\u60a3\u3060\u304b\u3089\u3053\u305d\u3001\u3054\u5bb6\u65cf\u304c\u5b64\u7acb\u3057\u306a\u3044\u3088\u3046\u3001\u516c\u7684\u306a\u76f8\u8ac7\u7a93\u53e3\u3084\u4fe1\u983c\u3067\u304d\u308b\u533b\u5b66\u60c5\u5831\u3092\u65e9\u3081\u306b\u77e5\u3063\u3066\u304a\u304f\u3053\u3068\u304c\u5fc3\u306e\u652f\u3048\u306b\u306a\u308a\u307e\u3059\u3002<\/strong>\u9577\u671f\u306e\u901a\u9662\u3084\u7642\u80b2\u306b\u306f\u6642\u9593\u3082\u6c17\u6301\u3061\u3082\u5fc5\u8981\u3067\u3059\u3002\u983c\u308c\u308b\u7a93\u53e3\u3092\u7d39\u4ecb\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5e0c\u5c11\u75be\u60a3\u3086\u3048\u306b\u3001\u8fd1\u6240\u306b\u540c\u3058\u75c5\u6c17\u306e\u304a\u5b50\u3055\u3093\u3092\u898b\u3064\u3051\u308b\u306e\u306f\u96e3\u3057\u3044\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002\u3057\u304b\u3057\u3001\u75c5\u540d\u306f\u9055\u3063\u3066\u3082\u4f3c\u305f\u3088\u3046\u306a\u60a9\u307f(\u6210\u9577\u969c\u5bb3\u3084\u767a\u9054\u306e\u9045\u308c)\u3092\u6301\u3064\u3054\u5bb6\u65cf\u3068\u3064\u306a\u304c\u308b\u3053\u3068\u306f\u3067\u304d\u307e\u3059\u3002\u96e3\u75c5\u3084\u5e0c\u5c11\u75be\u60a3\u306e\u60c5\u5831\u3092\u8abf\u3079\u305f\u3044\u3068\u304d\u306f<a href=\"https:\/\/www.nanbyou.or.jp\/\" target=\"_blank\" rel=\"noopener\">\u96e3\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/a>\u304c\u5f79\u7acb\u3061\u307e\u3059\u3002\u767a\u9054\u306e\u652f\u63f4\u306b\u3064\u3044\u3066\u306f<a href=\"https:\/\/www.rehab.go.jp\/ddis\/\" target=\"_blank\" rel=\"noopener\">\u56fd\u7acb\u969c\u5bb3\u8005\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u30bb\u30f3\u30bf\u30fc \u767a\u9054\u969c\u5bb3\u60c5\u5831\u30fb\u652f\u63f4\u30bb\u30f3\u30bf\u30fc<\/a>\u304c\u3001\u76f8\u8ac7\u5148\u3084\u652f\u63f4\u306e\u8003\u3048\u65b9\u3092\u307e\u3068\u3081\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>CTCF\u907a\u4f1d\u5b50\u306e\u5909\u5316\u306b\u95a2\u3059\u308b\u56fd\u969b\u7684\u306a\u75c7\u4f8b\u306e\u96c6\u7a4d\u306f\u3001\u7c73\u56fd\u56fd\u7acb\u533b\u5b66\u56f3\u66f8\u9928\u306e<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK603087\/\" target=\"_blank\" rel=\"noopener\">GeneReviews\u300cCTCF-Related Disorder\u300d<\/a>\u3067\u516c\u958b\u4e2d\u3067\u3059\u3002\u3053\u306e\u8a18\u4e8b\u306e\u75c7\u72b6\u306e\u983b\u5ea6\u30c7\u30fc\u30bf\u3082\u3001\u3053\u306eGeneReviews\u306e\u5831\u544a\u306b\u57fa\u3065\u3044\u3066\u3044\u307e\u3059\u3002\u67d3\u8272\u4f5316q22\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u3057\u3066\u306e\u60c5\u5831\u306f<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/medgen\/482782\" target=\"_blank\" rel=\"noopener\">NCBI MedGen<\/a>\u3084\u3001\u6b27\u5dde\u306e\u5e0c\u5c11\u75be\u60a3\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9<a href=\"https:\/\/www.orpha.net\/en\/disease\/detail\/658540\" target=\"_blank\" rel=\"noopener\">Orphanet<\/a>\u3067\u3082\u78ba\u8a8d\u3067\u304d\u307e\u3059\u3002\u4e3b\u6cbb\u533b\u3068\u76f8\u8ac7\u3059\u308b\u969b\u306e\u53c2\u8003\u306b\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<p>\u8eab\u8fd1\u306a\u652f\u3048\u3068\u3057\u3066\u306f\u3001\u5730\u57df\u306e\u4fdd\u5065\u30bb\u30f3\u30bf\u30fc\u3084\u5150\u7ae5\u767a\u9054\u652f\u63f4\u30bb\u30f3\u30bf\u30fc\u3001\u540c\u3058\u7d4c\u9a13\u3092\u6301\u3064\u5bb6\u65cf\u4f1a\u306e\u5b58\u5728\u304c\u3042\u308a\u307e\u3059\u3002\u533b\u7642\u8cbb\u3084\u7642\u80b2\u306b\u95a2\u3059\u308b\u52a9\u6210\u5236\u5ea6\u3082\u3042\u308b\u305f\u3081\u3001\u5e02\u533a\u753a\u6751\u306e\u7a93\u53e3\u3067\u78ba\u8a8d\u3057\u3066\u307f\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/chromosome-microdeletion-intellectual-disability\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u67d3\u8272\u4f53\u306e\u5c0f\u3055\u306a\u7570\u5e38\u304c\u77e5\u7684\u969c\u5bb3\u3092\u5f15\u304d\u8d77\u3053\u3059\u3063\u3066\u77e5\u3063\u3066\u307e\u3059\u304b\uff1f <\/div>\n          <div class=\"blog-card-excerpt\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u306eNIPT\u306f\u3001\u67d3\u8272\u4f53\u7570\u5e38\u306b\u3088\u308b\u77e5\u7684\u969c\u5bb3\u30ea\u30b9\u30af\u3082\u628a\u63e1\u53ef\u80fd\u3002\u5fae\u5c0f\u6b20\u5931\u30fb\u91cd\u8907\u306e\u65e9\u671f\u767a\u898b\u3067\u51fa\u7523\u6e96\u5099\u3068\u533b\u7642\u652f\u63f4\u3092\u30b5\u30dd\u30fc\u30c8\u3057\u307e\u3059\u3002\r\n...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<div style=\"text-align:center;margin:2em 0;\"><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/line-registration\/\" target=\"_blank\" rel=\"noopener\" style=\"display:inline-block;padding:0.8em 2em;background:#e8608a;color:#fff;border-radius:30px;text-decoration:none;font-weight:bold;\">\u51fa\u751f\u524d\u8a3a\u65ad\u30fb\u907a\u4f1d\u76f8\u8ac7\u3092LINE\u3067\u7121\u6599\u76f8\u8ac7\u3059\u308b<\/a><\/div>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%82%88%E3%81%8F%E3%81%82%E3%82%8B%E8%B3%AA%E5%95%8F\"><\/span>\u3088\u304f\u3042\u308b\u8cea\u554f<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_16q22%E6%AC%A0%E5%A4%B1%E7%97%87%E5%80%99%E7%BE%A4%E3%81%AFNIPT%E3%81%A7%E3%82%8F%E3%81%8B%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span><strong>Q. 16q22\u6b20\u5931\u75c7\u5019\u7fa4\u306fNIPT\u3067\u308f\u304b\u308a\u307e\u3059\u304b\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3053\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>(\u65b0\u578b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>)\u306e\u4e00\u822c\u7684\u306a\u5bfe\u8c61\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u4e00\u90e8\u65bd\u8a2d\u3067\u306f\u62e1\u5927\u691c\u67fb\u306e\u30aa\u30d7\u30b7\u30e7\u30f3\u9805\u76ee\u3068\u3057\u3066\u6271\u308f\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u5bfe\u8c61\u7bc4\u56f2\u306f\u9650\u3089\u308c\u691c\u51fa\u7387\u306b\u3082\u5e45\u304c\u3042\u308a\u307e\u3059\u3002NIPT\u306f\u975e\u78ba\u5b9a\u7684\u306a\u691c\u67fb\u306e\u305f\u3081\u3001\u53ef\u80fd\u6027\u304c\u793a\u3055\u308c\u3066\u3082\u305d\u308c\u3060\u3051\u3067\u306f\u78ba\u5b9a\u3057\u307e\u305b\u3093\u3002\u78ba\u5b9a\u8a3a\u65ad\u306b\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chorionic-villus-test\/\">\u7d68\u6bdb\u691c\u67fb<\/a>\u3067\u63a1\u53d6\u3057\u305f\u7d30\u80de\u3092\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u67d3\u8272\u4f53\u691c\u67fb\u3067\u8abf\u3079\u308b\u65b9\u6cd5\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_%E6%AC%A1%E3%81%AE%E5%AD%90%E3%81%A9%E3%82%82%E3%81%AB%E9%81%BA%E4%BC%9D%E3%81%97%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span><strong>Q. \u6b21\u306e\u5b50\u3069\u3082\u306b\u907a\u4f1d\u3057\u307e\u3059\u304b\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u89aa\u5fa1\u3055\u3093\u306e\u67d3\u8272\u4f53\u691c\u67fb\u306e\u7d50\u679c\u306b\u3088\u308a\u307e\u3059\u3002\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u304c\u6b63\u5e38(de novo\u5909\u7570)\u3067\u3042\u308c\u3070\u3001\u6b21\u306e\u304a\u5b50\u69d8\u304c\u540c\u3058\u75c5\u6c17\u306b\u306a\u308b\u78ba\u7387\u306f\u4e00\u822c\u3068\u540c\u3058\u304f\u4f4e\u304f\u30011%\u4ee5\u4e0b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\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\u308b\u305f\u3081\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u78ba\u8a8d\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_%E7%9F%A5%E7%9A%84%E9%9A%9C%E5%AE%B3%E3%81%AE%E7%A8%8B%E5%BA%A6%E3%81%AF%E3%81%A9%E3%81%AE%E3%81%8F%E3%82%89%E3%81%84%E3%81%A7%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span><strong>Q. \u77e5\u7684\u969c\u5bb3\u306e\u7a0b\u5ea6\u306f\u3069\u306e\u304f\u3089\u3044\u3067\u3059\u304b\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u500b\u4eba\u5dee\u304c\u975e\u5e38\u306b\u5927\u304d\u3044\u3067\u3059\u3002\u8a00\u8449\u3067\u306e\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u304c\u96e3\u3057\u3044\u91cd\u5ea6\u306e\u65b9\u304b\u3089\u3001\u652f\u63f4\u5b66\u7d1a\u306b\u901a\u3044\u306a\u304c\u3089\u8aad\u307f\u66f8\u304d\u304c\u3067\u304d\u308b\u8efd\u5ea6\u301c\u4e2d\u7b49\u5ea6\u306e\u65b9\u307e\u3067\u69d8\u3005\u3067\u3059\u3002CTCF\u907a\u4f1d\u5b50\u4ee5\u5916\u306e\u6b20\u5931\u7bc4\u56f2\u3082\u5f71\u97ff\u3059\u308b\u305f\u3081\u3001\u4e00\u6982\u306b\u306f\u8a00\u3048\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_%E5%AF%BF%E5%91%BD%E3%81%AB%E5%BD%B1%E9%9F%BF%E3%81%AF%E3%81%82%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span><strong>Q. \u5bff\u547d\u306b\u5f71\u97ff\u306f\u3042\u308a\u307e\u3059\u304b\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u91cd\u7be4\u306a\u5fc3\u75be\u60a3\u3084\u814e\u75be\u60a3\u3092\u5408\u4f75\u3057\u3066\u3044\u306a\u3051\u308c\u3070\u3001\u751f\u547d\u4e88\u5f8c\u306f\u826f\u597d\u3067\u3042\u308a\u3001\u5065\u5eb7\u306a\u4eba\u3068\u5927\u304d\u304f\u5909\u308f\u3089\u306a\u3044\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u6210\u4eba\u3057\u3066\u751f\u6d3b\u3057\u3066\u3044\u308b\u65b9\u306e\u5831\u544a\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_16q22%E6%AC%A0%E5%A4%B1%E3%81%A816p112%E6%AC%A0%E5%A4%B1%E3%81%AF%E5%90%8C%E3%81%98%E7%97%85%E6%B0%97%E3%81%A7%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span><strong>Q. 16q22\u6b20\u5931\u306816p11.2\u6b20\u5931\u306f\u540c\u3058\u75c5\u6c17\u3067\u3059\u304b\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3044\u3044\u3048\u3001\u5225\u306e\u75c5\u6c17\u3067\u3059\u3002\u3069\u3061\u3089\u308216\u756a\u67d3\u8272\u4f53\u306e\u5909\u5316\u3067\u3059\u304c\u3001\u6b20\u3051\u3066\u3044\u308b\u5834\u6240(p11.2\u304bq22\u304b)\u304c\u7570\u306a\u308a\u3001\u542b\u307e\u308c\u308b\u907a\u4f1d\u5b50\u3082\u75c7\u72b6\u306e\u7279\u5fb4\u3082\u9055\u3044\u307e\u3059\u3002\u8fd1\u304f\u306e\u9818\u57df\u306e\u5909\u5316\u306b\u3064\u3044\u3066\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-16p12-2-p11-2-deletion-syndrome-guide\/\">16p12.2-p11.2\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u8a18\u4e8b<\/a>\u3067\u89e3\u8aac\u3057\u3066\u3044\u307e\u3059\u3002\u691c\u67fb\u7d50\u679c\u306b\u8a18\u8f09\u3055\u308c\u305f\u6b63\u78ba\u306a\u4f4d\u7f6e\u3092\u78ba\u8a8d\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_%E8%A6%AA%E3%81%AE%E8%82%B2%E3%81%A6%E6%96%B9%E3%82%84%E5%A6%8A%E5%A8%A0%E4%B8%AD%E3%81%AE%E9%81%8E%E3%81%94%E3%81%97%E6%96%B9%E3%81%8C%E5%8E%9F%E5%9B%A0%E3%81%A7%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span><strong>Q. \u89aa\u306e\u80b2\u3066\u65b9\u3084\u598a\u5a20\u4e2d\u306e\u904e\u3054\u3057\u65b9\u304c\u539f\u56e0\u3067\u3059\u304b\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3044\u3044\u3048\u3001\u539f\u56e0\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u5927\u534a\u306fde novo(\u7a81\u7136)\u5909\u7570\u306b\u3088\u308b\u3082\u306e\u3067\u3001\u598a\u5a20\u4e2d\u306e\u98df\u3079\u7269\u3084\u751f\u6d3b\u7fd2\u6163\u3068\u306f\u95a2\u4fc2\u3042\u308a\u307e\u305b\u3093\u3002\u3054\u304f\u4e00\u90e8\u306f\u89aa\u5fa1\u3055\u3093\u306e\u5747\u8861\u578b\u8ee2\u5ea7\u306b\u7531\u6765\u3057\u307e\u3059\u304c\u3001\u3053\u308c\u3082\u89aa\u5fa1\u3055\u3093\u306e\u8cac\u4efb\u3067\u306f\u306a\u304f\u3001\u8ab0\u306e\u305b\u3044\u3067\u3082\u306a\u3044\u907a\u4f1d\u306e\u4ed5\u7d44\u307f\u305d\u306e\u3082\u306e\u306b\u3088\u308b\u3082\u306e\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_%E5%85%84%E5%BC%9F%E5%A7%89%E5%A6%B9%E3%81%B8%E3%81%AE%E5%BD%B1%E9%9F%BF%E3%81%AF%E3%81%82%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span><strong>Q. \u5144\u5f1f\u59c9\u59b9\u3078\u306e\u5f71\u97ff\u306f\u3042\u308a\u307e\u3059\u304b\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u304c\u6b63\u5e38\u3067\u3042\u308c\u3070\u3001\u3054\u304d\u3087\u3046\u3060\u3044\u3078\u306e\u5f71\u97ff\u306f\u4e00\u822c\u7684\u306a\u30ea\u30b9\u30af\u3068\u5909\u308f\u308a\u307e\u305b\u3093\u3002\u305f\u3060\u3057\u3001\u307e\u308c\u306b\u751f\u6b96\u7d30\u80de\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mosaicism\/\">\u30e2\u30b6\u30a4\u30af<\/a>(\u4e00\u90e8\u306e\u751f\u6b96\u7d30\u80de\u3060\u3051\u306b\u5909\u5316\u304c\u3042\u308b\u72b6\u614b)\u306b\u3088\u308a\u518d\u767a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u6c17\u306b\u306a\u308b\u5834\u5408\u306f\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u76f8\u8ac7\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%BE%E3%81%A8%E3%82%81\"><\/span>\u307e\u3068\u3081<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 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u691c\u67fb\u304c\u6709\u52b9\u3067\u3001NIPT\u306e\u57fa\u672c\u7684\u306a\u5bfe\u8c61\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li><strong>\u6cbb\u7642<\/strong>\u306f\u3001\u6804\u990a\u7ba1\u7406\u3068\u65e9\u671f\u304b\u3089\u306e\u7642\u80b2(PT\u30fbOT\u30fbST)\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ol>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%AE%B6%E6%97%8F%E3%81%B8%E3%81%AE%E3%83%A1%E3%83%83%E3%82%BB%E3%83%BC%E3%82%B8\"><\/span>\u5bb6\u65cf\u3078\u306e\u30e1\u30c3\u30bb\u30fc\u30b8<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u8a3a\u65ad\u540d\u3092\u805e\u3044\u305f\u76f4\u5f8c\u3001\u300c<a 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class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%AC%A1%E3%81%AE%E3%82%A2%E3%82%AF%E3%82%B7%E3%83%A7%E3%83%B3%EF%BC%9A%E3%81%BE%E3%81%9A%E7%A2%BA%E8%AA%8D%E3%81%97%E3%81%9F%E3%81%84%E3%81%93%E3%81%A8\"><\/span><strong>\u6b21\u306e\u30a2\u30af\u30b7\u30e7\u30f3\uff1a\u307e\u305a\u78ba\u8a8d\u3057\u305f\u3044\u3053\u3068<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3053\u306e\u8a18\u4e8b\u3092\u8aad\u3093\u3060\u5f8c\u3001\u4e3b\u6cbb\u533b\u306b\u78ba\u8a8d\u3059\u308b\u3068\u826f\u3044\u5177\u4f53\u7684\u306a\u30dd\u30a4\u30f3\u30c8\u3067\u3059\u3002<\/p>\n\n\n\n<ol 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