{"id":121877,"date":"2026-01-07T17:53:54","date_gmt":"2026-01-07T08:53:54","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=121877"},"modified":"2026-07-24T05:19:48","modified_gmt":"2026-07-23T20:19:48","slug":"proximal-chromosome-16q-duplication-syndrome-guide","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/proximal-chromosome-16q-duplication-syndrome-guide\/","title":{"rendered":"16q\u8fd1\u4f4d\u91cd\u8907\u75c7\u5019\u7fa4"},"content":{"rendered":"\n<p><strong>\u304a\u5b50\u3055\u307e\u304c\u300c16\u756a\u67d3\u8272\u4f53\u9577\u8155\u8fd1\u4f4d\u91cd\u8907(Proximal chromosome 16q duplication)\u300d\u3001\u3042\u308b\u3044\u306f\u300c16q11.2\u304b\u3089q13\u3042\u305f\u308a\u304c\u5897\u3048\u3066\u3044\u308b\u300d\u3068\u544a\u3052\u3089\u308c\u3001\u805e\u304d\u6163\u308c\u306a\u3044\u8a00\u8449\u306b\u6238\u60d1\u3063\u3066\u3044\u3089\u3063\u3057\u3083\u308b\u306e\u3067\u306f\u306a\u3044\u3067\u3057\u3087\u3046\u304b\u3002<\/strong><\/p>\n\n\n\n<p><strong>\u7d50\u8ad6\u304b\u3089\u304a\u4f1d\u3048\u3057\u307e\u3059\u300216q\u8fd1\u4f4d\u91cd\u8907\u75c7\u5019\u7fa4\u306f\u300116\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\u306e\u3046\u3061\u4e2d\u5fc3\u306b\u8fd1\u3044\u90e8\u5206(16q11.2-q13\u4ed8\u8fd1)\u304c\u4f59\u5206\u306b\u30b3\u30d4\u30fc\u3055\u308c\u3066\u751f\u307e\u308c\u308b\u3001\u4e16\u754c\u7684\u306b\u3082\u5831\u544a\u4f8b\u304c\u975e\u5e38\u306b\u9650\u3089\u308c\u308b\u5e0c\u5c11\u306a\u67d3\u8272\u4f53\u75be\u60a3\u3067\u3059\u3002<\/strong>\u767a\u9054\u306e\u9045\u308c\u3084\u6210\u9577\u306e\u3086\u3063\u304f\u308a\u3055\u304c\u4e2d\u5fc3\u7684\u306a\u7279\u5fb4\u3067\u3001\u75c7\u72b6\u306e\u91cd\u3055\u306b\u306f\u5927\u304d\u306a\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u306e\u8a18\u4e8b\u3067\u306f\u3001\u539f\u56e0\u30fb\u75c7\u72b6\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u75c7<\/a>\u95a2\u9023\u3067\u77e5\u3089\u308c\u308b16p11.2\u91cd\u8907\u75c7\u5019\u7fa4\u3068\u306e\u9055\u3044\u30fbNIPT\u3068\u306e\u95a2\u4fc2\u30fb\u6cbb\u7642\u306e\u898b\u901a\u3057\u307e\u3067\u3092\u6574\u7406\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7c73\u56fd\u56fd\u7acb\u885b\u751f\u7814\u7a76\u6240(NIH)\u306e\u5e0c\u5c11\u75be\u60a3\u60c5\u5831\u30bb\u30f3\u30bf\u30fcGARD\u3084\u3001\u30af\u30ed\u30a2\u30c1\u30a2\u533b\u5b66\u96d1\u8a8c\u306b\u63b2\u8f09\u3055\u308c\u305f\u75c7\u4f8b\u5831\u544a\u30fb\u6587\u732e\u30ec\u30d3\u30e5\u30fc\u306a\u3069\u3001\u516c\u7684\u6a5f\u95a2\u30fb\u5b66\u8853\u60c5\u5831\u306b\u3082\u3068\u3065\u3044\u3066\u304a\u4f1d\u3048\u3057\u307e\u3059\u3002\u4e00\u3064\u305a\u3064\u3001\u843d\u3061\u7740\u3044\u3066\u78ba\u8a8d\u3057\u3066\u3044\u304d\u307e\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<div class=\"info-box\" style=\"margin:1.5em 0;padding:1.2em 1.4em;background:#f3f8ff;border-left:5px solid #5b9bd5;border-radius:8px;\">\n<p style=\"font-weight:bold;margin-bottom:0.6em;\">\ud83d\udca1 \u3053\u306e\u8a18\u4e8b\u3067\u308f\u304b\u308b\u3053\u3068<\/p>\n<ul style=\"margin:0;padding-left:1.2em;\">\n<li>16q\u8fd1\u4f4d\u91cd\u8907\u75c7\u5019\u7fa4\u304c\u3069\u306e\u3088\u3046\u306a\u67d3\u8272\u4f53\u306e\u5909\u5316\u306a\u306e\u304b<\/li>\n<li><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u75c7<\/a>\u3068\u306e\u95a2\u9023\u3067\u77e5\u3089\u308c\u308b16p11.2\u91cd\u8907\u75c7\u5019\u7fa4\u3068\u4f55\u304c\u9055\u3046\u306e\u304b<\/li>\n<li>\u767a\u9054\u306e\u9045\u308c\u30fb\u6210\u9577\u30fb\u8eab\u4f53\u7684\u7279\u5fb4\u3092\u4e2d\u5fc3\u3068\u3057\u305f\u4e3b\u306a\u75c7\u72b6<\/li>\n<li>\u539f\u56e0\u306e\u591a\u304f\u304c\u7a81\u7136\u5909\u7570(de novo)\u3067\u3042\u308b\u7406\u7531<\/li>\n<li><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u30fbNIPT\u3067\u3053\u306e\u91cd\u8907\u304c\u5bfe\u8c61\u306b\u306a\u308b\u304b\u306a\u3089\u306a\u3044\u304b<\/li>\n<li>\u8a3a\u65ad\u5f8c\u306e\u6cbb\u7642\u65b9\u91dd\u3068\u3054\u5bb6\u65cf\u3078\u306e\u652f\u63f4\u306e\u9078\u629e\u80a2<\/li>\n<\/ul>\n<\/div>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\"><\/p>\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u304a\u6bcd\u3055\u3093\u3068\u8d64\u3061\u3083\u3093\u306e\u305f\u3081\u306b<br \/><span>NIPT\u691c\u67fb<\/span>\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u8a73\u3057\u304f\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p><\/a>\n<\/div>\n<\/div>\n\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\/proximal-chromosome-16q-duplication-syndrome-guide\/#1_16q%E8%BF%91%E4%BD%8D%E9%87%8D%E8%A4%87%E7%97%87%E5%80%99%E7%BE%A4%E3%81%A8%E3%81%AF%E6%9F%93%E8%89%B2%E4%BD%93%E3%81%AE%E5%A4%89%E5%8C%96%E3%82%92%E6%AD%A3%E3%81%97%E3%81%8F%E7%90%86%E8%A7%A3%E3%81%99%E3%82%8B\" >1. 16q\u8fd1\u4f4d\u91cd\u8907\u75c7\u5019\u7fa4\u3068\u306f(\u67d3\u8272\u4f53\u306e\u5909\u5316\u3092\u6b63\u3057\u304f\u7406\u89e3\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-2\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/proximal-chromosome-16q-duplication-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><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/proximal-chromosome-16q-duplication-syndrome-guide\/#2_16p112%E9%87%8D%E8%A4%87%E7%97%87%E5%80%99%E7%BE%A4%E8%87%AA%E9%96%89%E7%97%87%E3%81%A8%E3%81%AE%E9%96%A2%E9%80%A3%E3%81%A7%E7%9F%A5%E3%82%89%E3%82%8C%E3%82%8B%E7%9F%AD%E8%85%95%E9%87%8D%E8%A4%87%E3%81%A8%E3%81%AE%E9%81%95%E3%81%84\" >2. 16p11.2\u91cd\u8907\u75c7\u5019\u7fa4(\u81ea\u9589\u75c7\u3068\u306e\u95a2\u9023\u3067\u77e5\u3089\u308c\u308b\u77ed\u8155\u91cd\u8907)\u3068\u306e\u9055\u3044<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/proximal-chromosome-16q-duplication-syndrome-guide\/#3_%E4%B8%BB%E3%81%AA%E7%97%87%E7%8A%B6\" >3. \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-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/proximal-chromosome-16q-duplication-syndrome-guide\/#%E7%99%BA%E9%81%94%E3%83%BB%E8%A1%8C%E5%8B%95%E3%81%AE%E7%89%B9%E5%BE%B4\" >\u767a\u9054\u30fb\u884c\u52d5\u306e\u7279\u5fb4<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/proximal-chromosome-16q-duplication-syndrome-guide\/#%E6%88%90%E9%95%B7%E3%83%BB%E6%A0%84%E9%A4%8A%E9%9D%A2%E3%81%AE%E8%AA%B2%E9%A1%8C\" >\u6210\u9577\u30fb\u6804\u990a\u9762\u306e\u8ab2\u984c<\/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\/proximal-chromosome-16q-duplication-syndrome-guide\/#%E8%BA%AB%E4%BD%93%E7%9A%84%E3%81%AA%E7%89%B9%E5%BE%B4\" >\u8eab\u4f53\u7684\u306a\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\/proximal-chromosome-16q-duplication-syndrome-guide\/#%E5%90%88%E4%BD%B5%E7%97%87%E3%81%AB%E3%81%A4%E3%81%84%E3%81%A6%E5%A0%B1%E5%91%8A%E3%81%AB%E5%B9%85%E3%81%8C%E3%81%82%E3%82%8B%E9%A0%85%E7%9B%AE\" >\u5408\u4f75\u75c7\u306b\u3064\u3044\u3066(\u5831\u544a\u306b\u5e45\u304c\u3042\u308b\u9805\u76ee)<\/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\/proximal-chromosome-16q-duplication-syndrome-guide\/#4_%E5%8E%9F%E5%9B%A0%E3%81%A8%E9%81%BA%E4%BC%9D%E5%BD%A2%E5%BC%8F\" >4. \u539f\u56e0\u3068\u907a\u4f1d\u5f62\u5f0f<\/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\/proximal-chromosome-16q-duplication-syndrome-guide\/#%E7%AA%81%E7%84%B6%E5%A4%89%E7%95%B0de_novo%E5%A4%89%E7%95%B0\" >\u7a81\u7136\u5909\u7570(de novo\u5909\u7570)<\/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\/proximal-chromosome-16q-duplication-syndrome-guide\/#%E8%A6%AA%E3%81%AE%E6%9F%93%E8%89%B2%E4%BD%93%E8%BB%A2%E5%BA%A7%E5%AE%B6%E6%97%8F%E6%80%A7\" >\u89aa\u306e\u67d3\u8272\u4f53\u8ee2\u5ea7(\u5bb6\u65cf\u6027)<\/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\/proximal-chromosome-16q-duplication-syndrome-guide\/#%E3%81%AA%E3%81%9C%E7%97%87%E7%8A%B6%E3%81%8C%E5%87%BA%E3%82%8B%E3%81%AE%E3%81%8B\" >\u306a\u305c\u75c7\u72b6\u304c\u51fa\u308b\u306e\u304b<\/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\/proximal-chromosome-16q-duplication-syndrome-guide\/#5_%E8%A8%BA%E6%96%AD%E3%81%A8%E6%A4%9C%E6%9F%BB\" >5. \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\/proximal-chromosome-16q-duplication-syndrome-guide\/#%E6%9F%93%E8%89%B2%E4%BD%93%E3%83%9E%E3%82%A4%E3%82%AF%E3%83%AD%E3%82%A2%E3%83%AC%E3%82%A4%E6%A4%9C%E6%9F%BBCMA\" >\u67d3\u8272\u4f53\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\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\/proximal-chromosome-16q-duplication-syndrome-guide\/#%E4%B8%A1%E8%A6%AA%E3%81%AE%E6%9F%93%E8%89%B2%E4%BD%93%E6%A4%9C%E6%9F%BB%E3%81%A8%E7%94%BB%E5%83%8F%E6%A4%9C%E6%9F%BB\" >\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u691c\u67fb\u3068\u753b\u50cf\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-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/proximal-chromosome-16q-duplication-syndrome-guide\/#6_%E5%87%BA%E7%94%9F%E5%89%8D%E8%A8%BA%E6%96%AD%E3%83%BBNIPT%E3%81%A8%E3%81%AE%E9%96%A2%E4%BF%82\" >6. \u51fa\u751f\u524d\u8a3a\u65ad\u30fbNIPT\u3068\u306e\u95a2\u4fc2<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/proximal-chromosome-16q-duplication-syndrome-guide\/#7_%E6%B2%BB%E7%99%82%E3%81%A8%E7%AE%A1%E7%90%86_%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\" >7. \u6cbb\u7642\u3068\u7ba1\u7406:\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-18\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/proximal-chromosome-16q-duplication-syndrome-guide\/#%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\" >\u65e9\u671f\u7642\u80b2(\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3)<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-19\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/proximal-chromosome-16q-duplication-syndrome-guide\/#%E6%A0%84%E9%A4%8A%E3%81%A8%E9%A3%9F%E4%BA%8B%E3%81%AE%E7%AE%A1%E7%90%86\" >\u6804\u990a\u3068\u98df\u4e8b\u306e\u7ba1\u7406<\/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\/proximal-chromosome-16q-duplication-syndrome-guide\/#%E5%90%88%E4%BD%B5%E7%97%87%E3%81%AE%E7%AE%A1%E7%90%86\" >\u5408\u4f75\u75c7\u306e\u7ba1\u7406<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-21\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/proximal-chromosome-16q-duplication-syndrome-guide\/#8_%E4%BA%88%E5%BE%8C_%E7%97%87%E4%BE%8B%E3%81%8B%E3%82%89%E3%82%8F%E3%81%8B%E3%82%8B%E5%80%8B%E4%BA%BA%E5%B7%AE\" >8. \u4e88\u5f8c:\u75c7\u4f8b\u304b\u3089\u308f\u304b\u308b\u500b\u4eba\u5dee<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-22\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/proximal-chromosome-16q-duplication-syndrome-guide\/#9_%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%E3%81%A8%E3%81%94%E5%AE%B6%E6%97%8F%E3%81%B8%E3%81%AE%E6%94%AF%E6%8F%B4\" >9. \u65e5\u3005\u306e\u751f\u6d3b\u3067\u306e\u5de5\u592b\u3068\u3054\u5bb6\u65cf\u3078\u306e\u652f\u63f4<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-23\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/proximal-chromosome-16q-duplication-syndrome-guide\/#%E6%AC%A1%E3%81%AB%E3%81%99%E3%81%B9%E3%81%8D%E3%81%93%E3%81%A8%EF%BC%9A%E3%81%BE%E3%81%9A%E7%A2%BA%E8%AA%8D%E3%81%97%E3%81%9F%E3%81%843%E3%81%A4%E3%81%AE%E3%83%9D%E3%82%A4%E3%83%B3%E3%83%88\" >\u6b21\u306b\u3059\u3079\u304d\u3053\u3068\uff1a\u307e\u305a\u78ba\u8a8d\u3057\u305f\u30443\u3064\u306e\u30dd\u30a4\u30f3\u30c8<\/a><\/li><\/ul><\/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\/proximal-chromosome-16q-duplication-syndrome-guide\/#10_%E3%81%BE%E3%81%A8%E3%82%81\" >10. \u307e\u3068\u3081<\/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\/proximal-chromosome-16q-duplication-syndrome-guide\/#%E3%82%88%E3%81%8F%E3%81%82%E3%82%8B%E8%B3%AA%E5%95%8F\" >\u3088\u304f\u3042\u308b\u8cea\u554f<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-26\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/proximal-chromosome-16q-duplication-syndrome-guide\/#16q%E8%BF%91%E4%BD%8D%E9%87%8D%E8%A4%87%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%A7%E3%81%99%E3%81%8B%E3%80%82\" >16q\u8fd1\u4f4d\u91cd\u8907\u75c7\u5019\u7fa4\u3068\u306f\u3069\u306e\u3088\u3046\u306a\u75c5\u6c17\u3067\u3059\u304b\u3002<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-27\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/proximal-chromosome-16q-duplication-syndrome-guide\/#%E8%87%AA%E9%96%89%E7%97%87%E3%81%A8%E3%81%AE%E9%96%A2%E9%80%A3%E3%81%A7%E7%9F%A5%E3%82%89%E3%82%8C%E3%82%8B16p112%E9%87%8D%E8%A4%87%E7%97%87%E5%80%99%E7%BE%A4%E3%81%A8%E5%90%8C%E3%81%98%E7%97%85%E6%B0%97%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\" >\u81ea\u9589\u75c7\u3068\u306e\u95a2\u9023\u3067\u77e5\u3089\u308c\u308b16p11.2\u91cd\u8907\u75c7\u5019\u7fa4\u3068\u540c\u3058\u75c5\u6c17\u3067\u3059\u304b\u3002<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-28\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/proximal-chromosome-16q-duplication-syndrome-guide\/#16q%E8%BF%91%E4%BD%8D%E9%87%8D%E8%A4%87%E3%81%AFNIPT%E3%81%A7%E3%82%8F%E3%81%8B%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >16q\u8fd1\u4f4d\u91cd\u8907\u306fNIPT\u3067\u308f\u304b\u308a\u307e\u3059\u304b\u3002<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-29\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/proximal-chromosome-16q-duplication-syndrome-guide\/#%E9%81%BA%E4%BC%9D%E6%80%A7%E3%81%AE%E7%97%85%E6%B0%97%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82%E6%AC%A1%E3%81%AE%E5%AD%90%E3%81%AB%E3%82%82%E5%BD%B1%E9%9F%BF%E3%81%97%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >\u907a\u4f1d\u6027\u306e\u75c5\u6c17\u3067\u3059\u304b\u3002\u6b21\u306e\u5b50\u306b\u3082\u5f71\u97ff\u3057\u307e\u3059\u304b\u3002<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-30\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/proximal-chromosome-16q-duplication-syndrome-guide\/#%E6%B2%BB%E7%99%82%E6%B3%95%E3%81%AF%E3%81%82%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u3059\u304b\u3002<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-31\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/proximal-chromosome-16q-duplication-syndrome-guide\/#%E5%AF%BF%E5%91%BD%E3%82%84%E5%B0%86%E6%9D%A5%E3%81%AE%E8%A6%8B%E9%80%9A%E3%81%97%E3%81%AF%E3%81%A9%E3%81%86%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\" >\u5bff\u547d\u3084\u5c06\u6765\u306e\u898b\u901a\u3057\u306f\u3069\u3046\u3067\u3059\u304b\u3002<\/a><\/li><\/ul><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_16q%E8%BF%91%E4%BD%8D%E9%87%8D%E8%A4%87%E7%97%87%E5%80%99%E7%BE%A4%E3%81%A8%E3%81%AF%E6%9F%93%E8%89%B2%E4%BD%93%E3%81%AE%E5%A4%89%E5%8C%96%E3%82%92%E6%AD%A3%E3%81%97%E3%81%8F%E7%90%86%E8%A7%A3%E3%81%99%E3%82%8B\"><\/span><strong>1. 16q\u8fd1\u4f4d\u91cd\u8907\u75c7\u5019\u7fa4\u3068\u306f(\u67d3\u8272\u4f53\u306e\u5909\u5316\u3092\u6b63\u3057\u304f\u7406\u89e3\u3059\u308b)<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u3053\u306e\u75c5\u6c17\u306f\u300116\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155(q)\u306e\u3046\u3061\u3001\u4e2d\u5fc3(\u52d5\u539f\u4f53)\u306b\u8fd1\u3044\u300c\u8fd1\u4f4d\u300d\u306e\u90e8\u5206\u304c\u4f59\u5206\u306b\u5897\u3048\u3066\u3044\u308b\u72b6\u614b\u3067\u3059\u3002<\/strong>\u901a\u5e38\u306f\u7236\u7531\u6765\u30fb\u6bcd\u7531\u6765\u306e2\u672c\u3067\u8db3\u308a\u308b\u907a\u4f1d\u60c5\u5831\u304c\u3001\u91cd\u8907\u306b\u3088\u3063\u30663\u3064\u5206\u306b\u306a\u3063\u3066\u3044\u308b\u72b6\u614b\u3092\u6307\u3057\u3001\u90e8\u5206\u30c8\u30ea\u30bd\u30df\u30fc\u3068\u3082\u547c\u3070\u308c\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<p>\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\u4e00\u3064\u305a\u3064\u898b\u3066\u3044\u304d\u307e\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Chromosome 16(16\u756a\u67d3\u8272\u4f53):<\/strong> 23\u5bfe\u306e\u67d3\u8272\u4f53\u306e\u3046\u3061\u3001\u4e2d\u304f\u3089\u3044\u306e\u5927\u304d\u3055\u3092\u6301\u306416\u756a\u76ee\u306e\u67d3\u8272\u4f53\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>q(\u9577\u8155):<\/strong> \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><strong>Proximal(\u8fd1\u4f4d):<\/strong> \u52d5\u539f\u4f53\u306b\u8fd1\u3044\u90e8\u5206\u3092\u6307\u3057\u3001\u5177\u4f53\u7684\u306b\u306f16q11.2\u30fb16q12\u30fb16q13\u3068\u3044\u3063\u305f\u9818\u57df\u3092\u542b\u3080\u91cd\u8907\u3092\u6307\u3059\u306e\u304c\u4e00\u822c\u7684\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>Duplication(\u91cd\u8907):<\/strong> \u901a\u5e382\u672c\u3067\u3042\u308b\u306f\u305a\u306e\u907a\u4f1d\u60c5\u5831\u304c3\u3064\u5206\u306b\u306a\u3063\u3066\u3044\u308b\u72b6\u614b\u3067\u3059\u3002<\/li>\n<\/ul>\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\u308b\u306a\u3089\u3001\u3053\u306e\u75c7\u5019\u7fa4\u306f\u7b2c16\u5dfb\u306e\u9577\u8155\u306b\u3042\u308b\u7ae0\u306e\u4e00\u90e8\u304c\u3001\u8aa4\u3063\u3066\u3082\u3046\u4e00\u5ea6\u30b3\u30d4\u30fc\u3055\u308c\u3066\u631f\u307f\u8fbc\u307e\u308c\u3066\u3044\u308b\u72b6\u614b\u3068\u3044\u3048\u307e\u3059\u3002\u60c5\u5831\u304c\u8db3\u308a\u306a\u3044\u300c\u6b20\u5931\u300d\u3060\u3051\u3067\u306a\u304f\u3001\u60c5\u5831\u304c\u591a\u3059\u304e\u308b\u300c\u91cd\u8907\u300d\u3082\u3001\u4f53\u306e\u767a\u9054\u30d0\u30e9\u30f3\u30b9\u3092\u5d29\u3059\u8981\u56e0\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u30af\u30ed\u30a2\u30c1\u30a2\u533b\u5b66\u96d1\u8a8c\u306b\u63b2\u8f09\u3055\u308c\u305f\u75c7\u4f8b\u5831\u544a\u30fb\u6587\u732e\u30ec\u30d3\u30e5\u30fc\u3067\u306f\u3001<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC3122958\/\" target=\"_blank\" rel=\"noopener\">\u3053\u308c\u307e\u3067\u4e16\u754c\u3067\u5831\u544a\u3055\u308c\u305f\u300c\u7d14\u7c8b\u306a16q\u91cd\u8907\u300d\u306f21\u4f8b<\/a>\u3067\u3001\u305d\u306e\u3046\u306115\u4f8b\u304c\u8fd1\u4f4d16q11-13\u9818\u57df\u306e\u91cd\u8907\u3060\u3063\u305f\u3068\u307e\u3068\u3081\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u4e16\u754c\u7684\u306b\u898b\u3066\u3082\u75c7\u4f8b\u304c\u975e\u5e38\u306b\u5c11\u306a\u304f\u3001\u983b\u5ea6\u3084\u5178\u578b\u7684\u306a\u7d4c\u904e\u306f\u307e\u3060\u78ba\u7acb\u3057\u3066\u3044\u306a\u3044\u6bb5\u968e\u3067\u3059\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/chromosome-16q22-deletion-syndrome-guide\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">16q22\u6b20\u5931\u75c7\u5019\u7fa4\u306b\u3064\u3044\u3066 <\/div>\n          <div class=\"blog-card-excerpt\">\u67d3\u8272\u4f5316q22\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u8a3a\u65ad\u3055\u308c\u305f\u3054\u5bb6\u65cf\u3078\u3002\u3053\u306e\u5e0c\u5c11\u75be\u60a3\u306e\u75c7\u72b6\uff08\u6210\u9577\u969c\u5bb3\u3001\u767a\u9054\u9045\u6ede\u3001\u5c0f\u982d\u75c7\u306a\u3069\uff09\u3001\u539f\u56e0\u3068\u306a\u308bCTCF\u907a\u4f1d\u5b50\u306e\u5f79\u5272\u3001\u30de\u30a4\u30af...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_16p112%E9%87%8D%E8%A4%87%E7%97%87%E5%80%99%E7%BE%A4%E8%87%AA%E9%96%89%E7%97%87%E3%81%A8%E3%81%AE%E9%96%A2%E9%80%A3%E3%81%A7%E7%9F%A5%E3%82%89%E3%82%8C%E3%82%8B%E7%9F%AD%E8%85%95%E9%87%8D%E8%A4%87%E3%81%A8%E3%81%AE%E9%81%95%E3%81%84\"><\/span><strong>2. 16p11.2\u91cd\u8907\u75c7\u5019\u7fa4(\u81ea\u9589\u75c7\u3068\u306e\u95a2\u9023\u3067\u77e5\u3089\u308c\u308b\u77ed\u8155\u91cd\u8907)\u3068\u306e\u9055\u3044<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u300c16\u756a\u67d3\u8272\u4f53\u300d\u3068\u3044\u3046\u3068\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7<\/a>\u3068\u306e\u95a2\u9023\u3067\u77e5\u3089\u308c\u308b16p11.2(\u77ed\u8155)\u306e\u91cd\u8907\u304c\u3088\u304f\u8a71\u984c\u306b\u306a\u308a\u307e\u3059\u304c\u3001\u4eca\u56de\u306e16q(\u9577\u8155)\u8fd1\u4f4d\u91cd\u8907\u3068\u306f\u3001\u5909\u5316\u3057\u3066\u3044\u308b\u5834\u6240\u3082\u60f3\u5b9a\u3055\u308c\u308b\u75c7\u72b6\u306e\u4e2d\u5fc3\u3082\u7570\u306a\u308a\u307e\u3059\u3002<\/strong>\u6df7\u540c\u3055\u308c\u3084\u3059\u3044\u305f\u3081\u3001\u8868\u3067\u6574\u7406\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<figure class=\"wp-table-block\"><table><thead><tr><th>\u6bd4\u8f03\u9805\u76ee<\/th><th>16p11.2\u91cd\u8907\u75c7\u5019\u7fa4(\u77ed\u8155)<\/th><th>16q\u8fd1\u4f4d\u91cd\u8907\u75c7\u5019\u7fa4(\u672c\u8a18\u4e8b\u30fb\u9577\u8155)<\/th><\/tr><\/thead><tbody><tr><td>\u5909\u5316\u3057\u3066\u3044\u308b\u5834\u6240<\/td><td>16\u756a\u67d3\u8272\u4f53\u306e\u77ed\u8155(p)<\/td><td>16\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155(q)\u306e\u8fd1\u4f4d\u90e8<\/td><\/tr><tr><td>\u5831\u544a\u6570<\/td><td>\u6bd4\u8f03\u7684\u5831\u544a\u4f8b\u304c\u591a\u3044\u5fae\u5c0f\u91cd\u8907\u75c7\u5019\u7fa4\u306e\u4e00\u3064<\/td><td>\u4e16\u754c\u306e\u5831\u544a\u4f8b\u304c21\u4f8b(\u3046\u3061\u8fd1\u4f4d\u578b15\u4f8b)\u3068\u304d\u308f\u3081\u3066\u9650\u3089\u308c\u308b<\/td><\/tr><tr><td>\u4e2d\u5fc3\u7684\u306a\u75c7\u72b6<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7<\/a>\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/adhd-genetics-symptoms-support\/\">\u6ce8\u610f\u6b20\u5982\u591a\u52d5\u75c7<\/a>\u30fb\u8a00\u8a9e\u767a\u9054\u306e\u7279\u5fb4<\/td><td>\u767a\u9054\u306e\u9045\u308c\u30fb\u6210\u9577\u306e\u3086\u3063\u304f\u308a\u3055\u30fb\u8efd\u5ea6\u306e\u8eab\u4f53\u7684\u7279\u5fb4<\/td><\/tr><tr><td>NIPT\u3067\u306e\u6271\u3044<\/td><td>\u57fa\u672cNIPT\u306e\u5bfe\u8c61\u5916<\/td><td>\u57fa\u672cNIPT\u306e\u5bfe\u8c61\u5916<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<p><a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/22828807\/\" target=\"_blank\" rel=\"noopener\">\u6b27\u5dde\u4eba\u985e\u907a\u4f1d\u5b66\u4f1a\u8a8c\u306b\u63b2\u8f09\u3055\u308c\u305f\u5831\u544a<\/a>\u306b\u3088\u308b\u3068\u300116p11.2\u306e\u91cd\u8907\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/adhd-genetics-symptoms-support\/\">\u6ce8\u610f\u6b20\u5982\u591a\u52d5\u75c7<\/a>\u30fb\u3066\u3093\u304b\u3093\u3078\u306e\u306a\u308a\u3084\u3059\u3055\u306a\u3069\u3068\u95a2\u9023\u3059\u308b\u3001\u6bd4\u8f03\u7684\u3088\u304f\u77e5\u3089\u308c\u305f\u5fae\u5c0f\u91cd\u8907\u75c7\u5019\u7fa4\u3067\u3059\u3002\u4e00\u65b9\u3001\u672c\u8a18\u4e8b\u3067\u6271\u304616q\u8fd1\u4f4d\u91cd\u8907\u306f\u3001\u5831\u544a\u4f8b\u305d\u306e\u3082\u306e\u304c\u5c11\u306a\u304f\u3001\u75c7\u72b6\u306e\u5168\u4f53\u50cf\u306f\u307e\u3060\u7814\u7a76\u306e\u9014\u4e0a\u306b\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u691c\u67fb\u7d50\u679c\u306e\u7d19\u9762\u306b\u300c16\u756a\u67d3\u8272\u4f53\u300d\u3068\u3060\u3051\u66f8\u304b\u308c\u3066\u3044\u308b\u3068\u3001p\u3068q\u306e\u9055\u3044\u306b\u6c17\u3065\u304d\u306b\u304f\u3044\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u79c1\u81ea\u8eab\u3001\u5916\u6765\u3067\u300c\u540c\u305816\u756a\u67d3\u8272\u4f53\u306a\u306e\u306b\u3001\u306a\u305c\u75c7\u72b6\u306e\u8aac\u660e\u304c\u9055\u3046\u306e\u3067\u3059\u304b\u300d\u3068\u8cea\u554f\u3092\u53d7\u3051\u305f\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u6c7a\u3081\u624b\u306f\u3001p(\u77ed\u8155)\u304bq(\u9577\u8155)\u304b\u3001\u8fd1\u4f4d\u304b\u9060\u4f4d\u304b\u3002\u610f\u5473\u304c\u5927\u304d\u304f\u5909\u308f\u308a\u307e\u3059\u306e\u3067\u3001\u62c5\u5f53\u533b\u306b\u78ba\u8a8d\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\"><\/p>\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u304a\u6bcd\u3055\u3093\u3068\u8d64\u3061\u3083\u3093\u306e\u305f\u3081\u306b<br \/><span>NIPT\u691c\u67fb<\/span>\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u8a73\u3057\u304f\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p><\/a>\n<\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E4%B8%BB%E3%81%AA%E7%97%87%E7%8A%B6\"><\/span><strong>3. \u4e3b\u306a\u75c7\u72b6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>16q\u8fd1\u4f4d\u91cd\u8907\u75c7\u5019\u7fa4\u306e\u75c7\u72b6\u306f\u3001\u91cd\u8907\u3057\u3066\u3044\u308b\u7bc4\u56f2\u3084\u3069\u306e\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u308b\u304b\u306b\u3088\u3063\u3066\u5927\u304d\u304f\u7570\u306a\u308a\u3001\u500b\u4eba\u5dee\u304c\u3068\u3066\u3082\u5927\u304d\u3044\u3053\u3068\u304c\u307e\u305a\u77e5\u3063\u3066\u304a\u304d\u305f\u3044\u30dd\u30a4\u30f3\u30c8\u3067\u3059\u3002<\/strong>\u307b\u3068\u3093\u3069\u75c7\u72b6\u304c\u306a\u304f\u5065\u5eb7\u306b\u904e\u3054\u3059\u65b9\u304b\u3089\u3001\u624b\u539a\u3044\u533b\u7642\u7684\u30b1\u30a2\u304c\u5fc5\u8981\u306a\u304a\u5b50\u3055\u307e\u307e\u3067\u3001\u5e45\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%99%BA%E9%81%94%E3%83%BB%E8%A1%8C%E5%8B%95%E3%81%AE%E7%89%B9%E5%BE%B4\"><\/span><strong>\u767a\u9054\u30fb\u884c\u52d5\u306e\u7279\u5fb4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u591a\u304f\u306e\u3054\u5bb6\u65cf\u304c\u4e00\u756a\u5fc3\u914d\u3055\u308c\u308b\u70b9\u3067\u3059\u3002\u524d\u8ff0\u306e\u75c7\u4f8b\u5831\u544a\u30fb\u6587\u732e\u30ec\u30d3\u30e5\u30fc\u3067\u306f\u3001\u767a\u9054\u306e\u9045\u308c\u30fb\u8a00\u8449\u306e\u9045\u308c\u30fb\u8efd\u5ea6\u306e\u5b66\u7fd2\u56f0\u96e3\u30fb\u884c\u52d5\u9762\u306e\u8ab2\u984c\u304c\u5171\u901a\u3057\u3066\u898b\u3089\u308c\u308b\u50be\u5411\u3068\u3057\u3066\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<figure class=\"wp-table-block\"><table><thead><tr><th>\u7279\u5fb4<\/th><th>\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u50be\u5411<\/th><\/tr><\/thead><tbody><tr><td>\u7cbe\u795e\u904b\u52d5\u767a\u9054\u9045\u6ede<\/td><td>\u9996\u306e\u3059\u308f\u308a\u30fb\u304a\u5ea7\u308a\u30fb\u6b69\u884c\u306a\u3069\u304c\u3086\u3063\u304f\u308a\u30da\u30fc\u30b9\u3067\u9032\u3080<\/td><\/tr><tr><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u30fb\u5b66\u7fd2\u306e\u56f0\u96e3<\/td><td>\u8efd\u5ea6\u304b\u3089\u4e2d\u7b49\u5ea6\u304c\u4e2d\u5fc3\u3068\u5831\u544a\u3059\u308b\u6587\u732e\u304c\u591a\u3044<\/td><\/tr><tr><td>\u8a00\u8449\u306e\u9045\u308c<\/td><td>\u7406\u89e3\u30fb\u767a\u8a9e\u3068\u3082\u306b\u9045\u308c\u304c\u898b\u3089\u308c\u3084\u3059\u3044<\/td><\/tr><tr><td>\u884c\u52d5\u9762\u306e\u7279\u6027<\/td><td>\u3053\u3060\u308f\u308a\u306e\u5f37\u3055\u3084\u843d\u3061\u7740\u304d\u306e\u306a\u3055\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308b<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<p>\u8a00\u8449\u3067\u306e\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u304c\u96e3\u3057\u3044\u6642\u671f\u3067\u3082\u3001\u30b8\u30a7\u30b9\u30c1\u30e3\u30fc\u3084\u8868\u60c5\u3067\u610f\u601d\u3092\u4f1d\u3048\u308b\u3053\u3068\u306f\u5341\u5206\u306b\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n<figure class=\"wp-block-image size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2026\/01\/22364560_s.webp\" alt=\"\u8d64\u3061\u3083\u3093\" class=\"wp-image-121716\"\/><\/figure>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%88%90%E9%95%B7%E3%83%BB%E6%A0%84%E9%A4%8A%E9%9D%A2%E3%81%AE%E8%AA%B2%E9%A1%8C\"><\/span><strong>\u6210\u9577\u30fb\u6804\u990a\u9762\u306e\u8ab2\u984c<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u4e73\u5e7c\u5150\u671f\u306b\u7279\u306b\u3054\u5bb6\u65cf\u304c\u82e6\u52b4\u3055\u308c\u3084\u3059\u3044\u30dd\u30a4\u30f3\u30c8\u3067\u3059\u3002\u8eab\u9577\u30fb\u4f53\u91cd\u306e\u5897\u3048\u65b9\u304c\u7de9\u3084\u304b\u3067\u3001\u30df\u30eb\u30af\u306e\u98f2\u307f\u304c\u5f31\u3044\u3001\u98f2\u307f\u8fbc\u307f\u304c\u4e0b\u624b\u3067\u3080\u305b\u3084\u3059\u3044\u3068\u3044\u3063\u305f\u6442\u98df\u30fb\u56a5\u4e0b\u306e\u8ab2\u984c\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u5410\u304d\u623b\u3057\u3084\u3059\u3055(\u80c3\u98df\u9053\u9006\u6d41)\u304c\u4f53\u91cd\u5897\u52a0\u4e0d\u826f\u306e\u4e00\u56e0\u306b\u306a\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%BA%AB%E4%BD%93%E7%9A%84%E3%81%AA%E7%89%B9%E5%BE%B4\"><\/span><strong>\u8eab\u4f53\u7684\u306a\u7279\u5fb4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u300c16q\u8fd1\u4f4d\u91cd\u8907\u7279\u6709\u306e\u9854\u3064\u304d\u300d\u3068\u3044\u3046\u307b\u3069\u5f37\u3044\u6c7a\u307e\u3063\u305f\u7279\u5fb4\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u75c7\u4f8b\u5831\u544a\u3067\u306f\u3001\u984d\u304c\u5e83\u3044\u30fb\u76ee\u304c\u3084\u3084\u96e2\u308c\u3066\u3044\u308b\u30fb\u9f3b\u7b4b\u304c\u5e73\u5766\u30fb\u3042\u3054\u304c\u5c0f\u3055\u3044\u30fb\u8033\u306e\u4f4d\u7f6e\u304c\u4f4e\u3044\u3068\u3044\u3063\u305f\u50be\u5411\u304c\u5171\u901a\u3057\u3066\u6319\u3052\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u591a\u304f\u306f\u6210\u9577\u3068\u3068\u3082\u306b\u76ee\u7acb\u305f\u306a\u304f\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u624b\u8db3\u3067\u306f\u3001\u6307\u304c\u7d30\u9577\u3044\u3001\u307e\u305f\u306f\u77ed\u3044\u3001\u7b4b\u7dca\u5f35\u306e\u4f4e\u4e0b(\u4f53\u306e\u67d4\u3089\u304b\u3055)\u306a\u3069\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\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%81%AB%E3%81%A4%E3%81%84%E3%81%A6%E5%A0%B1%E5%91%8A%E3%81%AB%E5%B9%85%E3%81%8C%E3%81%82%E3%82%8B%E9%A0%85%E7%9B%AE\"><\/span><strong>\u5408\u4f75\u75c7\u306b\u3064\u3044\u3066(\u5831\u544a\u306b\u5e45\u304c\u3042\u308b\u9805\u76ee)<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3059\u3079\u3066\u306e\u304a\u5b50\u3055\u307e\u306b\u5f53\u3066\u306f\u307e\u308b\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u300116q<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-partial-duplication-support\/\">\u90e8\u5206\u91cd\u8907<\/a>\u306e\u75c7\u4f8b\u5831\u544a\u5168\u4f53(\u8fd1\u4f4d\u304b\u3089\u9060\u4f4d\u307e\u3067)\u3067\u306f\u3001\u5fc3\u75be\u60a3(\u5fc3\u623f\u4e2d\u9694\u6b20\u640d\u30fb\u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d\u306a\u3069)\u3001\u53e3\u84cb\u88c2\u3001\u3066\u3093\u304b\u3093\u3001\u611f\u67d3\u75c7\u3078\u306e\u304b\u304b\u308a\u3084\u3059\u3055\u304c\u6ce8\u610f\u3059\u3079\u304d\u5408\u4f75\u75c7\u3068\u3057\u3066\u6319\u3052\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u8fd1\u4f4d16q11-13\u306b\u9650\u5b9a\u3057\u305f\u5831\u544a\u3067\u306f\u3001\u3053\u3046\u3057\u305f\u5408\u4f75\u75c7\u306e\u983b\u5ea6\u306f\u5fc5\u305a\u3057\u3082\u9ad8\u304f\u306a\u3044\u3068\u3055\u308c\u3001\u500b\u4eba\u5dee\u304c\u5927\u304d\u3044\u70b9\u3092\u3042\u3089\u305f\u3081\u3066\u5f37\u8abf\u3057\u3066\u304a\u304d\u307e\u3059\u3002<\/p>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\"><\/p>\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u304a\u6bcd\u3055\u3093\u3068\u8d64\u3061\u3083\u3093\u306e\u305f\u3081\u306b<br \/><span>NIPT\u691c\u67fb<\/span>\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u8a73\u3057\u304f\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p><\/a>\n<\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E5%8E%9F%E5%9B%A0%E3%81%A8%E9%81%BA%E4%BC%9D%E5%BD%A2%E5%BC%8F\"><\/span><strong>4. \u539f\u56e0\u3068\u907a\u4f1d\u5f62\u5f0f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u3054\u5bb6\u65cf\u304c\u300c\u306a\u305c\u300d\u3068\u60a9\u307f\u3001\u6642\u306b\u3054\u81ea\u8eab\u3092\u8cac\u3081\u3066\u3057\u307e\u3046\u306e\u304c\u539f\u56e0\u306b\u3064\u3044\u3066\u3067\u3059\u3002\u58f0\u3092\u5927\u306b\u3057\u3066\u304a\u4f1d\u3048\u3057\u305f\u3044\u306e\u306f\u3001\u3054\u4e21\u89aa\u306e\u80b2\u3066\u65b9\u3084\u598a\u5a20\u4e2d\u306e\u904e\u3054\u3057\u65b9\u304c\u539f\u56e0\u3067\u306f\u306a\u3044\u3068\u3044\u3046\u3053\u3068\u3067\u3059\u3002<\/strong><\/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\"><\/span><strong>\u7a81\u7136\u5909\u7570(de novo\u5909\u7570)<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u524d\u8ff0\u306e\u75c7\u4f8b\u5831\u544a\u3067\u306f\u3001\u5831\u544a\u3055\u308c\u305f16q12.1-q21\u9818\u57df\u306e\u91cd\u8907\u306f9.92Mb(\u30e1\u30ac\u30d9\u30fc\u30b9)\u306e\u30bf\u30f3\u30c7\u30e0\u578b\u91cd\u8907\u3067\u3001\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u306b\u306f\u898b\u3089\u308c\u306a\u3044\u300cde novo(\u30c7\u30fb\u30ce\u30dc)\u300d\u306e\u7a81\u767a\u7684\u306a\u5909\u5316\u3067\u3057\u305f\u3002\u7cbe\u5b50\u3084\u5375\u5b50\u304c\u4f5c\u3089\u308c\u308b\u904e\u7a0b\u3001\u3042\u308b\u3044\u306f\u53d7\u7cbe\u5f8c\u3054\u304f\u65e9\u3044\u6bb5\u968e\u306e\u7d30\u80de\u5206\u88c2\u3067\u3001\u5076\u7136\u30b3\u30d4\u30fc\u304c\u5897\u3048\u3066\u3057\u307e\u3063\u305f\u3082\u306e\u3067\u3059\u3002\u9632\u3050\u3053\u3068\u306f\u73fe\u4ee3\u306e\u533b\u5b66\u3067\u306f\u4e0d\u53ef\u80fd\u3067\u3001\u81ea\u7136\u306b\u8d77\u3053\u308a\u3046\u308b\u78ba\u7387\u7684\u306a\u73fe\u8c61\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%A6%AA%E3%81%AE%E6%9F%93%E8%89%B2%E4%BD%93%E8%BB%A2%E5%BA%A7%E5%AE%B6%E6%97%8F%E6%80%A7\"><\/span><strong>\u89aa\u306e\u67d3\u8272\u4f53\u8ee2\u5ea7(\u5bb6\u65cf\u6027)<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u524d\u8ff0\u306e\u6587\u732e\u30ec\u30d3\u30e5\u30fc\u3067\u306f\u300121\u4f8b\u4e2d7\u4f8b\u304c\u5bb6\u65cf\u6027(\u89aa\u304b\u3089\u53d7\u3051\u7d99\u3044\u3060\u30b1\u30fc\u30b9)\u3060\u3063\u305f\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\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\u3064\u5834\u5408\u3001\u907a\u4f1d\u60c5\u5831\u306e\u91cf\u81ea\u4f53\u306f\u5909\u308f\u3089\u306a\u3044\u305f\u3081\u89aa\u5fa1\u3055\u3093\u3054\u81ea\u8eab\u306f\u5065\u5eb7\u3067\u3059\u304c\u3001\u304a\u5b50\u3055\u307e\u306b\u53d7\u3051\u6e21\u3059\u969b\u306b\u30d0\u30e9\u30f3\u30b9\u304c\u5d29\u308c\u3066\u91cd\u8907\u304c\u751f\u3058\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u6b21\u306e\u304a\u5b50\u3055\u307e\u3092\u8003\u3048\u3066\u3044\u308b\u5834\u5408\u306f\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u78ba\u8a8d\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%AA%E3%81%9C%E7%97%87%E7%8A%B6%E3%81%8C%E5%87%BA%E3%82%8B%E3%81%AE%E3%81%8B\"><\/span><strong>\u306a\u305c\u75c7\u72b6\u304c\u51fa\u308b\u306e\u304b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>16q11.2-q13\u9818\u57df\u306b\u306f\u3001\u8133\u306e\u767a\u9054\u3084\u4f53\u306e\u5f62\u6210\u306b\u95a2\u308f\u308b\u907a\u4f1d\u5b50\u304c\u8907\u6570\u542b\u307e\u308c\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u901a\u5e38\u306f\u300c2\u3064\u5206\u300d\u306e\u6307\u4ee4\u3067\u8db3\u308a\u308b\u3068\u3053\u308d\u306b\u300c3\u3064\u5206\u300d\u306e\u6307\u4ee4\u304c\u6765\u308b\u3053\u3068\u3067\u3001\u7d30\u80de\u306e\u50cd\u304d\u304c\u4e71\u308c\u3001\u6210\u9577\u306e\u30d0\u30e9\u30f3\u30b9\u304c\u5d29\u308c\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059(\u907a\u4f1d\u5b50\u91cf\u52b9\u679c)\u3002\u7279\u5b9a\u306e\u5358\u4e00\u907a\u4f1d\u5b50\u304c\u539f\u56e0\u306e\u3059\u3079\u3066\u3092\u8aac\u660e\u3059\u308b\u308f\u3051\u3067\u306f\u306a\u304f\u3001\u542b\u307e\u308c\u308b\u907a\u4f1d\u5b50\u7fa4\u306e\u7d44\u307f\u5408\u308f\u305b\u306b\u3088\u3063\u3066\u75c7\u72b6\u304c\u5909\u308f\u3063\u3066\u304f\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\"><\/p>\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u304a\u6bcd\u3055\u3093\u3068\u8d64\u3061\u3083\u3093\u306e\u305f\u3081\u306b<br \/><span>NIPT\u691c\u67fb<\/span>\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u8a73\u3057\u304f\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p><\/a>\n<\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"5_%E8%A8%BA%E6%96%AD%E3%81%A8%E6%A4%9C%E6%9F%BB\"><\/span><strong>5. \u8a3a\u65ad\u3068\u691c\u67fb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u767a\u9054\u306e\u9045\u308c\u3084\u8eab\u4f53\u7684\u7279\u5fb4\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<\/strong><\/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%83%9E%E3%82%A4%E3%82%AF%E3%83%AD%E3%82%A2%E3%83%AC%E3%82%A4%E6%A4%9C%E6%9F%BBCMA\"><\/span><strong>\u67d3\u8272\u4f53\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\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\u5f93\u6765\u306e\u9855\u5fae\u93e1\u691c\u67fb(G\u5206\u67d3\u6cd5)\u3067\u306f\u5c0f\u3055\u306a\u91cd\u8907\u304c\u898b\u9003\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3057\u305f\u304c\u3001<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\u300116q\u306e\u3069\u306e\u7bc4\u56f2\u304c\u3069\u308c\u3060\u3051\u5897\u3048\u3066\u3044\u308b\u304b\u3092\u7cbe\u5bc6\u306b\u628a\u63e1\u3067\u304d\u307e\u3059\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u3068<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u691c\u67fb\u306e\u95a2\u4fc2\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u7f8a\u6c34\u691c\u67fb\u306b\u3088\u308b\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u691c\u67fb\u306e\u89e3\u8aac\u8a18\u4e8b<\/a>\u3067\u8a73\u3057\u304f\u6574\u7406\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%B8%A1%E8%A6%AA%E3%81%AE%E6%9F%93%E8%89%B2%E4%BD%93%E6%A4%9C%E6%9F%BB%E3%81%A8%E7%94%BB%E5%83%8F%E6%A4%9C%E6%9F%BB\"><\/span><strong>\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u691c\u67fb\u3068\u753b\u50cf\u691c\u67fb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u4e21\u89aa\u306e\u8840\u6db2\u3092\u8abf\u3079\u308b\u3053\u3068\u3067\u3001de novo\u306a\u306e\u304b\u5bb6\u65cf\u6027\u306a\u306e\u304b\u3092\u5224\u5225\u3067\u304d\u307e\u3059\u3002\u3042\u308f\u305b\u3066\u3001\u5fc3\u81d3\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u5fc3\u75be\u60a3\u306e\u6709\u7121\u3092\u3001\u982d\u90e8MRI\u3067\u8133\u306e\u69cb\u9020\u3092\u78ba\u8a8d\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u30df\u30eb\u30af\u306e\u98f2\u307f\u304c\u60aa\u3044\u5834\u5408\u306f\u3001\u5b89\u5168\u306b\u98f2\u307f\u8fbc\u3081\u3066\u3044\u308b\u304b\u3092\u8abf\u3079\u308b\u56a5\u4e0b\u6a5f\u80fd\u691c\u67fb\u3092\u884c\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\"><\/p>\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u304a\u6bcd\u3055\u3093\u3068\u8d64\u3061\u3083\u3093\u306e\u305f\u3081\u306b<br \/><span>NIPT\u691c\u67fb<\/span>\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u8a73\u3057\u304f\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p><\/a>\n<\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"6_%E5%87%BA%E7%94%9F%E5%89%8D%E8%A8%BA%E6%96%AD%E3%83%BBNIPT%E3%81%A8%E3%81%AE%E9%96%A2%E4%BF%82\"><\/span><strong>6. \u51fa\u751f\u524d\u8a3a\u65ad\u30fbNIPT\u3068\u306e\u95a2\u4fc2<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>16q\u8fd1\u4f4d\u91cd\u8907\u3092\u542b\u3080\u5fae\u5c0f\u91cd\u8907\u306f\u3001\u6a19\u6e96\u7684\u306aNIPT\u306e\u5bfe\u8c61\u306b\u306f\u542b\u307e\u308c\u305a\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u30fb\u91cd\u8907\u307e\u3067\u5bfe\u8c61\u3092\u5e83\u3052\u305f\u62e1\u5927\u691c\u67fb\u3067\u3082\u3001\u540d\u6307\u3057\u3067\u691c\u67fb\u5bfe\u8c61\u306b\u542b\u3080\u4f1a\u793e\u306f\u9650\u3089\u308c\u308b\u3054\u304f\u307e\u308c\u306a\u9818\u57df\u3067\u3059\u3002<\/strong><\/p>\n\n\n\n<p>\u4e00\u822c\u7684\u306a\u57fa\u672cNIPT\u304c\u8abf\u3079\u308b\u306e\u306f\u300121\u30fb18\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/patau-syndrome\/\">13\u30c8\u30ea\u30bd\u30df\u30fc<\/a>\u3068\u3044\u3046\u67d3\u8272\u4f53\u306e\u300c\u6570\u300d\u306e\u5909\u5316\u304c\u4e2d\u5fc3\u3067\u3059\u3002\u4eca\u56de\u306e\u91cd\u8907\u306f\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u300c\u5897\u3048\u308b\u300d\u5909\u5316\u3067\u306f\u3042\u308a\u307e\u3059\u304c\u3001\u7bc4\u56f2\u304c\u6570Mb\u898f\u6a21\u3068\u5c0f\u3055\u304f\u3001\u5831\u544a\u4f8b\u81ea\u4f53\u304c21\u4f8b\u3068\u304d\u308f\u3081\u3066\u5c11\u306a\u3044\u305f\u3081\u3001\u5bfe\u8c61\u306b\u542b\u3081\u308b\u304b\u3069\u3046\u304b\u306f\u691c\u67fb\u4f1a\u793e\u3084\u30d7\u30e9\u30f3\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u307e\u3059\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/22q11-2-deletion-syndrome\/\">22q11.2\u6b20\u5931\u75c7\u5019\u7fa4<\/a>\u306e\u3088\u3046\u306b\u6bd4\u8f03\u7684\u983b\u5ea6\u306e\u9ad8\u3044<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u30fb\u91cd\u8907\u3092\u5bfe\u8c61\u306b\u542b\u3080\u62e1\u5927\u30d7\u30e9\u30f3\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u3054\u81ea\u8eab\u304c\u691c\u8a0e\u3057\u3066\u3044\u308b\u30d7\u30e9\u30f3\u306e\u691c\u67fb\u5bfe\u8c61\u7bc4\u56f2\u306f\u4e8b\u524d\u306b\u78ba\u8a8d\u3057\u3066\u304a\u304f\u3068\u5b89\u5fc3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u79c1\u305f\u3061\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30afNIPT\u306b\u3082\u300c\u62e1\u5927\u691c\u67fb\u3067\u805e\u3044\u305f\u3053\u3068\u306e\u306a\u3044\u9818\u57df\u304c\u5019\u88dc\u306b\u6319\u304c\u3063\u305f\u3089\u3069\u3046\u3059\u308c\u3070\u3088\u3044\u304b\u300d\u3068\u3044\u3046\u3054\u76f8\u8ac7\u304c\u5bc4\u305b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u307e\u305a\u77e5\u3063\u3066\u3044\u305f\u3060\u304d\u305f\u3044\u306e\u306f\u3001<strong>NIPT\u306f\u3042\u304f\u307e\u3067\u975e\u78ba\u5b9a\u7684\u306a\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u691c\u67fb<\/strong>\u3060\u3068\u3044\u3046\u70b9\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u516c\u76ca\u793e\u56e3\u6cd5\u4eba\u65e5\u672c\u7523\u79d1\u5a66\u4eba\u79d1\u5b66\u4f1a\u306e<a href=\"https:\/\/www.jsog.or.jp\/news\/pdf\/NIPT_kaiteishishin.pdf\" target=\"_blank\" rel=\"noopener\">NIPT\u306b\u95a2\u3059\u308b\u6307\u91dd<\/a>\u3067\u3082\u3001NIPT\u306e\u7d50\u679c\u306f\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0(\u975e\u78ba\u5b9a\u7684)\u691c\u67fb\u306e\u7bc4\u56f2\u306b\u3068\u3069\u307e\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u78ba\u5b9a\u8a3a\u65ad\u306b\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u306a\u3069\u306e\u4fb5\u8972\u7684\u306a\u691c\u67fb\u304c\u5fc5\u8981\u3067\u3059\u3002\u5fae\u5c0f\u91cd\u8907\u306f\u5bfe\u8c61\u7bc4\u56f2\u304c\u5e83\u304f\u306a\u308b\u307b\u3069\u3001\u967d\u6027\u3067\u3042\u3063\u3066\u3082\u5b9f\u969b\u306b\u75be\u60a3\u3092\u6709\u3059\u308b\u5272\u5408(\u967d\u6027\u7684\u4e2d\u7387)\u304c\u4e0b\u304c\u308a\u3084\u3059\u3044\u50be\u5411\u3082\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002NIPT\u3067\u967d\u6027\u6240\u898b\u304c\u51fa\u305f\u5834\u5408\u306f\u3001\u307e\u305a\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u7d50\u679c\u306e\u610f\u5473\u3092\u78ba\u8a8d\u3057\u3001\u305d\u306e\u4e0a\u3067<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u306b\u3088\u308b\u67d3\u8272\u4f53<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u691c\u67fb\u3092\u53d7\u3051\u308b\u304b\u3069\u3046\u304b\u3092\u5224\u65ad\u3059\u308b\u6d41\u308c\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\"><\/p>\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u304a\u6bcd\u3055\u3093\u3068\u8d64\u3061\u3083\u3093\u306e\u305f\u3081\u306b<br \/><span>NIPT\u691c\u67fb<\/span>\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u8a73\u3057\u304f\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p><\/a>\n<\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"7_%E6%B2%BB%E7%99%82%E3%81%A8%E7%AE%A1%E7%90%86_%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>7. \u6cbb\u7642\u3068\u7ba1\u7406:\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><strong>\u5897\u3048\u3066\u3044\u308b\u67d3\u8272\u4f53\u3092\u53d6\u308a\u9664\u304f\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>\u305d\u308c\u305e\u308c\u306e\u75c7\u72b6\u306b\u5bfe\u3059\u308b\u5bfe\u75c7\u7642\u6cd5\u3068\u3001\u7642\u80b2\u306b\u3088\u3063\u3066\u751f\u6d3b\u306e\u8cea(QOL)\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\u6b20\u304b\u305b\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7406\u5b66\u7642\u6cd5(PT):<\/strong> \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><strong>\u4f5c\u696d\u7642\u6cd5(OT):<\/strong> \u624b\u5148\u306e\u4e0d\u5668\u7528\u3055\u3092\u6539\u5584\u3057\u3001\u30b9\u30d7\u30fc\u30f3\u3092\u6301\u3064\u306a\u3069\u306e\u65e5\u5e38\u751f\u6d3b\u52d5\u4f5c\u3092\u7df4\u7fd2\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u8074\u899a\u7642\u6cd5(ST):<\/strong> \u8a00\u8449\u306e\u7406\u89e3\u30fb\u8868\u51fa\u3092\u4fc3\u3057\u3001\u7d75\u30ab\u30fc\u30c9\u3084\u30b8\u30a7\u30b9\u30c1\u30e3\u30fc\u3067\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u306e\u571f\u53f0\u3092\u4f5c\u308a\u307e\u3059\u3002\u6442\u98df\u56a5\u4e0b\u306e\u8a13\u7df4\u3082\u3042\u308f\u305b\u3066\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u767a\u9054\u306e\u898b\u901a\u3057\u306b\u3064\u3044\u3066\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-beyond-down-syndrome-intellectual-disability\/\">NIPT\u3068\u77e5\u7684\u969c\u5bb3\u306e\u9650\u754c\u306b\u3064\u3044\u3066\u306e\u8a18\u4e8b<\/a>\u3082\u3042\u308f\u305b\u3066\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>\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\u89aa\u5fa1\u3055\u3093\u306b\u3068\u3063\u3066\u5927\u304d\u306a\u30b9\u30c8\u30ec\u30b9\u3067\u3059\u3002\u533b\u5e2b\u3084\u6804\u990a\u58eb\u3068\u76f8\u8ac7\u3057\u3001\u9ad8\u30ab\u30ed\u30ea\u30fc\u306e\u30df\u30eb\u30af\u3084\u6804\u990a\u5264\u3092\u4f7f\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\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(\u7d4c\u9f3b\u7d4c\u7ba1\u6804\u990a)\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<\/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%81%AE%E7%AE%A1%E7%90%86\"><\/span><strong>\u5408\u4f75\u75c7\u306e\u7ba1\u7406<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5fc3\u75be\u60a3\u3084\u53e3\u84cb\u88c2\u306b\u306f\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u9069\u5207\u306a\u6642\u671f\u306e\u624b\u8853\u304c\u691c\u8a0e\u3055\u308c\u307e\u3059\u3002\u611f\u67d3\u75c7\u3092\u3053\u3058\u3089\u305b\u3084\u3059\u3044\u5834\u5408\u306f\u3001\u624b\u6d17\u3044\u3084\u4e88\u9632\u63a5\u7a2e\u306e\u30b9\u30b1\u30b8\u30e5\u30fc\u30eb\u7ba1\u7406\u304c\u5927\u5207\u3067\u3059\u3002\u3066\u3093\u304b\u3093\u767a\u4f5c\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u6297\u3066\u3093\u304b\u3093\u85ac\u3067\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3057\u307e\u3059\u3002<\/p>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\"><\/p>\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u304a\u6bcd\u3055\u3093\u3068\u8d64\u3061\u3083\u3093\u306e\u305f\u3081\u306b<br \/><span>NIPT\u691c\u67fb<\/span>\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u8a73\u3057\u304f\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p><\/a>\n<\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"8_%E4%BA%88%E5%BE%8C_%E7%97%87%E4%BE%8B%E3%81%8B%E3%82%89%E3%82%8F%E3%81%8B%E3%82%8B%E5%80%8B%E4%BA%BA%E5%B7%AE\"><\/span><strong>8. \u4e88\u5f8c:\u75c7\u4f8b\u304b\u3089\u308f\u304b\u308b\u500b\u4eba\u5dee<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u5831\u544a\u4f8b\u304c\u304d\u308f\u3081\u3066\u5c11\u306a\u3044\u305f\u3081\u9577\u671f\u7684\u306a\u898b\u901a\u3057\u3092\u65ad\u5b9a\u3059\u308b\u3053\u3068\u306f\u3067\u304d\u307e\u305b\u3093\u304c\u3001\u75c7\u4f8b\u5831\u544a\u304b\u3089\u306f\u3001\u6210\u9577\u3068\u3068\u3082\u306b\u751f\u6d3b\u306e\u8cea\u3092\u5927\u304d\u304f\u9ad8\u3081\u3089\u308c\u308b\u3053\u3068\u304c\u308f\u304b\u3063\u3066\u3044\u307e\u3059\u3002<\/strong><\/p>\n\n\n\n<p>\u524d\u8ff0\u306e\u75c7\u4f8b\u5831\u544a\u3067\u306f\u300116q12.1-q21\u9818\u57df\u306e\u91cd\u8907\u3092\u6301\u3064\u5973\u5150\u304c18\u6b73\u306e\u6642\u70b9\u3067\u3001\u8efd\u5ea6\u306e\u5b66\u7fd2\u56f0\u96e3\u306f\u3042\u308b\u3082\u306e\u306e\u6d41\u66a2\u306a\u4f1a\u8a71\u3068\u826f\u597d\u306a\u793e\u4f1a\u6027\u3092\u8eab\u306b\u3064\u3051\u3001\u7279\u5225\u652f\u63f4\u6559\u80b2\u306e\u30d7\u30ed\u30b0\u30e9\u30e0\u306b\u901a\u3044\u306a\u304c\u3089\u751f\u6d3b\u3057\u3066\u3044\u308b\u3068\u8a18\u9332\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3059\u3079\u3066\u306e\u30b1\u30fc\u30b9\u304c\u540c\u3058\u7d4c\u904e\u3092\u305f\u3069\u308b\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u6210\u9577\u306e\u30da\u30fc\u30b9\u304c\u3086\u3063\u304f\u308a\u3067\u3082\u7740\u5b9f\u306b\u767a\u9054\u304c\u9032\u3080\u5b9f\u4f8b\u3068\u3057\u3066\u53c2\u8003\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u79c1\u304c\u3053\u308c\u307e\u3067\u306e\u8a3a\u7642\u306e\u4e2d\u3067\u611f\u3058\u308b\u306e\u306f\u3001\u8840\u6db2\u691c\u67fb\u3084\u753b\u50cf\u691c\u67fb\u3067\u5408\u4f75\u75c7\u306e\u6709\u7121\u3092\u65e9\u3081\u306b\u628a\u63e1\u3067\u304d\u305f\u65b9\u307b\u3069\u3001\u305d\u306e\u5f8c\u306e\u7642\u80b2\u306e\u8a08\u753b\u3092\u7acb\u3066\u3084\u3059\u3044\u3068\u3044\u3046\u3053\u3068\u3067\u3059\u3002\u9375\u306f\u65e9\u671f\u767a\u898b\u3068\u65e9\u671f\u306e\u7642\u80b2\u958b\u59cb\u3002\u4e16\u754c\u7684\u306b\u3082\u75c7\u4f8b\u306e\u84c4\u7a4d\u304c\u7d9a\u3044\u3066\u3044\u308b\u6bb5\u968e\u306e\u305f\u3081\u3001\u62c5\u5f53\u533b\u3068\u7d4c\u904e\u3092\u78ba\u8a8d\u3057\u306a\u304c\u3089\u898b\u901a\u3057\u3092\u7acb\u3066\u3066\u3044\u304f\u3053\u3068\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\"><\/p>\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u304a\u6bcd\u3055\u3093\u3068\u8d64\u3061\u3083\u3093\u306e\u305f\u3081\u306b<br \/><span>NIPT\u691c\u67fb<\/span>\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u8a73\u3057\u304f\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p><\/a>\n<\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"9_%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%E3%81%A8%E3%81%94%E5%AE%B6%E6%97%8F%E3%81%B8%E3%81%AE%E6%94%AF%E6%8F%B4\"><\/span><strong>9. \u65e5\u3005\u306e\u751f\u6d3b\u3067\u306e\u5de5\u592b\u3068\u3054\u5bb6\u65cf\u3078\u306e\u652f\u63f4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>16q\u8fd1\u4f4d\u91cd\u8907\u75c7\u5019\u7fa4\u306e\u304a\u5b50\u3055\u307e\u3068\u306e\u751f\u6d3b\u3067\u3001\u30d2\u30f3\u30c8\u306b\u306a\u308b\u30dd\u30a4\u30f3\u30c8\u3092\u307e\u3068\u3081\u307e\u3057\u305f\u3002<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u300c\u98df\u3079\u308b\u300d\u3092\u697d\u3057\u3044\u6642\u9593\u306b:<\/strong> \u300c\u4e00\u53e3\u3067\u3082\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\u307e\u3057\u3087\u3046\u3002<\/li>\n\n\n\n<li><strong>\u30b9\u30e2\u30fc\u30eb\u30b9\u30c6\u30c3\u30d7\u3067\u6bd4\u3079\u308b:<\/strong> \u6bcd\u5b50\u624b\u5e33\u306e\u300c\u306f\u3044\u30fb\u3044\u3044\u3048\u300d\u3067\u306f\u306a\u304f\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\u3002\u305d\u306e\u5c0f\u3055\u306a\u5909\u5316\u3053\u305d\u304c\u6210\u9577\u306e\u8a3c\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u611f\u67d3\u75c7\u4e88\u9632:<\/strong> \u51ac\u5834\u306f\u7279\u306b\u3001\u5bb6\u65cf\u5168\u54e1\u3067\u624b\u6d17\u3044\u30fb\u3046\u304c\u3044\u3092\u5fb9\u5e95\u3057\u307e\u3057\u3087\u3046\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u8a3a\u65ad\u540d\u3092\u805e\u3044\u305f\u76f4\u5f8c\u3001\u300c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosomal-abnormality\/\">\u67d3\u8272\u4f53\u7570\u5e38<\/a>\u300d\u3068\u3044\u3046\u8a00\u8449\u306e\u91cd\u307f\u306b\u62bc\u3057\u3064\u3076\u3055\u308c\u305d\u3046\u306b\u306a\u3063\u3066\u3044\u308b\u3054\u5bb6\u65cf\u3082\u591a\u3044\u306f\u305a\u3067\u3059\u3002\u3057\u304b\u3057\u300116q\u8fd1\u4f4d\u91cd\u8907\u75c7\u5019\u7fa4\u306e\u304a\u5b50\u3055\u307e\u305f\u3061\u306f\u3001\u4f53\u306f\u5c0f\u3055\u304f\u3066\u3082\u9a5a\u304f\u307b\u3069\u306e\u751f\u547d\u529b\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u3002\u767a\u9054\u306e\u30da\u30fc\u30b9\u306f\u3086\u3063\u304f\u308a\u3067\u3082\u3001\u5fc5\u305a\u6210\u9577\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4e00\u4eba\u3067\u62b1\u3048\u8fbc\u3080\u5fc5\u8981\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u533b\u5e2b\u3001\u770b\u8b77\u5e2b\u3001\u7642\u6cd5\u58eb\u3001\u5fc3\u7406\u58eb\u3001\u30bd\u30fc\u30b7\u30e3\u30eb\u30ef\u30fc\u30ab\u30fc\u3002\u304a\u5b50\u3055\u307e\u3092\u652f\u3048\u308b\u300c\u30c1\u30fc\u30e0\u300d\u3092\u4f5c\u308b\u305f\u3081\u306e\u5c02\u9580\u5bb6\u304c\u5468\u308a\u306b\u3044\u307e\u3059\u3002\u300c\u30df\u30eb\u30af\u3092\u98f2\u307e\u306a\u304f\u3066\u8f9b\u3044\u300d\u300c\u3069\u3046\u63a5\u3057\u3066\u3044\u3044\u304b\u5206\u304b\u3089\u306a\u3044\u300d\u3068\u3001\u6b63\u76f4\u306b\u5410\u304d\u51fa\u3057\u3066\u304f\u3060\u3055\u3044\u3002\u8fd1\u6240\u3067\u540c\u3058\u75c5\u6c17\u306e\u304a\u5b50\u3055\u307e\u3092\u898b\u3064\u3051\u308b\u306e\u306f\u96e3\u3057\u304f\u3066\u3082\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3084\u5e0c\u5c11\u75be\u60a3\u5bb6\u65cf\u3069\u3046\u3057\u306e\u3064\u306a\u304c\u308a\u306f\u6d3b\u7528\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%AC%A1%E3%81%AB%E3%81%99%E3%81%B9%E3%81%8D%E3%81%93%E3%81%A8%EF%BC%9A%E3%81%BE%E3%81%9A%E7%A2%BA%E8%AA%8D%E3%81%97%E3%81%9F%E3%81%843%E3%81%A4%E3%81%AE%E3%83%9D%E3%82%A4%E3%83%B3%E3%83%88\"><\/span><strong>\u6b21\u306b\u3059\u3079\u304d\u3053\u3068\uff1a\u307e\u305a\u78ba\u8a8d\u3057\u305f\u30443\u3064\u306e\u30dd\u30a4\u30f3\u30c8<\/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\u3057\u3066\u304a\u304d\u305f\u3044\u5177\u4f53\u7684\u306a\u30dd\u30a4\u30f3\u30c8\u3092\u6574\u7406\u3057\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>\u91cd\u8907\u7bc4\u56f2\u306e\u8a73\u7d30:<\/strong> \u300c\u5177\u4f53\u7684\u306b\u3069\u306e\u9818\u57df(q11.2\u30fbq12\u30fbq13\u306e\u3069\u3053\u307e\u3067)\u304c\u5897\u3048\u3066\u3044\u307e\u3059\u304b\u300d\u3068\u805e\u3044\u3066\u307f\u307e\u3057\u3087\u3046\u3002<\/li>\n\n\n\n<li><strong>\u5408\u4f75\u75c7\u306e\u30c1\u30a7\u30c3\u30af:<\/strong> \u300c\u5fc3\u81d3\u306e\u30a8\u30b3\u30fc\u691c\u67fb\u3001\u982d\u90e8MRI\u3001\u8074\u529b\u691c\u67fb\u306f\u6e08\u3093\u3067\u3044\u307e\u3059\u304b\u300d\u3068\u78ba\u8a8d\u3057\u307e\u3057\u3087\u3046\u3002<\/li>\n\n\n\n<li><strong>\u7642\u80b2\u306e\u958b\u59cb:<\/strong> \u304a\u4f4f\u307e\u3044\u306e\u81ea\u6cbb\u4f53\u306e\u798f\u7949\u7a93\u53e3(\u969c\u5bb3\u798f\u7949\u8ab2\u306a\u3069)\u3067\u3001\u65e9\u671f\u7642\u80b2(\u5150\u7ae5\u767a\u9054\u652f\u63f4)\u3092\u53d7\u3051\u308b\u305f\u3081\u306e\u300c\u53d7\u7d66\u8005\u8a3c\u300d\u306e\u53d6\u5f97\u306b\u3064\u3044\u3066\u805e\u3044\u3066\u307f\u307e\u3057\u3087\u3046\u3002<\/li>\n<\/ol>\n\n\n\n\n\n<p>\u4ed6\u306e\u67d3\u8272\u4f53\u91cd\u8907\u30fb\u6b20\u5931\u75c7\u5019\u7fa4\u306b\u3064\u3044\u3066\u3082\u6c17\u306b\u306a\u308b\u65b9\u306f\u3001\u3042\u308f\u305b\u3066\u3054\u78ba\u8a8d\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/chromosome-16p12-2-p11-2-duplication-syndrome-guide\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">16p12.2-p11.2\u91cd\u8907\u75c7\u5019\u7fa4 <\/div>\n          <div class=\"blog-card-excerpt\">\u67d3\u8272\u4f5316p12.2-p11.2\u91cd\u8907\u75c7\u5019\u7fa4\u3068\u8a3a\u65ad\u3055\u308c\u305f\u3054\u5bb6\u65cf\u3078\u3002\u3053\u306e\u5fae\u7d30\u91cd\u8907\u306e\u7279\u5fb4\u3067\u3042\u308b\u300c\u75c7\u72b6\u306e\u500b\u4eba\u5dee\u300d\u3084\u3001\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\uff08ASD\uff09\u30fb\u767a...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u30fb\u91cd\u8907\u5168\u822c\u304c\u5fc3\u914d\u306a\u65b9\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-microdeletion-risks\/\">\u67d3\u8272\u4f53\u306e\u5fae\u7d30\u306a\u7570\u5e38\u304c\u3082\u305f\u3089\u3059\u30ea\u30b9\u30af\u306b\u3064\u3044\u3066\u306e\u8a18\u4e8b<\/a>\u3082\u53c2\u8003\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<div class=\"wp-block-buttons is-content-justification-center is-layout-flex wp-container-core-buttons-is-layout-16018d1d wp-block-buttons-is-layout-flex\">\n<div class=\"wp-block-button\"><a class=\"wp-block-button__link wp-element-button\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/line-registration\/\" target=\"_blank\" rel=\"noopener\">LINE\u3067\u7121\u6599\u76f8\u8ac7\u3059\u308b<\/a><\/div>\n<\/div>\n\n\n\n<p>\u6b21\u306e\u304a\u5b50\u3055\u307e\u306b\u5411\u3051\u3066NIPT\u3092\u691c\u8a0e\u3059\u308b\u5834\u5408\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u30fb\u91cd\u8907\u3092\u3069\u3053\u307e\u3067\u5bfe\u8c61\u306b\u542b\u3080\u304b\u3067\u30d7\u30e9\u30f3\u306e\u5185\u5bb9\u304c\u5909\u308f\u308a\u307e\u3059\u3002\u3054\u81ea\u8eab\u306b\u5408\u3046\u30d7\u30e9\u30f3\u304c\u5206\u304b\u3089\u306a\u3044\u5834\u5408\u306f\u3001<strong><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/plan-finder\/\">\u30d7\u30e9\u30f3\u8a3a\u65ad<\/a><\/strong>\u3092\u8a66\u3057\u3066\u307f\u3066\u304f\u3060\u3055\u3044\u3002\u304a\u96fb\u8a71\u3067\u306e\u3054\u76f8\u8ac7\u3082\u53d7\u3051\u4ed8\u3051\u3066\u3044\u307e\u3059\u3002<a href=\"tel:0120169629\">0120-169-629<\/a>\u307e\u3067\u304a\u6c17\u8efd\u306b\u304a\u554f\u3044\u5408\u308f\u305b\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<div class=\"wp-block-buttons is-content-justification-center is-layout-flex wp-container-core-buttons-is-layout-16018d1d wp-block-buttons-is-layout-flex\">\n<div class=\"wp-block-button\"><a class=\"wp-block-button__link wp-element-button\" href=\"https:\/\/mypage-nipt-reservation.hiro-clinic.or.jp\/registration\" target=\"_blank\" rel=\"noopener\">NIPT\u306e\u4e88\u7d04\u306f\u3053\u3061\u3089<\/a><\/div>\n\n\n\n<div class=\"wp-block-button is-style-outline is-style-outline--1\"><a class=\"wp-block-button__link wp-element-button\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/plan-finder\/\" target=\"_blank\" rel=\"noopener\">\u30d7\u30e9\u30f3\u8a3a\u65ad\u3067\u81ea\u5206\u306b\u5408\u3046\u691c\u67fb\u3092\u63a2\u3059<\/a><\/div>\n<\/div>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\"><\/p>\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u304a\u6bcd\u3055\u3093\u3068\u8d64\u3061\u3083\u3093\u306e\u305f\u3081\u306b<br \/><span>NIPT\u691c\u67fb<\/span>\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u8a73\u3057\u304f\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p><\/a>\n<\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"10_%E3%81%BE%E3%81%A8%E3%82%81\"><\/span><strong>10. \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><strong>16q\u8fd1\u4f4d\u91cd\u8907\u75c7\u5019\u7fa4<\/strong>\u306f\u300116\u756a\u67d3\u8272\u4f53\u9577\u8155\u306e\u8fd1\u4f4d\u90e8(16q11.2-q13\u306a\u3069)\u306e\u91cd\u8907\u306b\u3088\u308b\u5e0c\u5c11\u75be\u60a3\u3067\u3001\u4e16\u754c\u306e\u5831\u544a\u4f8b\u306f21\u4f8b(\u3046\u3061\u8fd1\u4f4d\u578b15\u4f8b)\u3068\u304d\u308f\u3081\u3066\u9650\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u75c7<\/a>\u95a2\u9023\u3067\u77e5\u3089\u308c\u308b16p11.2\u91cd\u8907\u75c7\u5019\u7fa4(\u77ed\u8155)\u3068\u306f\u5225\u306e\u75c5\u6c17<\/strong>\u3067\u3001\u5909\u5316\u3057\u3066\u3044\u308b\u5834\u6240\u3082\u75c7\u72b6\u306e\u4e2d\u5fc3\u3082\u7570\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4e3b\u306a\u75c7\u72b6<\/strong>\u306f\u767a\u9054\u306e\u9045\u308c\u30fb\u6210\u9577\u306e\u3086\u3063\u304f\u308a\u3055\u30fb\u8efd\u5ea6\u306e\u8eab\u4f53\u7684\u7279\u5fb4\u3067\u3001\u500b\u4eba\u5dee\u304c\u975e\u5e38\u306b\u5927\u304d\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u539f\u56e0<\/strong>\u306e\u591a\u304f\u306f\u7a81\u7136\u5909\u7570(de novo)\u3067\u3059\u304c\u3001\u4e00\u90e8\u306f\u89aa\u304b\u3089\u53d7\u3051\u7d99\u3050\u30b1\u30fc\u30b9\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8a3a\u65ad<\/strong>\u306b\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(CMA)\u304c\u6709\u52b9\u3067\u3001<strong>\u6cbb\u7642<\/strong>\u306f\u5408\u4f75\u75c7\u7ba1\u7406\u3068\u65e9\u671f\u7642\u80b2(PT\u30fbOT\u30fbST)\u304c\u4e2d\u5fc3\u3067\u3059\u3002<\/li>\n<\/ol>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%82%88%E3%81%8F%E3%81%82%E3%82%8B%E8%B3%AA%E5%95%8F\"><\/span><strong>\u3088\u304f\u3042\u308b\u8cea\u554f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"16q%E8%BF%91%E4%BD%8D%E9%87%8D%E8%A4%87%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%A7%E3%81%99%E3%81%8B%E3%80%82\"><\/span>16q\u8fd1\u4f4d\u91cd\u8907\u75c7\u5019\u7fa4\u3068\u306f\u3069\u306e\u3088\u3046\u306a\u75c5\u6c17\u3067\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>16\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\u306e\u3046\u3061\u52d5\u539f\u4f53\u306b\u8fd1\u3044\u90e8\u5206(16q11.2-q13\u4ed8\u8fd1)\u304c\u4f59\u5206\u306b\u5897\u3048\u3066\u3044\u308b\u3001\u751f\u307e\u308c\u3064\u304d\u306e\u67d3\u8272\u4f53\u75be\u60a3\u3067\u3059\u3002\u4e16\u754c\u306e\u5831\u544a\u4f8b\u304c21\u4f8b(\u3046\u3061\u8fd1\u4f4d\u578b15\u4f8b)\u3068\u304d\u308f\u3081\u3066\u5c11\u306a\u3044\u5e0c\u5c11\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%87%AA%E9%96%89%E7%97%87%E3%81%A8%E3%81%AE%E9%96%A2%E9%80%A3%E3%81%A7%E7%9F%A5%E3%82%89%E3%82%8C%E3%82%8B16p112%E9%87%8D%E8%A4%87%E7%97%87%E5%80%99%E7%BE%A4%E3%81%A8%E5%90%8C%E3%81%98%E7%97%85%E6%B0%97%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u81ea\u9589\u75c7\u3068\u306e\u95a2\u9023\u3067\u77e5\u3089\u308c\u308b16p11.2\u91cd\u8907\u75c7\u5019\u7fa4\u3068\u540c\u3058\u75c5\u6c17\u3067\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5225\u306e\u75c5\u6c17\u3067\u3059\u300216p11.2\u91cd\u8907\u75c7\u5019\u7fa4\u306f16\u756a\u67d3\u8272\u4f53\u306e\u77ed\u8155(p)\u306e\u5909\u5316\u3067<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7<\/a>\u306a\u3069\u3068\u306e\u95a2\u9023\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u672c\u8a18\u4e8b\u306e\u75c5\u6c17\u306f\u9577\u8155(q)\u306e\u8fd1\u4f4d\u90e8\u306e\u5909\u5316\u3067\u3001\u75c7\u72b6\u306e\u4e2d\u5fc3\u3082\u7570\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"16q%E8%BF%91%E4%BD%8D%E9%87%8D%E8%A4%87%E3%81%AFNIPT%E3%81%A7%E3%82%8F%E3%81%8B%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span>16q\u8fd1\u4f4d\u91cd\u8907\u306fNIPT\u3067\u308f\u304b\u308a\u307e\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6a19\u6e96\u7684\u306aNIPT\u306e\u5bfe\u8c61\u306b\u306f\u901a\u5e38\u542b\u307e\u308c\u305a\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u30fb\u91cd\u8907\u307e\u3067\u5bfe\u8c61\u3092\u5e83\u3052\u305f\u62e1\u5927\u691c\u67fb\u3067\u3082\u3001\u540d\u6307\u3057\u3067\u5bfe\u8c61\u306b\u542b\u3080\u4f1a\u793e\u306f\u9650\u3089\u308c\u307e\u3059\u3002NIPT\u306f\u975e\u78ba\u5b9a\u7684\u306a\u691c\u67fb\u306e\u305f\u3081\u3001\u967d\u6027\u6240\u898b\u304c\u51fa\u305f\u5834\u5408\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u306a\u3069\u306e\u78ba\u5b9a\u691c\u67fb\u3067\u5224\u65ad\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%BA%E4%BC%9D%E6%80%A7%E3%81%AE%E7%97%85%E6%B0%97%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82%E6%AC%A1%E3%81%AE%E5%AD%90%E3%81%AB%E3%82%82%E5%BD%B1%E9%9F%BF%E3%81%97%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u907a\u4f1d\u6027\u306e\u75c5\u6c17\u3067\u3059\u304b\u3002\u6b21\u306e\u5b50\u306b\u3082\u5f71\u97ff\u3057\u307e\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6587\u732e\u30ec\u30d3\u30e5\u30fc\u3067\u306f21\u4f8b\u4e2d\u591a\u304f\u304cde novo(\u7a81\u767a\u7684)\u306a\u5909\u5316\u3067\u3057\u305f\u304c\u30017\u4f8b\u306f\u5bb6\u65cf\u6027(\u89aa\u304b\u3089\u53d7\u3051\u7d99\u3044\u3060\u30b1\u30fc\u30b9)\u3067\u3057\u305f\u3002\u3054\u4e21\u89aa\u306e\u3069\u3061\u3089\u304b\u304c\u5747\u8861\u578b\u8ee2\u5ea7\u3092\u6301\u3064\u5834\u5408\u306f\u518d\u767a\u306e\u53ef\u80fd\u6027\u304c\u3042\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=\"%E6%B2%BB%E7%99%82%E6%B3%95%E3%81%AF%E3%81%82%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5897\u3048\u3066\u3044\u308b\u67d3\u8272\u4f53\u3092\u53d6\u308a\u9664\u304f\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u307e\u3060\u3042\u308a\u307e\u305b\u3093\u3002\u5fc3\u75be\u60a3\u306a\u3069\u306e\u5408\u4f75\u75c7\u7ba1\u7406\u3068\u3001\u7406\u5b66\u7642\u6cd5\u30fb\u4f5c\u696d\u7642\u6cd5\u30fb\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\u306b\u3088\u308b\u65e9\u671f\u7642\u80b2\u3092\u7d44\u307f\u5408\u308f\u305b\u3066\u3001\u751f\u6d3b\u306e\u8cea\u3092\u9ad8\u3081\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%AF%BF%E5%91%BD%E3%82%84%E5%B0%86%E6%9D%A5%E3%81%AE%E8%A6%8B%E9%80%9A%E3%81%97%E3%81%AF%E3%81%A9%E3%81%86%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u5bff\u547d\u3084\u5c06\u6765\u306e\u898b\u901a\u3057\u306f\u3069\u3046\u3067\u3059\u304b\u3002<span 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