{"id":83653,"date":"2024-11-15T17:20:04","date_gmt":"2024-11-15T08:20:04","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=83653"},"modified":"2026-07-12T21:21:50","modified_gmt":"2026-07-12T12:21:50","slug":"xp22-31-microdeletion-syndrome","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/xp22-31-microdeletion-syndrome\/","title":{"rendered":"Xp22.31\u5fae\u5c0f\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u306f\uff5cSTS\u907a\u4f1d\u5b50\u6b20\u5931\u3068X\u9023\u9396\u6027\u9b5a\u9c57\u766c\u30fbNIPT\u3068\u306e\u95a2\u4fc2"},"content":{"rendered":"\n<p><strong>\u62e1\u5f35NIPT\u3084\u51fa\u751f\u5f8c\u306e\u67d3\u8272\u4f53\u691c\u67fb\u3067\u300cXp22.31<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u75c7\u5019\u7fa4\u300d\u3068\u3044\u3046\u7d50\u679c\u3092\u53d7\u3051\u53d6\u308a\u3001\u805e\u304d\u6163\u308c\u306a\u3044\u75c5\u540d\u306b\u6238\u60d1\u3063\u3066\u3044\u3089\u3063\u3057\u3083\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002<\/strong><\/p>\n\n\n\n<p><strong>\u7d50\u8ad6\u304b\u3089\u304a\u4f1d\u3048\u3057\u307e\u3059\u3002\u3053\u306e\u75c5\u6c17\u306fX\u67d3\u8272\u4f53\u306e\u77ed\u815522.31\u3068\u3044\u3046\u9818\u57df\u306b\u3042\u308bSTS\u907a\u4f1d\u5b50\u306a\u3069\u304c\u3001\u751f\u307e\u308c\u3064\u304d\u6b20\u3051\u3066\u3044\u308b\u3053\u3068\u3067\u8d77\u3053\u308b\u75be\u60a3\u7fa4\u3067\u3059\u3002<\/strong>\u6700\u3082\u983b\u5ea6\u304c\u9ad8\u3044\u306e\u306fSTS\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u306b\u3088\u308bX\u9023\u9396\u6027\u9b5a\u9c57\u766c\uff08\u76ae\u819a\u304c\u4e7e\u71e5\u3057\u3066\u3046\u308d\u3053\u72b6\u306b\u306a\u308b\u75c5\u6c17\uff09\u3067\u3001X\u67d3\u8272\u4f53\u306f\u7537\u5973\u3067\u672c\u6570\u304c\u7570\u306a\u308b\u305f\u3081\u3001<strong>\u7537\u6027\u3068\u5973\u6027\u3067\u75c7\u72b6\u306e\u51fa\u65b9\u304c\u5927\u304d\u304f\u7570\u306a\u308b<\/strong>\u70b9\u304c\u3053\u306e\u75c5\u6c17\u306e\u5927\u304d\u306a\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u8a18\u4e8b\u3067\u306f\u3001\u539f\u56e0\u3068\u306a\u308bSTS\u907a\u4f1d\u5b50\u3068\u5468\u8fba\u907a\u4f1d\u5b50\u306e\u50cd\u304d\u304b\u3089\u3001\u7537\u5973\u3067\u75c7\u72b6\u304c\u9055\u3046\u7406\u7531\u3001\u5927\u304d\u306a\u6b20\u5931\u3067\u8d77\u3053\u308b\u96a3\u63a5\u907a\u4f1d\u5b50\u75c7\u5019\u7fa4\uff08\u30ab\u30fc\u30eb\u30de\u30f3\u75c7\u5019\u7fa4\u306a\u3069\uff09\u3001<a 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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>Xp22.31<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u75c7\u5019\u7fa4\u304c\u3069\u306e\u3088\u3046\u306a\u67d3\u8272\u4f53\u306e\u5909\u5316\u306a\u306e\u304b\uff08STS\u30fbANOS1\u30fbNLGN4X\u306a\u3069\u907a\u4f1d\u5b50\u3068\u6b20\u5931\u7bc4\u56f2\u306e\u76ee\u5b89\uff09<\/li>\n<li>\u7537\u6027\uff08\u534a\u63a5\u5408\u4f53\uff09\u3068\u5973\u6027\uff08\u4fdd\u56e0\u8005\uff09\u3067\u75c7\u72b6\u306e\u91cd\u3055\u304c\u9055\u3046\u7406\u7531<\/li>\n<li>\u6b20\u5931\u7bc4\u56f2\u306b\u3088\u3063\u3066\u5909\u308f\u308b\u4e3b\u306a\u75c7\u72b6\uff08\u76ae\u819a\u75c7\u72b6\u30fb\u89d2\u819c\u6df7\u6fc1\u30fb\u505c\u7559\u7cbe\u5de3\u30fb\u884c\u52d5\u7279\u6027\uff09<\/li>\n<li>\u5927\u304d\u306a\u6b20\u5931\u3067\u8d77\u3053\u308b\u96a3\u63a5\u907a\u4f1d\u5b50\u75c7\u5019\u7fa4\uff08\u30ab\u30fc\u30eb\u30de\u30f3\u75c7\u5019\u7fa4\u30fb\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u95a2\u9023\u907a\u4f1d\u5b50\u306a\u3069\uff09<\/li>\n<li><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u30fbNIPT\u3067\u3053\u306e\u75c5\u6c17\u304c\u7591\u308f\u308c\u308b\u30b1\u30fc\u30b9\u3068\u3001\u6bcd\u4f53\u7531\u6765\u3067\u3042\u308b\u53ef\u80fd\u6027\u3078\u306e\u6ce8\u610f\u70b9<\/li>\n<li>\u78ba\u5b9a\u8a3a\u65ad\u306e\u6d41\u308c\u3068\u3001\u6cbb\u7642\u30fb\u7ba1\u7406\u306e\u8003\u3048\u65b9<\/li>\n<\/ul>\n<\/div>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u598a\u5a20\u4e2d\u306e\u30ea\u30b9\u30af\u7ba1\u7406\u306b<br \/>\nNIPT\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p>&nbsp;<\/p>\n<\/div>\n<\/div>\n\n\n\n<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 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Xp22.31\u5fae\u5c0f\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u306f\uff08\u539f\u56e0\u306fSTS\u907a\u4f1d\u5b50\u306e\u6b20\u5931\uff09<\/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\/xp22-31-microdeletion-syndrome\/#%E6%AC%A0%E5%A4%B1%E3%81%AB%E5%90%AB%E3%81%BE%E3%82%8C%E3%82%8B%E4%B8%BB%E3%81%AA%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%A8%E3%81%9D%E3%81%AE%E5%83%8D%E3%81%8D\" >\u6b20\u5931\u306b\u542b\u307e\u308c\u308b\u4e3b\u306a\u907a\u4f1d\u5b50\u3068\u305d\u306e\u50cd\u304d<\/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\/xp22-31-microdeletion-syndrome\/#2_%E3%81%AA%E3%81%9C%E7%94%B7%E5%A5%B3%E3%81%A7%E7%97%87%E7%8A%B6%E3%81%AE%E9%87%8D%E3%81%95%E3%81%8C%E9%81%95%E3%81%86%E3%81%AE%E3%81%8B%EF%BC%88X%E9%80%A3%E9%8E%96%E6%BD%9C%E6%80%A7%E3%81%AE%E9%81%BA%E4%BC%9D%E5%BD%A2%E5%BC%8F%EF%BC%89\" >2. \u306a\u305c\u7537\u5973\u3067\u75c7\u72b6\u306e\u91cd\u3055\u304c\u9055\u3046\u306e\u304b\uff08X\u9023\u9396\u6f5c\u6027\u306e\u907a\u4f1d\u5f62\u5f0f\uff09<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/xp22-31-microdeletion-syndrome\/#%E7%94%B7%E6%80%A7%EF%BC%88%E5%8D%8A%E6%8E%A5%E5%90%88%E4%BD%93%EF%BC%89%E3%81%AB%E7%8F%BE%E3%82%8C%E3%82%84%E3%81%99%E3%81%84%E7%97%87%E7%8A%B6\" >\u7537\u6027\uff08\u534a\u63a5\u5408\u4f53\uff09\u306b\u73fe\u308c\u3084\u3059\u3044\u75c7\u72b6<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/xp22-31-microdeletion-syndrome\/#%E5%A5%B3%E6%80%A7%EF%BC%88%E4%BF%9D%E5%9B%A0%E8%80%85%EF%BC%89%E3%81%AF%E5%9F%BA%E6%9C%AC%E7%9A%84%E3%81%AB%E7%84%A1%E7%97%87%E7%8A%B6\" >\u5973\u6027\uff08\u4fdd\u56e0\u8005\uff09\u306f\u57fa\u672c\u7684\u306b\u7121\u75c7\u72b6<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/xp22-31-microdeletion-syndrome\/#3_%E4%B8%BB%E3%81%AA%E7%97%87%E7%8A%B6%EF%BC%88X%E9%80%A3%E9%8E%96%E6%80%A7%E9%AD%9A%E9%B1%97%E7%99%AC%E3%82%92%E4%B8%AD%E5%BF%83%E3%81%AB%EF%BC%89\" >3. \u4e3b\u306a\u75c7\u72b6\uff08X\u9023\u9396\u6027\u9b5a\u9c57\u766c\u3092\u4e2d\u5fc3\u306b\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/xp22-31-microdeletion-syndrome\/#4_%E5%A4%A7%E3%81%8D%E3%81%AA%E6%AC%A0%E5%A4%B1%E3%81%A7%E8%B5%B7%E3%81%93%E3%82%8B%E9%9A%A3%E6%8E%A5%E9%81%BA%E4%BC%9D%E5%AD%90%E7%97%87%E5%80%99%E7%BE%A4%EF%BC%88%E3%82%AB%E3%83%BC%E3%83%AB%E3%83%9E%E3%83%B3%E7%97%87%E5%80%99%E7%BE%A4%E3%81%AA%E3%81%A9%EF%BC%89\" >4. \u5927\u304d\u306a\u6b20\u5931\u3067\u8d77\u3053\u308b\u96a3\u63a5\u907a\u4f1d\u5b50\u75c7\u5019\u7fa4\uff08\u30ab\u30fc\u30eb\u30de\u30f3\u75c7\u5019\u7fa4\u306a\u3069\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/xp22-31-microdeletion-syndrome\/#5_%E6%B7%B7%E5%90%8C%E3%81%95%E3%82%8C%E3%82%84%E3%81%99%E3%81%84%E7%97%85%E6%B0%97%E3%81%A8%E3%81%AE%E9%81%95%E3%81%84%EF%BC%88%E3%81%BB%E3%81%8B%E3%81%AE%E9%AD%9A%E9%B1%97%E7%99%AC%E3%81%A8%E3%81%AE%E6%AF%94%E8%BC%83%EF%BC%89\" >5. \u6df7\u540c\u3055\u308c\u3084\u3059\u3044\u75c5\u6c17\u3068\u306e\u9055\u3044\uff08\u307b\u304b\u306e\u9b5a\u9c57\u766c\u3068\u306e\u6bd4\u8f03\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/xp22-31-microdeletion-syndrome\/#6_%E5%8E%9F%E5%9B%A0%E3%81%A8%E9%81%BA%E4%BC%9D%E5%BD%A2%E5%BC%8F%EF%BC%88X%E9%80%A3%E9%8E%96%E6%BD%9C%E6%80%A7%E3%83%BB%E6%AF%8D%E8%A6%AA%E3%81%8B%E3%82%89%E3%81%AE%E4%BC%9D%E9%81%94%EF%BC%89\" >6. \u539f\u56e0\u3068\u907a\u4f1d\u5f62\u5f0f\uff08X\u9023\u9396\u6f5c\u6027\u30fb\u6bcd\u89aa\u304b\u3089\u306e\u4f1d\u9054\uff09<\/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\/xp22-31-microdeletion-syndrome\/#%E6%AF%8D%E8%A6%AA%E3%81%8C%E4%BF%9D%E5%9B%A0%E8%80%85%E3%81%AE%E3%82%B1%E3%83%BC%E3%82%B9\" >\u6bcd\u89aa\u304c\u4fdd\u56e0\u8005\u306e\u30b1\u30fc\u30b9<\/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\/xp22-31-microdeletion-syndrome\/#%E6%96%B0%E7%94%9F%EF%BC%88%E3%83%87%E3%83%8E%E3%83%9C%EF%BC%89%E3%81%AE%E3%82%B1%E3%83%BC%E3%82%B9\" >\u65b0\u751f\uff08\u30c7\u30ce\u30dc\uff09\u306e\u30b1\u30fc\u30b9<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-12\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/xp22-31-microdeletion-syndrome\/#7_%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\" >7. \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-13\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/xp22-31-microdeletion-syndrome\/#8_%E8%A8%BA%E6%96%AD%E3%81%8C%E7%A2%BA%E5%AE%9A%E3%81%99%E3%82%8B%E3%81%BE%E3%81%A7%E3%81%AE%E6%B5%81%E3%82%8C\" >8. \u8a3a\u65ad\u304c\u78ba\u5b9a\u3059\u308b\u307e\u3067\u306e\u6d41\u308c<\/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\/xp22-31-microdeletion-syndrome\/#%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%BB%EF%BC%88CMA%EF%BC%89\" >\u67d3\u8272\u4f53\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u691c\u67fb\uff08CMA\uff09<\/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\/xp22-31-microdeletion-syndrome\/#%E3%82%B9%E3%83%86%E3%83%AD%E3%82%A4%E3%83%89%E3%82%B5%E3%83%AB%E3%83%95%E3%82%A1%E3%82%BF%E3%83%BC%E3%82%BC%E9%85%B5%E7%B4%A0%E6%B4%BB%E6%80%A7%E6%B8%AC%E5%AE%9A\" >\u30b9\u30c6\u30ed\u30a4\u30c9\u30b5\u30eb\u30d5\u30a1\u30bf\u30fc\u30bc\u9175\u7d20\u6d3b\u6027\u6e2c\u5b9a<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/xp22-31-microdeletion-syndrome\/#FISH%E6%B3%95%E3%82%84%E4%B8%A1%E8%A6%AA%E3%81%AE%E6%A4%9C%E6%9F%BB\" >FISH\u6cd5\u3084\u4e21\u89aa\u306e\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-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/xp22-31-microdeletion-syndrome\/#9_%E6%B2%BB%E7%99%82%E3%83%BB%E7%AE%A1%E7%90%86%EF%BC%88%E4%BF%9D%E6%B9%BF%E3%82%B1%E3%82%A2%E3%81%A8%E5%AE%9A%E6%9C%9F%E3%83%95%E3%82%A9%E3%83%AD%E3%83%BC%EF%BC%89\" >9. \u6cbb\u7642\u30fb\u7ba1\u7406\uff08\u4fdd\u6e7f\u30b1\u30a2\u3068\u5b9a\u671f\u30d5\u30a9\u30ed\u30fc\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-18\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/xp22-31-microdeletion-syndrome\/#10_%E4%BA%88%E5%BE%8C%E3%81%A8%E8%A6%8B%E9%80%9A%E3%81%97\" >10. \u4e88\u5f8c\u3068\u898b\u901a\u3057<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-19\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/xp22-31-microdeletion-syndrome\/#11_%E3%81%94%E5%AE%B6%E6%97%8F%E3%81%B8%E3%81%AE%E6%94%AF%E6%8F%B4%E3%81%A8%E3%80%81%E6%AC%A1%E3%81%AE%E3%81%8A%E5%AD%90%E3%81%95%E3%81%BE%E3%82%92%E8%80%83%E3%81%88%E3%82%8B%E3%81%A8%E3%81%8D%E3%81%AB\" >11. \u3054\u5bb6\u65cf\u3078\u306e\u652f\u63f4\u3068\u3001\u6b21\u306e\u304a\u5b50\u3055\u307e\u3092\u8003\u3048\u308b\u3068\u304d\u306b<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-20\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/xp22-31-microdeletion-syndrome\/#%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-21\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/xp22-31-microdeletion-syndrome\/#Xp2231%E5%BE%AE%E5%B0%8F%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%A7%E3%81%99%E3%81%8B%E3%80%82\" >Xp22.31\u5fae\u5c0f\u6b20\u5931\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-22\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/xp22-31-microdeletion-syndrome\/#%E3%81%AA%E3%81%9C%E7%94%B7%E6%80%A7%E3%81%A8%E5%A5%B3%E6%80%A7%E3%81%A7%E7%97%87%E7%8A%B6%E3%81%AE%E9%87%8D%E3%81%95%E3%81%8C%E9%81%95%E3%81%86%E3%81%AE%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\" >\u306a\u305c\u7537\u6027\u3068\u5973\u6027\u3067\u75c7\u72b6\u306e\u91cd\u3055\u304c\u9055\u3046\u306e\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-23\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/xp22-31-microdeletion-syndrome\/#%E5%A4%A7%E3%81%8D%E3%81%AA%E6%AC%A0%E5%A4%B1%E3%81%8C%E3%81%82%E3%82%8B%E3%81%A8%E3%82%AB%E3%83%BC%E3%83%AB%E3%83%9E%E3%83%B3%E7%97%87%E5%80%99%E7%BE%A4%E3%82%82%E4%BD%B5%E7%99%BA%E3%81%97%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >\u5927\u304d\u306a\u6b20\u5931\u304c\u3042\u308b\u3068\u30ab\u30fc\u30eb\u30de\u30f3\u75c7\u5019\u7fa4\u3082\u4f75\u767a\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-24\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/xp22-31-microdeletion-syndrome\/#%E3%81%93%E3%81%AE%E7%97%85%E6%B0%97%E3%81%AFNIPT%E3%81%A7%E5%88%86%E3%81%8B%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >\u3053\u306e\u75c5\u6c17\u306fNIPT\u3067\u5206\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-25\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/xp22-31-microdeletion-syndrome\/#%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-26\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/xp22-31-microdeletion-syndrome\/#%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><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-27\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/xp22-31-microdeletion-syndrome\/#%E5%BC%95%E7%94%A8%E6%96%87%E7%8C%AE\" >\u5f15\u7528\u6587\u732e<\/a><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_Xp2231%E5%BE%AE%E5%B0%8F%E6%AC%A0%E5%A4%B1%E7%97%87%E5%80%99%E7%BE%A4%E3%81%A8%E3%81%AF%EF%BC%88%E5%8E%9F%E5%9B%A0%E3%81%AFSTS%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AE%E6%AC%A0%E5%A4%B1%EF%BC%89\"><\/span><strong>1. Xp22.31\u5fae\u5c0f\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u306f\uff08\u539f\u56e0\u306fSTS\u907a\u4f1d\u5b50\u306e\u6b20\u5931\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>Xp22.31<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u75c7\u5019\u7fa4\u306f\u3001X\u67d3\u8272\u4f53\u306e\u77ed\u815522.31\u306b\u304b\u3051\u3066\u306e\u9818\u57df\u304c\u3001\u751f\u307e\u308c\u3064\u304d\u6b20\u3051\u3066\u3044\u308b\u3053\u3068\u3067\u8d77\u3053\u308b\u9023\u7d9a\u907a\u4f1d\u5b50\u6b20\u5931\u75c7\u5019\u7fa4\u3067\u3059\u3002<\/strong>\u6700\u3082\u591a\u3044\u306e\u306f\u3001\u30b9\u30c6\u30ed\u30a4\u30c9\u30b5\u30eb\u30d5\u30a1\u30bf\u30fc\u30bc\uff08STS\uff09\u907a\u4f1d\u5b50\u3092\u542b\u3080\u7d042Mb\uff08\u30e1\u30ac\u30d9\u30fc\u30b9\uff09\u306e\u7bc4\u56f2\u304c\u4e38\u3054\u3068\u5931\u308f\u308c\u308b\u30bf\u30a4\u30d7\u3067\u3001X\u9023\u9396\u6027\u9b5a\u9c57\u766c\uff08X-linked ichthyosis\uff09\u306e\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>STS\u306e\u6b20\u5931\u306f\u3001\u5468\u8fba\u306b\u3042\u308bVCX\u907a\u4f1d\u5b50\u7fa4\u3068\u3044\u3046\u53cd\u5fa9\u914d\u5217\u3069\u3046\u3057\u304c\u8aa4\u3063\u3066\u7d44\u63db\u308f\u308b\u3053\u3068\u3067\u8d77\u3053\u308a\u3084\u3059\u304f\u3001X\u9023\u9396\u6027\u9b5a\u9c57\u766c\u5168\u4f53\u306e\u304a\u3088\u305d85\u301c90%\u304c\u3053\u306e\u518d\u767a\u6027\u306e\u6b20\u5931\u306b\u3088\u308b\u3082\u306e\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u7537\u60271\u301c\u4e07\u4eba\u3042\u305f\u308a<strong>2,500\u4eba\u306b1\u4eba\u304b\u30896,000\u4eba\u306b1\u4eba<\/strong>\u7a0b\u5ea6\u306b\u898b\u3089\u308c\u308b\u3068\u3055\u308c\u3001\u5c0b\u5e38\u6027\u9b5a\u9c57\u766c\u306b\u6b21\u3044\u3067\u983b\u5ea6\u306e\u9ad8\u3044\u30bf\u30a4\u30d7\u306e\u9b5a\u9c57\u766c\u3067\u3059\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"20\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/Xp22.31-hgtIdeo_genome_9f661_dbb610-1024x20.png\" alt=\"X\u67d3\u8272\u4f53\u4e0a\u306eXp22.31\u9818\u57df\u306e\u4f4d\u7f6e\u3092\u793a\u3059\u6a21\u5f0f\u56f3\" class=\"wp-image-90621\"\/><\/figure><\/div>\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%AC%A0%E5%A4%B1%E3%81%AB%E5%90%AB%E3%81%BE%E3%82%8C%E3%82%8B%E4%B8%BB%E3%81%AA%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%A8%E3%81%9D%E3%81%AE%E5%83%8D%E3%81%8D\"><\/span><strong>\u6b20\u5931\u306b\u542b\u307e\u308c\u308b\u4e3b\u306a\u907a\u4f1d\u5b50\u3068\u305d\u306e\u50cd\u304d<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>Xp22.31\u9818\u57df\u306b\u306f\u3001STS\uff08\u30b9\u30c6\u30ed\u30a4\u30c9\u30b5\u30eb\u30d5\u30a1\u30bf\u30fc\u30bc\uff09\u306e\u307b\u304b\u3001ANOS1\uff08\u5225\u540dKAL1\uff09\u3001NLGN4X\u3001HDHD1\uff08PUDP\uff09\u3001PNPLA4\u3001VCX\u30af\u30e9\u30b9\u30bf\u30fc\u3068\u3044\u3063\u305f\u907a\u4f1d\u5b50\u304c\u4e26\u3093\u3067\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u305d\u308c\u305e\u308c\u5f79\u5272\u304c\u7570\u306a\u308a\u307e\u3059\u3002STS\u306f\u76ae\u819a\u306e\u89d2\u8cea\u304c\u6b63\u5e38\u306b\u306f\u304c\u308c\u843d\u3061\u308b\u305f\u3081\u306b\u5fc5\u8981\u306a\u9175\u7d20\u3092\u3064\u304f\u308b\u907a\u4f1d\u5b50\u3067\u3001\u6b20\u5931\u3059\u308b\u3068\u9b5a\u9c57\u766c\u306e\u539f\u56e0\u306b\u306a\u308a\u307e\u3059\u3002ANOS1\u306f\u55c5\u899a\u306e\u767a\u9054\u3068\u6027\u817a\u523a\u6fc0\u30db\u30eb\u30e2\u30f3\u306e\u5206\u6ccc\u306b\u304b\u304b\u308f\u308a\u3001\u6b20\u5931\u3059\u308b\u3068\u30ab\u30fc\u30eb\u30de\u30f3\u75c7\u5019\u7fa4\uff08\u55c5\u899a\u8131\u5931\u3092\u4f34\u3046\u6027\u817a\u6a5f\u80fd\u4f4e\u4e0b\u75c7\uff09\u306b\u3064\u306a\u304c\u308a\u307e\u3059\u3002NLGN4X\u306f\u795e\u7d4c\u7d30\u80de\u3069\u3046\u3057\u306e\u3064\u306a\u304c\u308a\u306b\u95a2\u308f\u308b\u907a\u4f1d\u5b50\u3067\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7<\/a>\u3084\u77e5\u7684\u767a\u9054\u75c7\u3068\u306e\u95a2\u9023\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u6b20\u5931\u306e\u7bc4\u56f2\u304c\u5e83\u3044\u307b\u3069\u3001\u3053\u308c\u3089\u306e\u907a\u4f1d\u5b50\u304c\u91cd\u306a\u3063\u3066\u5931\u308f\u308c\u3001\u968f\u4f34\u3059\u308b\u75c7\u72b6\u304c\u5897\u3048\u308b\u50be\u5411\u306b\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"925\" height=\"500\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/chromox-MeGbDOXAeKbUEBBTJUAAASHX.png\" alt=\"X\u67d3\u8272\u4f53\u306e\u69cb\u9020\u3068Xp22.31\u5468\u8fba\u306e\u907a\u4f1d\u5b50\u914d\u7f6e\" class=\"wp-image-90588\"\/><\/figure><\/div>\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E3%81%AA%E3%81%9C%E7%94%B7%E5%A5%B3%E3%81%A7%E7%97%87%E7%8A%B6%E3%81%AE%E9%87%8D%E3%81%95%E3%81%8C%E9%81%95%E3%81%86%E3%81%AE%E3%81%8B%EF%BC%88X%E9%80%A3%E9%8E%96%E6%BD%9C%E6%80%A7%E3%81%AE%E9%81%BA%E4%BC%9D%E5%BD%A2%E5%BC%8F%EF%BC%89\"><\/span><strong>2. \u306a\u305c\u7537\u5973\u3067\u75c7\u72b6\u306e\u91cd\u3055\u304c\u9055\u3046\u306e\u304b\uff08X\u9023\u9396\u6f5c\u6027\u306e\u907a\u4f1d\u5f62\u5f0f\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>STS\u306e\u6b20\u5931\u306b\u3088\u308bX\u9023\u9396\u6027\u9b5a\u9c57\u766c\u306f\u3001X\u9023\u9396\u6f5c\u6027\u306e\u907a\u4f1d\u5f62\u5f0f\u3092\u3068\u308b\u305f\u3081\u3001\u7537\u6027\u3067\u306f\u307b\u307c\u78ba\u5b9f\u306b\u75c7\u72b6\u304c\u73fe\u308c\u3001\u5973\u6027\u3067\u306f\u57fa\u672c\u7684\u306b\u7121\u75c7\u72b6\u306b\u3068\u3069\u307e\u308a\u307e\u3059\u3002<\/strong>\u7537\u6027\u306fX\u67d3\u8272\u4f53\u30921\u672c\u3057\u304b\u6301\u305f\u306a\u3044\u305f\u3081\u3001\u305d\u306e1\u672c\u3067STS\u304c\u6b20\u3051\u3066\u3044\u308c\u3070\u9175\u7d20\u306e\u50cd\u304d\u304c\u5931\u308f\u308c\u3001\u75c7\u72b6\u304c\u51fa\u307e\u3059\uff08\u534a\u63a5\u5408\u4f53\uff09\u3002\u4e00\u65b9\u3001\u5973\u6027\u306fX\u67d3\u8272\u4f53\u30922\u672c\u6301\u3064\u305f\u3081\u3001\u7247\u65b9\u304c\u6b63\u5e38\u3067\u3042\u308c\u3070\u9175\u7d20\u306f\u4fdd\u305f\u308c\u3001\u591a\u304f\u306e\u5834\u5408\u306f\u4fdd\u56e0\u8005\u306b\u3068\u3069\u307e\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%94%B7%E6%80%A7%EF%BC%88%E5%8D%8A%E6%8E%A5%E5%90%88%E4%BD%93%EF%BC%89%E3%81%AB%E7%8F%BE%E3%82%8C%E3%82%84%E3%81%99%E3%81%84%E7%97%87%E7%8A%B6\"><\/span>\u7537\u6027\uff08\u534a\u63a5\u5408\u4f53\uff09\u306b\u73fe\u308c\u3084\u3059\u3044\u75c7\u72b6<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u51fa\u751f\u6642\u304b\u3089\u6570\u9031\u9593\u4ee5\u5185\u306b\u3001\u624b\u8db3\u306e\u4f38\u5074\u3092\u4e2d\u5fc3\u306b\u591a\u89d2\u5f62\u306e\u8336\u8910\u8272\u306e\u9c57\u5c51\u304c\u73fe\u308c\u307e\u3059\u3002\u95a2\u7bc0\u306e\u5185\u5074\u3084\u624b\u306e\u3072\u3089\u30fb\u8db3\u306e\u88cf\u306f\u6bd4\u8f03\u7684\u5f71\u97ff\u3092\u53d7\u3051\u306b\u304f\u3044\u306e\u304c\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%A5%B3%E6%80%A7%EF%BC%88%E4%BF%9D%E5%9B%A0%E8%80%85%EF%BC%89%E3%81%AF%E5%9F%BA%E6%9C%AC%E7%9A%84%E3%81%AB%E7%84%A1%E7%97%87%E7%8A%B6\"><\/span>\u5973\u6027\uff08\u4fdd\u56e0\u8005\uff09\u306f\u57fa\u672c\u7684\u306b\u7121\u75c7\u72b6<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u76ae\u819a\u75c7\u72b6\u306f\u307b\u3068\u3093\u3069\u51fa\u307e\u305b\u3093\u304c\u3001\u89d2\u819c\u6df7\u6fc1\u3084\u6ce8\u610f\u6b20\u9665\u30fb\u591a\u52d5\u75c7\uff08<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/adhd-genetics-symptoms-support\/\">ADHD<\/a>\uff09\u50be\u5411\u304c\u308f\u305a\u304b\u306b\u9ad8\u307e\u308b\u53ef\u80fd\u6027\u304c\u5831\u544a\u306b\u542b\u307e\u308c\u307e\u3059\u3002\u6b21\u306e\u304a\u5b50\u3055\u307e\u3078\u306e\u907a\u4f1d\u3068\u3044\u3046\u89b3\u70b9\u3067\u306f\u3001\u4fdd\u56e0\u8005\u3067\u3042\u308b\u304b\u3069\u3046\u304b\u306e\u78ba\u8a8d\u304c\u91cd\u8981\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<figure class=\"wp-table-block\"><table><thead><tr><th>\u6bd4\u8f03\u9805\u76ee<\/th><th>\u7537\u6027\uff08\u534a\u63a5\u5408\u4f53\uff09<\/th><th>\u5973\u6027\uff08\u4fdd\u56e0\u8005\uff09<\/th><\/tr><\/thead><tbody><tr><td>\u76ae\u819a\u75c7\u72b6<\/td><td>\u307b\u307c\u5168\u4f8b\u306b\u9c57\u5c51\u304c\u51fa\u73fe<\/td><td>\u901a\u5e38\u306f\u7121\u75c7\u72b6<\/td><\/tr><tr><td>\u89d2\u819c\u6df7\u6fc1<\/td><td>\u7d04\u534a\u6570\u306b\u898b\u3089\u308c\u308b\uff08\u81ea\u899a\u75c7\u72b6\u306f\u307b\u307c\u306a\u3057\uff09<\/td><td>\u307e\u308c\u306b\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308b<\/td><\/tr><tr><td>\u505c\u7559\u7cbe\u5de3<\/td><td>\u7d042\u5272\u306b\u898b\u3089\u308c\u308b<\/td><td>\u8a72\u5f53\u306a\u3057<\/td><\/tr><tr><td>\u884c\u52d5\u7279\u6027\uff08ADHD\u50be\u5411\u306a\u3069\uff09<\/td><td>\u4e00\u5b9a\u306e\u5272\u5408\u3067\u5831\u544a\u3042\u308a<\/td><td>\u308f\u305a\u304b\u306b\u9ad8\u307e\u308b\u53ef\u80fd\u6027\u304c\u6307\u6458\u3055\u308c\u308b<\/td><\/tr><tr><td>\u6b21\u306e\u304a\u5b50\u3055\u307e\u3078\u306e\u5f71\u97ff<\/td><td>\u5a18\u306f\u4fdd\u56e0\u8005\u3001\u606f\u5b50\u306f\u975e\u4fdd\u56e0\u8005\u306b\u306a\u308a\u3084\u3059\u3044<\/td><td>\u606f\u5b50\u306e\u7d04\u534a\u6570\u304c\u767a\u75c7\u3001\u5a18\u306e\u7d04\u534a\u6570\u304c\u4fdd\u56e0\u8005<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u598a\u5a20\u4e2d\u306e\u30ea\u30b9\u30af\u7ba1\u7406\u306b<br \/>\nNIPT\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p>&nbsp;<\/p>\n<\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E4%B8%BB%E3%81%AA%E7%97%87%E7%8A%B6%EF%BC%88X%E9%80%A3%E9%8E%96%E6%80%A7%E9%AD%9A%E9%B1%97%E7%99%AC%E3%82%92%E4%B8%AD%E5%BF%83%E3%81%AB%EF%BC%89\"><\/span><strong>3. \u4e3b\u306a\u75c7\u72b6\uff08X\u9023\u9396\u6027\u9b5a\u9c57\u766c\u3092\u4e2d\u5fc3\u306b\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u76ae\u819a\u306e\u3046\u308d\u3053\u72b6\u306e\u5909\u5316\u304c\u4e2d\u5fc3\u3067\u3059\u304c\u3001\u76ae\u819a\u4ee5\u5916\u306b\u3082\u89d2\u819c\u6df7\u6fc1\u3084\u505c\u7559\u7cbe\u5de3\u3001\u884c\u52d5\u9762\u306e\u7279\u6027\u3092\u4f34\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/strong>\u5831\u544a\u4f8b\u3092\u3082\u3068\u306b\u3057\u305f\u4e3b\u306a\u75c7\u72b6\u306f\u6b21\u306e\u3068\u304a\u308a\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u76ae\u819a\u306e\u9c57\u5c51<\/strong>\uff1a \u5927\u304d\u3081\u306e\u591a\u89d2\u5f62\u3067\u8336\u8910\u8272\u301c\u7070\u8910\u8272\u306e\u3046\u308d\u3053\u72b6\u306e\u5909\u5316\u3002\u95a2\u7bc0\u306e\u5185\u5074\u30fb\u624b\u306e\u3072\u3089\u30fb\u8db3\u306e\u88cf\u306f\u6bd4\u8f03\u7684\u8efd\u304f\u6e08\u3080\u3053\u3068\u304c\u591a\u3044\u3068\u3055\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u89d2\u819c\u6df7\u6fc1<\/strong>\uff1a \u773c\u79d1\u306e\u8a3a\u5bdf\u3067\u306f\u3058\u3081\u3066\u6307\u6458\u3055\u308c\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u8996\u529b\u3078\u306e\u5f71\u97ff\u306f\u307b\u3068\u3093\u3069\u306a\u3044\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u505c\u7559\u7cbe\u5de3<\/strong>\uff1a \u7537\u5150\u306e\u304a\u3088\u305d2\u5272\u306b\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001\u6ccc\u5c3f\u5668\u79d1\u3067\u306e\u30d5\u30a9\u30ed\u30fc\u304c\u5fc5\u8981\u306b\u306a\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6ce8\u610f\u6b20\u9665\u30fb\u591a\u52d5\u75c7\uff08<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/adhd-genetics-symptoms-support\/\">ADHD<\/a>\uff09\u50be\u5411<\/strong>\uff1a \u4e00\u5b9a\u306e\u5272\u5408\u3067\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001\u5c31\u5b66\u524d\u5f8c\u306b\u6c17\u3065\u304b\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u75c7\u72b6\u306e\u7d44\u307f\u5408\u308f\u305b\u306f\u6b20\u5931\u306e\u7bc4\u56f2\u306b\u3088\u3063\u3066\u5909\u308f\u308a\u307e\u3059\u3002STS\u3060\u3051\u306e\u6b20\u5931\u3067\u3042\u308c\u3070\u76ae\u819a\u75c7\u72b6\u304c\u4e2d\u5fc3\u306b\u306a\u308a\u307e\u3059\u304c\u3001\u5468\u8fba\u306e\u907a\u4f1d\u5b50\u307e\u3067\u6b20\u5931\u304c\u5e83\u304c\u308b\u3068\u3001\u6b21\u306b\u7d39\u4ecb\u3059\u308b\u96a3\u63a5\u907a\u4f1d\u5b50\u75c7\u5019\u7fa4\u3068\u3057\u3066\u306e\u5074\u9762\u304c\u52a0\u308f\u308a\u307e\u3059\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"20\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/deea2785919692d57183b20783142d23-1024x20.png\" alt=\"ANOS1\u907a\u4f1d\u5b50\u3068\u30ab\u30fc\u30eb\u30de\u30f3\u75c7\u5019\u7fa4\u306e\u95a2\u4fc2\u3092\u793a\u3059\u56f3\" class=\"wp-image-90624\"\/><\/figure><\/div>\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E5%A4%A7%E3%81%8D%E3%81%AA%E6%AC%A0%E5%A4%B1%E3%81%A7%E8%B5%B7%E3%81%93%E3%82%8B%E9%9A%A3%E6%8E%A5%E9%81%BA%E4%BC%9D%E5%AD%90%E7%97%87%E5%80%99%E7%BE%A4%EF%BC%88%E3%82%AB%E3%83%BC%E3%83%AB%E3%83%9E%E3%83%B3%E7%97%87%E5%80%99%E7%BE%A4%E3%81%AA%E3%81%A9%EF%BC%89\"><\/span><strong>4. \u5927\u304d\u306a\u6b20\u5931\u3067\u8d77\u3053\u308b\u96a3\u63a5\u907a\u4f1d\u5b50\u75c7\u5019\u7fa4\uff08\u30ab\u30fc\u30eb\u30de\u30f3\u75c7\u5019\u7fa4\u306a\u3069\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u6b20\u5931\u306e\u7bc4\u56f2\u304cANOS1\u306b\u307e\u3067\u53ca\u3076\u5834\u5408\u3001\u30ab\u30fc\u30eb\u30de\u30f3\u75c7\u5019\u7fa4\uff08\u55c5\u899a\u8131\u5931\u3092\u4f34\u3046\u6027\u817a\u523a\u6fc0\u30db\u30eb\u30e2\u30f3\u5206\u6ccc\u4f4e\u4e0b\u75c7\uff09\u3092\u5408\u4f75\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/strong>\u5b9f\u969b\u306b\u5b66\u8853\u5831\u544a\u3067\u306f\u3001STS\u3068ANOS1\u306e\u4e21\u65b9\u3092\u542b\u3080\u6b20\u5931\u3092\u6301\u3064\u7537\u5150\u3067\u3001\u9b5a\u9c57\u766c\u3068\u30ab\u30fc\u30eb\u30de\u30f3\u75c7\u5019\u7fa4\u304c\u540c\u6642\u306b\u307f\u3089\u308c\u305f\u75c7\u4f8b\u304c\u7d39\u4ecb\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u30ab\u30fc\u30eb\u30de\u30f3\u75c7\u5019\u7fa4\u3092\u542b\u3080\u5b64\u7acb\u6027\u6027\u817a\u523a\u6fc0\u30db\u30eb\u30e2\u30f3\u5206\u6ccc\u4f4e\u4e0b\u75c7\uff08IGD\uff09\u306f\u3001\u6027\u817a\u523a\u6fc0\u30db\u30eb\u30e2\u30f3\u653e\u51fa\u30db\u30eb\u30e2\u30f3\uff08GnRH\uff09\u306e\u4e0d\u8db3\u306b\u3088\u308b\u75be\u60a3\u3067\u3059\u3002\u4e73\u5150\u671f\u306b\u306f\u7537\u5150\u3067\u5c0f\u9670\u830e\u3084\u505c\u7559\u7cbe\u5de3\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u601d\u6625\u671f\u306b\u306a\u308b\u307e\u3067\u6c17\u3065\u304b\u308c\u306a\u3044\u3053\u3068\u3082\u73cd\u3057\u304f\u3042\u308a\u307e\u305b\u3093\u3002\u601d\u6625\u671f\u4ee5\u964d\u306b\u767a\u75c7\u3059\u308b\u5834\u5408\u306f\u3001\u4e8c\u6b21\u6027\u5fb4\u306e\u767a\u9054\u4e0d\u5168\u3084\u539f\u767a\u6027\u7121\u6708\u7d4c\u304c\u624b\u304c\u304b\u308a\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6cbb\u7642\u306f\u3001\u4e8c\u6b21\u6027\u5fb4\u306e\u8a98\u767a\u3068\u7dad\u6301\u3092\u76ee\u7684\u306b\u30db\u30eb\u30e2\u30f3\u88dc\u5145\u7642\u6cd5\u304c\u4e2d\u5fc3\u306b\u306a\u308a\u307e\u3059\u3002\u7537\u6027\u306b\u306f\u30c6\u30b9\u30c8\u30b9\u30c6\u30ed\u30f3\u3084\u30d2\u30c8\u7d68\u6bdb\u6027\u30b4\u30ca\u30c9\u30c8\u30ed\u30d4\u30f3\uff08hCG\uff09\u3001\u5973\u6027\u306b\u306f\u30a8\u30b9\u30c8\u30ed\u30b2\u30f3\u3068\u30d7\u30ed\u30b2\u30b9\u30c1\u30f3\u304c\u7528\u3044\u3089\u308c\u307e\u3059\u3002\u598a\u5a20\u3092\u5e0c\u671b\u3059\u308b\u5834\u5408\u306f\u3001\u30b4\u30ca\u30c9\u30c8\u30ed\u30d4\u30f3\u7642\u6cd5\u3084GnRH\u7642\u6cd5\u306b\u3088\u308b\u6392\u5375\u30fb\u7cbe\u5b50\u5f62\u6210\u306e\u8a98\u5c0e\u3001\u4f53\u5916\u53d7\u7cbe\uff08IVF\uff09\u304c\u9078\u629e\u80a2\u306b\u306a\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3055\u3089\u306b\u6b20\u5931\u304c\u5e83\u3044\u5834\u5408\u3001NLGN4X\u306e\u55aa\u5931\u306b\u3088\u308b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7<\/a>\u30fb\u77e5\u7684\u767a\u9054\u75c7\u306e\u50be\u5411\u3001GPR143\u9818\u57df\u307e\u3067\u53ca\u3076\u5834\u5408\u306e\u773c\u767d\u76ae\u75c7\u3001\u4f4e\u8eab\u9577\u3001\u3066\u3093\u304b\u3093\u3001\u96e3\u8074\u306a\u3069\u304c\u5831\u544a\u306b\u542b\u307e\u308c\u307e\u3059\u3002\u76ae\u819a\u79d1\u30fb\u5185\u5206\u6ccc\u79d1\u30fb\u5c0f\u5150\u79d1\u30fb\u907a\u4f1d\u79d1\u304c\u9023\u643a\u3057\u3066\u8a55\u4fa1\u3059\u308b\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002\u767a\u9054\u306e\u7279\u6027\u304c\u6c17\u306b\u306a\u308b\u65b9\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-mild-intellectual-disability-sex-chromosome\/\">NIPT\u3068\u8efd\u5ea6\u77e5\u7684\u969c\u5bb3\u306e\u8a3a\u65ad\u9650\u754c\u306b\u3064\u3044\u3066\u306e\u8a18\u4e8b<\/a>\u3082\u3042\u308f\u305b\u3066\u3054\u78ba\u8a8d\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<p>\u306a\u304a\u3001\u540c\u3058X\u67d3\u8272\u4f53\u7531\u6765\u3067\u3082\u907a\u4f1d\u5b50\u30fb\u4f4d\u7f6e\u304c\u7570\u306a\u308b\u300cChondrodysplasia punctata, X-linked dominant\uff08CDPX2\u3001EBP\u907a\u4f1d\u5b50\u3001Xp11.23\uff09\u300d\u306f\u672c\u8a18\u4e8b\u306e\u75c5\u6c17\u3068\u306f\u5225\u306e\u75be\u60a3\u3067\u3059\u3002\u6df7\u540c\u3055\u308c\u3084\u3059\u3044CDPX1\uff08ARSE\u907a\u4f1d\u5b50\u3001X\u9023\u9396\u6f5c\u6027\u578b\uff09\u3068\u306e\u9055\u3044\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chondrodysplasia-punctata-x-linked-dominant-guide\/\">\u95a2\u9023\u8a18\u4e8b<\/a>\u3067\u89e3\u8aac\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/12q15-q21-1-microdeletion-syndrome\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">12q15-q21.1\u5fae\u5c0f\u6b20\u5931\u75c7\u5019\u7fa4 <\/div>\n          <div class=\"blog-card-excerpt\">12q15-q21.1\u5fae\u5c0f\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u300112\u756a\u67d3\u8272\u4f53\u306e\u907a\u4f1d\u5b50\u6b20\u5931\u306b\u3088\u308b\u7a00\u306a\u75be\u60a3\u3067\u3059\u3002\u767a\u9054\u9045\u5ef6\u3084\u5185\u81d3\u7570\u5e38\u3001\u884c\u52d5\u554f\u984c\u304c\u7279\u5fb4\u3067\u3001\u6cbb\u7642\u6cd5\u3084\u5bb6\u65cf\u652f\u63f4\u306e...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"5_%E6%B7%B7%E5%90%8C%E3%81%95%E3%82%8C%E3%82%84%E3%81%99%E3%81%84%E7%97%85%E6%B0%97%E3%81%A8%E3%81%AE%E9%81%95%E3%81%84%EF%BC%88%E3%81%BB%E3%81%8B%E3%81%AE%E9%AD%9A%E9%B1%97%E7%99%AC%E3%81%A8%E3%81%AE%E6%AF%94%E8%BC%83%EF%BC%89\"><\/span><strong>5. \u6df7\u540c\u3055\u308c\u3084\u3059\u3044\u75c5\u6c17\u3068\u306e\u9055\u3044\uff08\u307b\u304b\u306e\u9b5a\u9c57\u766c\u3068\u306e\u6bd4\u8f03\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u9b5a\u9c57\u766c\u306b\u306f\u3044\u304f\u3064\u304b\u306e\u30bf\u30a4\u30d7\u304c\u3042\u308a\u3001\u539f\u56e0\u907a\u4f1d\u5b50\u3084\u907a\u4f1d\u5f62\u5f0f\u304c\u7570\u306a\u308a\u307e\u3059\u3002<\/strong>\u75c7\u72b6\u3060\u3051\u3067\u306f\u898b\u5206\u3051\u306b\u304f\u3044\u305f\u3081\u3001\u907a\u4f1d\u5b66\u7684\u306a\u691c\u67fb\u3067\u533a\u5225\u3059\u308b\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n\n<figure class=\"wp-table-block\"><table><thead><tr><th>\u6bd4\u8f03\u9805\u76ee<\/th><th>X\u9023\u9396\u6027\u9b5a\u9c57\u766c\uff08\u672c\u8a18\u4e8b\uff09<\/th><th>\u5c0b\u5e38\u6027\u9b5a\u9c57\u766c<\/th><th>\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u5148\u5929\u6027\u9b5a\u9c57\u766c<\/th><\/tr><\/thead><tbody><tr><td>\u539f\u56e0\u907a\u4f1d\u5b50<\/td><td>STS\uff08Xp22.31\uff09<\/td><td>FLG\uff08\u30d5\u30a3\u30e9\u30b0\u30ea\u30f3\uff09<\/td><td>TGM1\u306a\u3069\u8907\u6570<\/td><\/tr><tr><td>\u907a\u4f1d\u5f62\u5f0f<\/td><td>X\u9023\u9396\u6f5c\u6027\uff08\u4e3b\u306b\u7537\u6027\u306b\u767a\u75c7\uff09<\/td><td>\u5e38\u67d3\u8272\u4f53\u9855\u6027<\/td><td>\u5e38\u67d3\u8272\u4f53\u6f5c\u6027<\/td><\/tr><tr><td>\u983b\u5ea6<\/td><td>\u7537\u60272,500\u301c6,000\u4eba\u306b1\u4eba\u7a0b\u5ea6<\/td><td>\u9b5a\u9c57\u766c\u306e\u4e2d\u3067\u6700\u3082\u983b\u5ea6\u304c\u9ad8\u3044<\/td><td>\u975e\u5e38\u306b\u307e\u308c<\/td><\/tr><tr><td>\u75c7\u72b6\u306e\u76ee\u5b89<\/td><td>\u95a2\u7bc0\u5185\u5074\u30fb\u624b\u8db3\u306e\u88cf\u3092\u907f\u3051\u305f\u9c57\u5c51<\/td><td>\u95a2\u7bc0\u5185\u5074\u3082\u3084\u3084\u5f71\u97ff\u3092\u53d7\u3051\u3084\u3059\u3044<\/td><td>\u51fa\u751f\u6642\u304b\u3089\u5f37\u3044\u76ae\u819a\u75c7\u72b6\u3092\u793a\u3059\u3053\u3068\u304c\u3042\u308b<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<p>\u3044\u305a\u308c\u306e\u30bf\u30a4\u30d7\u3082\u3001\u78ba\u5b9a\u8a3a\u65ad\u306b\u306f\u76ae\u819a\u751f\u691c\u3084\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u304c\u5fc5\u8981\u3067\u3059\u3002\u81ea\u5df1\u5224\u65ad\u305b\u305a\u3001\u76ae\u819a\u79d1\u30fb\u907a\u4f1d\u79d1\u3067\u306e\u8a55\u4fa1\u3092\u53d7\u3051\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"6_%E5%8E%9F%E5%9B%A0%E3%81%A8%E9%81%BA%E4%BC%9D%E5%BD%A2%E5%BC%8F%EF%BC%88X%E9%80%A3%E9%8E%96%E6%BD%9C%E6%80%A7%E3%83%BB%E6%AF%8D%E8%A6%AA%E3%81%8B%E3%82%89%E3%81%AE%E4%BC%9D%E9%81%94%EF%BC%89\"><\/span><strong>6. \u539f\u56e0\u3068\u907a\u4f1d\u5f62\u5f0f\uff08X\u9023\u9396\u6f5c\u6027\u30fb\u6bcd\u89aa\u304b\u3089\u306e\u4f1d\u9054\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u591a\u304f\u306e\u5834\u5408\u3001\u6bcd\u89aa\u304cSTS\u6b20\u5931\u306e\u4fdd\u56e0\u8005\u3067\u3042\u308a\u3001\u305d\u3053\u304b\u3089\u606f\u5b50\u306b\u4f1d\u308f\u308b\u5f62\u3067\u767a\u75c7\u3057\u307e\u3059\u3002<\/strong>\u6bcd\u89aa\u81ea\u8eab\u306f\u7121\u75c7\u72b6\u306e\u305f\u3081\u3001\u304a\u5b50\u3055\u307e\u306e\u8a3a\u65ad\u3067\u521d\u3081\u3066\u4fdd\u56e0\u8005\u3067\u3042\u308b\u3053\u3068\u304c\u5224\u660e\u3059\u308b\u30b1\u30fc\u30b9\u304c\u5c11\u306a\u304f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%AF%8D%E8%A6%AA%E3%81%8C%E4%BF%9D%E5%9B%A0%E8%80%85%E3%81%AE%E3%82%B1%E3%83%BC%E3%82%B9\"><\/span>\u6bcd\u89aa\u304c\u4fdd\u56e0\u8005\u306e\u30b1\u30fc\u30b9<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6bcd\u89aa\u304c\u4fdd\u56e0\u8005\u306e\u5834\u5408\u3001\u606f\u5b50\u306b\u306f\u7d042\u5206\u306e1\u306e\u78ba\u7387\u3067\u6b20\u5931\u304c\u4f1d\u308f\u308a\u767a\u75c7\u3057\u307e\u3059\u3002\u5a18\u306b\u306f\u7d042\u5206\u306e1\u306e\u78ba\u7387\u3067\u6b20\u5931\u304c\u4f1d\u308f\u308a\u307e\u3059\u304c\u3001\u591a\u304f\u306f\u7121\u75c7\u72b6\u306e\u4fdd\u56e0\u8005\u306b\u3068\u3069\u307e\u308a\u307e\u3059\u3002\u6b21\u306e\u304a\u5b50\u3055\u307e\u3092\u8003\u3048\u308b\u969b\u306f\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u78ba\u7387\u3092\u5177\u4f53\u7684\u306b\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%96%B0%E7%94%9F%EF%BC%88%E3%83%87%E3%83%8E%E3%83%9C%EF%BC%89%E3%81%AE%E3%82%B1%E3%83%BC%E3%82%B9\"><\/span>\u65b0\u751f\uff08\u30c7\u30ce\u30dc\uff09\u306e\u30b1\u30fc\u30b9<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u307e\u308c\u306b\u3001\u6bcd\u89aa\u304c\u4fdd\u56e0\u8005\u3067\u306a\u304f\u3066\u3082\u3001\u7cbe\u5b50\u3084\u5375\u5b50\u304c\u4f5c\u3089\u308c\u308b\u904e\u7a0b\u3067\u65b0\u305f\u306b\u6b20\u5931\u304c\u751f\u3058\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u306e\u5834\u5408\u306f\u598a\u5a20\u4e2d\u306e\u98df\u4e8b\u3084\u751f\u6d3b\u7fd2\u6163\u304c\u539f\u56e0\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u3054\u81ea\u8eab\u3092\u8cac\u3081\u308b\u5fc5\u8981\u306f\u306a\u3044\u3068\u3001\u79c1\u306f\u8a3a\u7642\u306e\u4e2d\u3067\u304a\u4f1d\u3048\u3059\u308b\u3088\u3046\u306b\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/2p15_p16_1\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">2p15-p16.1\u6b20\u5931\u75c7\u5019\u7fa4\u306b\u3064\u3044\u3066 <\/div>\n          <div class=\"blog-card-excerpt\">2p15-p16.1\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u539f\u56e0\u3001\u4e3b\u306a\u75c7\u72b6\u3001\u6cbb\u7642\u6cd5\u3001\u305d\u3057\u3066\u5bb6\u65cf\u304c\u5229\u7528\u3067\u304d\u308b\u652f\u63f4\u306b\u3064\u3044\u3066\u8a73\u3057\u304f\u89e3\u8aac\u3057\u307e\u3059\u3002\u767a\u9054\u652f\u63f4\u3084\u533b\u7642\u7ba1\u7406\u306e\u91cd\u8981\u6027\u3092\u7406\u89e3...<\/div>\n      <\/div>\n    <\/a>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u598a\u5a20\u4e2d\u306e\u30ea\u30b9\u30af\u7ba1\u7406\u306b<br \/>\nNIPT\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p>&nbsp;<\/p>\n<\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"7_%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>7. \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>NIPT\u3067Xp22.31\u306e\u6b20\u5931\u6240\u898b\u304c\u51fa\u305f\u5834\u5408\u3001\u305d\u308c\u304c\u300c\u6bcd\u4f53\u7531\u6765\u300d\u3067\u3042\u308b\u53ef\u80fd\u6027\u3092\u5fc5\u305a\u8003\u3048\u308b\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u3002<\/strong>\u3053\u308c\u306f\u4ed6\u306e\u591a\u304f\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u3068\u7570\u306a\u308b\u3001\u3053\u306e\u75c5\u6c17\u306a\u3089\u3067\u306f\u306e\u6ce8\u610f\u70b9\u3067\u3059\u3002<\/p>\n\n\n\n<p>NIPT\u3067\u89e3\u6790\u3059\u308b\u30bb\u30eb\u30d5\u30ea\u30fcDNA\uff08cfDNA\uff09\u306f\u3001\u305d\u306e\u5927\u90e8\u5206\u304c\u6bcd\u4f53\u81ea\u8eab\u306b\u7531\u6765\u3057\u307e\u3059\u3002\u6bcd\u89aa\u304cSTS\u6b20\u5931\u306e\u4fdd\u56e0\u8005\u3067\u3042\u308b\u5834\u5408\u3001\u80ce\u5150\u304c\u6b20\u5931\u3092\u53d7\u3051\u7d99\u3044\u3067\u3044\u306a\u304f\u3066\u3082\u3001\u6bcd\u4f53\u7531\u6765\u306ecfDNA\u3092\u53cd\u6620\u3057\u3066Xp22.31\u9818\u57df\u306b\u6b20\u5931\u30b7\u30b0\u30ca\u30eb\u304c\u691c\u51fa\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>2022\u5e74\u306b\u5b66\u8853\u8a8cFrontiers in Genetics\u3067\u5831\u544a\u3055\u308c\u305f\u7814\u7a76\u3067\u306f\u300113,156\u4f8b\u306e\u62e1\u5f35NIPT\u306e\u3046\u306119\u4f8b\uff08\u7d04692\u4f8b\u306b1\u4f8b\uff09\u3067Xp22.31\u306e\u6b20\u5931\u30b7\u30b0\u30ca\u30eb\u304c\u691c\u51fa\u3055\u308c\u3001\u6bcd\u89aa\u306e\u767d\u8840\u7403\u691c\u67fb\u3067\u3044\u305a\u308c\u3082\u6bcd\u4f53\u81ea\u8eab\u306e\u6b20\u5931\u3067\u3042\u308b\u3053\u3068\u304c\u78ba\u8a8d\u3055\u308c\u307e\u3057\u305f\u3002\u7537\u5150\u3067\u3042\u3063\u305f15\u4f8b\u306e\u3046\u306111\u4f8b\u304c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u306b\u3088\u308b\u78ba\u5b9a\u691c\u67fb\u3092\u53d7\u3051\u30019\u4f8b\u3067X\u9023\u9396\u6027\u9b5a\u9c57\u766c\u306e\u907a\u4f1d\u5b50\u3092\u53d7\u3051\u7d99\u3044\u3067\u3044\u308b\u3053\u3068\u304c\u78ba\u8a8d\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3082\u3046\u4e00\u3064\u77e5\u3063\u3066\u304a\u304d\u305f\u3044\u306e\u304c\u3001\u5f93\u6765\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/maternal-serum-screening-test\/\">\u6bcd\u4f53\u8840\u6e05\u30de\u30fc\u30ab\u30fc<\/a>\u691c\u67fb\uff08\u30af\u30a2\u30c8\u30ed\u30c6\u30b9\u30c8\u306a\u3069\uff09\u3068\u306e\u95a2\u4fc2\u3067\u3059\u3002\u80ce\u76e4\u306e\u30b9\u30c6\u30ed\u30a4\u30c9\u30b5\u30eb\u30d5\u30a1\u30bf\u30fc\u30bc\u304c\u4e0d\u8db3\u3059\u308b\u3068\u3001\u8840\u4e2d\u306e\u975e\u62b1\u5408\u578b\u30a8\u30b9\u30c8\u30ea\u30aa\u30fc\u30eb\uff08uE3\uff09\u304c\u4f4e\u5024\u306b\u306a\u308b\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u304a\u308a\u3001\u3053\u306e\u6240\u898b\u3092\u304d\u3063\u304b\u3051\u306bX\u9023\u9396\u6027\u9b5a\u9c57\u766c\u304c\u7591\u308f\u308c\u308b\u30b1\u30fc\u30b9\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\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\u78ba\u5b9a\u8a3a\u65ad\u3067\u306f\u306a\u304f\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u691c\u67fb\u306e\u7bc4\u56f2\u306b\u3068\u3069\u307e\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u539a\u751f\u52b4\u50cd\u7701\u306e<a href=\"https:\/\/www.mhlw.go.jp\/content\/000783387.pdf\" target=\"_blank\" rel=\"noopener\">NIPT\u7b49\u306e\u51fa\u751f\u524d\u691c\u67fb\u306b\u95a2\u3059\u308b\u5c02\u9580\u59d4\u54e1\u4f1a\u5831\u544a\u66f8<\/a>\u306b\u304a\u3044\u3066\u3082\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u3092\u542b\u3080\u62e1\u5f35\u691c\u67fb\u306f\u5206\u6790\u7684\u30fb\u81e8\u5e8a\u7684\u306a\u59a5\u5f53\u6027\u306b\u9650\u754c\u304c\u3042\u308b\u3053\u3068\u304c\u6307\u6458\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4e00\u822c\u7684\u306a\u57fa\u672cNIPT\u306f21\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\u3001\u6027\u67d3\u8272\u4f53\u9818\u57df\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u306f<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\u5f35\u691c\u67fb\u3067\u521d\u3081\u3066\u5019\u88dc\u306b\u3042\u304c\u308a\u307e\u3059\u3002\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30afNIPT\u3067\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u30fb\u91cd\u8907\u3092\u542b\u3080143\u7a2e\u306e\u9805\u76ee\u3092\u5bfe\u8c61\u3068\u3057\u305f\u62e1\u5f35\u691c\u67fb\u3092\u63d0\u4f9b\u3057\u3066\u3044\u307e\u3059\u304c\u3001\u5bfe\u8c61\u306b\u306a\u308b\u304b\u3069\u3046\u304b\u306f\u691c\u67fb\u3092\u53d7\u3051\u308b\u524d\u306b\u30d7\u30e9\u30f3\u306e\u691c\u67fb\u7bc4\u56f2\u8868\u3067\u78ba\u8a8d\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<p>NIPT\u3067Xp22.31\u9818\u57df\u306e\u967d\u6027\u6240\u898b\u304c\u51fa\u305f\u5834\u5408\u3001\u307e\u305a\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u300c\u6bcd\u4f53\u7531\u6765\u306e\u53ef\u80fd\u6027\u300d\u3068\u300c\u80ce\u5150\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/testing\/#anchor_sex\">\u6027\u5225<\/a>\u300d\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002\u305d\u306e\u4e0a\u3067<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniotic-fluid-test-about\/\">\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\uff08CMA\uff09\u3068\u3001\u6bcd\u89aa\u81ea\u8eab\u306e\u691c\u67fb\u3092\u7d44\u307f\u5408\u308f\u305b\u3066\u5224\u65ad\u3057\u3066\u3044\u304f\u6d41\u308c\u306b\u306a\u308a\u307e\u3059\u3002\u967d\u6027\u304c\u51fa\u305f\u6bb5\u968e\u3067\u65ad\u5b9a\u7684\u306a\u898b\u901a\u3057\u3092\u7acb\u3066\u308b\u3053\u3068\u306f\u907f\u3051\u3001\u5c02\u9580\u5bb6\u3068\u4e00\u3064\u305a\u3064\u6574\u7406\u3057\u3066\u304f\u3060\u3055\u3044\u3002NIPT\u5168\u822c\u3067\u4f55\u304c\u308f\u304b\u308a\u3001\u4f55\u304c\u308f\u304b\u3089\u306a\u3044\u304b\u306b\u3064\u3044\u3066\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-chromosome-abnormality\/\">NIPT\u3067\u308f\u304b\u308b\u67d3\u8272\u4f53\u7570\u5e38\u306e\u7a2e\u985e\u306b\u3064\u3044\u3066\u306e\u8a18\u4e8b<\/a>\u3082\u53c2\u8003\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"8_%E8%A8%BA%E6%96%AD%E3%81%8C%E7%A2%BA%E5%AE%9A%E3%81%99%E3%82%8B%E3%81%BE%E3%81%A7%E3%81%AE%E6%B5%81%E3%82%8C\"><\/span><strong>8. \u8a3a\u65ad\u304c\u78ba\u5b9a\u3059\u308b\u307e\u3067\u306e\u6d41\u308c<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u78ba\u5b9a\u8a3a\u65ad\u306b\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\uff08CMA\uff09\u3068\u30b9\u30c6\u30ed\u30a4\u30c9\u30b5\u30eb\u30d5\u30a1\u30bf\u30fc\u30bc\u306e\u9175\u7d20\u6d3b\u6027\u6e2c\u5b9a\u304c\u4e2d\u5fc3\u7684\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\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%BB%EF%BC%88CMA%EF%BC%89\"><\/span>\u67d3\u8272\u4f53\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u691c\u67fb\uff08CMA\uff09<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\uff08G\u5206\u67d3\u6cd5\uff09\u3067\u306f\u898b\u3064\u3051\u3089\u308c\u306a\u3044\u3001\u6570\u767ekb\u304b\u3089\u6570Mb\u5358\u4f4d\u306e\u5fae\u7d30\u306a\u6b20\u5931\u3092\u691c\u51fa\u3067\u304d\u308b\u691c\u67fb\u3067\u3059\u3002\u51fa\u751f\u524d\u3067\u3042\u308c\u3070<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>\u3001\u51fa\u751f\u5f8c\u3067\u3042\u308c\u3070\u8840\u6db2\u691c\u67fb\u3067\u884c\u308f\u308c\u3001\u6b20\u5931\u306e\u7bc4\u56f2\u304c\u3069\u3053\u304b\u3089\u3069\u3053\u307e\u3067\u304b\u3092\u8a73\u7d30\u306b\u78ba\u8a8d\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%82%B9%E3%83%86%E3%83%AD%E3%82%A4%E3%83%89%E3%82%B5%E3%83%AB%E3%83%95%E3%82%A1%E3%82%BF%E3%83%BC%E3%82%BC%E9%85%B5%E7%B4%A0%E6%B4%BB%E6%80%A7%E6%B8%AC%E5%AE%9A\"><\/span>\u30b9\u30c6\u30ed\u30a4\u30c9\u30b5\u30eb\u30d5\u30a1\u30bf\u30fc\u30bc\u9175\u7d20\u6d3b\u6027\u6e2c\u5b9a<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u76ae\u819a\u7dda\u7dad\u82bd\u7d30\u80de\u3092\u57f9\u990a\u3057\u3066\u9175\u7d20\u6d3b\u6027\u3092\u76f4\u63a5\u6e2c\u5b9a\u3059\u308b\u65b9\u6cd5\u3067\u3001\u611f\u5ea6\u306e\u9ad8\u3044\u691c\u67fb\u3068\u3057\u3066\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002CMA\u3067\u6b20\u5931\u304c\u78ba\u8a8d\u3067\u304d\u306a\u3044\u70b9\u5909\u7570\u306e\u5834\u5408\u306f\u3001\u907a\u4f1d\u5b50\u306e\u76f4\u63a5\u30b7\u30fc\u30af\u30a8\u30f3\u30b9\u89e3\u6790\u304c\u884c\u308f\u308c\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=\"FISH%E6%B3%95%E3%82%84%E4%B8%A1%E8%A6%AA%E3%81%AE%E6%A4%9C%E6%9F%BB\"><\/span>FISH\u6cd5\u3084\u4e21\u89aa\u306e\u691c\u67fb<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u7279\u5b9a\u306e\u9818\u57df\u3060\u3051\u3092\u5149\u3089\u305b\u3066\u78ba\u8a8d\u3059\u308bFISH\u6cd5\u304c\u3001\u8a3a\u65ad\u306e\u88cf\u4ed8\u3051\u306b\u4f7f\u308f\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u3042\u308f\u305b\u3066\u6bcd\u89aa\u306e\u8840\u6db2\u3092\u8abf\u3079\u308b\u3053\u3068\u3067\u3001\u6bcd\u4f53\u7531\u6765\u306a\u306e\u304b\u80ce\u5150\u3060\u3051\u306e\u5909\u5316\u306a\u306e\u304b\u3092\u5224\u5225\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u598a\u5a20\u4e2d\u306e\u30ea\u30b9\u30af\u7ba1\u7406\u306b<br \/>\nNIPT\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p>&nbsp;<\/p>\n<\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"9_%E6%B2%BB%E7%99%82%E3%83%BB%E7%AE%A1%E7%90%86%EF%BC%88%E4%BF%9D%E6%B9%BF%E3%82%B1%E3%82%A2%E3%81%A8%E5%AE%9A%E6%9C%9F%E3%83%95%E3%82%A9%E3%83%AD%E3%83%BC%EF%BC%89\"><\/span><strong>9. \u6cbb\u7642\u30fb\u7ba1\u7406\uff08\u4fdd\u6e7f\u30b1\u30a2\u3068\u5b9a\u671f\u30d5\u30a9\u30ed\u30fc\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u5931\u308f\u308c\u305f\u907a\u4f1d\u5b50\u3092\u5143\u306b\u623b\u3059\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u307e\u3060\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u76ae\u819a\u306e\u30b1\u30a2\u3068\u5b9a\u671f\u7684\u306a\u30d5\u30a9\u30ed\u30fc\u3092\u7d44\u307f\u5408\u308f\u305b\u308b\u3053\u3068\u3067\u3001\u304a\u5b50\u3055\u307e\u3089\u3057\u3044\u6210\u9577\u3092\u652f\u3048\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/strong><\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>\u65e5\u3005\u306e\u4fdd\u6e7f\u30b1\u30a2<\/strong>\uff1a \u3053\u307e\u3081\u306a\u5165\u6d74\u3068\u4fdd\u6e7f\u5264\u306e\u4f7f\u7528\u304c\u57fa\u672c\u3067\u3059\u3002\u4e73\u9178\u30fb\u5c3f\u7d20\u30fb\u30b0\u30ea\u30b3\u30fc\u30eb\u9178\u306a\u3069\u3092\u542b\u3080\u89d2\u8cea\u6eb6\u89e3\u5264\u304c\u7528\u3044\u3089\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u76ae\u819a\u75c7\u72b6\u304c\u5f37\u3044\u5834\u5408<\/strong>\uff1a \u30bf\u30b6\u30ed\u30c6\u30f3\u3084\u30a2\u30b7\u30c8\u30ec\u30c1\u30f3\u306a\u3069\u306e\u30ec\u30c1\u30ce\u30a4\u30c9\u5916\u7528\u30fb\u5185\u670d\u304c\u76ae\u819a\u79d1\u533b\u306e\u5224\u65ad\u3067\u691c\u8a0e\u3055\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u773c\u79d1\u30fb\u6ccc\u5c3f\u5668\u79d1\u306e\u5b9a\u671f\u53d7\u8a3a<\/strong>\uff1a \u89d2\u819c\u6df7\u6fc1\u306f\u81ea\u899a\u75c7\u72b6\u304c\u307b\u3068\u3093\u3069\u306a\u3044\u305f\u3081\u5b9a\u671f\u7684\u306a\u773c\u79d1\u691c\u8a3a\u3067\u7d4c\u904e\u3092\u898b\u307e\u3059\u3002\u505c\u7559\u7cbe\u5de3\u304c\u3042\u308b\u5834\u5408\u306f\u6ccc\u5c3f\u5668\u79d1\u3067\u306e\u30d5\u30a9\u30ed\u30fc\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u767a\u9054\u30fb\u884c\u52d5\u9762\u306e\u30d5\u30a9\u30ed\u30fc<\/strong>\uff1a ADHD\u50be\u5411\u3084<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\u304c\u7591\u308f\u308c\u308b\u5834\u5408\u3001\u5c0f\u5150\u79d1\u30fb\u767a\u9054\u5916\u6765\u3067\u306e\u8a55\u4fa1\u3068\u7642\u80b2\u3092\u7d44\u307f\u5408\u308f\u305b\u307e\u3059\u3002<\/li>\n<\/ol>\n\n\n\n<p>\u75c7\u72b6\u306e\u7d44\u307f\u5408\u308f\u305b\u3082\u91cd\u3055\u3082\u4e00\u4eba\u3072\u3068\u308a\u9055\u3046\u305f\u3081\u3001\u76ae\u819a\u79d1\u30fb\u5c0f\u5150\u79d1\u30fb\u773c\u79d1\u30fb\u6ccc\u5c3f\u5668\u79d1\u30fb\u907a\u4f1d\u79d1\u304c\u9023\u643a\u3057\u306a\u304c\u3089\u3001\u304a\u5b50\u3055\u307e\u306b\u5408\u308f\u305b\u305f\u652f\u63f4\u8a08\u753b\u3092\u5c11\u3057\u305a\u3064\u7d44\u307f\u7acb\u3066\u3066\u3044\u304f\u3053\u3068\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/24156031_s.jpg\" alt=\"\u8a3a\u65ad\u3092\u53d7\u3051\u305f\u5b50\u3069\u3082\u3068\u5bb6\u65cf\u304c\u5bc4\u308a\u6dfb\u3046\u69d8\u5b50\" class=\"wp-image-87708\"\/><\/figure><\/div>\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"10_%E4%BA%88%E5%BE%8C%E3%81%A8%E8%A6%8B%E9%80%9A%E3%81%97\"><\/span><strong>10. \u4e88\u5f8c\u3068\u898b\u901a\u3057<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>STS\u3060\u3051\u306e\u6b20\u5931\u3067\u3042\u308c\u3070\u3001\u76ae\u819a\u306e\u30b1\u30a2\u3092\u7d9a\u3051\u308b\u3053\u3068\u3067\u65e5\u5e38\u751f\u6d3b\u3078\u306e\u5f71\u97ff\u3092\u6291\u3048\u3089\u308c\u308b\u4f8b\u304c\u591a\u3044\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/strong><\/p>\n\n\n\n<p>\u76ae\u819a\u75c7\u72b6\u306f\u52a0\u9f62\u3068\u3068\u3082\u306b\u8efd\u5feb\u3059\u308b\u3053\u3068\u306f\u5c11\u306a\u304f\u3001\u4fdd\u6e7f\u30b1\u30a2\u3092\u7d99\u7d9a\u3059\u308b\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u3002\u4e00\u65b9\u3001\u6b20\u5931\u7bc4\u56f2\u304c\u5e83\u304f\u30ab\u30fc\u30eb\u30de\u30f3\u75c7\u5019\u7fa4\u3084\u767a\u9054\u7279\u6027\u3092\u4f34\u3046\u5834\u5408\u306f\u3001\u5185\u5206\u6ccc\u79d1\u30fb\u767a\u9054\u5916\u6765\u3092\u542b\u3081\u305f\u9577\u671f\u7684\u306a\u30d5\u30a9\u30ed\u30fc\u304c\u751f\u6d3b\u306e\u8cea\u3092\u5de6\u53f3\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u9577\u671f\u7684\u306a\u7d4c\u904e\u3092\u4e00\u5f8b\u306b\u65ad\u5b9a\u3059\u308b\u3053\u3068\u306f\u96e3\u3057\u3044\u72b6\u6cc1\u3067\u3059\u3002\u9375\u3068\u306a\u308b\u306e\u306f\u3001\u5b9a\u671f\u7684\u306a\u76ae\u819a\u79d1\u30fb\u773c\u79d1\u30fb\u767a\u9054\u8a55\u4fa1\u306b\u3088\u308b\u7d4c\u904e\u89b3\u5bdf\u3068\u3001\u65e5\u3005\u306e\u5bfe\u5fdc\u306e\u7a4d\u307f\u91cd\u306d\u3060\u3068\u79c1\u306f\u611f\u3058\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"11_%E3%81%94%E5%AE%B6%E6%97%8F%E3%81%B8%E3%81%AE%E6%94%AF%E6%8F%B4%E3%81%A8%E3%80%81%E6%AC%A1%E3%81%AE%E3%81%8A%E5%AD%90%E3%81%95%E3%81%BE%E3%82%92%E8%80%83%E3%81%88%E3%82%8B%E3%81%A8%E3%81%8D%E3%81%AB\"><\/span><strong>11. \u3054\u5bb6\u65cf\u3078\u306e\u652f\u63f4\u3068\u3001\u6b21\u306e\u304a\u5b50\u3055\u307e\u3092\u8003\u3048\u308b\u3068\u304d\u306b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u6bcd\u4f53\u7531\u6765\u304b\u65b0\u751f\u306e\u5909\u5316\u304b\u306b\u3088\u3063\u3066\u6b21\u306e\u304a\u5b50\u3055\u307e\u3078\u306e\u5f71\u97ff\u304c\u5909\u308f\u308b\u305f\u3081\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3092\u8ef8\u306b\u60c5\u5831\u3092\u6574\u7406\u3057\u3066\u3044\u304f\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/strong><\/p>\n\n\n\n<p>\u76ae\u819a\u306e\u75c7\u72b6\u3060\u3051\u3092\u898b\u308b\u3068\u73cd\u3057\u3044\u75c5\u6c17\u306b\u611f\u3058\u3089\u308c\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u304c\u3001\u76ae\u819a\u79d1\u3067\u306e\u65e5\u5e38\u7684\u306a\u30b1\u30a2\u3068\u3001\u81e8\u5e8a\u907a\u4f1d\u5c02\u9580\u533b\u30fb\u8a8d\u5b9a\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u306b\u3088\u308b\u30b5\u30dd\u30fc\u30c8\u3092\u7d44\u307f\u5408\u308f\u305b\u308b\u3053\u3068\u3067\u5bfe\u5fdc\u3067\u304d\u307e\u3059\u3002\u533b\u7642\u7684\u306a\u7ba1\u7406\u306f\u533b\u5e2b\u3084\u7642\u80b2\u30b9\u30bf\u30c3\u30d5\u306b\u4efb\u305b\u3001\u3054\u5bb6\u65cf\u306e\u5f79\u5272\u306f\u76ee\u306e\u524d\u306e\u304a\u5b50\u3055\u307e\u306e\u5c0f\u3055\u306a\u6210\u9577\u3092\u4e00\u7dd2\u306b\u559c\u3076\u3053\u3068\u3060\u3068\u8003\u3048\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4ed6\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u75c7\u5019\u7fa4\u3084\u3001\u6027\u67d3\u8272\u4f53\u306b\u304b\u304b\u308f\u308b\u75c5\u6c17\u306b\u3064\u3044\u3066\u6c17\u306b\u306a\u308b\u65b9\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-detectable-conditions\/\">NIPT\u3067\u898b\u3064\u304b\u308b\u53ef\u80fd\u6027\u306e\u3042\u308b\u969c\u5bb3\u306b\u3064\u3044\u3066\u306e\u8a18\u4e8b<\/a>\u3082\u3042\u308f\u305b\u3066\u3054\u78ba\u8a8d\u304f\u3060\u3055\u3044\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\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>\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\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=\"Xp2231%E5%BE%AE%E5%B0%8F%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%A7%E3%81%99%E3%81%8B%E3%80%82\"><\/span>Xp22.31\u5fae\u5c0f\u6b20\u5931\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>X\u67d3\u8272\u4f53\u306e\u77ed\u815522.31\u306b\u3042\u308b\u9818\u57df\u304c\u751f\u307e\u308c\u3064\u304d\u6b20\u3051\u3066\u3044\u308b\u3053\u3068\u3067\u8d77\u3053\u308b\u75be\u60a3\u7fa4\u3067\u3059\u3002\u6700\u3082\u591a\u3044\u306e\u306fSTS\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u306b\u3088\u308bX\u9023\u9396\u6027\u9b5a\u9c57\u766c\u3067\u3001\u76ae\u819a\u304c\u4e7e\u71e5\u3057\u3066\u3046\u308d\u3053\u72b6\u306b\u306a\u308b\u75c7\u72b6\u304c\u4e2d\u5fc3\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%AA%E3%81%9C%E7%94%B7%E6%80%A7%E3%81%A8%E5%A5%B3%E6%80%A7%E3%81%A7%E7%97%87%E7%8A%B6%E3%81%AE%E9%87%8D%E3%81%95%E3%81%8C%E9%81%95%E3%81%86%E3%81%AE%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u306a\u305c\u7537\u6027\u3068\u5973\u6027\u3067\u75c7\u72b6\u306e\u91cd\u3055\u304c\u9055\u3046\u306e\u3067\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>X\u9023\u9396\u6f5c\u6027\u306e\u907a\u4f1d\u5f62\u5f0f\u306e\u305f\u3081\u3067\u3059\u3002X\u67d3\u8272\u4f53\u30921\u672c\u3057\u304b\u6301\u305f\u306a\u3044\u7537\u6027\u306f\u6b20\u5931\u304c\u3042\u308b\u3068\u307b\u307c\u78ba\u5b9f\u306b\u767a\u75c7\u3057\u307e\u3059\u304c\u3001X\u67d3\u8272\u4f53\u30922\u672c\u6301\u3064\u5973\u6027\u306f\u3082\u3046\u7247\u65b9\u304c\u6b63\u5e38\u306a\u3089\u57fa\u672c\u7684\u306b\u7121\u75c7\u72b6\u306e\u4fdd\u56e0\u8005\u306b\u3068\u3069\u307e\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%A4%A7%E3%81%8D%E3%81%AA%E6%AC%A0%E5%A4%B1%E3%81%8C%E3%81%82%E3%82%8B%E3%81%A8%E3%82%AB%E3%83%BC%E3%83%AB%E3%83%9E%E3%83%B3%E7%97%87%E5%80%99%E7%BE%A4%E3%82%82%E4%BD%B5%E7%99%BA%E3%81%97%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u5927\u304d\u306a\u6b20\u5931\u304c\u3042\u308b\u3068\u30ab\u30fc\u30eb\u30de\u30f3\u75c7\u5019\u7fa4\u3082\u4f75\u767a\u3057\u307e\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6b20\u5931\u306e\u7bc4\u56f2\u304cANOS1\u907a\u4f1d\u5b50\u306b\u307e\u3067\u53ca\u3076\u5834\u5408\u3001\u55c5\u899a\u8131\u5931\u3092\u4f34\u3046\u6027\u817a\u523a\u6fc0\u30db\u30eb\u30e2\u30f3\u5206\u6ccc\u4f4e\u4e0b\u75c7\u3067\u3042\u308b\u30ab\u30fc\u30eb\u30de\u30f3\u75c7\u5019\u7fa4\u3092\u5408\u4f75\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u6b20\u5931\u7bc4\u56f2\u306b\u3088\u3063\u3066\u968f\u4f34\u3059\u308b\u75c7\u72b6\u306e\u5e45\u304c\u5909\u308f\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%93%E3%81%AE%E7%97%85%E6%B0%97%E3%81%AFNIPT%E3%81%A7%E5%88%86%E3%81%8B%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u3053\u306e\u75c5\u6c17\u306fNIPT\u3067\u5206\u304b\u308a\u307e\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u3092\u5bfe\u8c61\u306b\u542b\u3080\u62e1\u5f35NIPT\u3067\u5019\u88dc\u306b\u3042\u304c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u691c\u51fa\u3055\u308c\u305f\u6b20\u5931\u30b7\u30b0\u30ca\u30eb\u306f\u6bcd\u4f53\u7531\u6765\u3067\u3042\u308b\u53ef\u80fd\u6027\u304c\u9ad8\u3044\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u967d\u6027\u6240\u898b\u304c\u51fa\u305f\u5834\u5408\u306f\u3001\u6bcd\u89aa\u306e\u691c\u67fb\u3068<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u306b\u3088\u308b\u78ba\u5b9a\u691c\u67fb\u3092\u7d44\u307f\u5408\u308f\u305b\u3066\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>\u591a\u304f\u306f\u6bcd\u89aa\u304c\u4fdd\u56e0\u8005\u3067\u3042\u308b\u3053\u3068\u306b\u7531\u6765\u3057\u3001\u606f\u5b50\u306b\u306f\u7d042\u5206\u306e1\u306e\u78ba\u7387\u3067\u767a\u75c7\u3057\u3001\u5a18\u306b\u306f\u7d042\u5206\u306e1\u306e\u78ba\u7387\u3067\u4fdd\u56e0\u8005\u3068\u3057\u3066\u4f1d\u308f\u308a\u307e\u3059\u3002\u307e\u308c\u306b\u65b0\u751f\u306e\u5909\u5316\u3068\u3057\u3066\u751f\u3058\u308b\u3053\u3068\u3082\u3042\u308b\u305f\u3081\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u306e\u78ba\u8a8d\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\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>\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u307e\u3060\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u4fdd\u6e7f\u5264\u3084\u89d2\u8cea\u6eb6\u89e3\u5264\u306b\u3088\u308b\u65e5\u3005\u306e\u30b1\u30a2\u3001\u75c7\u72b6\u304c\u5f37\u3044\u5834\u5408\u306e\u30ec\u30c1\u30ce\u30a4\u30c9\u5916\u7528\u30fb\u5185\u670d\u3067\u5bfe\u5fdc\u3057\u307e\u3059\u3002\u89d2\u819c\u6df7\u6fc1\u3084\u505c\u7559\u7cbe\u5de3\u3001\u767a\u9054\u9762\u306e\u7279\u6027\u306b\u3064\u3044\u3066\u306f\u305d\u308c\u305e\u308c\u306e\u5c02\u9580\u79d1\u3067\u306e\u5b9a\u671f\u30d5\u30a9\u30ed\u30fc\u304c\u884c\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u76e3\u4fee\uff1a\u5ca1\u535a\u53f2\uff08\u304a\u304b \u3072\u308d\u3057\uff09<\/strong> \/ \u533b\u7642\u6cd5\u4eba\u793e\u56e3\u798f\u7f8e\u4f1a \u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u7d71\u62ec\u9662\u9577\u30fbLabo Director\u3002\u6176\u61c9\u7fa9\u587e\u5927\u5b66\u533b\u5b66\u90e8\u5352\u696d\u3002\u65e5\u672c\u3068\u30a2\u30e1\u30ea\u30ab\u306e\u533b\u5e2b\u56fd\u5bb6\u8a66\u9a13\u306b\u5408\u683c\u3057\u3001\u533b\u5b66\u535a\u58eb\u3002\u56fd\u5185\u3067\u3082\u6570\u5c11\u306a\u3044\u30e9\u30dc\u30c7\u30a3\u30ec\u30af\u30bf\u30fc\u8cc7\u683c\u3092\u4fdd\u6709\u3057\u3066\u3044\u307e\u3059\u3002\u672c\u8a18\u4e8b\u306f\u533b\u7642\u5e83\u544a\u30ac\u30a4\u30c9\u30e9\u30a4\u30f3\u306b\u914d\u616e\u3057\u3001GeneReviews\u30fbOrphanet\u30fb\u65e5\u672c\u7523\u79d1\u5a66\u4eba\u79d1\u5b66\u4f1a\u30fb\u539a\u751f\u52b4\u50cd\u7701\u306a\u3069\u306e\u516c\u7684\u6a5f\u95a2\u30fb\u5b66\u4f1a\u60c5\u5831\u304a\u3088\u3073\u5b66\u8853\u8ad6\u6587\u3092\u53c2\u7167\u3057\u3066\u4f5c\u6210\u3057\u3066\u3044\u307e\u3059\u3002\u8a18\u8f09\u306e\u983b\u5ea6\u30fb\u6570\u5024\u306f\u6587\u732e\u306b\u3088\u308a\u5e45\u304c\u3042\u308a\u307e\u3059\u3002\u8a3a\u65ad\u30fb\u6cbb\u7642\u306e\u6700\u7d42\u5224\u65ad\u306f\u62c5\u5f53\u533b\u306b\u3054\u76f8\u8ac7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u598a\u5a20\u4e2d\u306e\u30ea\u30b9\u30af\u7ba1\u7406\u306b<br \/>\nNIPT\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p>&nbsp;<\/p>\n<\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%BC%95%E7%94%A8%E6%96%87%E7%8C%AE\"><\/span>\u5f15\u7528\u6587\u732e<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK448149\/\" target=\"_blank\" rel=\"noopener\">Hussain S, et al. X-Linked Ichthyosis. StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.orpha.net\/en\/disease\/detail\/1643\" target=\"_blank\" rel=\"noopener\">Orphanet. Xp22.3 microdeletion syndrome. ORPHA:1643.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC9471005\/\" target=\"_blank\" rel=\"noopener\">Tang X, Wang Z, Yang S, Chen M, Zhang Y, Zhang F, Tan J, Yin T, Wang L. (2022). Maternal Xp22.31 copy-number variations detected in non-invasive prenatal screening effectively guide the prenatal diagnosis of X-linked ichthyosis. <em>Frontiers in Genetics<\/em>, 13, 934952. https:\/\/doi.org\/10.3389\/fgene.2022.934952<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1334\/\">Balasubramanian R, Crowley WF Jr. Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency. 2007 May 23 [Updated 2022 May 12]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1334\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1159\/000458469\">Nagai, K., Shima, H., Kamimura, M., Kanno, J., Suzuki, E., Ishiguro, A., Narumi, S., Kure, S., Fujiwara, I., &amp; Fukami, M. (2017). Xp22.31 Microdeletion due to Microhomology-Mediated Break-Induced Replication in a Boy with Contiguous Gene Deletion Syndrome. <em>Cytogenetic and genome research<\/em>, <em>151<\/em>(1), 1\u20134. https:\/\/doi.org\/10.1159\/000458469<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.jsog.or.jp\/news\/pdf\/NIPT_kaiteishishin.pdf\" target=\"_blank\" rel=\"noopener\">\u516c\u76ca\u793e\u56e3\u6cd5\u4eba\u65e5\u672c\u7523\u79d1\u5a66\u4eba\u79d1\u5b66\u4f1a. NIPT\u306b\u95a2\u3059\u308b\u6307\u91dd.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.mhlw.go.jp\/content\/000783387.pdf\" target=\"_blank\" rel=\"noopener\">\u539a\u751f\u52b4\u50cd\u7701. NIPT\u7b49\u306e\u51fa\u751f\u524d\u691c\u67fb\u306b\u95a2\u3059\u308b\u5c02\u9580\u59d4\u54e1\u4f1a\u5831\u544a\u66f8.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1093\/nar\/gkae974\">Perez, G., Barber, G. P., Benet-Pages, A., Casper, J., Clawson, H., Diekhans, M., Fischer, C., Gonzalez, J. N., Hinrichs, A. S., Lee, C. M., Nassar, L. R., Raney, B. J., Speir, M. L., van Baren, M. J., Vaske, C. J., Haussler, D., Kent, W. J., &amp; Haeussler, M. (2024). The UCSC Genome Browser database: 2025 update. Nucleic Acids Research, gkae974. https:\/\/doi.org\/10.1093\/nar\/gkae974<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1093\/nar\/gkad1049\">Harrison, P. W., Amode, M. R., Austine-Orimoloye, O., Azov, A. G., Barba, M., Barnes, I., Becker, A., Bennett, R., Berry, A., Bhai, J., Bhurji, S. K., Boddu, S., Branco Lins, P. R., Brooks, L., Budhanuru Ramaraju, S., Campbell, L. I., Carbajo Martinez, M., Charkhchi, M., Chougule, K., \u2026 Yates, A. D. (2024). Ensembl 2024. Nucleic Acids Research, 52(D1), D891\u2013D899. https:\/\/doi.org\/10.1093\/nar\/gkad1049<\/a><\/li>\n<\/ul>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u598a\u5a20\u4e2d\u306e\u30ea\u30b9\u30af\u7ba1\u7406\u306b<br \/>\nNIPT\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p>&nbsp;<\/p>\n<\/div>\n<\/div>\n\n\n<script type=\"application\/ld+json\">\n{\n  \"@context\": \"https:\/\/schema.org\",\n  \"@type\": \"FAQPage\",\n  \"mainEntity\": [\n    {\n      \"@type\": \"Question\",\n      \"name\": \"Xp22.31\u5fae\u5c0f\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u306f\u3069\u306e\u3088\u3046\u306a\u75c5\u6c17\u3067\u3059\u304b\u3002\",\n      \"acceptedAnswer\": {\n        \"@type\": \"Answer\",\n        \"text\": 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