{"id":121687,"date":"2026-01-07T16:40:55","date_gmt":"2026-01-07T07:40:55","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=121687"},"modified":"2026-03-04T09:32:33","modified_gmt":"2026-03-04T00:32:33","slug":"chromosome-xp21-deletion-syndrome","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-xp21-deletion-syndrome\/","title":{"rendered":"\u67d3\u8272\u4f53Xp21\u6b20\u5931\u75c7\u5019\u7fa4\u306b\u3064\u3044\u3066"},"content":{"rendered":"<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"585\" src=\"\/nipt\/wp-content\/uploads\/2025\/11\/image-82-1024x585.webp\" alt=\"\" class=\"wp-image-119745\"\/><\/figure><\/div>\n\n\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_82_2 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">\u76ee\u6b21<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" height=\"10px\" viewBox=\"0 0 24 24\" version=\"1.2\" baseProfile=\"tiny\"><path d=\"M18.2 9.3l-6.2-6.3-6.2 6.3c-.2.2-.3.4-.3.7s.1.5.3.7c.2.2.4.3.7.3h11c.3 0 .5-.1.7-.3.2-.2.3-.5.3-.7s-.1-.5-.3-.7zM5.8 14.7l6.2 6.3 6.2-6.3c.2-.2.3-.5.3-.7s-.1-.5-.3-.7c-.2-.2-.4-.3-.7-.3h-11c-.3 0-.5.1-.7.3-.2.2-.3.5-.3.7s.1.5.3.7z\"\/><\/svg><\/span><\/span><\/span><\/a><\/span><\/div>\n<nav><ul class='ez-toc-list ez-toc-list-level-1 ' ><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-1\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-xp21-deletion-syndrome\/#%E3%81%AF%E3%81%98%E3%82%81%E3%81%AB\" >\u306f\u3058\u3081\u306b<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-xp21-deletion-syndrome\/#1_%E6%A6%82%E8%A6%81%EF%BC%9A%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E7%97%85%E6%B0%97%E3%81%8B\" >1. \u6982\u8981\uff1a\u3069\u306e\u3088\u3046\u306a\u75c5\u6c17\u304b<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-xp21-deletion-syndrome\/#%E3%80%8C%E9%9A%A3%E3%82%8A%E5%90%88%E3%81%A3%E3%81%9F%E9%81%BA%E4%BC%9D%E5%AD%90%E3%80%8D%E3%81%8C%E4%B8%80%E7%B7%92%E3%81%AB%E5%A4%B1%E3%82%8F%E3%82%8C%E3%82%8B%E7%97%85%E6%B0%97\" >\u300c\u96a3\u308a\u5408\u3063\u305f\u907a\u4f1d\u5b50\u300d\u304c\u4e00\u7dd2\u306b\u5931\u308f\u308c\u308b\u75c5\u6c17<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-xp21-deletion-syndrome\/#%E5%88%A5%E3%81%AE%E5%91%BC%E3%81%B3%E6%96%B9%E3%81%AB%E3%81%A4%E3%81%84%E3%81%A6\" >\u5225\u306e\u547c\u3073\u65b9\u306b\u3064\u3044\u3066<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-xp21-deletion-syndrome\/#2_%E4%B8%BB%E3%81%AA%E7%97%87%E7%8A%B6%E3%81%A8%E5%8E%9F%E5%9B%A0%E3%81%A8%E3%81%AA%E3%82%8B%E9%81%BA%E4%BC%9D%E5%AD%90\" >2. \u4e3b\u306a\u75c7\u72b6\u3068\u539f\u56e0\u3068\u306a\u308b\u907a\u4f1d\u5b50<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-xp21-deletion-syndrome\/#%E2%91%A0_%E9%80%B2%E8%A1%8C%E6%80%A7%E3%81%AE%E7%AD%8B%E5%8A%9B%E4%BD%8E%E4%B8%8B%EF%BC%88DMD%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AE%E6%AC%A0%E5%A4%B1%EF%BC%89\" >\u2460 \u9032\u884c\u6027\u306e\u7b4b\u529b\u4f4e\u4e0b\uff08DMD\u907a\u4f1d\u5b50\u306e\u6b20\u5931\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-xp21-deletion-syndrome\/#%E2%91%A1_%E5%89%AF%E8%85%8E%E6%A9%9F%E8%83%BD%E3%81%AE%E4%BD%8E%E4%B8%8B%EF%BC%88NROB1DAX1%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AE%E6%AC%A0%E5%A4%B1%EF%BC%89\" >\u2461 \u526f\u814e\u6a5f\u80fd\u306e\u4f4e\u4e0b\uff08NROB1\/DAX1\u907a\u4f1d\u5b50\u306e\u6b20\u5931\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-xp21-deletion-syndrome\/#%E2%91%A2_%E4%BB%A3%E8%AC%9D%E3%81%AE%E7%95%B0%E5%B8%B8%EF%BC%88GK%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AE%E6%AC%A0%E5%A4%B1%EF%BC%89\" >\u2462 \u4ee3\u8b1d\u306e\u7570\u5e38\uff08GK\u907a\u4f1d\u5b50\u306e\u6b20\u5931\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-xp21-deletion-syndrome\/#%E2%91%A3_%E3%81%9D%E3%81%AE%E4%BB%96%E3%81%AE%E7%97%87%E7%8A%B6\" >\u2463 \u305d\u306e\u4ed6\u306e\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-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-xp21-deletion-syndrome\/#3_%E5%8E%9F%E5%9B%A0%E3%81%A8%E9%81%BA%E4%BC%9D%E3%81%AE%E3%81%97%E3%81%8F%E3%81%BF\" >3. \u539f\u56e0\u3068\u907a\u4f1d\u306e\u3057\u304f\u307f<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-xp21-deletion-syndrome\/#%E3%81%AA%E3%81%9C%E8%B5%B7%E3%81%93%E3%82%8B%E3%81%AE%E3%81%8B\" >\u306a\u305c\u8d77\u3053\u308b\u306e\u304b<\/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\/chromosome-xp21-deletion-syndrome\/#%E9%81%BA%E4%BC%9D%E5%BD%A2%E5%BC%8F%EF%BC%9AX%E9%80%A3%E9%8E%96%E6%80%A7%E6%BD%9C%E6%80%A7%E9%81%BA%E4%BC%9D%EF%BC%88X%E3%82%8C%E3%82%93%E3%81%95%E3%81%9B%E3%81%84%E3%81%9B%E3%82%93%E3%81%9B%E3%81%84%E3%81%84%E3%81%A7%E3%82%93%EF%BC%89\" >\u907a\u4f1d\u5f62\u5f0f\uff1aX\u9023\u9396\u6027\u6f5c\u6027\u907a\u4f1d\uff08X\u308c\u3093\u3055\u305b\u3044\u305b\u3093\u305b\u3044\u3044\u3067\u3093\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-13\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-xp21-deletion-syndrome\/#%E6%AF%8D%E8%A6%AA%E3%81%8C%E4%BF%9D%E5%9B%A0%E8%80%85%E3%81%AE%E5%A0%B4%E5%90%88%E3%81%A8%E3%80%81%E3%81%9D%E3%81%86%E3%81%A7%E3%81%AA%E3%81%84%E5%A0%B4%E5%90%88\" >\u6bcd\u89aa\u304c\u4fdd\u56e0\u8005\u306e\u5834\u5408\u3068\u3001\u305d\u3046\u3067\u306a\u3044\u5834\u5408<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-xp21-deletion-syndrome\/#4_%E8%A8%BA%E6%96%AD%E3%81%A8%E6%A4%9C%E6%9F%BB\" >4. \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-15\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-xp21-deletion-syndrome\/#%E8%A1%80%E6%B6%B2%E6%A4%9C%E6%9F%BB%E3%83%BB%E5%B0%BF%E6%A4%9C%E6%9F%BB\" >\u8840\u6db2\u691c\u67fb\u30fb\u5c3f\u691c\u67fb<\/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\/chromosome-xp21-deletion-syndrome\/#%E9%81%BA%E4%BC%9D%E5%AD%A6%E7%9A%84%E6%A4%9C%E6%9F%BB\" >\u907a\u4f1d\u5b66\u7684\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\/chromosome-xp21-deletion-syndrome\/#5_%E6%B2%BB%E7%99%82%E3%81%A8%E7%AE%A1%E7%90%86\" >5. \u6cbb\u7642\u3068\u7ba1\u7406<\/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\/chromosome-xp21-deletion-syndrome\/#%E2%91%A0_%E5%89%AF%E8%85%8E%E6%A9%9F%E8%83%BD%E4%B8%8D%E5%85%A8%E3%81%B8%E3%81%AE%E5%AF%BE%E5%BF%9C%EF%BC%88%E6%9C%80%E5%84%AA%E5%85%88%EF%BC%89\" >\u2460 \u526f\u814e\u6a5f\u80fd\u4e0d\u5168\u3078\u306e\u5bfe\u5fdc\uff08\u6700\u512a\u5148\uff09<\/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\/chromosome-xp21-deletion-syndrome\/#%E2%91%A1_%E7%AD%8B%E3%82%B8%E3%82%B9%E3%83%88%E3%83%AD%E3%83%95%E3%82%A3%E3%83%BC%E3%81%B8%E3%81%AE%E5%AF%BE%E5%BF%9C\" >\u2461 \u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u3078\u306e\u5bfe\u5fdc<\/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\/chromosome-xp21-deletion-syndrome\/#%E2%91%A2_%E4%BB%A3%E8%AC%9D%E3%83%BB%E6%A0%84%E9%A4%8A%E7%AE%A1%E7%90%86\" >\u2462 \u4ee3\u8b1d\u30fb\u6804\u990a\u7ba1\u7406<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-21\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-xp21-deletion-syndrome\/#%E2%91%A3_%E7%99%BA%E9%81%94%E3%83%BB%E6%95%99%E8%82%B2%E7%9A%84%E6%94%AF%E6%8F%B4\" >\u2463 \u767a\u9054\u30fb\u6559\u80b2\u7684\u652f\u63f4<\/a><\/li><\/ul><\/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\/chromosome-xp21-deletion-syndrome\/#6_%E6%97%A5%E5%B8%B8%E7%94%9F%E6%B4%BB%E3%81%A7%E3%81%AE%E3%83%9D%E3%82%A4%E3%83%B3%E3%83%88%E3%81%A8Q_A\" >6. \u65e5\u5e38\u751f\u6d3b\u3067\u306e\u30dd\u30a4\u30f3\u30c8\u3068Q&amp;A<\/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\/chromosome-xp21-deletion-syndrome\/#Q_%E6%99%AE%E9%80%9A%E3%81%AE%E5%AD%A6%E6%A0%A1%E3%81%AB%E9%80%9A%E3%81%88%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\" >Q. \u666e\u901a\u306e\u5b66\u6821\u306b\u901a\u3048\u307e\u3059\u304b\uff1f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-24\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-xp21-deletion-syndrome\/#Q_%E5%B0%86%E6%9D%A5%E3%81%AE%E3%81%93%E3%81%A8%E3%81%AF%E3%81%A9%E3%81%86%E8%80%83%E3%81%88%E3%82%8C%E3%81%B0%E3%81%84%E3%81%84%E3%81%A7%E3%81%99%E3%81%8B%EF%BC%9F\" >Q. \u5c06\u6765\u306e\u3053\u3068\u306f\u3069\u3046\u8003\u3048\u308c\u3070\u3044\u3044\u3067\u3059\u304b\uff1f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-25\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-xp21-deletion-syndrome\/#Q_%E5%85%84%E5%BC%9F%E3%81%B8%E3%81%AE%E9%81%BA%E4%BC%9D%E3%81%AF%E3%81%82%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\" >Q. \u5144\u5f1f\u3078\u306e\u907a\u4f1d\u306f\u3042\u308a\u307e\u3059\u304b\uff1f<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-26\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-xp21-deletion-syndrome\/#7_%E3%81%BE%E3%81%A8%E3%82%81\" >7. \u307e\u3068\u3081<\/a><\/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\/chromosome-xp21-deletion-syndrome\/#8_%E8%A8%BA%E6%96%AD%E3%82%92%E5%8F%97%E3%81%91%E3%81%9F%E3%81%94%E5%AE%B6%E6%97%8F%E3%81%B8\" >8. \u8a3a\u65ad\u3092\u53d7\u3051\u305f\u3054\u5bb6\u65cf\u3078<\/a><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%AF%E3%81%98%E3%82%81%E3%81%AB\"><\/span><strong>\u306f\u3058\u3081\u306b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u304a\u5b50\u69d8\u3084\u3054\u5bb6\u65cf\u304c\u300c\u67d3\u8272\u4f53Xp21\u6b20\u5931\u75c7\u5019\u7fa4\uff08Xp21\u6b20\u5931\u75c7\u5019\u7fa4\uff09\u300d\u3068\u3044\u3046\u8a3a\u65ad\u3092\u53d7\u3051\u3001\u4e0d\u5b89\u3084\u6238\u60d1\u3044\u3092\u611f\u3058\u3066\u3044\u3089\u3063\u3057\u3083\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002\u3053\u306e\u75c5\u6c17\u306f\u975e\u5e38\u306b\u7a00\u3067\u3042\u308a\u3001\u805e\u304d\u306a\u308c\u306a\u3044\u533b\u5b66\u7528\u8a9e\u3082\u591a\u3044\u305f\u3081\u3001\u60c5\u5831\u3092\u6574\u7406\u3059\u308b\u3060\u3051\u3067\u3082\u5927\u5909\u306a\u3053\u3068\u3068\u601d\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u8a18\u4e8b\u306f\u3001\u3053\u306e\u75c5\u6c17\u304c\u3069\u306e\u3088\u3046\u306a\u3082\u306e\u304b\u3001\u65e5\u5e38\u751f\u6d3b\u3067\u4f55\u306b\u6c17\u3092\u3064\u3051\u308c\u3070\u3088\u3044\u306e\u304b\u3092\u3001\u3067\u304d\u308b\u3060\u3051\u5206\u304b\u308a\u3084\u3059\u304f\u89e3\u8aac\u3059\u308b\u305f\u3081\u306b\u4f5c\u6210\u3055\u308c\u307e\u3057\u305f\u3002\u533b\u5b66\u7684\u306a\u8a73\u7d30\u3060\u3051\u3067\u306a\u304f\u3001\u751f\u6d3b\u4e0a\u306e\u6ce8\u610f\u70b9\u3084\u3054\u5bb6\u65cf\u3078\u306e\u30e1\u30c3\u30bb\u30fc\u30b8\u3082\u8a18\u8f09\u3057\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u8a18\u4e8b\u304c\u3001\u3053\u308c\u304b\u3089\u306e\u6b69\u307f\u3092\u652f\u3048\u308b\u9053\u3057\u308b\u3079\u306e\u4e00\u3064\u3068\u306a\u308c\u3070\u5e78\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E6%A6%82%E8%A6%81%EF%BC%9A%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E7%97%85%E6%B0%97%E3%81%8B\"><\/span><strong>1. \u6982\u8981\uff1a\u3069\u306e\u3088\u3046\u306a\u75c5\u6c17\u304b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%80%8C%E9%9A%A3%E3%82%8A%E5%90%88%E3%81%A3%E3%81%9F%E9%81%BA%E4%BC%9D%E5%AD%90%E3%80%8D%E3%81%8C%E4%B8%80%E7%B7%92%E3%81%AB%E5%A4%B1%E3%82%8F%E3%82%8C%E3%82%8B%E7%97%85%E6%B0%97\"><\/span><strong>\u300c\u96a3\u308a\u5408\u3063\u305f\u907a\u4f1d\u5b50\u300d\u304c\u4e00\u7dd2\u306b\u5931\u308f\u308c\u308b\u75c5\u6c17<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u79c1\u305f\u3061\u306e\u4f53\u306f\u3001\u7d0437\u5146\u500b\u306e\u7d30\u80de\u3067\u3067\u304d\u3066\u304a\u308a\u3001\u305d\u306e\u4e2d\u5fc3\u306b\u306f\u300c\u67d3\u8272\u4f53\u300d\u3068\u3044\u3046\u907a\u4f1d\u60c5\u5831\u306e\u8a2d\u8a08\u56f3\u304c\u5165\u3063\u3066\u3044\u307e\u3059\u3002\u67d3\u8272\u4f53Xp21\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u3001\u6027\u67d3\u8272\u4f53\u306e\u4e00\u3064\u3067\u3042\u308b<strong>X\u67d3\u8272\u4f53\u306e\u300cp21\u300d\u3068\u3044\u3046\u7279\u5b9a\u306e\u5834\u6240<\/strong>\u306b\u3042\u308b\u907a\u4f1d\u5b50\u304c\u3001\u5fae\u7d30\u306b\u6b20\u3051\u3066\u3057\u307e\u3046\uff08\u6b20\u5931\u3059\u308b\uff09\u3053\u3068\u3067\u8d77\u3053\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u300cp21\u300d\u3068\u3044\u3046\u5834\u6240\u306b\u306f\u3001\u79c1\u305f\u3061\u306e\u4f53\u306e\u6a5f\u80fd\u3092\u652f\u3048\u308b\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u304c\u3044\u304f\u3064\u304b<strong>\u96a3\u308a\u5408\u3063\u3066\u4e26\u3093\u3067<\/strong>\u3044\u307e\u3059\u3002\u3053\u306e\u75c5\u6c17\u306e\u6700\u5927\u306e\u7279\u5fb4\u306f\u3001\u4e00\u3064\u306e\u907a\u4f1d\u5b50\u3060\u3051\u3067\u306a\u304f\u3001\u96a3\u308a\u5408\u3046\u8907\u6570\u306e\u907a\u4f1d\u5b50\u304c\u307e\u3068\u3081\u3066\u6b20\u5931\u3057\u3066\u3057\u307e\u3046\u70b9\u306b\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u3092\u5c02\u9580\u7528\u8a9e\u3067\u96a3\u63a5\u907a\u4f1d\u5b50\u75c7\u5019\u7fa4\uff08\u308a\u3093\u305b\u3064\u3044\u3067\u3093\u3057\u3057\u3087\u3046\u3053\u3046\u3050\u3093\uff09\u3068\u547c\u3073\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%88%A5%E3%81%AE%E5%91%BC%E3%81%B3%E6%96%B9%E3%81%AB%E3%81%A4%E3%81%84%E3%81%A6\"><\/span><strong>\u5225\u306e\u547c\u3073\u65b9\u306b\u3064\u3044\u3066<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306f\u3001\u6b20\u5931\u3057\u3066\u3044\u308b\u907a\u4f1d\u5b50\u306e\u7d44\u307f\u5408\u308f\u305b\u306b\u3088\u3063\u3066\u3001\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u540d\u524d\u3067\u547c\u3070\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8907\u5408\u578b\u30b0\u30ea\u30bb\u30ed\u30fc\u30eb\u30ad\u30ca\u30fc\u30bc\u6b20\u640d\u75c7<\/strong><\/li>\n\n\n\n<li><strong>Xp21\u96a3\u63a5\u907a\u4f1d\u5b50\u6b20\u5931\u75c7\u5019\u7fa4<\/strong><\/li>\n<\/ul>\n\n\n\n<p>\u3069\u306e\u907a\u4f1d\u5b50\u304c\u6b20\u3051\u3066\u3044\u308b\u304b\u306b\u3088\u3063\u3066\u75c7\u72b6\u306e\u73fe\u308c\u65b9\u306f\u7570\u306a\u308a\u307e\u3059\u304c\u3001\u57fa\u672c\u7684\u306b\u306f<strong>\u7b4b\u8089\u3001\u526f\u814e\uff08\u30db\u30eb\u30e2\u30f3\uff09\u3001\u4ee3\u8b1d<\/strong>\u306e3\u3064\u306e\u6a5f\u80fd\u306b\u95a2\u308f\u308b\u554f\u984c\u304c\u540c\u6642\u306b\u8d77\u3053\u308a\u3084\u3059\u3044\u306e\u304c\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E4%B8%BB%E3%81%AA%E7%97%87%E7%8A%B6%E3%81%A8%E5%8E%9F%E5%9B%A0%E3%81%A8%E3%81%AA%E3%82%8B%E9%81%BA%E4%BC%9D%E5%AD%90\"><\/span><strong>2. \u4e3b\u306a\u75c7\u72b6\u3068\u539f\u56e0\u3068\u306a\u308b\u907a\u4f1d\u5b50<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u3053\u306e\u75c7\u5019\u7fa4\u306e\u75c7\u72b6\u306f\u3001\u300c\u3069\u306e\u907a\u4f1d\u5b50\u304c\u6b20\u3051\u3066\u3044\u308b\u304b\u300d\u306b\u3088\u3063\u3066\u6c7a\u307e\u308a\u307e\u3059\u3002Xp21\u9818\u57df\u306b\u306f\u3001\u4e3b\u306b\u4ee5\u4e0b\u306e3\u3064\u306e\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u304c\u4e26\u3093\u3067\u3044\u307e\u3059\u3002\u3053\u308c\u3089\u304c\u6b20\u5931\u3059\u308b\u3053\u3068\u3067\u3001\u305d\u308c\u305e\u308c\u306e\u907a\u4f1d\u5b50\u306b\u95a2\u9023\u3057\u305f\u75c5\u6c17\u304c\u5408\u4f75\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A0_%E9%80%B2%E8%A1%8C%E6%80%A7%E3%81%AE%E7%AD%8B%E5%8A%9B%E4%BD%8E%E4%B8%8B%EF%BC%88DMD%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AE%E6%AC%A0%E5%A4%B1%EF%BC%89\"><\/span><strong>\u2460 \u9032\u884c\u6027\u306e\u7b4b\u529b\u4f4e\u4e0b\uff08DMD\u907a\u4f1d\u5b50\u306e\u6b20\u5931\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u95a2\u9023\u3059\u308b\u75c5\u540d:<\/strong> \u30c7\u30e5\u30b7\u30a7\u30f3\u30cc\u578b\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\uff08DMD\uff09<\/li>\n\n\n\n<li><strong>\u89e3\u8aac:<\/strong> \u7b4b\u8089\u306e\u7d30\u80de\u3092\u7dad\u6301\u3059\u308b\u305f\u3081\u306b\u5fc5\u8981\u306a\u300c\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30f3\u300d\u3068\u3044\u3046\u30bf\u30f3\u30d1\u30af\u8cea\u304c\u4f5c\u308c\u306a\u304f\u306a\u308b\u72b6\u614b\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4e3b\u306a\u75c7\u72b6:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6b69\u304d\u59cb\u3081\u304c\u9045\u3044\u3001\u8ee2\u3073\u3084\u3059\u3044\u3002<\/li>\n\n\n\n<li><strong>\u30ac\u30ef\u30fc\u30ba\u5fb4\u5019\uff08\u767b\u6500\u6027\u8d77\u7acb\uff09:<\/strong> \u5e8a\u304b\u3089\u7acb\u3061\u4e0a\u304c\u308b\u6642\u306b\u3001\u81ea\u5206\u306e\u819d\u3084\u592a\u3082\u3082\u306b\u624b\u3092\u3064\u3044\u3066\u3001\u3088\u3058\u767b\u308b\u3088\u3046\u306b\u7acb\u3064\u4ed5\u8349\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3075\u304f\u3089\u306f\u304e\u304c\u786c\u304f\u592a\u304f\u306a\u308b\uff08\u4eee\u6027\u80a5\u5927\uff09\u3002<\/li>\n\n\n\n<li>\u5e74\u9f62\u3068\u3068\u3082\u306b\u7b4b\u529b\u304c\u4f4e\u4e0b\u3057\u3001\u5c06\u6765\u7684\u306b\u306f\u8eca\u6905\u5b50\u3084\u547c\u5438\u306e\u30b5\u30dd\u30fc\u30c8\u304c\u5fc5\u8981\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A1_%E5%89%AF%E8%85%8E%E6%A9%9F%E8%83%BD%E3%81%AE%E4%BD%8E%E4%B8%8B%EF%BC%88NROB1DAX1%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AE%E6%AC%A0%E5%A4%B1%EF%BC%89\"><\/span><strong>\u2461 \u526f\u814e\u6a5f\u80fd\u306e\u4f4e\u4e0b\uff08NROB1\/DAX1\u907a\u4f1d\u5b50\u306e\u6b20\u5931\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u95a2\u9023\u3059\u308b\u75c5\u540d:<\/strong> \u5148\u5929\u6027\u526f\u814e\u4f4e\u5f62\u6210\u75c7\uff08AHC\uff09<\/li>\n\n\n\n<li><strong>\u89e3\u8aac:<\/strong> \u814e\u81d3\u306e\u4e0a\u306b\u3042\u308b\u300c\u526f\u814e\u300d\u3068\u3044\u3046\u81d3\u5668\u304c\u3046\u307e\u304f\u80b2\u305f\u305a\u3001\u751f\u304d\u3066\u3044\u304f\u305f\u3081\u306b\u4e0d\u53ef\u6b20\u306a\u30db\u30eb\u30e2\u30f3\uff08\u30b3\u30eb\u30c1\u30be\u30fc\u30eb\u3084\u30a2\u30eb\u30c9\u30b9\u30c6\u30ed\u30f3\u306a\u3069\uff09\u3092\u4f5c\u308c\u306a\u304f\u306a\u308b\u72b6\u614b\u3067\u3059\u3002<strong>\u3053\u306e\u75c7\u72b6\u306f\u547d\u306b\u95a2\u308f\u308b\u305f\u3081\u3001\u6700\u3082\u65e9\u671f\u306e\u5bfe\u5fdc\u304c\u5fc5\u8981\u3067\u3059\u3002<\/strong><\/li>\n\n\n\n<li><strong>\u4e3b\u306a\u75c7\u72b6:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u5869\u5206\u55aa\u5931:<\/strong> \u4f53\u5185\u306e\u5869\u5206\u304c\u5c3f\u3068\u3057\u3066\u51fa\u3066\u884c\u3063\u3066\u3057\u307e\u3044\u3001\u8131\u6c34\u3092\u8d77\u3053\u3057\u3084\u3059\u3044\u3002<\/li>\n\n\n\n<li>\u76ae\u819a\u306e\u8272\u7d20\u6c88\u7740\uff08\u76ae\u819a\u304c\u9ed2\u3063\u307d\u304f\u306a\u308b\uff09\u3002<\/li>\n\n\n\n<li>\u54fa\u4e73\u529b\u304c\u5f31\u3044\u3001\u4f53\u91cd\u304c\u5897\u3048\u306a\u3044\u3001\u5143\u6c17\u304c\u306a\u304f\u3050\u3063\u305f\u308a\u3057\u3066\u3044\u308b\u3002<\/li>\n\n\n\n<li><strong>\u526f\u814e\u4e0d\u5168\uff08\u526f\u814e\u30af\u30ea\u30fc\u30bc\uff09:<\/strong> \u30b9\u30c8\u30ec\u30b9\uff08\u767a\u71b1\u3084\u611f\u67d3\u75c7\u306a\u3069\uff09\u304c\u304b\u304b\u3063\u305f\u6642\u306b\u3001\u30b7\u30e7\u30c3\u30af\u72b6\u614b\u306b\u9665\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A2_%E4%BB%A3%E8%AC%9D%E3%81%AE%E7%95%B0%E5%B8%B8%EF%BC%88GK%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AE%E6%AC%A0%E5%A4%B1%EF%BC%89\"><\/span><strong>\u2462 \u4ee3\u8b1d\u306e\u7570\u5e38\uff08GK\u907a\u4f1d\u5b50\u306e\u6b20\u5931\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u95a2\u9023\u3059\u308b\u75c5\u540d:<\/strong> \u30b0\u30ea\u30bb\u30ed\u30fc\u30eb\u30ad\u30ca\u30fc\u30bc\u6b20\u640d\u75c7<\/li>\n\n\n\n<li><strong>\u89e3\u8aac:<\/strong> \u8102\u80aa\u306e\u5206\u89e3\u904e\u7a0b\u3067\u751f\u3058\u308b\u300c\u30b0\u30ea\u30bb\u30ed\u30fc\u30eb\u300d\u3068\u3044\u3046\u7269\u8cea\u3092\u30a8\u30cd\u30eb\u30ae\u30fc\u306b\u5909\u3048\u308b\u9175\u7d20\u304c\u50cd\u304b\u306a\u3044\u72b6\u614b\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4e3b\u306a\u75c7\u72b6:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8840\u6db2\u4e2d\u3084\u5c3f\u4e2d\u306e\u30b0\u30ea\u30bb\u30ed\u30fc\u30eb\u6fc3\u5ea6\u304c\u9ad8\u304f\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5358\u72ec\u3067\u306f\u75c7\u72b6\u304c\u8efd\u3044\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u4ed6\u306e\u75c7\u72b6\u3068\u5408\u308f\u3055\u308b\u3053\u3068\u3067\u3001\u4f4e\u8840\u7cd6\u3084\u5614\u5410\u3001\u610f\u8b58\u969c\u5bb3\u306a\u3069\u3092\u5f15\u304d\u8d77\u3053\u3059\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A3_%E3%81%9D%E3%81%AE%E4%BB%96%E3%81%AE%E7%97%87%E7%8A%B6\"><\/span><strong>\u2463 \u305d\u306e\u4ed6\u306e\u75c7\u72b6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6b20\u5931\u306e\u7bc4\u56f2\u304c\u5e83\u3044\u5834\u5408\u3001\u4e0a\u8a18\u4ee5\u5916\u306b\u3082\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u75c7\u72b6\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u77e5\u7684\u767a\u9054\u75c7\uff08<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\uff09:<\/strong> <em>IL1RAPL1<\/em> \u306a\u3069\u306e\u8133\u306e\u6a5f\u80fd\u306b\u95a2\u308f\u308b\u907a\u4f1d\u5b50\u3084\u3001\u30c7\u30e5\u30b7\u30a7\u30f3\u30cc\u578b\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u81ea\u4f53\u306b\u95a2\u9023\u3057\u3066\u3001\u8a00\u8449\u306e\u9045\u308c\u3084\u5b66\u7fd2\u306e\u56f0\u96e3\u3055\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30aa\u30eb\u30cb\u30c1\u30f3\u30fb\u30c8\u30e9\u30f3\u30b9\u30ab\u30eb\u30d0\u30df\u30e9\u30fc\u30bc\uff08OTC\uff09\u6b20\u640d\u75c7:<\/strong> \u307e\u308c\u306b\u6b20\u5931\u7bc4\u56f2\u304c\u5e83\u304c\u308a\u3001\u30a2\u30f3\u30e2\u30cb\u30a2\u3092\u5206\u89e3\u3059\u308b\u907a\u4f1d\u5b50\u307e\u3067\u5f71\u97ff\u3092\u53d7\u3051\u308b\u3068\u3001\u9ad8\u30a2\u30f3\u30e2\u30cb\u30a2\u8840\u75c7\u3092\u5408\u4f75\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E5%8E%9F%E5%9B%A0%E3%81%A8%E9%81%BA%E4%BC%9D%E3%81%AE%E3%81%97%E3%81%8F%E3%81%BF\"><\/span><strong>3. \u539f\u56e0\u3068\u907a\u4f1d\u306e\u3057\u304f\u307f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%AA%E3%81%9C%E8%B5%B7%E3%81%93%E3%82%8B%E3%81%AE%E3%81%8B\"><\/span><strong>\u306a\u305c\u8d77\u3053\u308b\u306e\u304b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u591a\u304f\u306e\u5834\u5408\u306f\u3001\u5375\u5b50\u3084\u7cbe\u5b50\u304c\u4f5c\u3089\u308c\u308b\u904e\u7a0b\u3001\u3042\u308b\u3044\u306f\u53d7\u7cbe\u5375\u304c\u7d30\u80de\u5206\u88c2\u3092\u3059\u308b\u3054\u304f\u521d\u671f\u306e\u6bb5\u968e\u3067\u3001\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u5076\u7136\u5931\u308f\u308c\u308b\u3053\u3068\uff08\u7a81\u7136\u5909\u7570\uff09\u3067\u767a\u751f\u3057\u307e\u3059\u3002\u8ab0\u306e\u305b\u3044\u3067\u3082\u306a\u304f\u3001\u5076\u7136\u306b\u8d77\u3053\u308b\u81ea\u7136\u73fe\u8c61\u306e\u4e00\u3064\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%BA%E4%BC%9D%E5%BD%A2%E5%BC%8F%EF%BC%9AX%E9%80%A3%E9%8E%96%E6%80%A7%E6%BD%9C%E6%80%A7%E9%81%BA%E4%BC%9D%EF%BC%88X%E3%82%8C%E3%82%93%E3%81%95%E3%81%9B%E3%81%84%E3%81%9B%E3%82%93%E3%81%9B%E3%81%84%E3%81%84%E3%81%A7%E3%82%93%EF%BC%89\"><\/span><strong>\u907a\u4f1d\u5f62\u5f0f\uff1aX\u9023\u9396\u6027\u6f5c\u6027\u907a\u4f1d\uff08X\u308c\u3093\u3055\u305b\u3044\u305b\u3093\u305b\u3044\u3044\u3067\u3093\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306f\u3001\u6027\u67d3\u8272\u4f53\u3067\u3042\u308bX\u67d3\u8272\u4f53\u4e0a\u306e\u7570\u5e38\u3067\u3042\u308b\u305f\u3081\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/testing\/#anchor_sex\">\u6027\u5225<\/a>\u306b\u3088\u3063\u3066\u73fe\u308c\u65b9\u304c\u7570\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7537\u5150\uff08XY\uff09:<\/strong> X\u67d3\u8272\u4f53\u30921\u672c\u3057\u304b\u6301\u3063\u3066\u3044\u307e\u305b\u3093\u3002\u305d\u306eX\u67d3\u8272\u4f53\u306ep21\u9818\u57df\u304c\u6b20\u5931\u3059\u308b\u3068\u3001\u4ed6\u306b\u88dc\u3063\u3066\u304f\u308c\u308b\u907a\u4f1d\u5b50\u304c\u306a\u3044\u305f\u3081\u3001\u5fc5\u305a\u767a\u75c7\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5973\u5150\uff08XX\uff09:<\/strong> X\u67d3\u8272\u4f53\u30922\u672c\u6301\u3063\u3066\u3044\u307e\u3059\u3002\u7247\u65b9\u306eX\u67d3\u8272\u4f53\u306b\u6b20\u5931\u304c\u3042\u3063\u3066\u3082\u3001\u3082\u3046\u7247\u65b9\u306e\u6b63\u5e38\u306aX\u67d3\u8272\u4f53\u304c\u6a5f\u80fd\u3092\u88dc\u3046\u305f\u3081\u3001\u591a\u304f\u306e\u5834\u5408\u306f\u767a\u75c7\u3057\u307e\u305b\u3093\uff08\u4fdd\u56e0\u8005\u3068\u306a\u308a\u307e\u3059\uff09\u3002\u305f\u3060\u3057\u3001\u7a00\u306b\u75c7\u72b6\u304c\u51fa\u305f\u308a\u3001\u8efd\u5ea6\u306e\u75c7\u72b6\u304c\u898b\u3089\u308c\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%AF%8D%E8%A6%AA%E3%81%8C%E4%BF%9D%E5%9B%A0%E8%80%85%E3%81%AE%E5%A0%B4%E5%90%88%E3%81%A8%E3%80%81%E3%81%9D%E3%81%86%E3%81%A7%E3%81%AA%E3%81%84%E5%A0%B4%E5%90%88\"><\/span><strong>\u6bcd\u89aa\u304c\u4fdd\u56e0\u8005\u306e\u5834\u5408\u3068\u3001\u305d\u3046\u3067\u306a\u3044\u5834\u5408<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5b64\u767a\u4f8b\uff08de novo\uff09:<\/strong> \u304a\u6bcd\u69d8\u306e\u907a\u4f1d\u5b50\u306b\u306f\u5168\u304f\u7570\u5e38\u304c\u306a\u304f\u3001\u304a\u5b50\u69d8\u306e\u4ee3\u3067\u521d\u3081\u3066\u7a81\u7136\u5909\u7570\u3068\u3057\u3066\u767a\u75c7\u3059\u308b\u30b1\u30fc\u30b9\u3067\u3059\uff08\u5168\u4f53\u306e\u7d043\u5206\u306e2\u3068\u8a00\u308f\u308c\u3066\u3044\u307e\u3059\uff09\u3002<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u6027:<\/strong> \u304a\u6bcd\u69d8\u304c\u4fdd\u56e0\u8005\u3067\u3042\u308a\u3001\u305d\u308c\u304c\u304a\u5b50\u69d8\u306b\u53d7\u3051\u7d99\u304c\u308c\u305f\u30b1\u30fc\u30b9\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u6b21\u306e\u304a\u5b50\u69d8\u3092\u5e0c\u671b\u3055\u308c\u308b\u5834\u5408\u306a\u3069\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3092\u53d7\u3051\u308b\u3053\u3068\u3067\u3001\u3088\u308a\u8a73\u3057\u3044\u30ea\u30b9\u30af\u8a55\u4fa1\u3092\u884c\u3046\u3053\u3068\u304c\u3067\u304d\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\/2026\/01\/24273313_s.webp\" alt=\"\u533b\u8005\" class=\"wp-image-121555\"\/><\/figure><\/div>\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E8%A8%BA%E6%96%AD%E3%81%A8%E6%A4%9C%E6%9F%BB\"><\/span><strong>4. \u8a3a\u65ad\u3068\u691c\u67fb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u8a3a\u65ad\u3092\u78ba\u5b9a\u3057\u3001\u3069\u306e\u7bc4\u56f2\u307e\u3067\u907a\u4f1d\u5b50\u304c\u6b20\u3051\u3066\u3044\u308b\u304b\u3092\u77e5\u308b\u305f\u3081\u306b\u3001\u3044\u304f\u3064\u304b\u306e\u691c\u67fb\u304c\u884c\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%A1%80%E6%B6%B2%E6%A4%9C%E6%9F%BB%E3%83%BB%E5%B0%BF%E6%A4%9C%E6%9F%BB\"><\/span><strong>\u8840\u6db2\u691c\u67fb\u30fb\u5c3f\u691c\u67fb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6700\u521d\u306b\u884c\u308f\u308c\u308b\u4e00\u822c\u7684\u306a\u691c\u67fb\u3067\u3001\u75c5\u6c17\u306e\u5146\u5019\u3092\u898b\u3064\u3051\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>CK\uff08\u30af\u30ec\u30a2\u30c1\u30f3\u30ad\u30ca\u30fc\u30bc\uff09\u5024:<\/strong> \u7b4b\u8089\u306e\u58ca\u308c\u3084\u3059\u3055\u3092\u793a\u3059\u6570\u5024\u3067\u3059\u3002DMD\u907a\u4f1d\u5b50\u304c\u6b20\u5931\u3057\u3066\u3044\u308b\u3068\u3001\u975e\u5e38\u306b\u9ad8\u3044\u5024\uff08\u6570\u5343\u301c\u6570\u4e07\uff09\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u96fb\u89e3\u8cea\uff08\u30ca\u30c8\u30ea\u30a6\u30e0\u30fb\u30ab\u30ea\u30a6\u30e0\uff09:<\/strong> \u526f\u814e\u6a5f\u80fd\u4f4e\u4e0b\u304c\u3042\u308b\u5834\u5408\u3001\u30ca\u30c8\u30ea\u30a6\u30e0\u304c\u4f4e\u304f\u3001\u30ab\u30ea\u30a6\u30e0\u304c\u9ad8\u304f\u306a\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30b0\u30ea\u30bb\u30ed\u30fc\u30eb\u5024:<\/strong> \u8840\u6db2\u4e2d\u304a\u3088\u3073\u5c3f\u4e2d\u306e\u30b0\u30ea\u30bb\u30ed\u30fc\u30eb\u6fc3\u5ea6\u304c\u8457\u3057\u304f\u4e0a\u6607\u3057\u3066\u3044\u308b\u304b\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%BA%E4%BC%9D%E5%AD%A6%E7%9A%84%E6%A4%9C%E6%9F%BB\"><\/span><strong>\u907a\u4f1d\u5b66\u7684\u691c\u67fb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u78ba\u5b9a\u8a3a\u65ad\u306e\u305f\u3081\u306b\u884c\u308f\u308c\u308b\u7cbe\u5bc6\u691c\u67fb\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>FISH\u6cd5\uff08\u30d5\u30a3\u30c3\u30b7\u30e5\u6cd5\uff09:<\/strong> \u7279\u5b9a\u306e\u907a\u4f1d\u5b50\u304c\u3042\u308b\u304b\u3069\u3046\u304b\u3092\u3001\u86cd\u5149\u8272\u7d20\u3092\u4f7f\u3063\u3066\u5149\u3089\u305b\u3066\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09:<\/strong> \u67d3\u8272\u4f53\u306e\u5168\u9818\u57df\u3092\u7d30\u304b\u304f\u30b9\u30ad\u30e3\u30f3\u3057\u3001\u5fae\u7d30\u306a\u6b20\u5931\u306e\u7bc4\u56f2\u3092\u6b63\u78ba\u306b\u7279\u5b9a\u3057\u307e\u3059\u3002\u3053\u308c\u306b\u3088\u308a\u3001\u3069\u306e\u907a\u4f1d\u5b50\u304c\u6b20\u3051\u3066\u3044\u3066\u3001\u3069\u306e\u907a\u4f1d\u5b50\u304c\u6b8b\u3063\u3066\u3044\u308b\u304b\u3092\u8a73\u7d30\u306b\u77e5\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>MLPA\u6cd5:<\/strong> \u7279\u5b9a\u306e\u907a\u4f1d\u5b50\u306e\u30b3\u30d4\u30fc\u6570\u3092\u8abf\u3079\u308b\u691c\u67fb\u3067\u3001DMD\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u7bc4\u56f2\u306a\u3069\u3092\u8abf\u3079\u308b\u969b\u306b\u3088\u304f\u7528\u3044\u3089\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"5_%E6%B2%BB%E7%99%82%E3%81%A8%E7%AE%A1%E7%90%86\"><\/span><strong>5. \u6cbb\u7642\u3068\u7ba1\u7406<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u73fe\u5728\u306e\u533b\u7642\u3067\u306f\u3001\u5931\u308f\u308c\u305f\u907a\u4f1d\u5b50\u3092\u5143\u306b\u623b\u3057\u3066\u75c5\u6c17\u305d\u306e\u3082\u306e\u3092\u5b8c\u6cbb\u3055\u305b\u308b\u6cbb\u7642\u6cd5\u306f\u307e\u3060\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002\u3057\u304b\u3057\u3001<strong>\u305d\u308c\u305e\u308c\u306e\u75c7\u72b6\u306b\u5bfe\u3057\u3066\u9069\u5207\u306a\u6cbb\u7642\u3092\u884c\u3046\u3053\u3068\u3067\u3001\u5408\u4f75\u75c7\u3092\u9632\u304e\u3001\u751f\u6d3b\u306e\u8cea\uff08QOL\uff09\u3092\u7dad\u6301\u30fb\u5411\u4e0a\u3055\u305b\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/strong><\/p>\n\n\n\n<p>\u6cbb\u7642\u306f\u300c\u5bfe\u75c7\u7642\u6cd5\u300d\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u3001\u8907\u6570\u306e\u8a3a\u7642\u79d1\uff08\u5c0f\u5150\u79d1\u3001\u5185\u5206\u6ccc\u79d1\u3001\u795e\u7d4c\u5185\u79d1\u3001\u6574\u5f62\u5916\u79d1\u3001\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u79d1\u306a\u3069\uff09\u304c\u30c1\u30fc\u30e0\u3068\u306a\u3063\u3066\u30b5\u30dd\u30fc\u30c8\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A0_%E5%89%AF%E8%85%8E%E6%A9%9F%E8%83%BD%E4%B8%8D%E5%85%A8%E3%81%B8%E3%81%AE%E5%AF%BE%E5%BF%9C%EF%BC%88%E6%9C%80%E5%84%AA%E5%85%88%EF%BC%89\"><\/span><strong>\u2460 \u526f\u814e\u6a5f\u80fd\u4e0d\u5168\u3078\u306e\u5bfe\u5fdc\uff08\u6700\u512a\u5148\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u547d\u3092\u5b88\u308b\u305f\u3081\u306b\u6700\u3082\u91cd\u8981\u306a\u7ba1\u7406\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30db\u30eb\u30e2\u30f3\u88dc\u5145\u7642\u6cd5:<\/strong> \u4f53\u304c\u4f5c\u308c\u306a\u3044\u30db\u30eb\u30e2\u30f3\uff08\u30d2\u30c9\u30ed\u30b3\u30eb\u30c1\u30be\u30f3\u3084\u30d5\u30eb\u30c9\u30ed\u30b3\u30eb\u30c1\u30be\u30f3\uff09\u3092\u98f2\u307f\u85ac\u3067\u6bce\u65e5\u88dc\u5145\u3057\u307e\u3059\u3002\u3053\u308c\u306b\u3088\u308a\u3001\u5065\u5e38\u306a\u5150\u3068\u540c\u3058\u3088\u3046\u306b\u751f\u6d3b\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30b7\u30c3\u30af\u30c7\u30a4\uff08Sick day\uff09\u306e\u5bfe\u5fdc:<\/strong> \u767a\u71b1\u3001\u5614\u5410\u3001\u4e0b\u75e2\u3001\u602a\u6211\u306a\u3069\u306e\u30b9\u30c8\u30ec\u30b9\u304c\u304b\u304b\u3063\u305f\u6642\u306f\u3001\u666e\u6bb5\u3088\u308a\u591a\u304f\u306e\u30db\u30eb\u30e2\u30f3\u304c\u5fc5\u8981\u306b\u306a\u308a\u307e\u3059\u3002\n<ul class=\"wp-block-list\">\n<li>\u666e\u6bb5\u306e2\u301c3\u500d\u306e\u91cf\u306e\u85ac\u3092\u98f2\u3080\u3002<\/li>\n\n\n\n<li>\u98f2\u3081\u306a\u3044\u5834\u5408\u3084\u5614\u5410\u3057\u3066\u3057\u307e\u3046\u5834\u5408\u306f\u3001\u3059\u3050\u306b\u75c5\u9662\u3067\u70b9\u6ef4\u3092\u53d7\u3051\u308b\u3002<\/li>\n\n\n\n<li><strong>\u300c\u526f\u814e\u30af\u30ea\u30fc\u30bc\uff08\u30b7\u30e7\u30c3\u30af\u72b6\u614b\uff09\u300d\u3092\u9632\u3050\u305f\u3081\u306e\u7dca\u6025\u5bfe\u5fdc\u30de\u30cb\u30e5\u30a2\u30eb<\/strong>\u3092\u4e3b\u6cbb\u533b\u3068\u4f5c\u6210\u3057\u3001\u5bb6\u65cf\u3084\u5b66\u6821\u3068\u5171\u6709\u3057\u3066\u304a\u304f\u3053\u3068\u304c\u6975\u3081\u3066\u91cd\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A1_%E7%AD%8B%E3%82%B8%E3%82%B9%E3%83%88%E3%83%AD%E3%83%95%E3%82%A3%E3%83%BC%E3%81%B8%E3%81%AE%E5%AF%BE%E5%BF%9C\"><\/span><strong>\u2461 \u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u3078\u306e\u5bfe\u5fdc<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30b9\u30c6\u30ed\u30a4\u30c9\u6cbb\u7642:<\/strong> \u7b4b\u529b\u306e\u4f4e\u4e0b\u3092\u9045\u3089\u305b\u308b\u52b9\u679c\u304c\u671f\u5f85\u3067\u304d\u308b\u5834\u5408\u304c\u3042\u308a\u3001\u5e74\u9f62\u3084\u72b6\u614b\u306b\u5fdc\u3058\u3066\u691c\u8a0e\u3055\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3:<\/strong> \u95a2\u7bc0\u304c\u786c\u304f\u306a\u308b\uff08\u62d8\u7e2e\uff09\u306e\u3092\u9632\u3050\u305f\u3081\u306e\u30b9\u30c8\u30ec\u30c3\u30c1\u3084\u3001\u9069\u5ea6\u306a\u904b\u52d5\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5fc3\u81d3\u30fb\u547c\u5438\u306e\u7ba1\u7406:<\/strong> \u5b9a\u671f\u7684\u306a\u5fc3\u81d3\u8d85\u97f3\u6ce2\u691c\u67fb\u3084\u5fc3\u96fb\u56f3\u3001\u547c\u5438\u6a5f\u80fd\u691c\u67fb\u3092\u884c\u3044\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u65e9\u671f\u304b\u3089\u4fdd\u8b77\u85ac\u3092\u958b\u59cb\u3057\u305f\u308a\u3001\u547c\u5438\u306e\u30b5\u30dd\u30fc\u30c8\u3092\u884c\u3063\u305f\u308a\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A2_%E4%BB%A3%E8%AC%9D%E3%83%BB%E6%A0%84%E9%A4%8A%E7%AE%A1%E7%90%86\"><\/span><strong>\u2462 \u4ee3\u8b1d\u30fb\u6804\u990a\u7ba1\u7406<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u98df\u4e8b:<\/strong> \u30b0\u30ea\u30bb\u30ed\u30fc\u30eb\u30ad\u30ca\u30fc\u30bc\u6b20\u640d\u75c7\u306b\u5bfe\u3057\u3066\u306f\u3001\u9577\u6642\u9593\u306e\u7d76\u98df\u3092\u907f\u3051\u305f\u308a\u3001\u4f4e\u8102\u80aa\u98df\u304c\u63a8\u5968\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u53b3\u5bc6\u306a\u5236\u9650\u304c\u5fc5\u8981\u304b\u3069\u3046\u304b\u306f\u500b\u3005\u306e\u72b6\u614b\u306b\u3088\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4f53\u91cd\u7ba1\u7406:<\/strong> \u7b4b\u529b\u304c\u4f4e\u4e0b\u3059\u308b\u3068\u904b\u52d5\u91cf\u304c\u6e1b\u308b\u4e00\u65b9\u3067\u3001\u30b9\u30c6\u30ed\u30a4\u30c9\u85ac\u306e\u5f71\u97ff\u3067\u98df\u6b32\u304c\u5897\u3057\u3001\u80a5\u6e80\u306b\u306a\u308a\u3084\u3059\u304f\u306a\u308a\u307e\u3059\u3002\u80a5\u6e80\u306f\u7b4b\u8089\u3084\u5fc3\u81d3\u3078\u306e\u8ca0\u62c5\u3068\u306a\u308b\u305f\u3081\u3001\u6804\u990a\u30d0\u30e9\u30f3\u30b9\u306e\u53d6\u308c\u305f\u98df\u4e8b\u304c\u5927\u5207\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A3_%E7%99%BA%E9%81%94%E3%83%BB%E6%95%99%E8%82%B2%E7%9A%84%E6%94%AF%E6%8F%B4\"><\/span><strong>\u2463 \u767a\u9054\u30fb\u6559\u80b2\u7684\u652f\u63f4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7642\u80b2:<\/strong> \u8a00\u8449\u3084\u904b\u52d5\u306e\u767a\u9054\u306b\u9045\u308c\u304c\u3042\u308b\u5834\u5408\u3001\u65e9\u671f\u304b\u3089\u7406\u5b66\u7642\u6cd5\uff08PT\uff09\u3001\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09\u3001\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09\u306a\u3069\u306e\u7642\u80b2\u3092\u53d7\u3051\u308b\u3053\u3068\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5b66\u6821\u751f\u6d3b:<\/strong> \u304a\u5b50\u69d8\u306e\u8eab\u4f53\u7684\u30fb\u77e5\u7684\u306a\u7279\u6027\u306b\u5408\u308f\u305b\u3066\u3001\u7279\u5225\u652f\u63f4\u5b66\u7d1a\u3084\u901a\u7d1a\u6307\u5c0e\u6559\u5ba4\u3001\u7279\u5225\u652f\u63f4\u5b66\u6821\u306a\u3069\u3001\u6700\u9069\u306a\u5b66\u7fd2\u74b0\u5883\u3092\u9078\u629e\u3057\u307e\u3059\u3002\u5b66\u6821\u5074\u306b\u306f\u3001\u526f\u814e\u4e0d\u5168\u306e\u7dca\u6025\u5bfe\u5fdc\uff08\u30b7\u30c3\u30af\u30c7\u30a4\u306e\u5bfe\u5fdc\uff09\u3084\u3001\u8ee2\u5012\u3078\u306e\u914d\u616e\u306a\u3069\u3092\u5177\u4f53\u7684\u306b\u4f1d\u3048\u3066\u304a\u304f\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"6_%E6%97%A5%E5%B8%B8%E7%94%9F%E6%B4%BB%E3%81%A7%E3%81%AE%E3%83%9D%E3%82%A4%E3%83%B3%E3%83%88%E3%81%A8Q_A\"><\/span><strong>6. \u65e5\u5e38\u751f\u6d3b\u3067\u306e\u30dd\u30a4\u30f3\u30c8\u3068Q&amp;A<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_%E6%99%AE%E9%80%9A%E3%81%AE%E5%AD%A6%E6%A0%A1%E3%81%AB%E9%80%9A%E3%81%88%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span><strong>Q. \u666e\u901a\u306e\u5b66\u6821\u306b\u901a\u3048\u307e\u3059\u304b\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p><strong>A.<\/strong> \u304a\u5b50\u69d8\u306e\u7b4b\u529b\u3084\u4f53\u8abf\u3001\u767a\u9054\u306e\u72b6\u614b\u306b\u3088\u308a\u307e\u3059\u304c\u3001\u901a\u308f\u308c\u3066\u3044\u308b\u304a\u5b50\u69d8\u3082\u3044\u3089\u3063\u3057\u3083\u3044\u307e\u3059\u3002\u305f\u3060\u3057\u3001\u4ee5\u4e0b\u306e\u70b9\u306b\u3064\u3044\u3066\u5b66\u6821\u3068\u5bc6\u306b\u9023\u643a\u3059\u308b\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4f53\u80b2:<\/strong> \u904e\u5ea6\u306a\u904b\u52d5\u306f\u7b4b\u8089\u306b\u8ca0\u62c5\u3092\u304b\u3051\u308b\u305f\u3081\u3001\u898b\u5b66\u3084\u5225\u30e1\u30cb\u30e5\u30fc\u306e\u8abf\u6574\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7dca\u6025\u6642:<\/strong> \u767a\u71b1\u3084\u602a\u6211\u306e\u969b\u306b\u3001\u3059\u3050\u306b\u4fdd\u8b77\u8005\u306b\u9023\u7d61\u304c\u3044\u304f\u4f53\u5236\u3084\u3001\u6551\u6025\u642c\u9001\u306e\u624b\u9806\u3092\u6c7a\u3081\u3066\u304a\u304f\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u79fb\u52d5:<\/strong> \u968e\u6bb5\u306e\u6607\u964d\u304c\u96e3\u3057\u3044\u5834\u5408\u306f\u3001\u30a8\u30ec\u30d9\u30fc\u30bf\u30fc\u306e\u4f7f\u7528\u3084\u6559\u5ba4\u914d\u7f6e\u306e\u914d\u616e\u3092\u4f9d\u983c\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_%E5%B0%86%E6%9D%A5%E3%81%AE%E3%81%93%E3%81%A8%E3%81%AF%E3%81%A9%E3%81%86%E8%80%83%E3%81%88%E3%82%8C%E3%81%B0%E3%81%84%E3%81%84%E3%81%A7%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span><strong>Q. \u5c06\u6765\u306e\u3053\u3068\u306f\u3069\u3046\u8003\u3048\u308c\u3070\u3044\u3044\u3067\u3059\u304b\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p><strong>A.<\/strong> \u533b\u7642\u306e\u9032\u6b69\u306b\u3088\u308a\u3001\u30c7\u30e5\u30b7\u30a7\u30f3\u30cc\u578b\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u306e\u6cbb\u7642\u6cd5\u3084\u547c\u5438\u7ba1\u7406\u6280\u8853\u306f\u5e74\u3005\u5411\u4e0a\u3057\u3066\u3044\u307e\u3059\u3002\u907a\u4f1d\u5b50\u6cbb\u7642\u306e\u7814\u7a76\u3082\u4e16\u754c\u4e2d\u3067\u9032\u3081\u3089\u308c\u3066\u3044\u307e\u3059\u3002 \u6210\u4eba\u5f8c\u3082\u3001\u8eca\u6905\u5b50\u3092\u6d3b\u7528\u3057\u306a\u304c\u3089\u5927\u5b66\u9032\u5b66\u3084\u5c31\u52b4\u3001\u8da3\u5473\u306e\u6d3b\u52d5\u3092\u697d\u3057\u3093\u3067\u3044\u308b\u65b9\u306f\u305f\u304f\u3055\u3093\u3044\u307e\u3059\u3002\u9577\u671f\u7684\u306a\u8996\u70b9\u3092\u6301\u3061\u3064\u3064\u3001\u307e\u305a\u306f\u300c\u4eca\u306e\u751f\u6d3b\u300d\u3092\u5b89\u5b9a\u3055\u305b\u308b\u3053\u3068\u306b\u6ce8\u529b\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_%E5%85%84%E5%BC%9F%E3%81%B8%E3%81%AE%E9%81%BA%E4%BC%9D%E3%81%AF%E3%81%82%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span><strong>Q. \u5144\u5f1f\u3078\u306e\u907a\u4f1d\u306f\u3042\u308a\u307e\u3059\u304b\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p><strong>A.<\/strong> \u304a\u6bcd\u69d8\u304c\u4fdd\u56e0\u8005\u3067\u3042\u308b\u304b\u3069\u3046\u304b\u306b\u3088\u308a\u307e\u3059\u3002\u304a\u6bcd\u69d8\u304c\u4fdd\u56e0\u8005\u306e\u5834\u5408\u3001\u7537\u5150\u304c\u751f\u307e\u308c\u308b\u306850%\u306e\u78ba\u7387\u3067\u767a\u75c7\u3057\u3001\u5973\u5150\u304c\u751f\u307e\u308c\u308b\u306850%\u306e\u78ba\u7387\u3067\u4fdd\u56e0\u8005\u3068\u306a\u308a\u307e\u3059\u3002\u304a\u6bcd\u69d8\u304c\u4fdd\u56e0\u8005\u3067\u306a\u3044\uff08\u7a81\u7136\u5909\u7570\u306e\uff09\u5834\u5408\u306f\u3001\u6b21\u306e\u304a\u5b50\u69d8\u304c\u767a\u75c7\u3059\u308b\u78ba\u7387\u306f\u975e\u5e38\u306b\u4f4e\u304f\u306a\u308a\u307e\u3059\u3002\u6b63\u78ba\u306a\u60c5\u5831\u306f\u3001\u81e8\u5e8a\u907a\u4f1d\u5c02\u9580\u533b\u3084\u8a8d\u5b9a\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u3068\u306e\u76f8\u8ac7\u3092\u304a\u52e7\u3081\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"7_%E3%81%BE%E3%81%A8%E3%82%81\"><\/span><strong>7. \u307e\u3068\u3081<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u67d3\u8272\u4f53Xp21\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u3001\u8907\u6570\u306e\u75c7\u72b6\u304c\u7d44\u307f\u5408\u308f\u3055\u3063\u305f\u8907\u96d1\u306a\u75c5\u6c17\u3067\u3059\u3002\u8981\u70b9\u3092\u632f\u308a\u8fd4\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>3\u3064\u306e\u4e3b\u8981\u306a\u554f\u984c:<\/strong> \u7b4b\u8089\uff08DMD\uff09\u3001\u526f\u814e\uff08AHC\uff09\u3001\u4ee3\u8b1d\uff08GK\uff09\u306e\u554f\u984c\u304c\u5408\u4f75\u3059\u308b\u300c\u96a3\u63a5\u907a\u4f1d\u5b50\u75c7\u5019\u7fa4\u300d\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u526f\u814e\u306e\u7ba1\u7406\u304c\u547d\u7db1:<\/strong> \u6bce\u65e5\u306e\u30db\u30eb\u30e2\u30f3\u85ac\u306e\u5185\u670d\u3068\u3001\u4f53\u8abf\u4e0d\u826f\u6642\uff08\u30b7\u30c3\u30af\u30c7\u30a4\uff09\u306e\u8fc5\u901f\u306a\u5bfe\u5fdc\u304c\u3001\u547d\u3092\u5b88\u308b\u305f\u3081\u306b\u6700\u3082\u91cd\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7b4b\u8089\u306e\u30b1\u30a2:<\/strong> \u5b9a\u671f\u7684\u306a\u30ea\u30cf\u30d3\u30ea\u3068\u691c\u8a3a\u3067\u3001\u6a5f\u80fd\u3092\u9577\u304f\u7dad\u6301\u3059\u308b\u3053\u3068\u3092\u76ee\u6307\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30c1\u30fc\u30e0\u533b\u7642:<\/strong> \u591a\u304f\u306e\u5c02\u9580\u5bb6\u304c\u95a2\u308f\u308a\u307e\u3059\u3002\u5206\u304b\u3089\u306a\u3044\u3053\u3068\u306f\u9060\u616e\u306a\u304f\u533b\u5e2b\u3084\u30b9\u30bf\u30c3\u30d5\u306b\u8cea\u554f\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/li>\n<\/ol>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"8_%E8%A8%BA%E6%96%AD%E3%82%92%E5%8F%97%E3%81%91%E3%81%9F%E3%81%94%E5%AE%B6%E6%97%8F%E3%81%B8\"><\/span><strong>8. \u8a3a\u65ad\u3092\u53d7\u3051\u305f\u3054\u5bb6\u65cf\u3078<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u300c\u67d3\u8272\u4f53Xp21\u6b20\u5931\u75c7\u5019\u7fa4\u300d\u3068\u3044\u3046\u8a3a\u65ad\u3092\u805e\u304d\u3001\u4eca\u306f\u6df1\u3044\u60b2\u3057\u307f\u3084\u4e0d\u5b89\u3001\u3042\u308b\u3044\u306f\u300c\u306a\u305c\u3046\u3061\u306e\u5b50\u304c\u300d\u3068\u3044\u3046\u3084\u308a\u5834\u306e\u306a\u3044\u611f\u60c5\u306e\u4e2d\u306b\u3044\u3089\u3063\u3057\u3083\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002\u30a4\u30f3\u30bf\u30fc\u30cd\u30c3\u30c8\u3067\u691c\u7d22\u3057\u3066\u3001\u53b3\u3057\u3044\u60c5\u5831\u3070\u304b\u308a\u304c\u76ee\u306b\u3064\u304d\u3001\u5fc3\u304c\u62bc\u3057\u3064\u3076\u3055\u308c\u305d\u3046\u306b\u306a\u3063\u3066\u3044\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u3069\u3046\u304b\u3001\u3054\u81ea\u8eab\u3092\u8cac\u3081\u306a\u3044\u3067\u304f\u3060\u3055\u3044\u3002\u3053\u306e\u75c5\u6c17\u306f\u3001\u3054\u4e21\u89aa\u306e\u80b2\u3066\u65b9\u3084\u598a\u5a20\u4e2d\u306e\u904e\u3054\u3057\u65b9\u304c\u539f\u56e0\u3067\u8d77\u3053\u308b\u3082\u306e\u3067\u306f\u6c7a\u3057\u3066\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306f\u78ba\u304b\u306b\u751f\u6daf\u306b\u308f\u305f\u308b\u7ba1\u7406\u304c\u5fc5\u8981\u3067\u3059\u304c\u3001\u9069\u5207\u306a\u6cbb\u7642\u3092\u53d7\u3051\u308b\u3053\u3068\u3067\u3001\u304a\u5b50\u69d8\u306f\u7b11\u9854\u3092\u898b\u305b\u3001\u6210\u9577\u3057\u3001\u5bb6\u65cf\u3068\u304b\u3051\u304c\u3048\u306e\u306a\u3044\u6642\u9593\u3092\u904e\u3054\u3059\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u533b\u7642\u306f\u65e5\u3005\u9032\u6b69\u3057\u3066\u304a\u308a\u3001\u65b0\u3057\u3044\u6cbb\u7642\u6cd5\u306e\u958b\u767a\u3082\u9032\u3093\u3067\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306f\u5e0c\u5c11\u75be\u60a3\u3067\u3042\u308b\u305f\u3081\u3001\u8eab\u8fd1\u306b\u540c\u3058\u75c5\u6c17\u306e\u65b9\u304c\u304a\u3089\u305a\u3001\u5b64\u7acb\u611f\u3092\u611f\u3058\u3084\u3059\u3044\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002\u3057\u304b\u3057\u3001\u540c\u3058\u60a9\u307f\u3092\u6301\u3064\u5bb6\u65cf\u306e\u4f1a\u3084\u3001\u96e3\u75c5\u76f8\u8ac7\u652f\u63f4\u30bb\u30f3\u30bf\u30fc\u306a\u3069\u306e\u30b5\u30dd\u30fc\u30c8\u30ea\u30bd\u30fc\u30b9\u304c\u5b58\u5728\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5c02\u9580\u533b\u3068\u306e\u9023\u643a:<\/strong> \u4e3b\u6cbb\u533b\u306f\u3042\u306a\u305f\u306e\u30d1\u30fc\u30c8\u30ca\u30fc\u3067\u3059\u3002\u4e9b\u7d30\u306a\u3053\u3068\u3067\u3082\u76f8\u8ac7\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/li>\n\n\n\n<li><strong>\u5bb6\u65cf\u4f1a\u30fb\u60a3\u8005\u4f1a:<\/strong> \u30c7\u30e5\u30b7\u30a7\u30f3\u30cc\u578b\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u3084\u5148\u5929\u6027\u526f\u814e\u4f4e\u5f62\u6210\u75c7\u306e\u60a3\u8005\u56e3\u4f53\u306b\u306f\u3001Xp21\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u3054\u5bb6\u65cf\u304c\u53c2\u52a0\u3055\u308c\u3066\u3044\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u5148\u8f29\u5bb6\u65cf\u306e\u7d4c\u9a13\u8ac7\u306f\u3001\u5927\u304d\u306a\u652f\u3048\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u516c\u7684\u306a\u652f\u63f4:<\/strong> \u5c0f\u5150\u6162\u6027\u7279\u5b9a\u75be\u75c5\u3084\u6307\u5b9a\u96e3\u75c5\u306e\u5236\u5ea6\u3001\u969c\u5bb3\u8005\u624b\u5e33\u306a\u3069\u3092\u6d3b\u7528\u3059\u308b\u3053\u3068\u3067\u3001\u533b\u7642\u8cbb\u306e\u52a9\u6210\u3084\u798f\u7949\u30b5\u30fc\u30d3\u30b9\u3092\u53d7\u3051\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u75c5\u9662\u306e\u30bd\u30fc\u30b7\u30e3\u30eb\u30ef\u30fc\u30ab\u30fc\u306b\u76f8\u8ac7\u3057\u3066\u307f\u307e\u3057\u3087\u3046\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u4eca\u65e5\u3001\u3059\u3079\u3066\u306e\u3053\u3068\u3092\u7406\u89e3\u3057\u3066\u6c7a\u3081\u308b\u5fc5\u8981\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u4e00\u65e5\u4e00\u65e5\u3001\u304a\u5b50\u69d8\u306e\u69d8\u5b50\u3092\u898b\u306a\u304c\u3089\u3001\u533b\u7642\u30c1\u30fc\u30e0\u3068\u4e00\u7dd2\u306b\u3086\u3063\u304f\u308a\u3068\u6b69\u3093\u3067\u3044\u304d\u307e\u3057\u3087\u3046\u3002\u3042\u306a\u305f\u3068\u304a\u5b50\u69d8\u306e\u672a\u6765\u304c\u3001\u7a4f\u3084\u304b\u3067\u5e0c\u671b\u306b\u6e80\u3061\u305f\u3082\u306e\u306b\u306a\u308b\u3088\u3046\u3001\u5fc3\u304b\u3089\u5fdc\u63f4\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n","protected":false},"excerpt":{"rendered":"\u306f\u3058\u3081\u306b \u304a\u5b50\u69d8\u3084\u3054\u5bb6\u65cf\u304c\u300c\u67d3\u8272\u4f53Xp2&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-xp21-deletion-syndrome\/\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":88,"featured_media":119789,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[1392],"tags":[],"class_list":["post-121687","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-1392"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/121687","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/users\/88"}],"replies":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/comments?post=121687"}],"version-history":[{"count":3,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/121687\/revisions"}],"predecessor-version":[{"id":125324,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/121687\/revisions\/125324"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/119789"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=121687"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=121687"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=121687"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}