{"id":116095,"date":"2025-09-24T17:34:44","date_gmt":"2025-09-24T08:34:44","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=116095"},"modified":"2025-09-24T17:34:46","modified_gmt":"2025-09-24T08:34:46","slug":"nipt-22q11-deletion","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-22q11-deletion\/","title":{"rendered":"22q11.2\u6b20\u5931\u75c7\u5019\u7fa4\uff08\u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa4\uff09\u306eNIPT\u306b\u3088\u308b\u691c\u51fa\u53ef\u80fd\u6027"},"content":{"rendered":"\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_84 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\/nipt-22q11-deletion\/#1_%E3%81%AF%E3%81%98%E3%82%81%E3%81%AB\" >1. \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\/nipt-22q11-deletion\/#2_22q112%E6%AC%A0%E5%A4%B1%E7%97%87%E5%80%99%E7%BE%A4%EF%BC%88%E3%83%87%E3%82%A3%E3%82%B8%E3%83%A7%E3%83%BC%E3%82%B8%E7%97%87%E5%80%99%E7%BE%A4%EF%BC%89%E3%81%A8%E3%81%AF\" >2. 22q11.2\u6b20\u5931\u75c7\u5019\u7fa4\uff08\u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa4\uff09\u3068\u306f<\/a><\/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\/nipt-22q11-deletion\/#3_NIPT%EF%BC%88%E9%9D%9E%E4%BE%B5%E8%A5%B2%E7%9A%84%E5%87%BA%E7%94%9F%E5%89%8D%E9%81%BA%E4%BC%9D%E5%AD%A6%E7%9A%84%E6%A4%9C%E6%9F%BB%EF%BC%89%E3%81%AE%E6%A6%82%E8%A6%81\" >3. NIPT\uff08\u975e\u4fb5\u8972\u7684\u51fa\u751f\u524d\u907a\u4f1d\u5b66\u7684\u691c\u67fb\uff09\u306e\u6982\u8981<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-22q11-deletion\/#4_%E3%83%87%E3%82%A3%E3%82%B8%E3%83%A7%E3%83%BC%E3%82%B8%E7%97%87%E5%80%99%E7%BE%A4%E3%81%AENIPT%E6%A4%9C%E5%87%BA%E5%8F%AF%E8%83%BD%E6%80%A7\" >4. \u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa4\u306eNIPT\u691c\u51fa\u53ef\u80fd\u6027<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-22q11-deletion\/#41_%E6%8A%80%E8%A1%93%E7%9A%84%E8%83%8C%E6%99%AF\" >4.1 \u6280\u8853\u7684\u80cc\u666f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-22q11-deletion\/#42_%E6%A4%9C%E5%87%BA%E7%B2%BE%E5%BA%A6\" >4.2 \u691c\u51fa\u7cbe\u5ea6<\/a><\/li><\/ul><\/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\/nipt-22q11-deletion\/#5_NIPT%E3%81%AE%E9%99%90%E7%95%8C%E3%81%A8%E6%B3%A8%E6%84%8F%E7%82%B9\" >5. NIPT\u306e\u9650\u754c\u3068\u6ce8\u610f\u70b9<\/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\/nipt-22q11-deletion\/#6_%E8%87%A8%E5%BA%8A%E7%9A%84%E6%84%8F%E7%BE%A9\" >6. \u81e8\u5e8a\u7684\u610f\u7fa9<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-22q11-deletion\/#61_%E5%A6%8A%E5%A9%A6%E3%83%BB%E5%AE%B6%E6%97%8F%E3%81%B8%E3%81%AE%E5%BD%B1%E9%9F%BF\" >6.1 \u598a\u5a66\u30fb\u5bb6\u65cf\u3078\u306e\u5f71\u97ff<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-22q11-deletion\/#62_%E5%8C%BB%E7%99%82%E8%80%85%E3%81%AE%E6%B4%BB%E7%94%A8\" >6.2 \u533b\u7642\u8005\u306e\u6d3b\u7528<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-22q11-deletion\/#7_%E6%B5%B7%E5%A4%96%E3%81%AE%E3%82%AC%E3%82%A4%E3%83%89%E3%83%A9%E3%82%A4%E3%83%B3\" >7. \u6d77\u5916\u306e\u30ac\u30a4\u30c9\u30e9\u30a4\u30f3<\/a><\/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\/nipt-22q11-deletion\/#8_%E5%A6%8A%E5%A9%A6%E3%81%8C%E7%9F%A5%E3%81%A3%E3%81%A6%E3%81%8A%E3%81%8F%E3%81%B9%E3%81%8D%E3%81%93%E3%81%A8\" >8. \u598a\u5a66\u304c\u77e5\u3063\u3066\u304a\u304f\u3079\u304d\u3053\u3068<\/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\/nipt-22q11-deletion\/#9_%E3%81%93%E3%81%93%E3%81%BE%E3%81%A7%E3%81%AE%E3%81%BE%E3%81%A8%E3%82%81\" >9. \u3053\u3053\u307e\u3067\u306e\u307e\u3068\u3081<\/a><\/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\/nipt-22q11-deletion\/#10_NIPT%E3%81%AB%E3%82%88%E3%82%8B%E3%83%87%E3%82%A3%E3%82%B8%E3%83%A7%E3%83%BC%E3%82%B8%E7%97%87%E5%80%99%E7%BE%A4%E3%82%B9%E3%82%AF%E3%83%AA%E3%83%BC%E3%83%8B%E3%83%B3%E3%82%B0%E3%81%AE%E6%B5%81%E3%82%8C\" >10. NIPT\u306b\u3088\u308b\u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa4\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u306e\u6d41\u308c<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-15\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-22q11-deletion\/#11_%E5%8C%BB%E7%99%82%E6%A9%9F%E9%96%A2%E9%81%B8%E3%81%B3%E3%81%AE%E3%83%9D%E3%82%A4%E3%83%B3%E3%83%88\" >11. \u533b\u7642\u6a5f\u95a2\u9078\u3073\u306e\u30dd\u30a4\u30f3\u30c8<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-22q11-deletion\/#12_%E9%81%BA%E4%BC%9D%E3%82%AB%E3%82%A6%E3%83%B3%E3%82%BB%E3%83%AA%E3%83%B3%E3%82%B0%E3%81%AE%E9%87%8D%E8%A6%81%E6%80%A7\" >12. \u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u91cd\u8981\u6027<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-22q11-deletion\/#13_%E4%BB%8A%E5%BE%8C%E3%81%AE%E5%B1%95%E6%9C%9B\" >13. \u4eca\u5f8c\u306e\u5c55\u671b<\/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\/nipt-22q11-deletion\/#14_%E3%81%BE%E3%81%A8%E3%82%81\" >14. \u307e\u3068\u3081<\/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\/nipt-22q11-deletion\/#%E5%8F%82%E8%80%83%E6%96%87%E7%8C%AE\" >\u53c2\u8003\u6587\u732e<\/a><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E3%81%AF%E3%81%98%E3%82%81%E3%81%AB\"><\/span><strong>1. \u306f\u3058\u3081\u306b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>22q11.2\u6b20\u5931\u75c7\u5019\u7fa4\uff08<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/microdeletion-syndrome\/\">\u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa4<\/a>\uff09\u306f\u3001\u30d2\u30c8\u306e\u7b2c22\u67d3\u8272\u4f53\u9577\u8155\u306b\u3042\u308b\u7279\u5b9a\u306e\u9818\u57df\u304c\u6b20\u5931\u3059\u308b\u3053\u3068\u3067\u767a\u75c7\u3059\u308b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosomal-abnormality\/\">\u67d3\u8272\u4f53\u7570\u5e38<\/a>\u3067\u3059\u3002\u5148\u5929\u6027\u5fc3\u75be\u60a3\u3001\u514d\u75ab\u4e0d\u5168\u3001\u53e3\u84cb\u88c2\u3001\u767a\u9054\u9045\u6ede\u3001\u7cbe\u795e\u795e\u7d4c\u75c7\u72b6\u306a\u3069\u591a\u5f69\u306a\u81e8\u5e8a\u75c7\u72b6\u3092\u5448\u3059\u308b\u3053\u3068\u304c\u7279\u5fb4\u3067\u3042\u308a\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u3084\u65e9\u671f\u767a\u898b\u306e\u91cd\u8981\u6027\u304c\u9ad8\u3044\u75be\u60a3\u3068\u3057\u3066\u77e5\u3089\u308c\u3066\u3044\u307e\u3059[^1]\u3002<\/p>\n\n\n\n<p>\u5f93\u6765\u3001\u8a3a\u65ad\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chorionic-villus-test\/\">\u7d68\u6bdb\u691c\u67fb<\/a>\u3092\u901a\u3058\u305f\u78ba\u5b9a\u8a3a\u65ad\u306b\u983c\u308b\u3053\u3068\u304c\u591a\u304f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/abortion\/\">\u6d41\u7523<\/a>\u30ea\u30b9\u30af\u3084\u4fb5\u8972\u6027\u306e\u554f\u984c\u304c\u3042\u308a\u307e\u3057\u305f\u3002\u3057\u304b\u3057\u8fd1\u5e74\u3001\u975e\u4fb5\u8972\u7684\u51fa\u751f\u524d\u907a\u4f1d\u5b66\u7684\u691c\u67fb\uff08<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>: Non-Invasive Prenatal Testing\uff09\u304c\u5c0e\u5165\u3055\u308c\u3001\u6bcd\u4f53\u8840\u4e2d\u306e\u80ce\u5150\u7531\u6765\u7d30\u80de\u30d5\u30ea\u30fcDNA\u3092\u7528\u3044\u305f\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u304c\u53ef\u80fd\u3068\u306a\u308a\u307e\u3057\u305f\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/microdeletion-syndrome\/\">\u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa4<\/a>\u306e\u3088\u3046\u306a<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\uff08microdeletion\uff09\u306b\u5bfe\u3057\u3066\u3082NIPT\u3067\u691c\u51fa\u3067\u304d\u308b\u53ef\u80fd\u6027\u304c\u6ce8\u76ee\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u672c\u7a3f\u3067\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/microdeletion-syndrome\/\">\u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa4<\/a>\u306eNIPT\u306b\u3088\u308b\u691c\u51fa\u306e\u53ef\u80fd\u6027\u3001\u7cbe\u5ea6\u3001\u9650\u754c\u3001\u81e8\u5e8a\u7684\u610f\u7fa9\u306b\u3064\u3044\u3066\u3001\u6700\u65b0\u306e\u7814\u7a76\u30a8\u30d3\u30c7\u30f3\u30b9\u306b\u57fa\u3065\u304d\u89e3\u8aac\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p><\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_22q112%E6%AC%A0%E5%A4%B1%E7%97%87%E5%80%99%E7%BE%A4%EF%BC%88%E3%83%87%E3%82%A3%E3%82%B8%E3%83%A7%E3%83%BC%E3%82%B8%E7%97%87%E5%80%99%E7%BE%A4%EF%BC%89%E3%81%A8%E3%81%AF\"><\/span><strong>2. 22q11.2\u6b20\u5931\u75c7\u5019\u7fa4\uff08\u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa4\uff09\u3068\u306f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/microdeletion-syndrome\/\">\u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa4<\/a>\u306f\u300122q11.2\u9818\u57df\u306b\u304a\u3051\u308b<strong>\u7d041.5\u301c3 Mb\u306e\u6b20\u5931<\/strong>\u306b\u3088\u308a\u767a\u75c7\u3059\u308b\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059[^2]\u3002\u81e8\u5e8a\u7684\u306b\u306f\u4ee5\u4e0b\u306e\u7279\u5fb4\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5148\u5929\u6027\u5fc3\u75be\u60a3<\/strong>\uff1a\u7279\u306b\u30d5\u30a1\u30ed\u30fc\u56db\u5fb4\u75c7\u3084\u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d\u306a\u3069\u304c\u591a\u3044\u3002<br><\/li>\n\n\n\n<li><strong>\u53e3\u84cb\u88c2<\/strong>\uff1a\u53e3\u84cb\u88c2\u3001\u53e3\u84cb\u6241\u6843\u306e\u7570\u5e38\u3002<br><\/li>\n\n\n\n<li><strong>\u514d\u75ab\u7570\u5e38<\/strong>\uff1a\u80f8\u817a\u4f4e\u5f62\u6210\u306b\u4f34\u3046T\u7d30\u80de\u6e1b\u5c11\u3001\u611f\u67d3\u75c7\u30ea\u30b9\u30af\u5897\u52a0\u3002<br><\/li>\n\n\n\n<li><strong>\u767a\u9054\u9045\u6ede\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a><\/strong>\uff1a\u8a00\u8a9e\u767a\u9054\u306e\u9045\u308c\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/learning-disabilities-genetics-support\/\">\u5b66\u7fd2\u969c\u5bb3<\/a>\u3002<br><\/li>\n\n\n\n<li><strong>\u7cbe\u795e\u795e\u7d4c\u75c7\u72b6<\/strong>\uff1a\u6ce8\u610f\u6b20\u5982\u30fb\u591a\u52d5\u75c7\uff08<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/adhd-genetics-symptoms-support\/\">ADHD<\/a>\uff09\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u75c7<\/a>\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u3001\u7d71\u5408\u5931\u8abf\u75c7\u306e\u30ea\u30b9\u30af\u5897\u52a0\u3002<br><\/li>\n<\/ul>\n\n\n\n<p>\u767a\u75c7\u983b\u5ea6\u306f\u7d044,000\u301c6,000\u51fa\u751f\u306b1\u4f8b\u3068\u3055\u308c\u3001\u81e8\u5e8a\u7684\u306b\u306f\u3057\u3070\u3057\u3070\u8a3a\u65ad\u304c\u9045\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059[^3]\u3002\u305d\u306e\u305f\u3081<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u306e\u5c0e\u5165\u306f\u3001\u75be\u60a3\u7ba1\u7406\u3084\u5bb6\u65cf\u3078\u306e\u60c5\u5831\u63d0\u4f9b\u306b\u304a\u3044\u3066\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_NIPT%EF%BC%88%E9%9D%9E%E4%BE%B5%E8%A5%B2%E7%9A%84%E5%87%BA%E7%94%9F%E5%89%8D%E9%81%BA%E4%BC%9D%E5%AD%A6%E7%9A%84%E6%A4%9C%E6%9F%BB%EF%BC%89%E3%81%AE%E6%A6%82%E8%A6%81\"><\/span><strong>3. NIPT\uff08\u975e\u4fb5\u8972\u7684\u51fa\u751f\u524d\u907a\u4f1d\u5b66\u7684\u691c\u67fb\uff09\u306e\u6982\u8981<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>NIPT\u306f\u3001\u6bcd\u4f53\u8840\u4e2d\u306b\u5b58\u5728\u3059\u308b\u80ce\u5150\u7531\u6765\u306e\u7d30\u80de\u30d5\u30ea\u30fcDNA\uff08cffDNA\uff09\u3092\u89e3\u6790\u3057\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosomal-abnormality\/\">\u67d3\u8272\u4f53\u7570\u5e38<\/a>\u306e\u30ea\u30b9\u30af\u3092\u8a55\u4fa1\u3059\u308b\u691c\u67fb\u3067\u3059\u3002\u4e3b\u306b\u4ee5\u4e0b\u306e\u7279\u5fb4\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u975e\u4fb5\u8972\u7684<\/strong>\uff1a\u6bcd\u4f53\u63a1\u8840\u306e\u307f\u3067\u691c\u67fb\u53ef\u80fd\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/abortion\/\">\u6d41\u7523<\/a>\u30ea\u30b9\u30af\u306f\u307b\u307c\u30bc\u30ed\u3002<br><\/li>\n\n\n\n<li><strong>\u9ad8\u7cbe\u5ea6\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0<\/strong>\uff1a21\u30c8\u30ea\u30bd\u30df\u30fc\uff08<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/testing\/\">\u30c0\u30a6\u30f3\u75c7<\/a>\uff09\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/edwards-syndrome\/\">18\u30c8\u30ea\u30bd\u30df\u30fc<\/a>\uff08\u30a8\u30c9\u30ef\u30fc\u30ba\u75c7\u5019\u7fa4\uff09\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/patau-syndrome\/\">13\u30c8\u30ea\u30bd\u30df\u30fc<\/a>\uff08\u30d1\u30c8\u30a6\u75c7\u5019\u7fa4\uff09\u306b\u5bfe\u3059\u308b\u611f\u5ea6\u306f\u7d0499%\u3002<br><\/li>\n\n\n\n<li><strong>\u598a\u5a2010\u9031\u4ee5\u964d\u306b\u5b9f\u65bd\u53ef\u80fd<\/strong>\uff1a\u65e9\u671f\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u304c\u53ef\u80fd\u3002<br><\/li>\n<\/ul>\n\n\n\n<p>\u5f93\u6765\u306f21\u300118\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/patau-syndrome\/\">13\u30c8\u30ea\u30bd\u30df\u30fc<\/a>\u304c\u4e3b\u5bfe\u8c61\u3067\u3057\u305f\u304c\u3001\u8fd1\u5e74\u3067\u306f<strong><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u3084\u5fae\u5c0f\u91cd\u8907\u306e\u691c\u51fa<\/strong>\u306b\u3082\u5fdc\u7528\u304c\u5e83\u304c\u3063\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u306b\u3088\u308a<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/microdeletion-syndrome\/\">\u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa4<\/a>\u306e\u51fa\u751f\u524d\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u304c\u53ef\u80fd\u3068\u306a\u308a\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<p><\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E3%83%87%E3%82%A3%E3%82%B8%E3%83%A7%E3%83%BC%E3%82%B8%E7%97%87%E5%80%99%E7%BE%A4%E3%81%AENIPT%E6%A4%9C%E5%87%BA%E5%8F%AF%E8%83%BD%E6%80%A7\"><\/span><strong>4. \u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa4\u306eNIPT\u691c\u51fa\u53ef\u80fd\u6027<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"41_%E6%8A%80%E8%A1%93%E7%9A%84%E8%83%8C%E6%99%AF\"><\/span><strong>4.1 \u6280\u8853\u7684\u80cc\u666f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/microdeletion-syndrome\/\">\u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa4<\/a>\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u3067\u3042\u308b\u305f\u3081\u3001\u5f93\u6765\u306e\u6a19\u6e96NIPT\u3067\u306f\u691c\u51fa\u304c\u96e3\u3057\u3044\u3068\u3055\u308c\u3066\u3044\u307e\u3057\u305f\u3002\u3057\u304b\u3057\u3001<strong>\u9ad8\u7cbe\u5ea6\u30b7\u30fc\u30af\u30a8\u30f3\u30b7\u30f3\u30b0\u6280\u8853\uff08massively parallel sequencing, MPS\uff09\u3084\u30bf\u30fc\u30b2\u30c3\u30c8\u30ad\u30e3\u30d7\u30c1\u30e3\u578b\u89e3\u6790<\/strong>\u306e\u5c0e\u5165\u306b\u3088\u308a\u300122q11.2\u9818\u57df\u306e\u30b3\u30d4\u30fc\u6570\u5909\u5316\u3092\u6bcd\u4f53\u8840\u304b\u3089\u63a8\u5b9a\u53ef\u80fd\u306b\u306a\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30b7\u30fc\u30af\u30a8\u30f3\u30b9\u6df1\u5ea6\u306e\u5411\u4e0a<\/strong>\uff1a\u6a19\u6e96NIPT\u3088\u308a\u3082\u591a\u304f\u306e\u30ea\u30fc\u30c9\u3092\u89e3\u6790\u3059\u308b\u3053\u3068\u3067\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u9818\u57df\u306e\u8b58\u5225\u7cbe\u5ea6\u3092\u5411\u4e0a\u3002<br><\/li>\n\n\n\n<li><strong>\u30d0\u30a4\u30aa\u30a4\u30f3\u30d5\u30a9\u30de\u30c6\u30a3\u30af\u30b9\u89e3\u6790<\/strong>\uff1a\u6b20\u5931\u9818\u57df\u306b\u304a\u3051\u308b\u8aad\u307f\u53d6\u308a\u6570\u306e\u4f4e\u4e0b\u3092\u7d71\u8a08\u7684\u306b\u8a55\u4fa1\u3002<br><\/li>\n\n\n\n<li><strong>\u30bf\u30fc\u30b2\u30c3\u30c8\u578bNIPT<\/strong>\uff1a22q11.2\u6b20\u5931\u306b\u7279\u5316\u3057\u305f\u8a2d\u8a08\u306b\u3088\u308a\u3001\u691c\u51fa\u7cbe\u5ea6\u304c\u3055\u3089\u306b\u5411\u4e0a\u3002<br><\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"42_%E6%A4%9C%E5%87%BA%E7%B2%BE%E5%BA%A6\"><\/span><strong>4.2 \u691c\u51fa\u7cbe\u5ea6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6700\u8fd1\u306e\u30e1\u30bf\u89e3\u6790\u306b\u3088\u308b\u3068\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/microdeletion-syndrome\/\">\u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa4<\/a>\u306b\u5bfe\u3059\u308bNIPT\u306e**\u611f\u5ea6\u306f\u7d0475\u301c95%\u3001\u7279\u7570\u5ea6\u306f\u7d0499%**\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059[^5]\u3002\u967d\u6027\u7684\u4e2d\u7387\uff08PPV\uff09\u306f\u6bcd\u4f53\u5e74\u9f62\u3084\u598a\u5a20\u9031\u6570\u3001\u691c\u67fb\u5bfe\u8c61\u96c6\u56e3\u306b\u3088\u3063\u3066\u5909\u52d5\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u9ad8\u30ea\u30b9\u30af\u598a\u5a66\uff08\u5fc3\u75be\u60a3\u80ce\u5150\u306a\u3069\uff09\u3067\u306fPPV\u304c\u9ad8\u304f\u306a\u308b\u50be\u5411\u3002<br><\/li>\n\n\n\n<li>\u4f4e\u30ea\u30b9\u30af\u4e00\u822c\u96c6\u56e3\u3067\u306fPPV\u304c\u3084\u3084\u4f4e\u4e0b\u3059\u308b\u304c\u3001\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3068\u3057\u3066\u6709\u52b9\u3002<br><\/li>\n<\/ul>\n\n\n\n<p><\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"5_NIPT%E3%81%AE%E9%99%90%E7%95%8C%E3%81%A8%E6%B3%A8%E6%84%8F%E7%82%B9\"><\/span><strong>5. NIPT\u306e\u9650\u754c\u3068\u6ce8\u610f\u70b9<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>NIPT\u306b\u3088\u308b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/microdeletion-syndrome\/\">\u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa4<\/a>\u306e\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u306b\u306f\u3001\u3044\u304f\u3064\u304b\u306e\u9650\u754c\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>\u78ba\u5b9a\u8a3a\u65ad\u3067\u306f\u306a\u3044<\/strong><strong><br><\/strong> NIPT\u306f\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u691c\u67fb\u3067\u3042\u308a\u3001\u967d\u6027\u7d50\u679c\u304c\u51fa\u305f\u5834\u5408\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chorionic-villus-test\/\">\u7d68\u6bdb\u691c\u67fb<\/a>\u3067\u78ba\u5b9a\u8a3a\u65ad\u304c\u5fc5\u8981\u3067\u3059\u3002<br><\/li>\n\n\n\n<li><strong>\u507d\u967d\u6027\u30fb\u507d\u9670\u6027\u306e\u53ef\u80fd\u6027<\/strong><strong><br><\/strong> \u80ce\u5150DNA\u306e\u6bcd\u4f53\u8840\u4e2d\u6bd4\u7387\uff08fetal fraction\uff09\u304c\u4f4e\u3044\u5834\u5408\u3001\u507d\u9670\u6027\u306e\u30ea\u30b9\u30af\u304c\u5897\u52a0\u3057\u307e\u3059\u3002\u53cc\u80ce\u598a\u5a20\u3084\u80a5\u6e80\u598a\u5a66\u3067\u306f\u6ce8\u610f\u304c\u5fc5\u8981\u3067\u3059\u3002<br><\/li>\n\n\n\n<li><strong>\u5168\u3066\u306e22q11.2\u6b20\u5931\u3092\u691c\u51fa\u3067\u304d\u308b\u308f\u3051\u3067\u306f\u306a\u3044<\/strong><strong><br><\/strong> \u6b20\u5931\u306e\u5927\u304d\u3055\u3084\u4f4d\u7f6e\u306b\u3088\u3063\u3066\u306f\u691c\u51fa\u3055\u308c\u306a\u3044\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002\u6a19\u6e96\u7684\u306a\u30bf\u30fc\u30b2\u30c3\u30c8\u7bc4\u56f2\u5916\u306e\u6b20\u5931\u306f\u898b\u9003\u3055\u308c\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<br><\/li>\n\n\n\n<li><strong>\u8ffd\u52a0\u7684\u306a<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosomal-abnormality\/\">\u67d3\u8272\u4f53\u7570\u5e38<\/a>\u306f\u691c\u51fa\u4e0d\u53ef<\/strong><strong><br><\/strong> 21\u30c8\u30ea\u30bd\u30df\u30fc\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/edwards-syndrome\/\">18\u30c8\u30ea\u30bd\u30df\u30fc<\/a>\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/patau-syndrome\/\">13\u30c8\u30ea\u30bd\u30df\u30fc<\/a>\u4ee5\u5916\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u306f\u3001\u5bfe\u8c61\u5916\u3067\u3042\u308c\u3070\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3067\u304d\u307e\u305b\u3093\u3002<br><\/li>\n<\/ol>\n\n\n\n<p><\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"6_%E8%87%A8%E5%BA%8A%E7%9A%84%E6%84%8F%E7%BE%A9\"><\/span><strong>6. \u81e8\u5e8a\u7684\u610f\u7fa9<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"61_%E5%A6%8A%E5%A9%A6%E3%83%BB%E5%AE%B6%E6%97%8F%E3%81%B8%E3%81%AE%E5%BD%B1%E9%9F%BF\"><\/span><strong>6.1 \u598a\u5a66\u30fb\u5bb6\u65cf\u3078\u306e\u5f71\u97ff<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u65e9\u671f\u306b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/microdeletion-syndrome\/\">\u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa4<\/a>\u306e\u30ea\u30b9\u30af\u3092\u628a\u63e1\u3067\u304d\u308b\u3053\u3068\u3067\u3001\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u610f\u601d\u6c7a\u5b9a\u304c\u53ef\u80fd\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u598a\u5a20\u7d99\u7d9a\u30fb\u4e2d\u65ad\u306b\u95a2\u3059\u308b\u610f\u601d\u6c7a\u5b9a<br><\/li>\n\n\n\n<li>\u51fa\u751f\u5f8c\u306e\u65e9\u671f\u533b\u7642\u30fb\u7642\u80b2\u6e96\u5099<br><\/li>\n\n\n\n<li>\u5fc3\u75be\u60a3\u3084\u514d\u75ab\u7570\u5e38\u3078\u306e\u65e9\u671f\u4ecb\u5165\u8a08\u753b<br><\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"62_%E5%8C%BB%E7%99%82%E8%80%85%E3%81%AE%E6%B4%BB%E7%94%A8\"><\/span><strong>6.2 \u533b\u7642\u8005\u306e\u6d3b\u7528<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u9ad8\u30ea\u30b9\u30af\u598a\u5a66\u306e\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u5bfe\u8c61\u306e\u7d5e\u308a\u8fbc\u307f<br><\/li>\n\n\n\n<li>\u975e\u4fb5\u8972\u7684\u624b\u6cd5\u306b\u3088\u308b\u5fc3\u7406\u7684\u8ca0\u62c5\u306e\u8efd\u6e1b<br><\/li>\n\n\n\n<li><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u3092\u6700\u5c0f\u9650\u306b\u3059\u308b\u3053\u3068\u306b\u3088\u308b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/abortion\/\">\u6d41\u7523<\/a>\u30ea\u30b9\u30af\u8efd\u6e1b<br><\/li>\n<\/ul>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"7_%E6%B5%B7%E5%A4%96%E3%81%AE%E3%82%AC%E3%82%A4%E3%83%89%E3%83%A9%E3%82%A4%E3%83%B3\"><\/span><strong>7. \u6d77\u5916\u306e\u30ac\u30a4\u30c9\u30e9\u30a4\u30f3<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7c73\u56fd\uff08ACOG\uff09<\/strong><strong><br><\/strong> \u9ad8\u30ea\u30b9\u30af\u598a\u5a66\u306b\u5bfe\u3057\u306622q11.2\u6b20\u5931\u75c7\u5019\u7fa4NIPT\u306e\u63d0\u4f9b\u3092\u63a8\u5968\u3002\u967d\u6027\u7d50\u679c\u306f\u78ba\u5b9a\u8a3a\u65ad\u304c\u5fc5\u9808[^6]\u3002<br><\/li>\n\n\n\n<li><strong>\u6b27\u5dde<\/strong><strong><br><\/strong> \u30a4\u30ae\u30ea\u30b9\u3067\u306f\u3001\u516c\u7684\u4fdd\u967a\u306e\u4e0b\u3067<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>NIPT\u3092\u9ad8\u30ea\u30b9\u30af\u598a\u5a66\u306b\u63d0\u4f9b\u3002\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u5f8c\u3001\u78ba\u5b9a\u8a3a\u65ad\u306b\u9032\u3080\u6d41\u308c\u304c\u6a19\u6e96\u3002<br><\/li>\n\n\n\n<li><strong>\u65e5\u672c<\/strong><strong><br><\/strong> \u65e5\u672c\u3067\u306f22q11.2\u6b20\u5931\u75c7\u5019\u7fa4NIPT\u306f\u81ea\u7531\u8a3a\u7642\u6271\u3044\u3067\u3042\u308a\u300135\u6b73\u4ee5\u4e0a\u3084\u9ad8\u30ea\u30b9\u30af\u598a\u5a66\u304c\u5bfe\u8c61\u3002\u691c\u67fb\u7cbe\u5ea6\u3001\u9650\u754c\u3001\u967d\u6027\u30fb\u9670\u6027\u306e\u610f\u5473\u306b\u3064\u3044\u3066\u5341\u5206\u306a\u8aac\u660e\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002<br><\/li>\n<\/ul>\n\n\n\n<p><\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"8_%E5%A6%8A%E5%A9%A6%E3%81%8C%E7%9F%A5%E3%81%A3%E3%81%A6%E3%81%8A%E3%81%8F%E3%81%B9%E3%81%8D%E3%81%93%E3%81%A8\"><\/span><strong>8. \u598a\u5a66\u304c\u77e5\u3063\u3066\u304a\u304f\u3079\u304d\u3053\u3068<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ol class=\"wp-block-list\">\n<li>NIPT\u306f\u4efb\u610f\u306e\u691c\u67fb\u3067\u3042\u308b\u3053\u3068<br><\/li>\n\n\n\n<li>\u967d\u6027\u5224\u5b9a\u306f\u78ba\u5b9a\u8a3a\u65ad\u3067\u306f\u306a\u3044\u3053\u3068<br><\/li>\n\n\n\n<li>\u7d50\u679c\u306b\u57fa\u3065\u304f\u610f\u601d\u6c7a\u5b9a\u306b\u306f\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u304c\u91cd\u8981<br><\/li>\n\n\n\n<li>\u4fe1\u983c\u3067\u304d\u308b\u533b\u7642\u6a5f\u95a2\u3067\u691c\u67fb\u3092\u53d7\u3051\u308b\u3053\u3068<br><\/li>\n\n\n\n<li>\u598a\u5a20\u9031\u6570\u3001\u6bcd\u4f53\u5e74\u9f62\u3001\u80ce\u5150\u306e\u5065\u5eb7\u72b6\u614b\u3092\u8003\u616e\u3059\u308b\u3053\u3068<br><\/li>\n<\/ol>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"428\" src=\"\/nipt\/wp-content\/uploads\/2025\/09\/23042281_s.webp\" alt=\"\u598a\u5a66\" class=\"wp-image-116103\"\/><\/figure><\/div>\n\n\n<p><\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"9_%E3%81%93%E3%81%93%E3%81%BE%E3%81%A7%E3%81%AE%E3%81%BE%E3%81%A8%E3%82%81\"><\/span><strong>9. \u3053\u3053\u307e\u3067\u306e\u307e\u3068\u3081<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>22q11.2\u6b20\u5931\u75c7\u5019\u7fa4\uff08<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/microdeletion-syndrome\/\">\u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa4<\/a>\uff09\u306f\u3001\u591a\u5f69\u306a\u81e8\u5e8a\u75c7\u72b6\u3092\u5448\u3059\u308b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u75be\u60a3\u3067\u3042\u308a\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u306e\u610f\u7fa9\u304c\u5927\u304d\u3044\u75be\u60a3\u3067\u3059\u3002NIPT\u306e\u5c0e\u5165\u306b\u3088\u308a\u3001\u6bcd\u4f53\u8840\u304b\u3089\u975e\u4fb5\u8972\u7684\u306b\u30ea\u30b9\u30af\u8a55\u4fa1\u304c\u53ef\u80fd\u306b\u306a\u308a\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>NIPT\u306b\u3088\u308b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/microdeletion-syndrome\/\">\u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa4<\/a>\u691c\u51fa\u306f\u53ef\u80fd\u3060\u304c\u3001\u611f\u5ea6\u30fb\u7279\u7570\u5ea6\u306f\u6b20\u5931\u306e\u5927\u304d\u3055\u3084\u80ce\u5150\u6bd4\u7387\u306b\u4f9d\u5b58<br><\/li>\n\n\n\n<li>\u967d\u6027\u7d50\u679c\u306f\u5fc5\u305a\u78ba\u5b9a\u8a3a\u65ad\u304c\u5fc5\u8981<br><\/li>\n\n\n\n<li>\u598a\u5a66\u30fb\u5bb6\u65cf\u3078\u306e\u5fc3\u7406\u7684\u30b5\u30dd\u30fc\u30c8\u3001\u533b\u7642\u8005\u306b\u3088\u308b\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u304c\u4e0d\u53ef\u6b20<br><\/li>\n<\/ul>\n\n\n\n<p>\u4eca\u5f8c\u3001\u30bf\u30fc\u30b2\u30c3\u30c8\u89e3\u6790\u3084\u30b7\u30fc\u30af\u30a8\u30f3\u30b9\u6280\u8853\u306e\u9032\u6b69\u306b\u3088\u308a\u3001\u3055\u3089\u306b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u306e\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u7cbe\u5ea6\u306f\u5411\u4e0a\u3059\u308b\u3053\u3068\u304c\u671f\u5f85\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u598a\u5a66\u30fb\u5bb6\u65cf\u30fb\u533b\u7642\u8005\u304c\u60c5\u5831\u3092\u5171\u6709\u3057\u3001\u9069\u5207\u306a\u610f\u601d\u6c7a\u5b9a\u3092\u884c\u3046\u3053\u3068\u304c\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u306e\u4fa1\u5024\u3092\u6700\u5927\u5316\u3059\u308b\u9375\u3067\u3059\u3002<\/p>\n\n\n\n<p><\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"10_NIPT%E3%81%AB%E3%82%88%E3%82%8B%E3%83%87%E3%82%A3%E3%82%B8%E3%83%A7%E3%83%BC%E3%82%B8%E7%97%87%E5%80%99%E7%BE%A4%E3%82%B9%E3%82%AF%E3%83%AA%E3%83%BC%E3%83%8B%E3%83%B3%E3%82%B0%E3%81%AE%E6%B5%81%E3%82%8C\"><\/span><strong>10. NIPT\u306b\u3088\u308b\u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa4\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u306e\u6d41\u308c<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>\u598a\u5a66\u306e\u540c\u610f\u30fb\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/strong><strong><br><\/strong> NIPT\u3092\u53d7\u3051\u308b\u524d\u306b\u3001\u533b\u7642\u8005\u306b\u3088\u308b\u5341\u5206\u306a\u8aac\u660e\u3068\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u304c\u884c\u308f\u308c\u307e\u3059\u3002\u691c\u67fb\u306e\u76ee\u7684\u3001\u691c\u51fa\u53ef\u80fd\u306a\u7570\u5e38\u3001\u9650\u754c\u3001\u507d\u967d\u6027\u30fb\u507d\u9670\u6027\u306e\u53ef\u80fd\u6027\u3092\u7406\u89e3\u3057\u305f\u4e0a\u3067\u540c\u610f\u304c\u5fc5\u8981\u3067\u3059\u3002<br><\/li>\n\n\n\n<li><strong>\u6bcd\u4f53\u8840\u306e\u63a1\u53d6<\/strong><strong><br><\/strong> \u598a\u5a2010\u9031\u4ee5\u964d\u306b10 ml\u7a0b\u5ea6\u306e\u8840\u6db2\u3092\u63a1\u53d6\u3057\u307e\u3059\u3002\u6bcd\u4f53\u8840\u4e2d\u306b\u306f\u80ce\u5150\u7531\u6765\u306e\u7d30\u80de\u30d5\u30ea\u30fcDNA\uff08cffDNA\uff09\u304c\u542b\u307e\u308c\u3066\u3044\u307e\u3059\u3002<br><\/li>\n\n\n\n<li><strong>DNA\u62bd\u51fa\u30fb\u89e3\u6790<\/strong><strong><br><\/strong> \u63a1\u53d6\u3057\u305f\u8840\u6db2\u304b\u3089cffDNA\u3092\u62bd\u51fa\u3057\u3001\u6b21\u4e16\u4ee3\u30b7\u30fc\u30af\u30a8\u30f3\u30b7\u30f3\u30b0\uff08NGS\uff09\u3084\u30bf\u30fc\u30b2\u30c3\u30c8\u30ad\u30e3\u30d7\u30c1\u30e3\u578b\u89e3\u6790\u306722q11.2\u9818\u57df\u306e\u30b3\u30d4\u30fc\u6570\u3092\u8a55\u4fa1\u3057\u307e\u3059\u3002<br><\/li>\n\n\n\n<li><strong>\u7d50\u679c\u5224\u5b9a<\/strong><strong><br><\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u9670\u6027\uff08Low Risk\uff09<\/strong>\uff1a22q11.2\u6b20\u5931\u306e\u30ea\u30b9\u30af\u306f\u4f4e\u3044\u3068\u5224\u65ad<br><\/li>\n\n\n\n<li><strong>\u967d\u6027\uff08High Risk\uff09<\/strong>\uff1a22q11.2\u6b20\u5931\u306e\u30ea\u30b9\u30af\u304c\u9ad8\u3044\u3068\u5224\u5b9a\u3002\u78ba\u5b9a\u8a3a\u65ad\u306e\u305f\u3081<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>\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002<br><\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5831\u544a\u30fb\u30d5\u30a9\u30ed\u30fc\u30a2\u30c3\u30d7<\/strong><strong><br><\/strong> \u7d50\u679c\u306b\u57fa\u3065\u304d\u3001\u533b\u7642\u8005\u3084\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u304c\u598a\u5a66\u30fb\u5bb6\u65cf\u306b\u8aac\u660e\u3057\u307e\u3059\u3002\u967d\u6027\u7d50\u679c\u306e\u5834\u5408\u306f\u51fa\u751f\u5f8c\u306e\u7ba1\u7406\u3084\u65e9\u671f\u4ecb\u5165\u306e\u8a08\u753b\u304c\u7acb\u3066\u3089\u308c\u307e\u3059\u3002<br><\/li>\n<\/ol>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"11_%E5%8C%BB%E7%99%82%E6%A9%9F%E9%96%A2%E9%81%B8%E3%81%B3%E3%81%AE%E3%83%9D%E3%82%A4%E3%83%B3%E3%83%88\"><\/span><strong>11. \u533b\u7642\u6a5f\u95a2\u9078\u3073\u306e\u30dd\u30a4\u30f3\u30c8<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/microdeletion-syndrome\/\">\u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa4<\/a>\u306eNIPT\u306f\u6a19\u6e96\u7684\u306a\u691c\u67fb\u3088\u308a\u3082\u89e3\u6790\u304c\u9ad8\u5ea6\u3067\u3042\u308b\u305f\u3081\u3001\u4ee5\u4e0b\u306e\u6761\u4ef6\u3092\u6e80\u305f\u3059\u533b\u7642\u6a5f\u95a2\u3067\u306e\u53d7\u691c\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7d4c\u9a13\u8c4a\u5bcc\u306a\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u4f53\u5236\u304c\u3042\u308b<\/strong><strong><br><\/strong><\/li>\n\n\n\n<li><strong>\u30bf\u30fc\u30b2\u30c3\u30c8<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u306b\u5bfe\u5fdc\u3057\u305fNIPT\u691c\u67fb\u3092\u63d0\u4f9b<\/strong><strong><br><\/strong><\/li>\n\n\n\n<li><strong>\u691c\u67fb\u5f8c\u306e\u78ba\u5b9a\u8a3a\u65ad\u306b\u8fc5\u901f\u306b\u5bfe\u5fdc\u53ef\u80fd<\/strong>\uff08<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chorionic-villus-test\/\">\u7d68\u6bdb\u691c\u67fb<\/a>\uff09<br><\/li>\n\n\n\n<li><strong>\u691c\u67fb\u7cbe\u5ea6\u306e\u516c\u8868\u30fb\u5b9f\u7e3e\u304c\u3042\u308b<\/strong><strong><br><\/strong><\/li>\n<\/ul>\n\n\n\n<p>\u4fe1\u983c\u3067\u304d\u308b\u65bd\u8a2d\u3092\u9078\u3076\u3053\u3068\u3067\u3001\u598a\u5a66\u306e\u4e0d\u5b89\u3092\u8efd\u6e1b\u3057\u3001\u6b63\u78ba\u306a\u610f\u601d\u6c7a\u5b9a\u304c\u53ef\u80fd\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"12_%E9%81%BA%E4%BC%9D%E3%82%AB%E3%82%A6%E3%83%B3%E3%82%BB%E3%83%AA%E3%83%B3%E3%82%B0%E3%81%AE%E9%87%8D%E8%A6%81%E6%80%A7\"><\/span><strong>12. \u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u91cd\u8981\u6027<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/microdeletion-syndrome\/\">\u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa4<\/a>NIPT\u306e\u7d50\u679c\u306f\u3001\u5358\u306b\u300c\u30ea\u30b9\u30af\u306e\u9ad8\u4f4e\u300d\u3092\u793a\u3059\u306e\u307f\u3067\u3059\u3002\u598a\u5a66\u30fb\u5bb6\u65cf\u306b\u3068\u3063\u3066\u91cd\u8981\u306a\u306e\u306f\u3001\u7d50\u679c\u306e\u610f\u5473\u3092\u6b63\u3057\u304f\u7406\u89e3\u3059\u308b\u3053\u3068\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u967d\u6027\u7d50\u679c\u306e\u5834\u5408<\/strong><strong><br><\/strong> \u78ba\u5b9a\u8a3a\u65ad\u306e\u6d41\u308c\u3001\u51fa\u751f\u5f8c\u306e\u533b\u7642\u30fb\u6559\u80b2\u4f53\u5236\u3001\u751f\u6d3b\u4e0a\u306e\u914d\u616e\u3092\u542b\u3081\u305f\u610f\u601d\u6c7a\u5b9a\u304c\u5fc5\u8981\u3067\u3059\u3002<br><\/li>\n\n\n\n<li><strong>\u9670\u6027\u7d50\u679c\u306e\u5834\u5408<\/strong><strong><br><\/strong> \u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u7d50\u679c\u304c\u30ea\u30b9\u30af\u4f4e\u4e0b\u3092\u793a\u3059\u3082\u306e\u306e\u3001\u5168\u3066\u306e\u7570\u5e38\u3092\u9664\u5916\u3067\u304d\u308b\u308f\u3051\u3067\u306f\u306a\u3044\u3053\u3068\u3092\u7406\u89e3\u3059\u308b\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u3002<br><\/li>\n\n\n\n<li><strong>\u5fc3\u7406\u7684\u30b5\u30dd\u30fc\u30c8<\/strong><strong><br><\/strong> \u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u691c\u67fb\u306f\u598a\u5a66\u306b\u7cbe\u795e\u7684\u8ca0\u62c5\u3092\u4e0e\u3048\u308b\u3053\u3068\u304c\u3042\u308b\u305f\u3081\u3001\u533b\u7642\u8005\u3084\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u306b\u3088\u308b\u5fc3\u7406\u7684\u30b5\u30dd\u30fc\u30c8\u3082\u4e0d\u53ef\u6b20\u3067\u3059\u3002<br><\/li>\n<\/ul>\n\n\n\n<p><\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"13_%E4%BB%8A%E5%BE%8C%E3%81%AE%E5%B1%95%E6%9C%9B\"><\/span><strong>13. \u4eca\u5f8c\u306e\u5c55\u671b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u8fd1\u5e74\u306e\u7814\u7a76\u30fb\u6280\u8853\u9032\u6b69\u306b\u3088\u308a\u3001NIPT\u306f\u4ee5\u4e0b\u306e\u65b9\u5411\u3067\u767a\u5c55\u304c\u671f\u5f85\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u30fb\u91cd\u8907\u306e\u691c\u51fa\u7cbe\u5ea6\u5411\u4e0a<\/strong><strong><br><\/strong> \u30b7\u30fc\u30af\u30a8\u30f3\u30b9\u6df1\u5ea6\u306e\u5411\u4e0a\u3084\u89e3\u6790\u30a2\u30eb\u30b4\u30ea\u30ba\u30e0\u306e\u9032\u5316\u306b\u3088\u308a\u3001\u3088\u308a\u5c0f\u3055\u306a\u6b20\u5931\u3067\u3082\u691c\u51fa\u53ef\u80fd\u306b\u306a\u308b\u898b\u8fbc\u307f\u3067\u3059\u3002<br><\/li>\n\n\n\n<li><strong>\u591a\u75be\u60a3\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0<\/strong><strong><br><\/strong> <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/microdeletion-syndrome\/\">\u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa4<\/a>\u3060\u3051\u3067\u306a\u304f\u3001\u4ed6\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u75c7\u5019\u7fa4\uff08<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/1p-36-deletion-syndrome\/\">1p36\u6b20\u5931\u75c7\u5019\u7fa4<\/a>\u3001Cri-du-chat\u75c7\u5019\u7fa4\u306a\u3069\uff09\u3078\u306e\u5fdc\u7528\u304c\u7814\u7a76\u3055\u308c\u3066\u3044\u307e\u3059\u3002<br><\/li>\n\n\n\n<li><strong>\u81e8\u5e8a\u5b9f\u88c5\u306e\u6a19\u6e96\u5316<\/strong><strong><br><\/strong> \u598a\u5a66\u5168\u4f53\u3078\u306e\u666e\u53ca\u3084\u3001\u56fd\u969b\u7684\u306a\u30ac\u30a4\u30c9\u30e9\u30a4\u30f3\u6574\u5099\u306b\u3088\u308a\u3001\u691c\u67fb\u7cbe\u5ea6\u3068\u5b89\u5168\u6027\u306e\u4e21\u7acb\u304c\u671f\u5f85\u3055\u308c\u307e\u3059\u3002<br><\/li>\n\n\n\n<li><strong>\u51fa\u751f\u524d\u533b\u7642\u3068\u306e\u7d71\u5408<\/strong><strong><br><\/strong> \u5fc3\u75be\u60a3\u3084\u514d\u75ab\u7570\u5e38\u306a\u3069\u3001\u51fa\u751f\u5f8c\u306e\u6cbb\u7642\u8a08\u753b\u3068\u9023\u52d5\u3057\u305f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u306e\u4f53\u7cfb\u5316\u304c\u9032\u3080\u3067\u3057\u3087\u3046\u3002<br><\/li>\n<\/ol>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"14_%E3%81%BE%E3%81%A8%E3%82%81\"><\/span><strong>14. \u307e\u3068\u3081<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>22q11.2\u6b20\u5931\u75c7\u5019\u7fa4\uff08<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/microdeletion-syndrome\/\">\u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa4<\/a>\uff09\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u306b\u3088\u308b\u65e9\u671f\u767a\u898b\u304c\u91cd\u8981\u306a<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosomal-abnormality\/\">\u67d3\u8272\u4f53\u7570\u5e38<\/a>\u3067\u3059\u3002NIPT\u306e\u5c0e\u5165\u306b\u3088\u308a\u3001\u975e\u4fb5\u8972\u7684\u306b\u6bcd\u4f53\u8840\u304b\u3089\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u304c\u53ef\u80fd\u3068\u306a\u308a\u3001\u598a\u5a66\u30fb\u533b\u7642\u8005\u306b\u3068\u3063\u3066\u591a\u304f\u306e\u5229\u70b9\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u30dd\u30a4\u30f3\u30c8\u3092\u6574\u7406\u3059\u308b\u3068\u4ee5\u4e0b\u306e\u901a\u308a\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>NIPT\u3067<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/microdeletion-syndrome\/\">\u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa4<\/a>\u306e\u30ea\u30b9\u30af\u8a55\u4fa1\u304c\u53ef\u80fd<br><\/li>\n\n\n\n<li>\u967d\u6027\u7d50\u679c\u306f\u78ba\u5b9a\u8a3a\u65ad\uff08<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chorionic-villus-test\/\">\u7d68\u6bdb\u691c\u67fb<\/a>\uff09\u304c\u5fc5\u9808<br><\/li>\n\n\n\n<li>\u598a\u5a66\u30fb\u5bb6\u65cf\u3078\u306e\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u304c\u4e0d\u53ef\u6b20<br><\/li>\n\n\n\n<li>\u533b\u7642\u6a5f\u95a2\u9078\u3073\u3084\u691c\u67fb\u7cbe\u5ea6\u306e\u78ba\u8a8d\u304c\u91cd\u8981<br><\/li>\n\n\n\n<li>\u4eca\u5f8c\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u7cbe\u5ea6\u5411\u4e0a\u3068\u591a\u75be\u60a3\u5bfe\u5fdc\u304c\u671f\u5f85\u3055\u308c\u308b<br><\/li>\n<\/ul>\n\n\n\n<p>NIPT\u306f\u598a\u5a66\u3068\u533b\u7642\u8005\u306e\u610f\u601d\u6c7a\u5b9a\u3092\u652f\u63f4\u3059\u308b\u5f37\u529b\u306a\u30c4\u30fc\u30eb\u3067\u3042\u308a\u3001\u598a\u5a20\u7ba1\u7406\u306e\u65b0\u3057\u3044\u6a19\u6e96\u3068\u3057\u3066\u4f4d\u7f6e\u3065\u3051\u3089\u308c\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%8F%82%E8%80%83%E6%96%87%E7%8C%AE\"><\/span><strong>\u53c2\u8003\u6587\u732e<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ol class=\"wp-block-list\">\n<li>McDonald-McGinn DM, et al. &#8220;22q11.2 deletion syndrome.&#8221; <em>Nat Rev Dis Primers.<\/em> 2015;1:15071.<br><\/li>\n\n\n\n<li>Bassett AS, et al. &#8220;Clinical features of 22q11.2 deletion syndrome.&#8221; <em>J Med Genet.<\/em> 2011;48:131\u2013142.<br><\/li>\n\n\n\n<li>Shprintzen RJ. &#8220;Velo-cardio-facial syndrome: 30 years of study.&#8221; <em>Dev Disabil Res Rev.<\/em> 2008;14:3\u201310.<br><\/li>\n\n\n\n<li>Wapner RJ, et al. &#8220;Noninvasive prenatal screening for microdeletions.&#8221; <em>Genet Med.<\/em> 2015;17:837\u2013842.<br><\/li>\n\n\n\n<li>Petersen AK, et al. &#8220;Detection of 22q11.2 deletions in maternal plasma.&#8221; <em>Prenat Diagn.<\/em> 2017;37:136\u2013142.<br><\/li>\n\n\n\n<li>ACOG Practice Bulletin No. 226. &#8220;Screening for Fetal Chromosomal Abnormalities.&#8221; Obstet Gynecol. 2021;137:e59\u2013e81.<\/li>\n\n\n\n<li>Petersen AK, et al. &#8220;Clinical experience with noninvasive prenatal screening for 22q11.2 deletion syndrome.&#8221; <em>Prenat Diagn.<\/em> 2017;37:136\u2013142.<br><\/li>\n\n\n\n<li>Wapner RJ, et al. &#8220;Noninvasive prenatal screening for fetal microdeletions: review and future perspectives.&#8221; <em>Prenat Diagn.<\/em> 2015;35:1067\u20131078.<br><\/li>\n\n\n\n<li>Hill M, et al. &#8220;Non-invasive prenatal testing for 22q11.2 deletion syndrome: detection rates and limitations.&#8221; <em>Prenat Diagn.<\/em> 2020;40:323\u2013330.<\/li>\n<\/ol>\n","protected":false},"excerpt":{"rendered":"1. \u306f\u3058\u3081\u306b 22q11.2\u6b20\u5931\u75c7\u5019\u7fa4&#8230;\n <a 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