{"id":101118,"date":"2025-06-12T16:15:51","date_gmt":"2025-06-12T07:15:51","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=101118"},"modified":"2026-07-27T06:23:36","modified_gmt":"2026-07-26T21:23:36","slug":"rhizomelic-chondrodysplasia-punctata-type-3","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/rhizomelic-chondrodysplasia-punctata-type-3\/","title":{"rendered":"\u30ea\u30be\u30e1\u30ea\u30c3\u30af\u70b9\u72b6\u8edf\u9aa8\u7570\u5f62\u6210\u30bf\u30a4\u30d73\u3010AGPS\u3011"},"content":{"rendered":"\n<p><strong>\u30ea\u30be\u30e1\u30ea\u30c3\u30af\u8edf\u9aa8\u7570\u5f62\u6210\u70b9\u72b6\u75c73\u578b(RCDP3)\u306f\u3001AGPS\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u8d77\u3053\u308b\u3001\u304d\u308f\u3081\u3066\u307e\u308c\u306a\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u306e\u30da\u30eb\u30aa\u30ad\u30b7\u30bd\u30fc\u30e0\u75c5\u3067\u3059\u3002<\/strong>\u8155\u3084\u592a\u3082\u3082\u306e\u9aa8\u304c\u77ed\u304f\u306a\u308b\u300c\u30ea\u30be\u30e1\u30ea\u30a2\u300d\u3001\u767d\u5185\u969c\u3001\u91cd\u5ea6\u306e\u767a\u9054\u306e\u9045\u308c\u304c\u7279\u5fb4\u3067\u3059\u3002\u539f\u56e0\u907a\u4f1d\u5b50\u306fPEX7\u907a\u4f1d\u5b50\u304c\u539f\u56e0\u306e1\u578b\u3001GNPAT\u907a\u4f1d\u5b50\u304c\u539f\u56e0\u306e2\u578b\u3068\u306f\u7570\u306a\u308a\u307e\u3059\u3002\u3053\u306e\u8a18\u4e8b\u3067\u306f\u3001AGPS\u907a\u4f1d\u5b50\u306e\u50cd\u304d\u304b\u3089\u75c7\u72b6\u30fb\u691c\u67fb\u30fb\u6cbb\u7642\u3001\u51fa\u751f\u524d\u691c\u67fb(NIPT\u306a\u3069)\u3067\u306e\u4f4d\u7f6e\u3065\u3051\u307e\u3067\u3092\u89e3\u8aac\u3057\u307e\u3059\u3002\u76e3\u4fee\u306f\u7d71\u62ec\u9662\u9577\u306e\u5ca1\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u73fe\u5834\u3067\u306f\u3001\u8d64\u3061\u3083\u3093\u306e\u907a\u4f1d\u5b50\u691c\u67fb\u7d50\u679c\u306b\u300cAGPS\u300d\u3068\u3044\u3046\u6587\u5b57\u3092\u898b\u3064\u3051\u305f\u3054\u5bb6\u65cf\u3068\u5411\u304d\u5408\u3046\u3053\u3068\u304c\u5ea6\u3005\u3042\u308a\u307e\u3059\u3002\u6975\u3081\u3066\u5e0c\u5c11\u306a\u75be\u60a3\u306e\u305f\u3081\u3001\u60c5\u5831\u304c\u5c11\u306a\u304f\u4e0d\u5b89\u304c\u52df\u308a\u3084\u3059\u3044\u306e\u3082\u5b9f\u60c5\u3067\u3059\u3002\u6b63\u78ba\u306a\u60c5\u5831\u3092\u6574\u7406\u3057\u3066\u304a\u4f1d\u3048\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u3053\u306e\u8a18\u4e8b\u3067\u308f\u304b\u308b\u3053\u3068<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>RCDP3\u306e\u539f\u56e0\u907a\u4f1d\u5b50AGPS\u3068\u30011\u578b(PEX7)\u30fb2\u578b(GNPAT)\u3068\u306e\u9055\u3044<\/li>\n\n\n\n<li>\u9aa8\u30fb\u76ee\u30fb\u795e\u7d4c\u306b\u73fe\u308c\u308b\u5178\u578b\u7684\u306a\u75c7\u72b6\u3068\u3001\u8efd\u75c7\u578b\u3068\u306e\u9055\u3044<\/li>\n\n\n\n<li>\u751f\u5316\u5b66\u7684\u691c\u67fb\u30fb\u753b\u50cf\u691c\u67fb\u30fb\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u306e\u9032\u3081\u65b9<\/li>\n\n\n\n<li>NIPT\u306a\u3069\u51fa\u751f\u524d\u691c\u67fb\u3067\u308f\u304b\u308b\u3053\u3068\u30fb\u308f\u304b\u3089\u306a\u3044\u3053\u3068<\/li>\n\n\n\n<li>\u73fe\u5728\u306e\u6cbb\u7642\u30fb\u7ba1\u7406\u306e\u9078\u629e\u80a2\u3068\u3054\u5bb6\u65cf\u3078\u306e\u652f\u63f4<\/li>\n<\/ul>\n\n\n<!--nipt_mono-->\r\n<div class=\"nipt-mono\">\r\n    <div class=\"nipt-mono-btn\">\r\n        <a href=\"\/nipt\/nipt-mono\/\">\r\n            <img decoding=\"async\" loading=\"lazy\" src=\"\/nipt\/wp-content\/uploads\/2026\/03\/NIPT-MONO.webp\" alt=\"NIPT-MONO\u3067\u8abf\u3079\u3089\u308c\u307e\u3059\">\r\n         <\/a>\r\n    <\/div>\r\n<\/div>\r\n\r\n<style>\r\n.nipt-mono {\r\n    text-align: center; \/* \u89aa\u8981\u7d20\u3067\u6a2a\u4e2d\u592e *\/\r\n}\r\n.nipt-mono a img {\r\n    display: inline-block; \/* \u753b\u50cf\u3092\u30a4\u30f3\u30e9\u30a4\u30f3\u30d6\u30ed\u30c3\u30af\u5316\u3057\u3066 text-align \u306b\u53cd\u6620 *\/\r\n    width: 333px;\r\n}\r\n<\/style>\r\n<!--\/nipt_mono-->\r\n\r\n\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/app\/registration\/\"><\/p>\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u78ba\u304b\u306a\u30c7\u30fc\u30bf\u306b\u57fa\u3065\u3044\u305f\u9078\u629e<br \/>\u5b89\u5fc3\u306e<span>NIPT\u691c\u67fb<\/span><\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p><\/a>\n<\/div>\n<\/div>\n\n\n\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_85 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">\u76ee\u6b21<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" height=\"10px\" viewBox=\"0 0 24 24\" version=\"1.2\" baseProfile=\"tiny\"><path d=\"M18.2 9.3l-6.2-6.3-6.2 6.3c-.2.2-.3.4-.3.7s.1.5.3.7c.2.2.4.3.7.3h11c.3 0 .5-.1.7-.3.2-.2.3-.5.3-.7s-.1-.5-.3-.7zM5.8 14.7l6.2 6.3 6.2-6.3c.2-.2.3-.5.3-.7s-.1-.5-.3-.7c-.2-.2-.4-.3-.7-.3h-11c-.3 0-.5.1-.7.3-.2.2-.3.5-.3.7s.1.5.3.7z\"\/><\/svg><\/span><\/span><\/span><\/a><\/span><\/div>\n<nav><ul class='ez-toc-list ez-toc-list-level-1 ' ><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-1\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/rhizomelic-chondrodysplasia-punctata-type-3\/#1_RCDP3%E3%81%A8%E3%81%AF%EF%BD%9C%E5%8E%9F%E5%9B%A0%E9%81%BA%E4%BC%9D%E5%AD%90AGPS%E3%81%A83%E3%81%A4%E3%81%AE%E3%82%BF%E3%82%A4%E3%83%97%E3%81%AE%E9%81%95%E3%81%84\" >1. RCDP3\u3068\u306f\uff5c\u539f\u56e0\u907a\u4f1d\u5b50AGPS\u30683\u3064\u306e\u30bf\u30a4\u30d7\u306e\u9055\u3044<\/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\/rhizomelic-chondrodysplasia-punctata-type-3\/#2_%E5%8E%9F%E5%9B%A0%E3%81%A8%E7%97%85%E6%85%8B%E7%94%9F%E7%90%86%EF%BD%9C%E3%83%97%E3%83%A9%E3%82%B9%E3%83%9E%E3%83%AD%E3%83%BC%E3%82%B2%E3%83%B3%E5%90%88%E6%88%90%E3%81%AE%E5%81%9C%E6%AD%A2\" >2. \u539f\u56e0\u3068\u75c5\u614b\u751f\u7406\uff5c\u30d7\u30e9\u30b9\u30de\u30ed\u30fc\u30b2\u30f3\u5408\u6210\u306e\u505c\u6b62<\/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\/rhizomelic-chondrodysplasia-punctata-type-3\/#3_%E7%96%AB%E5%AD%A6%EF%BD%9C%E4%B8%96%E7%95%8C%E3%81%A7%E3%81%A9%E3%82%8C%E3%81%8F%E3%82%89%E3%81%84%E3%81%BE%E3%82%8C%E3%81%AA%E7%97%85%E6%B0%97%E3%81%8B\" >3. \u75ab\u5b66\uff5c\u4e16\u754c\u3067\u3069\u308c\u304f\u3089\u3044\u307e\u308c\u306a\u75c5\u6c17\u304b<\/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\/rhizomelic-chondrodysplasia-punctata-type-3\/#4_%E7%97%87%E7%8A%B6%EF%BD%9C%E5%85%B8%E5%9E%8B%E4%BE%8B%E3%81%A8%E8%BB%BD%E7%97%87%E5%9E%8B%E3%81%AE%E9%81%95%E3%81%84\" >4. \u75c7\u72b6\uff5c\u5178\u578b\u4f8b\u3068\u8efd\u75c7\u578b\u306e\u9055\u3044<\/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\/rhizomelic-chondrodysplasia-punctata-type-3\/#%E5%85%B8%E5%9E%8B%E7%9A%84%E3%81%AA%E7%97%87%E7%8A%B6%E5%8F%A4%E5%85%B8%E7%9A%84RCDP3\" >\u5178\u578b\u7684\u306a\u75c7\u72b6(\u53e4\u5178\u7684RCDP3)<\/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\/rhizomelic-chondrodysplasia-punctata-type-3\/#%E8%BB%BD%E7%97%87%E5%9E%8B%E9%9D%9E%E5%85%B8%E5%9E%8B%E5%9E%8B\" >\u8efd\u75c7\u578b(\u975e\u5178\u578b\u578b)<\/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\/rhizomelic-chondrodysplasia-punctata-type-3\/#5_%E6%A4%9C%E6%9F%BB%E3%83%BB%E8%A8%BA%E6%96%AD%E3%81%AE%E9%80%B2%E3%82%81%E6%96%B9\" >5. \u691c\u67fb\u30fb\u8a3a\u65ad\u306e\u9032\u3081\u65b9<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/rhizomelic-chondrodysplasia-punctata-type-3\/#%E7%94%9F%E5%8C%96%E5%AD%A6%E7%9A%84%E6%A4%9C%E6%9F%BB\" >\u751f\u5316\u5b66\u7684\u691c\u67fb<\/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\/rhizomelic-chondrodysplasia-punctata-type-3\/#%E7%94%BB%E5%83%8F%E6%A4%9C%E6%9F%BB\" >\u753b\u50cf\u691c\u67fb<\/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\/rhizomelic-chondrodysplasia-punctata-type-3\/#%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-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/rhizomelic-chondrodysplasia-punctata-type-3\/#6_%E5%87%BA%E7%94%9F%E5%89%8D%E6%A4%9C%E6%9F%BBNIPT%E3%81%AA%E3%81%A9%E3%81%A7%E3%82%8F%E3%81%8B%E3%82%8B%E3%81%93%E3%81%A8%E3%83%BB%E3%82%8F%E3%81%8B%E3%82%89%E3%81%AA%E3%81%84%E3%81%93%E3%81%A8\" >6. \u51fa\u751f\u524d\u691c\u67fb(NIPT\u306a\u3069)\u3067\u308f\u304b\u308b\u3053\u3068\u30fb\u308f\u304b\u3089\u306a\u3044\u3053\u3068<\/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\/rhizomelic-chondrodysplasia-punctata-type-3\/#7_%E6%B2%BB%E7%99%82%E6%B3%95%E3%81%A8%E7%AE%A1%E7%90%86%EF%BD%9C%E5%AF%BE%E7%97%87%E7%99%82%E6%B3%95%E3%81%AB%E3%82%88%E3%82%8B%E7%94%9F%E6%B4%BB%E3%81%AE%E8%B3%AA%E3%81%AE%E7%B6%AD%E6%8C%81\" >7. \u6cbb\u7642\u6cd5\u3068\u7ba1\u7406\uff5c\u5bfe\u75c7\u7642\u6cd5\u306b\u3088\u308b\u751f\u6d3b\u306e\u8cea\u306e\u7dad\u6301<\/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\/rhizomelic-chondrodysplasia-punctata-type-3\/#8_%E4%BA%88%E5%BE%8C%EF%BD%9C%E7%B5%8C%E9%81%8E%E3%81%AB%E3%81%AF%E5%B9%85%E3%81%8C%E3%81%82%E3%82%8B\" >8. \u4e88\u5f8c\uff5c\u7d4c\u904e\u306b\u306f\u5e45\u304c\u3042\u308b<\/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\/rhizomelic-chondrodysplasia-punctata-type-3\/#9_%E3%81%94%E5%AE%B6%E6%97%8F%E3%81%B8%EF%BD%9C%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%A8%E5%BF%83%E3%81%AE%E3%82%B1%E3%82%A2\" >9. \u3054\u5bb6\u65cf\u3078\uff5c\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3068\u5fc3\u306e\u30b1\u30a2<\/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\/rhizomelic-chondrodysplasia-punctata-type-3\/#%E3%81%BE%E3%81%A8%E3%82%81%EF%BD%9C%E6%AD%A3%E3%81%97%E3%81%84%E7%90%86%E8%A7%A3%E3%81%8C%E6%AC%A1%E3%81%AE%E4%B8%80%E6%AD%A9%E3%81%AB%E3%81%A4%E3%81%AA%E3%81%8C%E3%82%8B\" >\u307e\u3068\u3081\uff5c\u6b63\u3057\u3044\u7406\u89e3\u304c\u6b21\u306e\u4e00\u6b69\u306b\u3064\u306a\u304c\u308b<\/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\/rhizomelic-chondrodysplasia-punctata-type-3\/#%E3%82%88%E3%81%8F%E3%81%82%E3%82%8B%E8%B3%AA%E5%95%8FFAQ\" >\u3088\u304f\u3042\u308b\u8cea\u554f(FAQ)<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/rhizomelic-chondrodysplasia-punctata-type-3\/#RCDP3%E3%81%A8RCDP1%E3%83%BBRCDP2%E3%81%AF%E4%BD%95%E3%81%8C%E9%81%95%E3%81%84%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\" >RCDP3\u3068RCDP1\u30fbRCDP2\u306f\u4f55\u304c\u9055\u3044\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-18\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/rhizomelic-chondrodysplasia-punctata-type-3\/#AGPS%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AB%E5%A4%89%E7%95%B0%E3%81%8C%E8%A6%8B%E3%81%A4%E3%81%8B%E3%82%8C%E3%81%B0%E5%BF%85%E3%81%9ARCDP3%E3%81%A8%E8%A8%BA%E6%96%AD%E3%81%95%E3%82%8C%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\" >AGPS\u907a\u4f1d\u5b50\u306b\u5909\u7570\u304c\u898b\u3064\u304b\u308c\u3070\u5fc5\u305aRCDP3\u3068\u8a3a\u65ad\u3055\u308c\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-19\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/rhizomelic-chondrodysplasia-punctata-type-3\/#%E5%87%BA%E7%94%9F%E5%89%8D%E6%A4%9C%E6%9F%BBNIPT%E3%81%A7RCDP3%E3%81%AF%E3%82%8F%E3%81%8B%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\" >\u51fa\u751f\u524d\u691c\u67fb(NIPT)\u3067RCDP3\u306f\u308f\u304b\u308a\u307e\u3059\u304b\uff1f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-20\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/rhizomelic-chondrodysplasia-punctata-type-3\/#%E6%AC%A1%E3%81%AE%E5%A6%8A%E5%A8%A0%E3%81%A7%E3%82%82%E5%90%8C%E3%81%98%E7%97%85%E6%B0%97%E3%81%AB%E3%81%AA%E3%82%8B%E7%A2%BA%E7%8E%87%E3%81%AF%E3%81%82%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\" >\u6b21\u306e\u598a\u5a20\u3067\u3082\u540c\u3058\u75c5\u6c17\u306b\u306a\u308b\u78ba\u7387\u306f\u3042\u308a\u307e\u3059\u304b\uff1f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-21\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/rhizomelic-chondrodysplasia-punctata-type-3\/#%E5%8C%BB%E7%99%82%E8%B2%BB%E5%8A%A9%E6%88%90%E3%81%AE%E5%AF%BE%E8%B1%A1%E3%81%AB%E3%81%AA%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\" >\u533b\u7642\u8cbb\u52a9\u6210\u306e\u5bfe\u8c61\u306b\u306a\u308a\u307e\u3059\u304b\uff1f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-22\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/rhizomelic-chondrodysplasia-punctata-type-3\/#%E3%81%8D%E3%82%87%E3%81%86%E3%81%A0%E3%81%84%E3%82%84%E8%A6%AA%E6%88%9A%E3%81%AE%E9%81%BA%E4%BC%9D%E5%AD%90%E6%A4%9C%E6%9F%BB%E3%81%AF%E5%BF%85%E8%A6%81%E3%81%A7%E3%81%99%E3%81%8B%EF%BC%9F\" >\u304d\u3087\u3046\u3060\u3044\u3084\u89aa\u621a\u306e\u907a\u4f1d\u5b50\u691c\u67fb\u306f\u5fc5\u8981\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-23\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/rhizomelic-chondrodysplasia-punctata-type-3\/#%E7%9B%A3%E4%BF%AE%E8%80%85%E6%83%85%E5%A0%B1\" >\u76e3\u4fee\u8005\u60c5\u5831<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-24\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/rhizomelic-chondrodysplasia-punctata-type-3\/#%E5%BC%95%E7%94%A8%E6%96%87%E7%8C%AE%EF%BD%9CReferences\" >\u5f15\u7528\u6587\u732e\uff5cReferences<\/a><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_RCDP3%E3%81%A8%E3%81%AF%EF%BD%9C%E5%8E%9F%E5%9B%A0%E9%81%BA%E4%BC%9D%E5%AD%90AGPS%E3%81%A83%E3%81%A4%E3%81%AE%E3%82%BF%E3%82%A4%E3%83%97%E3%81%AE%E9%81%95%E3%81%84\"><\/span><strong>1. RCDP3\u3068\u306f\uff5c\u539f\u56e0\u907a\u4f1d\u5b50AGPS\u30683\u3064\u306e\u30bf\u30a4\u30d7\u306e\u9055\u3044<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>RCDP3\u306f\u3001\u30ea\u30be\u30e1\u30ea\u30c3\u30af\u8edf\u9aa8\u7570\u5f62\u6210\u70b9\u72b6\u75c7(RCDP)\u3068\u3044\u3046\u75c5\u6c17\u306e\u30b0\u30eb\u30fc\u30d7\u306e\u3046\u3061\u3001AGPS\u907a\u4f1d\u5b50\u306e\u5909\u7570\u304c\u539f\u56e0\u3067\u8d77\u3053\u308b\u30bf\u30a4\u30d7\u3067\u3059\u3002RCDP\u306b\u306f\u539f\u56e0\u907a\u4f1d\u5b50\u306e\u7570\u306a\u308b\u8907\u6570\u306e\u578b\u304c\u3042\u308a\u3001\u6df7\u540c\u3057\u306a\u3044\u3053\u3068\u304c\u8a3a\u65ad\u306e\u7b2c\u4e00\u6b69\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<figure class=\"wp-block-table\"><table class=\"wp-block-table\"><thead><tr><th>\u5206\u985e<\/th><th>\u539f\u56e0\u907a\u4f1d\u5b50<\/th><th>\u907a\u4f1d\u5b50\u7523\u7269\u306e\u5f79\u5272<\/th><th>\u983b\u5ea6\u306e\u76ee\u5b89(\u7c73\u56fd\u30fb\u5e74\u9593\u51fa\u751f\u6570)<\/th><\/tr><\/thead><tbody>\n<tr><td>RCDP1<\/td><td>PEX7<\/td><td>\u30da\u30eb\u30aa\u30ad\u30b7\u30bd\u30fc\u30e0\u3078\u306e\u9175\u7d20\u8f38\u9001\u3092\u62c5\u3046\u53d7\u5bb9\u4f53<\/td><td>\u6700\u3082\u591a\u3044(\u63a8\u5b9a11.8\u4eba\/\u5e74)<\/td><\/tr>\n<tr><td>RCDP2<\/td><td>GNPAT<\/td><td>\u30d7\u30e9\u30b9\u30de\u30ed\u30fc\u30b2\u30f3\u5408\u6210\u9175\u7d20(DHAP\u30a2\u30b7\u30eb\u30c8\u30e9\u30f3\u30b9\u30d5\u30a7\u30e9\u30fc\u30bc)<\/td><td>\u6b21\u306b\u591a\u3044(\u63a8\u5b9a5.0\u4eba\/\u5e74)<\/td><\/tr>\n<tr><td><strong>RCDP3(\u672c\u8a18\u4e8b)<\/strong><\/td><td><strong>AGPS<\/strong><\/td><td>\u30d7\u30e9\u30b9\u30de\u30ed\u30fc\u30b2\u30f3\u5408\u6210\u9175\u7d20(\u30a2\u30eb\u30ad\u30eb-DHAP\u30b7\u30f3\u30bf\u30fc\u30bc)<\/td><td>\u6700\u3082\u307e\u308c(\u63a8\u5b9a0.3\u4eba\/\u5e74)<\/td><\/tr>\n<\/tbody><\/table><\/figure>\n\n\n\n<p>\u983b\u5ea6\u306e\u63a8\u5b9a\u5024\u306f\u3001\u907a\u4f1d\u7d71\u8a08\u5b66\u7684\u624b\u6cd5\u3092\u7528\u3044\u305f<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC8258949\/\" target=\"_blank\" rel=\"noopener\">Luisman\u3089\u306e\u75ab\u5b66\u7814\u7a76(2021\u5e74)<\/a>\u306b\u3088\u308b\u3082\u306e\u3067\u3059\u30023\u3064\u306e\u578b\u306f\u3044\u305a\u308c\u3082\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d(\u3058\u3087\u3046\u305b\u3093\u3057\u3087\u304f\u305f\u3044 \u305b\u3093\u305b\u3044 \u3044\u3067\u3093)\u3067\u3001\u4e21\u89aa\u53cc\u65b9\u304b\u3089\u5909\u7570\u907a\u4f1d\u5b50\u3092\u53d7\u3051\u7d99\u3044\u3060\u5834\u5408\u306b\u767a\u75c7\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u540d\u79f0\u304c\u4f3c\u3066\u3044\u308b\u75be\u60a3\u306b\u300c\u70b9\u72b6\u8edf\u9aa8\u7570\u5f62\u6210\u75c7(X\u9023\u9396\u9855\u6027\u578b\u30fbCDPX2)\u300d\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u3061\u3089\u306f\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u4ee3\u8b1d\u306b\u95a2\u308f\u308bEBP\u907a\u4f1d\u5b50\u306e\u5909\u7570\u304c\u539f\u56e0\u3067\u3001RCDP\u3068\u306f\u307e\u3063\u305f\u304f\u5225\u306e\u75c5\u6c17\u3067\u3059\u3002\u8a73\u3057\u304f\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chondrodysplasia-punctata-x-linked-dominant-guide\/\">X\u9023\u9396\u9855\u6027\u70b9\u72b6\u8edf\u9aa8\u7570\u5f62\u6210\u75c7(CDPX2)\u306e\u89e3\u8aac\u8a18\u4e8b<\/a>\u3092\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<p class=\"has-text-align-center\"><strong>AGPS<\/strong><\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"25\" src=\"\/nipt\/wp-content\/uploads\/2025\/06\/AGPS-hgtIdeo_genome_36105d_a74060-1024x25.png\" alt=\"AGPS\u907a\u4f1d\u5b50\u306e\u67d3\u8272\u4f53\u4e0a\u306e\u4f4d\u7f6e\u3092\u793a\u3059\u6a21\u5f0f\u56f3\" class=\"wp-image-101122\"\/><\/figure><\/div>\n\n\n<p>\u95a2\u4fc2\u3059\u308b\u907a\u4f1d\u5b50\u540d\uff1aAGPS(\u30a2\u30eb\u30ad\u30eb\u30b0\u30ea\u30bb\u30ed\u30f3\u30ea\u30f3\u9178\u5408\u6210\u9175\u7d20)<br>\u67d3\u8272\u4f53\u4e0a\u306e\u4f4d\u7f6e\uff1a\u7b2c2\u67d3\u8272\u4f53\u9577\u8155(q)31.2\u9818\u57df(2q31.2)<br>\u907a\u4f1d\u5f62\u5f0f\uff1a\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d<\/p>\n\n\n\n<p>\u5225\u540d\u3068\u3057\u3066\u3001AGPS\u6b20\u640d\u75c7\u3001\u30a2\u30eb\u30ad\u30eb\u30b0\u30ea\u30bb\u30ed\u30f3\u30ea\u30f3\u9178\u5408\u6210\u9175\u7d20\u6b20\u640d\u75c7\u306a\u3069\u306e\u547c\u3073\u65b9\u3082\u3042\u308a\u307e\u3059\u3002\u3044\u305a\u308c\u3082\u540c\u3058AGPS\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3092\u6307\u3059\u540d\u79f0\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E5%8E%9F%E5%9B%A0%E3%81%A8%E7%97%85%E6%85%8B%E7%94%9F%E7%90%86%EF%BD%9C%E3%83%97%E3%83%A9%E3%82%B9%E3%83%9E%E3%83%AD%E3%83%BC%E3%82%B2%E3%83%B3%E5%90%88%E6%88%90%E3%81%AE%E5%81%9C%E6%AD%A2\"><\/span><strong>2. \u539f\u56e0\u3068\u75c5\u614b\u751f\u7406\uff5c\u30d7\u30e9\u30b9\u30de\u30ed\u30fc\u30b2\u30f3\u5408\u6210\u306e\u505c\u6b62<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>AGPS\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306f\u3001\u7d30\u80de\u819c\u306e\u6750\u6599\u3068\u306a\u308b\u8102\u8cea\u300c\u30d7\u30e9\u30b9\u30de\u30ed\u30fc\u30b2\u30f3\u300d\u306e\u5408\u6210\u3092\u6b62\u3081\u3066\u3057\u307e\u3044\u307e\u3059\u3002\u3053\u308c\u304c\u591a\u81d3\u5668\u306b\u308f\u305f\u308b\u75c7\u72b6\u306e\u6839\u672c\u539f\u56e0\u3067\u3059\u3002<\/p>\n\n\n\n<p>AGPS\u907a\u4f1d\u5b50\u306f\u3001\u7d30\u80de\u5185\u306e\u5c0f\u3055\u306a\u5668\u5b98\u300c\u30da\u30eb\u30aa\u30ad\u30b7\u30bd\u30fc\u30e0\u300d\u306e\u4e2d\u3067\u50cd\u304f\u9175\u7d20\u306e\u8a2d\u8a08\u56f3\u3067\u3059\u3002\u3053\u306e\u9175\u7d20(\u30a2\u30eb\u30ad\u30eb-DHAP\u30b7\u30f3\u30bf\u30fc\u30bc)\u306f\u3001\u30d7\u30e9\u30b9\u30de\u30ed\u30fc\u30b2\u30f3\u3068\u3044\u3046\u7279\u6b8a\u306a\u8102\u8cea\u306e\u5408\u6210\u306b\u6b20\u304b\u305b\u307e\u305b\u3093\u3002\u30d7\u30e9\u30b9\u30de\u30ed\u30fc\u30b2\u30f3\u306f\u795e\u7d4c\u30fb\u5fc3\u81d3\u30fb\u80ba\u306a\u3069\u306e\u7d30\u80de\u819c\u306b\u591a\u304f\u542b\u307e\u308c\u3001\u819c\u306e\u67d4\u8edf\u6027\u3092\u4fdd\u3061\u3001\u6d3b\u6027\u9178\u7d20\u304b\u3089\u7d30\u80de\u3092\u5b88\u308b\u5f79\u5272\u3092\u62c5\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u30de\u30a6\u30b9\u30e2\u30c7\u30eb\u3092\u7528\u3044\u305f<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC4151185\/\" target=\"_blank\" rel=\"noopener\">AGPS\u6b20\u640d\u306e\u7814\u7a76<\/a>\u3067\u306f\u3001\u30d7\u30e9\u30b9\u30de\u30ed\u30fc\u30b2\u30f3\u6b20\u4e4f\u304c\u9aa8\u306e\u77f3\u7070\u5316\u7570\u5e38\u3084\u795e\u7d4c\u767a\u9054\u306e\u969c\u5bb3\u306b\u76f4\u63a5\u3064\u306a\u304c\u308b\u3053\u3068\u304c\u793a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u4e21\u89aa\u304b\u3089\u4e00\u3064\u305a\u3064\u5909\u7570\u3092\u53d7\u3051\u7d99\u3050\u300c\u4e21\u30a2\u30ec\u30eb\u6027\u300d\u306e\u5909\u7570\u304c\u3042\u3063\u3066\u306f\u3058\u3081\u3066\u767a\u75c7\u3059\u308b\u70b9\u3082\u3001RCDP3\u306e\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u8208\u5473\u6df1\u3044\u3053\u3068\u306b\u3001\u8840\u4e2d\u30d7\u30e9\u30b9\u30de\u30ed\u30fc\u30b2\u30f3\u6fc3\u5ea6\u3068\u75c7\u72b6\u306e\u91cd\u3055\u306f\u5fc5\u305a\u3057\u3082\u6bd4\u4f8b\u3057\u307e\u305b\u3093\u3002\u540c\u3058AGPS\u907a\u4f1d\u5b50\u3067\u3082\u3001\u5909\u7570\u306e\u5834\u6240\u306b\u3088\u3063\u3066\u9175\u7d20\u306e\u50cd\u304d\u304c\u3069\u306e\u7a0b\u5ea6\u6b8b\u308b\u304b\u304c\u7570\u306a\u308b\u305f\u3081\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E7%96%AB%E5%AD%A6%EF%BD%9C%E4%B8%96%E7%95%8C%E3%81%A7%E3%81%A9%E3%82%8C%E3%81%8F%E3%82%89%E3%81%84%E3%81%BE%E3%82%8C%E3%81%AA%E7%97%85%E6%B0%97%E3%81%8B\"><\/span><strong>3. \u75ab\u5b66\uff5c\u4e16\u754c\u3067\u3069\u308c\u304f\u3089\u3044\u307e\u308c\u306a\u75c5\u6c17\u304b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>RCDP3\u306f\u3001RCDP\u306e\u4e2d\u3067\u3082\u7fa4\u3092\u629c\u3044\u3066\u307e\u308c\u306a\u30bf\u30a4\u30d7\u3067\u3059\u3002\u5177\u4f53\u7684\u306a\u6570\u5b57\u3067\u898b\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>RCDP\u5168\u4f53\u306e\u51fa\u751f\u983b\u5ea6\u306f\u3001\u51fa\u751f10\u4e07\u4eba\u3042\u305f\u308a0.5\u301c0.7\u4eba\u7a0b\u5ea6\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u305d\u306e\u4e2d\u3067\u3082RCDP3\u306f\u3055\u3089\u306b\u5c11\u306a\u304f\u3001<a href=\"https:\/\/www.orpha.net\/en\/disease\/detail\/309803\" target=\"_blank\" rel=\"noopener\">Orphanet<\/a>\u63b2\u8f09\u306e\u907a\u4f1d\u75ab\u5b66\u7814\u7a76(Luisman et al., 2021)\u306b\u3088\u308c\u3070\u3001\u7c73\u56fd\u3067\u306e\u5e74\u9593\u63a8\u5b9a\u51fa\u751f\u6570\u306f0.3\u4eba(95%\u4fe1\u983c\u533a\u95930.1\u301c0.8)\u3001\u82f1\u30fb\u72ec\u30fb\u4ecf\u30fb\u4f0a\u30fb\u897f\u306e\u6b27\u5dde5\u30ab\u56fd\u5408\u8a08\u3067\u306f\u5e74\u9593\u63a8\u5b9a0.5\u4eba(0.3\u301c0.8)\u306b\u3068\u3069\u307e\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u540c\u7814\u7a76\u3067\u306f\u300135\u6b73\u4ee5\u4e0b\u3067\u73fe\u5728\u751f\u5b58\u3057\u3066\u3044\u308b\u3068\u63a8\u5b9a\u3055\u308c\u308b\u60a3\u8005\u6570\u3082\u7b97\u51fa\u3055\u308c\u3066\u304a\u308a\u3001\u7c73\u56fd\u3067\u7d044\u4eba(2\u301c7\u4eba)\u3001\u6b27\u5dde5\u30ab\u56fd\u3067\u7d049\u4eba(5\u301c14\u4eba)\u3068\u3044\u3046\u898f\u6a21\u3067\u3059\u3002\u4e16\u754c\u7684\u306b\u898b\u3066\u3082\u5831\u544a\u4f8b\u306f\u3054\u304f\u308f\u305a\u304b\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/xlhypohidrotic-ectodermal-dysplasia\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">X\u9023\u9396\u6027\u4f4e\u6c57\u6027\u5916\u80da\u8449\u7570\u5f62\u6210\u3010EDA\u3011 <\/div>\n          <div class=\"blog-card-excerpt\">...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E7%97%87%E7%8A%B6%EF%BD%9C%E5%85%B8%E5%9E%8B%E4%BE%8B%E3%81%A8%E8%BB%BD%E7%97%87%E5%9E%8B%E3%81%AE%E9%81%95%E3%81%84\"><\/span><strong>4. \u75c7\u72b6\uff5c\u5178\u578b\u4f8b\u3068\u8efd\u75c7\u578b\u306e\u9055\u3044<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>RCDP3\u306e\u75c7\u72b6\u306f\u3001AGPS\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306e\u7a0b\u5ea6\u306b\u3088\u3063\u3066\u300c\u5178\u578b\u7684(\u53e4\u5178\u7684)\u300d\u3068\u300c\u8efd\u75c7\u578b\u300d\u306e2\u3064\u306e\u7d4c\u904e\u306b\u5927\u304d\u304f\u5206\u304b\u308c\u307e\u3059\u3002\u307e\u305a\u5178\u578b\u4f8b\u304b\u3089\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%85%B8%E5%9E%8B%E7%9A%84%E3%81%AA%E7%97%87%E7%8A%B6%E5%8F%A4%E5%85%B8%E7%9A%84RCDP3\"><\/span><strong>\u5178\u578b\u7684\u306a\u75c7\u72b6(\u53e4\u5178\u7684RCDP3)<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u9aa8\u306e\u7570\u5e38\uff1a<\/strong>\u4e0a\u8155\u9aa8\u3084\u5927\u817f\u9aa8\u306e\u77ed\u7e2e(\u30ea\u30be\u30e1\u30ea\u30a2)\u3001\u9aa8\u7aef\u90e8\u306e\u70b9\u72b6\u77f3\u7070\u5316\u3001\u80cc\u9aa8\u306e\u5909\u5f62<\/li>\n\n\n\n<li><strong>\u9854\u306e\u7279\u5fb4\uff1a<\/strong>\u984d\u304c\u5e83\u3044\u3001\u76ee\u304c\u96e2\u308c\u3066\u3044\u308b\u3001\u4e2d\u9854\u9762\u304c\u5e73\u5766\u3001\u9f3b\u304c\u5c0f\u3055\u304f\u4e0a\u5411\u304d\u3001\u8033\u304c\u4f4e\u3044\u4f4d\u7f6e\u306b\u3042\u308b<\/li>\n\n\n\n<li><strong>\u773c\u306e\u7570\u5e38\uff1a<\/strong>\u4e21\u76ee\u306e\u5148\u5929\u6027\u767d\u5185\u969c\u3001\u659c\u8996\u3001\u773c\u632f<\/li>\n\n\n\n<li><strong>\u795e\u7d4c\u75c7\u72b6\uff1a<\/strong>\u91cd\u5ea6\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3001\u3051\u3044\u308c\u3093\u3001\u7b4b\u7dca\u5f35\u306e\u7570\u5e38<\/li>\n\n\n\n<li><strong>\u6210\u9577\u969c\u5bb3\uff1a<\/strong>\u51fa\u751f\u6642\u304b\u3089\u306e\u8457\u3057\u3044\u4f4e\u8eab\u9577\u30fb\u4f4e\u4f53\u91cd<\/li>\n\n\n\n<li><strong>\u547c\u5438\u5668\u30fb\u5fc3\u81d3\uff1a<\/strong>\u7e70\u308a\u8fd4\u3059\u80ba\u708e\u3084\u547c\u5438\u4e0d\u5168\u3001\u5fc3\u5947\u5f62\u3092\u4f34\u3046\u4f8b\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059<\/li>\n<\/ul>\n\n\n\n<p>\u56db\u80a2\u306e\u77ed\u7e2e\u3092\u4f34\u3046\u9aa8\u7cfb\u7d71\u75be\u60a3\u306b\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/achondroplasia-causes-symptoms-treatment\/\">\u8edf\u9aa8\u7121\u5f62\u6210\u75c7<\/a>\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u3053\u3061\u3089\u306fFGFR3\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308b\u5225\u306e\u75c5\u6c17\u3067\u3001\u30d7\u30e9\u30b9\u30de\u30ed\u30fc\u30b2\u30f3\u4ee3\u8b1d\u306b\u306f\u7570\u5e38\u304c\u3042\u308a\u307e\u305b\u3093\u3002\u9aa8\u306e\u898b\u305f\u76ee\u304c\u4f3c\u3066\u3044\u3066\u3082\u539f\u56e0\u306f\u307e\u3063\u305f\u304f\u7570\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4e00\u65b9\u3001\u8efd\u75c7\u578b\u3067\u306f\u307e\u3063\u305f\u304f\u7570\u306a\u308b\u7d4c\u904e\u3092\u305f\u3069\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%BB%BD%E7%97%87%E5%9E%8B%E9%9D%9E%E5%85%B8%E5%9E%8B%E5%9E%8B\"><\/span><strong>\u8efd\u75c7\u578b(\u975e\u5178\u578b\u578b)<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u81ea\u529b\u6b69\u884c\u3084\u7c21\u5358\u306a\u8a00\u8449\u306e\u4f7f\u7528\u304c\u53ef\u80fd\u306a\u4f8b\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059<\/li>\n\n\n\n<li>\u95a2\u7bc0\u62d8\u7e2e\u3084\u810a\u67f1\u5074\u5f2f\u75c7\u3092\u4f34\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059<\/li>\n\n\n\n<li>ADHD\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7<\/a>\u306a\u3069\u306e\u767a\u9054\u306e\u7279\u6027\u304c\u307f\u3089\u308c\u308b\u4f8b\u3082\u3042\u308a\u307e\u3059<\/li>\n\n\n\n<li>\u601d\u6625\u671f\u3084\u6210\u4eba\u671f\u307e\u3067\u751f\u5b58\u3059\u308b\u60a3\u8005\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059<\/li>\n<\/ul>\n\n\n\n<p>Fallatah\u3089\u306e\u81e8\u5e8a\u7814\u7a76(2021\u5e74\u3001Journal of Inherited Metabolic Disease\u8a8c)\u3067\u306f\u3001\u8efd\u75c7\u578b\u306e\u60a3\u8005\u3067\u6b8b\u5b58\u3059\u308b\u9175\u7d20\u6d3b\u6027\u306e\u7a0b\u5ea6\u304c\u3001\u305d\u306e\u5f8c\u306e\u767a\u9054\u306e\u5e45\u3068\u95a2\u9023\u3059\u308b\u53ef\u80fd\u6027\u304c\u6307\u6458\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u305f\u3060\u3057\u500b\u4eba\u5dee\u304c\u5927\u304d\u304f\u3001\u4e00\u5f8b\u306b\u4e88\u6e2c\u3067\u304d\u308b\u3082\u306e\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"5_%E6%A4%9C%E6%9F%BB%E3%83%BB%E8%A8%BA%E6%96%AD%E3%81%AE%E9%80%B2%E3%82%81%E6%96%B9\"><\/span><strong>5. \u691c\u67fb\u30fb\u8a3a\u65ad\u306e\u9032\u3081\u65b9<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>RCDP3\u306e\u8a3a\u65ad\u306f\u3001\u751f\u5316\u5b66\u7684\u691c\u67fb\u30fb\u753b\u50cf\u691c\u67fb\u30fb\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u3092\u7d44\u307f\u5408\u308f\u305b\u3066\u78ba\u5b9a\u3057\u307e\u3059\u3002\u305d\u308c\u305e\u308c\u306e\u5f79\u5272\u3092\u9806\u306b\u898b\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%94%9F%E5%8C%96%E5%AD%A6%E7%9A%84%E6%A4%9C%E6%9F%BB\"><\/span><strong>\u751f\u5316\u5b66\u7684\u691c\u67fb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u8d64\u8840\u7403\u4e2d\u306e\u30d7\u30e9\u30b9\u30de\u30ed\u30fc\u30b2\u30f3\u91cf\u306e\u4f4e\u4e0b\uff1a\u5178\u578b\u4f8b\u3067\u306f\u307b\u3068\u3093\u3069\u691c\u51fa\u3055\u308c\u305a\u3001\u8efd\u75c7\u4f8b\u3067\u306f\u4e00\u90e8\u6b8b\u5b58\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059<\/li>\n\n\n\n<li>\u8840\u4e2d\u30d5\u30a3\u30bf\u30f3\u9178\u306e\u4e0a\u6607\uff1a\u8102\u8cea\u4ee3\u8b1d\u7570\u5e38\u306e\u6307\u6a19\u306e\u3072\u3068\u3064\u3067\u3059<\/li>\n\n\n\n<li>\u8d85\u9577\u9396\u8102\u80aa\u9178(VLCFA)\uff1a\u901a\u5e38\u306f\u6b63\u5e38\u304b\u3001\u8efd\u5ea6\u306e\u4e0a\u6607\u306b\u3068\u3069\u307e\u308a\u307e\u3059<\/li>\n<\/ul>\n\n\n\n<p>\u751f\u5316\u5b66\u7684\u691c\u67fb\u3067\u7570\u5e38\u304c\u7591\u308f\u308c\u305f\u3089\u3001\u6b21\u306f\u753b\u50cf\u691c\u67fb\u3067\u9aa8\u3068\u8133\u306e\u72b6\u614b\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%94%BB%E5%83%8F%E6%A4%9C%E6%9F%BB\"><\/span><strong>\u753b\u50cf\u691c\u67fb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u30ec\u30f3\u30c8\u30b2\u30f3\uff1a\u56db\u80a2\u8fd1\u4f4d\u90e8\u306e\u77ed\u7e2e\u3068\u9aa8\u7aef\u306e\u70b9\u72b6\u77f3\u7070\u5316\u3092\u78ba\u8a8d\u3057\u307e\u3059<\/li>\n\n\n\n<li>\u8133MRI\uff1a\u767d\u8cea\u306e\u7570\u5e38\u3084\u8133\u840e\u7e2e\u306e\u6709\u7121\u3092\u307f\u307e\u3059<\/li>\n\n\n\n<li>\u8d85\u97f3\u6ce2\u691c\u67fb\uff1a\u80a1\u95a2\u7bc0\u306e\u8131\u81fc\u3092\u78ba\u8a8d\u3057\u307e\u3059<\/li>\n\n\n\n<li>\u5fc3\u30a8\u30b3\u30fc\u691c\u67fb\uff1a\u5fc3\u81d3\u306e\u69cb\u9020\u7570\u5e38\u306e\u6709\u7121\u3092\u78ba\u8a8d\u3057\u307e\u3059<\/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>AGPS\u907a\u4f1d\u5b50\u306e\u5168\u30a8\u30af\u30bd\u30f3\u89e3\u6790(Sanger\u6cd5\u3084\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790)\u306b\u3088\u308a\u3001\u75c5\u7684\u306a\u5909\u7570\u306e\u6709\u7121\u3092\u78ba\u5b9a\u3057\u307e\u3059\u3002\u5b9f\u969b\u306e\u75c7\u4f8b\u5831\u544a\u3068\u3057\u3066\u3001<a href=\"https:\/\/doi.org\/10.7759\/cureus.20543\" target=\"_blank\" rel=\"noopener\">Shawli\u3089\u306e\u5831\u544a(2021\u5e74)<\/a>\u3067\u306f\u3001AGPS\u907a\u4f1d\u5b50\u306e\u65b0\u898f\u5909\u7570\u304cRCDP3\u306e\u78ba\u5b9a\u8a3a\u65ad\u306b\u3064\u306a\u304c\u3063\u305f\u7d4c\u904e\u304c\u7d39\u4ecb\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3054\u4e21\u89aa\u306e\u4fdd\u56e0\u8005(\u30ad\u30e3\u30ea\u30a2)\u691c\u67fb\u3082\u3001\u6b21\u306e\u304a\u5b50\u3055\u3093\u306e\u8a08\u753b\u306b\u5f79\u7acb\u3064\u91cd\u8981\u306a\u60c5\u5831\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"6_%E5%87%BA%E7%94%9F%E5%89%8D%E6%A4%9C%E6%9F%BBNIPT%E3%81%AA%E3%81%A9%E3%81%A7%E3%82%8F%E3%81%8B%E3%82%8B%E3%81%93%E3%81%A8%E3%83%BB%E3%82%8F%E3%81%8B%E3%82%89%E3%81%AA%E3%81%84%E3%81%93%E3%81%A8\"><\/span><strong>6. \u51fa\u751f\u524d\u691c\u67fb(NIPT\u306a\u3069)\u3067\u308f\u304b\u308b\u3053\u3068\u30fb\u308f\u304b\u3089\u306a\u3044\u3053\u3068<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u6a19\u6e96\u7684\u306aNIPT\u306f13\u30fb18\u30fb21\u30c8\u30ea\u30bd\u30df\u30fc\u306a\u3069\u67d3\u8272\u4f53\u306e\u6570\u306e\u7570\u5e38\u3092\u8abf\u3079\u308b\u975e\u78ba\u5b9a\u7684\u306a\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u691c\u67fb\u3067\u3042\u308a\u3001AGPS\u907a\u4f1d\u5b50\u306e\u70b9\u5909\u7570\u306f\u3082\u3068\u3082\u3068\u691c\u51fa\u5bfe\u8c61\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u8fd1\u5e74\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u30fb\u91cd\u8907\u3084\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u307e\u3067\u5bfe\u8c61\u7bc4\u56f2\u3092\u5e83\u3052\u305f\u62e1\u5f35NIPT\u3082\u767b\u5834\u3057\u3066\u3044\u307e\u3059\u3002\u305f\u3060\u3057\u3001\u3053\u3046\u3057\u305f\u62e1\u5f35\u691c\u67fb\u3082\u3042\u304f\u307e\u3067\u975e\u78ba\u5b9a\u7684\u306a\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u306b\u3068\u3069\u307e\u308b\u70b9\u306f\u5909\u308f\u308a\u307e\u305b\u3093\u3002RCDP3\u306e\u3088\u3046\u306a\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u304c\u5bb6\u7cfb\u5185\u3067\u7591\u308f\u308c\u308b\u5834\u5408\u3001\u78ba\u5b9a\u306b\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chorionic-villus-test\/\">\u7d68\u6bdb\u691c\u67fb<\/a>\u306b\u3088\u308b\u907a\u4f1d\u5b50\u89e3\u6790\u304c\u5fc5\u8981\u3067\u3059\u3002NIPT\u5168\u4f53\u306e\u691c\u67fb\u7bc4\u56f2\u3068\u9650\u754c\u306b\u3064\u3044\u3066\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-intellectual-disability-developmental-disorders-limits\/\">NIPT\u3067\u77e5\u7684\u969c\u5bb3\u306f\u5206\u304b\u308b\uff1f\u691c\u67fb\u7bc4\u56f2\u3068\u9650\u754c\u306e\u771f\u5b9f<\/a>\u3001\u7d71\u8a08\u7684\u306a\u7684\u4e2d\u7387\u306b\u3064\u3044\u3066\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-intellectual-disability-statistics-probability\/\">\u6570\u5b57\u3067\u898b\u308bNIPT\u3002\u77e5\u7684\u969c\u5bb3\u306e\u78ba\u7387\u30fb\u7684\u4e2d\u7387\u30fb\u9650\u754c<\/a>\u3082\u3042\u308f\u305b\u3066\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<p>\u904e\u53bb\u306b\u540c\u3058\u75c5\u6c17\u306e\u304a\u5b50\u3055\u3093\u3092\u6388\u304b\u3063\u305f\u3054\u5bb6\u65cf\u3084\u3001\u3054\u592b\u5a66\u304c\u3068\u3082\u306bAGPS\u907a\u4f1d\u5b50\u306e\u4fdd\u56e0\u8005\u3068\u5224\u660e\u3057\u3066\u3044\u308b\u5834\u5408\u306f\u3001\u6b21\u306e\u598a\u5a20\u306b\u5411\u3051\u3066\u51fa\u751f\u524d\u306e\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u3092\u9078\u629e\u80a2\u3068\u3057\u3066\u691c\u8a0e\u3067\u304d\u307e\u3059\u3002\u9069\u7528\u306e\u53ef\u5426\u3084\u691c\u67fb\u65b9\u6cd5\u306f\u3001\u81e8\u5e8a\u907a\u4f1d\u5c02\u9580\u533b\u306b\u3088\u308b\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3092\u901a\u3058\u3066\u500b\u5225\u306b\u5224\u65ad\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"7_%E6%B2%BB%E7%99%82%E6%B3%95%E3%81%A8%E7%AE%A1%E7%90%86%EF%BD%9C%E5%AF%BE%E7%97%87%E7%99%82%E6%B3%95%E3%81%AB%E3%82%88%E3%82%8B%E7%94%9F%E6%B4%BB%E3%81%AE%E8%B3%AA%E3%81%AE%E7%B6%AD%E6%8C%81\"><\/span><strong>7. \u6cbb\u7642\u6cd5\u3068\u7ba1\u7406\uff5c\u5bfe\u75c7\u7642\u6cd5\u306b\u3088\u308b\u751f\u6d3b\u306e\u8cea\u306e\u7dad\u6301<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>RCDP3\u306b\u306f\u73fe\u6642\u70b9\u3067\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u304c\u3042\u308a\u307e\u305b\u3093\u3002\u305d\u306e\u305f\u3081\u3001\u75c7\u72b6\u3054\u3068\u306b\u5c02\u9580\u79d1\u304c\u9023\u643a\u3059\u308b\u5bfe\u75c7\u7642\u6cd5\u304c\u4e2d\u5fc3\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u773c\u79d1\u7684\u7ba1\u7406\uff1a<\/strong>\u767d\u5185\u969c\u624b\u8853\u306a\u3069\u306e\u65e9\u671f\u5bfe\u5fdc<\/li>\n\n\n\n<li><strong>\u6574\u5f62\u5916\u79d1\u7684\u6cbb\u7642\uff1a<\/strong>\u62d8\u7e2e\u306e\u6539\u5584\u3084\u6b69\u884c\u80fd\u529b\u3092\u9ad8\u3081\u308b\u624b\u8853\u30fb\u30ea\u30cf\u30d3\u30ea<\/li>\n\n\n\n<li><strong>\u795e\u7d4c\u5185\u79d1\u7684\u5bfe\u5fdc\uff1a<\/strong>\u3066\u3093\u304b\u3093\u3078\u306e\u6297\u3066\u3093\u304b\u3093\u85ac\u3001\u904b\u52d5\u7642\u6cd5<\/li>\n\n\n\n<li><strong>\u547c\u5438\u7ba1\u7406\uff1a<\/strong>\u611f\u67d3\u4e88\u9632\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u305f\u9178\u7d20\u6295\u4e0e\u3084\u4eba\u5de5\u547c\u5438<\/li>\n\n\n\n<li><strong>\u6804\u990a\u7ba1\u7406\uff1a<\/strong>\u6388\u4e73\u56f0\u96e3\u3084\u6210\u9577\u969c\u5bb3\u3078\u306e\u30b5\u30dd\u30fc\u30c8<\/li>\n\n\n\n<li><strong>\u5fc3\u7406\u30fb\u884c\u52d5\u652f\u63f4\uff1a<\/strong>\u767a\u9054\u306e\u7279\u6027\u306b\u5fdc\u3058\u305f\u7642\u80b2\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u305f\u85ac\u7269\u7642\u6cd5<\/li>\n<\/ul>\n\n\n\n<p>\u8a3a\u65ad\u3092\u53d7\u3051\u305f\u3054\u5bb6\u65cf\u304c\u6700\u521d\u306b\u53d6\u308a\u7d44\u3081\u308b\u3053\u3068\u3092\u30013\u3064\u306e\u30b9\u30c6\u30c3\u30d7\u306b\u6574\u7406\u3057\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li>\u773c\u79d1\u30fb\u6574\u5f62\u5916\u79d1\u30fb\u795e\u7d4c\u5185\u79d1\u30fb\u547c\u5438\u5668\u79d1\u306a\u3069\u3001\u5fc5\u8981\u306a\u5c02\u9580\u79d1\u3092\u4e3b\u6cbb\u533b\u3068\u4e00\u7dd2\u306b\u6d17\u3044\u51fa\u3059\u3002<\/li>\n\n\n\n<li>\u81e8\u5e8a\u907a\u4f1d\u5c02\u9580\u533b\u306b\u3088\u308b\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3092\u4e88\u7d04\u3057\u3001\u907a\u4f1d\u5f62\u5f0f\u3084\u6b21\u5b50\u3078\u306e\u5f71\u97ff\u306b\u3064\u3044\u3066\u8aac\u660e\u3092\u53d7\u3051\u308b\u3002<\/li>\n\n\n\n<li>\u304a\u4f4f\u307e\u3044\u306e\u81ea\u6cbb\u4f53\u306e\u7a93\u53e3\u3067\u3001\u6307\u5b9a\u96e3\u75c5\u30fb\u5c0f\u5150\u6162\u6027\u7279\u5b9a\u75be\u75c5\u306e\u533b\u7642\u8cbb\u52a9\u6210\u5236\u5ea6\u3092\u78ba\u8a8d\u3059\u308b\u3002<\/li>\n<\/ol>\n\n\n\n<p>\u307e\u305f\u3001\u5c06\u6765\u7684\u306a\u598a\u5a20\u306b\u5411\u3051\u305f\u9078\u629e\u80a2\u3092\u77e5\u3063\u3066\u304a\u304f\u3053\u3068\u3082\u3001\u3054\u5bb6\u65cf\u306e\u5b89\u5fc3\u306b\u3064\u306a\u304c\u308a\u307e\u3059\u3002\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3092\u901a\u3058\u305f\u60c5\u5831\u63d0\u4f9b\u3092\u8a66\u3057\u3066\u307f\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/leber-congenital-amaurosis-type-cep290-lca10\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">CEP290\u95a2\u9023Leber\u5148\u5929\u9ed2\u5185\u969c\uff08LCA10\uff09\u3010CEP290\u3011 <\/div>\n          <div class=\"blog-card-excerpt\">Leber\u5148\u5929\u9ed2\u5185\u969c10\u578b\uff08LCA10\uff09\u306f\u3001CEP290\u907a\u4f1d\u5b50\u306e\u7570\u5e38\u306b\u3088\u3063\u3066\u751f\u307e\u308c\u3064\u304d\u8996\u529b\u304c\u5f31\u304f\u306a\u308b\u75c5\u6c17\u3067\u3059\u3002\u75c7\u72b6\u3001\u539f\u56e0\u3001\u8a3a\u65ad\u3001\u6cbb\u7642\u306e\u6700\u65b0\u60c5...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"8_%E4%BA%88%E5%BE%8C%EF%BD%9C%E7%B5%8C%E9%81%8E%E3%81%AB%E3%81%AF%E5%B9%85%E3%81%8C%E3%81%82%E3%82%8B\"><\/span><strong>8. \u4e88\u5f8c\uff5c\u7d4c\u904e\u306b\u306f\u5e45\u304c\u3042\u308b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u5178\u578b\u7684(\u91cd\u75c7\u578b)\u306eRCDP3\u3067\u306f\u3001\u591a\u304f\u306e\u304a\u5b50\u3055\u3093\u304c\u4e73\u5e7c\u5150\u671f\u304b\u3089\u5b66\u7ae5\u671f\u306b\u304b\u3051\u3066\u91cd\u5ea6\u306e\u547c\u5438\u5668\u5408\u4f75\u75c7\u3092\u7d4c\u9a13\u3057\u300110\u6b73\u307e\u3067\u306b\u4ea1\u304f\u306a\u308b\u4f8b\u304c\u591a\u3044\u3053\u3068\u304c\u533b\u5b66\u6587\u732e\u3067\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4e00\u65b9\u3001\u8efd\u5ea6\u306e\u5909\u7570\u3084\u30d7\u30e9\u30b9\u30de\u30ed\u30fc\u30b2\u30f3\u304c\u3042\u308b\u7a0b\u5ea6\u6b8b\u308b\u975e\u5178\u578b\u4f8b\u3067\u306f\u3001\u6210\u4eba\u671f\u307e\u3067\u306e\u751f\u5b58\u3084\u3001\u81ea\u529b\u6b69\u884c\u30fb\u8a00\u8449\u306b\u3088\u308b\u3084\u308a\u53d6\u308a\u304c\u53ef\u80fd\u306a\u4f8b\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u8840\u4e2d\u30d7\u30e9\u30b9\u30de\u30ed\u30fc\u30b2\u30f3\u6fc3\u5ea6\u3068\u91cd\u75c7\u5ea6\u306f\u5fc5\u305a\u3057\u3082\u6bd4\u4f8b\u305b\u305a\u3001\u4ed6\u306e\u907a\u4f1d\u7684\u30fb\u74b0\u5883\u7684\u306a\u8981\u56e0\u3082\u5f71\u97ff\u3057\u3066\u3044\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6570\u5b57\u3060\u3051\u3092\u898b\u308b\u3068\u53b3\u3057\u3044\u73fe\u5b9f\u306b\u601d\u3048\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002\u5b9f\u969b\u306e\u7d4c\u904e\u306f\u4e00\u4eba\u3072\u3068\u308a\u7570\u306a\u308b\u305f\u3081\u3001\u62c5\u5f53\u533b\u3068\u3068\u3082\u306b\u3001\u305d\u306e\u304a\u5b50\u3055\u3093\u306b\u5408\u3063\u305f\u30b1\u30a2\u306e\u8a08\u753b\u3092\u4e00\u7dd2\u306b\u8003\u3048\u3066\u3044\u304f\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"9_%E3%81%94%E5%AE%B6%E6%97%8F%E3%81%B8%EF%BD%9C%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%A8%E5%BF%83%E3%81%AE%E3%82%B1%E3%82%A2\"><\/span><strong>9. \u3054\u5bb6\u65cf\u3078\uff5c\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3068\u5fc3\u306e\u30b1\u30a2<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u6975\u3081\u3066\u5e0c\u5c11\u306a\u75be\u60a3\u3060\u304b\u3089\u3053\u305d\u3001\u6b63\u78ba\u306a\u60c5\u5831\u3068\u76f8\u8ac7\u3067\u304d\u308b\u76f8\u624b\u3092\u6301\u3064\u3053\u3068\u304c\u3001\u3054\u5bb6\u65cf\u306e\u652f\u3048\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8a3a\u5bdf\u5ba4\u3067\u306f\u300c\u81ea\u5206\u305f\u3061\u306e\u4f55\u304c\u3044\u3051\u306a\u304b\u3063\u305f\u306e\u304b\u300d\u3068\u3001\u3054\u81ea\u8eab\u3092\u8cac\u3081\u308b\u8a00\u8449\u3092\u805e\u304f\u3053\u3068\u304c\u5c11\u306a\u304f\u3042\u308a\u307e\u305b\u3093\u3002RCDP3\u306f\u4e21\u89aa\u53cc\u65b9\u304c\u5076\u7136AGPS\u907a\u4f1d\u5b50\u306e\u5909\u7570\u30921\u3064\u305a\u3064\u6301\u3063\u3066\u3044\u305f\u5834\u5408\u306b\u8d77\u3053\u308b\u3082\u306e\u3067\u3042\u308a\u3001\u751f\u6d3b\u7fd2\u6163\u3084\u884c\u52d5\u304c\u539f\u56e0\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u79c1\u81ea\u8eab\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u5834\u3067\u3001\u78ba\u5b9a\u8a3a\u65ad\u306e\u76f4\u5f8c\u306f\u8a00\u8449\u5c11\u306a\u3060\u3063\u305f\u3054\u5bb6\u65cf\u304c\u3001\u56de\u3092\u91cd\u306d\u308b\u3046\u3061\u306b\u6b21\u306e\u598a\u5a20\u3084\u4eca\u5f8c\u306e\u30b1\u30a2\u306b\u3064\u3044\u3066\u5177\u4f53\u7684\u306a\u8cea\u554f\u3092\u3055\u308c\u308b\u3088\u3046\u306b\u306a\u308b\u904e\u7a0b\u3092\u3001\u4f55\u5ea6\u3082\u898b\u3066\u304d\u307e\u3057\u305f\u3002\u6642\u9593\u3092\u304b\u3051\u3066\u60c5\u5831\u3092\u6574\u7406\u3057\u3066\u3044\u304f\u3053\u3068\u304c\u3001\u524d\u306b\u9032\u3080\u529b\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3054\u5bb6\u65cf\u3060\u3051\u3067\u62b1\u3048\u8fbc\u307e\u305a\u3001\u81e8\u5e8a\u907a\u4f1d\u5c02\u9580\u533b\u3084\u5c0f\u5150\u79d1\u533b\u3001\u60a3\u8005\u4f1a\u306a\u3069\u306e\u652f\u63f4\u30cd\u30c3\u30c8\u30ef\u30fc\u30af\u3092\u983c\u3063\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n<!--nipt_mono-->\r\n<div class=\"nipt-mono\">\r\n    <div class=\"nipt-mono-btn\">\r\n        <a href=\"\/nipt\/nipt-mono\/\">\r\n            <img decoding=\"async\" loading=\"lazy\" src=\"\/nipt\/wp-content\/uploads\/2026\/03\/NIPT-MONO.webp\" alt=\"NIPT-MONO\u3067\u8abf\u3079\u3089\u308c\u307e\u3059\">\r\n         <\/a>\r\n    <\/div>\r\n<\/div>\r\n\r\n<style>\r\n.nipt-mono {\r\n    text-align: center; \/* \u89aa\u8981\u7d20\u3067\u6a2a\u4e2d\u592e *\/\r\n}\r\n.nipt-mono a img {\r\n    display: inline-block; \/* \u753b\u50cf\u3092\u30a4\u30f3\u30e9\u30a4\u30f3\u30d6\u30ed\u30c3\u30af\u5316\u3057\u3066 text-align \u306b\u53cd\u6620 *\/\r\n    width: 333px;\r\n}\r\n<\/style>\r\n<!--\/nipt_mono-->\r\n\r\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%BE%E3%81%A8%E3%82%81%EF%BD%9C%E6%AD%A3%E3%81%97%E3%81%84%E7%90%86%E8%A7%A3%E3%81%8C%E6%AC%A1%E3%81%AE%E4%B8%80%E6%AD%A9%E3%81%AB%E3%81%A4%E3%81%AA%E3%81%8C%E3%82%8B\"><\/span><strong>\u307e\u3068\u3081\uff5c\u6b63\u3057\u3044\u7406\u89e3\u304c\u6b21\u306e\u4e00\u6b69\u306b\u3064\u306a\u304c\u308b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>RCDP3\u306f\u3001AGPS\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u30d7\u30e9\u30b9\u30de\u30ed\u30fc\u30b2\u30f3\u5408\u6210\u304c\u6b62\u307e\u308b\u3053\u3068\u3067\u8d77\u3053\u308b\u3001\u6975\u3081\u3066\u307e\u308c\u306a\u30da\u30eb\u30aa\u30ad\u30b7\u30bd\u30fc\u30e0\u75c5\u3067\u3059\u3002\u539f\u56e0\u907a\u4f1d\u5b50\u306f1\u578b\u306ePEX7\u30fb2\u578b\u306eGNPAT\u3068\u306f\u5225\u7269\u3002\u6df7\u540c\u3092\u907f\u3051\u308b\u3053\u3068\u304c\u3001\u6b63\u78ba\u306a\u60c5\u5831\u53ce\u96c6\u306e\u7b2c\u4e00\u6b69\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u75c7\u72b6\u306e\u91cd\u3055\u306b\u306f\u5e45\u304c\u3042\u308a\u3001\u5178\u578b\u4f8b\u3068\u8efd\u75c7\u578b\u3068\u3067\u7d4c\u904e\u304c\u5927\u304d\u304f\u7570\u306a\u308a\u307e\u3059\u3002\u6a19\u6e96\u7684\u306aNIPT\u3092\u542b\u3080\u51fa\u751f\u524d\u691c\u67fb\u306f\u3001\u3042\u304f\u307e\u3067\u975e\u78ba\u5b9a\u7684\u306a\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3067\u3042\u308a\u3001\u78ba\u5b9a\u8a3a\u65ad\u306b\u306f\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u304c\u6b20\u304b\u305b\u307e\u305b\u3093\u3002\u6b63\u78ba\u306a\u60c5\u5831\u3092\u3082\u3068\u306b\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3092\u53d7\u3051\u306a\u304c\u3089\u6b21\u306e\u4e00\u6b69\u3092\u691c\u8a0e\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<p>\u672c\u8a18\u4e8b\u306f\u4e00\u822c\u7684\u306a\u533b\u5b66\u60c5\u5831\u306e\u63d0\u4f9b\u3092\u76ee\u7684\u3068\u3057\u305f\u3082\u306e\u3067\u3042\u308a\u3001\u500b\u5225\u306e\u8a3a\u65ad\u30fb\u6cbb\u7642\u65b9\u91dd\u306f\u5fc5\u305a\u4e3b\u6cbb\u533b\u30fb\u81e8\u5e8a\u907a\u4f1d\u5c02\u9580\u533b\u306b\u3054\u76f8\u8ac7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%82%88%E3%81%8F%E3%81%82%E3%82%8B%E8%B3%AA%E5%95%8FFAQ\"><\/span><strong>\u3088\u304f\u3042\u308b\u8cea\u554f(FAQ)<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>RCDP3\u306b\u3064\u3044\u3066\u3001\u8a3a\u5bdf\u3084\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u5834\u3067\u3088\u304f\u5bc4\u305b\u3089\u308c\u308b\u8cea\u554f\u3092\u307e\u3068\u3081\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"RCDP3%E3%81%A8RCDP1%E3%83%BBRCDP2%E3%81%AF%E4%BD%95%E3%81%8C%E9%81%95%E3%81%84%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span>RCDP3\u3068RCDP1\u30fbRCDP2\u306f\u4f55\u304c\u9055\u3044\u307e\u3059\u304b\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u539f\u56e0\u907a\u4f1d\u5b50\u306e\u9055\u3044\u3067\u3059\u3002RCDP1\u306fPEX7\u907a\u4f1d\u5b50\u3001RCDP2\u306fGNPAT\u907a\u4f1d\u5b50\u3001RCDP3\u306fAGPS\u907a\u4f1d\u5b50\u306e\u5909\u7570\u304c\u539f\u56e0\u3067\u3001\u3044\u305a\u308c\u3082\u30d7\u30e9\u30b9\u30de\u30ed\u30fc\u30b2\u30f3\u5408\u6210\u306e\u969c\u5bb3\u3068\u3044\u3046\u70b9\u306f\u5171\u901a\u3057\u3066\u3044\u307e\u3059\u3002\u81e8\u5e8a\u75c7\u72b6\u306f\u91cd\u306a\u308b\u90e8\u5206\u304c\u591a\u304f\u3001\u907a\u4f1d\u5b50\u691c\u67fb\u3067\u3057\u304b\u533a\u5225\u3067\u304d\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"AGPS%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AB%E5%A4%89%E7%95%B0%E3%81%8C%E8%A6%8B%E3%81%A4%E3%81%8B%E3%82%8C%E3%81%B0%E5%BF%85%E3%81%9ARCDP3%E3%81%A8%E8%A8%BA%E6%96%AD%E3%81%95%E3%82%8C%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span>AGPS\u907a\u4f1d\u5b50\u306b\u5909\u7570\u304c\u898b\u3064\u304b\u308c\u3070\u5fc5\u305aRCDP3\u3068\u8a3a\u65ad\u3055\u308c\u307e\u3059\u304b\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3044\u3044\u3048\u3001\u4e00\u81f4\u3059\u308b\u3068\u306f\u9650\u308a\u307e\u305b\u3093\u3002\u5909\u7570\u306e\u90e8\u4f4d\u3084\u7a2e\u985e\u306b\u3088\u3063\u3066\u75c5\u7684\u610f\u7fa9\u304c\u7570\u306a\u308a\u3001\u300c\u610f\u7fa9\u4e0d\u660e\u306a\u5909\u7570(VUS)\u300d\u3068\u5224\u5b9a\u3055\u308c\u308b\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002\u8a3a\u65ad\u306f\u81e8\u5e8a\u75c7\u72b6\u3068\u751f\u5316\u5b66\u7684\u691c\u67fb\u3001\u907a\u4f1d\u5b50\u691c\u67fb\u7d50\u679c\u3092\u7dcf\u5408\u3057\u3066\u81e8\u5e8a\u907a\u4f1d\u5c02\u9580\u533b\u304c\u5224\u65ad\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%87%BA%E7%94%9F%E5%89%8D%E6%A4%9C%E6%9F%BBNIPT%E3%81%A7RCDP3%E3%81%AF%E3%82%8F%E3%81%8B%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span>\u51fa\u751f\u524d\u691c\u67fb(NIPT)\u3067RCDP3\u306f\u308f\u304b\u308a\u307e\u3059\u304b\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6a19\u6e96\u7684\u306aNIPT\u306f13\u30fb18\u30fb21\u30c8\u30ea\u30bd\u30df\u30fc\u306a\u3069\u67d3\u8272\u4f53\u6570\u306e\u7570\u5e38\u3092\u5bfe\u8c61\u3068\u3057\u3066\u304a\u308a\u3001RCDP3\u306e\u539f\u56e0\u3068\u306a\u308bAGPS\u907a\u4f1d\u5b50\u306e\u70b9\u5909\u7570\u306f\u691c\u51fa\u5bfe\u8c61\u306b\u542b\u307e\u308c\u307e\u305b\u3093\u3002\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u307e\u3067\u5bfe\u8c61\u306b\u3057\u305f\u62e1\u5f35\u691c\u67fb\u3082\u975e\u78ba\u5b9a\u7684\u306a\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3067\u3042\u308b\u305f\u3081\u3001\u78ba\u5b9a\u306b\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chorionic-villus-test\/\">\u7d68\u6bdb\u691c\u67fb<\/a>\u306b\u3088\u308b\u907a\u4f1d\u5b50\u89e3\u6790\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%AC%A1%E3%81%AE%E5%A6%8A%E5%A8%A0%E3%81%A7%E3%82%82%E5%90%8C%E3%81%98%E7%97%85%E6%B0%97%E3%81%AB%E3%81%AA%E3%82%8B%E7%A2%BA%E7%8E%87%E3%81%AF%E3%81%82%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span>\u6b21\u306e\u598a\u5a20\u3067\u3082\u540c\u3058\u75c5\u6c17\u306b\u306a\u308b\u78ba\u7387\u306f\u3042\u308a\u307e\u3059\u304b\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3054\u4e21\u89aa\u304c\u3068\u3082\u306bAGPS\u907a\u4f1d\u5b50\u5909\u7570\u306e\u4fdd\u56e0\u8005\u3067\u3042\u308b\u5834\u5408\u3001\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u306e\u539f\u5247\u306b\u3082\u3068\u3065\u304d\u3001\u6b21\u306e\u304a\u5b50\u3055\u3093\u30821\/4\u306e\u78ba\u7387\u3067\u767a\u75c7\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002\u6b63\u78ba\u306a\u518d\u767a\u7387\u3084\u691c\u67fb\u306e\u9078\u629e\u80a2\u306f\u3001\u81e8\u5e8a\u907a\u4f1d\u5c02\u9580\u533b\u306b\u3088\u308b\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u78ba\u8a8d\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%8C%BB%E7%99%82%E8%B2%BB%E5%8A%A9%E6%88%90%E3%81%AE%E5%AF%BE%E8%B1%A1%E3%81%AB%E3%81%AA%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span>\u533b\u7642\u8cbb\u52a9\u6210\u306e\u5bfe\u8c61\u306b\u306a\u308a\u307e\u3059\u304b\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u56fd\u5185\u3067\u306f\u3001RCDP2\u30fb3\u3092\u542b\u3080\u30da\u30eb\u30aa\u30ad\u30b7\u30bd\u30fc\u30e0\u75c5\u304c<a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4622\" target=\"_blank\" rel=\"noopener\">\u96e3\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc\u300c\u30da\u30eb\u30aa\u30ad\u30b7\u30bd\u30fc\u30e0\u75c5(\u526f\u814e\u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u3092\u9664\u304f)(\u6307\u5b9a\u96e3\u75c5234)\u300d<\/a>\u306e\u5bfe\u8c61\u75be\u60a3\u306b\u542b\u307e\u308c\u3066\u3044\u307e\u3059\u3002\u5c0f\u5150\u306e\u5834\u5408\u306f\u5c0f\u5150\u6162\u6027\u7279\u5b9a\u75be\u75c5\u5236\u5ea6\u304c\u9069\u7528\u3055\u308c\u308b\u3053\u3068\u3082\u3042\u308b\u305f\u3081\u3001\u7533\u8acb\u306e\u53ef\u5426\u3084\u624b\u7d9a\u304d\u306f\u304a\u4f4f\u307e\u3044\u306e\u81ea\u6cbb\u4f53\u7a93\u53e3\u3084\u4e3b\u6cbb\u533b\u306b\u3054\u78ba\u8a8d\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%8D%E3%82%87%E3%81%86%E3%81%A0%E3%81%84%E3%82%84%E8%A6%AA%E6%88%9A%E3%81%AE%E9%81%BA%E4%BC%9D%E5%AD%90%E6%A4%9C%E6%9F%BB%E3%81%AF%E5%BF%85%E8%A6%81%E3%81%A7%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span>\u304d\u3087\u3046\u3060\u3044\u3084\u89aa\u621a\u306e\u907a\u4f1d\u5b50\u691c\u67fb\u306f\u5fc5\u8981\u3067\u3059\u304b\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u72b6\u6cc1\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u307e\u3059\u3002\u3054\u4e21\u89aa\u306e\u4fdd\u56e0\u8005\u691c\u67fb\u306f\u6b21\u5b50\u306e\u8a08\u753b\u306b\u5f79\u7acb\u3061\u307e\u3059\u304c\u3001\u304d\u3087\u3046\u3060\u3044\u3084\u89aa\u621a\u3078\u306e\u691c\u67fb\u3092\u4e00\u5f8b\u306b\u3059\u3059\u3081\u308b\u3082\u306e\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u5bb6\u7cfb\u5185\u3067\u306e\u691c\u67fb\u5bfe\u8c61\u3084\u7bc4\u56f2\u306f\u3001\u81e8\u5e8a\u907a\u4f1d\u5c02\u9580\u533b\u3068\u76f8\u8ac7\u3057\u306a\u304c\u3089\u6c7a\u3081\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<div class=\"wp-block-group author-box\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%9B%A3%E4%BF%AE%E8%80%85%E6%83%85%E5%A0%B1\"><\/span><strong>\u76e3\u4fee\u8005\u60c5\u5831<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p><strong>\u5ca1 \u535a\u53f2(\u304a\u304b \u3072\u308d\u3057)<\/strong><br\/>\u533b\u7642\u6cd5\u4eba\u793e\u56e3\u798f\u7f8e\u4f1a \u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u7d71\u62ec\u9662\u9577\uff0fLabo Director(\u30e9\u30dc\u30c7\u30a3\u30ec\u30af\u30bf\u30fc)<br\/>\u5ca1\u5c71\u770c\u51fa\u8eab\u3002\u6176\u61c9\u7fa9\u587e\u5927\u5b66\u533b\u5b66\u90e8\u5352\u696d\u5f8c\u3001\u65e5\u672c\u3068\u30a2\u30e1\u30ea\u30ab\u306e\u533b\u5e2b\u56fd\u5bb6\u8a66\u9a13\u306b\u5408\u683c\u3002\u81e8\u5e8a\u7814\u4fee\u5f8c2\u5e74\u3067\u533b\u5b66\u535a\u58eb\u3092\u53d6\u5f97\u3002\u65e5\u672c\u306b\u7d0420\u4eba\u307b\u3069\u3057\u304b\u3044\u306a\u3044\u30e9\u30dc\u30c7\u30a3\u30ec\u30af\u30bf\u30fc\u8cc7\u683c\u3092\u4fdd\u6709\u3057\u3066\u3044\u307e\u3059\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/obgyn\/\">\u7523\u5a66\u4eba\u79d1<\/a>\u5c02\u9580\u533b\u30fb\u5c0f\u5150\u79d1\u5c02\u9580\u533b\u30fb\u81e8\u5e8a\u907a\u4f1d\u5c02\u9580\u533b\u3068\u9023\u643a\u3057\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u4f53\u5236\u306e\u3082\u3068\u3067NIPT\u3092\u542b\u3080\u51fa\u751f\u524d\u691c\u67fb\u3092\u63d0\u4f9b\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n<\/div><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%BC%95%E7%94%A8%E6%96%87%E7%8C%AE%EF%BD%9CReferences\"><\/span>\u5f15\u7528\u6587\u732e\uff5cReferences<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/doi.org\/10.7759\/cureus.20543\">Shawli, Aiman M., et al. \u2018A Novel Variant in the AGPS Gene Causes the Rare Rhizomelic Chondrodysplasia Punctata Type 3: A Case Report\u2019. <em>Cureus<\/em>, Dec. 2021. <em>DOI.org (Crossref)<\/em>, https:\/\/doi.org\/10.7759\/cureus.20543.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1002\/jimd.12349\">Fallatah, Wedad, et al. \u2018Clinical, Biochemical, and Molecular Characterization of Mild (Nonclassic) Rhizomelic Chondrodysplasia Punctata\u2019. <em>Journal of Inherited Metabolic Disease<\/em>, vol. 44, no. 4, July 2021, pp. 1021\u201338. <em>DOI.org (Crossref)<\/em>, https:\/\/doi.org\/10.1002\/jimd.12349.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1002\/humu.21623\">Itzkovitz, Brandon, et al. \u2018Functional Characterization of Novel Mutations in GNPAT and AGPS, Causing Rhizomelic Chondrodysplasia Punctata (RCDP) Types 2 and 3\u2019. <em>Human Mutation<\/em>, vol. 33, no. 1, Jan. 2012, pp. 189\u201397. <em>DOI.org (Crossref)<\/em>, https:\/\/doi.org\/10.1002\/humu.21623.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1186\/s13023-021-01889-z\">Luisman, T., Smith, T., Ritchie, S. <em>et al.<\/em> Genetic epidemiology approach to estimating birth incidence and current disease prevalence for rhizomelic chondrodysplasia punctata. <em>Orphanet J Rare Dis<\/em> <strong>16<\/strong>, 300 (2021). https:\/\/doi.org\/10.1186\/s13023-021-01889-z<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.orpha.net\/en\/disease\/detail\/309803\" target=\"_blank\" rel=\"noopener nofollow\">Orphanet\u300cRhizomelic chondrodysplasia punctata type 3\u300d(ORPHA:309803)<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4622\" target=\"_blank\" rel=\"noopener nofollow\">\u96e3\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc\u300c\u30da\u30eb\u30aa\u30ad\u30b7\u30bd\u30fc\u30e0\u75c5(\u526f\u814e\u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u3092\u9664\u304f)(\u6307\u5b9a\u96e3\u75c5234)\u300d<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC4151185\/\" target=\"_blank\" rel=\"noopener nofollow\">Goldfischer, S. et al. \u2018Alkylglycerone phosphate synthase (AGPS) deficient mice: Models for rhizomelic chondrodysplasia punctata type 3 (RCDP3) malformation syndrome\u2019, PMC4151185<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/39460617\/\">Perez G, Barber GP, Benet-Pages A, et al. The UCSC Genome Browser database: 2025 update. Nucleic Acids Res. 2025 Jan 6;53(D1):D1243-D1249. doi: 10.1093\/nar\/gkae974. PMID: 39460617; PMCID: PMC11701590.<\/a><\/li>\n<\/ul>\n\n\n\n<p class=\"has-text-align-center\"><sup><sup>\u30ea\u30be\u30e1\u30ea\u30c3\u30af\u8edf\u9aa8\u7570\u5f62\u6210\u70b9\u72b6\u75c7, RCDP3, AGPS\u6b20\u640d\u75c7, \u30d7\u30e9\u30b9\u30de\u30ed\u30fc\u30b2\u30f3\u6b20\u640d, \u30da\u30eb\u30aa\u30ad\u30b7\u30bd\u30fc\u30e0\u75c5, \u9aa8\u5f62\u6210\u7570\u5e38, \u767d\u5185\u969c, \u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d, \u8102\u8cea\u4ee3\u8b1d\u7570\u5e38, \u70b9\u72b6\u9aa8\u7aef\u7570\u5f62\u6210, <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>, \u767a\u9054\u9045\u6ede, \u547c\u5438\u969c\u5bb3, \u795e\u7d4c\u767a\u9054\u969c\u5bb3, \u907a\u4f1d\u5b50\u8a3a\u65ad, \u51fa\u751f\u524d\u691c\u67fb, <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>, \u652f\u63f4\u7684\u7642\u6cd5<\/sup><\/sup><\/p>\n\n\n\n<!-- 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