{"id":122545,"date":"2026-01-14T10:50:23","date_gmt":"2026-01-14T01:50:23","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=122545"},"modified":"2026-07-08T22:35:37","modified_gmt":"2026-07-08T13:35:37","slug":"bent-bone-dysplasia-syndrome-fgfr2-symptoms-diagnosis","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/bent-bone-dysplasia-syndrome-fgfr2-symptoms-diagnosis\/","title":{"rendered":"Bent Bone Dysplasia Syndrome"},"content":{"rendered":"\n<div style=\"border:solid #ffe6e6 0.8rem;background-color: #fff9f9;padding:3% 5%;margin:1rem 0 3rem;\"><h2 style=\"margin-top:1rem;\">\u3053\u306e\u8a18\u4e8b\u306e\u307e\u3068\u3081<\/h2><p><strong>\u30d9\u30f3\u30c8\u30dc\u30fc\u30f3\u9aa8\u7570\u5f62\u6210\u75c7\uff08Bent Bone Dysplasia syndrome\u3001BBDS\uff09\u306f\u3001FGFR2\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u5168\u8eab\u306e\u9577\u7ba1\u9aa8\u304c\u5f13\u306a\u308a\u306b\u5f37\u304f\u5f2f\u66f2\u3059\u308b\u3001\u304d\u308f\u3081\u3066\u307e\u308c\u306a\u5148\u5929\u6027\u306e\u9aa8\u7cfb\u7d71\u75be\u60a3\u3067\u3059\u3002<\/strong>\u30af\u30eb\u30fc\u30be\u30f3\u75c7\u5019\u7fa4\u3084\u30a2\u30da\u30fc\u30eb\u75c7\u5019\u7fa4\u3068\u540c\u3058FGFR2\u907a\u4f1d\u5b50\u304c\u539f\u56e0\u3067\u3059\u304c\u3001\u5909\u7570\u304c\u8d77\u3053\u308b\u90e8\u4f4d\u304c\u7570\u306a\u308b\u70b9\u306b\u7279\u5fb4\u304c\u3042\u308a\u307e\u3059\u3002\u591a\u304f\u306f\u5468\u7523\u671f\u3084\u65b0\u751f\u5150\u671f\u306b\u53b3\u3057\u3044\u7d4c\u904e\u3092\u305f\u3069\u308b\u81f4\u6b7b\u6027\u9aa8\u7570\u5f62\u6210\u75c7\u306e\u4e00\u3064\u3067\u3001\u9577\u7ba1\u9aa8\u306e\u5f2f\u66f2\u3084\u30af\u30ed\u30fc\u30d0\u30fc\u8449\u982d\u84cb\u306a\u3069\u306e\u6240\u898b\u304c\u51fa\u751f\u524d\u5f8c\u306b\u307f\u3089\u308c\u307e\u3059\u3002BBDS\u306f\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u3067\u3042\u308b\u305f\u3081\u3001NIPT\u306e\u3088\u3046\u306a\u67d3\u8272\u4f53\u3092\u5bfe\u8c61\u3068\u3057\u305f\u975e\u78ba\u5b9a\u7684\u691c\u67fb\u3067\u306f\u4e00\u822c\u306b\u5bfe\u8c61\u5916\u3068\u306a\u308a\u3001\u78ba\u5b9a\u8a3a\u65ad\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\u5c02\u9580\u7684\u306a\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u304c\u5fc5\u8981\u3067\u3059\u3002\u4e8b\u5b9f\u3092\u8aa0\u5b9f\u306b\u53d7\u3051\u6b62\u3081\u306a\u304c\u3089\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3092\u901a\u3058\u3066\u3054\u5bb6\u65cf\u306b\u5408\u3063\u305f\u9078\u629e\u80a2\u3092\u8003\u3048\u3066\u3044\u304d\u307e\u3057\u3087\u3046\u3002<\/p><\/div>\n\n\n\n<div style=\"border:1px solid #e8608a;border-radius:8px;background:#fff5f8;padding:4% 5%;margin:1rem 0 2.5rem;\">\n<p style=\"font-weight:bold;font-size:1.05em;margin-top:0;\">\u3053\u306e\u8a18\u4e8b\u3067\u308f\u304b\u308b\u3053\u3068<\/p>\n<ul style=\"margin-bottom:0;\">\n<li>\u30d9\u30f3\u30c8\u30dc\u30fc\u30f3\u9aa8\u7570\u5f62\u6210\u75c7\uff08BBDS\uff09\u3068\u306f\u4f55\u304b\u3001FGFR2\u907a\u4f1d\u5b50\u3068\u3069\u3046\u95a2\u308f\u308b\u306e\u304b<\/li>\n<li>\u9577\u7ba1\u9aa8\u306e\u5f2f\u66f2\u3084\u30af\u30ed\u30fc\u30d0\u30fc\u8449\u982d\u84cb\u306a\u3069\u3001\u51fa\u751f\u524d\u5f8c\u306b\u307f\u3089\u308c\u308b\u7279\u5fb4\u7684\u306a\u6240\u898b<\/li>\n<li>\u30a2\u30da\u30fc\u30eb\u75c7\u5019\u7fa4\u30fb\u30af\u30eb\u30fc\u30be\u30f3\u75c7\u5019\u7fa4\u3084\u4ed6\u306e\u9aa8\u7cfb\u7d71\u75be\u60a3\u3068\u306e\u9055\u3044<\/li>\n<li>\u51fa\u751f\u5f8c\u306e\u7d4c\u904e\u3068\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u610f\u7fa9\u3001NIPT\u3067\u306f\u5206\u304b\u3089\u306a\u3044\u3053\u3068<\/li>\n<\/ul>\n<\/div>\n\n\n\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 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/bent-bone-dysplasia-syndrome-fgfr2-symptoms-diagnosis\/#%E3%82%88%E3%81%8F%E3%81%82%E3%82%8B%E8%B3%AA%E5%95%8F\" >\u3088\u304f\u3042\u308b\u8cea\u554f<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-13\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/bent-bone-dysplasia-syndrome-fgfr2-symptoms-diagnosis\/#Q_%E3%83%99%E3%83%B3%E3%83%88%E3%83%9C%E3%83%BC%E3%83%B3%E9%AA%A8%E7%95%B0%E5%BD%A2%E6%88%90%E7%97%87%E3%81%AFNIPT%E3%81%A7%E5%88%86%E3%81%8B%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\" >Q. \u30d9\u30f3\u30c8\u30dc\u30fc\u30f3\u9aa8\u7570\u5f62\u6210\u75c7\u306fNIPT\u3067\u5206\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-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/bent-bone-dysplasia-syndrome-fgfr2-symptoms-diagnosis\/#Q_%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E7%97%87%E7%8A%B6%E3%81%8C%E7%89%B9%E5%BE%B4%E3%81%A7%E3%81%99%E3%81%8B%EF%BC%9F\" >Q. \u3069\u306e\u3088\u3046\u306a\u75c7\u72b6\u304c\u7279\u5fb4\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-15\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/bent-bone-dysplasia-syndrome-fgfr2-symptoms-diagnosis\/#Q_%E3%82%A2%E3%83%9A%E3%83%BC%E3%83%AB%E7%97%87%E5%80%99%E7%BE%A4%E3%82%84%E3%82%AF%E3%83%AB%E3%83%BC%E3%82%BE%E3%83%B3%E7%97%87%E5%80%99%E7%BE%A4%E3%81%A8%E4%BD%95%E3%81%8C%E9%81%95%E3%81%86%E3%81%AE%E3%81%A7%E3%81%99%E3%81%8B%EF%BC%9F\" >Q. \u30a2\u30da\u30fc\u30eb\u75c7\u5019\u7fa4\u3084\u30af\u30eb\u30fc\u30be\u30f3\u75c7\u5019\u7fa4\u3068\u4f55\u304c\u9055\u3046\u306e\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-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/bent-bone-dysplasia-syndrome-fgfr2-symptoms-diagnosis\/#Q_%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%96%BE%E6%82%A3%E3%81%8C%E8%B5%B7%E3%81%93%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\" >Q. \u6b21\u306e\u598a\u5a20\u3067\u3082\u540c\u3058\u75be\u60a3\u304c\u8d77\u3053\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-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/bent-bone-dysplasia-syndrome-fgfr2-symptoms-diagnosis\/#Q_%E7%A2%BA%E5%AE%9A%E8%A8%BA%E6%96%AD%E3%81%AF%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AB%E8%A1%8C%E3%81%84%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\" >Q. \u78ba\u5b9a\u8a3a\u65ad\u306f\u3069\u306e\u3088\u3046\u306b\u884c\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\/bent-bone-dysplasia-syndrome-fgfr2-symptoms-diagnosis\/#Q_%E5%87%BA%E7%94%9F%E5%89%8D%E3%81%AB%E8%A6%8B%E3%81%A4%E3%81%8B%E3%81%A3%E3%81%9F%E5%A0%B4%E5%90%88%E3%80%81%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AB%E7%9B%B8%E8%AB%87%E3%82%92%E9%80%B2%E3%82%81%E3%82%8C%E3%81%B0%E3%82%88%E3%81%84%E3%81%A7%E3%81%99%E3%81%8B%EF%BC%9F\" >Q. \u51fa\u751f\u524d\u306b\u898b\u3064\u304b\u3063\u305f\u5834\u5408\u3001\u3069\u306e\u3088\u3046\u306b\u76f8\u8ac7\u3092\u9032\u3081\u308c\u3070\u3088\u3044\u3067\u3059\u304b\uff1f<\/a><\/li><\/ul><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%83%99%E3%83%B3%E3%83%88%E3%83%9C%E3%83%BC%E3%83%B3%E9%AA%A8%E7%95%B0%E5%BD%A2%E6%88%90%E7%97%87%EF%BC%88BBDS%EF%BC%89%E3%81%A8%E3%81%AF%EF%BD%9CFGFR2%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%A8%E9%AA%A8%E3%81%AE%E5%BC%AF%E6%9B%B2\"><\/span>\u30d9\u30f3\u30c8\u30dc\u30fc\u30f3\u9aa8\u7570\u5f62\u6210\u75c7\uff08BBDS\uff09\u3068\u306f\uff5cFGFR2\u907a\u4f1d\u5b50\u3068\u9aa8\u306e\u5f2f\u66f2<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u30d9\u30f3\u30c8\u30dc\u30fc\u30f3\u9aa8\u7570\u5f62\u6210\u75c7\u306f\u3001\u5927\u817f\u9aa8\u3084\u811b\u9aa8\u3068\u3044\u3063\u305f\u9577\u7ba1\u9aa8\u304c\u5f13\u72b6\u306b\u5f37\u304f\u5f2f\u66f2\u3057\u3066\u751f\u307e\u308c\u3066\u304f\u308b\u3001\u6975\u3081\u3066\u7a00\u306a\u5148\u5929\u6027\u9aa8\u7cfb\u7d71\u75be\u60a3\u3067\u3059\u3002<\/strong>\u305d\u306e\u81e8\u5e8a\u50cf\u306e\u91cd\u3055\u304b\u3089\u3001\u591a\u304f\u306f\u5468\u7523\u671f\u307e\u305f\u306f\u65b0\u751f\u5150\u671f\u306b\u53b3\u3057\u3044\u7d4c\u904e\u3092\u305f\u3069\u308b\u81f4\u6b7b\u6027\u9aa8\u7570\u5f62\u6210\u75c7\u306e\u4e00\u3064\u306b\u6570\u3048\u3089\u308c\u307e\u3059\u3002\u307e\u305a\u306f\u3001\u3053\u306e\u75be\u60a3\u306e\u5168\u4f53\u50cf\u304b\u3089\u898b\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>BBDS\u306f\u3001\u30af\u30ed\u30fc\u30d0\u30fc\u8449\u982d\u84cb\u3084\u9854\u9762\u5f62\u6210\u4e0d\u5168\u3092\u4f34\u3046\u306a\u3069\u3001\u4ed6\u306eFGFR2\u95a2\u9023\u75be\u60a3\u3068\u4e00\u90e8\u306e\u5fb4\u5019\u3092\u5171\u6709\u3057\u307e\u3059\u3002\u305f\u3060\u3057\u9aa8\u306e\u300c\u5f2f\u66f2\u300d\u3068\u3044\u3046\u6240\u898b\u306b\u304a\u3044\u3066\u306f\u3001\u4ed6\u306e\u75be\u60a3\u3068\u4e00\u7dda\u3092\u753b\u3059\u72ec\u81ea\u306e\u4f4d\u7f6e\u3065\u3051\u3067\u3059\u3002\u539f\u56e0\u3068\u306a\u308b<strong>FGFR2\u907a\u4f1d\u5b50<\/strong>\u306f\u3001\u30a2\u30da\u30fc\u30eb\u75c7\u5019\u7fa4\u3084\u30af\u30eb\u30fc\u30be\u30f3\u75c7\u5019\u7fa4\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u3067\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u5909\u7570\u304c\u8d77\u3053\u308b\u90e8\u4f4d\u306e\u9055\u3044\u306b\u3088\u3063\u3066\u73fe\u308c\u65b9\u304c\u5927\u304d\u304f\u5909\u308f\u308a\u307e\u3059\u3002\u3053\u306e\u70b9\u306f\u6b21\u306e\u7ae0\u3067\u8a73\u3057\u304f\u6574\u7406\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u5927\u5207\u306a\u524d\u63d0\u3068\u3057\u3066\u304a\u4f1d\u3048\u3057\u305f\u3044\u306e\u306f\u3001BBDS\u306f\u5358\u4e00\u306e\u907a\u4f1d\u5b50\u5909\u7570\u306b\u3088\u3063\u3066\u8d77\u3053\u308b\u75be\u60a3\u3060\u3068\u3044\u3046\u70b9\u3067\u3059\u3002<\/strong><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>\uff08\u65b0\u578b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\uff09\u306f\u4e3b\u306b13\u30fb18\u30fb21\u30c8\u30ea\u30bd\u30df\u30fc\u306a\u3069\u3001\u67d3\u8272\u4f53\u306e\u6570\u7684\u7570\u5e38\u3092\u8abf\u3079\u308b\u975e\u78ba\u5b9a\u7684\u691c\u67fb\u3067\u3042\u308a\u3001BBDS\u306e\u3088\u3046\u306a\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u306f\u4e00\u822c\u306b\u5bfe\u8c61\u306b\u542b\u307e\u308c\u307e\u305b\u3093\u3002BBDS\u304c\u7591\u308f\u308c\u308b\u3001\u3042\u308b\u3044\u306f\u78ba\u8a8d\u3057\u305f\u3044\u5834\u5408\u306f\u3001<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\u5c02\u9580\u7684\u306a\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u304c\u78ba\u5b9a\u8a3a\u65ad\u306e\u624b\u6bb5\u306b\u306a\u308a\u307e\u3059\u3002\u3053\u306e\u4f4d\u7f6e\u3065\u3051\u306f\u3001\u8a18\u4e8b\u5f8c\u534a\u3067\u3082\u6539\u3081\u3066\u8aac\u660e\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%8E%9F%E5%9B%A0%EF%BD%9CFGFR2%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AE%E8%86%9C%E8%B2%AB%E9%80%9A%E3%83%89%E3%83%A1%E3%82%A4%E3%83%B3%E5%A4%89%E7%95%B0%E3%81%A8%E3%81%84%E3%81%86%E7%89%B9%E5%BE%B4\"><\/span>\u539f\u56e0\uff5cFGFR2\u907a\u4f1d\u5b50\u306e\u819c\u8cab\u901a\u30c9\u30e1\u30a4\u30f3\u5909\u7570\u3068\u3044\u3046\u7279\u5fb4<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>BBDS\u306f\u3001\u7b2c10\u67d3\u8272\u4f53\uff0810q26.13\uff09\u306b\u4f4d\u7f6e\u3059\u308bFGFR2\u907a\u4f1d\u5b50\u306e\u30d8\u30c6\u30ed\u63a5\u5408\u578b\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002<\/strong>\u540c\u3058FGFR2\u306e\u5909\u7570\u3067\u3082\u3001\u3069\u306e\u90e8\u5206\u306b\u5909\u7570\u304c\u8d77\u3053\u308b\u304b\u3067\u75be\u60a3\u306e\u73fe\u308c\u65b9\u304c\u7570\u306a\u308a\u307e\u3059\u3002\u3053\u3053\u3067\u306f\u3001\u305d\u306e\u5206\u5b50\u30ec\u30d9\u30eb\u306e\u9055\u3044\u3092\u898b\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%86%9C%E8%B2%AB%E9%80%9A%E3%83%89%E3%83%A1%E3%82%A4%E3%83%B3%E3%81%B8%E3%81%AE%E7%89%B9%E7%95%B0%E7%9A%84%E3%81%AA%E5%A4%89%E7%95%B0\"><\/span><strong>\u819c\u8cab\u901a\u30c9\u30e1\u30a4\u30f3\u3078\u306e\u7279\u7570\u7684\u306a\u5909\u7570<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u30a2\u30da\u30fc\u30eb\u75c7\u5019\u7fa4\u3084\u30af\u30eb\u30fc\u30be\u30f3\u75c7\u5019\u7fa4\u306f\u3001\u4e3b\u306b\u7d30\u80de\u306e\u5916\u5074\u306b\u7a81\u304d\u51fa\u305f\u90e8\u5206\uff08\u7d30\u80de\u5916\u30c9\u30e1\u30a4\u30f3\uff09\u306e\u5909\u7570\u304c\u539f\u56e0\u3067\u3059\u3002\u4e00\u65b9\u3067BBDS\u306f\u3001\u7d30\u80de\u819c\u3092\u8cab\u304f\u90e8\u5206\uff08\u819c\u8cab\u901a\u30c9\u30e1\u30a4\u30f3\uff09\u306b\u304a\u3051\u308b\u7279\u7570\u7684\u306a\u30a2\u30df\u30ce\u9178\u306e\u7f6e\u63db\uff08\u4f8b\uff1aMet391Arg\u306a\u3069\uff09\u304c\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002\u5909\u7570\u306e\u8d77\u3053\u308b\u5834\u6240\u304c\u9055\u3046\u304b\u3089\u3053\u305d\u3001\u73fe\u308c\u308b\u75c7\u72b6\u3082\u5927\u304d\u304f\u7570\u306a\u308b\u306e\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u819c\u8cab\u901a\u30c9\u30e1\u30a4\u30f3\u306e\u5909\u7570\u306f\u3001\u53d7\u5bb9\u4f53\u304c\u30ea\u30ac\u30f3\u30c9\u306b\u4f9d\u5b58\u305b\u305a\u306b\u50cd\u304d\u7d9a\u3051\u308b\u72b6\u614b\u3092\u62db\u304d\u307e\u3059\u3002\u9aa8\u82bd\u7d30\u80de\u306e\u5206\u5316\u3084\u5897\u6b96\u306e\u30b7\u30b0\u30ca\u30eb\u304c\u904e\u5270\u306b\u6d3b\u6027\u5316\u3057\u3001\u6b63\u5e38\u306a\u9aa8\u5316\u306e\u30d7\u30ed\u30bb\u30b9\u304c\u8457\u3057\u304f\u59a8\u3052\u3089\u308c\u307e\u3059\u3002\u5f37\u5ea6\u304c\u4e0d\u8db3\u3057\u305f\u9aa8\u306f\u3001\u80ce\u5150\u671f\u306e\u7b4b\u53ce\u7e2e\u306a\u3069\u306e\u5727\u529b\u306b\u8010\u3048\u304d\u308c\u305a\u3001\u5f2f\u66f2\u3092\u751f\u3058\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<figure class=\"wp-block-image aligncenter\" style=\"margin:1.5rem auto;\">\n<svg role=\"img\" aria-label=\"FGFR2\u907a\u4f1d\u5b50\u306e\u5909\u7570\u90e8\u4f4d\u306e\u9055\u3044\u3092\u793a\u3059\u56f3\u3002\u30a2\u30da\u30fc\u30eb\u75c7\u5019\u7fa4\u30fb\u30af\u30eb\u30fc\u30be\u30f3\u75c7\u5019\u7fa4\u306f\u7d30\u80de\u5916\u30c9\u30e1\u30a4\u30f3\u306e\u5909\u7570\u3001\u30d9\u30f3\u30c8\u30dc\u30fc\u30f3\u9aa8\u7570\u5f62\u6210\u75c7\u306f\u819c\u8cab\u901a\u30c9\u30e1\u30a4\u30f3\u306e\u5909\u7570\" viewBox=\"0 0 720 260\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" style=\"max-width:720px;width:100%;height:auto;font-family:sans-serif;\">\n  <rect x=\"0\" y=\"0\" width=\"720\" height=\"260\" fill=\"#fff9fb\"\/>\n  <text x=\"360\" y=\"36\" text-anchor=\"middle\" font-size=\"19\" fill=\"#5a2b3a\">FGFR2\u907a\u4f1d\u5b50\u3000\u5909\u7570\u90e8\u4f4d\u306e\u3061\u304c\u3044<\/text>\n  <rect x=\"40\" y=\"60\" width=\"300\" height=\"150\" rx=\"12\" fill=\"#fbe1eb\"\/>\n  <text x=\"190\" 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x=\"360\" y=\"240\" text-anchor=\"middle\" font-size=\"14\" fill=\"#9a6070\">\u540c\u3058FGFR2\u907a\u4f1d\u5b50\u3067\u3082\u3001\u5909\u7570\u306e\u4f4d\u7f6e\u306b\u3088\u308a\u73fe\u308c\u65b9\u304c\u7570\u306a\u308b<\/text>\n<\/svg>\n<figcaption>FGFR2\u907a\u4f1d\u5b50\u306e\u5909\u7570\u90e8\u4f4d\u306e\u9055\u3044\u306b\u3088\u308b\u75be\u60a3\u306e\u5206\u304b\u308c\u65b9\uff08\u30a4\u30e1\u30fc\u30b8\uff09<\/figcaption>\n<\/figure>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%B8%BB%E3%81%AA%E7%97%87%E7%8A%B6%E3%81%A8%E7%94%BB%E5%83%8F%E3%81%A7%E3%82%8F%E3%81%8B%E3%82%8B%E7%89%B9%E5%BE%B4%E7%9A%84%E3%81%AA%E6%89%80%E8%A6%8B\"><\/span>\u4e3b\u306a\u75c7\u72b6\u3068\u753b\u50cf\u3067\u308f\u304b\u308b\u7279\u5fb4\u7684\u306a\u6240\u898b<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>BBDS\u306e\u8a3a\u65ad\u306f\u3001\u51fa\u751f\u524d\u306e\u8d85\u97f3\u6ce2\u691c\u67fb\u3084\u51fa\u751f\u5f8c\u306e\u30ec\u30f3\u30c8\u30b2\u30f3\u6240\u898b\u304c\u6c7a\u5b9a\u7684\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u307e\u3059\u3002<\/strong>\u7279\u5fb4\u7684\u306a\u6240\u898b\u306f\u3044\u304f\u3064\u304b\u306e\u90e8\u4f4d\u306b\u5206\u3051\u3066\u6574\u7406\u3067\u304d\u307e\u3059\u3002\u9806\u306b\u898b\u3066\u3044\u304d\u307e\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%95%B7%E7%AE%A1%E9%AA%A8%E3%81%AE%E8%91%97%E3%81%97%E3%81%84%E5%BC%AF%E6%9B%B2\"><\/span><strong>\u9577\u7ba1\u9aa8\u306e\u8457\u3057\u3044\u5f2f\u66f2<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6700\u3082\u7279\u5fb4\u7684\u306a\u6240\u898b\u306f\u3001\u5927\u817f\u9aa8\u3068\u811b\u9aa8\u306e\u5f13\u72b6\u306e\u5909\u5f62\u3067\u3059\u3002\u7279\u306b\u5927\u817f\u9aa8\u306e\u4e2d\u592e\u4ed8\u8fd1\u3067\u5f37\u3044\u5f2f\u66f2\u304c\u307f\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5927\u817f\u9aa8\u30fb\u811b\u9aa8\u306e\u5f13\u72b6\u5909\u5f62\uff1a<\/strong>\u9577\u7ba1\u9aa8\u306e\u5f2f\u66f2\u306e\u4e2d\u3067\u3082\u6700\u3082\u76ee\u7acb\u3064\u6240\u898b\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8153\u9aa8\u306e\u4f4e\u5f62\u6210\u30fb\u6b20\u640d\uff1a<\/strong>\u3059\u306d\u306e\u7d30\u3044\u9aa8\u3067\u3042\u308b\u8153\u9aa8\u306e\u6b20\u640d\u3084\u8457\u3057\u3044\u4f4e\u5f62\u6210\u3092\u4f34\u3046\u3053\u3068\u304c\u591a\u304f\u3001\u4e0b\u80a2\u306e\u5909\u5f62\u3092\u3088\u308a\u5f37\u8abf\u3055\u305b\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u982d\u84cb\u30fb\u9854\u9762\u306b\u3082\u7279\u5fb4\u7684\u306a\u6240\u898b\u304c\u307f\u3089\u308c\u307e\u3059\u3002\u51a0\u72b6\u7e2b\u5408\u306a\u3069\u306e\u65e9\u671f\u9589\u9396\u306b\u3088\u308a\u3001\u30af\u30ed\u30fc\u30d0\u30fc\u8449\u982d\u84cb\u3084\u77ed\u982d\u75c7\u3092\u5448\u3059\u308b\u3053\u3068\u304c\u5c11\u306a\u304f\u3042\u308a\u307e\u305b\u3093\u3002\u773c\u7aa9\u304c\u6d45\u3044\u305f\u3081\u306b\u773c\u7403\u304c\u7a81\u51fa\u3057\u3001\u9f3b\u6839\u90e8\u304c\u9665\u51f9\u3057\u305f\u7279\u6709\u306e\u9854\u7acb\u3061\u3068\u306a\u308b\u70b9\u3082\u3001\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u78ba\u8a8d\u3057\u3084\u3059\u3044\u624b\u304c\u304b\u308a\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%9D%E3%81%AE%E4%BB%96%E3%81%AE%E9%AA%A8%E6%A0%BC%E6%89%80%E8%A6%8B\"><\/span><strong>\u305d\u306e\u4ed6\u306e\u9aa8\u683c\u6240\u898b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u56db\u80a2\u3084\u982d\u84cb\u4ee5\u5916\u306b\u3082\u3001\u78ba\u8a8d\u3057\u3066\u304a\u304d\u305f\u3044\u6240\u898b\u304c\u3042\u308a\u307e\u3059\u3002\u9396\u9aa8\u304c\u975e\u5e38\u306b\u77ed\u3044\u3001\u3042\u308b\u3044\u306f\u4e00\u90e8\u6b20\u640d\u3057\u3066\u3044\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u9aa8\u76e4\u306e\u30ec\u30f3\u30c8\u30b2\u30f3\u3067\u306f\u6065\u9aa8\u306e\u9aa8\u5316\u9045\u5ef6\u304c\u3057\u3070\u3057\u3070\u78ba\u8a8d\u3055\u308c\u307e\u3059\u3002\u624b\u8db3\u306e\u6307\u306e\u6570\u306b\u7570\u5e38\u304c\u307f\u3089\u308c\u308b\u4f8b\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<figure class=\"wp-block-image aligncenter\" style=\"margin:1.5rem auto;\">\n<svg role=\"img\" aria-label=\"\u30d9\u30f3\u30c8\u30dc\u30fc\u30f3\u9aa8\u7570\u5f62\u6210\u75c7\u3067\u307f\u3089\u308c\u308b\u4e3b\u306a\u6240\u898b\u306e\u5206\u985e\u3002\u56db\u80a2\u306e\u9aa8\u683c\u6240\u898b\u3001\u982d\u84cb\u30fb\u9854\u9762\u306e\u6240\u898b\u3001\u305d\u306e\u4ed6\u306e\u9aa8\u683c\u6240\u898b\" viewBox=\"0 0 720 300\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" style=\"max-width:720px;width:100%;height:auto;font-family:sans-serif;\">\n  <rect x=\"0\" y=\"0\" width=\"720\" height=\"300\" fill=\"#fff9fb\"\/>\n  <text x=\"360\" y=\"36\" text-anchor=\"middle\" font-size=\"19\" fill=\"#5a2b3a\">\u4e3b\u306a\u6240\u898b\u306e\u5206\u985e<\/text>\n  <rect x=\"40\" y=\"60\" width=\"310\" height=\"95\" rx=\"12\" fill=\"#f6b8cd\"\/>\n  <text x=\"195\" y=\"95\" text-anchor=\"middle\" font-size=\"16\" fill=\"#5a2b3a\">\u56db\u80a2\u306e\u9aa8\u683c\u6240\u898b<\/text>\n  <text x=\"195\" y=\"125\" text-anchor=\"middle\" font-size=\"14\" fill=\"#5a2b3a\">\u5927\u817f\u9aa8\u30fb\u811b\u9aa8\u306e\u5f2f\u66f2\u3001\u8153\u9aa8\u306e\u4f4e\u5f62\u6210<\/text>\n  <rect x=\"370\" y=\"60\" width=\"310\" height=\"95\" rx=\"12\" fill=\"#fbe1eb\"\/>\n  <text x=\"525\" y=\"95\" text-anchor=\"middle\" font-size=\"16\" fill=\"#5a2b3a\">\u982d\u84cb\u30fb\u9854\u9762\u306e\u6240\u898b<\/text>\n  <text x=\"525\" y=\"125\" text-anchor=\"middle\" font-size=\"14\" fill=\"#5a2b3a\">\u30af\u30ed\u30fc\u30d0\u30fc\u8449\u982d\u84cb\u3001\u773c\u7403\u7a81\u51fa<\/text>\n  <rect x=\"40\" y=\"175\" width=\"640\" height=\"95\" rx=\"12\" fill=\"#fbe1eb\"\/>\n  <text x=\"360\" y=\"205\" text-anchor=\"middle\" font-size=\"16\" fill=\"#5a2b3a\">\u305d\u306e\u4ed6\u306e\u9aa8\u683c\u6240\u898b<\/text>\n  <text x=\"360\" y=\"235\" text-anchor=\"middle\" font-size=\"14\" fill=\"#5a2b3a\">\u9396\u9aa8\u306e\u4f4e\u5f62\u6210\u3001\u6065\u9aa8\u306e\u9aa8\u5316\u9045\u5ef6\u3001\u591a\u6307\u75c7\u3092\u4f34\u3046\u3053\u3068\u304c\u3042\u308b<\/text>\n<\/svg>\n<figcaption>\u30d9\u30f3\u30c8\u30dc\u30fc\u30f3\u9aa8\u7570\u5f62\u6210\u75c7\u3067\u307f\u3089\u308c\u308b\u4e3b\u306a\u6240\u898b\u306e\u5206\u985e\uff08\u30a4\u30e1\u30fc\u30b8\uff09<\/figcaption>\n<\/figure>\n\n\n\n<figure class=\"wp-block-image aligncenter size-full\"><img decoding=\"async\" src=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-content\/uploads\/2026\/01\/33880960_s.webp\" alt=\"\u8d64\u3061\u3083\u3093\u306e\u691c\u67fb\u7d50\u679c\u3092\u533b\u5e2b\u3068\u78ba\u8a8d\u3059\u308b\u30a4\u30e1\u30fc\u30b8\"\/><\/figure>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%91%91%E5%88%A5%E8%A8%BA%E6%96%AD%EF%BD%9C%E4%BC%BC%E3%81%9F%E7%97%87%E7%8A%B6%E3%82%92%E7%A4%BA%E3%81%99%E9%AA%A8%E7%B3%BB%E7%B5%B1%E7%96%BE%E6%82%A3%E3%81%A8%E3%81%AE%E9%81%95%E3%81%84\"><\/span>\u9451\u5225\u8a3a\u65ad\uff5c\u4f3c\u305f\u75c7\u72b6\u3092\u793a\u3059\u9aa8\u7cfb\u7d71\u75be\u60a3\u3068\u306e\u9055\u3044<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>BBDS\u306f\u975e\u5e38\u306b\u7a00\u306a\u75be\u60a3\u3067\u3042\u308b\u305f\u3081\u3001\u4ed6\u306e\u300c\u9aa8\u304c\u66f2\u304c\u308b\u300d\u9aa8\u7cfb\u7d71\u75be\u60a3\u3068\u306e\u9451\u5225\u304c\u8a3a\u65ad\u306e\u3046\u3048\u3067\u91cd\u8981\u3067\u3059\u3002<\/strong>\u539f\u56e0\u907a\u4f1d\u5b50\u3068\u7279\u5fb4\u7684\u306a\u9055\u3044\u3092\u6574\u7406\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<figure class=\"wp-block-table\"><table><thead><tr><th>\u75be\u60a3\u540d<\/th><th>\u539f\u56e0\u907a\u4f1d\u5b50<\/th><th>BBDS\u3068\u306e\u9055\u3044<\/th><\/tr><\/thead><tbody><tr><td>\u30ab\u30f3\u30dd\u30e1\u30ea\u30c3\u30af\u9aa8\u7570\u5f62\u6210\u75c7<\/td><td>SOX9<\/td><td>\u9577\u7ba1\u9aa8\u306e\u5f2f\u66f2\u306f\u5171\u901a\u3057\u307e\u3059\u304c\u3001\u6027\u5206\u5316\u7570\u5e38\uff08\u5916\u6027\u5668\u306e\u4e0d\u660e\u77ad\u5316\uff09\u3084\u80a9\u7532\u9aa8\u306e\u4f4e\u5f62\u6210\u304c\u9855\u8457\u3067\u3059<\/td><\/tr><tr><td>\u81f4\u6b7b\u6027\u9aa8\u7570\u5f62\u6210\u75c7<\/td><td>FGFR3<\/td><td>1\u578b\u3067\u306f\u5927\u817f\u9aa8\u304c\u53d7\u8a71\u5668\u306e\u3088\u3046\u306a\u5f62\u306b\u5f2f\u66f2\u3057\u307e\u3059\u304c\u3001BBDS\u307b\u3069\u9577\u7ba1\u9aa8\u306e\u4f4e\u5f62\u6210\u3084\u9396\u9aa8\u7570\u5e38\u306f\u76ee\u7acb\u3061\u307e\u305b\u3093<\/td><\/tr><tr><td>\u30b7\u30e5\u30c8\u30a5\u30fc\u30f4\u30a7\u30fb\u30f4\u30a3\u30fc\u30c7\u30de\u30f3\u75c7\u5019\u7fa4<\/td><td>LIFR<\/td><td>\u767a\u6c57\u7570\u5e38\u3084\u4f53\u6e29\u8abf\u7bc0\u969c\u5bb3\u3068\u3044\u3063\u305f\u81ea\u5f8b\u795e\u7d4c\u4e0d\u5168\u3092\u4f34\u3046\u70b9\u304c\u7279\u5fb4\u3067\u3059<\/td><\/tr><\/tbody><\/table><figcaption>BBDS\u3068\u9451\u5225\u3059\u3079\u304d\u4e3b\u306a\u9aa8\u7cfb\u7d71\u75be\u60a3\u306e\u6bd4\u8f03<\/figcaption><\/figure>\n\n\n\n<p>\u6700\u7d42\u7684\u306a\u78ba\u5b9a\u8a3a\u65ad\u306f\u3001\u3053\u308c\u3089\u306e\u81e8\u5e8a\u75c7\u72b6\u3068\u753b\u50cf\u6240\u898b\u3092\u3075\u307e\u3048\u305f\u3046\u3048\u3067\u3001FGFR2\u907a\u4f1d\u5b50\u306e\u907a\u4f1d\u5b50\u89e3\u6790\uff08\u30bf\u30fc\u30b2\u30c3\u30c8\u30b7\u30fc\u30b1\u30f3\u30b9\u306a\u3069\uff09\u306b\u3088\u3063\u3066\u819c\u8cab\u901a\u30c9\u30e1\u30a4\u30f3\u306e\u5909\u7570\u3092\u78ba\u8a8d\u3059\u308b\u3053\u3068\u3067\u5f97\u3089\u308c\u307e\u3059\u3002\u982d\u84cb\u7e2b\u5408\u306e\u65e9\u671f\u7652\u5408\u3068\u3044\u3046\u5171\u901a\u70b9\u3092\u3082\u3064\u75be\u60a3\u7fa4\u306b\u3064\u3044\u3066\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/craniosynostosis-2-msx2-boston-type-guide\/\">\u982d\u84cb\u9aa8\u7e2b\u5408\u65e9\u671f\u7652\u5408\u75c72\u578b\uff08MSX2\u30fb\u30dc\u30b9\u30c8\u30f3\u578b\uff09\u306e\u89e3\u8aac\u8a18\u4e8b<\/a>\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/craniosynostosis-4-erf-guide\/\">\u982d\u84cb\u9aa8\u7e2b\u5408\u65e9\u671f\u7652\u5408\u75c74\u578b\uff08ERF\u907a\u4f1d\u5b50\uff09\u306e\u89e3\u8aac\u8a18\u4e8b<\/a>\u3082\u3042\u308f\u305b\u3066\u53c2\u8003\u306b\u3057\u3066\u304f\u3060\u3055\u3044\u3002\u540c\u3058\u304f\u81f4\u6b7b\u6027\u306e\u9aa8\u7cfb\u7d71\u75be\u60a3\u3068\u3057\u3066\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/achondrogenesis-type2-hypochondrogenesis\/\">\u8edf\u9aa8\u7121\u767a\u751f\u75c72\u578b\u30fb\u4f4e\u8edf\u9aa8\u5f62\u6210\u75c7\u306e\u89e3\u8aac\u8a18\u4e8b<\/a>\u3082\u3001\u9aa8\u7cfb\u7d71\u75be\u60a3\u30af\u30e9\u30b9\u30bf\u30fc\u3068\u3057\u3066\u77e5\u3063\u3066\u304a\u304f\u3068\u7406\u89e3\u304c\u6df1\u307e\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%87%BA%E7%94%9F%E5%BE%8C%E3%81%AE%E7%B5%8C%E9%81%8E%E3%81%A8%E3%81%94%E5%AE%B6%E6%97%8F%E3%81%B8%E3%81%AE%E3%82%B5%E3%83%9D%E3%83%BC%E3%83%88%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%AE%E6%84%8F%E7%BE%A9\"><\/span>\u51fa\u751f\u5f8c\u306e\u7d4c\u904e\u3068\u3054\u5bb6\u65cf\u3078\u306e\u30b5\u30dd\u30fc\u30c8\uff5c\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u610f\u7fa9<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>BBDS\u306f\u3001\u73fe\u5728\u306e\u533b\u5b66\u306b\u304a\u3044\u3066\u3082\u51fa\u751f\u5f8c\u306e\u7d4c\u904e\u304c\u53b3\u3057\u3044\u75be\u60a3\u3067\u3042\u308b\u3053\u3068\u3092\u3001\u307e\u305a\u8aa0\u5b9f\u306b\u304a\u4f1d\u3048\u3059\u308b\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u3002<\/strong>\u305d\u306e\u4e8b\u5b9f\u3092\u53d7\u3051\u6b62\u3081\u305f\u3046\u3048\u3067\u3001\u3069\u306e\u3088\u3046\u306a\u652f\u63f4\u304c\u3042\u308b\u306e\u304b\u3092\u6574\u7406\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%E7%9B%B4%E5%BE%8C%E3%81%AE%E9%9B%86%E4%B8%AD%E6%B2%BB%E7%99%82\"><\/span><strong>\u51fa\u751f\u76f4\u5f8c\u306e\u96c6\u4e2d\u6cbb\u7642<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u51fa\u751f\u76f4\u5f8c\u304b\u3089\u3001\u3044\u304f\u3064\u304b\u306e\u91cd\u7be4\u306a\u5408\u4f75\u75c7\u3078\u306e\u5bfe\u5fdc\u304c\u5fc5\u8981\u306b\u306a\u308a\u307e\u3059\u3002\u5c0f\u984e\u75c7\u3084\u80f8\u90ed\u306e\u4f4e\u5f62\u6210\u306b\u3088\u308a\u6c17\u9053\u78ba\u4fdd\u304c\u96e3\u3057\u3044\u3053\u3068\u304c\u591a\u304f\u3001\u4eba\u5de5\u547c\u5438\u7ba1\u7406\u3092\u8981\u3059\u308b\u5834\u5408\u304c\u307b\u3068\u3093\u3069\u3067\u3059\u3002\u982d\u84cb\u7e2b\u5408\u306e\u65e9\u671f\u7652\u5408\u306b\u4f34\u3063\u3066\u982d\u84cb\u5185\u5727\u304c\u6025\u6fc0\u306b\u9ad8\u307e\u308b\u3053\u3068\u3082\u3042\u308a\u3001\u8133\u5916\u79d1\u7684\u306a\u4ecb\u5165\u304c\u691c\u8a0e\u3055\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u5168\u8eab\u72b6\u614b\u3068\u306e\u517c\u306d\u5408\u3044\u3067\u96e3\u3057\u3044\u30b1\u30fc\u30b9\u304c\u5c11\u306a\u304f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u79c1\u306f\u3053\u308c\u307e\u3067\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u73fe\u5834\u3092\u901a\u3058\u3066\u3001\u3054\u5bb6\u65cf\u304c\u53b3\u3057\u3044\u898b\u901a\u3057\u3092\u53d7\u3051\u6b62\u3081\u306a\u304c\u3089\u3082\u3001\u9650\u3089\u308c\u305f\u6642\u9593\u306e\u4e2d\u3067\u3067\u304d\u308b\u3053\u3068\u3092\u4e00\u3064\u305a\u3064\u8003\u3048\u3066\u3044\u304f\u59ff\u3092\u898b\u3066\u304d\u307e\u3057\u305f\u3002\u4e8b\u5b9f\u3092\u4f1d\u3048\u308b\u3053\u3068\u3068\u3001\u3054\u5bb6\u65cf\u306e\u6c17\u6301\u3061\u306b\u5bc4\u308a\u6dfb\u3046\u3053\u3068\u306f\u3001\u3069\u3061\u3089\u3082\u6b20\u304b\u305b\u306a\u3044\u3068\u611f\u3058\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%86%8D%E7%99%BA%E3%83%AA%E3%82%B9%E3%82%AF%E3%81%A8%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\"><\/span><strong>\u518d\u767a\u30ea\u30b9\u30af\u3068\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>BBDS\u306e\u591a\u304f\u306f\u65b0\u751f\u7a81\u7136\u5909\u7570\u3067\u3059\u304c\u3001\u4e21\u89aa\u306e\u3069\u3061\u3089\u304b\u304c\u751f\u6b96\u7d30\u80de\u306b\u306e\u307f\u5909\u7570\u3092\u3082\u3064\u72b6\u614b\uff08\u6027\u817a<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mosaicism\/\">\u30e2\u30b6\u30a4\u30af<\/a>\uff09\u3092\u5b8c\u5168\u306b\u306f\u5426\u5b9a\u3067\u304d\u307e\u305b\u3093\u3002\u6b21\u306e\u598a\u5a20\u3067\u306e\u518d\u767a\u30ea\u30b9\u30af\u306b\u3064\u3044\u3066\u306f\u3001\u5c02\u9580\u306e\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u306b\u3088\u308b\u4e01\u5be7\u306a\u8aac\u660e\u3092\u53d7\u3051\u3066\u304f\u3060\u3055\u3044\u3002\u96e3\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc\uff08<a href=\"https:\/\/www.nanbyou.or.jp\/\" target=\"_blank\" rel=\"noopener\">nanbyou.or.jp<\/a>\uff09\u3084\u5c0f\u5150\u6162\u6027\u7279\u5b9a\u75be\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc\uff08<a href=\"https:\/\/www.shouman.jp\/\" target=\"_blank\" rel=\"noopener\">shouman.jp<\/a>\uff09\u3068\u3044\u3063\u305f\u516c\u7684\u306a\u60c5\u5831\u6e90\u3082\u3001\u75be\u60a3\u306e\u5168\u4f53\u50cf\u3092\u78ba\u8a8d\u3059\u308b\u624b\u304c\u304b\u308a\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"text-align:center;margin:2em 0;\"><a href=\"https:\/\/mypage-nipt-reservation.hiro-clinic.or.jp\/registration\" target=\"_blank\" rel=\"noopener\" style=\"display:inline-block;padding:0.8em 2em;background:#e8608a;color:#fff;border-radius:30px;text-decoration:none;font-weight:bold;\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30afNIPT\u306e\u4e88\u7d04\u306f\u3053\u3061\u3089<\/a><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%87%BA%E7%94%9F%E5%89%8D%E6%A4%9C%E6%9F%BB%E3%81%A7%E3%82%8F%E3%81%8B%E3%82%8B%E3%81%93%E3%81%A8%EF%BD%9CNIPT%E3%81%AE%E4%BD%8D%E7%BD%AE%E3%81%A5%E3%81%91%E3%81%A8%E7%A2%BA%E5%AE%9A%E8%A8%BA%E6%96%AD\"><\/span>\u51fa\u751f\u524d\u691c\u67fb\u3067\u308f\u304b\u308b\u3053\u3068\uff5cNIPT\u306e\u4f4d\u7f6e\u3065\u3051\u3068\u78ba\u5b9a\u8a3a\u65ad<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>NIPT\u306f\u4e3b\u306b13\u30fb18\u30fb21\u30c8\u30ea\u30bd\u30df\u30fc\u306a\u3069\u3001\u67d3\u8272\u4f53\u306e\u6570\u7684\u7570\u5e38\u3092\u8abf\u3079\u308b\u975e\u78ba\u5b9a\u7684\u306a\u691c\u67fb\u3067\u3042\u308a\u3001BBDS\u306e\u3088\u3046\u306a\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u306f\u4e00\u822c\u306b\u5bfe\u8c61\u5916\u3067\u3059\u3002<\/strong>\u3053\u3053\u3067\u306f\u3001\u51fa\u751f\u524d\u691c\u67fb\u3054\u3068\u306b\u5206\u304b\u308b\u3053\u3068\u306e\u9055\u3044\u3092\u6574\u7406\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u598a\u5a20\u4e2d\u306b\u53d7\u3051\u3089\u308c\u308b\u691c\u67fb\u306b\u306f\u3001\u305d\u308c\u305e\u308c\u8abf\u3079\u3089\u308c\u308b\u7bc4\u56f2\u304c\u3042\u308a\u307e\u3059\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-detectable-conditions\/\">NIPT\u3067\u5206\u304b\u308b\u75be\u60a3\u306e\u89e3\u8aac\u8a18\u4e8b<\/a>\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/down-syndrome-pregnancy-risk-test\/\">\u30c0\u30a6\u30f3\u75c7\u5019\u7fa4\u3068\u51fa\u751f\u524d\u691c\u67fb\u306e\u89e3\u8aac\u8a18\u4e8b<\/a>\u3067\u3082\u3075\u308c\u3066\u3044\u308b\u3068\u304a\u308a\u3001NIPT\u306f\u3042\u304f\u307e\u3067\u67d3\u8272\u4f53\u306e\u6570\u7684\u7570\u5e38\u3092\u5bfe\u8c61\u3068\u3057\u305f\u975e\u78ba\u5b9a\u7684\u691c\u67fb\u3067\u3059\u3002BBDS\u306e\u3088\u3046\u306b\u7279\u5b9a\u306e\u907a\u4f1d\u5b50\u4e00\u3064\u306e\u5909\u7570\u304c\u539f\u56e0\u306e\u75be\u60a3\u3092\u78ba\u8a8d\u3057\u305f\u3044\u5834\u5408\u306f\u3001<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\u30bf\u30fc\u30b2\u30c3\u30c8\u30b7\u30fc\u30b1\u30f3\u30b9\u306a\u3069\u3001\u5c02\u9580\u7684\u306a\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u304c\u5fc5\u8981\u306b\u306a\u308a\u307e\u3059\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/\">NIPT\uff08\u65b0\u578b\u51fa\u751f\u524d\u8a3a\u65ad\uff09\u306e\u57fa\u672c\u7684\u306a\u89e3\u8aac\u8a18\u4e8b<\/a>\u3082\u3042\u308f\u305b\u3066\u78ba\u8a8d\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<p>\u51fa\u751f\u524d\u691c\u67fb\u3092\u53d7\u3051\u305f\u3042\u3068\u3001\u6b21\u306b\u3069\u3046\u3059\u308b\u304b\u8ff7\u3046\u65b9\u306f\u5c11\u306a\u304f\u3042\u308a\u307e\u305b\u3093\u3002\u79c1\u306f\u76f8\u8ac7\u3092\u53d7\u3051\u308b\u4e2d\u3067\u3001\u4e00\u3064\u306e\u691c\u67fb\u7d50\u679c\u3060\u3051\u3067\u5b89\u5fc3\u3057\u304d\u308c\u305a\u3001\u8ffd\u52a0\u306e\u691c\u67fb\u3092\u8003\u3048\u308b\u65b9\u304c\u4e00\u5b9a\u6570\u3044\u3089\u3063\u3057\u3083\u308b\u3068\u611f\u3058\u3066\u3044\u307e\u3059\u3002X\u3067\u3082<a href=\"https:\/\/x.com\/komamatsuna\" target=\"_blank\" rel=\"noopener\">@komamatsuna<\/a>\u3055\u3093\u304c\u3001NIPT\u306f\u9670\u6027\u3060\u3063\u305f\u3082\u306e\u306e\u80ce\u5150\u30c9\u30c3\u30af\u3092\u8ffd\u52a0\u3067\u53d7\u3051\u308b\u304b\u3069\u3046\u304b\u60a9\u307f\u3001\u304a\u8179\u306e\u4e2d\u3067\u6cbb\u7642\u3067\u304d\u308b\u3053\u3068\u304c\u3042\u308b\u306e\u304b\u3092\u542b\u3081\u3066\u8003\u3048\u3066\u3044\u308b\u3068\u6295\u7a3f\u3057\u3066\u3044\u307e\u3057\u305f\u3002\u8ffd\u52a0\u306e\u691c\u67fb\u3092\u53d7\u3051\u308b\u610f\u5473\u3092\u3069\u3046\u6349\u3048\u308b\u304b\u306f\u3001\u591a\u304f\u306e\u65b9\u304c\u5411\u304d\u5408\u3046\u8ff7\u3044\u3060\u3068\u601d\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u691c\u67fb\u305d\u306e\u3082\u306e\u3060\u3051\u3067\u306a\u304f\u3001\u3069\u3053\u3067\u53d7\u3051\u308b\u304b\u3068\u3044\u3046\u65bd\u8a2d\u9078\u3073\u306b\u60a9\u3080\u58f0\u3082\u3042\u308a\u307e\u3059\u3002X\u3067\u3082<a href=\"https:\/\/x.com\/itsumonemui888\" target=\"_blank\" rel=\"noopener\">@itsumonemui888<\/a>\u3055\u3093\u304c\u3001NIPT\u3092\u53d7\u3051\u308b\u65bd\u8a2d\u306b\u3064\u3044\u3066\u3001\u8cbb\u7528\u3084\u30b9\u30d4\u30fc\u30c9\u3060\u3051\u3067\u306a\u304f\u8a8d\u8a3c\u6a5f\u95a2\u3067\u3042\u308b\u304b\u3069\u3046\u304b\u3092\u91cd\u8996\u3059\u3079\u304d\u304b\u8ff7\u3063\u3066\u3044\u308b\u3068\u3064\u3065\u3063\u3066\u3044\u307e\u3057\u305f\u3002\u8a8d\u8a3c\u3092\u53d7\u3051\u305f\u533b\u7642\u6a5f\u95a2\u3067\u691c\u67fb\u3092\u53d7\u3051\u3001\u7d50\u679c\u306e\u8aac\u660e\u3084\u6b21\u306e\u691c\u67fb\u306e\u76f8\u8ac7\u307e\u3067\u4e00\u8cab\u3057\u3066\u884c\u3048\u308b\u304b\u3069\u3046\u304b\u306f\u3001\u65bd\u8a2d\u9078\u3073\u306e\u5927\u5207\u306a\u8996\u70b9\u3067\u3059\u3002\u6c17\u306b\u306a\u308b\u70b9\u306f\u3001\u81ea\u5df1\u5224\u65ad\u3067\u6e08\u307e\u305b\u305a\u62c5\u5f53\u533b\u3084\u5c02\u9580\u6a5f\u95a2\u306b\u76f8\u8ac7\u3057\u3066\u304f\u3060\u3055\u3044\u3002<a href=\"https:\/\/www.jsog.or.jp\/\" target=\"_blank\" rel=\"noopener\">\u65e5\u672c\u7523\u79d1\u5a66\u4eba\u79d1\u5b66\u4f1a<\/a>\u306e\u60c5\u5831\u3082\u53c2\u8003\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"text-align:center;margin:2em 0;\"><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/line-registration\/\" target=\"_blank\" rel=\"noopener\" style=\"display:inline-block;padding:0.8em 2em;background:#e8608a;color:#fff;border-radius:30px;text-decoration:none;font-weight:bold;\">\u51fa\u751f\u524d\u691c\u67fb\u306e\u4e0d\u5b89\u3092LINE\u3067\u7121\u6599\u76f8\u8ac7\u3059\u308b<\/a><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%82%88%E3%81%8F%E3%81%82%E3%82%8B%E8%B3%AA%E5%95%8F\"><\/span>\u3088\u304f\u3042\u308b\u8cea\u554f<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_%E3%83%99%E3%83%B3%E3%83%88%E3%83%9C%E3%83%BC%E3%83%B3%E9%AA%A8%E7%95%B0%E5%BD%A2%E6%88%90%E7%97%87%E3%81%AFNIPT%E3%81%A7%E5%88%86%E3%81%8B%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span><strong>Q. \u30d9\u30f3\u30c8\u30dc\u30fc\u30f3\u9aa8\u7570\u5f62\u6210\u75c7\u306fNIPT\u3067\u5206\u304b\u308a\u307e\u3059\u304b\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u4e00\u822c\u7684\u306aNIPT\u3067\u306f\u5206\u304b\u308a\u307e\u305b\u3093\u3002NIPT\u306f\u4e3b\u306b13\u30fb18\u30fb21\u30c8\u30ea\u30bd\u30df\u30fc\u306a\u3069\u67d3\u8272\u4f53\u306e\u6570\u7684\u7570\u5e38\u3092\u8abf\u3079\u308b\u975e\u78ba\u5b9a\u7684\u691c\u67fb\u3067\u3042\u308a\u3001BBDS\u306e\u3088\u3046\u306a\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u306f\u5bfe\u8c61\u5916\u3067\u3059\u3002\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u9577\u7ba1\u9aa8\u306e\u5f2f\u66f2\u306a\u3069\u306e\u6240\u898b\u304c\u7591\u308f\u308c\u305f\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\u5b66\u7684\u691c\u67fb\u304c\u5fc5\u8981\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E7%97%87%E7%8A%B6%E3%81%8C%E7%89%B9%E5%BE%B4%E3%81%A7%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span><strong>Q. \u3069\u306e\u3088\u3046\u306a\u75c7\u72b6\u304c\u7279\u5fb4\u3067\u3059\u304b\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5927\u817f\u9aa8\u3084\u811b\u9aa8\u3068\u3044\u3063\u305f\u9577\u7ba1\u9aa8\u306e\u5f13\u72b6\u306e\u5f2f\u66f2\u304c\u6700\u3082\u7279\u5fb4\u7684\u306a\u6240\u898b\u3067\u3059\u3002\u52a0\u3048\u3066\u3001\u30af\u30ed\u30fc\u30d0\u30fc\u8449\u982d\u84cb\u3084\u773c\u7403\u7a81\u51fa\u306a\u3069\u306e\u982d\u84cb\u30fb\u9854\u9762\u306e\u7570\u5e38\u3001\u8153\u9aa8\u3084\u9396\u9aa8\u306e\u4f4e\u5f62\u6210\u3001\u6065\u9aa8\u306e\u9aa8\u5316\u9045\u5ef6\u306a\u3069\u304c\u307f\u3089\u308c\u307e\u3059\u3002\u3053\u308c\u3089\u306f\u51fa\u751f\u524d\u306e\u8d85\u97f3\u6ce2\u691c\u67fb\u3084\u51fa\u751f\u5f8c\u306e\u30ec\u30f3\u30c8\u30b2\u30f3\u3067\u78ba\u8a8d\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_%E3%82%A2%E3%83%9A%E3%83%BC%E3%83%AB%E7%97%87%E5%80%99%E7%BE%A4%E3%82%84%E3%82%AF%E3%83%AB%E3%83%BC%E3%82%BE%E3%83%B3%E7%97%87%E5%80%99%E7%BE%A4%E3%81%A8%E4%BD%95%E3%81%8C%E9%81%95%E3%81%86%E3%81%AE%E3%81%A7%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span><strong>Q. \u30a2\u30da\u30fc\u30eb\u75c7\u5019\u7fa4\u3084\u30af\u30eb\u30fc\u30be\u30f3\u75c7\u5019\u7fa4\u3068\u4f55\u304c\u9055\u3046\u306e\u3067\u3059\u304b\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3044\u305a\u308c\u3082FGFR2\u907a\u4f1d\u5b50\u306e\u5909\u7570\u304c\u539f\u56e0\u3067\u3059\u304c\u3001\u5909\u7570\u306e\u8d77\u3053\u308b\u90e8\u4f4d\u304c\u7570\u306a\u308a\u307e\u3059\u3002\u30a2\u30da\u30fc\u30eb\u75c7\u5019\u7fa4\u3084\u30af\u30eb\u30fc\u30be\u30f3\u75c7\u5019\u7fa4\u306f\u4e3b\u306b\u7d30\u80de\u5916\u30c9\u30e1\u30a4\u30f3\u306e\u5909\u7570\u304c\u539f\u56e0\u3067\u3042\u308b\u306e\u306b\u5bfe\u3057\u3001BBDS\u306f\u819c\u8cab\u901a\u30c9\u30e1\u30a4\u30f3\u306e\u7279\u7570\u7684\u306a\u5909\u7570\u304c\u539f\u56e0\u3067\u3059\u3002\u3053\u306e\u9055\u3044\u304c\u3001\u9577\u7ba1\u9aa8\u306e\u5f2f\u66f2\u3068\u3044\u3046\u7279\u5fb4\u7684\u306a\u6240\u898b\u306b\u3064\u306a\u304c\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_%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%96%BE%E6%82%A3%E3%81%8C%E8%B5%B7%E3%81%93%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span><strong>Q. \u6b21\u306e\u598a\u5a20\u3067\u3082\u540c\u3058\u75be\u60a3\u304c\u8d77\u3053\u308a\u307e\u3059\u304b\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>BBDS\u306e\u591a\u304f\u306f\u65b0\u751f\u7a81\u7136\u5909\u7570\u306e\u305f\u3081\u3001\u6b21\u306e\u598a\u5a20\u3067\u306e\u518d\u767a\u30ea\u30b9\u30af\u306f\u9ad8\u304f\u306a\u3044\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u305f\u3060\u3057\u3001\u4e21\u89aa\u306e\u3069\u3061\u3089\u304b\u304c\u6027\u817a<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mosaicism\/\">\u30e2\u30b6\u30a4\u30af<\/a>\u3092\u3082\u3064\u53ef\u80fd\u6027\u306f\u5b8c\u5168\u306b\u306f\u5426\u5b9a\u3067\u304d\u307e\u305b\u3093\u3002\u6b21\u5b50\u4ee5\u964d\u306e\u898b\u901a\u3057\u306b\u3064\u3044\u3066\u306f\u3001\u5c02\u9580\u306e\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u306b\u76f8\u8ac7\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_%E7%A2%BA%E5%AE%9A%E8%A8%BA%E6%96%AD%E3%81%AF%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AB%E8%A1%8C%E3%81%84%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span><strong>Q. \u78ba\u5b9a\u8a3a\u65ad\u306f\u3069\u306e\u3088\u3046\u306b\u884c\u3044\u307e\u3059\u304b\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u51fa\u751f\u524d\u306e\u8d85\u97f3\u6ce2\u691c\u67fb\u3084\u51fa\u751f\u5f8c\u306e\u30ec\u30f3\u30c8\u30b2\u30f3\u3067\u7279\u5fb4\u7684\u306a\u6240\u898b\u3092\u78ba\u8a8d\u3057\u305f\u3046\u3048\u3067\u3001<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\u308bFGFR2\u907a\u4f1d\u5b50\u306e\u30bf\u30fc\u30b2\u30c3\u30c8\u30b7\u30fc\u30b1\u30f3\u30b9\u3092\u884c\u3044\u3001\u819c\u8cab\u901a\u30c9\u30e1\u30a4\u30f3\u306e\u5909\u7570\u3092\u78ba\u8a8d\u3059\u308b\u3053\u3068\u3067\u78ba\u5b9a\u8a3a\u65ad\u3068\u306a\u308a\u307e\u3059\u3002\u30ab\u30f3\u30dd\u30e1\u30ea\u30c3\u30af\u9aa8\u7570\u5f62\u6210\u75c7\u3084\u81f4\u6b7b\u6027\u9aa8\u7570\u5f62\u6210\u75c7\u306a\u3069\u3001\u4f3c\u305f\u6240\u898b\u3092\u793a\u3059\u75be\u60a3\u3068\u306e\u9451\u5225\u3082\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_%E5%87%BA%E7%94%9F%E5%89%8D%E3%81%AB%E8%A6%8B%E3%81%A4%E3%81%8B%E3%81%A3%E3%81%9F%E5%A0%B4%E5%90%88%E3%80%81%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AB%E7%9B%B8%E8%AB%87%E3%82%92%E9%80%B2%E3%82%81%E3%82%8C%E3%81%B0%E3%82%88%E3%81%84%E3%81%A7%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span><strong>Q. \u51fa\u751f\u524d\u306b\u898b\u3064\u304b\u3063\u305f\u5834\u5408\u3001\u3069\u306e\u3088\u3046\u306b\u76f8\u8ac7\u3092\u9032\u3081\u308c\u3070\u3088\u3044\u3067\u3059\u304b\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u307e\u305a\u306f\u62c5\u5f53\u533b\u304b\u3089\u6240\u898b\u306e\u5185\u5bb9\u3092\u4e01\u5be7\u306b\u8aac\u660e\u3057\u3066\u3082\u3089\u3044\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u5c02\u9580\u306e\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u3078\u306e\u76f8\u8ac7\u3092\u691c\u8a0e\u3057\u3066\u304f\u3060\u3055\u3044\u3002\u51fa\u751f\u5f8c\u306e\u6cbb\u7642\u65b9\u91dd\u3084\u3054\u5bb6\u65cf\u306e\u30b5\u30dd\u30fc\u30c8\u4f53\u5236\u306b\u3064\u3044\u3066\u3082\u3001\u65e9\u3044\u6bb5\u968e\u304b\u3089\u533b\u7642\u30c1\u30fc\u30e0\u3068\u8a71\u3057\u5408\u3063\u3066\u304a\u304f\u3068\u3001\u6c17\u6301\u3061\u306e\u6574\u7406\u304c\u3057\u3084\u3059\u304f\u306a\u308a\u307e\u3059\u3002\u8a8d\u8a3c\u3092\u53d7\u3051\u305f\u533b\u7642\u6a5f\u95a2\u3067\u76f8\u8ac7\u3092\u9032\u3081\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<div style=\"border:1px solid #f0d0dc;border-radius:12px;padding:1.2em 1.4em;margin:2.5rem 0 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