{"id":122554,"date":"2026-01-14T10:56:46","date_gmt":"2026-01-14T01:56:46","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=122554"},"modified":"2026-07-24T05:20:22","modified_gmt":"2026-07-23T20:20:22","slug":"bohring-opitz-syndrome-bos-asxl1-symptoms-management","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/bohring-opitz-syndrome-bos-asxl1-symptoms-management\/","title":{"rendered":"\u30dc\u30fc\u30ea\u30f3\u30b0\u30fb\u30aa\u30d4\u30c3\u30c4\u75c7\u5019\u7fa4(BOS)\u3068\u306f\uff1fASXL1\u907a\u4f1d\u5b50\u5909\u7570\u306b\u3088\u308b\u75c7\u72b6\u3068\u7ba1\u7406\u3010\u533b\u5e2b\u76e3\u4fee\u3011"},"content":{"rendered":"\n<p><strong>\u7d50\u8ad6\u304b\u3089\u304a\u4f1d\u3048\u3057\u307e\u3059\u3002\u30dc\u30fc\u30ea\u30f3\u30b0\u30fb\u30aa\u30d4\u30c3\u30c4\u75c7\u5019\u7fa4(BOS)\u306f\u3001ASXL1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u304c\u539f\u56e0\u3067\u8d77\u3053\u308b\u3001\u5168\u8eab\u306b\u3055\u307e\u3056\u307e\u306a\u5f71\u97ff\u304c\u53ca\u3076\u975e\u5e38\u306b\u5e0c\u5c11\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002<\/strong>\u7279\u5fb4\u7684\u306a\u300cBOS\u59ff\u52e2\u300d\u3084\u9854\u3064\u304d\u3001\u91cd\u3044\u767a\u9054\u306e\u9045\u308c\u306a\u3069\u304b\u3089\u7591\u308f\u308c\u3001\u591a\u304f\u306f\u5076\u767a\u7684\u306a\u5909\u7570(de 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/bohring-opitz-syndrome-bos-asxl1-symptoms-management\/#%E7%A5%9E%E7%B5%8C%E5%AD%A6%E7%9A%84%E3%82%B1%E3%82%A2%E3%81%A8%E7%99%82%E8%82%B2\" >\u795e\u7d4c\u5b66\u7684\u30b1\u30a2\u3068\u7642\u80b2<\/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\/bohring-opitz-syndrome-bos-asxl1-symptoms-management\/#%E3%82%A6%E3%82%A3%E3%83%AB%E3%83%A0%E3%82%B9%E8%85%AB%E7%98%8D%E3%83%BB%E8%82%9D%E8%8A%BD%E8%85%AB%E3%81%AE%E3%82%B5%E3%83%BC%E3%83%99%E3%82%A4%E3%83%A9%E3%83%B3%E3%82%B9\" >\u30a6\u30a3\u30eb\u30e0\u30b9\u816b\u760d\u30fb\u809d\u82bd\u816b\u306e\u30b5\u30fc\u30d9\u30a4\u30e9\u30f3\u30b9<\/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\/bohring-opitz-syndrome-bos-asxl1-symptoms-management\/#%E3%81%94%E5%AE%B6%E6%97%8F%E3%81%B8%E3%81%AE%E6%94%AF%E6%8F%B4\" >\u3054\u5bb6\u65cf\u3078\u306e\u652f\u63f4<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-18\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/bohring-opitz-syndrome-bos-asxl1-symptoms-management\/#%E4%BA%88%E5%BE%8C%E3%81%A8%E3%81%94%E5%AE%B6%E6%97%8F%E3%81%B8%EF%BD%9C%E6%97%A9%E6%9C%9F%E8%A8%BA%E6%96%AD%E3%81%8C%E6%94%AF%E3%81%88%E3%81%AB%E3%81%AA%E3%82%8B%E7%90%86%E7%94%B1\" >\u4e88\u5f8c\u3068\u3054\u5bb6\u65cf\u3078\uff5c\u65e9\u671f\u8a3a\u65ad\u304c\u652f\u3048\u306b\u306a\u308b\u7406\u7531<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-19\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/bohring-opitz-syndrome-bos-asxl1-symptoms-management\/#NIPT%E3%81%A8%E5%8D%98%E4%B8%80%E9%81%BA%E4%BC%9D%E5%AD%90%E7%96%BE%E6%82%A3%EF%BD%9C%E9%80%9A%E5%B8%B8%E3%81%AE%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\" >NIPT\u3068\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\uff5c\u901a\u5e38\u306e\u51fa\u751f\u524d\u691c\u67fb\u3067\u308f\u304b\u308b\u3053\u3068<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-20\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/bohring-opitz-syndrome-bos-asxl1-symptoms-management\/#%E3%82%88%E3%81%8F%E3%81%82%E3%82%8B%E8%B3%AA%E5%95%8F%EF%BC%88FAQ%EF%BC%89\" >\u3088\u304f\u3042\u308b\u8cea\u554f\uff08FAQ\uff09<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-21\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/bohring-opitz-syndrome-bos-asxl1-symptoms-management\/#Q1_%E3%83%9C%E3%83%BC%E3%83%AA%E3%83%B3%E3%82%B0%E3%83%BB%E3%82%AA%E3%83%94%E3%83%83%E3%83%84%E7%97%87%E5%80%99%E7%BE%A4%E3%81%AF%E3%81%A9%E3%81%AE%E3%81%8F%E3%82%89%E3%81%84%E7%8F%8D%E3%81%97%E3%81%84%E7%97%85%E6%B0%97%E3%81%A7%E3%81%99%E3%81%8B%EF%BC%9F\" >Q1. \u30dc\u30fc\u30ea\u30f3\u30b0\u30fb\u30aa\u30d4\u30c3\u30c4\u75c7\u5019\u7fa4\u306f\u3069\u306e\u304f\u3089\u3044\u73cd\u3057\u3044\u75c5\u6c17\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-22\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/bohring-opitz-syndrome-bos-asxl1-symptoms-management\/#Q2_%E9%80%9A%E5%B8%B8%E3%81%AENIPT%E3%81%A7%E3%83%9C%E3%83%BC%E3%83%AA%E3%83%B3%E3%82%B0%E3%83%BB%E3%82%AA%E3%83%94%E3%83%83%E3%83%84%E7%97%87%E5%80%99%E7%BE%A4%E3%81%AF%E3%82%8F%E3%81%8B%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\" >Q2. \u901a\u5e38\u306eNIPT\u3067\u30dc\u30fc\u30ea\u30f3\u30b0\u30fb\u30aa\u30d4\u30c3\u30c4\u75c7\u5019\u7fa4\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-23\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/bohring-opitz-syndrome-bos-asxl1-symptoms-management\/#Q3_ASXL1%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AE%E5%A4%89%E7%95%B0%E3%81%AF%E8%A6%AA%E3%81%8B%E3%82%89%E9%81%BA%E4%BC%9D%E3%81%97%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F%E6%AC%A1%E3%81%AE%E5%AD%90%E3%81%A9%E3%82%82%E3%81%AB%E3%82%82%E8%B5%B7%E3%81%93%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\" >Q3. ASXL1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306f\u89aa\u304b\u3089\u907a\u4f1d\u3057\u307e\u3059\u304b\uff1f\u6b21\u306e\u5b50\u3069\u3082\u306b\u3082\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-24\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/bohring-opitz-syndrome-bos-asxl1-symptoms-management\/#Q4_BOS%E5%A7%BF%E5%8B%A2%E3%81%A8%E3%81%AF%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E7%8A%B6%E6%85%8B%E3%81%A7%E3%81%99%E3%81%8B%EF%BC%9F\" >Q4. BOS\u59ff\u52e2\u3068\u306f\u3069\u306e\u3088\u3046\u306a\u72b6\u614b\u3067\u3059\u304b\uff1f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-25\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/bohring-opitz-syndrome-bos-asxl1-symptoms-management\/#Q5_%E3%83%9C%E3%83%BC%E3%83%AA%E3%83%B3%E3%82%B0%E3%83%BB%E3%82%AA%E3%83%94%E3%83%83%E3%83%84%E7%97%87%E5%80%99%E7%BE%A4%E3%81%A8%E8%A8%BA%E6%96%AD%E3%81%95%E3%82%8C%E3%81%9F%E3%82%89%E3%80%81%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E6%A4%9C%E6%9F%BB%E3%81%8C%E5%BF%85%E8%A6%81%E3%81%A7%E3%81%99%E3%81%8B%EF%BC%9F\" >Q5. \u30dc\u30fc\u30ea\u30f3\u30b0\u30fb\u30aa\u30d4\u30c3\u30c4\u75c7\u5019\u7fa4\u3068\u8a3a\u65ad\u3055\u308c\u305f\u3089\u3001\u3069\u306e\u3088\u3046\u306a\u691c\u67fb\u304c\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-26\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/bohring-opitz-syndrome-bos-asxl1-symptoms-management\/#Q6_%E8%A8%BA%E6%96%AD%E5%BE%8C%E3%80%81%E3%81%94%E5%AE%B6%E6%97%8F%E3%81%AF%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E3%82%B5%E3%83%9D%E3%83%BC%E3%83%88%E3%82%92%E5%8F%97%E3%81%91%E3%82%89%E3%82%8C%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\" >Q6. \u8a3a\u65ad\u5f8c\u3001\u3054\u5bb6\u65cf\u306f\u3069\u306e\u3088\u3046\u306a\u30b5\u30dd\u30fc\u30c8\u3092\u53d7\u3051\u3089\u308c\u307e\u3059\u304b\uff1f<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-27\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/bohring-opitz-syndrome-bos-asxl1-symptoms-management\/#%E3%81%BE%E3%81%A8%E3%82%81%EF%BD%9C%E6%97%A9%E6%9C%9F%E8%A8%BA%E6%96%AD%E3%81%A8%E5%A4%9A%E8%81%B7%E7%A8%AE%E3%82%B1%E3%82%A2%E3%81%8CBOS%E3%81%AE%E8%82%B2%E5%85%90%E3%82%92%E6%94%AF%E3%81%88%E3%82%8B\" >\u307e\u3068\u3081\uff5c\u65e9\u671f\u8a3a\u65ad\u3068\u591a\u8077\u7a2e\u30b1\u30a2\u304cBOS\u306e\u80b2\u5150\u3092\u652f\u3048\u308b<\/a><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%83%9C%E3%83%BC%E3%83%AA%E3%83%B3%E3%82%B0%E3%83%BB%E3%82%AA%E3%83%94%E3%83%83%E3%83%84%E7%97%87%E5%80%99%E7%BE%A4BOS%E3%81%A8%E3%81%AF%EF%BD%9CASXL1%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%8C%E5%8E%9F%E5%9B%A0%E3%81%AE%E5%B8%8C%E5%B0%91%E7%96%BE%E6%82%A3\"><\/span>\u30dc\u30fc\u30ea\u30f3\u30b0\u30fb\u30aa\u30d4\u30c3\u30c4\u75c7\u5019\u7fa4(BOS)\u3068\u306f\uff5cASXL1\u907a\u4f1d\u5b50\u304c\u539f\u56e0\u306e\u5e0c\u5c11\u75be\u60a3<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u30dc\u30fc\u30ea\u30f3\u30b0\u30fb\u30aa\u30d4\u30c3\u30c4\u75c7\u5019\u7fa4(Bohring-Opitz syndrome\u3001\u4ee5\u4e0bBOS)\u306f\u3001ASXL1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u8d77\u3053\u308b\u3001\u5168\u8eab\u306e\u767a\u751f\u306b\u5f71\u97ff\u304c\u53ca\u3076\u5e0c\u5c11\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002<\/strong>1999\u5e74\u306bBohring\u3089\u304c\u5831\u544a\u3057\u3001\u4ee5\u524d\u306f\u300cOberklaid-Danks\u75c7\u5019\u7fa4\u300d\u3068\u547c\u3070\u308c\u305f\u6642\u671f\u3082\u3042\u308a\u307e\u3057\u305f\u3002\u73fe\u5728\u306f\u539f\u56e0\u907a\u4f1d\u5b50ASXL1\u304c\u540c\u5b9a\u3055\u308c\u3001\u72ec\u7acb\u3057\u305f\u75be\u60a3\u3068\u3057\u3066\u4f4d\u7f6e\u3065\u3051\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4e16\u754c\u7684\u306b\u307f\u3066\u3082\u5831\u544a\u4f8b\u306f\u3054\u304f\u5c11\u6570\u306b\u3068\u3069\u307e\u308b\u5e0c\u5c11\u75be\u60a3\u3067\u3001\u56fd\u5185\u3067\u3082\u8a3a\u7642\u306b\u3042\u305f\u3063\u305f\u3053\u3068\u306e\u3042\u308b\u533b\u5e2b\u306f\u9650\u3089\u308c\u307e\u3059\u3002<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/10140\/bohring-opitz-syndrome\" target=\"_blank\" rel=\"noopener\">\u7c73\u56fd\u56fd\u7acb\u885b\u751f\u7814\u7a76\u6240(NIH)\u306e\u5e0c\u5c11\u75be\u60a3\u60c5\u5831\u30bb\u30f3\u30bf\u30fc(GARD)<\/a>\u3067\u3082\u3001\u907a\u4f1d\u6027\u306e\u5e0c\u5c11\u75be\u60a3\u3068\u3057\u3066\u8a73\u3057\u3044\u60c5\u5831\u304c\u307e\u3068\u3081\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u79c1\u81ea\u8eab\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u73fe\u5834\u3067\u300c\u805e\u3044\u305f\u3053\u3068\u306e\u306a\u3044\u75c5\u540d\u3092\u544a\u3052\u3089\u308c\u3066\u6016\u3044\u300d\u3068\u3044\u3046\u3054\u76f8\u8ac7\u3092\u53d7\u3051\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u60c5\u5831\u304c\u5c11\u306a\u3044\u75be\u60a3\u307b\u3069\u3001\u6b63\u78ba\u306a\u4e00\u6b21\u60c5\u5831\u306b\u3042\u305f\u308b\u3053\u3068\u304c\u4e0d\u5b89\u3092\u3084\u308f\u3089\u3052\u308b\u8fd1\u9053\u3060\u3068\u611f\u3058\u3066\u3044\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%E3%81%AFASXL1%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AE%E5%A4%89%E7%95%B0%EF%BD%9C%E3%81%AA%E3%81%9C%E8%B5%B7%E3%81%93%E3%82%8B%E3%81%AE%E3%81%8B\"><\/span>\u539f\u56e0\u306fASXL1\u907a\u4f1d\u5b50\u306e\u5909\u7570\uff5c\u306a\u305c\u8d77\u3053\u308b\u306e\u304b<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>BOS\u306e\u4e3b\u306a\u539f\u56e0\u306f\u3001\u7b2c20\u67d3\u8272\u4f53(20q11.21)\u306b\u4f4d\u7f6e\u3059\u308bASXL1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3067\u3059\u3002<\/strong>\u591a\u304f\u306e\u5834\u5408\u3001\u4e21\u89aa\u304b\u3089\u306e\u907a\u4f1d\u3067\u306f\u306a\u304f\u3001\u53d7\u7cbe\u5375\u304c\u3067\u304d\u308b\u904e\u7a0b\u306a\u3069\u3067\u5076\u767a\u7684\u306b\u751f\u3058\u308b\u65b0\u751f\u7a81\u7136\u5909\u7570(de novo\u5909\u7570)\u306b\u3088\u3063\u3066\u8d77\u3053\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%82%A8%E3%83%94%E3%82%B8%E3%82%A7%E3%83%8D%E3%83%86%E3%82%A3%E3%82%AF%E3%82%B9%E3%82%92%E5%8F%B8%E3%82%8B%E9%81%BA%E4%BC%9D%E5%AD%90\"><\/span>\u30a8\u30d4\u30b8\u30a7\u30cd\u30c6\u30a3\u30af\u30b9\u3092\u53f8\u308b\u907a\u4f1d\u5b50<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>ASXL1\u30bf\u30f3\u30d1\u30af\u8cea\u306f\u3001\u30af\u30ed\u30de\u30c1\u30f3(\u67d3\u8272\u4f53\u3092\u69cb\u6210\u3059\u308b\u7269\u8cea)\u306e\u69cb\u9020\u3092\u8abf\u6574\u3059\u308b\u8907\u5408\u4f53PRC1\u30fbPRC2\u3068\u5354\u8abf\u3057\u3001\u907a\u4f1d\u5b50\u767a\u73fe\u306e\u300c\u30aa\u30f3\u30fb\u30aa\u30d5\u300d\u3092\u5207\u308a\u66ff\u3048\u308b\u5f79\u5272\u3092\u62c5\u3063\u3066\u3044\u307e\u3059\u3002\u3068\u304f\u306b\u80da\u767a\u751f\u3067\u91cd\u8981\u306aHox\u907a\u4f1d\u5b50\u7fa4\u306e\u5236\u5fa1\u306b\u95a2\u308f\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK481833\/\" target=\"_blank\" rel=\"noopener\">\u7c73\u56fd\u533b\u5b66\u56f3\u66f8\u9928\u306eGeneReviews(ASXL1\u95a2\u9023\u30dc\u30fc\u30ea\u30f3\u30b0\u30fb\u30aa\u30d4\u30c3\u30c4\u75c7\u5019\u7fa4)<\/a>\u3067\u306f\u3001BOS\u306e\u591a\u304f\u304cASXL1\u306e\u5207\u65ad\u578b\u5909\u7570(\u30ca\u30f3\u30bb\u30f3\u30b9\u5909\u7570\u3084\u30d5\u30ec\u30fc\u30e0\u30b7\u30d5\u30c8\u5909\u7570)\u306b\u3088\u3063\u3066\u751f\u3058\u308b\u3053\u3068\u304c\u89e3\u8aac\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u5909\u7570\u306b\u3088\u308a\u3001\u6b63\u5e38\u306a\u30a8\u30d4\u30b8\u30a7\u30cd\u30c6\u30a3\u30c3\u30af\u5236\u5fa1\u304c\u7834\u7dbb\u3059\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%BA%E4%BC%9D%E5%BD%A2%E5%BC%8F%E3%81%A8%E6%AC%A1%E3%81%AE%E3%81%8A%E5%AD%90%E3%81%95%E3%82%93%E3%81%B8%E3%81%AE%E5%86%8D%E7%99%BA%E3%83%AA%E3%82%B9%E3%82%AF\"><\/span>\u907a\u4f1d\u5f62\u5f0f\u3068\u6b21\u306e\u304a\u5b50\u3055\u3093\u3078\u306e\u518d\u767a\u30ea\u30b9\u30af<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>ASXL1\u306e\u5909\u75701\u3064\u3067\u75c7\u72b6\u304c\u73fe\u308c\u308b\u300c\u9855\u6027\u300d\u306e\u5f62\u5f0f\u3092\u3068\u308a\u307e\u3059\u304c\u3001\u307b\u3068\u3093\u3069\u304c\u5076\u767a\u7684\u306ade novo\u5909\u7570\u3067\u3059\u3002\u305d\u306e\u305f\u3081\u3001\u591a\u304f\u306e\u3054\u5bb6\u65cf\u3067\u306f\u6b21\u306e\u304a\u5b50\u3055\u3093\u3078\u306e\u518d\u767a\u30ea\u30b9\u30af\u306f\u9ad8\u304f\u306a\u3044\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u305f\u3060\u3057\u3001\u307e\u308c\u306b\u3054\u4e21\u89aa\u306e\u3069\u3061\u3089\u304b\u304c\u751f\u6b96\u7d30\u80de\u306e\u4e00\u90e8\u306b\u306e\u307f\u5909\u7570\u3092\u6301\u3064\u300c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mosaicism\/\">\u30e2\u30b6\u30a4\u30af<\/a>\u300d\u306e\u72b6\u614b\u3067\u3042\u308b\u30b1\u30fc\u30b9\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u300239\u4f8b\u3092\u5bfe\u8c61\u3068\u3057\u305f\u56fd\u969b\u7684\u306a\u60a3\u8005\u767b\u9332\u7814\u7a76\u3067\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mosaicism\/\">\u30e2\u30b6\u30a4\u30af<\/a>\u306e\u89aa\u3092\u6301\u3064\u3054\u5bb6\u65cf\u304c2\u7d44\u78ba\u8a8d\u3055\u308c\u307e\u3057\u305f(<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/36751885\/\" target=\"_blank\" rel=\"noopener\">Russell 2023, PubMed<\/a>)\u3002\u6b21\u306e\u304a\u5b50\u3055\u3093\u306e\u8a08\u753b\u3092\u8003\u3048\u308b\u969b\u306f\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u3054\u5bb6\u65cf\u3054\u3068\u306e\u72b6\u6cc1\u3092\u78ba\u8a8d\u3059\u308b\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-counseling\/\">\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u5185\u5bb9\u3084\u91cd\u8981\u6027\u306b\u3064\u3044\u3066<\/a>\u3082\u3042\u308f\u305b\u3066\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<p>\u306a\u304a\u3001ASXL1\u306e\u4f53\u7d30\u80de\u5909\u7570(\u751f\u307e\u308c\u305f\u5f8c\u306b\u4e00\u90e8\u306e\u7d30\u80de\u3060\u3051\u306b\u751f\u3058\u308b\u5909\u7570)\u306f\u3001\u9aa8\u9ac4\u7570\u5f62\u6210\u75c7\u5019\u7fa4\u306a\u3069\u8840\u6db2\u306e\u304c\u3093\u3067\u3082\u898b\u3064\u304b\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002BOS\u306f\u3053\u308c\u3068\u306f\u7570\u306a\u308a\u3001\u5168\u8eab\u306e\u7d30\u80de\u306b\u5909\u7570\u304c\u3042\u308b\u751f\u6b96\u7d30\u80de\u7cfb\u5217\u306e\u5909\u5316\u306b\u3088\u308b\u3082\u306e\u3067\u3059\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=\"%E4%B8%BB%E3%81%AA%E7%97%87%E7%8A%B6%E3%81%A8%E7%89%B9%E5%BE%B4%E7%9A%84%E3%81%AA%E6%89%80%E8%A6%8B%EF%BD%9CBOS%E5%A7%BF%E5%8B%A2%E3%81%A8%E9%A1%94%E3%81%A4%E3%81%8D\"><\/span>\u4e3b\u306a\u75c7\u72b6\u3068\u7279\u5fb4\u7684\u306a\u6240\u898b\uff5cBOS\u59ff\u52e2\u3068\u9854\u3064\u304d<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>BOS\u306e\u8a3a\u65ad\u306e\u624b\u304c\u304b\u308a\u3068\u306a\u308b\u306e\u306f\u3001\u72ec\u7279\u306e\u59ff\u52e2\u3068\u9854\u3064\u304d\u3001\u305d\u3057\u3066\u91cd\u3044\u767a\u9054\u306e\u9045\u308c\u3067\u3059\u3002<\/strong>\u4e0b\u8a18\u306e\u6240\u898b\u304c\u7d44\u307f\u5408\u308f\u3055\u308b\u3053\u3068\u3067\u3001\u81e8\u5e8a\u7684\u306b\u5f37\u304f\u7591\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A0BOS%E5%A7%BF%E5%8B%A2BOS_posture\"><\/span>\u2460BOS\u59ff\u52e2(BOS posture)<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>BOS\u59ff\u52e2\u306f\u3001\u6700\u3082\u7279\u5fb4\u7684\u306a\u8eab\u4f53\u6240\u898b\u3002\u4e73\u5150\u671f\u306b\u3068\u304f\u306b\u76ee\u7acb\u3061\u307e\u3059\u304c\u3001\u6210\u9577\u306b\u3068\u3082\u306a\u3063\u3066\u76ee\u7acb\u305f\u306a\u304f\u306a\u308b\u3053\u3068\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4e0a\u80a2\u306e\u80a2\u4f4d\uff1a<\/strong>\u8098\u3092\u66f2\u3052\u3066\u624b\u9996\u3092\u5f37\u304f\u5c48\u66f2\u3055\u305b\u3001\u5c3a\u5074(\u5c0f\u6307\u5074)\u306b\u50be\u3051\u305f\u307e\u307e\u3001\u8155\u3092\u5185\u5074\u306b\u5dfb\u304d\u8fbc\u3080\u3088\u3046\u306a\u72ec\u7279\u306e\u59ff\u52e2\u3092\u3068\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u80cc\u666f\u306b\u3042\u308b\u8981\u56e0\uff1a\u7b4b\u7dca\u5f35\u306e\u7570\u5e38(\u30b8\u30b9\u30c8\u30cb\u30a2\u69d8\u306e\u72b6\u614b)\u304c\u95a2\u308f\u3063\u3066\u3044\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A1%E7%89%B9%E5%BE%B4%E7%9A%84%E3%81%AA%E9%A1%94%E3%81%A4%E3%81%8D\"><\/span>\u2461\u7279\u5fb4\u7684\u306a\u9854\u3064\u304d<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u9854\u3064\u304d\u306b\u3082\u3044\u304f\u3064\u304b\u306e\u5171\u901a\u70b9\u304c\u898b\u3089\u308c\u307e\u3059\u3002\u3072\u3068\u3064\u305a\u3064\u3067\u306f\u5224\u65ad\u3067\u304d\u307e\u305b\u3093\u304c\u3001\u8907\u6570\u304c\u91cd\u306a\u308b\u3053\u3068\u304c\u8a3a\u65ad\u306e\u304d\u3063\u304b\u3051\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7709\u9593\u306e\u706b\u7114\u72b6\u6bcd\u6591\uff1a<\/strong>\u7709\u9593\u3084\u984d\u306b\u8d64\u3044\u3042\u3056(\u30dd\u30fc\u30c8\u30ef\u30a4\u30f3\u6bcd\u6591\u69d8\u306e\u75c7\u72b6)\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u5178\u578b\u7684\u3068\u3055\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u773c\u7403\u7a81\u51fa\u30fb\u4e21\u773c\u958b\u96e2\uff1a\u773c\u7aa9\u304c\u6d45\u304f\u76ee\u304c\u7a81\u51fa\u3057\u3066\u898b\u3048\u308b\u3001\u76ee\u3068\u76ee\u306e\u9593\u9694\u304c\u5e83\u304f\u898b\u3048\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u4e09\u89d2\u982d\u84cb\u30fb\u5c0f\u982d\u75c7\uff1a\u982d\u306e\u5f62\u3084\u5927\u304d\u3055\u306b\u7279\u5fb4\u304c\u307f\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u53e3\u84cb\u306e\u7570\u5e38\u30fb\u5c0f\u984e\u75c7\uff1a\u6442\u98df\u3084\u547c\u5438\u3001\u8a00\u8a9e\u767a\u9054\u306b\u5f71\u97ff\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u591a\u6bdb(Hirsutism)\uff1a\u984d\u3084\u80cc\u4e2d\u306e\u6bdb\u304c\u6fc3\u3044\u50be\u5411\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A2%E7%99%BA%E9%81%94%E3%83%BB%E6%91%82%E9%A3%9F%E3%83%BB%E7%A5%9E%E7%B5%8C%E7%97%87%E7%8A%B6\"><\/span>\u2462\u767a\u9054\u30fb\u6442\u98df\u30fb\u795e\u7d4c\u75c7\u72b6<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5916\u898b\u4e0a\u306e\u6240\u898b\u306b\u52a0\u3048\u3066\u3001\u5168\u8eab\u306e\u6a5f\u80fd\u9762\u306b\u3082\u91cd\u3044\u5f71\u97ff\u304c\u53ca\u3073\u307e\u3059\u3002\u3068\u304f\u306b\u6b21\u306e3\u70b9\u306f\u3001\u3054\u5bb6\u65cf\u306e\u65e5\u3005\u306e\u30b1\u30a2\u306b\u76f4\u7d50\u3059\u308b\u90e8\u5206\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u91cd\u5ea6\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\uff1a<\/strong>\u591a\u304f\u306e\u75c7\u4f8b\u3067\u8a00\u8a9e\u7372\u5f97\u304c\u96e3\u3057\u304f\u3001\u767a\u9054\u306e\u9045\u308c\u3082\u91cd\u3044\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6442\u98df\u306e\u56f0\u96e3\uff1a<\/strong>\u5f37\u3044\u5438\u555c\u4e0d\u5168\u3001\u91cd\u5ea6\u306e\u80c3\u98df\u9053\u9006\u6d41\u75c7(GERD)\u3001\u7e70\u308a\u8fd4\u3059\u5614\u5410\u304c\u307f\u3089\u308c\u3001\u4f53\u91cd\u304c\u5897\u3048\u306b\u304f\u3044\u300c\u767a\u80b2\u4e0d\u5168\u300d\u306b\u3064\u306a\u304c\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u96e3\u6cbb\u6027\u3066\u3093\u304b\u3093\uff1a<\/strong>\u4e73\u5150\u671f\u304b\u3089\u767a\u4f5c\u3092\u767a\u75c7\u3059\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u8133\u6ce2\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0\u3092\u542b\u3080\u7d99\u7d9a\u7684\u306a\u7ba1\u7406\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u75c7\u72b6\u306e\u7d44\u307f\u5408\u308f\u305b\u3068\u76ee\u5b89\u3092\u3001\u6b21\u306e\u8868\u306b\u6574\u7406\u3057\u307e\u3057\u305f\u3002\u3042\u304f\u307e\u3067\u4ee3\u8868\u7684\u306a\u6240\u898b\u3067\u3042\u308a\u3001\u73fe\u308c\u65b9\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<figure class=\"wp-block-table\"><table>\n<thead><tr><th>\u5206\u985e<\/th><th>\u4e3b\u306a\u6240\u898b<\/th><th>\u5099\u8003<\/th><\/tr><\/thead>\n<tbody>\n<tr><td>\u59ff\u52e2<\/td><td>\u8098\u5c48\u66f2\u30fb\u624b\u9996\u5c48\u66f2\u30fb\u5c3a\u5074\u504f\u4f4d(BOS\u59ff\u52e2)<\/td><td>\u4e73\u5150\u671f\u306b\u9855\u8457\u3002\u52a0\u9f62\u3067\u76ee\u7acb\u305f\u306a\u304f\u306a\u308b\u4f8b\u3082<\/td><\/tr>\n<tr><td>\u9854\u3064\u304d<\/td><td>\u7709\u9593\u306e\u706b\u7114\u72b6\u6bcd\u6591\u3001\u773c\u7403\u7a81\u51fa\u3001\u5c0f\u982d\u75c7\u3001\u5c0f\u984e\u75c7<\/td><td>\u8907\u6570\u306e\u7d44\u307f\u5408\u308f\u305b\u3067\u7591\u3044\u304c\u5f37\u307e\u308b<\/td><\/tr>\n<tr><td>\u767a\u9054<\/td><td>\u91cd\u5ea6<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3001\u8a00\u8a9e\u7372\u5f97\u306e\u56f0\u96e3<\/td><td>\u7642\u80b2\u30fb\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u652f\u63f4\u306e\u5bfe\u8c61<\/td><\/tr>\n<tr><td>\u6442\u98df\u30fb\u6d88\u5316<\/td><td>GERD\u3001\u5438\u555c\u4e0d\u5168\u3001\u767a\u80b2\u4e0d\u5168<\/td><td>\u80c3\u763b\u9020\u8a2d\u304c\u691c\u8a0e\u3055\u308c\u308b\u3053\u3068\u3082<\/td><\/tr>\n<tr><td>\u795e\u7d4c<\/td><td>\u96e3\u6cbb\u6027\u3066\u3093\u304b\u3093<\/td><td>\u8133\u6ce2\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0\u304c\u5fc5\u8981<\/td><\/tr>\n<tr><td>\u816b\u760d\u30ea\u30b9\u30af<\/td><td>\u30a6\u30a3\u30eb\u30e0\u30b9\u816b\u760d\u3001\u809d\u82bd\u816b\u306e\u5831\u544a\u3042\u308a<\/td><td>\u5b9a\u671f\u7684\u306a\u753b\u50cf\u691c\u67fb\u306b\u3088\u308b\u30b5\u30fc\u30d9\u30a4\u30e9\u30f3\u30b9\u304c\u63a8\u5968<\/td><\/tr>\n<\/tbody>\n<\/table><figcaption>\u30dc\u30fc\u30ea\u30f3\u30b0\u30fb\u30aa\u30d4\u30c3\u30c4\u75c7\u5019\u7fa4\u306e\u4e3b\u306a\u6240\u898b\u306e\u76ee\u5b89\u3002\u500b\u4eba\u5dee\u304c\u3042\u308a\u3001\u3059\u3079\u3066\u304c\u305d\u308d\u3046\u3068\u306f\u9650\u308a\u307e\u305b\u3093\u3002<\/figcaption><\/figure>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%A8%BA%E6%96%AD%E3%81%AE%E6%B5%81%E3%82%8C%EF%BD%9C%E8%87%A8%E5%BA%8A%E6%89%80%E8%A6%8B%E3%81%8B%E3%82%89%E9%81%BA%E4%BC%9D%E5%AD%90%E6%A4%9C%E6%9F%BB%E3%81%BE%E3%81%A7\"><\/span>\u8a3a\u65ad\u306e\u6d41\u308c\uff5c\u81e8\u5e8a\u6240\u898b\u304b\u3089\u907a\u4f1d\u5b50\u691c\u67fb\u307e\u3067<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>BOS\u306e\u8a3a\u65ad\u306f\u3001\u7279\u5fb4\u7684\u306a\u81e8\u5e8a\u6240\u898b\u306e\u78ba\u8a8d\u3068\u3001ASXL1\u907a\u4f1d\u5b50\u3092\u5bfe\u8c61\u3068\u3057\u305f\u907a\u4f1d\u5b50\u691c\u67fb\u306e\u7d44\u307f\u5408\u308f\u305b\u3067\u9032\u307f\u307e\u3059\u3002<\/strong>\u81e8\u5e8a\u7684\u306a\u7591\u3044\u3060\u3051\u3067\u78ba\u5b9a\u3055\u305b\u308b\u3053\u3068\u306f\u3067\u304d\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%87%A8%E5%BA%8A%E7%9A%84%E3%81%AB%E7%96%91%E3%81%86%E3%83%9D%E3%82%A4%E3%83%B3%E3%83%88\"><\/span>\u81e8\u5e8a\u7684\u306b\u7591\u3046\u30dd\u30a4\u30f3\u30c8<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6b21\u306e\u3088\u3046\u306a\u6240\u898b\u304c\u91cd\u306a\u308b\u5834\u5408\u3001BOS\u304c\u81e8\u5e8a\u7684\u306b\u5f37\u304f\u7591\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li>BOS\u59ff\u52e2\u306e\u5b58\u5728<\/li>\n\n\n\n<li>\u7709\u9593\u306e\u706b\u7114\u72b6\u6bcd\u6591<\/li>\n\n\n\n<li>\u91cd\u5ea6\u306e\u767a\u80b2\u4e0d\u5168\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a><\/li>\n\n\n\n<li>\u7279\u5fb4\u7684\u306a\u9854\u3064\u304d(\u773c\u7403\u7a81\u51fa\u3001\u5c0f\u984e\u75c7\u306a\u3069)<\/li>\n<\/ol>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%A2%BA%E5%AE%9A%E8%A8%BA%E6%96%AD%E3%81%AE%E3%81%9F%E3%82%81%E3%81%AE%E9%81%BA%E4%BC%9D%E5%AD%90%E6%A4%9C%E6%9F%BB\"><\/span>\u78ba\u5b9a\u8a3a\u65ad\u306e\u305f\u3081\u306e\u907a\u4f1d\u5b50\u691c\u67fb<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u78ba\u5b9a\u8a3a\u65ad\u306b\u306f\u3001ASXL1\u907a\u4f1d\u5b50\u3092\u6a19\u7684\u3068\u3057\u305f\u89e3\u6790\u3001\u307e\u305f\u306f\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790(WES)\u304c\u7528\u3044\u3089\u308c\u307e\u3059\u3002\u81e8\u5e8a\u6240\u898b\u304b\u3089BOS\u304c\u7591\u308f\u308c\u305f\u5834\u5408\u306b\u3001\u751f\u307e\u308c\u305f\u5f8c\u306e\u8840\u6db2\u306a\u3069\u3092\u7528\u3044\u3066\u5b9f\u65bd\u3055\u308c\u308b\u306e\u304c\u4e00\u822c\u7684\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%91%91%E5%88%A5%E3%81%8C%E5%BF%85%E8%A6%81%E3%81%AA%E7%96%BE%E6%82%A3\"><\/span>\u9451\u5225\u304c\u5fc5\u8981\u306a\u75be\u60a3<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u81e8\u5e8a\u50cf\u304c\u4f3c\u308b\u3053\u3068\u304b\u3089\u3001Cornelia de Lange\u75c7\u5019\u7fa4\u3084Shashi-Pena\u75c7\u5019\u7fa4\u306a\u3069\u304c\u9451\u5225\u5bfe\u8c61\u306b\u306a\u308a\u307e\u3059\u3002BOS\u59ff\u52e2\u306e\u6709\u7121\u304c\u3001\u898b\u5206\u3051\u308b\u624b\u304c\u304b\u308a\u306e\u3072\u3068\u3064\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3044\u305a\u308c\u3082\u30af\u30ed\u30de\u30c1\u30f3\u5236\u5fa1\u306b\u95a2\u308f\u308b\u907a\u4f1d\u5b50\u306e\u5909\u7570\u304c\u539f\u56e0\u3068\u3044\u3046\u5171\u901a\u70b9\u304c\u3042\u308a\u307e\u3059\u3002\u540c\u3058\u907a\u4f1d\u5b50\u7fa4\u306e\u75be\u60a3\u3068\u3057\u3066\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cornelia-de-lange-syndrome-3-smc3-genetics-mild-phenotype-guide\/\">Cornelia de Lange\u75c7\u5019\u7fa43(SMC3\u95a2\u9023)<\/a>\u306e\u89e3\u8aac\u3082\u3042\u308f\u305b\u3066\u3054\u89a7\u3044\u305f\u3060\u304f\u3068\u3001\u30af\u30ed\u30de\u30c1\u30f3\u7570\u5e38\u75c7\u5168\u4f53\u3078\u306e\u7406\u89e3\u304c\u6df1\u307e\u308a\u307e\u3059\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%9B%86%E5%AD%A6%E7%9A%84%E3%83%9E%E3%83%8D%E3%82%B8%E3%83%A1%E3%83%B3%E3%83%88%EF%BD%9C%E3%82%A6%E3%82%A3%E3%83%AB%E3%83%A0%E3%82%B9%E8%85%AB%E7%98%8D%E3%82%B5%E3%83%BC%E3%83%99%E3%82%A4%E3%83%A9%E3%83%B3%E3%82%B9%E3%82%92%E5%90%AB%E3%82%80%E7%AE%A1%E7%90%86\"><\/span>\u96c6\u5b66\u7684\u30de\u30cd\u30b8\u30e1\u30f3\u30c8\uff5c\u30a6\u30a3\u30eb\u30e0\u30b9\u816b\u760d\u30b5\u30fc\u30d9\u30a4\u30e9\u30f3\u30b9\u3092\u542b\u3080\u7ba1\u7406<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>BOS\u306f\u591a\u7cfb\u7d71\u306b\u5408\u4f75\u75c7\u304c\u53ca\u3076\u305f\u3081\u3001\u5c0f\u5150\u79d1\u533b\u3092\u4e2d\u5fc3\u3068\u3057\u305f\u8907\u6570\u79d1\u306e\u9023\u643a\u306b\u3088\u308b\u30b1\u30a2\u304c\u6b20\u304b\u305b\u307e\u305b\u3093\u3002<\/strong>\u8fd1\u5e74\u306f\u816b\u760d\u306e\u65e9\u671f\u767a\u898b\u3082\u3001\u7ba1\u7406\u306e\u5927\u5207\u306a\u67f1\u306e\u3072\u3068\u3064\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%91%82%E9%A3%9F%E3%83%BB%E5%91%BC%E5%90%B8%E3%81%AE%E7%AE%A1%E7%90%86\"><\/span>\u6442\u98df\u30fb\u547c\u5438\u306e\u7ba1\u7406<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u80c3\u763b(PEG)\u306e\u691c\u8a0e\uff1a<\/strong>\u7d4c\u53e3\u6442\u53d6\u304c\u96e3\u3057\u304f\u3001\u91cd\u5ea6\u306eGERD\u3092\u4f34\u3046\u5834\u5408\u3001\u65e9\u671f\u306e\u80c3\u763b\u9020\u8a2d\u3084\u5674\u9580\u5f62\u6210\u8853\u304c\u691c\u8a0e\u3055\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6c17\u9053\u7ba1\u7406\uff1a\u5c0f\u984e\u75c7\u306b\u3068\u3082\u306a\u3046\u9589\u585e\u6027\u7761\u7720\u6642\u7121\u547c\u5438\u3078\u306e\u5bfe\u5fdc\u304c\u5fc5\u8981\u306b\u306a\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%A5%9E%E7%B5%8C%E5%AD%A6%E7%9A%84%E3%82%B1%E3%82%A2%E3%81%A8%E7%99%82%E8%82%B2\"><\/span>\u795e\u7d4c\u5b66\u7684\u30b1\u30a2\u3068\u7642\u80b2<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u6297\u3066\u3093\u304b\u3093\u85ac\uff1a\u767a\u4f5c\u306e\u30bf\u30a4\u30d7\u306b\u5fdc\u3058\u305f\u85ac\u5264\u9078\u629e\u3068\u5b9a\u671f\u7684\u306a\u898b\u76f4\u3057\u304c\u884c\u308f\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u7642\u80b2(PT\/OT)\uff1aBOS\u59ff\u52e2\u306b\u4f34\u3046\u95a2\u7bc0\u62d8\u7e2e\u306e\u4e88\u9632\u3068\u3001\u308f\u305a\u304b\u306a\u610f\u601d\u8868\u793a\u3092\u6349\u3048\u308b\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u652f\u63f4(AAC\u6a5f\u5668\u306e\u6d3b\u7528\u306a\u3069)\u304c\u4e2d\u5fc3\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u304a\u5b50\u3055\u3093\u306e\u767a\u9054\u6bb5\u968e\u306b\u5fdc\u3058\u3066\u3001\u7642\u80b2\u306e\u5185\u5bb9\u306f\u5c11\u3057\u305a\u3064\u5909\u308f\u3063\u3066\u3044\u304d\u307e\u3059\u3002\u8a3a\u65ad\u304c\u3064\u3044\u305f\u5f8c\u306e\u7642\u80b2\u3084\u652f\u63f4\u306e\u8003\u3048\u65b9\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-positive-treatment-therapy-future\/\">\u77e5\u7684\u969c\u5bb3\u306e\u300c\u6cbb\u7642\u300d\u3068\u300c\u7642\u80b2\u300d\u306e\u6700\u524d\u7dda<\/a>\u3067\u3082\u53d6\u308a\u4e0a\u3052\u3066\u3044\u307e\u3059\u306e\u3067\u3001\u53c2\u8003\u306b\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%82%A6%E3%82%A3%E3%83%AB%E3%83%A0%E3%82%B9%E8%85%AB%E7%98%8D%E3%83%BB%E8%82%9D%E8%8A%BD%E8%85%AB%E3%81%AE%E3%82%B5%E3%83%BC%E3%83%99%E3%82%A4%E3%83%A9%E3%83%B3%E3%82%B9\"><\/span>\u30a6\u30a3\u30eb\u30e0\u30b9\u816b\u760d\u30fb\u809d\u82bd\u816b\u306e\u30b5\u30fc\u30d9\u30a4\u30e9\u30f3\u30b9<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>BOS\u3067\u306f\u3001\u814e\u81d3\u306b\u767a\u751f\u3059\u308b\u5c0f\u5150\u304c\u3093\u306e\u4e00\u7a2e\u3067\u3042\u308b\u30a6\u30a3\u30eb\u30e0\u30b9\u816b\u760d\u306e\u30ea\u30b9\u30af\u304c\u9ad8\u307e\u308b\u3053\u3068\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u300239\u4f8b\u306e\u60a3\u8005\u767b\u9332\u30c7\u30fc\u30bf\u3092\u5206\u6790\u3057\u305f2023\u5e74\u306e\u7814\u7a76\u3067\u306f\u3001\u30a6\u30a3\u30eb\u30e0\u30b9\u816b\u760d\u304c3\u4f8b\u3001\u809d\u82bd\u816b\u304c1\u4f8b\u3067\u78ba\u8a8d\u3055\u308c\u307e\u3057\u305f(<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/36751885\/\" target=\"_blank\" rel=\"noopener\">Russell 2023, PubMed<\/a>)\u3002\u3053\u306e\u7d50\u679c\u304b\u3089\u3001\u5b9a\u671f\u7684\u306a\u8179\u90e8\u8d85\u97f3\u6ce2\u691c\u67fb\u306b\u3088\u308b\u30b5\u30fc\u30d9\u30a4\u30e9\u30f3\u30b9\u306e\u91cd\u8981\u6027\u304c\u6307\u6458\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8a3a\u65ad\u304c\u3064\u3044\u305f\u3089\u3001\u62c5\u5f53\u533b\u3068\u76f8\u8ac7\u306e\u3046\u3048\u3001\u816b\u760d\u30b5\u30fc\u30d9\u30a4\u30e9\u30f3\u30b9\u306e\u30b9\u30b1\u30b8\u30e5\u30fc\u30eb\u3092\u500b\u5225\u306b\u6c7a\u3081\u3066\u3044\u304f\u3053\u3068\u306b\u306a\u308a\u307e\u3059\u3002\u767a\u4f5c\u3084\u8aa4\u56a5\u6027\u80ba\u708e\u306e\u4e88\u9632\u306b\u52a0\u3048\u3066\u3001\u3053\u306e\u816b\u760d\u30b5\u30fc\u30d9\u30a4\u30e9\u30f3\u30b9\u3082\u898b\u843d\u3068\u305b\u306a\u3044\u30dd\u30a4\u30f3\u30c8\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%94%E5%AE%B6%E6%97%8F%E3%81%B8%E3%81%AE%E6%94%AF%E6%8F%B4\"><\/span>\u3054\u5bb6\u65cf\u3078\u306e\u652f\u63f4<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u611f\u67d3\u75c7\u5bfe\u7b56\uff1a\u8aa4\u56a5\u6027\u80ba\u708e\u3092\u7e70\u308a\u8fd4\u3057\u3084\u3059\u3044\u305f\u3081\u3001\u65e5\u5e38\u7684\u306a\u6ce8\u610f\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5bb6\u65cf\u652f\u63f4\uff1a<\/strong>\u91cd\u3044\u969c\u5bb3\u3092\u62b1\u3048\u308b\u304a\u5b50\u3055\u3093\u306e\u3054\u5bb6\u65cf\u306b\u306f\u3001\u30ec\u30b9\u30d1\u30a4\u30c8\u30b1\u30a2\u3084\u5fc3\u7406\u7684\u30b5\u30dd\u30fc\u30c8\u306e\u63d0\u4f9b\u304c\u6975\u3081\u3066\u91cd\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2026\/01\/33782263_s-1.webp\" alt=\"\u5e0c\u5c11\u75be\u60a3\u306e\u304a\u5b50\u3055\u3093\u3092\u8a3a\u5bdf\u3059\u308b\u5c0f\u5150\u79d1\u533b\u7642\u306e\u30a4\u30e1\u30fc\u30b8\" class=\"wp-image-122284\"\/><\/figure><\/div>\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%BA%88%E5%BE%8C%E3%81%A8%E3%81%94%E5%AE%B6%E6%97%8F%E3%81%B8%EF%BD%9C%E6%97%A9%E6%9C%9F%E8%A8%BA%E6%96%AD%E3%81%8C%E6%94%AF%E3%81%88%E3%81%AB%E3%81%AA%E3%82%8B%E7%90%86%E7%94%B1\"><\/span>\u4e88\u5f8c\u3068\u3054\u5bb6\u65cf\u3078\uff5c\u65e9\u671f\u8a3a\u65ad\u304c\u652f\u3048\u306b\u306a\u308b\u7406\u7531<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>BOS\u306e\u4e88\u5f8c\u306f\u304b\u3064\u3066\u975e\u5e38\u306b\u53b3\u3057\u3044\u3068\u3055\u308c\u3066\u304d\u307e\u3057\u305f\u304c\u3001\u6804\u990a\u30fb\u547c\u5438\u7ba1\u7406\u306e\u9032\u6b69\u306b\u3088\u308a\u3001\u601d\u6625\u671f\u3084\u6210\u4eba\u671f\u307e\u3067\u6210\u9577\u3059\u308b\u4f8b\u304c\u5897\u3048\u3066\u3044\u307e\u3059\u3002<\/strong>\u305f\u3060\u3057\u3001\u75c7\u72b6\u306e\u91cd\u3055\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308a\u3001\u4e00\u5f8b\u306e\u898b\u901a\u3057\u306f\u7981\u7269\u3067\u3059\u3002<\/p>\n\n\n\n<p>ASXL1\u304c\u95a2\u308f\u308b\u30a8\u30d4\u30b8\u30a7\u30cd\u30c6\u30a3\u30c3\u30af\u306a\u7d4c\u8def\u306f\u3001\u304c\u3093\u7814\u7a76\u306e\u5206\u91ce\u3067\u3082\u6d3b\u767a\u306b\u8abf\u3079\u3089\u308c\u3066\u3044\u307e\u3059\u3002ASXL1\u306e\u5909\u7570\u304c\u5f15\u304d\u8d77\u3053\u3059\u5206\u5b50\u30ec\u30d9\u30eb\u306e\u5909\u5316\u306b\u3064\u3044\u3066\u3001Wnt(\u30a6\u30a3\u30f3\u30c8)\u30b7\u30b0\u30ca\u30eb\u4f1d\u9054\u7d4c\u8def\u306e\u7570\u5e38\u3092\u5831\u544a\u3057\u305f\u7814\u7a76\u3082\u3042\u308a\u307e\u3059(<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC10322691\/\" target=\"_blank\" rel=\"noopener\">Won 2023, PMC<\/a>)\u3002\u3053\u3046\u3057\u305f\u77e5\u898b\u304c\u3001\u5c06\u6765\u7684\u306a\u75c7\u72b6\u7de9\u548c\u306e\u30a2\u30d7\u30ed\u30fc\u30c1\u306b\u3064\u306a\u304c\u308b\u3053\u3068\u304c\u671f\u5f85\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5e0c\u5c11\u75be\u60a3\u306e\u8a3a\u7642\u3067\u79c1\u304c\u7e70\u308a\u8fd4\u3057\u611f\u3058\u308b\u306e\u306f\u3001\u60c5\u5831\u306e\u5c11\u306a\u3055\u305d\u306e\u3082\u306e\u304c\u3054\u5bb6\u65cf\u306e\u5b64\u7acb\u611f\u3092\u5f37\u3081\u3066\u3057\u307e\u3046\u3068\u3044\u3046\u73fe\u5b9f\u3067\u3059\u3002\u3060\u304b\u3089\u3053\u305d\u3001\u516c\u7684\u6a5f\u95a2\u3084\u5b66\u8853\u6587\u732e\u306b\u3082\u3068\u3065\u304f\u4e00\u6b21\u60c5\u5831\u3092\u3001\u308f\u304b\u308a\u3084\u3059\u3044\u5f62\u3067\u304a\u5c4a\u3051\u3059\u308b\u610f\u5473\u304c\u3042\u308b\u3068\u8003\u3048\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"NIPT%E3%81%A8%E5%8D%98%E4%B8%80%E9%81%BA%E4%BC%9D%E5%AD%90%E7%96%BE%E6%82%A3%EF%BD%9C%E9%80%9A%E5%B8%B8%E3%81%AE%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\"><\/span>NIPT\u3068\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\uff5c\u901a\u5e38\u306e\u51fa\u751f\u524d\u691c\u67fb\u3067\u308f\u304b\u308b\u3053\u3068<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u4e00\u822c\u7684\u306aNIPT(\u65b0\u578b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>)\u306f21\u30fb18\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/patau-syndrome\/\">13\u30c8\u30ea\u30bd\u30df\u30fc<\/a>\u306a\u3069\u67d3\u8272\u4f53\u6570\u306e\u5909\u5316\u3092\u8abf\u3079\u308b\u691c\u67fb\u3067\u3001BOS\u306e\u3088\u3046\u306a\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u306f\u901a\u5e38\u306e\u691c\u67fb\u5bfe\u8c61\u306b\u306f\u542b\u307e\u308c\u307e\u305b\u3093\u3002<\/strong>\u3053\u3053\u3067\u306f\u3001NIPT\u3068BOS\u306e\u3088\u3046\u306a\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u3068\u306e\u95a2\u4fc2\u3092\u6574\u7406\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>BOS\u306e\u539f\u56e0\u3068\u306a\u308bASXL1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306f\u3001\u3072\u3068\u3064\u306e\u907a\u4f1d\u5b50\u306e\u5909\u5316\u306b\u3088\u3063\u3066\u8d77\u3053\u308b\u3082\u306e\u3067\u3042\u308a\u3001\u67d3\u8272\u4f53\u306e\u6570\u3092\u8abf\u3079\u308b\u57fa\u672c\u7684\u306aNIPT\u3067\u306f\u691c\u51fa\u3067\u304d\u307e\u305b\u3093\u3002\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790(WES)\u3084\u5168\u30b2\u30ce\u30e0\u89e3\u6790(WGS)\u306a\u3069\u3001\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u307e\u3067\u5bfe\u8c61\u3092\u5e83\u3052\u305f\u691c\u67fb\u3082\u3042\u308a\u307e\u3059\u3002\u3053\u3046\u3057\u305f\u691c\u67fb\u3092\u9078\u629e\u3057\u305f\u5834\u5408\u3001\u7d50\u679c\u3068\u3057\u3066ASXL1\u306a\u3069\u306e\u907a\u4f1d\u5b50\u306e\u5909\u5316\u304c\u540c\u5b9a\u3055\u308c\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u51fa\u751f\u524d\u691c\u67fb\u5168\u4f53\u306e\u4f4d\u7f6e\u3065\u3051\u306b\u3064\u3044\u3066\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/prenatal-testing-nipt-results\/\">\u51fa\u751f\u524d\u8a3a\u65ad\u3067\u4f55\u304c\u308f\u304b\u308b\u306e\u304b\u3092\u89e3\u8aac\u3057\u305f\u8a18\u4e8b<\/a>\u3067\u6574\u7406\u3057\u3066\u3044\u307e\u3059\u3002\u67d3\u8272\u4f53\u306e\u5909\u5316\u3092\u78ba\u5b9a\u3055\u305b\u308b\u305f\u3081\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u306b\u3064\u3044\u3066\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u7f8a\u6c34\u691c\u67fb\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u6cd5\u306b\u3064\u3044\u3066\u306e\u89e3\u8aac<\/a>\u3082\u3042\u308f\u305b\u3066\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<p>\u691c\u67fb\u3067\u4f55\u304c\u308f\u304b\u308a\u3001\u4f55\u304c\u308f\u304b\u3089\u306a\u3044\u306e\u304b\u3092\u4e8b\u524d\u306b\u7406\u89e3\u3057\u3066\u304a\u304f\u3053\u3068\u306f\u3001\u7d50\u679c\u3092\u6b63\u3057\u304f\u53d7\u3051\u3068\u3081\u308b\u305f\u3081\u306e\u571f\u53f0\u306b\u306a\u308a\u307e\u3059\u3002\u691c\u67fb\u306e\u9078\u629e\u306b\u8ff7\u3046\u5834\u5408\u306f\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u3054\u81ea\u8eab\u306e\u72b6\u6cc1\u306b\u5408\u308f\u305b\u3066\u76f8\u8ac7\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<div style=\"text-align:center;margin:28px 0;\"><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/line-registration\/\" style=\"display:inline-block;padding:14px 30px;background:#06c755;color:#fff;border-radius:8px;text-decoration:none;font-weight:bold;\">LINE\u3067\u7121\u6599\u76f8\u8ac7\u3059\u308b\uff08\u691c\u67fb\u306b\u95a2\u3059\u308b\u7591\u554f\u3092\u304a\u6c17\u8efd\u306b\uff09<\/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%EF%BC%88FAQ%EF%BC%89\"><\/span>\u3088\u304f\u3042\u308b\u8cea\u554f\uff08FAQ\uff09<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q1_%E3%83%9C%E3%83%BC%E3%83%AA%E3%83%B3%E3%82%B0%E3%83%BB%E3%82%AA%E3%83%94%E3%83%83%E3%83%84%E7%97%87%E5%80%99%E7%BE%A4%E3%81%AF%E3%81%A9%E3%81%AE%E3%81%8F%E3%82%89%E3%81%84%E7%8F%8D%E3%81%97%E3%81%84%E7%97%85%E6%B0%97%E3%81%A7%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span>Q1. \u30dc\u30fc\u30ea\u30f3\u30b0\u30fb\u30aa\u30d4\u30c3\u30c4\u75c7\u5019\u7fa4\u306f\u3069\u306e\u304f\u3089\u3044\u73cd\u3057\u3044\u75c5\u6c17\u3067\u3059\u304b\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u4e16\u754c\u7684\u306b\u307f\u3066\u3082\u5831\u544a\u4f8b\u306f\u3054\u304f\u5c11\u6570\u306b\u3068\u3069\u307e\u308b\u5e0c\u5c11\u75be\u60a3\u3067\u3059\u3002\u56fd\u5185\u3067\u306e\u8a3a\u7642\u7d4c\u9a13\u304c\u3042\u308b\u533b\u5e2b\u3082\u9650\u3089\u308c\u3066\u304a\u308a\u3001GARD(\u7c73\u56fd\u56fd\u7acb\u885b\u751f\u7814\u7a76\u6240\u306e\u5e0c\u5c11\u75be\u60a3\u60c5\u5831\u30bb\u30f3\u30bf\u30fc)\u306a\u3069\u306e\u516c\u7684\u306a\u5e0c\u5c11\u75be\u60a3\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u306b\u60c5\u5831\u304c\u307e\u3068\u3081\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q2_%E9%80%9A%E5%B8%B8%E3%81%AENIPT%E3%81%A7%E3%83%9C%E3%83%BC%E3%83%AA%E3%83%B3%E3%82%B0%E3%83%BB%E3%82%AA%E3%83%94%E3%83%83%E3%83%84%E7%97%87%E5%80%99%E7%BE%A4%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>Q2. \u901a\u5e38\u306eNIPT\u3067\u30dc\u30fc\u30ea\u30f3\u30b0\u30fb\u30aa\u30d4\u30c3\u30c4\u75c7\u5019\u7fa4\u306f\u308f\u304b\u308a\u307e\u3059\u304b\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u57fa\u672c\u7684\u306a\u691c\u67fb\u5bfe\u8c61\u306b\u306f\u542b\u307e\u308c\u307e\u305b\u3093\u3002\u901a\u5e38\u306eNIPT\u306f21\u30fb18\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/patau-syndrome\/\">13\u30c8\u30ea\u30bd\u30df\u30fc<\/a>\u306a\u3069\u67d3\u8272\u4f53\u6570\u306e\u5909\u5316\u3092\u8abf\u3079\u308b\u691c\u67fb\u3067\u3059\u3002BOS\u306fASXL1\u3068\u3044\u3046\u5358\u4e00\u306e\u907a\u4f1d\u5b50\u306e\u5909\u7570\u304c\u539f\u56e0\u306e\u305f\u3081\u3001\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790(WES)\u306a\u3069\u5bfe\u8c61\u3092\u5e83\u3052\u305f\u691c\u67fb\u3067\u521d\u3081\u3066\u540c\u5b9a\u3055\u308c\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q3_ASXL1%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AE%E5%A4%89%E7%95%B0%E3%81%AF%E8%A6%AA%E3%81%8B%E3%82%89%E9%81%BA%E4%BC%9D%E3%81%97%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F%E6%AC%A1%E3%81%AE%E5%AD%90%E3%81%A9%E3%82%82%E3%81%AB%E3%82%82%E8%B5%B7%E3%81%93%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span>Q3. ASXL1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306f\u89aa\u304b\u3089\u907a\u4f1d\u3057\u307e\u3059\u304b\uff1f\u6b21\u306e\u5b50\u3069\u3082\u306b\u3082\u8d77\u3053\u308a\u307e\u3059\u304b\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u591a\u304f\u306f\u53d7\u7cbe\u5375\u306e\u6bb5\u968e\u306a\u3069\u3067\u5076\u767a\u7684\u306b\u751f\u3058\u308b\u65b0\u751f\u7a81\u7136\u5909\u7570(de novo\u5909\u7570)\u3067\u3042\u308a\u3001\u6b21\u306e\u304a\u5b50\u3055\u3093\u3078\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\u307e\u308c\u306b\u3054\u4e21\u89aa\u306e\u4e00\u65b9\u304c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mosaicism\/\">\u30e2\u30b6\u30a4\u30af<\/a>\u306e\u72b6\u614b\u3067\u3042\u308b\u4f8b\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u305f\u3081\u3001\u500b\u5225\u306e\u72b6\u6cc1\u306f\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=\"Q4_BOS%E5%A7%BF%E5%8B%A2%E3%81%A8%E3%81%AF%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E7%8A%B6%E6%85%8B%E3%81%A7%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span>Q4. BOS\u59ff\u52e2\u3068\u306f\u3069\u306e\u3088\u3046\u306a\u72b6\u614b\u3067\u3059\u304b\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8098\u3092\u66f2\u3052\u3001\u624b\u9996\u3092\u5f37\u304f\u5c48\u66f2\u3055\u305b\u3066\u5c3a\u5074(\u5c0f\u6307\u5074)\u306b\u50be\u3051\u3001\u8155\u3092\u5185\u5074\u306b\u5dfb\u304d\u8fbc\u3080\u3088\u3046\u306a\u72ec\u7279\u306e\u59ff\u52e2\u306e\u3053\u3068\u3067\u3059\u3002\u4e73\u5150\u671f\u306b\u3068\u304f\u306b\u76ee\u7acb\u3061\u3001BOS\u306e\u8a3a\u65ad\u306b\u304a\u3044\u3066\u6700\u3082\u7279\u5fb4\u7684\u306a\u8eab\u4f53\u6240\u898b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q5_%E3%83%9C%E3%83%BC%E3%83%AA%E3%83%B3%E3%82%B0%E3%83%BB%E3%82%AA%E3%83%94%E3%83%83%E3%83%84%E7%97%87%E5%80%99%E7%BE%A4%E3%81%A8%E8%A8%BA%E6%96%AD%E3%81%95%E3%82%8C%E3%81%9F%E3%82%89%E3%80%81%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E6%A4%9C%E6%9F%BB%E3%81%8C%E5%BF%85%E8%A6%81%E3%81%A7%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span>Q5. \u30dc\u30fc\u30ea\u30f3\u30b0\u30fb\u30aa\u30d4\u30c3\u30c4\u75c7\u5019\u7fa4\u3068\u8a3a\u65ad\u3055\u308c\u305f\u3089\u3001\u3069\u306e\u3088\u3046\u306a\u691c\u67fb\u304c\u5fc5\u8981\u3067\u3059\u304b\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8133\u6ce2\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0\u306b\u3088\u308b\u3066\u3093\u304b\u3093\u7ba1\u7406\u3084\u6442\u98df\u30fb\u547c\u5438\u306e\u8a55\u4fa1\u306b\u52a0\u3048\u3066\u3001\u30a6\u30a3\u30eb\u30e0\u30b9\u816b\u760d\u3084\u809d\u82bd\u816b\u306e\u30ea\u30b9\u30af\u306b\u5099\u3048\u305f\u5b9a\u671f\u7684\u306a\u8179\u90e8\u8d85\u97f3\u6ce2\u691c\u67fb\u306a\u3069\u3001\u816b\u760d\u30b5\u30fc\u30d9\u30a4\u30e9\u30f3\u30b9\u304c\u6b20\u304b\u305b\u307e\u305b\u3093\u3002\u62c5\u5f53\u533b\u3068\u76f8\u8ac7\u3057\u3001\u500b\u5225\u306e\u30b9\u30b1\u30b8\u30e5\u30fc\u30eb\u3092\u6c7a\u3081\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q6_%E8%A8%BA%E6%96%AD%E5%BE%8C%E3%80%81%E3%81%94%E5%AE%B6%E6%97%8F%E3%81%AF%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E3%82%B5%E3%83%9D%E3%83%BC%E3%83%88%E3%82%92%E5%8F%97%E3%81%91%E3%82%89%E3%82%8C%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span>Q6. \u8a3a\u65ad\u5f8c\u3001\u3054\u5bb6\u65cf\u306f\u3069\u306e\u3088\u3046\u306a\u30b5\u30dd\u30fc\u30c8\u3092\u53d7\u3051\u3089\u308c\u307e\u3059\u304b\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5c0f\u5150\u79d1\u533b\u3092\u4e2d\u5fc3\u3068\u3057\u305f\u8907\u6570\u79d1\u306e\u9023\u643a\u306b\u3088\u308b\u30b1\u30a2\u306b\u52a0\u3048\u3001\u7642\u80b2(PT\/OT)\u3084\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u652f\u63f4\u3082\u6b20\u304b\u305b\u307e\u305b\u3093\u3002\u30ec\u30b9\u30d1\u30a4\u30c8\u30b1\u30a2\u3084\u5fc3\u7406\u7684\u30b5\u30dd\u30fc\u30c8\u306a\u3069\u3001\u3054\u5bb6\u65cf\u5168\u4f53\u3092\u652f\u3048\u308b\u4f53\u5236\u3065\u304f\u308a\u3082\u5927\u5207\u3067\u3059\u3002\u307e\u305a\u306f\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u3001\u5229\u7528\u3067\u304d\u308b\u652f\u63f4\u306b\u3064\u3044\u3066\u76f8\u8ac7\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\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%97%A9%E6%9C%9F%E8%A8%BA%E6%96%AD%E3%81%A8%E5%A4%9A%E8%81%B7%E7%A8%AE%E3%82%B1%E3%82%A2%E3%81%8CBOS%E3%81%AE%E8%82%B2%E5%85%90%E3%82%92%E6%94%AF%E3%81%88%E3%82%8B\"><\/span>\u307e\u3068\u3081\uff5c\u65e9\u671f\u8a3a\u65ad\u3068\u591a\u8077\u7a2e\u30b1\u30a2\u304cBOS\u306e\u80b2\u5150\u3092\u652f\u3048\u308b<span 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