{"id":85407,"date":"2024-11-14T14:24:16","date_gmt":"2024-11-14T05:24:16","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/nablus-mask-like-facial-syndrome-nmlfs-22q11-2\/"},"modified":"2026-07-31T05:22:26","modified_gmt":"2026-07-30T20:22:26","slug":"nablus-mask-like-facial-syndrome-nmlfs-22q11-2","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/nablus-mask-like-facial-syndrome-nmlfs-22q11-2\/?lang=zh-hans","title":{"rendered":"\u30ca\u30d6\u30eb\u30b9\u4eee\u9762\u69d8\u9854\u75c7\u5019\u7fa4(NMLFS)\u3068\u6bdb\u9aea\u9f3b\u6307\u9aa8\u75c7\u5019\u7fa4\u306e\u9055\u3044"},"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>\u30ca\u30d6\u30eb\u30b9\u4eee\u9762\u69d8\u9854\u75c7\u5019\u7fa4\uff08NMLFS\uff09<\/strong>\u306f\u30018\u756a\u67d3\u8272\u4f53\u9577\u8155\u306e<strong>8q21.3\u301cq22.1\u9818\u57df<\/strong>\u304c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u3059\u308b\u3053\u3068\u3067\u8d77\u3053\u308b\u3001\u4e16\u754c\u306730\u4f8b\u306b\u6e80\u305f\u306a\u3044\u6975\u3081\u3066\u7a00\u306a\u5148\u5929\u6027\u75be\u60a3\u3067\u3059\u3002\u4eee\u9762\u3092\u3064\u3051\u305f\u3088\u3046\u306a\u7279\u5fb4\u7684\u306a\u9854\u7acb\u3061\u3068\u3001\u8efd\u5ea6\u304b\u3089\u4e2d\u7b49\u5ea6\u306e\u767a\u9054\u306e\u9045\u308c\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u75c7\u72b6\u306e\u51fa\u65b9\u306b\u306f\u5927\u304d\u306a\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059\u3002<\/p><p>\u3053\u306e\u75be\u60a3\u306f\u3001\u540d\u79f0\u3084\u67d3\u8272\u4f538\u756a\u3068\u3044\u3046\u5171\u901a\u70b9\u304b\u3089\u3001\u307e\u3063\u305f\u304f\u5225\u306e\u75be\u60a3\u3067\u3042\u308b<strong>\u6bdb\u9aea\u9f3b\u6307\u9aa8\u75c7\u5019\u7fa42\u578b\uff08TRPS2\uff09<\/strong>\u3068\u6df7\u540c\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u672c\u8a18\u4e8b\u3067\u306f\u4e21\u8005\u306e\u9055\u3044\u3092\u6574\u7406\u3057\u306a\u304c\u3089\u3001\u539f\u56e0\u30fb\u75c7\u72b6\u30fb\u8a3a\u65ad\u306e\u6d41\u308c\u3001\u305d\u3057\u3066NIPT\uff08\u65b0\u578b<a 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2rem;\"><p><strong>\u3053\u306e\u8a18\u4e8b\u3067\u308f\u304b\u308b\u3053\u3068<\/strong><\/p>\n<ul>\n<li>\u30ca\u30d6\u30eb\u30b9\u4eee\u9762\u69d8\u9854\u75c7\u5019\u7fa4\uff08NMLFS\uff09\u3068\u306f\u3069\u3093\u306a\u75be\u60a3\u304b\u3001\u3069\u306e\u304f\u3089\u3044\u7a00\u306a\u306e\u304b<\/li>\n<li>\u540d\u524d\u3084\u67d3\u8272\u4f538\u756a\u3068\u3044\u3046\u70b9\u3067\u6df7\u540c\u3055\u308c\u3084\u3059\u3044\u300c\u6bdb\u9aea\u9f3b\u6307\u9aa8\u75c7\u5019\u7fa42\u578b\uff08TRPS2\uff09\u300d\u3068\u306e\u9055\u3044<\/li>\n<li>\u7279\u5fb4\u7684\u306a\u9854\u7acb\u3061\u3084\u4f53\u306e\u75c7\u72b6\u3001\u767a\u9054\u9762\u3078\u306e\u5f71\u97ff\u3068\u500b\u4eba\u5dee<\/li>\n<li>\u539f\u56e0\u3068\u306a\u308b8q21.3\u301cq22.1\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u3068\u3001\u8a3a\u65ad\u306b\u4f7f\u308f\u308c\u308b\u691c\u67fb\u306e\u6d41\u308c<\/li>\n<li>NIPT\u3067\u308f\u304b\u308b\u7bc4\u56f2\u306e\u9650\u754c\u3068\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u306b\u3088\u308b\u78ba\u5b9a\u8a3a\u65ad\u30fb\u8cbb\u7528\u88dc\u52a9\u5236\u5ea6<\/li>\n<\/ul>\n<\/div>\n\n\n\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_86 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">\u76ee\u6b21<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nablus-mask-like-facial-syndrome-nmlfs-22q11-2\/?lang=zh-hans\/#%E5%BC%95%E7%94%A8%E6%96%87%E7%8C%AE\" >\u5f15\u7528\u6587\u732e<\/a><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%83%8A%E3%83%96%E3%83%AB%E3%82%B9%E4%BB%AE%E9%9D%A2%E6%A7%98%E9%A1%94%E7%97%87%E5%80%99%E7%BE%A4%EF%BC%88NMLFS%EF%BC%89%E3%81%A8%E3%81%AF\"><\/span>\u30ca\u30d6\u30eb\u30b9\u4eee\u9762\u69d8\u9854\u75c7\u5019\u7fa4\uff08NMLFS\uff09\u3068\u306f<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>NMLFS\u306f\u30018\u756a\u67d3\u8272\u4f53\u9577\u8155\u306e\u5fae\u5c0f\u306a\u6b20\u5931\u3067\u8d77\u3053\u308b\u6975\u3081\u3066\u7a00\u306a\u5148\u5929\u6027\u75be\u60a3<\/strong>\u3067\u3059\u3002\u540d\u79f0\u306f\u30012000\u5e74\u306b\u30e8\u30eb\u30c0\u30f3\u5ddd\u897f\u5cb8\u306e\u30ca\u30d6\u30eb\u30b9\u51fa\u8eab\u306e\u7537\u5150\u3067\u521d\u3081\u3066\u5831\u544a\u3055\u308c\u305f\u3053\u3068\u306b\u7531\u6765\u3057\u307e\u3059\u3002\u4eee\u9762\u3092\u3064\u3051\u305f\u3088\u3046\u306b\u8868\u60c5\u304c\u4e4f\u3057\u304f\u898b\u3048\u308b\u72ec\u7279\u306e\u9854\u7acb\u3061\u304c\u3001\u3082\u3063\u3068\u3082\u77e5\u3089\u308c\u305f\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p>2006\u5e74\u3001Shieh\u3089\u304c\u30a2\u30ec\u30a4\u6bd4\u8f03\u30b2\u30ce\u30e0\u30cf\u30a4\u30d6\u30ea\u30c0\u30a4\u30bc\u30fc\u30b7\u30e7\u30f3\u3092\u7528\u3044\u3066\u3001\u60a3\u80052\u540d\u306b\u5171\u901a\u3059\u308b\u7d044Mb\u306e\u6b20\u5931\u304c<strong>8q21.3\u301cq22.1\u9818\u57df<\/strong>\u306b\u3042\u308b\u3053\u3068\u3092\u7a81\u304d\u6b62\u3081\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<p>\u305d\u306e\u5f8c2009\u5e74\u306eRaas-Rothschild\u3089\u306e\u5831\u544a\u3067\u3001\u5171\u901a\u3057\u3066\u6b20\u3051\u3066\u3044\u308b\u4e2d\u5fc3\u9818\u57df\u306f2.78Mb\uff0893.56\u301c96.34Mb\u4ed8\u8fd1\uff09\u307e\u3067\u7d5e\u308a\u8fbc\u307e\u308c\u3066\u3044\u307e\u3059\u30022024\u5e74\u6642\u70b9\u3067\u3082\u3001\u6587\u732e\u306b\u6b63\u5f0f\u306b\u8a18\u9332\u3055\u308c\u305f\u75c7\u4f8b\u306f<strong>30\u4f8b\u306b\u6e80\u305f\u306a\u3044<\/strong>\u3068\u307f\u3089\u308c\u3001\u4e16\u754c\u7684\u306b\u3082\u5831\u544a\u4f8b\u306e\u3054\u304f\u5c11\u306a\u3044\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u79c1\u81ea\u8eab\u3001\u5e0c\u5c11\u306a\u67d3\u8272\u4f53\u75be\u60a3\u306e\u8a18\u4e8b\u3092\u6271\u3046\u4e2d\u3067\u3001\u75c7\u4f8b\u6570\u304c\u5c11\u306a\u3044\u75be\u60a3\u307b\u3069\u60c5\u5831\u306e\u53d6\u308a\u9055\u3048\u304c\u8d77\u3053\u308a\u3084\u3059\u3044\u3068\u611f\u3058\u3066\u304d\u307e\u3057\u305f\u3002\u5b9f\u969b\u306b\u672c\u8a18\u4e8b\u3082\u3001\u4ee5\u524d\u306f\u540d\u79f0\u3068\u67d3\u8272\u4f53\u756a\u53f7\u3060\u3051\u304c\u4f3c\u305f\u5225\u75be\u60a3\u306e\u89e3\u8aac\u304c\u6df7\u5728\u3057\u3066\u3044\u305f\u7d4c\u7def\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3060\u304b\u3089\u3053\u305d\u6b21\u306e\u7ae0\u3067\u306f\u3001\u307e\u305a\u7d1b\u3089\u308f\u3057\u3044\u75be\u60a3\u3068\u306e\u9055\u3044\u3092\u6574\u7406\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%90%8D%E5%89%8D%E3%81%8C%E4%BC%BC%E3%81%A6%E3%81%84%E3%82%8B%E7%96%BE%E6%82%A3%E3%81%A8%E3%81%AE%E9%81%95%E3%81%84%EF%BC%88%E6%AF%9B%E9%AB%AA%E9%BC%BB%E6%8C%87%E9%AA%A8%E7%97%87%E5%80%99%E7%BE%A42%E5%9E%8B%E3%83%BB22q112%E6%AC%A0%E5%A4%B1%E7%97%87%E5%80%99%E7%BE%A4%EF%BC%89\"><\/span>\u540d\u524d\u304c\u4f3c\u3066\u3044\u308b\u75be\u60a3\u3068\u306e\u9055\u3044\uff08\u6bdb\u9aea\u9f3b\u6307\u9aa8\u75c7\u5019\u7fa42\u578b\u30fb22q11.2\u6b20\u5931\u75c7\u5019\u7fa4\uff09<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>NMLFS\u3068\u6bdb\u9aea\u9f3b\u6307\u9aa8\u75c7\u5019\u7fa42\u578b\uff08TRPS2\uff09\u306f\u3001\u6b20\u5931\u3057\u3066\u3044\u308b\u67d3\u8272\u4f53\u9818\u57df\u3082\u81e8\u5e8a\u50cf\u3082\u7570\u306a\u308b\u5225\u306e\u75be\u60a3\u3067\u3059\u3002<\/strong>\u3069\u3061\u3089\u30828\u756a\u67d3\u8272\u4f53\u9577\u8155\u306e\u6b20\u5931\u3067\u8d77\u3053\u308b\u305f\u3081\u3001\u75c7\u4f8b\u5831\u544a\u3084\u89e3\u8aac\u8a18\u4e8b\u306e\u4e2d\u3067\u3057\u3070\u3057\u3070\u6df7\u540c\u3055\u308c\u307e\u3059\u3002\u4e21\u8005\u306e\u9055\u3044\u3092\u6b21\u306e\u8868\u306b\u6574\u7406\u3057\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<div style=\"overflow-x:auto;\"><table style=\"width:100%;border-collapse:collapse;\" border=\"1\"><thead><tr><th style=\"padding:8px;background:#f5f5f5;\">\u9805\u76ee<\/th><th style=\"padding:8px;background:#f5f5f5;\">\u30ca\u30d6\u30eb\u30b9\u4eee\u9762\u69d8\u9854\u75c7\u5019\u7fa4\uff08NMLFS\uff09<\/th><th style=\"padding:8px;background:#f5f5f5;\">\u6bdb\u9aea\u9f3b\u6307\u9aa8\u75c7\u5019\u7fa42\u578b\uff08TRPS2\uff09<\/th><\/tr><\/thead><tbody>\n<tr><td style=\"padding:8px;\">\u6b20\u5931\u9818\u57df<\/td><td style=\"padding:8px;\">8q21.3\u301cq22.1\uff08\u7d042.78\u301c4Mb\uff09<\/td><td style=\"padding:8px;\">8q23.3\u301cq24.13\uff08TRPS1\u30fbRAD21\u30fbEXT1\u3092\u542b\u3080\u5e83\u3044\u9818\u57df\uff09<\/td><\/tr>\n<tr><td style=\"padding:8px;\">\u4ee3\u8868\u7684\u306a\u9854\u8c8c<\/td><td style=\"padding:8px;\">\u4eee\u9762\u306e\u3088\u3046\u306a\u7121\u8868\u60c5\u3001\u773c\u77bc\u88c2\u72ed\u5c0f\u3001\u984d\u306e\u9006\u7acb\u3063\u305f\u751f\u3048\u969b<\/td><td style=\"padding:8px;\">\u4e38\u304f\u5927\u304d\u306a\u9f3b\u3001\u5e45\u5e83\u3044\u9f3b\u6881\u3001\u8584\u3044\u982d\u9aea<\/td><\/tr>\n<tr><td style=\"padding:8px;\">\u9aa8\u683c\u306e\u7279\u5fb4<\/td><td style=\"padding:8px;\">\u95a2\u7bc0\u62d8\u7e2e\u3001\u6307\u306e\u5f4e\u66f2\u3001\u7b4b\u7dca\u5f35\u4f4e\u4e0b<\/td><td style=\"padding:8px;\">\u591a\u767a\u6027\u9aa8\u8edf\u9aa8\u816b\u3001\u4f4e\u8eab\u9577\u3001\u77ed\u6307\u75c7<\/td><\/tr>\n<tr><td style=\"padding:8px;\">\u4e16\u754c\u306e\u5831\u544a\u4f8b<\/td><td style=\"padding:8px;\">30\u4f8b\u672a\u6e80<\/td><td style=\"padding:8px;\">TRPS\u30bf\u30a4\u30d71\u30fb2\u3092\u3042\u308f\u305b\u3066\u6570\u767e\u4f8b\u898f\u6a21<\/td><\/tr>\n<\/tbody><\/table><\/div>\n\n\n\n<p>\u4e21\u75be\u60a3\u306f\u300c8\u756a\u67d3\u8272\u4f53\u9577\u8155\u306e\u6b20\u5931\u300d\u3068\u3044\u3046\u5171\u901a\u70b9\u306f\u3042\u308b\u3082\u306e\u306e\u3001\u6b20\u5931\u3057\u3066\u3044\u308b\u5834\u6240\u3082\u73fe\u308c\u308b\u75c7\u72b6\u3082\u5225\u7269\u3067\u3059\u3002\u6bdb\u9aea\u9f3b\u6307\u9aa8\u75c7\u5019\u7fa42\u578b\u306b\u3064\u3044\u3066\u8a73\u3057\u304f\u77e5\u308a\u305f\u3044\u65b9\u306f\u3001\u5c02\u9580\u306e\u89e3\u8aac\u8a18\u4e8b\u3082\u3042\u308f\u305b\u3066\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/trps2-langer-giedion-syndrome\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u6bdb\u9aea\u30fb\u9f3b\u30fb\u6307\u7bc0\u75c7\u5019\u7fa4II\u578b\uff08TRPS2\uff09 <\/div>\n          <div class=\"blog-card-excerpt\">\u6bdb\u9aea\u30fb\u9f3b\u30fb\u6307\u7bc0\u75c7\u5019\u7fa4II\u578b\uff08TRPS2\u30fb\u30e9\u30f3\u30ac\u30fc\u30fb\u30ae\u30c7\u30aa\u30f3\u75c7\u5019\u7fa4\uff09\u306e\u75c7\u72b6\u3001\u539f\u56e0\u3001\u8a3a\u65ad\u3001\u6cbb\u7642\u6cd5\u3092\u8a73\u3057\u304f\u89e3\u8aac\u3057\u307e\u3059\u3002\u6bdb\u9aea\u3084\u9f3b\u306e\u7279\u5fb4\u3001\u591a\u767a\u6027\u5916\u9aa8\u816b...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<p>\u52a0\u3048\u3066\u3001NMLFS\u306f22q11.2\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u3082\u7121\u95a2\u4fc2\u3067\u3059\u300222q11.2\u6b20\u5931\u75c7\u5019\u7fa4\u306f22\u756a\u67d3\u8272\u4f53\u306b\u8d77\u56e0\u3059\u308b\u3001\u5fc3\u75be\u60a3\u3084\u53e3\u84cb\u88c2\u3092\u4f34\u3046\u3053\u3068\u306e\u591a\u3044\u5225\u306e\u75be\u60a3\u3067\u3001NIPT\u306e\u62e1\u5f35\u691c\u67fb\u306e\u5bfe\u8c61\u306b\u306a\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>22\u756a\u67d3\u8272\u4f53\u306e\u75be\u60a3\u3092\u304a\u63a2\u3057\u306e\u5834\u5408\u306f\u3001\u4e0b\u8a18\u306e\u8a18\u4e8b\u304c\u53c2\u8003\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/22q11-2-deletion-syndrome-distal-d-e-f\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">22q11.2 \u6b20\u5931\u75c7\u5019\u7fa4 (LCR22 B\/C-D) <\/div>\n          <div class=\"blog-card-excerpt\">22q11.2\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u3001\u767a\u9054\u9045\u5ef6\u3001\u514d\u75ab\u7570\u5e38\u3001\u5fc3\u81d3\u306e\u554f\u984c\u306a\u3069\u3092\u5f15\u304d\u8d77\u3053\u3059\u907a\u4f1d\u75be\u60a3\u3067\u3059\u3002\u65e9\u671f\u652f\u63f4\u3068\u9069\u5207\u306a\u533b\u7642\u306b\u3088\u308a\u751f\u6d3b\u306e\u8cea\u3092\u6539\u5584\u3067\u304d\u307e\u3059\u3002\r...<\/div>\n      <\/div>\n    <\/a>\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%EF%BC%9A%E9%A1%94%E7%AB%8B%E3%81%A1%E3%81%A8%E5%85%A8%E8%BA%AB%E3%81%AE%E7%89%B9%E5%BE%B4\"><\/span>\u4e3b\u306a\u75c7\u72b6\uff1a\u9854\u7acb\u3061\u3068\u5168\u8eab\u306e\u7279\u5fb4<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>NMLFS\u3067\u3082\u3063\u3068\u3082\u7279\u5fb4\u7684\u306a\u306e\u306f\u3001\u76ae\u819a\u306b\u5f35\u308a\u3068\u5149\u6ca2\u304c\u3042\u308b\u305f\u3081\u306b\u8868\u60c5\u304c\u4e4f\u3057\u304f\u898b\u3048\u308b\u300c\u4eee\u9762\u306e\u3088\u3046\u306a\u9854\u7acb\u3061\u300d<\/strong>\u3067\u3059\u3002\u305f\u3060\u3057\u3001\u9854\u7acb\u3061\u4ee5\u5916\u306b\u3082\u5168\u8eab\u306e\u3055\u307e\u3056\u307e\u306a\u90e8\u4f4d\u306b\u6240\u898b\u304c\u73fe\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"overflow-x:auto;\"><table style=\"width:100%;border-collapse:collapse;\" border=\"1\"><thead><tr><th style=\"padding:8px;background:#f5f5f5;\">\u9818\u57df<\/th><th style=\"padding:8px;background:#f5f5f5;\">\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u4e3b\u306a\u7279\u5fb4<\/th><\/tr><\/thead><tbody>\n<tr><td style=\"padding:8px;\">\u9854\u7acb\u3061<\/td><td style=\"padding:8px;\">\u773c\u77bc\u88c2\u72ed\u5c0f\u3001\u76ae\u819a\u306e\u5f35\u308a\u3068\u5149\u6ca2\u3001\u984d\u4e2d\u592e\u306e\u9006\u7acb\u3063\u305f\u751f\u3048\u969b\u3001\u5f13\u306a\u308a\u3067\u8584\u3044\u7709\u3001\u5e45\u5e83\u304f\u4e38\u3044\u9f3b\u5148\u3001\u9577\u3044\u4eba\u4e2d\u3001\u4e0b\u5507\u306e\u5916\u53cd\u3001\u5c0f\u3055\u3044\u984e\u3001\u8033\u306e\u5f62\u614b\u7570\u5e38<\/td><\/tr>\n<tr><td style=\"padding:8px;\">\u767a\u9054\u30fb\u795e\u7d4c<\/td><td style=\"padding:8px;\">\u904b\u52d5\u30fb\u8a00\u8a9e\u767a\u9054\u306e\u9045\u308c\u3001\u8efd\u5ea6\u304b\u3089\u4e2d\u7b49\u5ea6\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3001\u5c0f\u982d\u75c7<\/td><\/tr>\n<tr><td style=\"padding:8px;\">\u7b4b\u30fb\u9aa8\u683c<\/td><td style=\"padding:8px;\">\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3001\u95a2\u7bc0\u62d8\u7e2e\u3001\u6307\u306e\u5f4e\u66f2\uff08\u30ab\u30f3\u30d7\u30c8\u30c0\u30af\u30c6\u30a3\u30ea\u30fc\uff09<\/td><\/tr>\n<tr><td style=\"padding:8px;\">\u305d\u306e\u4ed6<\/td><td style=\"padding:8px;\">\u505c\u7559\u7cbe\u5de3\uff08\u7537\u5150\uff09\u3001\u9ad8\u53e3\u84cb\u3001\u6b6f\u5217\u7570\u5e38\u3001\u96e3\u8074\u3001\u660e\u308b\u304f\u4eba\u61d0\u3063\u3053\u3044\u6c17\u8cea<\/td><\/tr>\n<\/tbody><\/table><\/div>\n\n\n\n<p>\u75c7\u72b6\u306e\u73fe\u308c\u65b9\u306b\u306f\u5927\u304d\u306a\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059\u3002Raas-Rothschild\u3089\u306e\u5831\u544a\u3067\u306f\u3001\u5178\u578b\u7684\u306a\u300c\u4eee\u9762\u69d8\u300d\u306e\u9854\u7acb\u3061\u304c\u306f\u3063\u304d\u308a\u78ba\u8a8d\u3055\u308c\u305f\u306e\u306f\u75c7\u4f8b\u306e\u534a\u6570\u7a0b\u5ea6\u306b\u3068\u3069\u307e\u308a\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<p>\u660e\u308b\u304f\u7a4f\u3084\u304b\u306a\u6c17\u8cea\u306f\u591a\u304f\u306e\u5831\u544a\u306b\u5171\u901a\u3059\u308b\u6240\u898b\u3067\u3059\u3002\u305f\u3060\u3057\u3001\u3053\u306e\u6c17\u8cea\u306f\u4e3b\u89b3\u7684\u306a\u5370\u8c61\u306b\u5de6\u53f3\u3055\u308c\u3084\u3059\u304f\u3001<strong>\u8a3a\u65ad\u306e\u6c7a\u3081\u624b\u306b\u306f\u306a\u308a\u307e\u305b\u3093<\/strong>\u3002\u8868\u60c5\u306e\u4e4f\u3057\u3055\u3068\u6df7\u540c\u3057\u306a\u3044\u3088\u3046\u3001\u5207\u308a\u5206\u3051\u3066\u6349\u3048\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/23126170_s.jpg\" alt=\"\u767a\u9054\u652f\u63f4\u3092\u53d7\u3051\u308b\u5b50\u3069\u3082\" class=\"wp-image-89725\"\/><\/figure><\/div>\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%8E%9F%E5%9B%A0%E3%81%A8%E3%81%AA%E3%82%8B8q213%E3%80%9Cq221%E3%81%AE%E5%BE%AE%E5%B0%8F%E6%AC%A0%E5%A4%B1\"><\/span>\u539f\u56e0\u3068\u306a\u308b8q21.3\u301cq22.1\u306e\u5fae\u5c0f\u6b20\u5931<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>NMLFS\u306e\u539f\u56e0\u306f\u30018\u756a\u67d3\u8272\u4f53\u9577\u8155\u306e8q21.3\u301cq22.1\u9818\u57df\u304c\u6b20\u3051\u308b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a><\/strong>\u3060\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002Raas-Rothschild\u3089\u306e\u7814\u7a76\u3067\u3001\u8907\u6570\u75c7\u4f8b\u306b\u5171\u901a\u3059\u308b\u4e2d\u5fc3\u9818\u57df\u306f2.78Mb\uff0893.56\u301c96.34Mb\u4ed8\u8fd1\uff09\u307e\u3067\u7d5e\u308a\u8fbc\u307e\u308c\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<p>\u5019\u88dc\u907a\u4f1d\u5b50\u3068\u3057\u3066FAM92A1\u304c\u6319\u3052\u3089\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u75c7\u72b6\u3092\u6c7a\u5b9a\u3065\u3051\u308b\u5358\u4e00\u306e\u907a\u4f1d\u5b50\u306f\u307e\u3060\u7279\u5b9a\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u8208\u5473\u6df1\u3044\u3053\u3068\u306b\u30012010\u5e74\u306bJain\u3089\u304c\u5831\u544a\u3057\u305f\u75c7\u4f8b\u3067\u306f\u3001\u65e2\u77e5\u306e\u75c7\u4f8b\u3068\u91cd\u306a\u308b8q22.1\u9818\u57df\u306e1.6Mb\u6b20\u5931\u3092\u6301\u3064\u5b50\u3069\u3082\u306b\u3001NMLFS\u306b\u7279\u6709\u306e\u9854\u7acb\u3061\u304c\u307f\u3089\u308c\u307e\u305b\u3093\u3067\u3057\u305f\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u5831\u544a\u306f\u3001<strong>\u6b20\u5931\u304c\u3042\u308b\u3060\u3051\u3067\u306fNMLFS\u306e\u8868\u73fe\u578b\u304c\u305d\u308d\u3046\u3068\u306f\u9650\u3089\u306a\u3044<\/strong>\u3053\u3068\u3092\u793a\u3057\u3066\u3044\u307e\u3059\u3002\u540c\u3058\u5834\u6240\u306e\u6b20\u5931\u3067\u3082\u3001\u4ed6\u306e\u907a\u4f1d\u7684\u30fb\u74b0\u5883\u7684\u8981\u56e0\u304c\u91cd\u306a\u3063\u3066\u521d\u3081\u3066\u7279\u5fb4\u7684\u306a\u75c7\u72b6\u304c\u73fe\u308c\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u308b\u306e\u3067\u3059\u3002\u6c7a\u3081\u624b\u306f\u6b20\u5931\u306e\u6709\u7121\u3060\u3051\u3067\u306f\u306a\u304f\u3001\u8907\u6570\u8981\u56e0\u306e\u91cd\u306a\u308a\u3002<\/p>\n\n\n\n<p>\u591a\u304f\u306e\u75c7\u4f8b\u306f\u3001\u4e21\u89aa\u304b\u3089\u53d7\u3051\u7d99\u3044\u3060\u3082\u306e\u3067\u306f\u306a\u304f\u3001\u305d\u306e\u5b50\u3067\u65b0\u3057\u304f\u8d77\u3053\u3063\u305f\u5909\u5316\uff08\u30c7\u30ce\u30dc\u5909\u7570\uff09\u3067\u3059\u3002\u3054\u304f\u307e\u308c\u306b\u89aa\u304b\u3089\u4f1d\u308f\u3063\u305f\u3068\u307f\u3089\u308c\u308b\u5bb6\u7cfb\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u907a\u4f1d\u306e\u4f1d\u308f\u308a\u65b9\u3084\u6b21\u306e\u304a\u5b50\u3055\u307e\u3078\u306e\u5f71\u97ff\u306b\u3064\u3044\u3066\u306f\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u500b\u5225\u306b\u78ba\u8a8d\u3059\u308b\u3053\u3068\u304c\u671b\u307e\u3057\u3044\u3067\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<p>NMLFS\u306e\u539f\u56e0\u3068\u75c7\u72b6\u306e\u95a2\u4fc2\u306b\u3064\u3044\u3066\u3001\u3055\u3089\u306b\u8a73\u3057\u3044\u89e3\u8aac\u306f\u95a2\u9023\u8a18\u4e8b\u3082\u3042\u308f\u305b\u3066\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/nablus-mask-like-facial-syndrome-overview\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u30ca\u30d6\u30eb\u30b9\u4eee\u9762\u69d8\u9854\u75c7\u5019\u7fa4\uff08NMLFS; Nablus mask-like facial syndrome\uff09 <\/div>\n          <div class=\"blog-card-excerpt\">\u30ca\u30d6\u30eb\u30b9\u4eee\u9762\u69d8\u9854\u75c7\u5019\u7fa4\u306f\u3001\u9854\u8c8c\u7570\u5e38\u3084\u767a\u9054\u9045\u6ede\u3092\u4f34\u3046\u975e\u5e38\u306b\u7a00\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002\u6700\u65b0\u306e\u75c7\u4f8b\u30fb\u8a3a\u65ad\u65b9\u6cd5\u30fb\u30b1\u30a2\u4f53\u5236\u3092\u308f\u304b\u308a\u3084\u3059\u304f\u7d39\u4ecb\u3057\u307e\u3059\u3002\uff5c\u30d2\u30ed\u30af...<\/div>\n      <\/div>\n    <\/a>\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%E3%81%A8NIPT%E3%81%A7%E3%82%8F%E3%81%8B%E3%82%8B%E7%AF%84%E5%9B%B2%E3%81%AE%E9%99%90%E7%95%8C\"><\/span>\u8a3a\u65ad\u306e\u6d41\u308c\u3068NIPT\u3067\u308f\u304b\u308b\u7bc4\u56f2\u306e\u9650\u754c<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>NMLFS\u306e\u78ba\u5b9a\u8a3a\u65ad\u306b\u306f\u3001\u67d3\u8272\u4f53\u306e\u5fae\u5c0f\u306a\u5909\u5316\u3092\u3068\u3089\u3048\u3089\u308c\u308b\u5c02\u9580\u7684\u306a\u691c\u67fb\u304c\u5fc5\u8981<\/strong>\u3067\u3059\u3002\u51fa\u751f\u5f8c\u3067\u3042\u308c\u3070\u3001\u30b3\u30d4\u30fc\u6570\u306e\u5897\u6e1b\u3092\u7db2\u7f85\u7684\u306b\u8abf\u3079\u308b\u67d3\u8272\u4f53<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u691c\u67fb\u304c\u4ee3\u8868\u7684\u306a\u65b9\u6cd5\u3068\u3057\u3066\u4f7f\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u51fa\u751f\u524d\u306e\u6bb5\u968e\u3067\u306f\u3001\u307e\u305a\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u6210\u9577\u306e\u9045\u308c\u3084\u9aa8\u683c\u306e\u6240\u898b\u304c\u898b\u3064\u304b\u308a\u3001\u7cbe\u5bc6\u691c\u67fb\u306b\u3064\u306a\u304c\u308b\u30b1\u30fc\u30b9\u304c\u591a\u304f\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u3053\u3067\u62bc\u3055\u3048\u3066\u304a\u304d\u305f\u3044\u306e\u304c\u3001NIPT\u3067\u308f\u304b\u308b\u7bc4\u56f2\u3068\u306e\u9055\u3044\u3067\u3059\u3002\u4e00\u822c\u7684\u306aNIPT\u306f21\u30fb18\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/patau-syndrome\/\">13\u30c8\u30ea\u30bd\u30df\u30fc<\/a>\u3092\u4e2d\u5fc3\u3068\u3057\u305f\u7279\u5b9a\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosomal-abnormality\/\">\u67d3\u8272\u4f53\u7570\u5e38<\/a>\u306e\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3092\u76ee\u7684\u3068\u3057\u3066\u304a\u308a\u3001<strong>8q21.3\u301cq22.1\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u306f\u901a\u5e38\u306e\u691c\u67fb\u5bfe\u8c61\u306b\u542b\u307e\u308c\u307e\u305b\u3093<\/strong>\u3002<\/p>\n\n\n\n<p>\u4e00\u90e8\u306e\u62e1\u5f35NIPT\u3067\u306f\u4e3b\u8981\u306a<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u75c7\u5019\u7fa4\u3092\u691c\u51fa\u3067\u304d\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u304c\u3001NMLFS\u306e\u3088\u3046\u306a\u6975\u3081\u3066\u7a00\u306a<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u307e\u3067\u7db2\u7f85\u3057\u3066\u3044\u308b\u308f\u3051\u3067\u306f\u306a\u3044\u306e\u304c\u5b9f\u60c5\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u305d\u306e\u305f\u3081\u3001NIPT\u3067\u967d\u6027\u6240\u898b\u304c\u51fa\u305f\u5834\u5408\u306f\u3082\u3061\u308d\u3093\u3001\u8d85\u97f3\u6ce2\u691c\u67fb\u306a\u3069\u3067\u6c17\u306b\u306a\u308b\u6240\u898b\u304c\u898b\u3064\u304b\u3063\u305f\u5834\u5408\u306b\u3082\u3001\u78ba\u5b9a\u8a3a\u65ad\u306b\u306f<strong><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a><\/strong>\u304c\u5fc5\u8981\u306b\u306a\u308a\u307e\u3059\u3002NIPT\u306f\u3042\u304f\u307e\u3067\u975e\u78ba\u5b9a\u7684\u306a\u691c\u67fb\u3067\u3042\u308a\u3001\u6700\u7d42\u7684\u306a\u8a3a\u65ad\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u306a\u3069\u306e\u4fb5\u8972\u7684\u691c\u67fb\u3067\u884c\u3063\u3066\u304f\u3060\u3055\u3044\u3002\u78ba\u5b9a\u8a3a\u65ad\u306e\u30ab\u30ae\u3092\u63e1\u308b\u306e\u306f\u3001\u3042\u304f\u307e\u3067<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%BE%8A%E6%B0%B4%E6%A4%9C%E6%9F%BB%E3%81%AE%E8%B2%BB%E7%94%A8%E8%A3%9C%E5%8A%A9%E3%81%A8%E3%83%92%E3%83%AD%E3%82%AF%E3%83%AA%E3%83%8B%E3%83%83%E3%82%AFNIPT%E3%81%AE%E3%82%B5%E3%83%9D%E3%83%BC%E3%83%88\"><\/span>\u7f8a\u6c34\u691c\u67fb\u306e\u8cbb\u7528\u88dc\u52a9\u3068\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30afNIPT\u306e\u30b5\u30dd\u30fc\u30c8<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>NIPT\u3084\u8d85\u97f3\u6ce2\u691c\u67fb\u306e\u7d50\u679c\u3092\u53d7\u3051\u3066<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u306b\u9032\u3080\u5834\u5408\u3001\u7d4c\u6e08\u7684\u306a\u8ca0\u62c5\u3092\u5fc3\u914d\u3055\u308c\u308b\u65b9\u306f\u5c11\u306a\u304f\u3042\u308a\u307e\u305b\u3093\u3002\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30afNIPT\u3067\u306f\u3001\u691c\u67fb\u30d7\u30e9\u30f3\u306b\u5fdc\u3058\u305f<strong><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u8cbb\u7528\u88dc\u52a9\u5236\u5ea6<\/strong>\u3092\u7528\u610f\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"overflow-x:auto;\"><table style=\"width:100%;border-collapse:collapse;\" border=\"1\"><thead><tr><th style=\"padding:8px;background:#f5f5f5;\">\u691c\u67fb\u30d7\u30e9\u30f3<\/th><th style=\"padding:8px;background:#f5f5f5;\">\u6599\u91d1<\/th><th style=\"padding:8px;background:#f5f5f5;\"><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u8cbb\u7528\u88dc\u52a9\uff08\u4e0a\u9650\uff09<\/th><\/tr><\/thead><tbody>\n<tr><td style=\"padding:8px;\">\u30e9\u30a4\u30c8\u30d7\u30e9\u30f3<\/td><td style=\"padding:8px;\">3,300\u5186<\/td><td style=\"padding:8px;\">\u6700\u592710\u4e07\u5186<\/td><\/tr>\n<tr><td style=\"padding:8px;\">\u30b9\u30bf\u30f3\u30c0\u30fc\u30c9\u30d7\u30e9\u30f3<\/td><td style=\"padding:8px;\">5,500\u5186<\/td><td style=\"padding:8px;\">\u6700\u592720\u4e07\u5186<\/td><\/tr>\n<tr><td style=\"padding:8px;\">\u30ef\u30a4\u30c9\u30d7\u30e9\u30f3<\/td><td style=\"padding:8px;\">11,000\u5186<\/td><td style=\"padding:8px;\">\u6700\u592730\u4e07\u5186<\/td><\/tr>\n<\/tbody><\/table><\/div>\n\n\n\n<p>\u3053\u306e\u88dc\u52a9\u5236\u5ea6\u306f\u3001NIPT\u306e\u7d50\u679c\u3060\u3051\u3067\u4e0d\u5b89\u3092\u62b1\u3048\u8fbc\u307e\u305a\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u78ba\u5b9a\u8a3a\u65ad\u307e\u3067\u9032\u307f\u3084\u3059\u304f\u3059\u308b\u3053\u3068\u3092\u76ee\u7684\u3068\u3057\u3066\u3044\u307e\u3059\u3002\u3054\u81ea\u8eab\u306b\u5408\u3063\u305f\u30d7\u30e9\u30f3\u9078\u3073\u306b\u8ff7\u3046\u5834\u5408\u306f\u3001\u307e\u305a\u7121\u6599\u76f8\u8ac7\u3092\u5229\u7528\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<div class=\"wp-block-buttons is-content-justification-center is-layout-flex wp-container-core-buttons-is-layout-16018d1d wp-block-buttons-is-layout-flex\">\n<div class=\"wp-block-button\"><a class=\"wp-block-button__link wp-element-button\" href=\"https:\/\/mypage-nipt-reservation.hiro-clinic.or.jp\/registration\" target=\"_blank\" rel=\"noopener\">NIPT\u65b0\u898f\u4e88\u7d04\u306f\u3053\u3061\u3089<\/a><\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%B2%BB%E7%99%82%E3%83%BB%E7%99%82%E8%82%B2%E3%81%A8%E5%B0%86%E6%9D%A5%E3%81%AE%E8%A6%8B%E9%80%9A%E3%81%97\"><\/span>\u6cbb\u7642\u30fb\u7642\u80b2\u3068\u5c06\u6765\u306e\u898b\u901a\u3057<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>NMLFS\u306b\u5bfe\u3059\u308b<strong>\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u78ba\u7acb\u3055\u308c\u3066\u304a\u3089\u305a<\/strong>\u3001\u75c7\u72b6\u306b\u3042\u308f\u305b\u305f\u30b5\u30dd\u30fc\u30c8\u30b1\u30a2\u304c\u57fa\u672c\u306b\u306a\u308a\u307e\u3059\u3002\u767a\u9054\u306e\u9045\u308c\u306b\u5bfe\u3057\u3066\u306f\u3001\u65e9\u671f\u304b\u3089\u306e\u7642\u80b2\u3084\u8a00\u8a9e\u8a13\u7df4\u304c\u6709\u52b9\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u95a2\u7bc0\u62d8\u7e2e\u3084\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u306b\u306f\u3001\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u5c02\u9580\u533b\u3084\u6574\u5f62\u5916\u79d1\u533b\u306b\u3088\u308b\u5b9a\u671f\u7684\u306a\u30d5\u30a9\u30ed\u30fc\u304c\u5fc5\u8981\u3067\u3059\u3002\u773c\u77bc\u88c2\u72ed\u5c0f\u306a\u3069\u306e\u773c\u79d1\u7684\u6240\u898b\u3084\u96e3\u8074\u304c\u7591\u308f\u308c\u308b\u5834\u5408\u306f\u3001\u773c\u79d1\u30fb\u8033\u9f3b\u79d1\u3067\u306e\u65e9\u671f\u8a55\u4fa1\u3082\u6b20\u304b\u305b\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u79c1\u304c\u3053\u308c\u307e\u3067\u898b\u3066\u304d\u305f\u5e0c\u5c11\u75be\u60a3\u306e\u8a18\u4e8b\u306b\u5171\u901a\u3059\u308b\u306e\u306f\u3001\u5c0f\u5150\u79d1\u533b\u30fb\u6574\u5f62\u5916\u79d1\u533b\u30fb\u8a00\u8a9e\u8074\u899a\u58eb\u306a\u3069\u8907\u6570\u306e\u5c02\u9580\u8077\u304c\u9023\u643a\u3059\u308b\u4f53\u5236\u304c\u3001\u751f\u6d3b\u306e\u8cea\u3092\u5927\u304d\u304f\u5de6\u53f3\u3059\u308b\u3068\u3044\u3046\u70b9\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u75c7\u4f8b\u304b\u3089\u306f\u3001\u751f\u547d\u4e88\u5f8c\u305d\u306e\u3082\u306e\u304c\u5927\u304d\u304f\u640d\u306a\u308f\u308c\u308b\u3068\u3044\u3046\u77e5\u898b\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u767a\u9054\u3084\u904b\u52d5\u9762\u306e\u8ab2\u984c\u306b\u65e9\u671f\u304b\u3089\u5411\u304d\u5408\u3046\u3053\u3068\u3067\u3001\u65e5\u5e38\u751f\u6d3b\u306e\u8cea\u3092\u9ad8\u3081\u3066\u3044\u304f\u3053\u3068\u304c\u76ee\u6307\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3054\u5bb6\u65cf\u304c\u62b1\u3048\u308b\u4e0d\u5b89\u306b\u306f\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3092\u901a\u3058\u3066\u5411\u304d\u5408\u3063\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/24156031_s.jpg\" alt=\"\u5bb6\u65cf\u3067\u5b50\u3069\u3082\u3092\u652f\u3048\u308b\u69d8\u5b50\" class=\"wp-image-87708\"\/><\/figure><\/div>\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<p>NMLFS\u306b\u3064\u3044\u3066\u3001\u76f8\u8ac7\u6642\u306b\u3088\u304f\u5bc4\u305b\u3089\u308c\u308b\u8cea\u554f\u3092\u307e\u3068\u3081\u307e\u3057\u305f\u3002\u6c17\u306b\u306a\u308b\u9805\u76ee\u304b\u3089\u78ba\u8a8d\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n\n<li>Q1. NMLFS\u306f\u901a\u5e38\u306eNIPT\u3067\u308f\u304b\u308a\u307e\u3059\u304b\u3002<br>\u4e00\u822c\u7684\u306aNIPT\u306f21\u30fb18\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/patau-syndrome\/\">13\u30c8\u30ea\u30bd\u30df\u30fc<\/a>\u304c\u5bfe\u8c61\u3067\u30018q21.3\u301cq22.1\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u306f\u901a\u5e38\u306e\u691c\u67fb\u5bfe\u8c61\u306b\u542b\u307e\u308c\u307e\u305b\u3093\u3002\u62e1\u5f35NIPT\u3067\u3082\u7db2\u7f85\u3055\u308c\u306a\u3044\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n<li>Q2. \u767a\u9054\u306e\u9045\u308c\u306f\u3069\u306e\u7a0b\u5ea6\u3067\u3059\u304b\u3002<br>\u8efd\u5ea6\u304b\u3089\u4e2d\u7b49\u5ea6\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u30fb\u767a\u9054\u306e\u9045\u308c\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u7a0b\u5ea6\u306b\u306f\u500b\u4eba\u5dee\u304c\u5927\u304d\u304f\u3001\u6b63\u5e38\u7bc4\u56f2\u306b\u3068\u3069\u307e\u308b\u4f8b\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n<li>Q3. \u6b21\u306e\u5b50\u3069\u3082\u306b\u3082\u8d77\u3053\u308a\u307e\u3059\u304b\u3002<br>\u591a\u304f\u306f\u30c7\u30ce\u30dc\u5909\u7570\uff08\u65b0\u751f\u7a81\u7136\u5909\u7570\uff09\u3067\u3001\u4e21\u89aa\u304b\u3089\u306e\u907a\u4f1d\u306f\u7a00\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u518d\u767a\u30ea\u30b9\u30af\u306f\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u500b\u5225\u306b\u78ba\u8a8d\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/li>\n\n\n<li>Q4. \u78ba\u5b9a\u8a3a\u65ad\u306b\u306f\u3069\u3093\u306a\u691c\u67fb\u304c\u5fc5\u8981\u3067\u3059\u304b\u3002<br>\u51fa\u751f\u524d\u3067\u3042\u308c\u3070<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u3001\u51fa\u751f\u5f8c\u3067\u3042\u308c\u3070\u67d3\u8272\u4f53<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u691c\u67fb\u304c\u78ba\u5b9a\u8a3a\u65ad\u306b\u7528\u3044\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n<li>Q5. \u6bdb\u9aea\u9f3b\u6307\u9aa8\u75c7\u5019\u7fa42\u578b\uff08TRPS2\uff09\u3068\u306f\u9055\u3046\u75c5\u6c17\u3067\u3059\u304b\u3002<br>\u306f\u3044\u3001\u5225\u306e\u75be\u60a3\u3067\u3059\u3002NMLFS\u306f8q21.3\u301cq22.1\u3001TRPS2\u306f8q23.3\u301cq24.13\u306e\u6b20\u5931\u304c\u539f\u56e0\u3067\u3001\u75c7\u72b6\u3084\u6b20\u5931\u9818\u57df\u304c\u7570\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n<li>Q6. \u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u3059\u304b\u3002<br>\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u306a\u304f\u3001\u7642\u80b2\u30fb\u30ea\u30cf\u30d3\u30ea\u30fb\u5c02\u9580\u79d1\u306b\u3088\u308b\u30d5\u30a9\u30ed\u30fc\u306a\u3069\u3001\u75c7\u72b6\u306b\u3042\u308f\u305b\u305f\u30b5\u30dd\u30fc\u30c8\u30b1\u30a2\u304c\u4e2d\u5fc3\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n\n<\/ul>\n\n\n\n<p>\u3053\u3053\u307e\u3067\u306e\u60c5\u5831\u3060\u3051\u3067\u5224\u65ad\u304c\u96e3\u3057\u3044\u3068\u611f\u3058\u305f\u5834\u5408\u306f\u3001\u7121\u6599\u306eLINE\u76f8\u8ac7\u3067\u500b\u5225\u306b\u78ba\u8a8d\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<div class=\"wp-block-buttons is-content-justification-center is-layout-flex wp-container-core-buttons-is-layout-16018d1d wp-block-buttons-is-layout-flex\">\n<div class=\"wp-block-button\"><a class=\"wp-block-button__link wp-element-button\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/line-registration\/?lang=zh-hans\" target=\"_blank\" rel=\"noopener\">LINE\u7121\u6599\u76f8\u8ac7\u306f\u3053\u3061\u3089<\/a><\/div>\n<\/div>\n\n\n\n<script 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style=\"border:1px solid #e0e0e0;padding:3% 5%;margin:2rem 0;background-color:#f9f9f9;\"><p><strong>\u3010\u76e3\u4fee\u8005\u3011\u5ca1\u535a\u53f2<\/strong><br>\u533b\u7642\u6cd5\u4eba\u793e\u56e3\u798f\u7f8e\u4f1a \u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u7d71\u62ec\u9662\u9577\u30fbLabo Director<br>\u6176\u61c9\u7fa9\u587e\u5927\u5b66\u533b\u5b66\u90e8\u5352\u3002\u65e5\u672c\u304a\u3088\u3073\u30a2\u30e1\u30ea\u30ab\u306e\u533b\u5e2b\u56fd\u5bb6\u8a66\u9a13\u306b\u5408\u683c\u3057\u3001\u65e5\u672c\u306b20\u4eba\u307b\u3069\u3057\u304b\u3044\u306a\u3044\u30e9\u30dc\u30c7\u30a3\u30ec\u30af\u30bf\u30fc\u8cc7\u683c\u3092\u4fdd\u6709\u3002NIPT\u3092\u306f\u3058\u3081\u3068\u3059\u308b\u51fa\u751f\u524d\u691c\u67fb\u306e\u7cbe\u5ea6\u7ba1\u7406\u30fb\u907a\u4f1d\u533b\u5b66\u9818\u57df\u306e\u76e3\u4fee\u3092\u62c5\u5f53\u3002<\/p><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%BC%95%E7%94%A8%E6%96%87%E7%8C%AE\"><\/span>\u5f15\u7528\u6587\u732e<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n\n<li><a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/16691576\/\" target=\"_blank\" rel=\"noopener\">Shieh JT, Aradhya S, Novelli A, et al. (2006). Nablus mask-like facial syndrome is caused by a microdeletion of 8q detected by array-based comparative genomic hybridization. <em>American Journal of Medical Genetics Part A<\/em>, 140(12), 1267-1273.<\/a><\/li>\n\n\n<li><a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/19328248\/\" target=\"_blank\" rel=\"noopener\">Raas-Rothschild A, Dijkhuizen T, Sikkema-Raddatz B, et al. (2009). The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome: report on two patients and review of the literature. <em>European Journal of Medical Genetics<\/em>, 52(2-3), 140-144.<\/a><\/li>\n\n\n<li><a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/20074678\/\" target=\"_blank\" rel=\"noopener\">Jain S, Yang P, Farrell SA. (2010). A case of 8q22.1 microdeletion without the Nablus mask-like facial syndrome phenotype. <em>European Journal of Medical Genetics<\/em>, 53(2), 108-110.<\/a><\/li>\n\n\n<li><a href=\"https:\/\/www.orpha.net\/en\/disease\/detail\/178303\" target=\"_blank\" rel=\"noopener\">Orphanet. 8q22.1 microdeletion syndrome. Retrieved from https:\/\/www.orpha.net\/en\/disease\/detail\/178303<\/a><\/li>\n\n\n<li><a href=\"https:\/\/en.wikipedia.org\/wiki\/Nablus_mask-like_facial_syndrome\" target=\"_blank\" rel=\"noopener\">Wikipedia. Nablus mask-like facial syndrome. Retrieved from https:\/\/en.wikipedia.org\/wiki\/Nablus_mask-like_facial_syndrome<\/a><\/li>\n\n\n<li>Online Mendelian Inheritance in Man (OMIM). #608156 NABLUS MASK-LIKE FACIAL SYNDROME; NMLFS.<\/li>\n<\/ul>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n\n","protected":false},"excerpt":{"rendered":"\u3053\u306e\u8a18\u4e8b\u306e\u307e\u3068\u3081\u30ca\u30d6\u30eb\u30b9\u4eee\u9762\u69d8\u9854\u75c7\u5019\u7fa4\uff08&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nablus-mask-like-facial-syndrome-nmlfs-22q11-2\/?lang=zh-hans\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":101,"featured_media":87826,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[14],"tags":[],"class_list":["post-85407","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-other-zh-hans"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/85407","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/users\/101"}],"replies":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/comments?post=85407"}],"version-history":[{"count":23,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/85407\/revisions"}],"predecessor-version":[{"id":134835,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/85407\/revisions\/134835"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/87826"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=85407"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=85407"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=85407"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}