{"id":18211,"date":"2021-10-15T13:34:19","date_gmt":"2021-10-15T04:34:19","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=18211"},"modified":"2025-07-24T13:23:43","modified_gmt":"2025-07-24T04:23:43","slug":"2p16-3p21","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/2p16-3p21\/","title":{"rendered":"\u30ea\u30f3\u30c1\u75c7\u5019\u7fa4\u306e\u539f\u56e0\u3068\u3057\u3066\u306e\u67d3\u8272\u4f532p16.3\u2010p21\u306e\u96a3\u63a5\u907a\u4f1d\u5b50\u6b20\u5931"},"content":{"rendered":"\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<p>Erin E. Salo-Mullen, MS, MPH, CGC, Patricio B. Lynn, MD, Lu Wang, MD, PhD, Michael Walsh, MD,Anuradha Gopalan, MD, Jinru Shia, MD,Christina Tran, BS, Fung Ying Man, MD, MSc,Sean McBride, MD, MPH, Mark Schattner, MD,Liying Zhang, MD, PhD,Martin R. Weiser, MD,and Zsofia K. Stadler, MD<\/p>\n\n\n\n<p>\u533b\u5b66\u90e8\u3001\u30b9\u30ed\u30fc\u30f3\u30b1\u30bf\u30ea\u30f3\u30b0\u8a18\u5ff5\u304c\u3093\u30bb\u30f3\u30bf\u30fc\u30011275\u30e8\u30fc\u30af\u5e73\u5747\u3001\u30cb\u30e5\u30fc\u30e8\u30fc\u30af\u3001\u30cb\u30e5\u30fc\u30e8\u30fc\u30af\u300110065<br>\u624b\u8853\u3001\u30b9\u30ed\u30fc\u30f3\u30b1\u30bf\u30ea\u30f3\u30b0\u8a18\u5ff5\u304c\u3093\u30bb\u30f3\u30bf\u30fc\u30011275\u30e8\u30fc\u30af\u5e73\u5747\u3001\u30cb\u30e5\u30fc\u30e8\u30fc\u30af\u3001\u30cb\u30e5\u30fc\u30e8\u30fc\u30af\u300110065<br>\u75c5\u7406\u5b66\u3001\u30b9\u30ed\u30fc\u30f3\u30b1\u30bf\u30ea\u30f3\u30b0\u8a18\u5ff5\u304c\u3093\u30bb\u30f3\u30bf\u30fc\u30011275\u30e8\u30fc\u30af\u5e73\u5747\u3001\u30cb\u30e5\u30fc\u30e8\u30fc\u30af\u3001\u30cb\u30e5\u30fc\u30e8\u30fc\u30af\u300110065<br>Radiation Oncology, Memorial Sloan Kettering Cancer Center, 1275 York Ave., New York, NY 10065<br>Weill Cornell Medical College, 1300 York Ave, New York, NY 10065 \u533b\u5b66\u90e8 \u624b\u8853\u3001Weill Cornell Medical College, 1300 York Ave, New York, NY 10065<\/p>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\"><div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/app\/registration\/\"><\/p>\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u78ba\u304b\u306a\u30c7\u30fc\u30bf\u306b\u57fa\u3065\u3044\u305f\u9078\u629e<br \/>\u5b89\u5fc3\u306e<span>NIPT\u691c\u67fb<\/span><\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p><\/a>\n<\/div>\n<\/div>\n\n\n\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_84 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">\u76ee\u6b21<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" height=\"10px\" viewBox=\"0 0 24 24\" version=\"1.2\" baseProfile=\"tiny\"><path d=\"M18.2 9.3l-6.2-6.3-6.2 6.3c-.2.2-.3.4-.3.7s.1.5.3.7c.2.2.4.3.7.3h11c.3 0 .5-.1.7-.3.2-.2.3-.5.3-.7s-.1-.5-.3-.7zM5.8 14.7l6.2 6.3 6.2-6.3c.2-.2.3-.5.3-.7s-.1-.5-.3-.7c-.2-.2-.4-.3-.7-.3h-11c-.3 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/2p16-3p21\/#%E8%87%A8%E5%BA%8A%E3%82%B7%E3%83%BC%E3%82%AF%E3%82%A8%E3%83%A9\" >\u81e8\u5e8a\u30b7\u30fc\u30af\u30a8\u30e9<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/2p16-3p21\/#%E8%80%83%E5%AF%9F\" >\u8003\u5bdf<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/2p16-3p21\/#%E8%AC%9D%E8%BE%9E\" >\u8b1d\u8f9e<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/2p16-3p21\/#%E5%8F%82%E8%80%83%E6%96%87%E7%8C%AE\" >\u53c2\u8003\u6587\u732e<\/a><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\" id=\"\u8981\u7d04\"><span class=\"ez-toc-section\" id=\"%E8%A6%81%E7%B4%84\"><\/span>\u8981\u7d04<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u30ea\u30f3\u30c1\u75c7\u5019\u7fa4\u306f\u3001DNA\u30df\u30b9\u30de\u30c3\u30c1\u4fee\u5fa9(MMR)\u907a\u4f1d\u5b50\u306b\u304a\u3051\u308b\u75c5\u539f\u6027\u7a81\u7136\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u5e38\u67d3\u8272\u4f53\u512a\u6027\u75be\u60a3\u3067\u3042\u308b\u3002 <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3084\u5148\u5929\u7570\u5e38\u306a\u3069\u306e\u81e8\u5e8a\u7684\u7279\u5fb4\u3068\u4e00\u822c\u7684\u306b\u95a2\u9023\u3057\u3066\u3044\u308b\u304c\u3001\u96a3\u63a5\u3059\u308b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u907a\u4f1d\u5b50\u6b20\u5931<\/a>\u3082\u307e\u305f\u3001\u304c\u3093\u7d20\u56e0\u75c7\u5019\u7fa4\u3092\u5f15\u304d\u8d77\u3053\u3059\u3053\u3068\u304c\u3042\u308b\u3002\u67d3\u8272\u4f532p16.3\u2010p21\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\u306b\u3088\u308a\u5f15\u304d\u8d77\u3053\u3055\u308c\u305f\u30ea\u30f3\u30c1\u75c7\u5019\u7fa4\u306e52\u6b73\u7537\u6027\u306b\u3064\u3044\u3066\u5831\u544a\u3059\u308b\u3002 \u60a3\u8005\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3092\u6709\u3057\u3001MSH2\u304a\u3088\u3073MSH6\u86cb\u767d\u767a\u73fe\u306e\u6b20\u5982\u3092\u4f34\u3046MMR\u6b20\u640d\u3092\u793a\u3059\u5076\u767a\u7684\u306b\u540c\u5b9a\u3055\u308c\u305f\u540c\u6642\u6027S\u72b6\u7d50\u8178\u817a\u764c\u3092\u4f34\u3046\u524d\u7acb\u817a\u817a\u817a\u764c\u3092\u5448\u3057\u305f\u3002 \u5bb6\u65cf\u6b74\u306f\u660e\u3089\u304b\u3067\u306f\u306a\u304b\u3063\u305f\u3002 \u8eab\u4f53\u8a3a\u5bdf\u3067\u306f\u3001\u4f4e\u8eab\u9577\u3001\u77ed\u3044\u984d\u3068\u77ed\u3044\u89aa\u6307\u3092\u4f34\u3046\u5c0f\u8133\u75c7\u3001\u624b\u306e\u77ed\u6307\u75c7\u3001\u624b\u638c\u306e\u6a2a\u65b9\u5411\u306e\u3057\u308f\u3001\u8db3\u5e95\u306e\u8272\u7d20\u6c88\u7740\u904e\u5270\u3092\u4f34\u3046\u5e83\u304f\u5c0f\u3055\u306a\u8db3\u304c\u660e\u3089\u304b\u306b\u306a\u3063\u305f\u3002 \u60a3\u8005\u306f\u3001pT3N1S\u72b6\u817a\u764c\u306e\u305f\u3081\u306b\u56de\u8178\u76f4\u8178\u543b\u5408\u3092\u4f34\u3046\u7d50\u8178\u5168\u6458\u8853\u3092\u53d7\u3051\u305f\u3002 MSH2\u3001MSH6\u3001\u304a\u3088\u3073EPCAM\u907a\u4f1d\u5b50\u306e\u751f\u6b96\u7d30\u80de\u7cfb\u907a\u4f1d\u5b50\u691c\u67fb\u306b\u3088\u308a\u3001\u5b8c\u5168\u306a<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u907a\u4f1d\u5b50\u6b20\u5931<\/a>\u304c\u660e\u3089\u304b\u306b\u306a\u3063\u305f\u3002 SNP\u30a2\u30ec\u30a4\u306b\u57fa\u3065\u304fDNA\u30b3\u30d4\u30fc\u6570\u5206\u6790\u306f\u30012p16.3\u2010p21\u30674.8Mb\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\u3092\u540c\u5b9a\u3057\u305f\u3002 3\u3064\u306e\u30ea\u30f3\u30c1\u75c7\u5019\u7fa4\u95a2\u9023\u907a\u4f1d\u5b50\u306b\u52a0\u3048\u3066\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\u3057\u305f\u67d3\u8272\u4f53\u5207\u7247\u306f\u3001NRXN1\u3001CRIPT\u3001CALM2\u3001FBXO11\u3001LHCGR\u3001MCFD2\u3001TTC7A\u3001EPAS1\u3001PRKCE\u3001\u304a\u3088\u307315\u306e\u907a\u4f1d\u5b50\u3092\u5305\u542b\u3057\u305f\u3002 \u5bb6\u65cf\u6027\u5927\u8178\u817a\u816b\u75c7\u306a\u3069\u306e\u4ed6\u306e\u907a\u4f1d\u6027\u304c\u3093\u7d20\u56e0\u75c7\u5019\u7fa4\u3067\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u5148\u5929\u6027\u907a\u4f1d\u5b50\u6b20\u640d<\/a>\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u3002 \u8457\u8005\u3089\u306e\u5831\u544a\u304a\u3088\u3073\u6587\u732e\u306e\u30ec\u30d3\u30e5\u30fc\u306f\u30012p16\u2010p21\u67d3\u8272\u4f53\u9818\u57df\u5185\u306e\u96a3\u63a5<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u907a\u4f1d\u5b50\u6b20\u5931<\/a>\u304c\u30ea\u30f3\u30c1\u75c7\u5019\u7fa4\u306e\u7a00\u306a\u539f\u56e0\u3067\u3042\u308b\u304c\u3001\u7570\u306a\u308b\u8868\u73fe\u578b\u7279\u5fb4\u3092\u5448\u3059\u308b\u3053\u3068\u3092\u793a\u5506\u3057\u3001\u3053\u306e\u75c7\u5019\u7fa4\u5b9f\u4f53\u306e\u8a8d\u8b58\u304a\u3088\u3073\u8a8d\u8b58\u306e\u5fc5\u8981\u6027\u3092\u5f37\u8abf\u3059\u308b\u3002<\/p>\n\n\n\n<p>\u5171\u8457\u8005: Zsofia K. Stadler, MD, 1275 York Ave. Box 295, New York, NY 10065, stadlerz@mskcc.org, Telephone:<br>646-888-4039\u3001FAX:646-888-4051<br>*\u5171\u8457\u8005<br>\u5229\u76ca\u76f8\u53cd:\u7121<\/p>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<h3 class=\"wp-block-heading\" id=\"\u30ad\u30fc\u30ef\u30fc\u30c9\"><span class=\"ez-toc-section\" id=\"%E3%82%AD%E3%83%BC%E3%83%AF%E3%83%BC%E3%83%89\"><\/span>\u30ad\u30fc\u30ef\u30fc\u30c9<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u30ea\u30f3\u30c1\u75c7\u5019\u7fa4;<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u67d3\u8272\u4f53\u6b20\u5931<\/a>;\u524d\u7acb\u817a\u304c\u3093\u3001\u5927\u8178\u304c\u3093\u3001 2p<\/p>\n<\/div><\/div>\n\n\n\n    <a href=\"\/nipt\/nipt\/partialdeletions\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u90e8\u5206\u6b20\u5931\u91cd\u8907\u306e\u691c\u67fb <\/div>\n          <div class=\"blog-card-excerpt\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u3067\u306f\u3001\u59d4\u8a17\u3059\u308b\u6771\u4eac\u885b\u751f\u691c\u67fb\u6240\u3067\u3001\u90e8\u5206\u6b20\u5931\u30fb\u91cd\u8907\u75be\u60a3\u3082\u691c\u67fb\u304c\u3067\u304d\u308b\u3088\u3046\u306b\u306a\u3063\u305f\u3053\u3068\u306b\u4f34\u3044\u3001\u598a\u5a20\u304c\u5224\u660e\u3057\u305f\u65e9\u671f\u6bb5\u968e\u304b\u3089\u5168\u67d3\u8272\u4f53\u306e\u90e8...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<h2 class=\"wp-block-heading\" id=\"\u306f\u3058\u3081\u306b\"><span class=\"ez-toc-section\" id=\"%E3%81%AF%E3%81%98%E3%82%81%E3%81%AB\"><\/span>\u306f\u3058\u3081\u306b<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u30ea\u30f3\u30c1\u75c7\u5019\u7fa4\u306f\u3001DNA\u30df\u30b9\u30de\u30c3\u30c1\u4fee\u5fa9(MMR)\u907a\u4f1d\u5b50(MLH1\u3001MSH2\u3001MSH6\u3001PMS2)\u306e\u75c5\u539f\u6027\u7a81\u7136\u5909\u7570\u304a\u3088\u3073EPCAM(TACSTD1)\u907a\u4f1d\u5b50\u306e3&#8217;\u30a8\u30ad\u30bd\u30f3\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u5e38\u67d3\u8272\u4f53\u512a\u6027\u306e\u75be\u60a3\u3067\u3042\u308a\u3001\u5927\u8178\u764c\u3001\u5b50\u5bae\u5185\u819c\u764c\u3001\u5375\u5de3\u764c\u3001\u80c3\u764c\u3001\u4e0a\u90e8\u5c3f\u8def\u764c\u306e\u30ea\u30b9\u30af\u5897\u52a0\u3068\u95a2\u9023\u3057\u3066\u3044\u308b[<a href=\"#reference01\">1<\/a>]\u3002 MSH2\u3001MSH6\u3001\u304a\u3088\u3073EPCAM\u907a\u4f1d\u5b50\u306f\u3001\u67d3\u8272\u4f532p\u4e0a\u306b\u4f4d\u7f6e\u3059\u308b\u3002 \u30ea\u30f3\u30c1\u75c7\u5019\u7fa4\u306e\u8a3a\u65ad\u904e\u7a0b\u306b\u306f\u3001MMR\u86cb\u767d\u767a\u73fe\u306b\u5bfe\u3059\u308b\u816b\u760d\u514d\u75ab\u7d44\u7e54\u5316\u5b66(IHC)\u67d3\u8272\u3001\u30de\u30a4\u30af\u30ed\u30b5\u30c6\u30e9\u30a4\u30c8\u4e0d\u5b89\u5b9a\u6027(MSI)\u5206\u6790\u3001\u304a\u3088\u3073\u751f\u6b96\u7d30\u80de\u7cfb\u907a\u4f1d\u5b50\u691c\u67fb\u304c\u3042\u308b[<a href=\"#reference01\">1<\/a>]\u3002<\/p>\n\n\n\n<p>\u96a3\u63a5<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u907a\u4f1d\u5b50\u6b20\u5931\u75c7\u5019\u7fa4<\/a>\u306f\u3001\u7279\u5b9a\u306e\u67d3\u8272\u4f53\u65ad\u7247\u304b\u3089\u8907\u6570\u306e\u96a3\u63a5<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u907a\u4f1d\u5b50\u304c\u6b20\u5931<\/a>\u3057\u305f\u7d50\u679c\u3067\u3042\u308b\u3002 <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3001\u767a\u9054\u9045\u5ef6\u3001\u5148\u5929\u7570\u5e38\u306a\u3069\u306e\u69d8\u3005\u306a\u81e8\u5e8a\u7684\u7279\u5fb4\u3092\u6709\u3059\u308b\u60a3\u8005\u3067\u306f\u3001\u96a3\u63a5\u3059\u308b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u907a\u4f1d\u5b50\u6b20\u5931<\/a>\u304c\u540c\u5b9a\u3055\u308c\u3066\u3044\u308b[<a href=\"#reference02\">2<\/a>]\u3002 \u591a\u304f\u306e\u96a3\u63a5\u3059\u308b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u907a\u4f1d\u5b50\u6b20\u5931<\/a>\u306f\u3001\u95a2\u9023\u3059\u308b\u8868\u73fe\u578b\u304c\u3057\u3070\u3057\u3070\u8907\u96d1\u3067\u3001\u751f\u6b96\u9069\u5fdc\u5ea6\u306e\u4f4e\u4e0b\u306b\u3064\u306a\u304c\u308b\u305f\u3081\u3001de novo\u4e8b\u8c61\u306e\u7d50\u679c\u3067\u3042\u308b[<a href=\"#reference02\">2<\/a>]\u3002<\/p>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/app\/registration\/\"><\/p>\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u78ba\u304b\u306a\u30c7\u30fc\u30bf\u306b\u57fa\u3065\u3044\u305f\u9078\u629e<br \/>\u5b89\u5fc3\u306e<span>NIPT\u691c\u67fb<\/span><\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p><\/a>\n<\/div>\n<\/div>\n\n\n\n<p>\u4ee5\u524d\u306b\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u304c\u3001\u96a3\u63a5\u3059\u308b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u907a\u4f1d\u5b50\u6b20\u5931<\/a>\u306f\u304c\u3093\u7d20\u56e0\u75c7\u5019\u7fa4\u306e\u307e\u308c\u306a\u539f\u56e0\u3067\u3042\u308b[<a href=\"#reference03\">3<\/a>]\u3002 \u672c\u7a3f\u3067\u306f\u3001MSH2\u3001MSH6\u3001\u304a\u3088\u3073EPCAM\u907a\u4f1d\u5b50\u3092\u5305\u542b\u3059\u308b\u67d3\u8272\u4f532p16.3\u2010p21\u306b\u304a\u3051\u308b\u96a3\u63a5<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u907a\u4f1d\u5b50\u6b20\u5931<\/a>\u306b\u3088\u308a\u5f15\u304d\u8d77\u3053\u3055\u308c\u305f\u30ea\u30f3\u30c1\u75c7\u5019\u7fa4\u60a3\u8005\u306b\u3064\u3044\u3066\u5831\u544a\u3059\u308b\u3002 \u904e\u53bb\u306e\u5831\u544a\u306e\u30ec\u30d3\u30e5\u30fc\u3068\u5171\u306b\u3001\u6211\u3005\u306f\u3001\u767a\u9054\u7570\u5e38\u306e\u6839\u5e95\u306b\u3042\u308b\u539f\u56e0\u3068\u3057\u3066\u96a3\u63a5\u3059\u308b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u907a\u4f1d\u5b50\u6b20\u5931\u75c7\u5019\u7fa4<\/a>\u3092\u8a8d\u8b58\u3059\u308b\u5fc5\u8981\u6027\u3001\u304a\u3088\u3073\u5e74\u9f62\u306b\u5fdc\u3058\u3066\u7f79\u60a3\u8005\u306e\u304c\u3093\u30ea\u30b9\u30af\u304a\u3088\u3073\u7ba1\u7406\u3092\u8003\u616e\u3059\u308b\u5fc5\u8981\u6027\u3092\u5f37\u8abf\u3059\u308b\u3002<\/p>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<h2 class=\"wp-block-heading\" id=\"\u65b9\u6cd5\"><span class=\"ez-toc-section\" id=\"%E6%96%B9%E6%B3%95\"><\/span>\u65b9\u6cd5<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<h3 class=\"wp-block-heading\" id=\"\u81e8\u5e8a\u50cf\"><span class=\"ez-toc-section\" id=\"%E8%87%A8%E5%BA%8A%E5%83%8F\"><\/span>\u81e8\u5e8a\u50cf<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u75c5\u56e0\u4e0d\u660e\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u306e\u65e2\u5f80\u306e\u3042\u308b52\u6b73\u7537\u6027\u304c\u300122ng\/mL\u306ePSA\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u5f8c\u306e\u751f\u691c\u3067\u30b0\u30ea\u30bd\u30f37\u524d\u7acb\u817a\u817a\u764c\u3068\u8a3a\u65ad\u3055\u308c\u305f\u3002 \u9aa8\u30b9\u30ad\u30e3\u30f3\u306f\u9670\u6027\u3067\u3042\u3063\u305f\u3002 \u5916\u7167\u5c04\u7642\u6cd5\u3092\u4e88\u5b9a\u3057\u3066\u3044\u305f\u304c\u3001\u653e\u5c04\u7dda\u6cbb\u7642\u4e2d\u306e\u6b8b\u5b58\u3092\u9075\u5b88\u3067\u304d\u306a\u304b\u3063\u305f\u305f\u3081\u5b9f\u65bd\u3057\u306a\u304b\u3063\u305f\u3002 \u624b\u8853\u7ba1\u7406\u306e\u305f\u3081\u5f53\u9662\u3092\u53d7\u8a3a\u3057\u305f\u969b\u3001\u60a3\u8005\u306e\u4ecb\u8b77\u8005\u304b\u3089\u76f4\u8178\u3042\u305f\u308a1\u304b\u6708\u9593\u306e\u660e\u8d64\u8272\u8840\u6db2\u306e\u75c5\u6b74\u304c\u5831\u544a\u3055\u308c\u305f\u3002 \u8853\u524d\u8a55\u4fa1\u5168\u8eab\u304a\u3088\u3073\u524d\u7acb\u817a\u78c1\u6c17\u5171\u9cf4\u753b\u50cf\u6cd5(MRI)\u306f\u3001\u539f\u767a\u816b\u760d\u304a\u3088\u3073\u9650\u5c40\u6027\u524d\u7acb\u817a\u75be\u60a3\u304c\u7591\u308f\u308c\u308b\u9060\u4f4dS\u72b6\u7d50\u8178\u306e\u540c\u5fc3\u6027\u80a5\u539a\u3092\u660e\u3089\u304b\u306b\u3057\u305f\u3002 \u8edf\u6027S\u72b6\u7d50\u8178\u93e1\u691c\u67fb\u3067\u306f\u3001S\u72b6\u7d50\u8178\u306b\u90e8\u5206\u7684\u306b\u5468\u56f2\u306e\u975e\u9589\u585e\u6027\u306e\u5927\u304d\u306a\u816b\u7624\u304c\u540c\u5b9a\u3055\u308c\u3001\u751f\u691c\u3067\u306f\u6d78\u6f64\u6027\u4f4e\u5206\u5316\u764c\u304c\u78ba\u8a8d\u3055\u308c\u305f\u3002 MMR\u86cb\u767d\u8cea\u306eIHC\u67d3\u8272\u306fMSH6\u306e\u6b20\u5982\u3092\u793a\u3057\u305f\u3002 \u80f8\u90e8\u3001\u8179\u90e8\u304a\u3088\u3073\u9aa8\u76e4\u306e\u75c5\u671f\u5206\u985eCT\u3067\u306f\u3001\u9060\u9694\u8ee2\u79fb\u306e\u8a3c\u62e0\u306f\u793a\u3055\u308c\u306a\u304b\u3063\u305f\u3002<\/p>\n\n\n\n<p>MMR IHC\u306e\u7570\u5e38\u7d50\u679c\u306b\u57fa\u3065\u304d\u3001\u60a3\u8005\u306fClinical Genetics Service\u306b\u7d39\u4ecb\u3055\u308c\u305f\u3002 4\u4e16\u4ee3\u5bb6\u7cfb\u56f3\u3067\u306f\u3001\u304c\u3093\u3001\u5927\u8178\u30dd\u30ea\u30fc\u30d7\u3001\u304a\u3088\u3073\u767a\u9054\u969c\u5bb3\u306b\u3064\u3044\u3066\u306f\u660e\u3089\u304b\u306b\u3055\u308c\u3066\u3044\u306a\u304b\u3063\u305f\u3002 \u60a3\u8005\u3055\u3093\u306b\u306f\u5b50\u4f9b\u306f\u3044\u307e\u305b\u3093\u3002 \u5144\u5f1f3\u4eba\u3001\u59c9\u59b92\u4eba\u304c40~50\u4ee3\u3067\u751f\u304d\u3066\u3044\u308b\u3002 \u304a\u6bcd\u3055\u3093\u3068\u304a\u7236\u3055\u3093\u306f70\u4ee3\u3067\u751f\u304d\u3066\u3044\u3066\u5143\u6c17\u3060\u3002 \u540c\u60c5\u306f\u5426\u5b9a\u3055\u308c\u305f\u3002 \u5bb6\u65cf\u306f\u30a2\u30d5\u30ea\u30ab\u7cfb\u30a2\u30e1\u30ea\u30ab\u4eba\u306e\u5bb6\u7cfb\u3067\u3042\u308b\u3002 <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u51fa\u751f\u3002 \u8a00\u8a9e\u7406\u89e3\u306f\u5358\u7d14\u306a\u30b3\u30de\u30f3\u30c9\u306b\u9650\u5b9a\u3055\u308c\u3001\u8a00\u8a9e\u8868\u73fe\u306f\u5c11\u6570\u306e\u5358\u8a9e\u306b\u9650\u5b9a\u3055\u308c\u308b\u3002 \u5f7c\u306f\u4e21\u89aa\u3068\u4e00\u7dd2\u306b\u66ae\u3089\u3057\u3001\u3059\u3079\u3066\u306e\u30bb\u30eb\u30d5\u30b1\u30a2\u6d3b\u52d5\u306b\u52a9\u3051\u3092\u6c42\u3081\u3066\u3044\u308b\u3002 \u5f7c\u306f\u6bce\u65e5\u306e\u6210\u4eba\u5411\u3051\u30d7\u30ed\u30b0\u30e9\u30e0\u306b\u53c2\u52a0\u3057\u3001\u65e5\u3005\u306e\u76e3\u7763\u3068\u652f\u63f4\u3092\u5fc5\u8981\u3068\u3057\u3066\u3044\u308b\u3002 \u8eab\u4f53\u8a3a\u5bdf\u3067\u306f\u3001\u4f4e\u8eab\u9577(4&#8217;8&#8242;)\u3001\u77ed\u3044\u984d\u3068\u77ed\u3044\u89aa\u6307\u3092\u4f34\u3046\u5c0f\u8133\u75c7\u3001\u77ed\u6307\u75c7\u3001\u624b\u638c\u6a2a\u3072\u3060\u3001\u6307\u5148\u306e\u8089\u8cea\u306e\u30d1\u30c3\u30c9\u3001\u8db3\u5e95\u306e\u8272\u7d20\u6c88\u7740\u904e\u5270\u3092\u4f34\u3046\u5e83\u304f\u5c0f\u3055\u306a\u8db3\u304c\u660e\u3089\u304b\u306b\u306a\u3063\u305f(<strong>\u56f31a<\/strong>)\u3002 \u6587\u66f8\u306b\u3088\u308b\u30a4\u30f3\u30d5\u30a9\u30fc\u30e0\u30c9\u30fb\u30b3\u30f3\u30bb\u30f3\u30c8\u3092\u60a3\u8005\u306e\u89aa\/\u4fdd\u8b77\u8005\u304b\u3089\u53d6\u5f97\u3057\u3001\u5199\u771f\u3092\u516c\u958b\u306b\u4f7f\u7528\u3057\u305f\u3002<\/p>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<h3 class=\"wp-block-heading\" id=\"\u907a\u4f1d\u5b66\u7684\u8a55\u4fa1\"><span class=\"ez-toc-section\" id=\"%E9%81%BA%E4%BC%9D%E5%AD%A6%E7%9A%84%E8%A9%95%E4%BE%A1\"><\/span>\u907a\u4f1d\u5b66\u7684\u8a55\u4fa1<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u7d50\u8178\u816b\u760d\u306b\u304a\u3051\u308bMMR\u6b20\u640d\u306e\u5b58\u5728\u306b\u57fa\u3065\u304d\u3001\u30ea\u30f3\u30c1\u75c7\u5019\u7fa4\u306e\u53ef\u80fd\u6027\u304c\u9ad8\u307e\u3063\u305f\u3002 \u30ea\u30f3\u30c1\u75c7\u5019\u7fa4\u3068\u524d\u7acb\u817a\u304c\u3093\u3068\u306e\u95a2\u9023\u306e\u53ef\u80fd\u6027\u3082\u6307\u6458\u3055\u308c\u305f\u3002 \u60a3\u8005\u306e\u6bcd\u89aa\u306f\u3001MSH6\u3001MSH2\u3001\u304a\u3088\u3073EPCAM\u907a\u4f1d\u5b50\u306e\u751f\u6b96\u7d30\u80de\u7cfb\u907a\u4f1d\u5b50\u691c\u67fb\u306b\u3064\u3044\u3066\u30a4\u30f3\u30d5\u30a9\u30fc\u30e0\u30c9\u30fb\u30b3\u30f3\u30bb\u30f3\u30c8\u3092\u63d0\u4f9b\u3057\u3001\u751f\u6b96\u7d30\u80de\u7cfbDNA\u6a19\u672c\u3092\u5f97\u305f\u3002 MSH6\u3001MSH2\u3001\u304a\u3088\u3073EPCAM\u907a\u4f1d\u5b50\u306e\u751f\u6b96\u7d30\u80de\u7cfb\u907a\u4f1d\u5b50\u691c\u67fb\u3092MSK Diagnostic Molecular Genetics Laboratory(\u914d\u5217\u6c7a\u5b9a\u304a\u3088\u3073\u591a\u91cd\u30e9\u30a4\u30b2\u30fc\u30b7\u30e7\u30f3\u4f9d\u5b58\u6027\u30d7\u30ed\u30fc\u30d6\u5897\u5e45)\u3067\u5b9f\u65bd\u3057\u305f\u3002 \u6700\u521d\u306e\u691c\u67fb\u7d50\u679c\u306b\u7d9a\u3044\u3066\u3001\u60a3\u8005\u306e\u6bcd\u89aa\u306fMSK Clinical Cytogenetics Laboratory\u3067\u5b9f\u65bd\u3055\u308c\u305fSNP\u30a2\u30ec\u30a4\u306b\u57fa\u3065\u304fDNA\u30b3\u30d4\u30fc\u6570\u5206\u6790(Affymetrix CytoScan HD Assay)\u306b\u5bfe\u3059\u308b\u8ffd\u52a0\u306e\u30a4\u30f3\u30d5\u30a9\u30fc\u30e0\u30c9\u30b3\u30f3\u30bb\u30f3\u30c8\u3092\u63d0\u4f9b\u3057\u305f\u3002<\/p>\n<\/div><\/div>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\"><div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/app\/registration\/\"><\/p>\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u78ba\u304b\u306a\u30c7\u30fc\u30bf\u306b\u57fa\u3065\u3044\u305f\u9078\u629e<br \/>\u5b89\u5fc3\u306e<span>NIPT\u691c\u67fb<\/span><\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p><\/a>\n<\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"\u907a\u4f1d\u5b50\u691c\u67fb\u306e\u7d50\u679c\"><span class=\"ez-toc-section\" id=\"%E9%81%BA%E4%BC%9D%E5%AD%90%E6%A4%9C%E6%9F%BB%E3%81%AE%E7%B5%90%E6%9E%9C\"><\/span>\u907a\u4f1d\u5b50\u691c\u67fb\u306e\u7d50\u679c<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u907a\u4f1d\u5b50\u691c\u67fb\u306b\u3088\u308a\u3001MSH6\u3001MSH2\u3001\u304a\u3088\u3073EPCAM\u907a\u4f1d\u5b50\u306e\u30d8\u30c6\u30ed\u63a5\u5408\u306e\u5b8c\u5168<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u907a\u4f1d\u5b50\u6b20\u5931<\/a>\u304c\u660e\u3089\u304b\u306b\u306a\u3063\u305f\u3002 \u3053\u306e\u77e5\u898b\u306b\u57fa\u3065\u304d\u3001SNP\u30a2\u30ec\u30a4\u306b\u57fa\u3065\u304fDNA\u30b3\u30d4\u30fc\u6570\u5206\u6790\u3092\u884c\u3044\u30012p16.3\u2010p21\u30674.8Mb\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\u3092\u540c\u5b9a\u3057\u305f\u3002 3\u3064\u306e\u30ea\u30f3\u30c1\u75c7\u5019\u7fa4\u95a2\u9023\u907a\u4f1d\u5b50\u306b\u52a0\u3048\u3066\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\u3057\u305f\u67d3\u8272\u4f53\u30bb\u30af\u30b7\u30e7\u30f3\u306b\u306f\u4ee5\u4e0b\u306e24\u500b\u306e\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u308b: PRKCE\u3001EPAS1\u3001TMEMAS247\u3001ATPV1E2\u3001HORQ\u3001PIGF\u3001CRIPT\u3001SOCS5\u3001LOC38948\u3001LOC100134259\u3001MCFD2\u3001TTC7A\u3001C2orf61\u3001CLM2\u3001MIR559\u3001KCNK12\u3001FBXO11\u3001FOXN2\u3001PPP1R21\u3001STON1\u3001GTF2A1L\u3001LHCGR\u3001FSHR\u3001\u304a\u3088\u3073NRXN1(<strong>\u56f31b<\/strong>)\u3002<\/p>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<h2 class=\"wp-block-heading\" id=\"\u81e8\u5e8a\u30b7\u30fc\u30af\u30a8\u30e9\"><span class=\"ez-toc-section\" id=\"%E8%87%A8%E5%BA%8A%E3%82%B7%E3%83%BC%E3%82%AF%E3%82%A8%E3%83%A9\"><\/span>\u81e8\u5e8a\u30b7\u30fc\u30af\u30a8\u30e9<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>MSH6\u3001MSH2\u3001\u304a\u3088\u3073EPCAM\u907a\u4f1d\u5b50\u306e\u5b8c\u5168\u306a<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u907a\u4f1d\u5b50\u6b20\u5931<\/a>\u306e\u6700\u521d\u306e\u6240\u898b\u306b\u57fa\u3065\u304d\u3001\u30ea\u30f3\u30c1\u75c7\u5019\u7fa4\u306e\u8a3a\u65ad\u3092\u4e0b\u3057\u305f\u3002 \u7570\u6642\u6027\u5927\u8178\u304c\u3093\u306e\u30ea\u30b9\u30af\u304c\u9ad8\u304f\u3001\u5927\u8178\u5185\u8996\u93e1\u691c\u67fb\u306e\u305f\u3081\u306e\u8178\u306e\u6e96\u5099\u3092\u9075\u5b88\u3059\u308b\u3053\u3068\u304c\u56f0\u96e3\u3067\u3042\u308b\u3053\u3068\u3092\u8003\u616e\u3057\u3066\u3001\u56de\u8178\u76f4\u8178\u543b\u5408\u8853\u3092\u4f34\u3046\u7d50\u8178\u5168\u6458\u8853\u306e\u9078\u629e\u80a2\u304c\u8b70\u8ad6\u3055\u308c\u3001\u69d8\u3005\u306a\u5916\u79d1\u7684\u30a2\u30d7\u30ed\u30fc\u30c1\u306e\u30ea\u30b9\u30af\u3068\u5229\u76ca\u3092\u8003\u616e\u3057\u305f\u5f8c\u3001\u5bb6\u65cf\u306b\u53d7\u3051\u5165\u308c\u3089\u308c\u305f\u3002<\/p>\n\n\n\n<p>\u76f4\u8178\u90e8\u5206\u5207\u9664\u8853\u304a\u3088\u3073\u56de\u8178\u4e2d\u90e8\u76f4\u8178\u543b\u5408\u8853\u3092\u4f34\u3046\u30ed\u30dc\u30c3\u30c8\u5f0f\u5927\u8178\u5168\u6458\u8853\u3092\u53d7\u3051\u305f\u3002 \u5916\u79d1\u7684\u75c5\u7406\u5b66\u7684\u691c\u67fb\u306b\u3088\u308a\u3001\u30ea\u30f3\u30d1\u7ba1\u6d78\u6f64\u3092\u4f34\u3046pT3N1M0\u4f4e\u5206\u5316\u578b\u76f4\u8178S\u72b6\u7d50\u8178\u817a\u764c\u304c\u78ba\u8a8d\u3055\u308c\u3001\u816b\u760d\u6d78\u6f64\u30ea\u30f3\u30d1\u7403\u306e\u5897\u52a0\u304c\u8a8d\u3081\u3089\u308c\u305f;42\u500b\u306e\u30ea\u30f3\u30d1\u7bc0\u306e\u3046\u30612\u500b\u304c\u75be\u60a3\u967d\u6027\u3067\u3042\u3063\u305f\u3002 \u7c98\u819c\u5185\u764c\u3092\u4f34\u3046\u5225\u500b\u306e\u7ba1\u72b6\u7d68\u6bdb\u817a\u816b\u3082\u8a8d\u3081\u3089\u308c\u305f\u3002 IHC\u67d3\u8272\u3067\u306f\u3001MSH2\u304a\u3088\u3073MSH6\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u767a\u73fe\u306f\u8a8d\u3081\u3089\u308c\u306a\u304b\u3063\u305f\u304c\u3001MLH1\u304a\u3088\u3073PMS2\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u767a\u73fe\u306f\u6b63\u5e38\u3067\u3042\u3063\u305f(<strong>\u56f32a-d<\/strong>)\u3002 \u60a3\u8005\u306f\u9806\u8abf\u306a\u5916\u79d1\u7684\u56de\u5fa9\u3092\u793a\u3057\u3001\u30ab\u30da\u30b7\u30bf\u30d3\u30f3\u304a\u3088\u3073\u30aa\u30ad\u30b5\u30ea\u30d7\u30e9\u30c1\u30f3(CAPEOX)\u3092\u542b\u3080\u88dc\u52a9\u5316\u5b66\u7642\u6cd5\u3092\u53d7\u3051\u305f\u3002 \u5316\u5b66\u7642\u6cd5\u306f\u3001\u8840\u5c0f\u677f\u6e1b\u5c11\u75c7\u304a\u3088\u3073\u8ca7\u8840\u3092\u542b\u3080\u7d2f\u7a4d\u526f\u4f5c\u7528\u306e\u305f\u3081\u3001\u65e9\u671f\u306b\u4e2d\u6b62\u3055\u308c\u305f\u3002<\/p>\n\n\n\n<p>\u60a3\u8005\u306f\u6700\u7d42\u7684\u306b\u3001\u795e\u7d4c\u6e29\u5b58\u4e21\u5074\u30ea\u30f3\u30d1\u7bc0\u90ed\u6e05\u3092\u4f34\u3046\u6065\u9aa8\u5f8c\u6839\u6cbb\u7684\u524d\u7acb\u817a\u6458\u9664\u8853\u3092\u53d7\u3051\u305f\u3002 \u75c5\u7406\u5b66\u7684\u306b\u306f\u30015\u500b\u306e\u826f\u6027\u30ea\u30f3\u30d1\u7bc0\u3092\u6709\u3059\u308bpT3a\u591a\u4e2d\u5fc3\u6027\u30b0\u30ea\u30bd\u30f37(3+4)\u6d78\u6f64\u6027\u817a\u764c\u304c\u660e\u3089\u304b\u306b\u306a\u3063\u305f\u3002 IHC\u67d3\u8272\u3067\u306f\u3001MSH2\u304a\u3088\u3073MSH6\u86cb\u767d\u8cea\u767a\u73fe\u306f\u8a8d\u3081\u3089\u308c\u306a\u304b\u3063\u305f\u304c\u3001MLH1\u304a\u3088\u3073PMS2\u86cb\u767d\u8cea\u306e\u767a\u73fe\u306f\u6b63\u5e38\u3067\u3042\u3063\u305f(<strong>\u56f32e-h<\/strong>)\u3002<\/p>\n\n\n\n<p>\u7d4c\u904e\u89b3\u5bdf\u306e\u81e8\u5e8a\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u306f\u3001\u96a3\u63a5\u3059\u308b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u907a\u4f1d\u5b50\u6b20\u5931<\/a>\u304c\u60a3\u8005\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3068\u30ea\u30f3\u30c1\u75c7\u5019\u7fa4\u306e\u4e21\u65b9\u306e\u539f\u56e0\u3067\u3042\u308b\u3068\u63a8\u5b9a\u3055\u308c\u308b\u3053\u3068\u304c\u8b70\u8ad6\u3055\u308c\u305f\u3002 \u3055\u3089\u306b\u3001\u5927\u8178\u304c\u3093\u304a\u3088\u3073\u524d\u7acb\u817a\u304c\u3093\u306e\u3044\u305a\u308c\u306b\u304a\u3044\u3066\u3082MSH2\u304a\u3088\u3073MSH6\u30bf\u30f3\u30d1\u30af\u8cea\u767a\u73fe\u304c\u8a8d\u3081\u3089\u308c\u306a\u3044\u3053\u3068\u3092\u8003\u3048\u308b\u3068\u3001\u3044\u305a\u308c\u306e\u304c\u3093\u3082\u30ea\u30f3\u30c1\u75c7\u5019\u7fa4\u306b\u8d77\u56e0\u3059\u308b\u3002 \u540c\u5b9a\u3055\u308c\u305f\u96a3\u63a5<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u907a\u4f1d\u5b50\u6b20\u5931<\/a>\u306f\u304a\u305d\u3089\u304f\u65b0\u898f\u8d77\u6e90\u3067\u3042\u308b\u304c\u3001\u60a3\u8005\u306e\u7b2c\u4e00\u5ea6\u8fd1\u89aa\u8005\u306b\u306f\u500b\u5225\u5316\u3055\u308c\u305f\u907a\u4f1d\u7684\u30ea\u30b9\u30af\u8a55\u4fa1\u304c\u63a8\u5968\u3055\u308c\u305f\u3002<\/p>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<h2 class=\"wp-block-heading\" id=\"\u8003\u5bdf\"><span class=\"ez-toc-section\" id=\"%E8%80%83%E5%AF%9F\"><\/span>\u8003\u5bdf<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u5bb6\u65cf\u6027\u5927\u8178\u817a\u816b\u75c7[<a href=\"#reference04\">4<\/a>, <a href=\"#reference05\">5<\/a>]\u306a\u3069\u306e\u907a\u4f1d\u6027\u304c\u3093\u7d20\u56e0\u75c7\u5019\u7fa4\u306e\u72b6\u6cc1\u3067\u306f\u3001\u5148\u306b\u96a3\u63a5\u3059\u308b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u907a\u4f1d\u5b50\u6b20\u5931<\/a>\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u3002 \u8457\u8005\u3089\u306e\u5831\u544a\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u306e\u65e2\u5f80\u304c\u3042\u308a\u3001\u96a3\u63a5<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u907a\u4f1d\u5b50\u6b20\u5931<\/a>\u306e\u7d50\u679c\u30ea\u30f3\u30c1\u75c7\u5019\u7fa4\u3092\u6709\u3059\u308b\u3053\u3068\u304c\u5224\u660e\u3057\u305f\u65b0\u305f\u306a\u540c\u6642\u6027\u764c\u8a3a\u65ad\u3092\u6709\u3059\u308b\u6210\u4eba\u7537\u6027\u306b\u3064\u3044\u3066\u8ff0\u3079\u308b\u3002 \u6587\u732e\u306e\u30ec\u30d3\u30e5\u30fc\u304b\u3089\u30012p16p21\u3092\u5305\u542b\u3059\u308b\u985e\u4f3c\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\u3092\u6709\u3059\u308b\u5c11\u6570\u306e\u500b\u4f53\u304c\u65e2\u306b\u8a18\u8f09\u3055\u308c\u3066\u3044\u308b\u3002[<a href=\"#reference06\">6<\/a>\u3001<a href=\"#reference07\">7<\/a>\u3001<a href=\"#reference08\">8<\/a>\u3001<a href=\"#reference09\">9<\/a>\u3001<a href=\"#reference10\">10<\/a>](<strong>\u56f31c<\/strong>\u3001<strong>\u88681<\/strong>) \u8457\u8005\u3089\u306e\u60a3\u8005\u306e\u8eab\u4f53\u7684\u7279\u5fb4\u304a\u3088\u3073<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u306e\u30ec\u30d9\u30eb\u306f\u30012p16.2p21<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\u3092\u6709\u3059\u308b\u500b\u4eba\u306e\u904e\u53bb\u306e\u5831\u544a\u3068\u985e\u4f3c\u3057\u3066\u3044\u308b\u304c\u3001\u60a3\u8005\u306f\u8a18\u8ff0\u3055\u308c\u308b\u3079\u304d\u6700\u3082\u53e4\u3044\u7f79\u60a3\u500b\u4eba\u3067\u3042\u308b\u3002<\/p>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/app\/registration\/\"><\/p>\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u78ba\u304b\u306a\u30c7\u30fc\u30bf\u306b\u57fa\u3065\u3044\u305f\u9078\u629e<br \/>\u5b89\u5fc3\u306e<span>NIPT\u691c\u67fb<\/span><\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p><\/a>\n<\/div>\n<\/div>\n\n\n\n<p>4.8 Mb\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\u306b\u542b\u307e\u308c\u308b\u907a\u4f1d\u5b50\u3092\u30ec\u30d3\u30e5\u30fc\u3057\u305f\u3068\u3053\u308d\u3001\u591a\u304f\u306e\u907a\u4f1d\u5b50\u306b\u6f5c\u5728\u7684\u306a\u533b\u5b66\u7684\u610f\u7fa9\u304c\u8a8d\u3081\u3089\u308c\u305f(<strong>\u88682<\/strong>)\u3002 EPAS1\u3001MCFD2\u3001\u304a\u3088\u3073CALM2\u907a\u4f1d\u5b50\u306e\u7a81\u7136\u5909\u7570\u306f\u3001\u305d\u308c\u305e\u308c\u3001\u8d64\u8840\u7403\u5897\u52a0\u75c7\u30d5\u30a1\u30df\u30ea\u30fc4\u578b\u3001\u7b2cV\u56e0\u5b50\u304a\u3088\u3073\u7b2cVIII\u56e0\u5b50\u8907\u5408\u6b20\u640d\u75c7\u3001\u304a\u3088\u3073Long-QT\u75c7\u5019\u7fa4\u3068\u95a2\u9023\u3059\u308b\u3053\u3068\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u3002 \u8457\u8005\u3089\u306e\u60a3\u8005\u306f\u3001\u30a8\u30ea\u30b9\u30ed\u30dd\u30a8\u30c1\u30f3\u30ec\u30d9\u30eb\u304c\u6b63\u5e38\u3067\u3042\u308b\u6162\u6027\u814e\u75be\u60a3\u306b\u8d77\u56e0\u3059\u308b\u53ef\u80fd\u6027\u304c\u9ad8\u3044\u6b63\u8272\u7d20\u6027\u6b63\u7403\u6027\u8ca7\u8840\u3092\u793a\u3057\u305f\u304c\u3001\u8d64\u8840\u7403\u5897\u52a0\u5bb6\u65cf\u60274\u578b\u306e\u8a3c\u62e0\u306f\u306a\u304b\u3063\u305f\u3002 \u5fc3\u96fb\u56f3\u306fQT\u5ef6\u9577\u75c7\u5019\u7fa4\u3092\u793a\u3055\u306a\u304b\u3063\u305f\u3002 \u308f\u308c\u308f\u308c\u306f\u3001\u907a\u4f1d\u5b50\u578b-\u8868\u73fe\u578b\u6a5f\u5e8f\u304c\u3001\u60a3\u8005\u304c\u3053\u308c\u3089\u306e\u72b6\u614b\u3092\u767a\u73fe\u3057\u306a\u3044\u7406\u7531\u3092\u8aac\u660e\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u3068\u3044\u3046\u4eee\u8aac\u3092\u7acb\u3066\u308b\u3002 \u8d64\u8840\u7403\u5897\u52a0\u5bb6\u65cf\u60274\u578b\u306f\u3001EPAS1(HGNC ID #3374)\u306b\u304a\u3051\u308b\u6709\u5bb3\u306a\u7a81\u7136\u5909\u7570\u3068\u306f\u5bfe\u7167\u7684\u306b\u3001\u6d3b\u6027\u5316\u3068\u95a2\u9023\u3057\u3066\u3044\u308b\u3002 \u540c\u69d8\u306b\u3001MCFD2\u304a\u3088\u3073CALM2\u907a\u4f1d\u5b50\u306b\u304a\u3051\u308b\u8a18\u8f09\u3055\u308c\u305f\u5909\u5316\u306b\u306f\u3001\u30b9\u30d7\u30e9\u30a4\u30b9\u90e8\u4f4d\u3001\u30d5\u30ec\u30fc\u30e0\u30b7\u30d5\u30c8\u304a\u3088\u3073\u30df\u30b9\u30bb\u30f3\u30b9\u7a81\u7136\u5909\u7570\u304c\u542b\u307e\u308c\u3066\u3044\u308b\u304c\u3001\u6a5f\u80fd\u6b20\u5931\u306f\u542b\u307e\u308c\u3066\u3044\u306a\u3044(\u305d\u308c\u305e\u308c\u3001HGNC ID # 18451\u304a\u3088\u30731445)\u30022p16p21<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\u3092\u6709\u3059\u308b\u4ee5\u524d\u306b\u8a18\u8f09\u3055\u308c\u305f\u60a3\u8005\u3082\u767a\u9054\u9045\u5ef6\/<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3092\u7d4c\u9a13\u3057\u3001\u6211\u3005\u306e\u60a3\u8005\u306b\u304a\u3044\u3066<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\u3059\u308b\u3053\u3068\u304c\u898b\u51fa\u3055\u308c\u305fCRIPT\u304a\u3088\u3073NRXN1\u306e\u5c11\u306a\u304f\u3068\u30822\u3064\u306e\u907a\u4f1d\u5b50\u304c\u4e2d\u67a2\u795e\u7d4c\u7cfb\u6b20\u640d\u3068\u95a2\u9023\u3057\u3066\u3044\u308b\u3053\u3068\u3092\u8003\u616e\u3059\u308b\u3068\u3001\u3053\u306e\u60a3\u8005\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u306e\u75c5\u6b74\u306f\u540c\u5b9a\u3055\u308c\u305f\u96a3\u63a5<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u907a\u4f1d\u5b50\u6b20\u5931<\/a>\u306b\u95a2\u9023\u3057\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u9ad8\u3044\u3068\u8003\u3048\u3089\u308c\u308b\u3002 \u6ce8\u76ee\u3059\u3079\u304d\u3053\u3068\u306b\u3001\u8457\u8005\u3089\u306e\u60a3\u8005\u3067\u540c\u5b9a\u3055\u308c\u305f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931<\/a>\u306f27<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u907a\u4f1d\u5b50\u306e\u6b20\u5931<\/a>\u3092\u751f\u3058\u305f\u304c\u3001SIX3\u907a\u4f1d\u5b50\u306f\u542b\u307e\u308c\u306a\u304b\u3063\u305f\u3002 \u4ee5\u524d\u306e\u5831\u544a\u306e\u3044\u304f\u3064\u304b\u3067\u306f\u3001SIX3\u306f\u5168\u524d\u8133\u75c7\u3068\u95a2\u9023\u3057\u3066\u3044\u308b\u3053\u3068\u304c\u6307\u6458\u3055\u308c\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<p>\u30ea\u30f3\u30c1\u75c7\u5019\u7fa4\u306b\u95a2\u3057\u3066\u3001\u672c\u75c7\u4f8b\u306f\u307e\u305f\u3001\u7570\u6642\u6027\u5927\u8178\u304c\u3093\u306e\u30ea\u30b9\u30af\u3092\u8003\u616e\u3057\u305f\u5916\u79d1\u7684\u7ba1\u7406\u306b\u95a2\u3059\u308b\u60c5\u5831\u306b\u57fa\u3065\u304f\u610f\u601d\u6c7a\u5b9a\u306e\u91cd\u8981\u6027\u3092\u5f37\u8abf\u3057\u3066\u3044\u308b\u3002 Parry\u3089 MMR\u907a\u4f1d\u5b50\u5909\u7570\u3092\u6709\u3059\u308b\u88ab\u9a13\u800550\u4eba\u306e\u30b3\u30db\u30fc\u30c8\u306b\u304a\u3044\u3066\u3001\u300c\u5e83\u7bc4\u306a\u7d50\u8178\u5207\u9664\u8853\u300d(\u300c\u56de\u8178\u76f4\u8178\u543b\u5408\u8853\u3092\u4f34\u3046\u7d50\u8178\u5168\u6458\u8853\u304a\u3088\u3073\u56de\u8178S\u72b6\u7d50\u8178\u543b\u5408\u8853\u3092\u4f34\u3046\u7d50\u8178\u4e9c\u5168\u6458\u8853\u300d\u3068\u5b9a\u7fa9)\u5f8c\u306b\u7570\u6642\u6027\u764c\u306f\u8a8d\u3081\u3089\u308c\u306a\u304b\u3063\u305f\u306e\u306b\u5bfe\u3057\u3001\u533a\u57df\u5207\u9664\u8853\u3092\u53d7\u3051\u305f\u7a81\u7136\u5909\u7570\u30ad\u30e3\u30ea\u30a2332\u4eba\u3067\u306f\u7570\u6642\u6027\u5927\u8178\u764c\u306f74\u4eba\u3067\u3042\u3063\u305f<a href=\"#reference11\">[11]<\/a>\u3002 \u3053\u306e\u75c7\u4f8b\u3067\u306f\u3001\u5bb6\u65cf\u304c\u7d50\u8178\u5168\u6458\u8853\u3092\u9032\u3081\u308b\u6c7a\u5b9a\u306b\u306f\u3001\u5c06\u6765\u306e\u304c\u3093\u30ea\u30b9\u30af\u3001\u7d99\u7d9a\u4e2d\u306e\u5e741\u56de\u306e\u7d50\u8178\u93e1\u691c\u67fb\u306e\u5fc5\u8981\u6027\u3001\u751f\u6d3b\u306e\u8cea\u306b\u95a2\u3059\u308b\u8003\u616e\u304c\u542b\u307e\u308c\u3066\u3044\u305f\u3002 \u672c\u75c7\u4f8b\u306b\u4f8b\u793a\u3055\u308c\u308b\u5225\u306e\u70b9\u306f\u3001\u524d\u7acb\u817a\u304c\u3093\u3068\u30ea\u30f3\u30c1\u75c7\u5019\u7fa4\u3068\u306e\u95a2\u9023\u3067\u3042\u308b\u3002 \u76f8\u53cd\u3059\u308b\u30c7\u30fc\u30bf\u306f\u5b58\u5728\u3059\u308b\u304c\u3001Raymond\u3089\u306e\u7814\u7a76\u304c\u3042\u308b\u3002 \u4e00\u822c\u96c6\u56e3\u3068\u6bd4\u8f03\u3057\u3066\u3001\u30ea\u30f3\u30c1\u75c7\u5019\u7fa4\u7a81\u7136\u5909\u7570\u30ad\u30e3\u30ea\u30a2\u306b\u304a\u3051\u308b\u524d\u7acb\u817a\u304c\u3093\u306e\u5168\u30cf\u30b6\u30fc\u30c9\u6bd4\u306f1.99(95% CI\u30011.31~3.03; P = 0.0013)\u3068\u7b97\u51fa\u3055\u308c\u305f<a href=\"#reference12\">[12]<\/a>\u3002 \u5b9f\u969b\u3001\u60a3\u8005\u306e\u524d\u7acb\u817a\u304c\u3093\u7d44\u7e54\u306b\u304a\u3051\u308bDNA\u30df\u30b9\u30de\u30c3\u30c1\u4fee\u5fa9\u86cb\u767d\u8cea\u306e\u514d\u75ab\u7d44\u7e54\u5316\u5b66\u7684\u67d3\u8272\u306f\u3001\u30ea\u30f3\u30c1\u75c7\u5019\u7fa4<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u907a\u4f1d\u5b50\u6b20\u5931<\/a>\u304c\u60a3\u8005\u306e\u524d\u7acb\u817a\u304c\u3093\u767a\u751f\u306b\u304a\u3044\u3066\u5f79\u5272\u3092\u679c\u305f\u3057\u3066\u3044\u308b\u3053\u3068\u3092\u793a\u5506\u3059\u308bMSH2\u304a\u3088\u3073MSH6\u86cb\u767d\u8cea\u306e\u6b20\u5931\u3092\u660e\u3089\u304b\u306b\u3057\u305f\u3002 \u6700\u5f8c\u306b\u3001\u60a3\u8005\u306e\u6700\u521d\u306e\u76f4\u8178S\u72b6\u7d50\u8178\u817a\u764c\u751f\u691c\u3067\u306fMSH6\u86cb\u767d\u306e\u307f\u304c\u8a8d\u3081\u3089\u308c\u306a\u304b\u3063\u305f\u304c\u3001\u751f\u691c\u6a19\u672c\u3067\u5831\u544a\u3055\u308c\u305fMSH2\u306e\u4fdd\u6301\u306f\u3001\u30a8\u30c3\u30b8\u30a2\u30fc\u30c1\u30d5\u30a1\u30af\u30c8\u306a\u3069\u306e\u6280\u8853\u7684\u554f\u984c\u306b\u3088\u308b\u53ef\u80fd\u6027\u304c\u9ad8\u3044\u3068\u8003\u3048\u3089\u308c\u308b\u3002 \u60a3\u8005\u306e\u76f4\u8178S\u72b6\u7d50\u8178\u817a\u764c\u5207\u9664\u6a19\u672c\u306eMMR IHC\u5206\u6790\u3067\u306f\u3001MSH2\u304a\u3088\u3073MSH6\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u4e21\u65b9\u304c\u8a8d\u3081\u3089\u308c\u305a\u3001\u60a3\u8005\u304c\u540c\u5b9a\u3057\u305f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u907a\u4f1d\u5b50\u6b20\u5931<\/a>\u3092\u53cd\u6620\u3057\u3066\u3044\u305f\u3002<\/p>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/app\/registration\/\"><\/p>\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u78ba\u304b\u306a\u30c7\u30fc\u30bf\u306b\u57fa\u3065\u3044\u305f\u9078\u629e<br \/>\u5b89\u5fc3\u306e<span>NIPT\u691c\u67fb<\/span><\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p><\/a>\n<\/div>\n<\/div>\n\n\n\n<p>\u67d3\u8272\u4f532p16.3\u2010p21\u306b\u304a\u3051\u308b\u96a3\u63a5<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u907a\u4f1d\u5b50\u6b20\u5931<\/a>\u306e\u8457\u8005\u3089\u306e\u5831\u544a\u306f\u3001\u4ee5\u524d\u306b\u5831\u544a\u3055\u308c\u305f\u75c7\u4f8b\u3068\u5f37\u3044\u985e\u4f3c\u6027\u3092\u793a\u3057\u305f\u3002 \u3053\u306e\u60a3\u8005\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u306e\u75c5\u56e0\u306e\u8abf\u67fb\u306f\u3053\u308c\u307e\u3067\u884c\u308f\u308c\u3066\u3044\u306a\u304b\u3063\u305f\u3002 \u3088\u308a\u6700\u8fd1\u958b\u767a\u3055\u308c\u305f\u6280\u8853\u306f\u3001\u60a3\u8005\u304c\u5c0f\u5150\u3067\u3042\u3063\u305f\u3068\u304d\u306b\u306f\u5229\u7528\u3067\u304d\u306a\u304b\u3063\u305f\u304c\u3001\u9593\u8cea\u6027<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u67d3\u8272\u4f53\u6b20\u5931<\/a>\u3092\u691c\u51fa\u3059\u308b\u80fd\u529b\u3092\u3082\u305f\u3089\u3057\u305f\u3002 \u540c\u5b9a\u3055\u308c\u305f\u96a3\u63a5<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u907a\u4f1d\u5b50\u6b20\u5931\u75c7\u5019\u7fa4<\/a>\u306f\u3001\u60a3\u8005\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3001\u5f62\u614b\u7570\u5e38\u306e\u7279\u5fb4\u3001\u304a\u3088\u3073\u764c\u306e\u8a3a\u65ad\u306e\u53ef\u80fd\u6027\u306e\u3042\u308b\u8aac\u660e\u3092\u63d0\u4f9b\u3057\u3066\u3044\u308b\u3002 \u767a\u9054\u9045\u6ede\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3001\u5148\u5929\u7570\u5e38\u306e\u3042\u308b\u5c0f\u5150\u304c\u5148\u9032\u7684\u306a\u907a\u4f1d\u5b50\u6280\u8853\u3092\u7528\u3044\u3066\u8a55\u4fa1\u3055\u308c\u308b\u306b\u3064\u308c\u3066\u3001\u304c\u3093\u7d20\u56e0\u907a\u4f1d\u5b50\u3092\u542b\u3080\u67d3\u8272\u4f53\u518d\u69cb\u6210\u306e\u3055\u3089\u306a\u308b\u75c7\u4f8b\u304c\u540c\u5b9a\u3055\u308c\u308b\u53ef\u80fd\u6027\u304c\u9ad8\u3044\u3002 \u533b\u7642\u63d0\u4f9b\u8005\u3001\u60a3\u8005\u304a\u3088\u3073\u305d\u306e\u4ecb\u8b77\u8005\u306f\u3001\u305d\u306e\u3088\u3046\u306a\u8a3a\u65ad\u306e\u8a2d\u5b9a\u306b\u304a\u3051\u308b\u95a2\u9023\u3059\u308b\u304c\u3093\u30ea\u30b9\u30af\u3092\u8a8d\u8b58\u3059\u308b\u3053\u3068\u304c\u91cd\u8981\u3067\u3042\u308a\u3001\u305d\u308c\u306b\u3088\u308a\u3001\u9069\u5207\u306a\u5e74\u9f62\u3067\u3001\u96c6\u4e2d\u7684\u306a\u304c\u3093\u30b5\u30fc\u30d9\u30a4\u30e9\u30f3\u30b9\u3001\u4e88\u9632\u7684\u51e6\u7f6e\u3001\u304a\u3088\u3073\u5316\u5b66\u4e88\u9632\u306e\u3088\u3046\u306a\u9069\u5207\u306a\u533b\u5b66\u7684\u7ba1\u7406\u3092\u691c\u8a0e\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u308b\u3002<\/p>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<h2 class=\"wp-block-heading\" id=\"\u8b1d\u8f9e\"><span class=\"ez-toc-section\" id=\"%E8%AC%9D%E8%BE%9E\"><\/span>\u8b1d\u8f9e<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u672c\u7814\u7a76\u306f\u3001Romeo Milio Lynch Syndrome Foundation\u3001Kate and Robert Niehaus Clinical Genetics Initiative\u3001\u304a\u3088\u3073NIH\/NCI Cancer Center Support Grant P30 CA008748\u304b\u3089\u4e00\u90e8\u8cc7\u91d1\u63d0\u4f9b\u3092\u53d7\u3051\u305f\u3002<\/p>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<h2 class=\"wp-block-heading\" id=\"\u53c2\u8003\u6587\u732e\"><span class=\"ez-toc-section\" id=\"%E5%8F%82%E8%80%83%E6%96%87%E7%8C%AE\"><\/span>\u53c2\u8003\u6587\u732e<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><a name=\"reference01\"><\/a>1.Lynch HT, Lynch PM, Lanspa SJ, Snyder CL, Lynch JF, Boland CR. \u30ea\u30f3\u30c1\u75c7\u5019\u7fa4\u306e\u30ec\u30d3\u30e5\u30fc:\u75c5\u6b74\u3001\u5206\u5b50\u907a\u4f1d\u5b66\u3001\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3001\u9451\u5225\u8a3a\u65ad\u3001\u304a\u3088\u3073\u533b\u5b66\u7684\u8ee2\u5e30\u3002 \u30af\u30ea\u30f3\u30fb\u30b8\u30a7\u30cd\u30c3\u30c8 2009; 76(1):1\u201318.<br>\n<a name=\"reference02\"><\/a>2.Nussbaum, RL., McInnes, RR., Williard, HF. Thompson\u3068Thompson Genetics in Medicine\u3002 6.Saunders\/Elsevier; Philadelphia: 2004. p. 164-165.<br>\n<a name=\"reference03\"><\/a>3.Adams SA, Coppinger J, Saitta SC, Stroud T, Kandamurugu M, Fan Z, Ballif BC, Shaffer LG,Bejjani BA. \u907a\u4f1d\u5b50\u578b\u521d\u56de\u8a3a\u65ad\u306e\u5f71\u97ff:aCGH\u306b\u3088\u308b\u764c\u7d20\u56e0\u3092\u4f34\u3046<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u304a\u3088\u3073\u5fae\u5c0f\u91cd\u8907\u75c7\u5019\u7fa4\u306e\u691c\u51fa\u3002 Genet Med. 2009; 11(5):314\u2013322. [PubMed:19365269]<br>\n<a name=\"reference04\"><\/a>4.Herrera L, Kakati S, Gibas L, Pietrzak K, Sandberg AA. 5q\u306e\u9593\u8cea\u6b20\u5931\u306e\u3042\u308b\u7537\u6027\u306b\u304a\u3051\u308b\u30ac\u30fc\u30c9\u30ca\u30fc\u75c7\u5019\u7fa4 Am J Med Genet. 1986; 25(3):473\u2013476. [PubMed: 3789010]<br>\n<a name=\"#reference05\"><\/a>5.Raedle J, Friedl W, Engels H, Koenig R, Trojan J, Zeuzem S. A de novo de novo chromosome delletementation of chromosome q5\u304c\u5bb6\u65cf\u6027\u5927\u8178\u817a\u816b\u75c7\u3001\u5f62\u614b\u7570\u5e38\u3001\u8efd\u5ea6\u306e\u7cbe\u795e\u9045\u6ede\u3092\u5f15\u304d\u8d77\u3053\u3059\u3002 Am JGastroenterol. 2001; 96(10):3016\u20133020. [PubMed: 11693343]<br>\n<a name=\"reference06\"><\/a>6.Petit P, Fryns JP. \u30de\u30fc\u30ab\u30fc\u67d3\u8272\u4f53\u5f62\u6210\u3092\u4f34\u3046\u9593\u8cea\u6b20\u59312p\u306f\u6b20\u5931\u30bb\u30b0\u30e1\u30f3\u30c8\u306e\u5f62\u6210\u3092\u4f34\u3044\u3001\u5b89\u5b9a\u306a\u7121\u52d5\u539f\u4f53\u30de\u30fc\u30ab\u30fc\u67d3\u8272\u4f53\u3092\u751f\u3058\u308b\u3002 \u30b8\u30a7\u30cd\u30c3\u30c8\u30fb\u30af\u30fc\u30f3\u30ba 1997; 8(4):341-343.[PubMed: 9457505]<br>\n<a name=\"reference07\"><\/a>7.Sanders SR, Dawson AJ, Vust A, Hryshko M, Tomiuk M, Riordan D, Prasad C. \u67d3\u8272\u4f532p16.2p21\u306e\u9593\u8cea\u6027\u6b20\u5931\u3002 \u30af\u30ea\u30f3\u30b8\u30b9\u30e2\u30eb\u30d5\u30a9\u30fc\u30eb\u3002 2003; 12(3):183\u2013185. [PubMed: 14564157]<br>\n<a name=\"reference08\"><\/a>8.Lucci-Cordisco E, Zollino M, Baglioni S, Mancuso I, Lecce R, Gurrieri F, Crucitti A, Papi L, NeriG, Genuardi M. MSH2\u907a\u4f1d\u5b50\u5ea7\u306e\u55aa\u5931\u3092\u4f34\u3046\u65b0\u898f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u75c7\u5019\u7fa4\u304a\u3088\u3073\u907a\u4f1d\u6027\u975e\u30dd\u30ea\u30dd\u30fc\u30b7\u30b9\u5927\u8178\u304c\u3093\u3002 \u30af\u30ea\u30f3\u30fb\u30b8\u30a7\u30cd\u30c3\u30c8 2004; 67(2):178\u2013182.<br>\n<a name=\"reference09\"><\/a>9.Collins DL, Schimke RN. CHG\u30a2\u30ec\u30a4\u306b\u3088\u308a\u691c\u51fa\u3055\u308c\u305f\u304c\u3093\u7d20\u56e0\u306b\u3064\u3044\u3066\u3002 Genet Med.2011; 13(11):982. [PubMed: 22051689]<br>\n<a name=\"reference10\"><\/a>10.Morton, SA (Adams), Coppinger, J., Ballif, BC., Shaffer, LG., Ellison, JW., Saitta, SC., Stroud, T.,Manickam, K., Fan, Z. Response to the letter by Collins and Schimke. Genet Med. 2011; 13(11):982\u2013983. [PubMed: 22051689]<br>\n<a name=\"reference11\"><\/a>11.Parry S, Win AK, Parry B, Macrae FA, Gurrin LC, Church JM, Baron JA, Giles GG, Leggett BA,Winship I, Lipton L, Young GP, Young JP, Lodge CJ, Southey MC, Newcomb PA, Le Marchand L,Haile RW, Lindor NM, Gallinger S, Hopper JL, Jenkins MA. \u30df\u30b9\u30de\u30c3\u30c1\u4fee\u5fa9\u907a\u4f1d\u5b50\u7a81\u7136\u5909\u7570\u30ad\u30e3\u30ea\u30a2\u306b\u5bfe\u3059\u308b\u7570\u6642\u6027\u5927\u8178\u304c\u3093\u306e\u30ea\u30b9\u30af:\u3088\u308a\u5e83\u7bc4\u306a\u7d50\u8178\u624b\u8853\u306e\u5229\u70b9\u3002 \u6d88\u5316\u7ba12011; 60(7):950-957\u3002 [PubMed: 21193451]<br>\n<a name=\"reference12\"><\/a>12.Raymond VM, Mukherjee B, Wang F, Huang SC, Stoffel EM, Kastrinos F, Syngal S, Cooney KA,Gruber SB. \u30ea\u30f3\u30c1\u75c7\u5019\u7fa4\u306e\u7537\u6027\u306b\u304a\u3051\u308b\u524d\u7acb\u817a\u304c\u3093\u30ea\u30b9\u30af\u306e\u4e0a\u6607\u3002 J Clin Oncol. 2013;31(14):1713\u20131718. [PubMed: 23530095]<\/p>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<figure class=\"wp-block-image size-large\"><img decoding=\"async\" width=\"800\" height=\"579\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/2p16-a.jpg\" alt=\"\" class=\"wp-image-18213\"\/><\/figure>\n\n\n\n<p><strong>\u56f31<\/strong> <strong>1a<\/strong>)\u624b\u6307\u304a\u3088\u3073\u8db3\u6307\u306e\u77ed\u6307\u75c7(<strong>1a-1<\/strong>\u304a\u3088\u3073<strong>1a-2<\/strong>)\u3001\u624b\u638c\u6a2a\u3072\u3060(<strong>1a-1<\/strong>)\u3001\u8db3\u5e95\u306e\u8272\u7d20\u6c88\u7740\u904e\u5270\u3092\u4f34\u3046\u5e83\u304f\u5c0f\u3055\u306a\u8db3(<strong>1a-3<\/strong>)<br><strong>1b<\/strong>)\u67d3\u8272\u4f532\u306ep\u30a2\u30fc\u30e0\u5168\u4f53\u306eDNA\u30b3\u30d4\u30fc\u6570(log2\u6bd4)\u304a\u3088\u3073\u5bfe\u7acb\u907a\u4f1d\u5b50\u30d4\u30fc\u30af\u30d7\u30ed\u30d5\u30a1\u30a4\u30eb\u3092\u793a\u3059\u767a\u7aef\u8005\u306e\u5199\u771f\u3001\u8d64\u3044\u68d2\u306f2p16.3-p21\u3067\u306e\u9593\u8cea\u6b20\u5931(~4.8Mb)\u3092\u793a\u3059\u3002<br><strong>1c<\/strong>)\u4ee5\u524d\u306b\u5831\u544a\u3055\u308c\u305f\u75c7\u4f8b\u3067\u540c\u5b9a\u3055\u308c\u305f\u9023\u7d9a\u7684\u306a\u907a\u4f1d\u5b50\u6b20\u5931\u3092\u793a\u3059\u67d3\u8272\u4f532\u306e\u30a2\u30cb\u30e1\u30fc\u30b7\u30e7\u30f3<\/p>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\"><div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"630\" height=\"1000\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/2p16-b.jpg\" alt=\"\" class=\"wp-image-18215\"\/><\/figure><\/div>\n\n\n<p><strong>\u56f32<\/strong> \u60a3\u8005\u306e\u7d50\u8178\u76f4\u8178\u817a\u764c(a\u3001H&amp;E)\u306f\u3001\u817a\u5f62\u6210\u6210\u5206(\u5de6\u4e0a)\u3068\u5145\u5b9f\u6027\u6210\u5206\u3092\u4f34\u3046\u6df7\u5408\u3057\u305f\u7d44\u7e54\u5b66\u7684\u30d1\u30bf\u30fc\u30f3\u3092\u793a\u3059\u3002 \u514d\u75ab\u7d44\u7e54\u5316\u5b66\u691c\u67fb\u3067\u306f\u3001\u816b\u760d\u306fPMS2(b)\u304a\u3088\u3073MLH1(\u56f3\u793a\u305b\u305a)\u306e\u6838\u67d3\u8272\u306e\u5b58\u5728\u3092\u793a\u3059\u304c\u3001MSH2(c)\u304a\u3088\u3073MSH6(d)\u306e\u67d3\u8272\u306f\u8a8d\u3081\u3089\u308c\u306a\u3044\u3002 \u60a3\u8005\u306e\u524d\u7acb\u817a\u817a\u764c\u306f\u7d44\u7e54\u5b66\u7684\u306b\u5178\u578b\u7684\u306a\u817a\u623f\u5358\u4f4d(e,H&amp;E)\u3092\u793a\u3059\u3002 \u514d\u75ab\u7d44\u7e54\u5316\u5b66\u7684\u691c\u67fb\u3067\u306f\u3001\u3053\u306e\u524d\u7acb\u817a\u304c\u3093\u306f\u307e\u305f\u3001PMS2(f)\u304a\u3088\u3073MLH1(\u56f3\u793a\u305b\u305a)\u306e\u6838\u67d3\u8272\u306e\u5b58\u5728\u3092\u793a\u3059\u304c\u3001MSH2(g)\u304a\u3088\u3073MSH6(h)\u306e\u67d3\u8272\u306f\u8a8d\u3081\u3089\u308c\u306a\u3044\u3002<\/p>\n<\/div><\/div>\n\n\n\n<section class=\"note_table\">\n<p><strong>\u88681<\/strong> 2p16p21\u9818\u57df\u3092\u542b\u3080\u6b20\u5931\u306e\u5831\u544a\u4f8b<\/p>\n<div class=\"table-sp-scroll\">\n<figure>\n<table>\n<colgroup>\n    <col style=\"width:10%\">\n    <col style=\"width:30%\">\n    <col style=\"width:30%\">\n    <col style=\"width:30%\">\n<\/colgroup>\n<thead>\n<tr>\n<th>\u53c2\u8003<\/th><th>\u524a\u9664<\/th><th>\u8868\u73fe\u578b\u306e\u8aac\u660e<\/th>\n<\/tr>\n<\/thead>\n<tbody>\n<tr>\n<td>Petit and Fryns 1997<\/td>\n<td>2p11p21+\u30a2\u30bb\u30d5\u30eb<\/td>\n<td>\u8efd\u5ea6\u306e\u7570\u5f62\u304a\u3088\u3073\u4e2d\u7b49\u5ea6\u306e\u7cbe\u795e\u9045\u6ede<\/td>\n<\/tr>\n<tr>\n<td>\u30b5\u30f3\u30c0\u30fc\u30b9\u3089 2003<\/td>\n<td>2p16.2p21<\/td>\n<td>\u5fc3\u623f\u4e2d\u9694\u6b20\u640d\u3001\u8efd\u5ea6\u306e\u672b\u68a2\u6a5f\u80fd\u4f4e\u4e0b\u3001\u9855\u8457\u306a\u9f3b\u6a4b\u3001\u9577\u3044\u6ed1\u3089\u304b\u306a\u597d\u4e2d\u7403\u3001\u8efd\u5ea6\u306e\u767a\u9054\u9045\u5ef6<\/td>\n<\/tr>\n<tr>\n<td>Lucci-Cordisco\u3089 2004<\/td>\n<td>2p16p21<\/td>\n<td>\u767a\u9054\u9045\u6ede\u3001\u601d\u6625\u671f\u65e9\u767a\u3001\u4f4e\u8eab\u9577\u3001\u984d\u304c\u72ed\u3044\u8fd1\u63a5\u982d\u84cb\u9aa8\u3001\u539a\u3044\u7709\u6bdb\u3092\u4f34\u3046\u5927\u304d\u306a\u6c34\u5e73\u773c\u3001\u9f3b\u5b54\u5f62\u6210\u4e0d\u5168\u3092\u4f34\u3046\u9855\u8457\u306a\u30b3\u30eb\u30e1\u30e9\u3001\u77ed\u6bcd\u6307\u3001\u5358\u7d14\u8033\u3001\u591a\u6bdb\u75c7\u3001\u5168\u8eab\u6027\u80a5\u6e80\u3001\u77ed\u6307\u75c7\u3001\u4e21\u5074\u7b2c2~\u7b2c3\u8dbe\u9593\u306e\u76ae\u819a\u5408\u6307\u75c7\u3001\u4e2d\u7b49\u5ea6\u306e\u7cbe\u795e\u9045\u6ede\u3001\u7d50\u8178\u817a\u764c(37\u6b73)<\/td>\n<\/tr>\n<tr>\n<td>\u30b3\u30ea\u30f3\u30ba\u30fb\u30b7\u30f3\u30af2011<\/td>\n<td>2p16.3p21<\/td>\n<td>\u767a\u9054\u9045\u6ede\u3001\u7cbe\u795e\u9045\u6ede\u3001\u4f4e\u8eab\u9577\u3001\u5c0f\u982d\u75c7\u3001\u4e0b\u982d\u75c7\u300121\u6b73\u6642\u306e\u672c\u8cea\u7684\u306b\u6b63\u5e38\u306a\u7d50\u8178\u93e1\u691c\u67fb(\u708e\u75c7\u6027\u507d\u30dd\u30ea\u30fc\u30d7\u306e\u307f\u540c\u5b9a)<\/td>\n<\/tr>\n<tr>\n<td>Morton\u3089 2011<\/td>\n<td>17.6 Mb (SIX3, MSH2, and MSH6)<\/td>\n<td>\u5168\u8133\u75c7\u3092\u4f34\u3046\u80ce\u5150<\/td>\n<\/tr>\n<tr>\n<td>Morton\u3089 2011<\/td>\n<td>192 kb(MSH6\u304a\u3088\u3073FBX011)<\/td>\n<td>\u767a\u9054\u9045\u5ef6\u304a\u3088\u3073\u5f62\u614b\u7570\u5e38\u306e\u7279\u5fb4<\/td>\n<\/tr>\n<tr>\n<td>Morton\u3089 2011<\/td>\n<td>537 kb(MSH6\u304a\u3088\u3073FBX011)<\/td>\n<td>\u767a\u9054\u9045\u5ef6\u304a\u3088\u3073\u5f62\u614b\u7570\u5e38\u306e\u7279\u5fb4<\/td>\n<\/tr>\n<tr>\n<td>\u73fe\u5728\u306e\u5831\u544a<\/td>\n<td>2p16.3p21(4.8Mb)<\/td>\n<td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3001\u4f4e\u8eab\u9577\u3001\u984d\u304c\u72ed\u304f\u77ed\u3044\u89aa\u6307\u3092\u4f34\u3046\u77ed\u982d\u75c7\u3001\u77ed\u6307\u75c7\u3001\u8db3\u5e95\u306e\u8272\u7d20\u6c88\u7740\u904e\u5270\u3092\u4f34\u3046\u5e83\u304f\u5c0f\u3055\u306a\u8db3<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<\/figure>\n<\/div>\n<\/section>\n\n\n\n<section class=\"note_table\">\n<p><strong>\u88682<\/strong> \u73fe\u5728\u306e\u60a3\u8005\u306b\u6f5c\u5728\u7684\u306a\u533b\u5b66\u7684\u610f\u7fa9\u3092\u6709\u3059\u308b\u7279\u5b9a\u306e\u907a\u4f1d\u5b50<\/p>\n<div class=\"table-sp-scroll\">\n<figure>\n<table>\n<colgroup>\n    <col style=\"width:10%\">\n    <col style=\"width:30%\">\n    <col style=\"width:30%\">\n    <col style=\"width:30%\">\n<\/colgroup>\n<thead>\n<tr>\n<th>\u6b20\u5931\u907a\u4f1d\u5b50<\/th>\n<th>HGNC(HUGO\u907a\u4f1d\u5b50\u547d\u540d\u59d4\u54e1\u4f1a)ID\u756a\u53f7<\/th>\n<th>\u95a2\u9023\u3059\u308b\u8868\u73fe\u578b<\/th>\n<th>\u73fe\u5728\u306e\u60a3\u8005\u3067\u767a\u73fe\u3057\u3066\u3044\u308b\u8868\u73fe\u578b<\/th>\n<\/tr>\n<\/thead>\n<tbody>\n<tr>\n<td>EPAS1<\/td>\n<td>3374<\/td>\n<td>\u8d64\u8840\u7403\u5897\u52a0\u5bb6\u65cf\u60274\u578b(\u901a\u5e38\u306f\u6d3b\u6027\u5316\u7a81\u7136\u5909\u7570\u3068\u95a2\u9023)<\/td>\n<td>\u306a\u3057<\/td>\n<\/tr>\n<tr>\n<td>CRIPT<\/td>\n<td>14312<\/td>\n<td>\u51fa\u751f\u5f8c\u767a\u80b2\u4e0d\u5168\u3001\u5c0f\u982d\u75c7\u3001\u9854\u9762\u7570\u5f62\u3001\u773c\u306e\u7570\u5e38\u3001\u767a\u9054\u9045\u6ede\u3001\u518d\u767a\u6027\u611f\u67d3\u75c7\u3001\u4e2d\u67a2\u795e\u7d4c\u7cfb\u6b20\u640d<\/td>\n<td>\u51fa\u751f\u5f8c\u767a\u80b2\u4e0d\u5168\u3001\u7570\u5f62\u9854\u8c8c\u3001\u773c\u7570\u5e38\u3001\u767a\u9054\u9045\u6ede\u3001\u4e2d\u67a2\u795e\u7d4c\u7cfb\u6b20\u640d<\/td>\n<\/tr>\n<tr>\n<td>MCFD2<\/td>\n<td>18451<\/td>\n<td>\u7b2cV\u56e0\u5b50\u304a\u3088\u3073\u7b2cVIII\u56e0\u5b50\u8907\u5408\u4f53\u6b20\u640d\u75c7<\/td>\n<td>\u306a\u3057<\/td>\n<\/tr>\n<tr>\n<td>TTC7A<\/td>\n<td>19750<\/td>\n<td>\u65e9\u671f\u767a\u75c7\u306e\u708e\u75c7\u6027\u8178\u75be\u60a3\u304a\u3088\u3073\u8178\u9589\u585e<\/td>\n<td>\u306a\u3057<\/td>\n<\/tr>\n<tr>\n<td>CALM2<\/td>\n<td>1445<\/td>\n<td>QT\u5ef6\u9577\u75c7\u5019\u7fa4<\/td>\n<td>\u306a\u3057<\/td>\n<\/tr>\n<tr>\n<td>EPCAM\u3001MSH2\u3001MSH6<\/td>\n<td>1152973257329<\/td>\n<td>\u30ea\u30f3\u30c1\u75c7\u5019\u7fa4<\/td>\n<td>\u30ea\u30f3\u30c1\u75c7\u5019\u7fa4\u7d50\u8178\u304c\u3093\u304a\u3088\u3073\u524d\u7acb\u817a\u304c\u3093<\/td>\n<\/tr>\n<tr>\n<td>LHCGR<\/td>\n<td>6585<\/td>\n<td>\u7537\u6027\u306e\u4e8c\u6b21\u6027\u7684\u767a\u9054\u969c\u5bb3<\/td>\n<td>\u5f0a\u793e\u30b5\u30fc\u30d3\u30b9\u3067\u306f\u8a55\u4fa1\u3057\u3066\u304a\u308a\u307e\u305b\u3093\u3002<\/td>\n<\/tr>\n<tr>\n<td>NRXN1<\/td>\n<td>8008<\/td>\n<td>\u30d4\u30c3\u30c8\u30fb\u30db\u30d7\u30ad\u30f3\u30b9\u69d8\u75c7\u5019\u7fa42<\/td>\n<td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3001\u7cbe\u795e\u904b\u52d5\u9762\u3067\u306e\u9045\u308c\u3001\u8a00\u8449\u306e\u5236\u9650\u3001\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u3084\u793e\u4f1a\u6027\u306e\u969c\u5bb3\u3001\u7d30\u3044\u7709\u3001\u7a81\u51fa\u3057\u305f\u9f3b\u3001\u5e83\u3044\u53e3\u3001\u592a\u3044\u8033\u3001\u7b11\u9854\u3084\u7b11\u3044\u58f0\u3001\u624b\u3092\u632f\u308b\u52d5\u4f5c\u304c\u591a\u304f\u3001\u5e78\u305b\u3067\u8208\u596e\u3057\u3084\u3059\u3044\u614b\u5ea6\u3001\u659c\u8996\u3001\u4f4e\u8eab\u9577\u3001\u5c0f\u3055\u306a\u624b\u3068\u8db3\u3001\u6241\u5e73\u8db3\u3001\u624b\u8db3\u306e\u6307\u5148\u306b\u7570\u5e38\u306a\u8089\u4ed8\u304d\u304c\u3042\u308b\u3053\u3068<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<\/figure>\n<\/div>\n<\/section>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/app\/registration\/\"><\/p>\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u78ba\u304b\u306a\u30c7\u30fc\u30bf\u306b\u57fa\u3065\u3044\u305f\u9078\u629e<br \/>\u5b89\u5fc3\u306e<span>NIPT\u691c\u67fb<\/span><\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p><\/a>\n<\/div>\n<\/div>\n","protected":false},"excerpt":{"rendered":"Erin E. Salo-Mullen,&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/2p16-3p21\/\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":1,"featured_media":523,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[71],"tags":[43,49,73],"class_list":["post-18211","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-treatise","tag-gene","tag-genetic-disease","tag-deletion-syndrome"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/18211","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\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/comments?post=18211"}],"version-history":[{"count":10,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/18211\/revisions"}],"predecessor-version":[{"id":107590,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/18211\/revisions\/107590"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/523"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=18211"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=18211"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=18211"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}