{"id":84171,"date":"2024-11-15T16:03:31","date_gmt":"2024-11-15T07:03:31","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/19p13-duplication-syndrome\/"},"modified":"2026-07-12T21:21:14","modified_gmt":"2026-07-12T12:21:14","slug":"19p13-duplication-syndrome","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/19p13-duplication-syndrome\/?lang=zh-hans","title":{"rendered":"19p13 \u91cd\u590d\u7efc\u5408\u75c7"},"content":{"rendered":"\n<div style=\"border:solid #ffe6e6 0.8rem;background-color: #fff9f9;padding:3% 5%;margin:1rem 0 3rem;\">\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_85 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">\u76ee\u6b21<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of 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class=\"ez-toc-section-end\"><\/span><\/h2>\n<p><strong>19p13\u91cd\u590d\u7efc\u5408\u5f81\u662f\u4e00\u79cd\u7f55\u89c1\u75be\u75c5\uff0c\u753119\u53f7\u67d3\u8272\u4f53\u77ed\u81c2\uff0819p13\u533a\u57df\uff09\u4e2d\u5305\u542bNFIX\u57fa\u56e0\u7684\u533a\u57df\u53d1\u751f\u300c\u91cd\u590d\u300d\uff08\u62f7\u8d1d\u6570\u589e\u52a0\uff09\u6240\u81f4\u3002<\/strong>\u540c\u4e00\u4e2aNFIX\u57fa\u56e0\u533a\u57df\u82e5\u53d1\u751f\u300c\u7f3a\u5931\u300d\uff0c\u5219\u4f1a\u5bfc\u81f4\u4ee5\u8fc7\u5ea6\u751f\u957f\u4e3a\u7279\u5f81\u7684\u9a6c\u5170\u7efc\u5408\u5f81\uff08\u65e7\u79f0\u7d22\u6258\u65af\u7efc\u5408\u5f812\u578b\uff09\u3002\u91cd\u590d\u7684\u8868\u73b0\u5219\u6070\u6070\u76f8\u53cd\uff0c\u4ee5\u751f\u957f\u8fdf\u7f13\u3001\u5c0f\u5934\u7578\u5f62\u3001\u667a\u529b\u969c\u788d\u4e3a\u7279\u5f81\uff0c\u56e0\u6b64\u4e5f\u88ab\u79f0\u4e3a\u300c\u9a6c\u5170\u7efc\u5408\u5f81\u7684\u955c\u50cf\u300d\u3002\u672c\u6587\u5c06\u4f9d\u636e\u56fd\u5185\u5916\u5b66\u672f\u62a5\u544a\uff0c\u4ecb\u7ecd\u5176\u75c5\u56e0\u3001\u75c7\u72b6\u3001\u9057\u4f20\u65b9\u5f0f\u53ca\u8bca\u65ad\u6d41\u7a0b\uff0c\u5e76\u8bf4\u660e\u8be5\u75c5\u4e0e\u5b55\u671fNIPT\u68c0\u6d4b\u4e4b\u95f4\u7684\u5173\u7cfb\u3002<\/p><\/div>\n\n\n\n<div style=\"border:solid #e6f0ff 0.6rem;background-color:#f7fbff;padding:3% 5%;margin:1rem 0 3rem;\">\n<h2 style=\"margin-top:1rem;\"><span class=\"ez-toc-section\" id=\"%E6%9C%AC%E6%96%87%E5%86%85%E5%AE%B9\"><\/span>\u672c\u6587\u5185\u5bb9<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<ul>\n<li>\u300c19p13\u91cd\u590d\u7efc\u5408\u5f81\u300d\u4e0e\u300c\u9a6c\u5170\u7efc\u5408\u5f81\u300d\u4e3a\u4f55\u5e38\u88ab\u76f8\u63d0\u5e76\u8bba<\/li>\n<li>\u91cd\u590d\u4f1a\u7ed9\u751f\u957f\u53d1\u80b2\u5e26\u6765\u54ea\u4e9b\u5177\u4f53\u5f71\u54cd\uff08\u4f4e\u8eab\u9ad8\u3001\u5c0f\u5934\u7578\u5f62\u3001\u667a\u529b\u969c\u788d\u7684\u5b9e\u9645\u6570\u636e\uff09<\/li>\n<li>\u9057\u4f20\u65b9\u5f0f\uff0c\u4ee5\u53ca\u4e3a\u4f55\u7236\u6bcd\u53cc\u65b9\u68c0\u6d4b\u5747\u4e3a\u9634\u6027\u65f6\u5b69\u5b50\u4ecd\u53ef\u80fd\u60a3\u75c5\uff08\u751f\u6b96\u7ec6\u80de\u5d4c\u5408\uff09<\/li>\n<li>\u5b55\u671fNIPT\u5bf9\u8be5\u75be\u75c5\u80fd\u68c0\u6d4b\u5230\u4ec0\u4e48\u7a0b\u5ea6\uff0c\u4ee5\u53ca\u4e0e\u786e\u8bca\u68c0\u67e5\u7684\u5173\u7cfb<\/li>\n<\/ul>\n<\/div>\n\n\n<p style=\"width:100%;max-width:300px;margin:0 auto;\"><a href=\"\/nipt\/nipt\/\" class=\"content-bnr about\"><img decoding=\"async\" src=\"\/nipt\/wp-content\/themes\/hiro_nipt\/img\/banner\/nipt04pc.png\" alt=\"\u80ce\u5150\u306e\u6027\u5225\u306f10\u9031\u76ee\u3067\u308f\u304b\u308b\"><\/a> <\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%89%8D%E8%A8%80%EF%BC%9A%E4%B8%BA%E4%BD%95%E3%80%8C%E9%87%8D%E5%A4%8D%E3%80%8D%E4%B8%8E%E3%80%8C%E7%BC%BA%E5%A4%B1%E3%80%8D%E5%B8%B8%E8%A2%AB%E4%B8%80%E5%90%8C%E6%8F%90%E5%8F%8A\"><\/span><strong>\u524d\u8a00\uff1a\u4e3a\u4f55\u300c\u91cd\u590d\u300d\u4e0e\u300c\u7f3a\u5931\u300d\u5e38\u88ab\u4e00\u540c\u63d0\u53ca<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u6709\u4e9b\u4eba\u5728\u68c0\u6d4b\u7ed3\u679c\u8bf4\u660e\u4e2d\u770b\u5230\u8fc7\u300c19p13\u91cd\u590d\u300d\u8fd9\u4e2a\u8bcd\u3002\u8fdb\u4e00\u6b65\u67e5\u9605\u540e\uff0c\u53ef\u80fd\u53c8\u4f1a\u770b\u5230\u300c\u9a6c\u5170\u7efc\u5408\u5f81\u300d\u300c\u7d22\u6258\u65af\u7efc\u5408\u5f812\u578b\u300d\u7b49\u5176\u4ed6\u75c5\u540d\uff0c\u56e0\u800c\u611f\u5230\u56f0\u60d1\u3002\u5b9e\u9645\u4e0a\uff0c\u8fd9\u4e24\u79cd\u75be\u75c5\u6d89\u53ca\u7684\u662f\u540c\u4e00\u4e2a\u57fa\u56e0\uff0c\u4f46\u53d8\u5316\u65b9\u5411\u5374\u5b8c\u5168\u76f8\u53cd\uff0c\u662f\u4e24\u79cd\u4e0d\u540c\u7684\u75be\u75c5\u3002<\/p>\n\n\n\n<p>19\u53f7\u67d3\u8272\u4f53\u77ed\u81c219p13\u533a\u57df\u4e2d\uff0c\u6709\u4e00\u4e2a\u4e0e\u795e\u7ecf\u548c\u9aa8\u9abc\u53d1\u80b2\u76f8\u5173\u7684\u57fa\u56e0\uff0c\u540d\u4e3aNFIX\u3002\u5f53\u8be5\u533a\u57df<strong>\u53d1\u751f\u91cd\u590d\uff08\u62f7\u8d1d\u6570\u589e\u52a0\uff09<\/strong>\u65f6\uff0c\u5c31\u4f1a\u5bfc\u81f4\u672c\u6587\u4e3b\u9898\u2014\u201419p13\u91cd\u590d\u7efc\u5408\u5f81\u3002\u53cd\u4e4b\uff0c\u5f53\u8be5\u533a\u57df<strong>\u53d1\u751f\u7f3a\u5931\uff08\u62f7\u8d1d\u6570\u51cf\u5c11\uff09<\/strong>\u65f6\uff0c\u5219\u4f1a\u5bfc\u81f4<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/malan-syndrome-guide\/\">\u9a6c\u5170\u7efc\u5408\u5f81<\/a>\uff08\u65e5\u8bed\uff09\u3002\u5173\u4e8e\u540c\u4e00\u533a\u57df\u7684\u76f8\u5173\u5185\u5bb9\uff0c\u4e5f\u53ef\u53c2\u9605\u6211\u4eec\u5173\u4e8e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/19p13-13\/?lang=zh-hans\">19p13.13\u5fae\u5c0f\u7f3a\u5931\u30fb\u5fae\u5c0f\u91cd\u590d\u7efc\u5408\u5f81\u7814\u7a76\u62a5\u544a\u7684\u89e3\u8bfb\u6587\u7ae0<\/a>\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1%E3%80%81%E7%97%85%E5%9B%A0%EF%BC%9ANFIX%E5%9F%BA%E5%9B%A0%E4%B8%8E19p13%E5%8C%BA%E5%9F%9F%E7%9A%84%E9%87%8D%E5%A4%8D\"><\/span><strong>1\u3001\u75c5\u56e0\uff1aNFIX\u57fa\u56e0\u4e0e19p13\u533a\u57df\u7684\u91cd\u590d<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u9996\u5148\uff0c\u8ba9\u6211\u4eec\u4ece\u57fa\u56e0\u5c42\u9762\u4e86\u89e3\u8fd9\u79cd\u75be\u75c5\u662f\u5982\u4f55\u53d1\u751f\u7684\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"19p1313%E5%8C%BA%E5%9F%9F%E4%B8%8ENFIX%E5%9F%BA%E5%9B%A0\"><\/span><strong>19p13.13\u533a\u57df\u4e0eNFIX\u57fa\u56e0<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>2010\u5e74\uff0cDolan\u9886\u5bfc\u7684\u7814\u7a76\u56e2\u961f\u9996\u6b21\u62a5\u544a\u4e8619p13.13\u533a\u57df\u62f7\u8d1d\u6570\u53d8\u5316\u4e0e\u7279\u5b9a\u75c7\u72b6\u4e4b\u95f4\u7684\u5173\u8054\u3002\u8be5\u62a5\u544a\u6bd4\u8f83\u4e864\u4f8b\u7f3a\u5931\u60a3\u8005\u4e0e1\u4f8b\u91cd\u590d\u60a3\u8005\uff0c\u5e76\u63d0\u51fa\u4e863\u4e2a\u5019\u9009\u57fa\u56e0\uff1aMAST1\u3001NFIX\u3001CALR\u3002<\/p>\n\n\n\n<p>\u968f\u540e\u57282017\u5e74\uff0cBonnet\u9886\u5bfc\u7684\u56e2\u961f\u9488\u5bf9\u91cd\u590d\u75c5\u4f8b\u8fdb\u884c\u4e86\u66f4\u8be6\u7ec6\u7684\u8ffd\u8e2a\u8c03\u67e5\uff0c\u5171\u5206\u6790\u4e8610\u540d\u60a3\u8005\uff08\u5176\u4e2d\u5305\u62ecDolan\u62a5\u544a\u4e2d\u7684\u90a31\u4f8b\uff09\u3002\u91cd\u590d\u533a\u57df\u7684\u5927\u5c0f\u5728479kb\u81f33.1Mb\u4e4b\u95f4\u4e0d\u7b49\uff0c\u6240\u6709\u60a3\u8005\u5171\u540c\u91cd\u53e0\u7684\u6700\u5c0f\u533a\u57df\u7ea6\u4e3a422kb\uff0c\u5305\u542b16\u4e2a\u57fa\u56e0\u3002<\/p>\n\n\n\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%87%8D%E5%A4%8D%E4%B8%BA%E4%BD%95%E4%BC%9A%E5%8F%91%E7%94%9F\"><\/span><strong>\u91cd\u590d\u4e3a\u4f55\u4f1a\u53d1\u751f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5728Bonnet\u7684\u62a5\u544a\u4e2d\uff0c9\u4f8b\u53ef\u8bc4\u4f30\u75c5\u4f8b\u4e2d\u67096\u4f8b\u7684\u91cd\u590d\u5c5e\u4e8e\u7236\u6bcd\u53cc\u65b9\u5747\u672a\u68c0\u51fa\u7684\u300c\u65b0\u53d1\uff08de novo\uff09\u300d\u53d8\u5316\u3002\u8fd9\u662f\u67d3\u8272\u4f53\u590d\u5236\u3001\u5206\u79bb\u8fc7\u7a0b\u4e2d\u5076\u7136\u53d1\u751f\u7684\u73b0\u8c61\uff0c<strong>\u4e0e\u5b55\u671f\u7684\u751f\u6d3b\u4e60\u60ef\u6216\u884c\u4e3a\u65e0\u5173\u3002<\/strong>\u8bf7\u4e0d\u5fc5\u56e0\u6b64\u81ea\u8d23\uff0c\u8fd9\u4e00\u70b9\u5e0c\u671b\u5927\u5bb6\u80fd\u591f\u660e\u786e\u4e86\u89e3\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2%E3%80%8119p13%E9%87%8D%E5%A4%8D%E7%BB%BC%E5%90%88%E5%BE%81%E4%B8%8E%E9%A9%AC%E5%85%B0%E7%BB%BC%E5%90%88%E5%BE%81%E7%9A%84%E5%8C%BA%E5%88%AB\"><\/span><strong>2\u300119p13\u91cd\u590d\u7efc\u5408\u5f81\u4e0e\u9a6c\u5170\u7efc\u5408\u5f81\u7684\u533a\u522b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u867d\u7136\u6d89\u53ca\u7684\u662f\u540c\u4e00\u4e2aNFIX\u57fa\u56e0\u3001\u540c\u4e00\u4e2a19p13\u533a\u57df\uff0c\u4f46\u91cd\u590d\u548c\u7f3a\u5931\u6240\u5bfc\u81f4\u7684\u4f53\u683c\u53d1\u80b2\u8d8b\u52bf\u5374\u5b8c\u5168\u76f8\u53cd\u3002\u4e0b\u8868\u5bf9\u4e24\u8005\u8fdb\u884c\u4e86\u6574\u7406\u5bf9\u6bd4\u3002<\/p>\n\n\n\n<figure class=\"wp-table-block\"><table><thead><tr><th>\u6bd4\u8f83\u9879\u76ee<\/th><th>19p13\u91cd\u590d\u7efc\u5408\u5f81<\/th><th>\u9a6c\u5170\u7efc\u5408\u5f81\uff0819p13\u7f3a\u5931\u30fbNFIX\u76f8\u5173\uff09<\/th><\/tr><\/thead><tbody><tr><td>\u57fa\u56e0\u53d8\u5316<\/td><td>\u5305\u542bNFIX\u5728\u5185\u7684\u533a\u57df\uff0816\u4e2a\u57fa\u56e0\uff09\u591a\u51fa1\u4efd\u62f7\u8d1d<\/td><td>NFIX\u57fa\u56e0\u6216\u8be5\u533a\u57df\u7f3a\u5931\u30fb\u529f\u80fd\u4e27\u5931<\/td><\/tr><tr><td>\u8eab\u9ad8\u8d8b\u52bf<\/td><td>\u751f\u957f\u8fdf\u7f13\u30fb\u4f4e\u8eab\u9ad8\uff08\u62a5\u544a\u75c5\u4f8b\u4e2d7\/10\u4f4e\u4e8e-2SD\uff09<\/td><td>\u51fa\u751f\u540e\u8fc7\u5ea6\u751f\u957f\uff08\u7ea6\u534a\u6570\u62a5\u544a\u75c5\u4f8b\u8fbe+2SD\u4ee5\u4e0a\uff09<\/td><\/tr><tr><td>\u5934\u56f4\u8d8b\u52bf<\/td><td>\u5c0f\u5934\u7578\u5f62\uff08\u62a5\u544a\u75c5\u4f8b\u4e2d7\/10\u4f4e\u4e8e-2SD\uff09<\/td><td>\u5927\u5934\u7578\u5f62\uff08\u6210\u4eba\u75c5\u4f8b\u4e2d77%\u8fbe+2SD\u4ee5\u4e0a\uff09<\/td><\/tr><tr><td>\u9aa8\u9f84<\/td><td>\u503e\u5411\u4e8e\u5ef6\u8fdf\uff086\u4f8b\u4e2d5\u4f8b\u68c0\u6d4b\u663e\u793a\u5ef6\u8fdf\uff09<\/td><td>\u65e0\u76f8\u5173\u8bb0\u8f7d\uff08\u8fc7\u5ea6\u751f\u957f\u578b\u5448\u76f8\u53cd\u8d8b\u52bf\uff09<\/td><\/tr><tr><td>\u667a\u529b\u969c\u788d<\/td><td>\u7a0b\u5ea6\u4ece\u91cd\u5ea6\u5230\u8f7b\u5ea6\u4e0d\u7b49\uff0c\u6240\u6709\u62a5\u544a\u75c5\u4f8b\u5747\u9700\u8981\u7279\u6b8a\u6559\u80b2\u652f\u6301<\/td><td>\u51e0\u4e4e\u6240\u6709\u62a5\u544a\u75c5\u4f8b\u5747\u5b58\u5728<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<p>\u7b80\u5355\u6765\u8bf4\uff0c19p13\u91cd\u590d\u7efc\u5408\u5f81\u662f\u4e00\u79cd<strong>\u300c\u53d1\u80b2\u8f83\u6162\u300d<\/strong>\u7684\u75be\u75c5\uff0c\u800c\u9a6c\u5170\u7efc\u5408\u5f81\u5219\u662f<strong>\u300c\u53d1\u80b2\u8f83\u5feb\u300d<\/strong>\u7684\u75be\u75c5\u3002\u6709\u7814\u7a76\u8005\u5c06\u91cd\u590d\u578b\u7684\u8868\u73b0\u578b\u63cf\u8ff0\u4e3a\u300c\u9a6c\u5170\u7efc\u5408\u5f81\u7684\u955c\u50cf\u300d\u3002\u8bf7\u52a1\u5fc5\u786e\u8ba4\u68c0\u6d4b\u62a5\u544a\u4e2d\u8bb0\u8f7d\u7684\u662f\u300c\u91cd\u590d\u300d\u8fd8\u662f\u300c\u7f3a\u5931\u300d\uff0c\u4e24\u8005\u610f\u4e49\u622a\u7136\u4e0d\u540c\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/malan-syndrome-guide\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u30de\u30e9\u30f3\u75c7\u5019\u7fa4\uff08Malan Syndrome\uff09 <\/div>\n          <div class=\"blog-card-excerpt\">\u30de\u30e9\u30f3\u75c7\u5019\u7fa4\u3068\u8a3a\u65ad\u3055\u308c\u305f\u65b9\u3001\u3054\u5bb6\u65cf\u3078\u3002NFIX\u907a\u4f1d\u5b50\u5909\u7570\u306b\u3088\u308b\u3053\u306e\u75c5\u6c17\u306e\u7279\u5fb4\u3001\u30bd\u30c8\u30b9\u75c7\u5019\u7fa4\u3068\u306e\u9055\u3044\u3001\u9ad8\u8eab\u9577\u3084\u5927\u982d\u75c7\u3001\u7279\u5fb4\u7684\u306a\u9854\u7acb\u3061\u3001\u5074\u5f2f\u75c7\u306a...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n    <a href=\"\/nipt\/19p13-13\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u65b0\u3057\u304419p13.13\u5fae\u5c0f\u6b20\u5931\/\u5fae\u5c0f\u91cd\u8907\u75c7\u5019\u7fa4 <\/div>\n          <div class=\"blog-card-excerpt\">\u65b0\u898f\u306e19p13.13\u5fae\u5c0f\u6b20\u5931\uff0f\u5fae\u5c0f\u91cd\u8907\u75c7\u5019\u7fa4\u30a2\u30c3\u30bb\u30a4\u306e\u63a2\u7d22\u3002...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3%E3%80%81%E4%B8%BB%E8%A6%81%E7%97%87%E7%8A%B6%EF%BC%9A%E7%94%9F%E9%95%BF%E8%BF%9F%E7%BC%93%E3%80%81%E5%B0%8F%E5%A4%B4%E7%95%B8%E5%BD%A2%E4%B8%8E%E7%A8%8B%E5%BA%A6%E4%B8%8D%E4%B8%80%E7%9A%84%E6%99%BA%E5%8A%9B%E9%9A%9C%E7%A2%8D\"><\/span><strong>3\u3001\u4e3b\u8981\u75c7\u72b6\uff1a\u751f\u957f\u8fdf\u7f13\u3001\u5c0f\u5934\u7578\u5f62\u4e0e\u7a0b\u5ea6\u4e0d\u4e00\u7684\u667a\u529b\u969c\u788d<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u6839\u636e2017\u5e74Bonnet\u5bf910\u540d\u60a3\u8005\u7684\u62a5\u544a\uff0c\u6211\u4eec\u6765\u5177\u4f53\u4e86\u89e3\u5404\u75c7\u72b6\u7684\u53d1\u751f\u9891\u7387\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%94%9F%E9%95%BF%E4%B8%8E%E5%A4%B4%E5%9B%B4%E7%89%B9%E5%BE%81\"><\/span><strong>\u751f\u957f\u4e0e\u5934\u56f4\u7279\u5f81<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5728\u62a5\u544a\u768410\u540d\u60a3\u8005\u4e2d\uff0c8\u4eba\u51fa\u73b0\u751f\u957f\u8fdf\u7f13\uff0c7\u4eba\u8eab\u9ad8\u4f4e\u4e8e\u5e73\u5747\u503c-2SD\uff0c\u5c5e\u4e8e\u4f4e\u8eab\u9ad8\u3002\u5934\u56f4\u65b9\u9762\uff0c7\u4eba\u4f4e\u4e8e-2SD\uff0c\u5c5e\u4e8e\u5c0f\u5934\u7578\u5f62\u3002\u5728\u53ef\u8bc4\u4f30\u9aa8\u9f84\u76846\u4eba\u4e2d\uff0c\u67095\u4eba\u5b58\u5728\u9aa8\u9f84\u5ef6\u8fdf\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%99%BA%E5%8A%9B%E5%8F%91%E8%82%B2%E4%B8%8E%E9%9D%A2%E9%83%A8%E7%89%B9%E5%BE%81\"><\/span><strong>\u667a\u529b\u53d1\u80b2\u4e0e\u9762\u90e8\u7279\u5f81<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u667a\u529b\u969c\u788d\u7684\u7a0b\u5ea6\u5dee\u5f02\u8f83\u5927\uff0c\u4ece\u51e0\u4e4e\u6ca1\u6709\u8bed\u8a00\u80fd\u529b\u7684\u91cd\u5ea6\u75c5\u4f8b\uff0c\u5230\u8f83\u8f7b\u5ea6\u7684\u75c5\u4f8b\u5747\u6709\u62a5\u544a\u3002\u4f46\u65e0\u8bba\u7a0b\u5ea6\u5982\u4f55\uff0c\u6240\u6709\u62a5\u544a\u75c5\u4f8b\u5747\u9700\u8981\u7279\u6b8a\u6559\u80b2\u652f\u6301\u3002\u9762\u90e8\u7279\u5f81\u65b9\u9762\uff0c\u76f8\u5bf9\u5e38\u89c1\u7684\u8868\u73b0\u5305\u62ec\uff1a\u9762\u988a\u4e30\u6ee1\uff086\/10\uff09\u3001\u6307\u9aa8\u77ed\u5c0f\u5373\u77ed\u6307\u75c7\uff085\/10\uff09\u3001\u62f1\u5f62\u7709\u6bdb\uff084\/10\uff09\u3001\u5916\u7ffb\u4e14\u8f83\u539a\u7684\u4e0b\u5507\uff084\/10\uff09\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"480\" src=\"\/nipt\/wp-content\/uploads\/2024\/12\/31116694_s.jpg\" alt=\"\u7236\u6bcd\u7684\u53cc\u624b\u8f7b\u8f7b\u6258\u7740\u5a74\u513f\u7684\u53cc\u811a\" class=\"wp-image-84971\"\/><\/figure><\/div>\n\n\n<p>\u5728\u6211\u4eec\u63a5\u8bca\u7684NIPT\u54a8\u8be2\u4e2d\uff0c\u7ecf\u5e38\u542c\u5230\u5bb6\u957f\u8868\u793a\uff0c\u68c0\u6d4b\u62a5\u544a\u4e0a\u51fa\u73b0\u964c\u751f\u7684\u75c5\u540d\u4f1a\u8ba9\u4eba\u5148\u611f\u5230\u4e0d\u5b89\u3002\u4f46\u5b9e\u9645\u4e0a\uff0c\u75c7\u72b6\u7684\u8868\u73b0\u65b9\u5f0f\u56e0\u4eba\u800c\u5f02\uff0c\u8fd9\u4efd\u6e05\u5355\u5e76\u4e0d\u4e00\u5b9a\u5b8c\u5168\u9002\u7528\u4e8e\u6bcf\u4e2a\u5b69\u5b50\u3002\u771f\u6b63\u7684\u9884\u540e\u60c5\u51b5\uff0c\u9700\u8981\u7531\u4e34\u5e8a\u9057\u4f20\u4e13\u79d1\u533b\u751f\u8fdb\u884c\u9762\u8bca\u540e\u624d\u80fd\u5224\u65ad\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4%E3%80%81%E9%81%97%E4%BC%A0%E6%96%B9%E5%BC%8F%EF%BC%9A%E5%AF%B9%E4%B8%8B%E4%B8%80%E4%B8%AA%E5%AD%A9%E5%AD%90%E7%9A%84%E5%BD%B1%E5%93%8D\"><\/span><strong>4\u3001\u9057\u4f20\u65b9\u5f0f\uff1a\u5bf9\u4e0b\u4e00\u4e2a\u5b69\u5b50\u7684\u5f71\u54cd<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>19p13\u91cd\u590d\u7efc\u5408\u5f81\u9075\u5faa\u5e38\u67d3\u8272\u4f53\u663e\u6027\u9057\u4f20\u65b9\u5f0f\u3002\u82e5\u7236\u6bcd\u4e00\u65b9\u643a\u5e26\u8be5\u91cd\u590d\uff0c\u65e0\u8bba\u6027\u522b\uff0c\u6bcf\u4e2a\u5b69\u5b50\u9057\u4f20\u5230\u7684\u6982\u7387\u7ea6\u4e3a\u4e8c\u5206\u4e4b\u4e00\u3002<\/p>\n\n\n\n<p>\u4e0d\u8fc7\uff0c\u5728Bonnet\u7684\u62a5\u544a\u4e2d\uff0c9\u4f8b\u53ef\u8bc4\u4f30\u75c5\u4f8b\u4e2d\u67096\u4f8b\u5c5e\u4e8e\u7236\u6bcd\u53cc\u65b9\u5747\u672a\u68c0\u51fa\u7684\u65b0\u53d1\u53d8\u5316\u3002\u503c\u5f97\u5173\u6ce8\u7684\u662f\uff0c\u4e00\u5bf9\u5144\u5f1f\u59d0\u59b9\u75c5\u4f8b\u4e2d\uff0c\u5c3d\u7ba1\u7236\u6bcd\u7684\u8840\u6db2\u68c0\u6d4b\u5747\u672a\u68c0\u51fa\u8be5\u91cd\u590d\uff0c\u4f46\u4e24\u4eba\u5374\u643a\u5e26\u5b8c\u5168\u76f8\u540c\u7684\u91cd\u590d\u3002\u8fd9\u79cd\u73b0\u8c61\u79f0\u4e3a<strong>\u751f\u6b96\u7ec6\u80de\u5d4c\u5408<\/strong>\uff0c\u5373\u53d8\u5316\u4ec5\u5b58\u5728\u4e8e\u7236\u6bcd\u4e00\u65b9\u7684\u90e8\u5206\u7cbe\u5b50\u6216\u5375\u5b50\u7ec6\u80de\u4e2d\uff0c\u56e0\u6b64\u5e38\u89c4\u8840\u6db2\u68c0\u6d4b\u96be\u4ee5\u53d1\u73b0\u3002<\/p>\n\n\n\n<p>\u4e5f\u5c31\u662f\u8bf4\uff0c\u5373\u4f7f\u7236\u6bcd\u7684\u68c0\u6d4b\u7ed3\u679c\u5747\u4e3a\u6b63\u5e38\uff0c\u4e5f\u65e0\u6cd5\u5b8c\u5168\u6392\u9664\u4e0b\u4e00\u4e2a\u5b69\u5b50\u53d1\u751f\u7c7b\u4f3c\u53d8\u5316\u7684\u53ef\u80fd\u6027\u3002\u82e5\u5e0c\u671b\u9488\u5bf9\u4e2a\u4eba\u60c5\u51b5\u4e86\u89e3\u4e0b\u4e00\u80ce\u7684\u5177\u4f53\u98ce\u9669\uff0c\u8bf7\u54a8\u8be2<a href=\"https:\/\/www.jshg.jp\/about\/license\/\" target=\"_blank\" rel=\"noopener\">\u8ba4\u5b9a\u9057\u4f20\u54a8\u8be2\u5e08<\/a>\u6216\u4e34\u5e8a\u9057\u4f20\u4e13\u79d1\u533b\u751f\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"5%E3%80%81%E8%AF%8A%E6%96%AD%E6%96%B9%E6%B3%95\"><\/span><strong>5\u3001\u8bca\u65ad\u65b9\u6cd5<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>19p13\u91cd\u590d\u7efc\u5408\u5f81\u591a\u662f\u56e0\u53d1\u80b2\u8fdf\u7f13\u6216\u7279\u5f81\u6027\u9762\u90e8\u8868\u73b0\u800c\u63a5\u53d7\u67d3\u8272\u4f53\u5c42\u9762\u68c0\u6d4b\u540e\u88ab\u53d1\u73b0\u7684\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%9F%93%E8%89%B2%E4%BD%93%E5%BE%AE%E9%98%B5%E5%88%97%E6%A3%80%E6%B5%8B%EF%BC%88CMA%EF%BC%89\"><\/span><strong>\u67d3\u8272\u4f53\u5fae\u9635\u5217\u68c0\u6d4b\uff08CMA\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5728Bonnet\u7684\u62a5\u544a\u4e2d\uff0c\u91cd\u590d\u662f\u901a\u8fc7\u5206\u8fa8\u7387\u4e3a44k\u81f3180k\u7684\u9635\u5217CGH\u6cd5\u6216SNP\u9635\u5217\u6cd5\u68c0\u6d4b\u51fa\u6765\u7684\u3002\u7531\u4e8e\u8fd9\u79cd\u5fae\u5c0f\u53d8\u5316\u65e0\u6cd5\u901a\u8fc7\u4f20\u7edf\u7684\u663e\u5fae\u955c\u67d3\u8272\u4f53\u68c0\u67e5\uff08G\u663e\u5e26\u6cd5\uff09\u53d1\u73b0\uff0c\u56e0\u6b64\u9700\u8981\u501f\u52a9\u67d3\u8272\u4f53\u5fae\u9635\u5217\u68c0\u6d4b\uff08CMA\uff09\u7b49\u9ad8\u5206\u8fa8\u7387\u68c0\u6d4b\u624b\u6bb5\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"FISH%E6%B3%95%E3%83%BB%E5%AE%9A%E9%87%8FPCR%E6%B3%95%E7%A1%AE%E8%AE%A4\"><\/span><strong>FISH\u6cd5\u30fb\u5b9a\u91cfPCR\u6cd5\u786e\u8ba4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u9635\u5217\u68c0\u6d4b\u53d1\u73b0\u91cd\u590d\u540e\uff0c\u901a\u5e38\u4f1a\u4f7f\u7528FISH\u6cd5\uff08\u8367\u5149\u539f\u4f4d\u6742\u4ea4\uff09\u6216\u5b9a\u91cfPCR\u6cd5\uff0c\u786e\u8ba4\u7236\u6bcd\u662f\u5426\u643a\u5e26\u76f8\u540c\u7684\u53d8\u5316\u3002\u8be5\u7ed3\u679c\u5c06\u4f5c\u4e3a\u5224\u65ad\u9057\u4f20\u65b9\u5f0f\u3001\u8bc4\u4f30\u4e0b\u4e00\u80ce\u98ce\u9669\u7684\u91cd\u8981\u4f9d\u636e\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"6%E3%80%81%E6%B2%BB%E7%96%97%E4%B8%8E%E6%97%A5%E5%B8%B8%E7%94%9F%E6%B4%BB%E6%94%AF%E6%8C%81\"><\/span><strong>6\u3001\u6cbb\u7597\u4e0e\u65e5\u5e38\u751f\u6d3b\u652f\u6301<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u76ee\u524d\u5c1a\u65e0\u80fd\u591f\u6d88\u9664\u91cd\u590d\u672c\u8eab\u7684\u6839\u672c\u6027\u6cbb\u7597\u65b9\u6cd5\u3002\u56e0\u6b64\uff0c\u6cbb\u7597\u4ee5\u652f\u6301\u53d1\u80b2\u7684\u5eb7\u590d\u8bad\u7ec3\u548c\u6210\u957f\u8fc7\u7a0b\u7684\u5b9a\u671f\u968f\u8bbf\u4e3a\u6838\u5fc3\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%8F%91%E8%82%B2%E6%94%AF%E6%8C%81%E4%B8%8E%E7%89%B9%E6%AE%8A%E6%95%99%E8%82%B2\"><\/span><strong>\u53d1\u80b2\u652f\u6301\u4e0e\u7279\u6b8a\u6559\u80b2<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u901a\u8fc7\u7269\u7406\u6cbb\u7597\u3001\u804c\u4e1a\u6cbb\u7597\u3001\u8bed\u8a00\u6cbb\u7597\u76f8\u7ed3\u5408\uff0c\u4fc3\u8fdb\u8fd0\u52a8\u548c\u8bed\u8a00\u80fd\u529b\u7684\u53d1\u5c55\u3002\u7531\u4e8e\u6240\u6709\u62a5\u544a\u75c5\u4f8b\u5747\u9700\u8981\u7279\u6b8a\u6559\u80b2\u652f\u6301\uff0c\u5efa\u8bae\u5728\u5165\u5b66\u524d\u5c3d\u65e9\u4e0e\u5b66\u6821\u6c9f\u901a\uff0c\u4e3a\u5b69\u5b50\u5b89\u6392\u5408\u9002\u7684\u5b66\u4e60\u73af\u5883\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%94%9F%E9%95%BF%E4%B8%8E%E9%AA%A8%E9%BE%84%E7%9A%84%E9%9A%8F%E8%AE%BF%E8%A7%82%E5%AF%9F\"><\/span><strong>\u751f\u957f\u4e0e\u9aa8\u9f84\u7684\u968f\u8bbf\u89c2\u5bdf<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u8bf7\u7531\u513f\u79d1\u6216\u5185\u5206\u6ccc\u4e13\u79d1\u533b\u751f\u5b9a\u671f\u8bc4\u4f30\u4f4e\u8eab\u9ad8\u4e0e\u5c0f\u5934\u7578\u5f62\u7684\u53d8\u5316\u60c5\u51b5\u3002<\/li>\n\n\n\n<li>\u82e5\u5b58\u5728\u9aa8\u9f84\u5ef6\u8fdf\uff0c\u53ef\u901a\u8fc7X\u7ebf\u68c0\u67e5\u6301\u7eed\u8ffd\u8e2a\u751f\u957f\u8282\u594f\u3002<\/li>\n\n\n\n<li>\u82e5\u5bf9\u884c\u4e3a\u65b9\u9762\u7684\u7279\u5f81\u6709\u6240\u62c5\u5fc3\uff0c\u53ef\u63a5\u53d7\u5fc3\u7406\u4e13\u4e1a\u4eba\u58eb\u7684\u8bc4\u4f30\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"7%E3%80%81%E9%A2%84%E5%90%8E%EF%BC%9A%E9%95%BF%E6%9C%9F%E5%B1%95%E6%9C%9B\"><\/span><strong>7\u3001\u9884\u540e\uff1a\u957f\u671f\u5c55\u671b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>19p13\u91cd\u590d\u7efc\u5408\u5f81\u5e76\u975e\u8fdb\u884c\u6027\u75be\u75c5\u3002\u901a\u8fc7\u6301\u7eed\u5f00\u5c55\u4e0e\u667a\u529b\u969c\u788d\u7a0b\u5ea6\u76f8\u7b26\u7684\u5eb7\u590d\u8bad\u7ec3\u4e0e\u6559\u80b2\u652f\u6301\uff0c\u591a\u6570\u60a3\u8005\u80fd\u591f\u7ef4\u6301\u7a33\u5b9a\u7684\u65e5\u5e38\u751f\u6d3b\u3002<\/p>\n\n\n\n<p>\u53e6\u4e00\u65b9\u9762\uff0c\u7531\u4e8e\u76ee\u524d\u62a5\u544a\u7684\u75c5\u4f8b\u6570\u91cf\u4ecd\u7136\u8f83\u5c11\uff0c\u6210\u5e74\u671f\u5177\u4f53\u4f1a\u5448\u73b0\u600e\u6837\u7684\u75c5\u7a0b\uff0c\u4ecd\u6709\u5f85\u4eca\u540e\u8ffd\u8e2a\u7814\u7a76\u7684\u79ef\u7d2f\u3002\u5b9a\u671f\u5c31\u8bca\u3001\u6839\u636e\u5f53\u4e0b\u72b6\u6001\u6301\u7eed\u8c03\u6574\u652f\u6301\u65b9\u5f0f\uff0c\u662f\u7ef4\u6301\u751f\u6d3b\u8d28\u91cf\u7684\u91cd\u8981\u57fa\u7840\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"8%E3%80%81%E4%B8%8E%E5%AD%95%E6%9C%9FNIPT%E6%A3%80%E6%B5%8B%E7%9A%84%E5%85%B3%E7%B3%BB\"><\/span><strong>8\u3001\u4e0e\u5b55\u671fNIPT\u68c0\u6d4b\u7684\u5173\u7cfb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>NIPT\u57fa\u7840\u68c0\u6d4b\u9879\u76ee\uff0821\u300118\u300113\u4e09\u4f53\uff09\u5e76\u4e0d\u5305\u542b19p13\u8fd9\u7c7b\u67d3\u8272\u4f53\u5fae\u5c0f\u91cd\u590d\u30fb\u7f3a\u5931\u3002<\/strong>\u90e8\u5206\u68c0\u6d4b\u65b9\u6848\u63d0\u4f9b\u53ef\u9009\u7684\u6269\u5c55\u9879\u76ee\uff0c\u6db5\u76d6\u5fae\u5c0f\u7f3a\u5931\u30fb\u5fae\u5c0f\u91cd\u590d\uff0c\u4f46\u5177\u4f53\u8986\u76d6\u7684\u75be\u75c5\u8303\u56f4\u56e0\u68c0\u6d4b\u673a\u6784\u548c\u65b9\u6848\u800c\u5f02\u3002<\/p>\n\n\n\n<p>\u60a8\u6240\u8003\u8651\u7684\u68c0\u6d4b\u65b9\u6848\u662f\u5426\u8986\u76d619p13\u533a\u57df\uff0c<strong>\u8bf7\u76f4\u63a5\u5411\u8fdb\u884c\u68c0\u6d4b\u7684\u673a\u6784\u786e\u8ba4\u3002<\/strong>\u6b64\u5916\uff0c\u4e5f\u53ef\u53c2\u8003\u6211\u4eec\u5173\u4e8e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-202407001\/\">NIPT\u5982\u4f55\u68c0\u6d4b\u5fae\u5c0f\u7f3a\u5931\u7efc\u5408\u5f81<\/a>\uff08\u65e5\u8bed\uff09\u4ee5\u53ca<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/microdeletion-syndrome\/?lang=zh-hans\">\u5fae\u5c0f\u7f3a\u5931\u30fb\u91cd\u590d\u75be\u75c5\u4e00\u89c8<\/a>\uff08\u65e5\u8bed\uff09\u7684\u76f8\u5173\u6587\u7ae0\u3002<\/p>\n\n\n\n<p>\u8fd8\u6709\u4e00\u70b9\u5e0c\u671b\u5927\u5bb6\u4e86\u89e3\uff1a<strong>NIPT\u7ec8\u7a76\u53ea\u662f\u4e00\u9879\u975e\u786e\u5b9a\u6027\u7684\u7b5b\u67e5\u68c0\u6d4b\u3002<\/strong>\u82e5\u51fa\u73b0\u9633\u6027\u7ed3\u679c\uff0c\u9700\u901a\u8fc7\u7f8a\u6c34\u7a7f\u523a\u7b49\u65b9\u5f0f\u8fdb\u884c\u786e\u8bca\u3002\u786e\u8bca\u65f6\u4f1a\u4f7f\u7528\u6240\u53d6\u5f97\u7684\u6837\u672c\uff0c\u901a\u8fc7\u67d3\u8272\u4f53\u5fae\u9635\u5217\u68c0\u6d4b\uff08CMA\uff09\u6765\u6838\u5b9e\u5305\u542bNFIX\u57fa\u56e0\u5728\u5185\u533a\u57df\u7684\u62f7\u8d1d\u6570\u3002\u6b64\u5916\uff0c\u4ec5\u9760\u4f20\u7edf\u7684\u663e\u5fae\u955c\u67d3\u8272\u4f53\u68c0\u67e5\u662f\u65e0\u6cd5\u53d1\u73b0\u8fd9\u79cd\u5fae\u5c0f\u53d8\u5316\u7684\uff0c\u8fd9\u4e00\u70b9\u4e5f\u8bf7\u7559\u610f\u3002<\/p>\n\n\n\n<p>\u5728\u64b0\u5199\u672c\u6587\u65f6\uff0c\u6211\u4eec\u66fe\u5728X\uff08\u539fTwitter\uff09\u4e0a\u641c\u7d22\u6709\u5173\u672c\u75c5\u7684\u56fd\u5185\u771f\u5b9e\u7ecf\u5386\u5206\u4eab\uff0c\u4f46\u672a\u80fd\u627e\u5230\u8fd1\u671f\u7684\u76f8\u5173\u5e16\u5b50\u3002\u4f5c\u4e3a\u60a3\u8005\u7fa4\u4f53\u6781\u5c0f\u7684\u7f55\u89c1\u75be\u75c5\uff0c\u8fd9\u79cd\u60c5\u51b5\u5e76\u4e0d\u7f55\u89c1\u3002\u56e0\u6b64\uff0c\u672c\u6587\u6539\u4e3a\u53c2\u8003Dolan\u7b49\u4eba\uff082010\u5e74\uff09\u53caBonnet\u7b49\u4eba\uff082017\u5e74\uff09\u7684\u5b66\u672f\u8bba\u6587\uff0c\u4ee5\u53ca\u56fd\u5185\u5916\u5173\u4e8eNFIX\u76f8\u5173\u75be\u75c5\u7684\u516c\u5f00\u4fe1\u606f\u4f5c\u4e3a\u4f9d\u636e\u3002<\/p>\n\n\n\n<p>\u5982\u679c\u4e0d\u786e\u5b9a\u9002\u5408\u81ea\u5df1\u7684\u68c0\u6d4b\u65b9\u6848\uff0c\u6b22\u8fce\u4f7f\u7528<strong><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/plan-finder\/?lang=en\">\u65b9\u6848\u8bca\u65ad\u5de5\u5177<\/a><\/strong>\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\/plan-finder\/?lang=en\" target=\"_blank\" rel=\"noopener\">\u901a\u8fc7\u65b9\u6848\u8bca\u65ad\u5de5\u5177\u5bfb\u627e\u9002\u5408\u81ea\u5df1\u7684\u68c0\u6d4b<\/a><\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"9%E3%80%81%E7%BB%99%E5%AE%B6%E4%BA%BA%E7%9A%84%E8%AF%9D\"><\/span><strong>9\u3001\u7ed9\u5bb6\u4eba\u7684\u8bdd<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u300c\u91cd\u590d\u300d\u8fd9\u4e2a\u8bcd\u672c\u8eab\uff0c\u53ef\u80fd\u4f1a\u8ba9\u4eba\u4ea7\u751f\u4e00\u79cd\u6a21\u7cca\u7684\u4e0d\u5b89\u3002\u4f4619p13\u91cd\u590d\u7efc\u5408\u5f81\u4e0e\u9a6c\u5170\u7efc\u5408\u5f81\u8fd9\u7c7b\u8fc7\u5ea6\u751f\u957f\u578b\u75be\u75c5\u7684\u75c5\u7a0b\u5e76\u4e0d\u76f8\u540c\uff0c\u662f\u4e00\u79cd\u4e3b\u8981\u4f9d\u9760\u5eb7\u590d\u8bad\u7ec3\u548c\u6559\u80b2\u652f\u6301\u957f\u671f\u76f8\u4f34\u7684\u75be\u75c5\u3002<\/p>\n\n\n\n<p>\u957f\u671f\u7684\u5eb7\u590d\u8bad\u7ec3\u4e0e\u5b9a\u671f\u5c31\u8bca\uff0c\u6709\u65f6\u4f1a\u7ed9\u5bb6\u5ead\u5e26\u6765\u8f83\u5927\u7684\u8d1f\u62c5\u3002\u8bf7\u4e0e\u533b\u7597\u56e2\u961f\u53ca\u76f8\u5173\u652f\u6301\u673a\u6784\u4fdd\u6301\u6c9f\u901a\u534f\u4f5c\uff0c\u5728\u529b\u6240\u80fd\u53ca\u7684\u8303\u56f4\u5185\u6301\u7eed\u966a\u4f34\u5b69\u5b50\u6210\u957f\u3002<\/p>\n\n\n\n<p>\u5728\u9057\u4f20\u54a8\u8be2\u73b0\u573a\uff0c\u6211\u4eec\u7ecf\u5e38\u542c\u5230\u300c\u7236\u6bcd\u53cc\u65b9\u68c0\u6d4b\u90fd\u6b63\u5e38\uff0c\u5b69\u5b50\u662f\u5426\u8fd8\u662f\u6709\u53ef\u80fd\u60a3\u75c5\u300d\u8fd9\u6837\u7684\u7591\u95ee\u3002\u6b63\u5982\u751f\u6b96\u7ec6\u80de\u5d4c\u5408\u6240\u663e\u793a\u7684\u90a3\u6837\uff0c\u786e\u5b9e\u5b58\u5728\u8840\u6db2\u68c0\u6d4b\u65e0\u6cd5\u5b8c\u5168\u6392\u9664\u7684\u60c5\u51b5\u3002\u8bf7\u4e0d\u8981\u72ec\u81ea\u627f\u53d7\u8fd9\u4efd\u4e0d\u5b89\uff0c\u6b22\u8fce\u968f\u65f6\u5411\u4e13\u4e1a\u4eba\u58eb\u54a8\u8be2\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/15q13-3-deletion-syndrome-bp4-to-bp5-gain\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">15q13.3\u6b20\u5931\u75c7\u5019\u7fa4\uff08BP4-BP5\uff09\uff5c\u539f\u56e0\u306eCHRNA7\u907a\u4f1d\u5b50\u3068\u3066\u3093\u304b\u3093\u30fb\u77e5\u7684\u969c\u5bb3\u306e\u95a2\u4fc2 <\/div>\n          <div class=\"blog-card-excerpt\">15q13.3\u91cd\u8907\u75c7\u5019\u7fa4\u306f\u3001\u767a\u9054\u9045\u5ef6\u3001\u884c\u52d5\u7570\u5e38\u3001\u77e5\u7684\u969c\u5bb3\u306a\u3069\u3092\u5f15\u304d\u8d77\u3053\u3059\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002\u65e9\u671f\u306e\u7642\u80b2\u3068\u652f\u63f4\u306b\u3088\u308a\u3001\u75c7\u72b6\u306e\u8efd\u6e1b\u3084\u751f\u6d3b\u306e\u8cea\u5411\u4e0a\u304c\u671f...<\/div>\n      <\/div>\n    <\/a>\n\n\n\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\">\u9884\u7ea6NIPT\u68c0\u6d4b<\/a><\/div>\n\n\n\n<div class=\"wp-block-button is-style-outline is-style-outline--1\"><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\">\u901a\u8fc7LINE\u514d\u8d39\u54a8\u8be2<\/a><\/div>\n<\/div>\n\n\n\n<p>\u4e5f\u6b22\u8fce\u81f4\u7535\u54a8\u8be2\uff08\u65e5\u8bed\u70ed\u7ebf\uff09\uff1a<a href=\"tel:0120169629\">0120-169-629<\/a>\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%B8%B8%E8%A7%81%E9%97%AE%E9%A2%98\"><\/span><strong>\u5e38\u89c1\u95ee\u9898<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"19p13%E9%87%8D%E5%A4%8D%E7%BB%BC%E5%90%88%E5%BE%81%E4%B8%8E%E9%A9%AC%E5%85%B0%E7%BB%BC%E5%90%88%E5%BE%81%E6%98%AF%E5%90%8C%E4%B8%80%E7%A7%8D%E7%96%BE%E7%97%85%E5%90%97%EF%BC%9F\"><\/span>19p13\u91cd\u590d\u7efc\u5408\u5f81\u4e0e\u9a6c\u5170\u7efc\u5408\u5f81\u662f\u540c\u4e00\u79cd\u75be\u75c5\u5417\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u4e0d\u662f\u3002\u4e24\u8005\u6d89\u53ca\u540c\u4e00\u4e2aNFIX\u57fa\u56e0\u548c\u540c\u4e00\u4e2a19p13\u533a\u57df\uff0c\u4f46\u5c5e\u4e8e\u4e0d\u540c\u7684\u75be\u75c5\u3002\u8be5\u533a\u57df\u53d1\u751f\u91cd\u590d\u6240\u81f4\u7684\u662f\u672c\u6587\u6240\u8ff0\u768419p13\u91cd\u590d\u7efc\u5408\u5f81\uff0c\u53d1\u751f\u7f3a\u5931\u6240\u81f4\u7684\u5219\u662f\u9a6c\u5170\u7efc\u5408\u5f81\uff08\u65e7\u79f0\u7d22\u6258\u65af\u7efc\u5408\u5f812\u578b\uff09\uff0c\u4e24\u8005\u7684\u4f53\u683c\u53d1\u80b2\u8d8b\u52bf\u6b63\u597d\u76f8\u53cd\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span 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rel=\"noopener\">Bonnet\u7b49\uff082017\u5e74\uff09\uff0c\u6d89\u53caNFIX\u768419p13\u91cd\u590d\u75c5\u4f8b\u4e34\u5e8a\u7279\u5f81\u62a5\u544a\uff5cPMC\uff08\u7f8e\u56fd\u56fd\u7acb\u533b\u5b66\u56fe\u4e66\u9986\uff09<\/a>\uff0f<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK605494\/\" target=\"_blank\" rel=\"noopener\">NFIX\u76f8\u5173\u9a6c\u5170\u7efc\u5408\u5f81\uff5cGeneReviews\uff08NCBI Bookshelf\uff09<\/a>\uff0f<a href=\"https:\/\/genie-peer.jp\/disease\/nfix-2\/\" target=\"_blank\" rel=\"noopener\">\u9a6c\u5170\u7efc\u5408\u5f81\uff08NFIX\u76f8\u5173\u75be\u75c5\uff09\uff5cGENIE \u7f55\u89c1\u30fb\u672a\u786e\u8bca\u75be\u75c5\u652f\u63f4\u7cfb\u7edf\uff08\u4e1c\u4eac\u90fd\u7acb\u513f\u7ae5\u7efc\u5408\u533b\u7597\u4e2d\u5fc3\uff09<\/a>\uff0f<a href=\"https:\/\/www.jshg.jp\/about\/license\/\" target=\"_blank\" rel=\"noopener\">\u8d44\u683c\u8ba4\u5b9a\uff08\u4e34\u5e8a\u9057\u4f20\u4e13\u79d1\u533b\u751f\u30fb\u8ba4\u5b9a\u9057\u4f20\u54a8\u8be2\u5e08\uff09\uff5c\u65e5\u672c\u4eba\u7c7b\u9057\u4f20\u5b66\u4f1a<\/a><\/p>\n\n","protected":false},"excerpt":{"rendered":"\u672c\u6587\u6458\u8981 19p13\u91cd\u590d\u7efc\u5408\u5f81\u662f\u4e00\u79cd\u7f55\u89c1&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/19p13-duplication-syndrome\/?lang=zh-hans\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":101,"featured_media":84577,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[14],"tags":[],"class_list":["post-84171","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\/84171","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=84171"}],"version-history":[{"count":3,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/84171\/revisions"}],"predecessor-version":[{"id":133726,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/84171\/revisions\/133726"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/84577"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=84171"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=84171"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=84171"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}