{"id":23809,"date":"2022-02-04T21:00:00","date_gmt":"2022-02-04T12:00:00","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/digeorge-syndrome\/"},"modified":"2024-11-28T16:29:06","modified_gmt":"2024-11-28T07:29:06","slug":"digeorge-syndrome","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/digeorge-syndrome\/?lang=zh-hans","title":{"rendered":"\u4ec0\u4e48\u662f\u8fea\u4e54\u6cbb\u7efc\u5408\u75c7 \u3010\u533b\u751f\u76d1\u7763\u3011"},"content":{"rendered":"\n<div class=\"toc\">\n  <ul>\n    <li><a href=\"#c1\">\u4ec0\u4e48\u662f\u8fea\u4e54\u6cbb\u7efc\u5408\u75c7<\/a><\/li>\n    <li><a href=\"#c2\">\u4ec0\u4e48\u65f6\u5019\u80fd\u77e5\u9053\u662f\u8fea\u4e54\u6cbb\u7efc\u5408\u75c7<\/a><\/li>\n    <li><a href=\"#c3\">\u8fea\u4e54\u6cbb\u7efc\u5408\u75c7\u7684\u75c5\u56e0<\/a><\/li>\n    <li><a href=\"#c4\">\u8fea\u4e54\u6cbb\u7efc\u5408\u75c7\u7684\u75c7\u72b6\u548c\u7279\u70b9<\/a>\n      <ul>\n        <li><a href=\"#c4-1\">\u5148\u5929\u6027\u5fc3\u810f\u75c5<\/a><\/li>\n        <li><a href=\"#c4-2\">\u7279\u6b8a\u9762\u90e8\u7279\u5f81<\/a><\/li>\n        <li><a href=\"#c4-3\">\u80f8\u817a\u53d1\u80b2\u4e0d\u5168<\/a><\/li>\n        <li><a href=\"#c4-4\">\u7532\u72b6\u65c1\u817a\u529f\u80fd\u4f4e\u4e0b<\/a><\/li>\n        <li><a href=\"#c4-5\">\u667a\u80fd\u7279\u5f81<\/a><\/li>\n      <\/ul>\n    <\/li>\n    <li><a href=\"#c5\">\u8fea\u4e54\u6cbb\u7efc\u5408\u75c7\u7684\u68c0\u67e5\u4e0e\u8bca\u65ad<\/a><\/li>\n    <li><a href=\"#c6\">\u8fea\u4e54\u6cbb\u7efc\u5408\u75c7\u7684\u6cbb\u7597<\/a><\/li>\n    <li><a href=\"#c7\">\u8fea\u4e54\u6cbb\u7efc\u5408\u75c7\u7684\u9884\u540e\u548c\u5bff\u547d<\/a><\/li>\n    <li><a href=\"#c8\">\u603b\u7ed3<\/a><\/li>\n  <\/ul>\n<button class=\"toc_more\">\u6253\u5f00\u76ee\u5f55<\/button>\n<\/div>\n\n\n<p style=\"width:100%;max-width:300px;margin:0 auto;\"><a href=\"\/nipt\/\" class=\"content-bnr about\"><img decoding=\"async\" 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/digeorge-syndrome\/?lang=zh-hans\/#%E8%BF%AA%E4%B9%94%E6%B2%BB%E7%BB%BC%E5%90%88%E7%97%87%E7%9A%84%E6%B2%BB%E7%96%97\" >\u8fea\u4e54\u6cbb\u7efc\u5408\u75c7\u7684\u6cbb\u7597<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-12\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/digeorge-syndrome\/?lang=zh-hans\/#%E8%BF%AA%E4%B9%94%E6%B2%BB%E7%BB%BC%E5%90%88%E7%97%87%E7%9A%84%E9%A2%84%E5%90%8E%E5%92%8C%E5%AF%BF%E5%91%BD\" >\u8fea\u4e54\u6cbb\u7efc\u5408\u75c7\u7684\u9884\u540e\u548c\u5bff\u547d<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-13\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/digeorge-syndrome\/?lang=zh-hans\/#%E6%80%BB%E7%BB%93\" >\u603b\u7ed3<\/a><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\" id=\"c1\"><span class=\"ez-toc-section\" id=\"%E4%BB%80%E4%B9%88%E6%98%AF%E8%BF%AA%E4%B9%94%E6%B2%BB%E7%BB%BC%E5%90%88%E7%97%87\"><\/span><strong><strong>\u4ec0\u4e48\u662f\u8fea\u4e54\u6cbb\u7efc\u5408\u75c7<\/strong><\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u8fea\u4e54\u6cbb\u7efc\u5408\u75c7(DiGeorge\u7efc\u5408\u75c7)\u662f\u4eba\u7c7b23\u6761\u67d3\u8272\u4f53\u4e2d\u7b2c22\u53f7\u67d3\u8272\u5e95\u7684\u4e00\u90e8\u4efd\u957f\u81c2(22q11.2\u533a\u57df)\u7684\u4e00\u90e8\u5206<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u53d1\u751f\u5c0f\u7f3a\u5931(\u4e3a\u7f3a\u5931)\u800c\u5f15\u8d77\u7684\u75be\u75c5<\/a>\u3002<\/p>\n\n\n\n<p>\u56e0\u800c\u5f15\u8d77\u7532\u72b6\u65c1\u817a\u548c\u80f8\u817a\u53d1\u80b2\u4e0d\u5168\u3001\u5fc3\u810f\u548c\u8840\u7ba1\u7684\u53d1\u80b2\u5f02\u5e38\u7b49\u5404\u79cd\u75c7\u72b6\u3002\u4e3b\u8981\u75c7\u72b6\u5305\u62ec\u7532\u72b6\u817a\u65c1\u817a\u529f\u80fd\u4f4e\u4e0b\u75c7\u3001\u514d\u75ab\u7f3a\u9677\u548c\u5148\u5929\u6027\u5fc3\u810f\u75c5\u7b49\uff0c\u5c24\u5176\u662f\u50cf\u6cd5\u4e50\u6c0f\u56db\u8054\u75c7\u7b49\u4e0e\u751f\u547d\u9884\u540e\u6709\u5173\u7684\u5148\u5929\u6027\u5fc3\u810f\u75c5\uff0c\u56e0\u6b64\u5728\u65b0\u751f\u513f~\u5a74\u513f\u671f\u9700\u8981\u8fdb\u884c\u5fc3\u810f\u624b\u672f\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"c2\"><span class=\"ez-toc-section\" id=\"%E4%BB%80%E4%B9%88%E6%97%B6%E5%80%99%E8%83%BD%E7%9F%A5%E9%81%93%E6%98%AF%E8%BF%AA%E4%B9%94%E6%B2%BB%E7%BB%BC%E5%90%88%E7%97%87\"><\/span><strong><strong>\u4ec0\u4e48\u65f6\u5019\u80fd\u77e5\u9053\u662f\u8fea\u4e54\u6cbb\u7efc\u5408\u75c7<\/strong><\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u4ece\u51fa\u751f\u540e\u7684\u4e34\u5e8a\u75c7\u72b6\u6765\u770b\uff0c\u82e5\u7591\u4f3c\u7f79\u60a3\u8fea\u4e54\u6cbb\u7efc\u5408\u75c7\uff0c\u53ef\u901a\u8fc7\u8840\u6db2\u548c\u8d85\u58f0\u5fc3\u52a8\u56fe\u7b49\u68c0\u67e5\u5bf9\u514d\u75ab\u529f\u80fd\u548c\u5148\u5929\u6027\u5fc3\u810f\u75c5\u505a\u66f4\u8be6\u7ec6\u7684\u8c03\u67e5\u3002\u901a\u8fc7\u67d3\u8272\u4f53\u68c0\u67e5\u68c0\u6d4b\u51fa\u5fae\u7f3a\u5931\u6765\u786e\u5b9a\u8bca\u65ad\u3002<\/p>\n\n\n\n<p>\u8fd1\u671f\u968f\u7740\u57fa\u56e0\u68c0\u6d4b\u6280\u672f\u7684\u8fdb\u6b65\uff0c\u901a\u8fc7\u4ea7\u524d\u53ef\u8fdb\u884c\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/\" data-type=\"URL\" data-id=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/\">NIPT(\u65b0\u578b\u4ea7\u524d\u8bca\u65ad)<\/a>\u4e5f\u53ef\u4ee5\u68c0\u6d4b\u5230\u5fae\u5c0f\u7684\u67d3\u8272\u4f53\u5f02\u5e38\u3002\u672c\u9662\u4e5f\u63d0\u4f9b\u65e0\u8bba\u5982\u4f55\u90fd\u60f3\u900f\u8fc7<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/\" data-type=\"URL\" data-id=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/\">NIPT(\u65b0\u578b\u4ea7\u524d\u8bca\u65ad)<\/a>\u77e5\u6653\u7f79\u60a3\u8fea\u4e54\u6cbb\u7efc\u5408\u75c7\u53ef\u80fd\u6027\u7684\u4eba\u8c18\u8be2\uff0c\u8bf7\u968f\u65f6\u5411\u6211\u4eec\u63d0\u51fa\u8c18\u8be2\u7533\u8bf7\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/nipt\/nipt\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u77e5\u7684\u969c\u304c\u3044\u304c\u308f\u304b\u308bNIPT\u3068\u306f\uff08NIPT\u306e\u57fa\u672c\uff09 <\/div>\n          <div class=\"blog-card-excerpt\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u3067\u884c\u3063\u3066\u3044\u308bNIPT\u306e\u307e\u3068\u3081\u3067\u3059\u3002\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u306eNIPT\u3067\u306f\u77e5\u7684\u969c\u5bb3\u30fb\u767a\u9054\u969c\u5bb3\u3092\u4f34\u3046\u591a\u6570\u306e\u75be\u60a3\u3092\u51fa\u751f\u524d\u306b\u691c\u51fa\u3059\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"c3\"><span class=\"ez-toc-section\" id=\"%E8%BF%AA%E4%B9%94%E6%B2%BB%E7%BB%BC%E5%90%88%E7%97%87%E7%9A%84%E7%97%85%E5%9B%A0\"><\/span><strong><strong>\u8fea\u4e54\u6cbb\u7efc\u5408\u75c7\u7684\u75c5\u56e0<\/strong><\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u8fea\u4e54\u6cbb\u7efc\u5408\u75c7\u53d1\u751f\u7684\u539f\u56e0\u4e3a\u67d3\u8272\u4f53\u5f02\u5e38\u3002\u4eba\u7c7b\u7684\u57fa\u56e0\u662f\u753146\u6761\u67d3\u8272\u4f53\u6240\u7ec4\u6210\uff0c\u4ece\u53cc\u4eb2\u5904\u6240\u7ee7\u627f\u7684\u57fa\u56e0\u662f\u6210\u5bf9\u5b58\u5728\u7684\uff0c\u6bcf2\u6761\u4e3a1\u5bf9\u5171\u670923\u5bf9\u3002\u5728\u8fea\u4e54\u6cbb\u7efc\u5408\u75c7\u4e2d\uff0c\u7b2c22\u53f7\u67d3\u8272\u4f53\u4e2d\u88ab\u79f0\u4e3a\u957f\u81c2(22q)\u7684\u4e00\u90e8\u5206(22q11.2)\u7f3a\u5931\uff0c\u5bfc\u81f4\u8be5\u90e8\u5206\u4e2d\u6240\u5305\u542b\u7684\u57fa\u56e0\u53d1\u751f\u5f02\u5e38\uff0c\u56e0\u800c\u51fa\u73b0\u5404\u79cd\u75c5\u72b6\u3002(\u57fa\u4e8e\u8fd9\u4e2a\u7f3a\u5931\u90e8\u4f4d\uff0c\u4e5f\u79f0\u4e3a22 q 11.2\u7f3a\u5931\u7efc\u5408\u75c7)<\/p>\n\n\n\n<p>\u6700\u8fd1\u7684\u7814\u7a76\u8868\u660e\uff0c\u5b58\u5728\u4e8e\u8be5\u533a\u57df\u540d\u4e3aTBX1\u7684\u57fa\u56e0\u5f88\u91cd\u8981\uff0c\u7531\u4e8e\u8be5\u57fa\u56e0\u7684\u7f3a\u5931\u800c\u5bfc\u81f4\u5fc3\u810f\u75be\u75c5\u3001\u5507\u816d\u88c2\u3001\u7279\u6b8a\u7684\u9762\u90e8\u7279\u5f81\u548c\u4f4e\u9499\u8840\u75c7\u7b49\u75c5\u75c7\u3002\u53ef\u4ece\u4e4b\u540e\u9488\u5bf9\u8fea\u4e54\u6cbb\u75c7\u5019\u7fa4\u6240\u5f15\u53d1\u7684\u7279\u6b8a\u75c5\u72b6\u7684\u8bf4\u660e\u4e2d\u4e86\u89e3\u3002<\/p>\n\n\n\n<p>\u4eba\u7c7b\u7684\u7cbe\u5b50\u548c\u5375\u5b50\u5728\u7ec6\u80de\u5206\u88c2\u7684\u8fc7\u7a0b\u4e2d\u753146\u6761\u88ab\u534a\u5206\u4e3a23\u6761\u67d3\u8272\u4f53\uff0c\u53d7\u7cbe\u540e\u53d8\u621046\u6761\u67d3\u8272\u4f53\u3002\u4f46\u662f\uff0c\u5728\u7cbe\u5b50\u548c\u5375\u5b50\u5f62\u6210\u4ee5\u53ca\u53d7\u7cbe\u5375\u7684\u7ec6\u80de\u5206\u88c2\u8fc7\u7a0b\u4e2d\uff0c\u67d3\u8272\u4f53\u53ef\u80fd\u4f1a\u53d1\u751f\u5f02\u5e38\u3002\u591a\u6570\u7684\u60c5\u51b5\u4e0b\uff0c\u5373\u4fbf\u7236\u6bcd\u7684\u57fa\u56e0\u6216\u662f\u67d3\u8272\u4f53\u6ca1\u6709\u5f02\u5e38\uff0c\u4e5f\u4f1a\u56e0\u4e3a\u300c\u7a81\u53d8\u300d\u800c\u4ea7\u751f\u5f02\u5e38\u3002<\/p>\n\n\n\n<p>\u53e6\u5916\u8fea\u4e54\u6cbb\u75c7\u5019\u7fa4\u88ab\u8ba4\u4e3a\u662f\u4ee5\u300c\u5e38\u67d3\u8272\u4f53\u663e\u6027\u9057\u4f20\u300d\u7684\u5f62\u5f0f\u7531\u7236\u6bcd\u4f20\u7ed9\u5b69\u5b50\u7684\uff0c\u670922q11.2\u7f3a\u5931\u67d3\u8272\u4f53\u5f02\u5e38\u7684\u4eba\u5728\u6709\u5b69\u5b50\u7684\u60c5\u51b5\u4e0b\uff0c\u670950%\u7684\u673a\u7387\u4f1a\u5c06\u5176\u4f20\u67d3\u7ed9\u540e\u4ee3\u3002\u7136\u800c\uff0c\u5927\u7ea6\u670910%\u7684\u4eba\u5728\u57fa\u56e0\u4e0a\u4f1a\u53d1\u5c55\u51fa\u8fea\u4e54\u6cbb\u7efc\u5408\u75c7\uff0c\u5176\u4e2d\u5927\u591a\u6570\u662f\u7531\u4e0a\u8ff0\u7a81\u53d8\u800c\u53d1\u5c55\u8d77\u6765\u7684\u3002<\/p>\n\n\n\n<p>\u53d1\u75c5\u7387\u552f\u6bcf4000~5000\u4eba\u4e2d\u4f1a\u67091\u4eba\u7f79\u60a3\uff0c\u662f\u4e00\u79cd\u76f8\u5bf9\u7f55\u89c1\u7684\u5148\u5929\u6027\u75be\u75c5\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/congenital-disease\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u5148\u5929\u6027\u75be\u60a3\u3068\u306f\uff1f\u3010\u533b\u5e2b\u76e3\u4fee\u3011 <\/div>\n          <div class=\"blog-card-excerpt\">\u5148\u5929\u6027\u75be\u60a3\u306f\u751f\u307e\u308c\u305f\u3068\u304d\u306e\u4f53\u306e\u5f62\u3084\u81d3\u5668\u306e\u6a5f\u80fd\u306b\u7570\u5e38\u304c\u3042\u308b\u75be\u60a3\u306e\u3053\u3068\u3092\u6307\u3057\u307e\u3059\u3002\u67d3\u8272\u4f53\u3084\u907a\u4f1d\u5b50\u306e\u7570\u5e38\u3001\u85ac\u5264\u3084\u611f\u67d3\u75c7\u306a\u3069\u69d8\u3005\u306a\u539f\u56e0\u306b\u3088\u308a\u8d77\u3053\u308b\u3053...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"c4\"><span class=\"ez-toc-section\" id=\"%E8%BF%AA%E4%B9%94%E6%B2%BB%E7%BB%BC%E5%90%88%E7%97%87%E7%9A%84%E7%97%87%E7%8A%B6%E5%92%8C%E7%89%B9%E7%82%B9\"><\/span><strong><strong>\u8fea\u4e54\u6cbb\u7efc\u5408\u75c7\u7684\u75c7\u72b6\u548c\u7279\u70b9<\/strong><\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u5728\u8fea\u4e54\u6cbb\u7efc\u5408\u75c7\u4e2d\u7b2c22\u53f7\u67d3\u8272\u4f53\u957f\u81c2\u7684\u90e8\u5206\u7f3a\u5931\u5bf9\u591a\u4e2a\u5668\u5b98\u7684\u5f62\u6210\u9020\u6210\u5f71\u54cd\u3002\u7279\u522b\u662f\u5f71\u54cd\u8f83\u5927\u7684\u5fc3\u810f\u3001\u80f8\u817a\u548c\u7532\u72b6\u65c1\u817a\u7b49\u5b58\u5728\u4e8e\u8116\u5b50\u5230\u80f8\u90e8\u7684\u810f\u5668\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"c4-1\"><span class=\"ez-toc-section\" id=\"%E5%85%88%E5%A4%A9%E6%80%A7%E5%BF%83%E8%84%8F%E7%97%85\"><\/span><strong><strong>\u5148\u5929\u6027\u5fc3\u810f\u75c5<\/strong><\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8fea\u4e54\u6cbb\u7efc\u5408\u75c7\u8f83\u5e38\u4f75\u53d1\u5148\u5929\u6027\u5fc3\u810f\u75c5\uff0c\u5982\u6cd5\u4e50\u6c0f\u56db\u8054\u75c7\u6216\u4e3b\u52a8\u8109\u5f13\u4e2d\u65ad\u7b49\u60c5\u51b5\u8f83\u591a\u3002\u7279\u522b\u662f\u4f75\u53d1\u6709\u5fc3\u5ba4\u4e2d\u9694\u7f3a\u635f\u3001\u4e3b\u52a8\u8109\u8de8\u4f4d\u3001\u80ba\u52a8\u8109\u72ed\u7a84\u548c\u53f3\u5fc3\u5ba4\u80a5\u5927\u8fd94\u5927\u7279\u5f81\u5730\u7684\u6cd5\u4e50\u6c0f\u56db\u8054\u7684\u60c5\u51b5\u8f83\u591a\uff0c\u636e\u8bf4\u7ea615%\u7684\u6cd5\u4e50\u6c0f\u56db\u8054\u75c7\u4e0e\u8fea\u4e54\u6cbb\u7efc\u5408\u75c7\u6709\u5173\u3002<\/p>\n\n\n\n<p>\u4e25\u91cd\u7684\u5148\u5929\u6027\u5fc3\u810f\u75c5\u5c06\u5bfc\u81f4\u5fc3\u529b\u8870\u7aed(\u547c\u5438\u56f0\u96be\u3001\u4f53\u91cd\u589e\u52a0\u4e0d\u4f73\u3001\u54fa\u4e73\u56f0\u96be\u7b49)\u548c\u53d1\u7ec0\u3002\u5148\u5929\u6027\u5fc3\u810f\u75c5\u7684\u4e25\u91cd\u7a0b\u5ea6\u4e0e\u751f\u547d\u9884\u540e\u5bc6\u5207\u76f8\u5173\uff0c\u56e0\u6b64\u9700\u8981\u8fdb\u884c\u9002\u5f53\u7684\u6cbb\u7597\u3002<\/p>\n\n\n\n<p>\u6700\u8fd1\uff0c\u5728\u65b0\u751f\u513f~\u5a74\u513f\u671f\u8fdb\u884c\u5e03\u83b1\u6d1b\u514b-\u6258\u9a6c\u65af-\u9676\u897f\u683c\u5206\u6d41\u672f(Blalock-Taussig)\u7b49\u77ed\u8def\u624b\u672f\u548c\u83b1\u65af\u7279\u5229\u624b\u672f\u7b49\u7684\u5fc3\u5185\u4fee\u5fa9\u624b\u672f\uff0c\u751f\u6d3b\u9884\u540e\u5f97\u5230\u6539\u5584\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"c4-2\"><span class=\"ez-toc-section\" id=\"%E7%89%B9%E6%AE%8A%E9%9D%A2%E9%83%A8%E7%89%B9%E5%BE%81\"><\/span><strong><strong>\u7279\u6b8a\u9762\u90e8\u7279\u5f81<\/strong><\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8fea\u4e54\u6cbb\u7efc\u5408\u75c7\u60a3\u8005\u7684\u9762\u90e8\u7279\u5f81\u4fdd\u62ec\u8033\u4f4d\u4f4e\u3001\u5507\u989a\u88c2\u3001\u4e0b\u5df4\u540e\u7f29\u3001\u5c0f\u5634\u3001\u773c\u8ddd\u8f83\u5f00\u7b49\u3002\u5982\u679c\u56e0\u4e3a\u5507\u989a\u88c2\u800c\u5f15\u8d77\u54fa\u4e73\u56f0\u96be\u7684\u8bdd\uff0c\u5219\u53ef\u8fdb\u884c\u9935\u517b\u7ba1\u9935\u517b\u7b49\u8425\u517b\u7ba1\u7406\u3002\u4e5f\u53ef\u9488\u5bf9\u5507\u989a\u88c2\u8fdb\u884c\u624b\u672f\u5e76\u7ed9\u4e88\u6cbb\u7597\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"c4-3\"><span class=\"ez-toc-section\" id=\"%E8%83%B8%E8%85%BA%E5%8F%91%E8%82%B2%E4%B8%8D%E5%85%A8\"><\/span><strong><strong>\u80f8\u817a\u53d1\u80b2\u4e0d\u5168<\/strong><\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u80f8\u817a\u662fT\u7ec6\u80de\u6b63\u5e38\u53d1\u80b2\u6240\u9700\u7684\u5668\u5b98\uff0c\u5728\u514d\u75ab\u529f\u80fd\u4e2d\u8d77\u6838\u5fc3\u4f5c\u7528\u3002\u5728\u8fea\u4e54\u6cbb\u7efc\u5408\u75c7\u4e2d\uff0c\u80f8\u817a\u7684\u4e0d\u5b58\u5728\u6216\u662f\u53d1\u80b2\u4e0d\u5168\u4f1a\u5bfc\u81f4T\u7ec6\u80de\u6570\u91cf\u964d\u4f4e\u3002\u8fd9\u5c06\u5bfc\u81f4\u514d\u75ab\u7cfb\u7edf\u4e0d\u8db3\uff0c\u8fdb\u800c\u5bf9\u5404\u79cd\u4f20\u67d3\u75c5\u7684\u62b5\u6297\u529b\u964d\u4f4e\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"c4-4\"><span class=\"ez-toc-section\" id=\"%E7%94%B2%E7%8A%B6%E6%97%81%E8%85%BA%E5%8A%9F%E8%83%BD%E4%BD%8E%E4%B8%8B\"><\/span><strong><strong>\u7532\u72b6\u65c1\u817a\u529f\u80fd\u4f4e\u4e0b<\/strong><\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u7532\u72b6\u65c1\u817a\u662f\u9888\u90e8\u7532\u72b6\u817a\u540e\u9762\u7684\u4e00\u4e2a\u7c73\u7c92\u5927\u5c0f\u7684\u5c0f\u5668\u5b98\u3002\u56e0\u4ea7\u751f\u7532\u72b6\u65c1\u817a\u6fc0\u7d20\uff0c\u5bf9\u8c03\u8282\u8840\u6db2\u4e2d\u9499\u548c\u78f7\u7684\u6d53\u5ea6\u5f88\u91cd\u8981\u3002\u5728\u8fea\u4e54\u6cbb\u7efc\u5408\u75c7\u4e2d\uff0c\u7531\u4e8e\u7532\u72b6\u65c1\u817a\u53d1\u80b2\u4e0d\u826f\uff0c\u800c\u4ea7\u751f\u4e0d\u4e86\u7532\u72b6\u65c1\u817a\u6fc0\u7d20\u8fdb\u800c\u5bfc\u81f4\u4f4e\u9499\u8840\u75c7\u3002\u5f53\u53d1\u751f\u4f4e\u9499\u8840\u75c7\u65f6\uff0c\u5bb9\u6613\u4ea7\u751f\u75c9\u631b\u548c\u5fc3\u5f8b\u4e0d\u6574\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"c4-5\"><span class=\"ez-toc-section\" id=\"%E6%99%BA%E8%83%BD%E7%89%B9%E5%BE%81\"><\/span><strong><strong>\u667a\u80fd\u7279\u5f81<\/strong><\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5728\u8fea\u4e54\u6cbb\u7efc\u5408\u75c7\u4e2d\uff0c\u5b58\u5728\u667a\u529b\u4f4e\u4e0b\u548c\u8bed\u8a00\u8fdf\u7f13\u7684\u75c5\u4f8b\u3002\u751a\u81f3\u5728\u8fdb\u5165\u5c0f\u5b66\u5c31\u8bfb\u4e4b\u524d\u5c31\u5f88\u660e\u663e\u7684\u60c5\u51b5\u8f83\u591a\uff0c\u5e76\u4e14\u6709\u4e9b\u4eba\u60a3\u6709\u4f1a\u6709\u5f71\u54cd\u6c9f\u901a\u7684\u53d1\u80b2\u969c\u788d\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large is-resized\"><img decoding=\"async\" width=\"1024\" height=\"709\" src=\"\/nipt\/wp-content\/uploads\/2022\/02\/928633_m-min-1024x709.jpg\" alt=\"\u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa4\u306e\u75c7\u72b6\u3068\u7279\u5fb4\" class=\"wp-image-22630\" style=\"width:600px;height:400px\" title=\"\u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa4\u306e\u75c7\u72b6\u3068\u7279\u5fb4\"\/><\/figure><\/div>\n\n\n<h2 class=\"wp-block-heading\" id=\"c5\"><span class=\"ez-toc-section\" id=\"%E8%BF%AA%E4%B9%94%E6%B2%BB%E7%BB%BC%E5%90%88%E7%97%87%E7%9A%84%E6%A3%80%E6%9F%A5%E4%B8%8E%E8%AF%8A%E6%96%AD\"><\/span><strong><strong>\u8fea\u4e54\u6cbb\u7efc\u5408\u75c7\u7684\u68c0\u67e5\u4e0e\u8bca\u65ad<\/strong><\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u6839\u636e\u4e34\u5e8a\u53d1\u73b0\uff0c\u5982\u5fc3\u810f\u75c5\u3001\u4f4e\u9499\u8840\u75c7\u548cT\u7ec6\u80de\u6570\u91cf\u51cf\u5c11\u7b49\u68c0\u67e5\u7ed3\u679c\uff0c\u6000\u7591\u662f\u5426\u7f79\u60a3\u8fea\u4e54\u6cbb\u7efc\u5408\u75c7\u3002\u900f\u8fc7\u8d85\u58f0\u5fc3\u52a8\u56fe\u68c0\u67e5\u5fc3\u810f\u75be\u75c5\uff0c\u5e76\u900f\u8fc7\u8840\u6db2\u68c0\u67e5\u6765\u8bc4\u4f30T\u7ec6\u80de\u7684\u529f\u80fd\u3001\u4f4e\u9499\u8840\u75c7\u548c\u7532\u72b6\u65c1\u817a\u6fc0\u7d20\u3002<\/p>\n\n\n\n<p>\u5728\u901a\u8fc7\u68c0\u67e5\u3001\u8c18\u8be2\u548c\u770b\u8bca\u540e\u7591\u4f3c\u7f79\u60a3\u8fea\u4e54\u6cbb\u7efc\u5408\u75c7\u540e\uff0c\u901a\u8fc7\u540d\u4e3aFISH\u6cd5\u548caCGH\u6cd5\u7684\u67d3\u8272\u4f53\u68c0\u67e5\u786e\u8bca\u4e3a22q111.2\u7f3a\u5931\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"c6\"><span class=\"ez-toc-section\" id=\"%E8%BF%AA%E4%B9%94%E6%B2%BB%E7%BB%BC%E5%90%88%E7%97%87%E7%9A%84%E6%B2%BB%E7%96%97\"><\/span><strong><strong>\u8fea\u4e54\u6cbb\u7efc\u5408\u75c7\u7684\u6cbb\u7597<\/strong><\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u5bf9\u4e8e\u8fea\u4e54\u6cbb\u7efc\u5408\u5f81,\u6700\u91cd\u8981\u7684\u662f\u6cbb\u7597\u4e0e\u751f\u547d\u9884\u540e\u5bc6\u5207\u76f8\u5173\u7684\u5148\u5929\u6027\u5fc3\u810f\u75c5\u3002\u5982\u524d\u6240\u8ff0\uff0c\u9488\u5bf9\u6700\u5e38\u89c1\u7684\u6cd5\u4e50\u6c0f\u56db\u8054\u75c7\uff0c\u5728\u65b0\u751f\u513f~\u5a74\u513f\u671f\u8fdb\u884c\u5e03\u83b1\u6d1b\u514b-\u6258\u9a6c\u65af-\u9676\u897f\u683c\u5206\u6d41\u672f(Blalock-Taussig)\u7b49\u77ed\u8def\u624b\u672f\u548c\u83b1\u65af\u7279\u5229\u624b\u672f\u7b49\u7684\u5fc3\u5185\u4fee\u5fa9\u624b\u672f\u3002<\/p>\n\n\n\n<p>\u4f4e\u9499\u8840\u75c7\u7684\u6cbb\u7597\u5305\u62ec\u8865\u5145\u9499\u548c\u7ef4\u751f\u7d20D\u3002<\/p>\n\n\n\n<p>\u5bf9\u4e8e\u80f8\u817a\u53d1\u80b2\u4e0d\u5168\u800c\u5f15\u8d77\u7684\u514d\u75ab\u529f\u80fd\u4e0b\u964d\uff0c\u53ef\u901a\u8fc7\u9020\u8840\u5e72\u7ec6\u80de\u79fb\u690d\u3001\u6297\u751f\u7d20\u548c\u4e00\u79cd\u79f0\u4e3aG-CSF(\u7c92\u7ec6\u80de\u96c6\u843d\u523a\u6fc0\u56e0\u5b50)\u7684\u514d\u75ab\u7ec6\u80de\u751f\u957f\u56e0\u5b50\u6765\u8865\u5145\u514d\u75ab\u529f\u80fd\u3002<\/p>\n\n\n\n<p>\u6b64\u5916\uff0c\u5982\u679c\u6709\u7cbe\u795e\u53d1\u80b2\u8fdf\u7f13\u7684\u60c5\u51b5\uff0c\u9700\u8981\u4e0e\u5b66\u6821\u548c\u653f\u5e9c\u673a\u6784\u534f\u5546\uff0c\u63a5\u53d7\u5b66\u6821\u751f\u6d3b\u548c\u5c31\u4e1a\u804c\u4e1a\u57f9\u8bad\u7b49\u793e\u4f1a\u652f\u6301\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"c7\"><span class=\"ez-toc-section\" id=\"%E8%BF%AA%E4%B9%94%E6%B2%BB%E7%BB%BC%E5%90%88%E7%97%87%E7%9A%84%E9%A2%84%E5%90%8E%E5%92%8C%E5%AF%BF%E5%91%BD\"><\/span><strong><strong>\u8fea\u4e54\u6cbb\u7efc\u5408\u75c7\u7684\u9884\u540e\u548c\u5bff\u547d<\/strong><\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u6ca1\u6709\u5173\u4e8e\u8fea\u4e54\u6cbb\u7efc\u5408\u75c7\u7684\u957f\u671f\u9884\u540e\u6216\u5bff\u547d\u7684\u8be6\u7ec6\u6570\u636e\uff0c\u4f46\u5982\u679c\u53ef\u4ee5\u5bf9\u5fc3\u810f\u75c5\u8fdb\u884c\u9002\u5f53\u7684\u6cbb\u7597\u548c\u63a7\u5236\uff0c\u5219\u53ef\u4ee5\u4e0a\u5b66\u6216\u5de5\u4f5c\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"c8\"><span class=\"ez-toc-section\" id=\"%E6%80%BB%E7%BB%93\"><\/span><strong><strong>\u603b\u7ed3<\/strong><\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u8fea\u4e54\u6cbb\u7efc\u5408\u75c7\u662f\u7531\u4e8e\u7b2c22\u53f7\u67d3\u8272\u4f53\u957f\u81c2\u7684\u4e00\u90e8\u5206(22q11.2\u533a\u57df)\u51fa\u73b0<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u5c0f\u7f3a\u5931(\u5fae\u7f3a\u5931)\u800c\u5f15\u8d77\u7684\u75be\u75c5<\/a>\u3002\u4e3b\u8981\u75c7\u72b6\u662f\u7532\u72b6\u65c1\u817a\u548c\u80f8\u817a\u53d1\u80b2\u4e0d\u5168\u3001\u5fc3\u810f\u548c\u8840\u7ba1\u53d1\u80b2\u4e0d\u826f\u5f15\u8d77\u7684\u5148\u5929\u6027\u5fc3\u810f\u75c5\u3001\u7532\u72b6\u65c1\u817a\u529f\u80fd\u51cf\u9000\u548c\u514d\u75ab\u7f3a\u9677\u3002\u7279\u522b\u662f\u4e0e\u751f\u547d\u9884\u540e\u6709\u5173\u5982\u6cd5\u4e50\u6c0f\u56db\u8054\u75c7\u7b49\u7684\u5148\u5929\u6027\u5fc3\u810f\u75c5\uff0c\u5728\u65b0\u751f\u513f\u671f~\u5a74\u513f\u671f\u90fd\u9700\u8981\u8fdb\u884c\u5fc3\u810f\u624b\u672f\uff0c\u82e5\u662f\u6cbb\u7597\u5f97\u5f53\uff0c\u5219\u53ef\u4ee5\u6b63\u5e38\u4e0a\u5b66\u6216\u4e0a\u73ed\u3002&nbsp;<\/p>\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 references\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<p>\u3010\u53c2\u8003\u6587\u732e\u3011<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u9057\u4f20\u6027\u75be\u75c5\u52a0 &#8211; <a rel=\"noreferrer noopener\" href=\"https:\/\/genetics.qlife.jp\/diseases\/22q11-2-deletion\" data-type=\"URL\" data-id=\"https:\/\/genetics.qlife.jp\/diseases\/22q11-2-deletion\" target=\"_blank\">22q11.2\u7f3a\u5931\u7efc\u5408\u75c7<\/a><\/li>\n\n\n\n<li>\u7591\u96be\u75c5\u75c7\u4fe1\u606f\u4e2d\u5fc3 &#8211; <a rel=\"noreferrer noopener\" href=\"https:\/\/www.nanbyou.or.jp\/entry\/5317\" data-type=\"URL\" data-id=\"https:\/\/www.nanbyou.or.jp\/entry\/5317\" target=\"_blank\">22q11.2\u7f3a\u5931\u7efc\u5408\u5f81 (\u96be\u6cbb\u6027\u75be\u75c5203)<\/a><\/li>\n\n\n\n<li>\u513f\u7ae5\u6162\u6027\u7279\u5b9a\u75be\u75c5\u4e2d\u5fc3 &#8211; <a rel=\"noreferrer noopener\" href=\"https:\/\/www.shouman.jp\/disease\/instructions\/10_02_019\/\" data-type=\"URL\" data-id=\"https:\/\/www.shouman.jp\/disease\/instructions\/10_02_019\/\" target=\"_blank\">\u80f8\u817a\u53d1\u80b2\u4e0d\u5168 (\u8fea\u4e54\u6cbb\u7efc\u5408\u5f81\/22q11.2\u7f3a\u5931\u7efc\u5408\u5f81)<\/a><\/li>\n\n\n\n<li>\u533b\u7597\u7b14\u8bb0 &#8211; <a rel=\"noreferrer noopener\" href=\"https:\/\/medicalnote.jp\/contents\/180927-001-EV\" target=\"_blank\">22q11.2\u7f3a\u5931\u7efc\u5408\u5f81\u662f\u4ec0\u4e48\u75c5?<\/a><\/li>\n<\/ul>\n<\/div><\/div>\n","protected":false},"excerpt":{"rendered":"\u4ec0\u4e48\u662f\u8fea\u4e54\u6cbb\u7efc\u5408\u75c7 \u4ec0\u4e48\u65f6\u5019\u80fd\u77e5\u9053\u662f\u8fea\u4e54&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/digeorge-syndrome\/?lang=zh-hans\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":13,"featured_media":22627,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[14],"tags":[],"class_list":["post-23809","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\/23809","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\/13"}],"replies":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/comments?post=23809"}],"version-history":[{"count":6,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/23809\/revisions"}],"predecessor-version":[{"id":84080,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/23809\/revisions\/84080"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/22627"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=23809"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=23809"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=23809"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}