{"id":23811,"date":"2022-02-15T09:00:00","date_gmt":"2022-02-15T00:00:00","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/1p36-deletion-syndrome\/"},"modified":"2024-11-28T16:19:43","modified_gmt":"2024-11-28T07:19:43","slug":"1p-36-deletion-syndrome","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/1p-36-deletion-syndrome\/?lang=zh-hans","title":{"rendered":"1p36\u7f3a\u5931\u7efc\u5408\u75c7\u662f\u4ec0\u4e48 \u3010\u533b\u751f\u76d1\u7763\u3011"},"content":{"rendered":"\n<div class=\"toc\">\n\t<ul>\n\t\t<li><a href=\"#c1\">\u4ec0\u4e48\u662f1p36\u7f3a\u5931\u7efc\u5408\u75c7?<\/a>\n\t\t\t<ul>\n\t\t\t\t<li><a href=\"#c1-1\">\u4ec0\u4e48\u662f\u67d3\u8272\u4f53\u7f3a\u5931?<\/a><\/li>\n\t\t\t<\/ul>\n\t\t<\/li>\n\t\t<li><a href=\"#c2\">1p36\u7f3a\u5931\u7efc\u5408\u75c7\u7684\u75c7\u72b6<\/a><\/li>\n\t\t<li><a href=\"#c3\">1p36\u7f3a\u5931\u7efc\u5408\u75c7\u7684\u7279\u5f81<\/a>\n\t\t\t<ul>\n\t\t\t\t<li><a 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class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-20\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/1p-36-deletion-syndrome\/?lang=zh-hans\/#%E9%80%9A%E8%BF%87NIPT%E6%96%B0%E5%9E%8B%E4%BA%A7%E5%89%8D%E8%AF%8A%E6%96%AD%E5%8F%AF%E7%9F%A5%E9%81%93%E7%9A%84%E4%BA%8B\" >\u901a\u8fc7NIPT(\u65b0\u578b\u4ea7\u524d\u8bca\u65ad)\u53ef\u77e5\u9053\u7684\u4e8b<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-21\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/1p-36-deletion-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%AF1p36%E7%BC%BA%E5%A4%B1%E7%BB%BC%E5%90%88%E7%97%87\"><\/span><strong><strong>\u4ec0\u4e48\u662f1p36\u7f3a\u5931\u7efc\u5408\u75c7?<\/strong><\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>1p36\u7f3a\u5931\u7efc\u5408\u75c7(\u82f1\u6587\u540d\u79f0:<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/1p-36-deletion-syndrome\/\">1p36<\/a> Deletion Syndrome)\u662f\u7531\u67d3\u8272\u4f53\u7f3a\u5931\u6240\u5f15\u8d77\u7684\uff0c\u5176\u4e2d\u5305\u542b1\u53f7\u67d3\u8272\u4f53\u7aef\u7c92\u7684\u7279\u5b9a\u672b\u7aef\u533a\u57df\u3002\u56e0\u4e3a1p36\u7684\u90e8\u4f4d\u592a\u5c0f\uff0c\u5728\u4e00\u822c\u67d3\u8272\u4f53\u68c0\u67e5\u4e2d\u5f88\u96be\u88ab\u53d1\u73b0\uff0c\u662f\u5148\u5929\u6027\u67d3\u8272\u4f53\u5f02\u5e38\u7efc\u5408\u75c7\u7684\u4e00\u79cd\uff0c\u88ab\u539a\u751f\u52b3\u52a8\u7701\u8ba4\u5b9a\u4e3a\u7279\u6b8a\u75be\u75c5\u3002<\/p>\n\n\n\n<p>\u7531\u4e8e\u542b\u6709\u591a\u4e2a\u57fa\u56e0\u7f3a\u5931\u7684\u5f71\u54cd\uff0c\u5176\u5bf9\u75be\u75c5\u7684\u8d21\u732e\u53ef\u80fd\u56e0\u7f3a\u5931\u7684\u57fa\u56e0\u800c\u5f02\uff0c\u867d\u7136\u60a3\u8005\u95f4\u5b58\u5728\u5dee\u5f02\uff0c\u4f46\u51fa\u751f\u540e\u4ece\u5178\u578b\u7684\u9885\u9762\u3001\u53d1\u80b2\u8fdf\u7f13\uff1b\u667a\u529b\u969c\u788d\u3001\u766b\u75eb\u53d1\u4f5c\u3001\u89c6\u529b\u969c\u788d\u3001\u542c\u529b\u969c\u788d\u3001\u8eab\u6750\u77ee\u5c0f\u3001\u7279\u6b8a\u7684\u9762\u90e8\u7279\u5f81\u3001\u8111\u90e8\u5f02\u5e38\u3001\u816d\u88c2\u3001\u5148\u5929\u6027\u5fc3\u810f\u75c5\u3001\u5fc3\u808c\u75c5\u548c\u80be\u810f\u5f02\u5e38\u7b49\u4e34\u5e8a\u7279\u5f81\u4e2d\u53ef\u4ee5\u8bc6\u522b\u3002<\/p>\n\n\n\n<p>\u539f\u56e0\u53ef\u80fd\u662f\u5148\u5929\u6027\u67d3\u8272\u4f53\u4e0a\u7684\u7a81\u53d8\uff0c\u4e5f\u53ef\u80fd\u662f\u4ece\u67d3\u8272\u4f53\u4e0a\u6613\u4f4d\u7684\u7236\u6bcd\u4e2d\u7684\u4e00\u65b9\u7ee7\u627f\u800c\u6765\u76841\u53f7\u67d3\u8272\u4f53\u7f3a\u5931\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"c1-1\"><span class=\"ez-toc-section\" id=\"%E4%BB%80%E4%B9%88%E6%98%AF%E6%9F%93%E8%89%B2%E4%BD%93%E7%BC%BA%E5%A4%B1\"><\/span><strong><strong>\u4ec0\u4e48\u662f\u67d3\u8272\u4f53\u7f3a\u5931?<\/strong><\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5728\u603b\u517146\u6761\u67d3\u8272\u4f53\u4e2d\uff0c\u670922\u79cd\u5e38\u67d3\u8272\u4f53\u6bcf2\u67611\u7ec4(\u517144\u6761)\u548c2\u79cd\u6027\u67d3\u8272\u4f53(\u7537\u6027\u4e3aXY\u3001\u5973\u6027\u4e3aXX)\u3002<\/p>\n\n\n\n<p>\u6bcf2\u6839\u4e2d\u76841\u6839\u4ece\u6bcd\u4eb2\u90a3\u91cc\u7ee7\u627f\uff0c\u53e61\u6839\u4ece\u7236\u4eb2\u90a3\u91cc\u7ee7\u627f\u9057\u4f20\u4fe1\u606f\u3002<\/p>\n\n\n\n<p>\u53e6\u5916\uff0c\u5939\u5728\u67d3\u8272\u4f53\u4e2d\u5fc3\u7684\u77ed\u4fa7\u90e8\u5206\u79f0\u4e3a\u77ed\u81c2 (p) \uff0c\u957f\u90e8\u5206\u79f0\u4e3a\u957f\u81c2 (q) \u3002<\/p>\n\n\n\n<p>\u4e5f\u79f0\u4e3a\u4e3a\u7f3a\u5931\u7efc\u5408\u75c7\uff0c\u4e5f\u79f0\u4e3a\u5fae\u7f3a\u5931\u7efc\u5408\u5f81\uff0c\u5176\u8bca\u65ad\u5305\u62ec\u4f20\u7edf\u7684G\u5e26\u3001\u8367\u5149\u539f\u4f4d\u6742\u4ea4\u3001\u5fae\u9635\u5217\u67d3\u8272\u4f53\u68c0\u67e5\u548c\u6bcd\u4f53\u8840\u6d46\u4e2d\u7684\u65e0\u7ec6\u80deDNA\u5206\u6790\u3002\u5404\u6709\u5404\u81ea\u4e0d\u540c\u7684\u7279\u5f81\u3002<\/p>\n\n\n\n<p>\u6cbb\u7597\u65b9\u9762\uff0c\u7531\u4e8e\u662f1980\u5e74\u4ee3\u9996\u6b21\u53d1\u73b0\u7684\u75be\u75c5\uff0c\u7531\u4e8e\u4e5f\u662f\u4e00\u79cd\u7279\u6b8a\u75be\u75c5\u56e0\u6b64\u60a3\u8005\u8f83\u5c11\uff0c\u60a3\u8005\u4e4b\u95f4\u7684\u75c5\u7406\u72b6\u51b5\u4e5f\u4e0d\u540c\uff0c1p36\u7f3a\u5931\u7efc\u5408\u75c7\u7684\u6cbb\u7597\u76ee\u6807\u56e0\u5c1a\u672a\u786e\u5b9a\u81f4\u75c5\u57fa\u56e0\uff0c\u6240\u4ee5\u8fd8\u672a\u5efa\u7acb\u57fa\u672c\u6cbb\u7597\u65b9\u6cd5\uff0c\u5e76\u4e14\u5c06\u5bf9\u4e34\u5e8a\u7279\u5f81\u8fdb\u884c\u5bf9\u75c7\u6cbb\u7597\u3002<\/p>\n\n\n\n<p>\u5728\u9884\u540e\u65b9\u9762\uff0c\u56e0\u4f34\u968f\u7684\u75be\u75c5\u6709\u6301\u7eed\u7ec8\u751f\u7684\uff0c\u4e5f\u6709\u5f97\u5230\u7f13\u89e3\u7684\uff0c\u5728\u5bff\u547d\u65b9\u9762\uff0c\u60c5\u51b5\u548c\u6cbb\u7597\u4e00\u6837\u7f3a\u53d1\u76f8\u5173\u77e5\u8bc6\u3002<\/p>\n\n\n\n<p><sup>\u203b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/1p-36-deletion-syndrome\/\">1p36<\/a> (1\u8868\u793a1\u53f7\u67d3\u8272\u4f53\uff0c p\u8868\u793a\u77ed\u81c2\uff0c 36\u8868\u793a\u533a\u57df\u3002)<\/sup><br><sup>\u203b\u67d3\u8272\u4f53<sup>\u30fb\u30fb\u30fb<\/sup>\u4eba\u4f53\u7ec6\u80de\u6838\u4e2d\u7684\u4e00\u79cd\u6746\u72b6\u7269\u8d28\uff0c\u5176\u4e2d\u5305\u542b\u7528\u4e8e\u4f20\u9012\u9057\u4f20\u4fe1\u606f\u7684\u57fa\u56e0\u3002<\/sup><br><sup>\u203b1\u53f7\u67d3\u8272\u4f53\u30fb\u30fb\u30fb\u662f22\u79cd\u5e38\u67d3\u8272\u4f53\u4e2d\u7684\u4e00\u79cd\uff0c\u7279\u5f81\u662f\u6700\u957f\u3002<\/sup><\/p>\n\n\n\n    <a href=\"\/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<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"600\" height=\"400\" src=\"\/nipt\/wp-content\/uploads\/2022\/02\/medical-2-min.png\" alt=\"p36\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u306f\" class=\"wp-image-23019\"\/><\/figure><\/div>\n\n\n<h2 class=\"wp-block-heading\" id=\"c2\"><span class=\"ez-toc-section\" id=\"1p36%E7%BC%BA%E5%A4%B1%E7%BB%BC%E5%90%88%E7%97%87%E7%9A%84%E7%97%87%E7%8A%B6\"><\/span><strong><strong>1p36\u7f3a\u5931\u7efc\u5408\u75c7\u7684\u75c7\u72b6<\/strong><\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>1p36\u7f3a\u5931\u7efc\u5408\u75c7\u7684\u4e3b\u8981\u75c5\u72b6\u5305\u62ec\u53d1\u80b2\u8fdf\u7f13\u3001\u667a\u529b\u969c\u788d\u3001\u75c9\u631b\u3001\u89c6\u529b\u969c\u788d\u3001\u542c\u529b\u969c\u788d\u3001\u8eab\u6750\u77ee\u5c0f\u3001\u8111\u90e8\u5f02\u5e38\u3001\u8138\u90e8\u635f\u4f24\u3001\u5148\u5929\u6027\u5fc3\u810f\u75c5\u3001\u5fc3\u808c\u75c7\u3001\u80be\u529f\u80fd\u5f02\u5e38\u3001\u8fd8\u6709\u6807\u8a8c\u6027\u7684\u76f8\u8c8c(\u5e73\u76f4\u7684\u7709\u6bdb\u3001\u8f83\u6df1\u7684\u773c\u7a9d\u3001\u8138\u90e8\u540e\u7f29)\u7b49\u3002\u4f1a\u5728\u4e0b\u9762\u7684\u7279\u5f81\u9879\u76ee\u4e2d\u8be6\u7ec6\u8bf4\u660e\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"c3\"><span class=\"ez-toc-section\" id=\"1p36%E7%BC%BA%E5%A4%B1%E7%BB%BC%E5%90%88%E7%97%87%E7%9A%84%E7%89%B9%E5%BE%81\"><\/span><strong><strong>1p36\u7f3a\u5931\u7efc\u5408\u75c7\u7684\u7279\u5f81<\/strong><\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u57281p36\u7f3a\u5931\u7efc\u5408\u75c7\u4e2d\uff0c\u5df2\u77e5\u8138\u90e8\u548c\u8eab\u4f53\u7684\u7279\u5f81\u8f83\u660e\u663e\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"c3-1\"><span class=\"ez-toc-section\" id=\"%E7%9B%B8%E8%B2%8C\"><\/span><strong><strong>\u76f8\u8c8c<\/strong><\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u72ec\u7279\u7684\u8138\u90e8\u7279\u5f81 (\u53d1\u751f\u7387\u5927\u7ea6100%)<\/p>\n\n\n\n<p>\u5df2\u77e5\u5404\u90e8\u4f4d\u7684\u7279\u5f81\u5982\u5e73\u76f4\u7684\u7709\u6bdb\u3001\u6df1\u773c\u7a9d\u3001\u9f3b\u6a11\u5bbd\u4e14\u51f9\u9677\u3001\u5634\u5507\u957f\u3001\u5c16\u4e0b\u5df4\u3001\u524d\u989d\u9762\u5927\u3001\u98a7\u9aa8\u5c0f\u3001\u8868\u76ae\u51f9\u9677\u548c\u8033\u6735\u5411\u540e\u9009\u8f6c\u7b49\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"c3-2\"><span class=\"ez-toc-section\" id=\"%E7%B2%BE%E7%A5%9E%E5%8F%91%E8%82%B2%E5%BB%B6%E8%BF%9F_%E5%8F%91%E7%94%9F%E7%8E%87%E8%BF%91100\"><\/span><strong><strong>\u7cbe\u795e\u53d1\u80b2\u5ef6\u8fdf (\u53d1\u751f\u7387\u8fd1100%)<\/strong><\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5927\u7ea690%\u662f\u4e25\u91cd\u7684\u667a\u529b\u969c\u788d\uff0c 10%\u662f\u8f7b\u5ea6\u5230\u4e2d\u5ea6\u3002<\/p>\n\n\n\n<p>\u5728\u667a\u529b\u969c\u788d\u4e2d\uff0c\u8bed\u8a00\u53d1\u5c55\u8fdf\u7f13\u7684\u60a3\u8005\u5f88\u591a\uff0c\u5176\u4e2d\u670975%\u7684\u4eba\u65e0\u6cd5\u7528\u8a00\u8bed\u8868\u8fbe\u81ea\u5df1\u7684\u60f3\u6cd5\u3002<\/p>\n\n\n\n<p>\u6b64\u5916\uff0c\u60a3\u8005\u53ef\u80fd\u4f1a\u6709\u81ea\u6b8b\u884c\u4e3a\u548c\u813e\u6c14\u66b4\u8e81\u7b49\u7684\u884c\u4e3a\u5f02\u5e38\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"c3-3\"><span class=\"ez-toc-section\" id=\"%E8%82%8C%E5%BC%A0%E5%8A%9B%E9%99%8D%E4%BD%8E%E5%AF%BC%E8%87%B4%E8%BF%9B%E9%A3%9F%E5%9B%B0%E9%9A%BE_%E5%8F%91%E7%94%9F%E7%8E%87%E2%89%A575\"><\/span><strong><strong>\u808c\u5f20\u529b\u964d\u4f4e\u5bfc\u81f4\u8fdb\u98df\u56f0\u96be (\u53d1\u751f\u7387\u226575%)<\/strong><\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u7531\u4e8e\u808c\u8089\u7684\u6536\u7f29\u548c\u653e\u677e\u7684\u529f\u80fd\u51cf\u5f31\uff0c\u6240\u4ee5\u5728\u541e\u56a5\u98df\u7269\u65f6\u5bb9\u6613\u53d1\u751f\u95ee\u9898\u3002<\/p>\n\n\n\n<p>\u4f1a\u53d1\u751f\u5403\u4e0b\u53bb\u7684\u98df\u7269\u8bef\u5165\u6c14\u7ba1\uff0c\u6216\u662f\u56e0\u80c3\u4e2d\u7684\u98df\u7269\u9006\u6d41\u800c\u5f15\u8d77\u5455\u5410\u7684\u72b6\u51b5\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"c3-4\"><span class=\"ez-toc-section\" id=\"%E5%85%88%E5%A4%A9%E6%80%A7%E5%BF%83%E8%84%8F%E7%97%85_%E5%8F%91%E7%94%9F%E7%8E%8750%E2%80%9470\"><\/span><strong><strong>\u5148\u5929\u6027\u5fc3\u810f\u75c5 (\u53d1\u751f\u738750\u201470%)<\/strong><\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5148\u5929\u6027\u5fc3\u810f\u75c5\uff0c\u662f\u5929\u751f\u5fc3\u810f\u7ed3\u6784\u6709\u5f02\u5e38\u3002<\/p>\n\n\n\n<p>\u5fc3\u810f\u88ab\u5206\u4e3a4\u4e2a\u5fc3\u5ba4\uff0c\u6bcf\u4e2a\u5fc3\u5ba4\u90fd\u8fde\u63a5\u7740\u8f83\u5927\u7684\u8840\u7ba1\u3002<\/p>\n\n\n\n<p>\u5fc3\u5ba4\u7ed3\u6784\u5f02\u5e38\u7684\u7c7b\u578b\u5305\u62ec\u5fc3\u5ba4\u95f4\u58c1\u7a7f\u5b54(\u5fc3\u5ba4\u4e2d\u8188\u7f3a\u635f)\u3001\u5fc3\u8154\u95e8\u7684\u5f00\u5408\u4e0d\u826f(\u5fc3\u74e3\u819c\u75c5)\u548c\u5927\u8840\u7ba1\u79fb\u4f4d(\u4e3b\u52a8\u8109\u9a91\u8de8)\u7b49\u3002<\/p>\n\n\n\n<p>\u8fd9\u4e9b\u5f02\u5e38\u53ef\u80fd\u4f1a\u7ed3\u5408\u5728\u4e00\u8d77\uff0c\u5bfc\u81f4\u542b\u6c27\u7684\u8840\u6db2\u4e0d\u80fd\u6b63\u5e38\u8fdb\u5165\u4eba\u4f53\u3002<\/p>\n\n\n\n<p>\u56e0\u6b64\uff0c\u6709\u65f6\u9700\u8981\u5c3d\u65e9\u8fdb\u884c\u624b\u672f\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"c3-5\"><span class=\"ez-toc-section\" id=\"%E7%97%89%E6%8C%9B%E3%80%81%E7%99%AB%E7%97%AB%E5%8F%91%E4%BD%9C_%E5%8F%91%E7%94%9F%E7%8E%8750%E5%B7%A6%E5%8F%B3\"><\/span><strong><strong>\u75c9\u631b\u3001\u766b\u75eb\u53d1\u4f5c (\u53d1\u751f\u738750%\u5de6\u53f3)<\/strong><\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u766b\u75eb\u6700\u521d\u53d1\u751f\u5728\u51fa\u751f\u540e4\u5929\u52302\u5e74\u51e0\u4e2a\u6708\u4e4b\u95f4\u3002<\/p>\n\n\n\n<p>\u5168\u8eab\u7a81\u7136\u51fa\u73b0\u5173\u8282\u548c\u808c\u8089\u50f5\u76f4\u3001\u624b\u811a\u98a4\u52a8\u7684\u75c9\u631b\u53d1\u4f5c\u3002<\/p>\n\n\n\n<p>\u4e00\u4e9b\u6297\u766b\u75eb\u836f\u7269\u96be\u4ee5\u6709\u6548\u6cbb\u7597 (\u96be\u6cbb\u6027\u766b\u75eb) \u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"c3-6\"><span class=\"ez-toc-section\" id=\"%E5%85%B6%E4%BB%96\"><\/span><strong><strong>\u5176\u4ed6<\/strong><\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5927\u8111\u76ae\u8d28\u7684\u5f62\u6210\u4e00\u751f\u3001\u5927\u6cc9\u95e8\u95ed\u9501\u5ef6\u8fdf\u3001\u6307\u8dbe\u53d8\u5f62\u3001\u7532\u72b6\u817a\u529f\u80fd\u4f4e\u4e0b\u3001\u89c6\u529b\u8c03\u8282\u969c\u788d\u3001\u659c\u89c6\u3001\u767d\u5185\u969c\u3001\u8033\u804b\u3001\u5c3f\u9053\u4e0b\u88c2\u3001\u80a5\u80d6\u3001\u542c\u529b\u3001\u9aa8\u9abc\u3001\u751f\u6b96\u5668\u3001\u80be\u810f\u5f02\u5e38\u6216\u7578\u5f62\u7b49\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"c3-7\"><span class=\"ez-toc-section\" id=\"%E9%9C%80%E8%A6%81%E4%B8%8E1p36%E7%BC%BA%E5%A4%B1%E7%BB%BC%E5%90%88%E7%97%87%E9%89%B4%E5%88%AB%E7%9A%84%E7%96%BE%E7%97%85\"><\/span><strong><strong>\u9700\u8981\u4e0e1p36\u7f3a\u5931\u7efc\u5408\u75c7\u9274\u522b\u7684\u75be\u75c5<\/strong><\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u4ee5\u4e0b\u75be\u75c5\u88ab\u6307\u5b9a\u4e3a\u4e0e1p36\u7f3a\u5931\u7efc\u5408\u75c7\u4e00\u6837\u5c5e\u4e8e\u5fae\u7f3a\u5931\u7efc\u5408\u5f81\u7684\u96be\u6cbb\u6027\u75be\u75c5\u3002<\/p>\n\n\n\n<p>\u56e0\u4e3a\u6709\u75c7\u72b6\u76f8\u4f3c\u7684\u90e8\u5206\uff0c\u6240\u4ee5\u9700\u8981\u533a\u5206\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u666e\u62c9\u5fb7\u5a01\u5229\u7efc\u5408\u75c7<\/li>\n\n\n\n<li>\u5b89\u6770\u66fc\u7efc\u5408\u75c7<\/li>\n\n\n\n<li>\u53f2\u5bc6\u65af-\u9a6c\u57fa\u5c3c\u65af\u7efc\u5408\u75c7<\/li>\n<\/ul>\n\n\n\n    <a href=\"\/nipt\/prader-willi-angelman\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u30d7\u30e9\u30c0\u30fc\u30fb\u30a6\u30a3\u30ea\u30fc\u75c7\u5019\u7fa4\u3001\u30a2\u30f3\u30b8\u30a7\u30eb\u30de\u30f3\u75c7\u5019\u7fa4\u3068\u306f\u3010\u533b\u5e2b\u76e3\u4fee\u3011 <\/div>\n          <div class=\"blog-card-excerpt\">15q11.2\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u30d7\u30e9\u30c0\u30fc\u30fb\u30a6\u30a3\u30ea\u30fc\u75c7\u5019\u7fa4\u3084\u30a2\u30f3\u30b8\u30a7\u30eb\u30de\u30f3\u75c7\u5019\u7fa4\u3068\u3082\u8a00\u308f\u308c\u3066\u3044\u308b\u907a\u4f1d\u5b50\u7570\u5e38\u304c\u539f\u56e0\u306e\u6307\u5b9a\u96e3\u75c5\u3067\u3059\u3002\u7279\u5fb4\u304b\u3089\u6cbb\u7642\u65b9\u6cd5\u307e\u3067...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"c4\"><span class=\"ez-toc-section\" id=\"1p36%E7%BC%BA%E5%A4%B1%E7%BB%BC%E5%90%88%E7%97%87%E7%9A%84%E5%8E%9F%E5%9B%A0\"><\/span><strong><strong>1p36\u7f3a\u5931\u7efc\u5408\u75c7\u7684\u539f\u56e0<\/strong><\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>1p36\u7f3a\u5931\u7efc\u5408\u75c7\u7684\u539f\u56e0\u88ab\u8ba4\u4e3a\u662f\u7531\u4e8e1\u53f7\u67d3\u8272\u4f53\u77ed\u81c2\u672b\u7aef\u7aef\u7c92\u533a\u57df\u7684\u7f3a\u5931\u5bfc\u81f4\u8fd9\u4e9b\u533a\u57df\u4e2d\u7684\u57fa\u56e0\u65e0\u6cd5\u6b63\u5e38\u5de5\u4f5c\uff0c\u800c\u8fd9\u4e9b\u533a\u57df\u4e2d\u6709\u51e0\u4e2aMb (1.8 -2.2) \u8fdc\u79bb\u7aef\u7c92\u533a\u57df\u3002\u8be5\u533a\u57df\u5305\u542bMMP23B\u3001GABRD\u3001SKI\u3001PRDM16\u3001KCNAB2\u3001RERE\u3001UBE4B\u3001CASZ1\u3001PDPN\u3001SPEN\u3001ECE1\u3001HSPG2\u3001LUZP1\u7b49\u57fa\u56e0\uff0c\u8868\u660e\u8fd9\u4e9b\u57fa\u56e0\u7684\u529f\u80fd\u5f02\u5e38\u53ef\u80fd\u5bfc\u81f41p36\u7f3a\u5931\u7efc\u5408\u5f81\u7684\u75c7\u72b6\u548c\u7279\u5f81\uff0c\u4f46\u81f4\u75c5\u57fa\u56e0\u5c1a\u672a\u786e\u5b9a\u3002<\/p>\n\n\n\n<p>\u7f3a\u5931\u7684\u539f\u56e0\u53ef\u80fd\u662f\u53d7\u7cbe\u540e\u7684\u5148\u5929\u6027\u7a81\u53d8\uff0c\u6216\u8005\u7236\u6bcd\u53ef\u80fd\u662f\u643a\u5e26\u8005\uff08\u6613\u4f4d\u643a\u5e26\u8005\uff1b\u5177\u6709\u6b63\u5e38\u8868\u578b\u4f46\u6613\u4f4d\u5230\u67d3\u8272\u4f53\uff08\u4e24\u6761\u4e0d\u540c\u7684\u67d3\u8272\u4f53\uff09\u3002\u5b83\u88ab\u8ba4\u4e3a\u662f\u7531\u5f53\u5207\u5272\u53d1\u751f\u5728\u6bcd\u4f53\u5e76\u4e14\u622a\u77ed\u7684\u67d3\u8272\u4f53\u7247\u6bb5\u76f8\u4e92\u4ea4\u6362\u65f6\uff09\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"c5\"><span class=\"ez-toc-section\" id=\"1p36%E7%BC%BA%E5%A4%B1%E7%BB%BC%E5%90%88%E7%97%87%E7%9A%84%E8%AF%8A%E6%96%AD\"><\/span><strong><strong>1p36\u7f3a\u5931\u7efc\u5408\u75c7\u7684\u8bca\u65ad<\/strong><\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>1p36\u7f3a\u5931\u7efc\u5408\u75c7\u7684\u8bca\u65ad\u53d6\u51b3\u4e8e\u4ee5\u4e0b\u68c0\u67e5\u662f\u5426\u53d1\u73b0\u7f3a\u5931\u4ee5\u53ca\u662f\u5426\u5b58\u5728\u4e0a\u8ff0\u75c7\u72b6\u3002<\/p>\n\n\n\n<p>\u7531\u4e8e\u60a3\u8005\u8868\u73b0\u51fa\u4e0d\u540c\u7684\u75c7\u72b6\uff0c\u533b\u751f\u6839\u636e\u4e0d\u540c\u7684\u75c7\u72b6\u7c7b\u578b\u5bf9\u5176\u4e25\u91cd\u7a0b\u5ea6\u8fdb\u884c\u5206\u7c7b\uff0c\u5e76\u901a\u8fc7modified Rankin scale\u8bc4\u4f30\u5176\u662f\u5426\u4e3a\u96be\u6cbb\u6027\u766b\u75eb\u3001\u5bf9\u65e5\u5e38\u751f\u6d3b\u7684\u5f71\u54cd\u3001\u996e\u98df\u548c\u8425\u517b\u72b6\u51b5\u3001\u547c\u5438\u72b6\u51b5\u4e0e\u5fc3\u810f\u75be\u75c5\u3002&nbsp;<\/p>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"c6\"><span class=\"ez-toc-section\" id=\"1p36%E7%BC%BA%E5%A4%B1%E7%BB%BC%E5%90%88%E7%97%87%E7%9A%84%E6%A6%82%E7%8E%87\"><\/span><strong><strong>1p36\u7f3a\u5931\u7efc\u5408\u75c7\u7684\u6982\u7387<\/strong><\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u60a3\u67091p36\u7f3a\u5931\u7efc\u5408\u75c7\u7684\u6982\u7387\u4e3a\u4e16\u754c\u4e0a\u6bcf5000\u4eba\u4e2d\u5c31\u67091\u4eba (0.02%) \uff0c\u65e5\u672c\u56fd\u5185\u6bcf\u5e74\u51fa\u751f\u7ea615\u4eba\u5de6\u53f3\uff0c\u6bcf4000~10000\u4eba\u4e2d\u67091\u4eba\uff0c\u5973\u5b69\u53d1\u751f\u7387\u662f\u7537\u5b69\u76842\u500d\u591a\u3002\u4f46\u662f1p36\u7efc\u5408\u75c7\u672a\u77e5\u7684\u4e8b\u60c5\u8f83\u591a\uff0c\u5e76\u4e14\u53ef\u80fd\u5728\u672a\u88ab\u8bca\u65ad\u51fa\u6216\u901a\u8fc7\u5e38\u89c4\u68c0\u67e5\u96be\u4ee5\u68c0\u6d4b\u51fa\u7684\u60c5\u51b5\u4e0b\u5c31\u88ab\u9001\u5165\u8bbe\u65bd\uff0c\u786e\u5207\u7684\u53d1\u75c5\u9891\u7387\u4ecd\u662f\u672a\u77e5\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=\"\" class=\"wp-image-22630\" style=\"width:600px;height:400px\"\/><\/figure><\/div>\n\n\n<h2 class=\"wp-block-heading\" id=\"c7\"><span class=\"ez-toc-section\" id=\"1p36%E7%BC%BA%E5%A4%B1%E7%BB%BC%E5%90%88%E7%97%87%E7%9A%84%E6%A3%80%E6%9F%A5%E2%80%A7%E6%B2%BB%E7%96%97\"><\/span><strong><strong>1p36\u7f3a\u5931\u7efc\u5408\u75c7\u7684\u68c0\u67e5\u2027\u6cbb\u7597<\/strong><\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>1p36\u7f3a\u5931\u7efc\u5408\u75c7\u7684\u68c0\u67e5\u5305\u62ec\u524d\u9762\u63d0\u5230\u7684G\u6761\u5e26\u6cd5\u3001\u8367\u5149\u539f\u4f4d\u6742\u4ea4\u3001\u5fae\u9635\u5217\u67d3\u8272\u4f53\u68c0\u67e5\u548c\u6bcd\u4f53\u8840\u6d46\u4e2d\u7684\u65e0\u7ec6\u80deDNA\u5206\u6790\uff0c\u8fd9\u4e9b\u68c0\u67e5\u53ef\u786e\u5b9a1\u53f7\u67d3\u8272\u4f53\u672b\u7aef\u7684\u7f3a\u5931\u3002<\/p>\n\n\n\n<p>\u8fd9\u4e9b\u6d4b\u8bd5\u786e\u5b9a\u4e86\u6784\u62101p36\u67d3\u8272\u4f53\u7684DNA\u4e2d\u7aef\u7c92\u533a\u57df\u59161-2Mb\u5904\u7684\u95f4\u8d28\u7f3a\u5931\uff0c\u5e76\u7528\u4e8e\u68c0\u6d4b\u3002<\/p>\n\n\n\n<p>\u5728\u8bb8\u591a\u60c5\u51b5\u4e0b\uff0c\u7531\u4e8e\u7f3a\u5931\u533a\u57df\u7684\u5dee\u5f02\uff0c\u8fd9\u4e9b\u60a3\u8005\u7684\u8868\u578b\u6216\u75c7\u72b6\u5728\u60a3\u8005\u4e4b\u95f4\u5b58\u5728\u5dee\u5f02\u3002<\/p>\n\n\n\n<p>1p36\u7f3a\u5931\u7efc\u5408\u75c7\u60a3\u8005\u7684\u4e34\u5e8a\u548c\u9057\u4f20\u5f02\u8d28\u6027\u53ef\u80fd\u4f7f\u75c7\u72b6\u548c\u9884\u540e\u4fe1\u606f\u590d\u6742\u5316\u3002<\/p>\n\n\n\n<p>\u8fd9\u662f\u56e0\u4e3a\u5c1a\u672a\u786e\u5b9a\u81f4\u75c5\u57fa\u56e0\u3002<\/p>\n\n\n\n<p>\u76ee\u524d\uff0c\u5927\u591a\u6570\u4e0e1p36\u7f3a\u5931\u7efc\u5408\u5f81\u76f8\u5173\u7684\u8868\u578b\u8868\u8fbe\u76f8\u5173\u7684\u57fa\u56e0\u5df2\u7ecf\u5f00\u59cb\u901a\u8fc7\u7ed3\u5408\u5206\u5b50\u7ec6\u80de\u9057\u4f20\u5b66\u6620\u5c04\u548c\u52a8\u7269\u6a21\u578b\u5f00\u53d1\u6765\u9274\u5b9a\u3002<\/p>\n\n\n\n<p>\u6b64\u5916\uff0c\u968f\u7740\u4f7f\u7528\u5fae\u9635\u5217\u7684\u62f7\u8d1d\u6570\u7a81\u53d8\u68c0\u6d4b\u65b9\u6cd5\u7684\u666e\u53ca\uff0c\u9884\u8ba1\u53ef\u4ee5\u5feb\u901f\u8bc6\u522b\u5177\u6709\u4e9b\u5fae1p36\u7f3a\u5931\u7684\u60a3\u8005\u3002<\/p>\n\n\n\n<p>\u5982\u679c\u533b\u751f\u80fd\u591f\u786e\u5b9a\u81f4\u75c5\u57fa\u56e0\u6216\u786e\u5b9a\u7f3a\u5931\u7684\u533a\u57df\u548c\u7a0b\u5ea6\uff0c\u533b\u751f\u5411\u60a3\u8005\u548c\u5bb6\u5c5e\u63d0\u4f9b\u4fe1\u606f\u5c06\u53d8\u5f97\u66f4\u52a0\u5bb9\u6613\u3002<\/p>\n\n\n\n<p>\u53e6\u4e00\u65b9\u9762\uff0c\u57281p36\u7f3a\u5931\u7efc\u5408\u75c7\u4e2d\u89c2\u5bdf\u5230\u7684\u4ea7\u524d\u8d85\u58f0\u6ce2\u68c0\u67e5\u53d1\u73b0\u7684\u62a5\u544a\u5f88\u5c11\u3002\u5173\u4e8e1p36\u7f3a\u9677\u7684\u8d85\u58f0\u6ce2\u68c0\u67e5\u548c\u67d3\u8272\u4f53\u5fae\u9635\u5217\u4ea7\u524d\u8bca\u65ad\u6b63\u5728\u7814\u7a76\u4e2d\uff0c\u5e76\u4e14\u6b63\u5728\u63a2\u7d22\u4e00\u79cd\u6216\u591a\u79cd\u7ec4\u5408\u68c0\u67e5\u65b9\u6cd5\u3002&nbsp;<\/p>\n\n\n\n<p>\u5173\u4e8e\u6cbb\u7597\uff0c\u57fa\u672c\u6cbb\u7597\u5c1a\u672a\u786e\u5b9a\uff0c\u4e3b\u8981\u662f\u9488\u5bf9\u6bcf\u79cd\u75c7\u72b6\u7684\u836f\u7269\u6216\u624b\u672f\u6cbb\u7597\uff0c\u6216\u901a\u8fc7\u4e13\u4e1a\u8bad\u7ec3\u7684\u5bf9\u75c7\u6cbb\u7597\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"c8\"><span class=\"ez-toc-section\" id=\"1p36%E7%BC%BA%E5%A4%B1%E7%BB%BC%E5%90%88%E7%97%87%E7%9A%84%E9%A2%84%E5%90%8E%E2%80%A7%E5%AF%BF%E5%91%BD\"><\/span><strong><strong>1p36\u7f3a\u5931\u7efc\u5408\u75c7\u7684\u9884\u540e\u2027\u5bff\u547d<\/strong><\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u5173\u4e8e\u5bff\u547d\uff0c\u5982\u4e0a\u6240\u8ff0\u81ea\u53d1\u73b0\u4ee5\u6765\u4ec5\u8fc7\u53bb\u4e86\u7ea640\u5e74\u5de6\u53f3\uff0c\u5e76\u4e14\u7531\u4e8e\u60a3\u8005\u6570\u91cf\u8f83\u5c11\uff0c\u56e0\u6b64\u5c1a\u672a\u83b7\u5f97\u51c6\u786e\u7684\u6570\u503c\u3002<\/p>\n\n\n\n<p>\u4f46\u662f\uff0c\u4e5f\u53d1\u73b0\u4e86\u5728\u6210\u5e74\u4e4b\u524d\u5b58\u6d3b\u7684\u75c5\u4f8b\uff0c\u56e0\u6b64\u4e0d\u80fd\u65ad\u5b9a\u662f\u5bff\u547d\u8f83\u77ed\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"c8-1\"><span class=\"ez-toc-section\" id=\"%E9%A2%84%E5%90%8E%E5%A6%82%E4%BD%95%EF%BC%9F\"><\/span><strong><strong>\u9884\u540e\u5982\u4f55\uff1f<\/strong><\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>1p36\u7f3a\u5931\u7efc\u5408\u75c7\u7684\u9884\u540e\u53d6\u51b3\u4e8e\u51fa\u73b0\u7684\u75c7\u72b6\uff0c\u4e5f\u53d6\u51b3\u4e8ep36\u533a\u57df\u7684\u7f3a\u5931\u91cf\u3002<\/p>\n\n\n\n<p>\u5177\u4f53\u800c\u8a00\uff0c\u7cbe\u795e\u53d1\u80b2\u8fdf\u6ede\u7684\u60a3\u8005\u53ef\u6301\u7eed\u7ec8\u751f\uff0c\u766b\u75eb\u53d1\u4f5c\u7f13\u89e3\u7684\u60a3\u8005\u53ef\u6301\u7eed\u7ec8\u751f\uff0c\u5148\u5929\u6027\u5fc3\u810f\u75c5\u60a3\u8005\u7684\u9884\u540e\u53d6\u51b3\u4e8e\u5bf9\u5fc3\u810f\u75c5\u7684\u6cbb\u7597\u3002<\/p>\n\n\n\n<p>1p36\u7f3a\u5931\u7efc\u5408\u5f81\u6ca1\u6709\u6839\u672c\u6027\u7684\u6cbb\u7597\uff0c\u96be\u6cbb\u6027\u766b\u75eb\u548c\u5148\u5929\u6027\u5fc3\u810f\u75c5\u7684\u5b58\u5728\u6216\u4e25\u91cd\u7a0b\u5ea6\u5728\u5f88\u5927\u7a0b\u5ea6\u4e0a\u5f71\u54cd\u751f\u547d\u9884\u540e\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"c8-2\"><span class=\"ez-toc-section\" id=\"%E5%AF%BF%E5%91%BD%E6%9C%89%E5%A4%9A%E9%95%BF\"><\/span><strong><strong>\u5bff\u547d\u6709\u591a\u957f?<\/strong><\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u76ee\u524d\u6709\u7814\u7a76\u8bc1\u5b9e1p36\u7f3a\u5931\u7efc\u5408\u5f81p36.1\u81f3p36.3\u533a\u57df\u7f3a\u5931\uff0c\u4f46\u7f3a\u5c11\u5305\u542b\u6700\u591a\u9057\u4f20\u4fe1\u606f\u7684p36.3\u533a\u57df\uff0c\u636e\u8bf4\u9884\u540e\u6700\u5dee\u5c31\u662f\u6709\u65e9\u671f\u6b7b\u4ea1\u7684\u53ef\u80fd\u6027\u3002<\/p>\n\n\n\n<p>\u5728\u56fd\u5916\uff0c\u4e5f\u6709\u957f\u5230\u6210\u5e74\u671f\u7684\u6848\u4f8b\uff0c\u4f46\u7531\u4e8e1p36\u7f3a\u5931\u7efc\u5408\u75c7\u662f\u4e00\u79cd\u76f8\u5bf9\u8f83\u65b0\u7684\u75be\u75c5\uff0c\u4e8b\u5b9e\u4e0a\u7f3a\u4e4f\u9884\u6d4b\u5bff\u547d\u7684\u76f8\u5173\u6570\u636e\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"c9\"><span class=\"ez-toc-section\" id=\"1p36%E7%BC%BA%E5%A4%B1%E7%BB%BC%E5%90%88%E7%97%87%E4%BC%9A%E9%81%97%E4%BC%A0%E5%90%97\"><\/span><strong><strong>1p36\u7f3a\u5931\u7efc\u5408\u75c7\u4f1a\u9057\u4f20\u5417?<\/strong><\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u6b63\u5982\u524d\u9762\u63d0\u5230\u7684\uff0c\u5982\u679c\u7236\u6bcd\u6709\u643a\u5e26\u8005\uff0c\u4ed6\u4eec\u53ef\u80fd\u4f1a\u4ece\u7236\u6bcd\u90a3\u91cc\u7ee7\u627f\u6216\u9057\u4f20\u3002<\/p>\n\n\n\n<p>\u5982\u679c\u7236\u6bcd\u4e2d\u7684\u4efb\u4f55\u4e00\u65b9\u5728\u67d3\u8272\u4f53\u4e0a\u5177\u6709\u5e73\u8861\u6613\u4f4d\uff0c\u5b69\u5b50\u53ef\u80fd\u4f1a\u56e0\u4e0d\u5e73\u8861\u6613\u4f4d\u800c\u51fa\u73b01p36\u7f3a\u5931\u7efc\u5408\u75c7\u3002<\/p>\n\n\n\n<p>\u6613\u4f4d\u662f\u6307\u67d3\u8272\u4f53\u7684\u4e24\u4e2a\u90e8\u4f4d\u4ea4\u66ff\uff0c\u5c06\u914d\u7f6e\u4e0d\u540c\u4f46\u9057\u4f20\u4fe1\u606f\u91cf\u4e0d\u53d8\u7684\u6613\u4f4d\u79f0\u4e3a\u5747\u8861\u6613\u4f4d\u3002<\/p>\n\n\n\n<p>\u4e0d\u5e73\u8861\u6613\u4f4d\u4f1a\u5bfc\u81f4\u5404\u79cd\u5f02\u5e38\uff0c\u59821p36\u7f3a\u5931\u7efc\u5408\u75c7\uff0c\u8fd9\u662f\u7531\u4e8e\u4f4d\u7f6e\u4e0d\u540c\u4ee5\u53ca\u9057\u4f20\u4fe1\u606f\u7684\u6570\u91cf\u4e0d\u8db3\u3002<\/p>\n\n\n\n<p>\u4f46\u7531\u4e8e\u5c1a\u672a\u786e\u5b9a\u81f4\u75c5\u57fa\u56e0\uff0c\u4e0d\u6e05\u695a\u662f\u4ec0\u4e48\u6613\u4f4d\u5bfc\u81f41p36\u7f3a\u5931\u7efc\u5408\u75c7\uff0c\u5373\u662f\u5426\u9057\u4f20\u3002<\/p>\n\n\n\n<p>\u6b64\u5916\uff0c\u4e5f\u4e0d\u6e05\u695a\u662f\u5426\u67091p36\u7f3a\u5931\u7efc\u5408\u5f81\u60a3\u8005\u7684\u5b69\u5b50\uff0c\u4ee5\u53ca\u4ed6\u4eec\u662f\u5426\u4f1a\u9057\u4f20\uff0c\u56e0\u4e3a\u4ed6\u4eec\u7684\u6570\u91cf\u53ef\u80fd\u975e\u5e38\u5c0f\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"c10\"><span class=\"ez-toc-section\" id=\"%E9%80%9A%E8%BF%87NIPT%E6%96%B0%E5%9E%8B%E4%BA%A7%E5%89%8D%E8%AF%8A%E6%96%AD%E5%8F%AF%E7%9F%A5%E9%81%93%E7%9A%84%E4%BA%8B\"><\/span><strong><strong>\u901a\u8fc7NIPT(\u65b0\u578b\u4ea7\u524d\u8bca\u65ad)\u53ef\u77e5\u9053\u7684\u4e8b<\/strong><\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u8fd1\u5e74\u6765\uff0c\u63a5\u53d7<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/\">NIPT (\u65b0\u578b\u4ea7\u524d\u8bca\u65ad)<\/a>\u68c0\u67e5\u7684\u4eba\u6570\u6b63\u5728\u589e\u52a0\u3002<\/p>\n\n\n\n<p>\u539f\u56e0\u662f\u665a\u5a5a\u5bfc\u81f4\u7684\u9ad8\u9f84\u598a\u5a20\uff0835\u5c81\u53ca\u4ee5\u4e0a\uff09\u8d8a\u6765\u8d8a\u591a\uff0c\u800c\u57fa\u56e0\u68c0\u6d4b\u53ea\u80fd\u901a\u8fc7\u91c7\u8840\u6765\u8fdb\u884c\uff0c\u800c\u4e0d\u4f1a\u5f71\u54cd\u6bcd\u4eb2\u6216\u8179\u90e8\u7684\u80ce\u513f\u3002<\/p>\n\n\n\n<p>\u9ad8\u9f84\u5206\u5a29\u7684\u8bdd\uff0c\u4ea7\u4e0b\u67d3\u8272\u4f53\u5f02\u5e38\u7684\u5a74\u513f\u7684\u53ef\u80fd\u6027\u4f1a\u53d8\u9ad8\u3002<\/p>\n\n\n\n<p>\u8bf4\u5230\u67d3\u8272\u4f53\u5f02\u5e38\uff0c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-down-syndrome\/?lang=zh-hans\">\u5510\u6c0f\u7efc\u5408\u75c7<\/a>\u5f88\u6709\u540d\u3002<\/p>\n\n\n\n<p>\u572820\u5c81\u5206\u5a29\u65f6\uff0c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-down-syndrome\/?lang=zh-hans\">\u5510\u6c0f\u7efc\u5408\u75c7<\/a>\u7684\u5b69\u5b50\u7684\u51fa\u751f\u9891\u7387\u4e3a1\/1667,\u572835\u5c81\u65f6\u4e3a1\/385,\u572845\u5c81\u65f6\u4e3a1\/30,\u5e76\u4e14\u968f\u7740\u5e74\u9f84\u7684\u589e\u957f\u800c\u589e\u52a0\u3002<\/p>\n\n\n\n<p>\u4e0e\u6b64\u76f8\u6bd4\uff0c\u6709\u67d0\u79cd\u67d3\u8272\u4f53\u5f02\u5e38\u7684\u5b69\u5b50\u7684\u51fa\u751f\u7387\u662f\u600e\u4e48\u6837\u5462?<\/p>\n\n\n\n<p>20\u5c81\u4e3a1\/526\u300135\u5c81\u4e3a1\/192\u300145\u5c81\u4e3a1\/21,\u9891\u7387\u66f4\u9ad8\u3002<\/p>\n\n\n\n<p>\u8be5\u6570\u636e\u6765\u81ea 1980 \u5e74\u4ee3\u521d\u671f\uff0c\u7531\u4e8e\u6d4b\u8bd5\u65b9\u6cd5\uff08FISH \u6cd5\u3001\u5fae\u9635\u5217\u6cd5\uff09\u662f\u5728 1980 \u5e74\u4e0b\u534a\u5e74\u4e4b\u540e\u901a\u8fc7\u666e\u901a\u6d4b\u8bd5\u5f00\u53d1\u7684\uff0c\u56e0\u6b64\u5f88\u96be\u53d1\u73b0 <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/1p-36-deletion-syndrome\/\">1p36<\/a> \u7f3a\u4e4f\u7efc\u5408\u75c7\u7b49\u5fae\u7f3a\u9677\u7efc\u5408\u75c7\u3002\u636e\u9884\u6d4b\uff0c\u73b0\u5728\u67d3\u8272\u4f53\u5f02\u5e38\u513f\u7ae5\u7684\u51fa\u751f\u9891\u7387\u8981\u9ad8\u4e00\u4e9b\u3002<\/p>\n\n\n\n<p>1p36\u7f3a\u5931\u7efc\u5408\u75c7\u662f\u7531\u7279\u5b9a\u533a\u57df\u7f3a\u5931\u5f15\u8d77\u7684\uff0c\u5982\u524d\u6240\u8ff0\uff0c\u7531\u4e8e\u8fd9\u4e9b\u533a\u57df\u662f\u7279\u5b9a\u7684\uff0c\u56e0\u6b64<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/\">NIPT (\u65b0\u578b\u4ea7\u524d\u8bca\u65ad)<\/a>&nbsp;\u53ef\u5728\u4ea7\u524d\u68c0\u6d4b\u7f79\u60a31p36\u7f3a\u5931\u7efc\u5408\u75c7\u7684\u53ef\u80fd\u6027\u3002<\/p>\n\n\n\n<p>\u76ee\u524d\uff0c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/\">NIPT (\u65b0\u578b\u4ea7\u524d\u8bca\u65ad)<\/a>\u9488\u5bf9<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-down-syndrome\/?lang=zh-hans\">\u5510\u6c0f\u7efc\u5408\u75c7<\/a>\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/edwards-syndrome\/\">\u7231\u5fb7\u534e\u5179\u7efc\u5408\u75c7<\/a>\u548c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/patau-syndrome\/\">\u5e15\u9676\u7efc\u5408\u75c7<\/a>\uff0c\u8fd9\u4e09\u79cd\u75be\u75c5\u53ef\u5728\u83b7\u5f97\u8ba4\u8bc1\u8bbe\u65bd\u8fdb\u884c\u68c0\u67e5\u3002<\/p>\n\n\n\n<p>\u800c1p26\u7f3a\u5931\u7efc\u5408\u75c7\u7b49\u5730\u5fae\u7f3a\u5931\u7efc\u5408\u75c7\u4e0d\u5305\u62ec\u5728\u5185\u3002<\/p>\n\n\n\n<p id=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/1p-36-deletion-syndrome\/?lang=zh-hans\">\u7136\u800c\uff0c\u6709\u4e00\u4e9b\u975e\u8ba4\u8bc1\u8bbe\u65bd\u5c06\u5fae\u7f3a\u5931\u68c0\u67e5\u7eb3\u5165NIPT\u65b9\u6848\u5185\u3002\u56e0\u6b64\u4ed6\u4eec\u4f1a\u5728\u80ce\u513f\u51fa\u751f\u524d\u4e86\u89e3\u662f\u5426\u5b58\u57281p36\u7f3a\u5931\u7efc\u5408\u75c7\u7684\u53ef\u80fd\u6027\u3002\u7531\u4e8eNIPT\u4e0d\u662f\u786e\u5b9a\u6027\u8bca\u65ad\uff0c\u56e0\u6b64\u9700\u8981\u7f8a\u6c34\u68c0\u67e5\u6765\u8bca\u65ad1p36\u7f3a\u5931\u7efc\u5408\u75c7\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=\"c11\"><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>\u5728\u672c\u6587\u4e2d\uff0c\u6211\u4eec\u8be6\u7ec6\u4ecb\u7ecd\u4e86\u6709\u51731p36\u7f3a\u5931\u7efc\u5408\u75c7\u7684\u6bcf\u4e2a\u9879\u76ee\u3002<\/p>\n\n\n\n<p>\u622a\u81f32021\u5e74\uff0c1p36\u7f3a\u5931\u7efc\u5408\u75c7\u5c1a\u672a\u786e\u5b9a\u57fa\u672c\u6cbb\u7597\u7684\u65b9\u6cd5\uff0c\u4f46\u901a\u8fc7<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/\">NIPT(\u65b0\u578b\u4ea7\u524d\u8bca\u65ad)<\/a>\u53ef\u4ee5\u53ca\u65e9\u53d1\u73b0\u5e76\u5e94\u5bf9\u3002\u4f46\u662f\u786e\u5b9a\u7684\u8bca\u65ad\u8fd8\u9700\u901a\u8fc7\u7f8a\u6c34\u68c0\u67e5\u3002<\/p>\n\n\n\n<p>\u53e6\u4e00\u65b9\u9762\uff0c\u81f4\u75c5\u57fa\u56e0\u548c\u533a\u57df\u7684\u9274\u5b9a\u548c\u5b9a\u4f4d\uff0c\u4ee5\u53ca\u672a\u6765\u81f4\u75c5\u6613\u4f4d\u7684\u9274\u5b9a\u88ab\u8ba4\u4e3a\u5bf9\u672a\u6765\u7684\u6cbb\u7597\u8ba1\u5212\u6709\u7528\uff0c\u672a\u6765\u7684\u7814\u7a76\u548c\u5f00\u53d1\u6709\u671b\u5f97\u5230\u53d1\u5c55\u3002<\/p>\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>MedicineNet &#8211;&nbsp;<a rel=\"noreferrer noopener\" href=\"https:\/\/www.medicinenet.com\/1p36_deletion_syndrome\/article.htm#what_is_the_prognosis_and_life_expectancy_for_1p36_deletion_syndrome\" target=\"_blank\">1p36 Deletion Syndrome Life Expectancy, Cause, Symptoms &amp; Signs<\/a><\/li>\n\n\n\n<li>\u7591\u96be\u75c5\u75c7\u4fe1\u606f\u4e2d\u5fc3 &#8211;&nbsp;<a rel=\"noreferrer noopener\" href=\"https:\/\/www.nanbyou.or.jp\/entry\/4497\" target=\"_blank\">1p36\u7f3a\u5931\u7efc\u5408\u75c7 (\u96be\u6cbb\u6027\u75be\u75c5197)<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/1p-36-deletion-syndrome\/\">1p36<\/a> deletion support\uff06awareness &#8211;&nbsp;<a rel=\"noreferrer noopener\" href=\"http:\/\/www.1p36dsa.org\/what-is-1p36-deletion-syndrome\/\" target=\"_blank\">What is 1p36 Deletion Syndrome?<\/a><\/li>\n\n\n\n<li>\u533b\u7597\u7b14\u8bb0 &#8211;&nbsp;<a href=\"https:\/\/medicalnote.jp\/diseases\/1p36%E6%AC%A0%E5%A4%B1%E7%97%87%E5%80%99%E7%BE%A4?utm_campaign=1p36%E6%AC%A0%E5%A4%B1%E7%97%87%E5%80%99%E7%BE%A4_%E6%A6%82%E8%A6%81&amp;utm_medium=ydd&amp;utm_source=yahoo#%E6%A6%82%E8%A6%81\">1p36\u7f3a\u5931\u7efc\u5408\u75c7<\/a><\/li>\n\n\n\n<li>Taylor &amp; Francis online-&nbsp;<a rel=\"noreferrer noopener\" href=\"https:\/\/www.tandfonline.com\/doi\/abs\/10.1080\/14767058.2019.1660764\" target=\"_blank\">Prenatal detection of 1p36 deletion syndrome: ultrasound findings and microarray testing results<\/a><\/li>\n\n\n\n<li>PMC &#8211;&nbsp;<a rel=\"noreferrer noopener\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC4555966\/\" target=\"_blank\">1p36 deletion syndrome: an update<\/a><\/li>\n\n\n\n<li>Annals Child Neurology &#8211;&nbsp;<a rel=\"noreferrer noopener\" href=\"https:\/\/pdfs.semanticscholar.org\/782f\/3125eaceaf877474f8eccb96c69b8a1a57b4.pdf\" target=\"_blank\">Deep Phenotyping in 1p36 Deletion Syndrome<\/a><\/li>\n<\/ul>\n<\/div><\/div>\n\n\n\n<p><\/p>\n","protected":false},"excerpt":{"rendered":"\u4ec0\u4e48\u662f1p36\u7f3a\u5931\u7efc\u5408\u75c7? \u4ec0\u4e48\u662f\u67d3\u8272\u4f53&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/1p-36-deletion-syndrome\/?lang=zh-hans\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":13,"featured_media":23039,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[244],"tags":[326,318,334,323,332,328,221],"class_list":["post-23811","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-genetic-disorder","tag-326","tag-nipt","tag-334","tag-323","tag-332","tag-328","tag-pregnancy"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/23811","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=23811"}],"version-history":[{"count":5,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/23811\/revisions"}],"predecessor-version":[{"id":84077,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/23811\/revisions\/84077"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/23039"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=23811"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=23811"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=23811"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}