{"id":52143,"date":"2023-01-27T17:09:55","date_gmt":"2023-01-27T08:09:55","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/smith-maginnis-syndrome\/"},"modified":"2025-10-16T11:55:53","modified_gmt":"2025-10-16T02:55:53","slug":"smith-maginnis-syndrome","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/smith-maginnis-syndrome\/?lang=zh-hans","title":{"rendered":"\u4ec0\u4e48\u662f\u53f2\u5bc6\u65af-\u9a6c\u91d1\u5c3c\u65af\u7efc\u5408\u75c7(Smith-Magenis Syndrome)\u3010\u533b\u751f\u76d1\u4fee\u3011"},"content":{"rendered":"\n<div class=\"toc\">\n\t<ul>\n\t\t<li><a href=\"#c1\">\u4ec0\u4e48\u662f\u53f2\u5bc6\u65af-\u9a6c\u91d1\u5c3c\u65af\u7efc\u5408\u75c7<\/a><\/li>\n\t\t<li><a href=\"#c2\">\u4ec0\u4e48\u65f6\u5019\u77e5\u9053\u60a3\u6709\u53f2\u5bc6\u65af-\u9a6c\u91d1\u5c3c\u65af\u7efc\u5408\u75c7\uff1f<\/a><\/li>\n\t\t<li><a href=\"#c3\">\u53f2\u5bc6\u65af-\u9a6c\u91d1\u5c3c\u65af\u7efc\u5408\u75c7\u7684\u75c5\u56e0<\/a><\/li>\n\t\t<li><a href=\"#c4\">\u53f2\u5bc6\u65af-\u9a6c\u91d1\u5c3c\u65af\u7efc\u5408\u75c7\u7684\u75c7\u72b6\u548c\u7279\u70b9<\/a>\n\t\t\t<ul>\n\t\t\t\t<li><a href=\"#c4-1\">\u4e3b\u8981\u75c7\u72b6<\/a>\n\t\t\t\t\t<ul>\n\t\t\t\t\t\t<li><a href=\"#c4-1-1\">\u8eab\u4f53\u7279\u5f81<\/a>\n\t\t\t\t\t\t\t<ul>\n\t\t\t\t\t\t\t\t<li><a href=\"#c4-1-1-1\">\u72ec\u7279\u7684\u9762\u90e8\u7279\u5f81<\/a><\/li>\n\t\t\t\t\t\t\t<\/ul>\n\t\t\t\t\t\t<\/li>\n\t\t\t\t\t\t<li><a href=\"#c4-1-2\">\u884c\u4e3a\u4e0a\u7684\u7279\u5f81<\/a><\/li>\n\t\t\t\t\t\t<li><a href=\"#c4-1-3\">\u667a\u529b\u969c\u788d<\/a><\/li>\n\t\t\t\t\t<\/ul>\n\t\t\t\t<\/li>\n\t\t\t\t<li><a href=\"#c4-2\">\u4e3b\u8981\u5e76\u53d1\u75c7<\/a><\/li>\n\t\t\t<\/ul>\n\t\t<\/li>\n\t\t<li><a href=\"#c5\">\u53f2\u5bc6\u65af-\u9a6c\u91d1\u5c3c\u65af\u7efc\u5408\u75c7\u7684\u8bca\u65ad<\/a>\n\t\t\t<ul>\n\t\t\t\t<li><a href=\"#c5-1\">Hiro\u8bca\u6240NIPT\u8c03\u67e5\u7684\u300c\u5fae\u7f3a\u5931\u7efc\u5408\u75c7\u300d\u4e4b\u4e00<\/a><\/li>\n\t\t\t<\/ul>\n\t\t<\/li>\n\t\t<li><a href=\"#c6\">\u53f2\u5bc6\u65af-\u9a6c\u91d1\u5c3c\u65af\u7efc\u5408\u75c7\u7684\u6cbb\u7597<\/a><\/li>\n\t\t<li><a href=\"#c7\">\u53f2\u5bc6\u65af-\u9a6c\u91d1\u5c3c\u65af\u7efc\u5408\u75c7\u7684\u9884\u540e\u548c\u9884\u671f\u5bff\u547d<\/a><\/li>\n\t\t<li><a href=\"#c8\">\u6982\u62ec<\/a><\/li>\n\t<\/a><\/ul><a href=\"#c8\">\n<\/a><\/div>\n\n\n\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_83 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">\u76ee\u6b21<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/smith-maginnis-syndrome\/?lang=zh-hans\/#%E5%8F%B2%E5%AF%86%E6%96%AF-%E9%A9%AC%E9%87%91%E5%B0%BC%E6%96%AF%E7%BB%BC%E5%90%88%E7%97%87%E7%9A%84%E9%A2%84%E5%90%8E%E5%92%8C%E9%A2%84%E6%9C%9F%E5%AF%BF%E5%91%BD\" >\u53f2\u5bc6\u65af-\u9a6c\u91d1\u5c3c\u65af\u7efc\u5408\u75c7\u7684\u9884\u540e\u548c\u9884\u671f\u5bff\u547d<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/smith-maginnis-syndrome\/?lang=zh-hans\/#%E6%A6%82%E6%8B%AC\" >\u6982\u62ec<\/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%E5%8F%B2%E5%AF%86%E6%96%AF-%E9%A9%AC%E9%87%91%E5%B0%BC%E6%96%AF%E7%BB%BC%E5%90%88%E7%97%87\"><\/span><strong>\u4ec0\u4e48\u662f\u53f2\u5bc6\u65af-\u9a6c\u91d1\u5c3c\u65af\u7efc\u5408\u75c7<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u53f2\u5bc6\u65af-\u9a6c\u91d1\u5c3c\u65af\u7efc\u5408\u75c7(Smith-Magenis Syndrome\u3001\u53f2\u5bc6\u65af-\u9a6c\u91d1\u5c3c\u65af\u7efc\u5408\u75c7)\uff0c\u662f\u4e00\u79cd\u7531\u4f4d\u4e8e17\u53f7\u67d3\u8272\u4f5317p11.2\u4f4d\u7f6e\u7684\u89c6\u9ec4\u9178\u8bf1\u5bfc\u57fa\u56e01\uff08RAI1\uff09\u5f02\u5e38\u5f15\u8d77\u7684\u75be\u75c5\u3002\u57fa\u56e0\u7684\u7f3a\u5931\uff08\u57fa\u56e0\u5728\u4e2d\u95f4\u88ab\u5207\u65ad\uff09\u6216\u5bfc\u81f4\u57fa\u56e0\u6392\u5217\u4e0d\u540c\u7684\u7a81\u53d8\uff0c\u5bfc\u81f4RAI1\u57fa\u56e0\u4e0d\u80fd\u6b63\u5e38\u5de5\u4f5c\uff0c\u5bfc\u81f4\u5404\u79cd\u75c7\u72b6\u53d1\u751f\u5728\u5168\u8eab\u3002<\/p>\n\n\n\n<p>\u5916\u90e8\u7279\u75c7\u5305\u62ec\uff0c\u77ed\u5934\u3001\u524d\u989d\u7a81\u51fa\u3001\u7709\u6bdb\u878d\u5408\u3001\u4e0b\u5df4\u7a81\u51fa\u548c\u624b\u6307\u77ed\uff0c\u800c\u75c7\u72b6\u5305\u62ec\u7761\u7720\u5468\u671f\u7d0a\u4e71\u3001\u81ea\u4f24\u884c\u4e3a\u548c\u667a\u529b\u969c\u788d\u3002\u5927\u591a\u6570\u60a3\u8005\u8fd8\u5b58\u5728\u8bed\u8a00\u53d1\u80b2\u8fdf\u7f13\u548c\u5fc3\u810f\u75be\u75c5\u3002<\/p>\n\n\n\n<p>\u53f2\u5bc6\u65af-\u9a6c\u91d1\u5c3c\u65af\u7efc\u5408\u75c7\u7684\u53d1\u75c5\u7387\u88ab\u8ba4\u4e3a\u662f15,000-25,000\u4eba\u4e2d\u6709\u4e00\u4e2a\uff0c\u662f\u4e00\u79cd\u76f8\u5bf9\u7f55\u89c1\u7684\u75be\u75c5\uff0c\u5728\u65e5\u672c\u4f30\u8ba1\u670930-50\u4e2a\u75c5\u4eba\u3002\u5728\u65e5\u672c\uff0c\u5b83\u662f\u4e00\u79cd\u6307\u5b9a\u7684\u96be\u6cbb\u6027\u75be\u75c5\u548c\u6162\u6027\u513f\u79d1\u75be\u75c5\u3002<\/p>\n\n\n\n<div class=\"wp-block-image\"><figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"600\" height=\"400\" src=\"\/nipt\/wp-content\/uploads\/2023\/01\/smith-maginnis-syndrome02.jpg\" alt=\"\u30b9\u30df\u30b9\u30fb\u30de\u30ae\u30cb\u30b9\u75c7\u5019\u7fa4\u306f\u3069\u3093\u306a\u75c5\u6c17\uff1f\" class=\"wp-image-50972\"\/><\/figure><\/div>\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%E7%9F%A5%E9%81%93%E6%82%A3%E6%9C%89%E5%8F%B2%E5%AF%86%E6%96%AF-%E9%A9%AC%E9%87%91%E5%B0%BC%E6%96%AF%E7%BB%BC%E5%90%88%E7%97%87%EF%BC%9F\"><\/span><strong>\u4ec0\u4e48\u65f6\u5019\u77e5\u9053\u60a3\u6709\u53f2\u5bc6\u65af-\u9a6c\u91d1\u5c3c\u65af\u7efc\u5408\u75c7\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u53f2\u5bc6\u65af-\u9a6c\u91d1\u5c3c\u65af\u7efc\u5408\u75c7\uff0c\u901a\u8fc7<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/?lang=zh-hans\">NIPT(\u65b0\u578b\u4ea7\u524d\u8bca\u65ad)<\/a>\uff0c\u53ef\u4ee5\u5728\u6000\u5b5510\u5468\u65f6\u786e\u5b9a\u662f\u5426\u60a3\u6709\u3002\u4f46\u662f\uff0c\u5e76\u4e0d\u662f\u6240\u6709\u7684NIPT\u4e2d\u5fc3\u90fd\u63d0\u4f9b\u8fd9\u79cd\u68c0\u67e5\u3002\u6b64\u5916\uff0c\u660e\u786e\u7684\u8bca\u65ad\u9700\u8981\u8fdb\u884c\u7f8a\u6c34\u68c0\u6d4b\u548c\u4ea7\u540e\u57fa\u56e0\u68c0\u6d4b\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/nipt\/nipt\/?lang=zh-hans\" 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=\"%E5%8F%B2%E5%AF%86%E6%96%AF-%E9%A9%AC%E9%87%91%E5%B0%BC%E6%96%AF%E7%BB%BC%E5%90%88%E7%97%87%E7%9A%84%E7%97%85%E5%9B%A0\"><\/span><strong>\u53f2\u5bc6\u65af-\u9a6c\u91d1\u5c3c\u65af\u7efc\u5408\u75c7\u7684\u75c5\u56e0<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u53f2\u5bc6\u65af-\u9a6c\u91d1\u5c3c\u65af\u7efc\u5408\u75c7\u662f\u753117\u53f7\u67d3\u8272\u4f53\u77ed\u81c2\uff08\u77ed\u81c2\uff08p\uff09\uff09\u79f0\u4e3a17p11.2\u7684\u90e8\u5206\u7f3a\u5931\uff08\u9057\u4f20\u5b66\u672f\u8bed\u4e3a\u300c\u5fae\u7f3a\u5931\u300d\uff09\u6216\u4e0d\u540c\u7684\u57fa\u56e0\u5e8f\u5217\uff08\u9057\u4f20\u5b66\u672f\u8bed\u4e3a\u300c\u53d8\u5f02\u300d\uff09\u5f15\u8d77\u7684\u3002\u5728\u8fd9\u4e2a\u4f4d\u7f6e\u6709\u4e00\u4e2a\u53eb\u505a\u89c6\u9ec4\u9178\u8bf1\u5bfc\u57fa\u56e01\uff08RAI1\uff09\u7684\u57fa\u56e0\uff0c\u67d3\u8272\u4f53\u5f02\u5e38\u5bfc\u81f4RAI1\u57fa\u56e0\u7684\u529f\u80fd\u964d\u4f4e\u3002<\/p>\n\n\n\n<p>\u4eba\u7c7b\u7684\u6bcf\u4e2a\u57fa\u56e0\u90fd\u662f\u6210\u5bf9\u51fa\u73b0\u7684\uff0c\u6240\u4ee5\u5982\u679c\u4e00\u4e2a\u57fa\u56e0\u5f02\u5e38\uff0c\u53e6\u4e00\u4e2a\u6b63\u5e38\u7684\u57fa\u56e0\u5c31\u4f1a\u8865\u507f\u5176\u529f\u80fd\uff0c\u6574\u4f53\u529f\u80fd\u662f\u8db3\u591f\u7684\uff0c\u53ef\u80fd\u4e0d\u4f1a\u8868\u73b0\u4e3a\u75c7\u72b6\u3002\u4f46\u662f\uff0c\u5728RAI1\u57fa\u56e0\u7684\u60c5\u51b5\u4e0b\uff0c\u6709\u4e00\u4e2a\u57fa\u56e0\u662f\u5f02\u5e38\u7684\uff0c\u5982\u679c\u4e00\u4e2a\u6b63\u5e38\u7684\u57fa\u56e0\u53d8\u5f97\u5f02\u5e38\uff0c\u5b83\u5c31\u4e0d\u80fd\u6b63\u5e38\u8fd0\u4f5c\uff0c\u75c7\u72b6\u5c31\u4f1a\u51fa\u73b0\u3002\u8fd9\u5728\u9057\u4f20\u5b66\u672f\u8bed\u4e2d\u88ab\u79f0\u4e3a\u300c\u5355\u500d\u4f53\u529f\u80fd\u4e0d\u8db3\u300d\u3002<\/p>\n\n\n\n<p>RAI1\u57fa\u56e0\u6709\u80fd\u529b\u8c03\u8282\u5176\u4ed6\u57fa\u56e0\u7684\u8868\u8fbe\uff08\u6d3b\u52a8\uff09\uff0c\u7279\u522b\u662f\u90a3\u4e9b\u53c2\u4e0e\u65e5\u5e38\u8eab\u4f53\u8282\u5f8b\u7684\u57fa\u56e0\uff0c\u5982\u7761\u7720\u548c\u89c9\u9192\uff08\u663c\u591c\u8282\u5f8b\uff09\u3002 \u8fd9\u88ab\u8ba4\u4e3a\u662f\u9020\u6210\u7761\u7720\u969c\u788d\u7684\u539f\u56e0\uff0c\u800c\u7761\u7720\u969c\u788d\u662f\u8be5\u75c5\u7684\u4e00\u4e2a\u7279\u75c7\u6027\u75c7\u72b6\u3002RAI1\u4e5f\u88ab\u8ba4\u4e3a\u53c2\u4e0e\u4e86\u5927\u8111\u3001\u5934\u90e8\u548c\u9762\u90e8\u9aa8\u9abc\u53d1\u80b2\u7684\u5176\u4ed6\u65b9\u9762\uff0c\u5c3d\u7ba1\u5176\u529f\u80fd\u5728\u5f88\u5927\u7a0b\u5ea6\u4e0a\u4ecd\u4e0d\u6e05\u695a\u3002<\/p>\n\n\n\n<p>\u8fd9\u4e9b\u67d3\u8272\u4f53\u5f02\u5e38\uff0c\u51e0\u4e4e\u603b\u662f\u7531\u4e8e\u7a81\u53d8\u9020\u6210\u7684\uff0c\u6240\u4ee5\u8fd9\u79cd\u60c5\u51b5\u4ece\u7236\u6bcd\u9057\u4f20\u7ed9\u5b50\u5973\u6216\u5728\u5bb6\u65cf\u5185\u53f2\u5bc6\u65af-\u9a6c\u91d1\u5c3c\u65af\u7efc\u5408\u75c7\u975e\u5e38\u7f55\u89c1\u3002\u7136\u800c\uff0c\u4e5f\u6709\u62a5\u544a\u8bf4\u8fd9\u79cd\u60c5\u51b5\u662f\u7531\u7236\u6bcd\u53cc\u65b9\u7684\u57fa\u56e0\u5f02\u5e38\u5f15\u8d77\u7684\uff0c\u6240\u4ee5\u8fd9\u79cd\u53ef\u80fd\u6027\u4e0d\u662f\u96f6\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/nipt\/gene\/?lang=zh-hans\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u67d3\u8272\u4f53\u3084\u907a\u4f1d\u5b50\u3068\u306f\uff1fNIPT(\u65b0\u578b\u51fa\u751f\u524d\u8a3a\u65ad)\u3092\u6d3b\u7528\u3059\u308c\u3070\u3001\u907a\u4f1d\u5b50\u30ec\u30d9\u30eb\u3067\u80ce\u5150\u306e\u72b6\u614b\u304c\u308f\u304b\u308b\u3010\u533b\u5e2b\u76e3\u4fee\u3011 <\/div>\n          <div class=\"blog-card-excerpt\">\u3053\u306e\u8a18\u4e8b\u3067\u306f\u30d2\u30c8\u3092\u5f62\u4f5c\u308b\u67d3\u8272\u4f53\u3084\u907a\u4f1d\u5b50\u306a\u3069\u306b\u3064\u3044\u3066\u3092\u89e3\u8aac\u3057\u3066\u3044\u304d\u307e\u3059\u3002NIPT\uff08\u65b0\u578b\u51fa\u751f\u524d\u8a3a\u65ad\uff09\u306b\u3064\u3044\u3066\u3082\u89e6\u308c\u3066\u304a\u308a\u3001\u3053\u308c\u3092\u6d3b\u7528\u3059\u308b\u3053\u3068\u3067\u80ce...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"c4\"><span class=\"ez-toc-section\" id=\"%E5%8F%B2%E5%AF%86%E6%96%AF-%E9%A9%AC%E9%87%91%E5%B0%BC%E6%96%AF%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>\u53f2\u5bc6\u65af-\u9a6c\u91d1\u5c3c\u65af\u7efc\u5408\u75c7\u7684\u75c7\u72b6\u548c\u7279\u70b9<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"c4-1\"><span class=\"ez-toc-section\" id=\"%E4%B8%BB%E8%A6%81%E7%97%87%E7%8A%B6\"><\/span><strong>\u4e3b\u8981\u75c7\u72b6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u53f2\u5bc6\u65af-\u9a6c\u91d1\u5c3c\u65af\u7efc\u5408\u75c7\u53ef\u4ee5\u8868\u73b0\u4e3a\u5404\u79cd\u75c7\u72b6\u3002 \u75c7\u72b6\u53ef\u5927\u81f4\u5206\u4e3a\u8eab\u4f53\u7279\u5f81\u3001\u884c\u4e3a\u7279\u5f81\u548c\u667a\u529b\u969c\u788d\u3002<\/p>\n\n\n\n<h4 class=\"wp-block-heading\" id=\"c4-1-1\">\u8eab\u4f53\u7279\u5f81<\/h4>\n\n\n\n<h5 class=\"wp-block-heading\" id=\"c4-1-1-1\"><strong>\u72ec\u7279\u7684\u9762\u90e8\u7279\u5f81<\/strong><\/h5>\n\n\n\n<p>\u53f2\u5bc6\u65af-\u9a6c\u91d1\u5c3c\u65af\u7efc\u5408\u75c7\uff0c\u6709\u4ee5\u4e0b\u9762\u90e8\uff08\u989c\u9762\uff09\u7279\u75c7\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\"><li>\u5934\u90e8\u77ed\u5c0f<\/li><li>\u989d\u5934\u7a81\u51fa<\/li><li>\u7a81\u51fa\u7684\u4e0b\u988c\u9aa8<\/li><li>\u7709\u6bdb\u76f8\u8fde<\/li><li>\u8033\u6735\u4f4d\u7f6e\u8f83\u4f4e<\/li><li>\u773c\u775b\u6df1\u6df1\u5730\u51f9\u9677<\/li><\/ul>\n\n\n\n<p>\u8fd9\u4e9b\u9762\u90e8\u7279\u75c7\u5728\u5a74\u513f\u671f\u4e0d\u592a\u660e\u663e\uff0c\u4f46\u968f\u7740\u5b69\u5b50\u7684\u6210\u957f\u548c\u6210\u719f\uff0c\u9010\u6e10\u53d8\u5f97\u66f4\u52a0\u660e\u663e\u3002<\/p>\n\n\n\n<p>\u53e6\u5916\uff0c\u5a74\u513f\u671f\u808c\u8089\u5f20\u529b\u964d\u4f4e\uff0c\u624b\u53c8\u77ed\u53c8\u5927\uff0c\u4e5f\u662f\u53f2\u5bc6\u65af-\u9a6c\u91d1\u5c3c\u65af\u7efc\u5408\u75c7\u7684\u8eab\u4f53\u7279\u5f81\u3002<\/p>\n\n\n\n<h4 class=\"wp-block-heading\" id=\"c4-1-2\"><strong>\u884c\u4e3a\u4e0a\u7684\u7279\u5f81<\/strong><\/h4>\n\n\n\n<p>\u884c\u4e3a\u75c7\u72b6\u4e5f\u662f\u53f2\u5bc6\u65af-\u9a6c\u91d1\u5c3c\u65af\u7efc\u5408\u75c7\u7684\u4e3b\u8981\u8868\u73b0\uff0c\u5177\u4f53\u6765\u8bf4\uff0c\u6709\u4ee5\u4e0b\u75c7\u72b6\u88ab\u8ba4\u53ef\u3002\u8fd9\u4e9b\u884c\u4e3a\u75c7\u72b6\u5728\u5a74\u513f\u671f\u4e5f\u4e0d\u660e\u663e\uff0c\u4f46\u5728\u513f\u7ae5\u65e9\u671f\u5f00\u59cb\u51fa\u73b0\u75c7\u72b6\uff0c\u5e76\u968f\u7740\u513f\u7ae5\u7684\u6210\u957f\u800c\u6539\u53d8\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\"><li>\u8fc7\u7720\u75c7\u548c\u4e0d\u7720\u75c7\u7b49\u7761\u7720\u969c\u788d<\/li><li>\u60c5\u7eea\u6ce2\u52a8<\/li><li>\u591a\u52a8\u6027\u548c\u51b2\u52a8\u6027<\/li><li>\u7126\u8651\u75c7<\/li><li>\u81ea\u4f24\u884c\u4e3a(\u5982\u649e\u5934\u3001\u6390\u76ae\u80a4\u7b49)<\/li><li>\u6210\u763e\u884c\u4e3a(\u5982\u62e5\u62b1\u81ea\u5df1\u3001\u8214\u624b\u548c\u7ffb\u4e66\u7b49)<\/li><\/ul>\n\n\n\n<h4 class=\"wp-block-heading\" id=\"c4-1-3\"><strong>\u667a\u529b\u969c\u788d<\/strong><\/h4>\n\n\n\n<p>\u5927\u591a\u6570\u60a3\u8005\u51fa\u73b0\u667a\u529b\u548c\u53d1\u80b2\u969c\u788d\uff0c\u5305\u62ec\u8bed\u8a00\u6280\u80fd\u7684\u53d1\u80b2\u8fdf\u7f13\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"c4-2\"><span class=\"ez-toc-section\" id=\"%E4%B8%BB%E8%A6%81%E5%B9%B6%E5%8F%91%E7%97%87\"><\/span><strong>\u4e3b\u8981\u5e76\u53d1\u75c7<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u9664\u4e86\u4e0a\u8ff0\u7684\u8eab\u4f53\u548c\u884c\u4e3a\u7279\u5f81\u5916\uff0c\u8fd8\u53ef\u80fd\u51fa\u73b0\u5404\u79cd\u5668\u5b98\u7684\u5e76\u53d1\u75c7\u3002 \u6700\u5e38\u89c1\u7684\u5e76\u53d1\u75c7\u662f<\/p>\n\n\n\n<ul class=\"wp-block-list\"><li>\u542c\u529b\u969c\u788d\u548c\u4e2d\u8033\u708e\u7b49\u8033\u9f3b\u79d1\u5f02\u5e38<\/li><li>\u659c\u89c6\u7b49\u773c\u79d1\u5f02\u5e38<\/li><li>\u5148\u5929\u6027\u5fc3\u810f\u75c5<\/li><li>\u8eab\u6750\u77ee\u5c0f<\/li><li>\u810a\u67f1\u4fa7\u5f2f<\/li><li>\u5185\u5206\u6ccc\u969c\u788d<\/li><li>\u80be\u810f\u7578\u5f62<\/li><li>\u8111\u90e8\u7578\u5f62<\/li><\/ul>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"c5\"><span class=\"ez-toc-section\" id=\"%E5%8F%B2%E5%AF%86%E6%96%AF-%E9%A9%AC%E9%87%91%E5%B0%BC%E6%96%AF%E7%BB%BC%E5%90%88%E7%97%87%E7%9A%84%E8%AF%8A%E6%96%AD\"><\/span><strong>\u53f2\u5bc6\u65af-\u9a6c\u91d1\u5c3c\u65af\u7efc\u5408\u75c7\u7684\u8bca\u65ad<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u53f2\u5bc6\u65af-\u9a6c\u91d1\u5c3c\u65af\u7efc\u5408\u75c7\u662f\uff0c\u5f53\u4ea7\u540e\u75c7\u72b6\u548c\u57fa\u56e0\u5b66\u68c0\u6d4b\u663e\u793a\uff0c\u5305\u62ecRAI1\u57fa\u56e017\u53f7\u67d3\u8272\u4f53\u4e0a\u6709\u4e00\u4e2a\u5c0f\u7684\u7f3a\u5931\u6216\u7a81\u53d8\u65f6\uff0c\u8bca\u65ad\u4e00\u822c\u5c31\u88ab\u786e\u8ba4\u4e86\u3002<\/p>\n\n\n\n<div class=\"wp-block-image\"><figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"600\" height=\"400\" src=\"\/nipt\/wp-content\/uploads\/2023\/01\/smith-maginnis-syndrome01.jpg\" alt=\"\u30b9\u30df\u30b9\u30fb\u30de\u30ae\u30cb\u30b9\u75c7\u5019\u7fa4\u306e\u8a3a\u65ad\" class=\"wp-image-50974\"\/><\/figure><\/div>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"c5-1\"><span class=\"ez-toc-section\" id=\"Hiro%E8%AF%8A%E6%89%80NIPT%E8%B0%83%E6%9F%A5%E7%9A%84%E3%80%8C%E5%BE%AE%E7%BC%BA%E5%A4%B1%E7%BB%BC%E5%90%88%E7%97%87%E3%80%8D%E4%B9%8B%E4%B8%80\"><\/span><strong>Hiro\u8bca\u6240NIPT\u8c03\u67e5\u7684\u300c\u5fae\u7f3a\u5931\u7efc\u5408\u75c7\u300d\u4e4b\u4e00<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u57fa\u56e0\u68c0\u6d4b\u6280\u672f\u7684\u6700\u65b0\u8fdb\u5c55\uff0c\u4f7f\u5f97\u5728\u6000\u5b55\u671f\u95f4\u4f7f\u7528\u4e00\u79cd\u88ab\u79f0\u4e3a<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/?lang=zh-hans\">NIPT(\u65b0\u578b\u4ea7\u524d\u8bca\u65ad)<\/a>\u7684\u68c0\u6d4b\u65b9\u6cd5\u6765\u786e\u5b9a\u662f\u5426\u5b58\u5728\u9057\u4f20\u6027\u75be\u75c5\u6210\u4e3a\u53ef\u80fd\u3002\u53f2\u5bc6\u65af-\u9a6c\u91d1\u5c3c\u65af\u7efc\u5408\u75c7\u662f\u53ef\u4ee5\u7528<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/?lang=zh-hans\">Hiro\u8bca\u6240NIPT<\/a>\u68c0\u6d4b\u7684\u5fae\u7f3a\u5931\u7efc\u5408\u75c7\u4e4b\u4e00\u3002<\/p>\n\n\n\n<p>\u300c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/microdeletion-syndrome\/?lang=zh-hans\">\u5fae\u7f3a\u5931\u7efc\u5408\u75c7<\/a>\u300d\u662f\u7531\u67d3\u8272\u4f53\u4e0a\u67d0\u4e00\u7279\u5b9a\u4f4d\u7f6e\u7684\u57fa\u56e0\u7f3a\u5931\u5f15\u8d77\u7684\u75be\u75c5\u3002\u636e\u8bf4\u7f3a\u5931\u7684\u5927\u5c0f\u53ef\u5c0f\u523050\u4e07\u4e2a\u78b1\u57fa*\uff0c\u901a\u5e38\u957f\u5ea6\u4e3a200\u81f3300\u4e07\u4e2a\u78b1\u57fa\u3002\u6839\u636e\u7f3a\u5931\u7684\u5927\u5c0f\u548c\u4f4d\u7f6e\uff0c\u8be5\u75c5\u53ef\u4ee5\u6709\u5404\u79cd\u75c7\u72b6\u548c\u4e25\u91cd\u7a0b\u5ea6\uff0c\u6240\u6709\u8fd9\u4e9b\u90fd\u4e0e\u5982\u7cbe\u795e\u8fdf\u6ede\u7b49\u7684\u53d1\u80b2\u8fdf\u7f13\u6709\u5173\u3002\u5927\u591a\u6570\u5fae\u7f3a\u5931\u7efc\u5408\u75c7\u662f\u81ea\u53d1\u7684\uff0c\u53d1\u751f\u65f6\u4e0e\u6bcd\u4f53\u5e74\u9f84\u65e0\u5173\u3002<br><br><sup>\uff0a\u78b1\u57fa<sup>\u2026<\/sup>DNA\u76844\u4e2a\u4e3b\u8981\u6210\u5206\uff1a\u817a\u560c\u5464\uff08A\uff09\u3001\u80f8\u817a\u5627\u5576\uff08T\uff09\u3001\u9e1f\u560c\u5464\uff08G\uff09\u548c\u80de\u5627\u5576\uff08C\uff09\u3002<\/sup><\/p>\n\n\n\n    <a href=\"\/nipt\/microdeletion-syndrome\/?lang=zh-hans\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u77e5\u7684\u969c\u5bb3\u3092\u4f34\u30467\u7a2e\u306e\u5fae\u5c0f\u6b20\u5931\u30fb\u91cd\u8907\u75be\u60a3 <\/div>\n          <div class=\"blog-card-excerpt\">\u6771\u4eac\u885b\u751f\u691c\u67fb\u6240\u306f\u65e5\u672c\u3067\u552f\u4e00\u5fae\u5c0f\u6b20\u5931\u30fb\u91cd\u8907\u75be\u60a3\u3092\u56fd\u5185\u691c\u67fb\u3092\u884c\u3046\u3053\u3068\u304c\u3067\u304d\u308b\u885b\u751f\u691c\u67fb\u6240\u3067\u3059\u3002\u5fae\u5c0f\u6b20\u5931\u30fb\u91cd\u8907\u75be\u60a3\u3068\u306f\u67d3\u8272\u4f53\u306e\u7279\u5b9a\u306e\u4f4d\u7f6e\u306e\u907a\u4f1d\u5b50\u304c\u6b20...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"c6\"><span class=\"ez-toc-section\" id=\"%E5%8F%B2%E5%AF%86%E6%96%AF-%E9%A9%AC%E9%87%91%E5%B0%BC%E6%96%AF%E7%BB%BC%E5%90%88%E7%97%87%E7%9A%84%E6%B2%BB%E7%96%97\"><\/span><strong>\u53f2\u5bc6\u65af-\u9a6c\u91d1\u5c3c\u65af\u7efc\u5408\u75c7\u7684\u6cbb\u7597<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u53f2\u5bc6\u65af-\u9a6c\u91d1\u5c3c\u65af\u7efc\u5408\u75c7\u5c1a\u672a\u6709\u6839\u672c\u7684\u6cbb\u7597\u65b9\u6cd5\uff0c\u4e3b\u8981\u662f\u5bf9\u8eab\u4f53\u75c7\u72b6\u3001\u7761\u7720\u969c\u788d\u548c\u81ea\u6b8b\u7b49\u884c\u4e3a\u75c7\u72b6\u3001\u53d1\u80b2\u969c\u788d\u548c\u5e76\u53d1\u75c7\u8fdb\u884c\u5bf9\u75c7\u6cbb\u7597\u3002\u7531\u4e8e\u8bb8\u591a\u75c7\u72b6\u5b58\u5728\u4e8e\u5168\u8eab\uff0c\u5404\u8bca\u7597\u79d1\u5c06\u5171\u540c\u89e3\u51b3\u6bcf\u4e2a\u75c7\u72b6\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"c7\"><span class=\"ez-toc-section\" id=\"%E5%8F%B2%E5%AF%86%E6%96%AF-%E9%A9%AC%E9%87%91%E5%B0%BC%E6%96%AF%E7%BB%BC%E5%90%88%E7%97%87%E7%9A%84%E9%A2%84%E5%90%8E%E5%92%8C%E9%A2%84%E6%9C%9F%E5%AF%BF%E5%91%BD\"><\/span><strong>\u53f2\u5bc6\u65af-\u9a6c\u91d1\u5c3c\u65af\u7efc\u5408\u75c7\u7684\u9884\u540e\u548c\u9884\u671f\u5bff\u547d<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u5173\u4e8e\u53f2\u5bc6\u65af-\u9a6c\u91d1\u5c3c\u65af\u7efc\u5408\u75c7\u7684\u9884\u540e\uff0c\u6ca1\u6709\u660e\u786e\u7684\u6570\u636e\uff0c\u4f46\u662f\u6709\u4e9b\u4eba\u5df2\u7ecf\u6d3b\u5230\u4e8680\u5c81\u4ee5\u4e0a\uff0c\u5728\u6ca1\u6709\u5668\u5b98\u5f02\u5e38\u7684\u60c5\u51b5\u4e0b\uff0c\u4eba\u4eec\u8ba4\u4e3a\u5176\u9884\u540e\u4e0e\u5176\u4ed6\u53d1\u80b2\u969c\u788d\u7684\u75be\u75c5\u76f8\u4f3c\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"c8\"><span class=\"ez-toc-section\" id=\"%E6%A6%82%E6%8B%AC\"><\/span><strong>\u6982\u62ec<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u53f2\u5bc6\u65af-\u9a6c\u91d1\u5c3c\u65af\u7efc\u5408\u75c7\uff0c\u662f\u753117\u53f7\u67d3\u8272\u4f53\u4e0a\u768417p11.2\u7684RAI1\u57fa\u56e0\u7f3a\u5931\u5f15\u8d77\u7684\u67d3\u8272\u4f53\u5f02\u5e38\u3002<\/p>\n\n\n\n<p>\u6700\u8fd1<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/?lang=zh-hans\">NIPT(\u65b0\u578b\u4ea7\u524d\u8bca\u65ad)<\/a>\uff0c\u6709\u53ef\u80fd\u5728\u51fa\u751f\u524d\u5c31\u77e5\u9053\u662f\u5426\u5b58\u5728\u8fd9\u79cd\u60c5\u51b5\uff0c\u4f46\u5e76\u4e0d\u662f\u6240\u6709\u63d0\u4f9bNIPT\u7684\u673a\u6784\u90fd\u80fd\u68c0\u6d4b\u53f2\u5bc6\u65af-\u9a6c\u91d1\u5c3c\u65af\u7efc\u5408\u75c7\u3002<\/p>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/?lang=zh-hans\"><font style=\"vertical-align: inherit;\"><font style=\"vertical-align: inherit;\">NIPT<\/font><\/font><\/a><font style=\"vertical-align: inherit;\"><font style=\"vertical-align: inherit;\">\u304c\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u3067\u884c\u3063\u305f<\/font><\/font><font style=\"vertical-align: inherit;\"><font style=\"vertical-align: inherit;\"> \u3001<\/font><\/font><\/p>\n\n\n\n<ul class=\"wp-block-list\"><li>\u53f2\u5bc6\u65af-\u9a6c\u91d1\u5c3c\u65af\u7efc\u5408\u75c7<\/li><li>\u8fea\u4e54\u6cbb\u7efc\u5408\u75c7<\/li><li>1p36\u7f3a\u5931\u7efc\u5408\u75c7<\/li><li>\u6c83\u5c14\u592b-\u8d6b\u65af\u970d\u6069\u7efc\u5408\u75c7<\/li><\/ul>\n\n\n\n<p>\u53ef\u4ee5\u68c0\u67e54\u79cd\u5fae\u7f3a\u5931\u7efc\u5408\u75c7\u3002\u5982\u679c\u62c5\u5fc3\u5b9d\u5b9d\u6709\u9057\u4f20\u75c5\uff0c\u6bd4\u5982\u4e4b\u524d\u6000\u5b55\u6709\u8fc7\u5f02\u5e38\uff0c\u6216\u8005\u6709\u8fc7\u591a\u6b21\u6d41\u4ea7\uff0c\u4f55\u4e0d\u8003\u8651\u68c0\u6d4b\u4e00\u4e0b\u5462\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\"><li>\u513f\u7ae5\u6162\u6027\u7279\u5b9a\u75be\u75c5\u4fe1\u606f\u4e2d\u5fc3 &#8211; <a rel=\"noreferrer noopener\" href=\"https:\/\/www.shouman.jp\/disease\/details\/13_01_003\/\" data-type=\"URL\" data-id=\"https:\/\/www.shouman.jp\/disease\/details\/13_01_003\/\" target=\"_blank\">\u53f2\u5bc6\u65af-\u9a6c\u91d1\u5c3c\u65af\u7efc\u5408\u75c7<\/a><\/li><li>\u9057\u4f20\u6027\u75be\u75c5plus &#8211; <a rel=\"noreferrer noopener\" href=\"https:\/\/genetics.qlife.jp\/diseases\/smith-magenis-syndrome\" data-type=\"URL\" data-id=\"https:\/\/genetics.qlife.jp\/diseases\/smith-magenis-syndrome\" target=\"_blank\">\u53f2\u5bc6\u65af-\u9a6c\u91d1\u5c3c\u65af\u7efc\u5408\u75c7<\/a><\/li><li>GeneReviews Japan &#8211; <a rel=\"noreferrer noopener\" href=\"http:\/\/grj.umin.jp\/grj\/sms.htm\" data-type=\"URL\" data-id=\"http:\/\/grj.umin.jp\/grj\/sms.htm\" target=\"_blank\">\u53f2\u5bc6\u65af-\u9a6c\u91d1\u5c3c\u65af\u7efc\u5408\u75c7<\/a><\/li><\/ul>\n<\/div><\/div>\n","protected":false},"excerpt":{"rendered":"\u4ec0\u4e48\u662f\u53f2\u5bc6\u65af-\u9a6c\u91d1\u5c3c\u65af\u7efc\u5408\u75c7 \u4ec0\u4e48\u65f6\u5019\u77e5&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/smith-maginnis-syndrome\/?lang=zh-hans\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":13,"featured_media":50970,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[247],"tags":[326,318,334],"class_list":["post-52143","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-prenatal-testing-zh-hans","tag-326","tag-nipt","tag-334"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/52143","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=52143"}],"version-history":[{"count":15,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/52143\/revisions"}],"predecessor-version":[{"id":118320,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/52143\/revisions\/118320"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/50970"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=52143"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=52143"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=52143"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}