{"id":62380,"date":"2023-09-20T10:58:52","date_gmt":"2023-09-20T01:58:52","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/early-nipt-microdeletion-syndrome\/"},"modified":"2024-03-05T16:39:24","modified_gmt":"2024-03-05T07:39:24","slug":"early-nipt-microdeletion-syndrome","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/early-nipt-microdeletion-syndrome\/?lang=zh-hans","title":{"rendered":"\u65e9\u671fNIPT\u68c0\u67e5\u4e2d\u53ef\u53d1\u73b0\u7684\u5fae\u7f3a\u5931\u7efc\u5408\u75c7\u662f\u4ec0\u4e48?\u540c\u65f6\u4ecb\u7ecd\u6bcf\u79cd\u7c7b\u578b\u7684\u6982\u8981"},"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_84 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">\u76ee\u6b21<\/p>\n<span 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ez-toc-heading-24\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/early-nipt-microdeletion-syndrome\/?lang=zh-hans\/#%E6%B2%BB%E7%96%97%E6%96%B9%E6%B3%95-7\" >\u6cbb\u7597\u65b9\u6cd5<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-25\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/early-nipt-microdeletion-syndrome\/?lang=zh-hans\/#Hiro%E8%AF%8A%E6%89%80NIPT%E5%8F%AF%E8%AF%8A%E6%96%AD%E5%87%BA4%E7%A7%8D%E5%BE%AE%E7%BC%BA%E5%A4%B1%E7%BB%BC%E5%90%88%E7%97%87\" >Hiro\u8bca\u6240NIPT\u53ef\u8bca\u65ad\u51fa4\u79cd\u5fae\u7f3a\u5931\u7efc\u5408\u75c7<\/a><\/li><\/ul><\/nav><\/div>\n<h2 style=\"margin-top:1rem;\"><span class=\"ez-toc-section\" id=\"%E6%9C%AC%E6%96%87%E6%91%98%E8%A6%81\"><\/span>\u672c\u6587\u6458\u8981<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>\u4e3a\u4e86\u5c3d\u65e9\u53d1\u73b0\u5fae\u7f3a\u5931\u7efc\u5408\u75c7, <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> (\u65b0\u578b\u4ea7\u524d\u8bca\u65ad) \u68c0\u67e5\u5907\u53d7\u5173\u6ce8\u3002\u5fae\u7f3a\u5931\u7efc\u5408\u75c7\u662f\u7531\u67d3\u8272\u4f53\u7684\u7279\u5b9a\u90e8\u5206\u7f3a\u5931\u6216\u4e22\u5931\u6240\u5f15\u8d77\u7684,\u7531\u4e8e\u4f4d\u7f6e\u7684\u4e0d\u540c\u800c\u5206\u4e3a\u591a\u79cd\u75be\u75c5\u3002<br>\n\u672c\u6587\u5c06\u4ecb\u7ecd7\u79cd\u5fae\u7f3a\u5931\u7efc\u5408\u75c7\u7684\u539f\u56e0\u3001\u75c7\u72b6\u548c\u6cbb\u7597\u65b9\u6cd5\u7b49\u4fe1\u606f\u3002\n<\/p><\/div>\n\n\n\n<div class=\"toc\">\n  <ul>\n    <li><a href=\"#c1\">\u5fae\u7f3a\u5931\u7efc\u5408\u75c7\u662f\u4ec0\u4e48<\/a>\n      <ul>\n        <li><a href=\"#c1-1\">\u901a\u8fc7\u65e9\u671fNIPT\u68c0\u67e5\u80fd\u53d1\u73b0<\/a><\/li>\n      <\/ul>\n    <\/li>\n    <li><a href=\"#c2\">\u3010\u6848\u4f8b\u5206\u67901\u3011 \u8fea\u4e54\u6cbb\u7efc\u5408\u75c7<\/a>\n      <ul>\n        <li><a href=\"#c2-1\">\u539f\u56e0\u548c\u75c7\u72b6<\/a><\/li>\n        <li><a href=\"#c2-2\">\u6cbb\u7597\u65b9\u6cd5<\/a><\/li>\n      <\/ul>\n    <\/li>\n    <li><a href=\"#c3\">\u3010\u6848\u4f8b\u5206\u67902\u3011 1p36\u7f3a\u5931\u7efc\u5408\u75c7<\/a>\n      <ul>\n        <li><a href=\"#c3-1\">\u539f\u56e0\u548c\u75c7\u72b6<\/a><\/li>\n        <li><a href=\"#c3-2\">\u6cbb\u7597\u65b9\u6cd5<\/a><\/li>\n      <\/ul>\n    <\/li>\n    <li><a href=\"#c4\">\u3010\u6848\u4f8b\u5206\u67903\u3011 \u53f2\u5bc6\u65af-\u9a6c\u91d1\u5c3c\u65af\u7efc\u5408\u5f81<\/a>\n      <ul>\n        <li><a href=\"#c4-1\">\u539f\u56e0\u548c\u75c7\u72b6<\/a><\/li>\n        <li><a href=\"#c4-2\">\u6cbb\u7597\u65b9\u6cd5<\/a><\/li>\n      <\/ul>\n    <\/li>\n    <li><a href=\"#c5\">\u3010\u6848\u4f8b\u5206\u67904\u3011 \u6c83\u5c14\u592b\u5e0c\u5c14\u970d\u6069\u7efc\u5408\u75c7<\/a>\n      <ul>\n        <li><a href=\"#c5-1\">\u539f\u56e0\u548c\u75c7\u72b6<\/a><\/li>\n        <li><a href=\"#c5-2\">\u6cbb\u7597\u65b9\u6cd5<\/a><\/li>\n      <\/ul>\n    <\/li>\n    <li><a href=\"#c6\">\u3010\u6848\u4f8b\u5206\u67905\u3011 \u666e\u62c9\u5fb7-\u5a01\u5229\u7efc\u5408\u75c7<\/a>\n      <ul>\n        <li><a href=\"#c6-1\">\u539f\u56e0\u548c\u75c7\u72b6<\/a><\/li>\n        <li><a href=\"#c6-2\">\u6cbb\u7597\u65b9\u6cd5<\/a><\/li>\n      <\/ul>\n    <\/li>\n    <li><a href=\"#c7\">\u3010\u6848\u4f8b\u5206\u67906\u3011 \u5b89\u5409\u5c14\u66fc\u7efc\u5408\u75c7<\/a>\n      <ul>\n        <li><a href=\"#c7-1\">\u539f\u56e0\u548c\u75c7\u72b6<\/a><\/li>\n        <li><a href=\"#c7-2\">\u6cbb\u7597\u65b9\u6cd5<\/a><\/li>\n      <\/ul>\n    <\/li>\n    <li><a href=\"#c8\">\u3010\u6848\u4f8b\u5206\u67907\u3011 5p\u7f3a\u5931\u7efc\u5408\u75c7<\/a>\n      <ul>\n        <li><a href=\"#c8-1\">\u539f\u56e0\u548c\u75c7\u72b6<\/a><\/li>\n        <li><a href=\"#c8-2\">\u6cbb\u7597\u65b9\u6cd5<\/a><\/li>\n      <\/ul>\n    <\/li>\n    <li><a href=\"#c9\">Hiro\u8bca\u6240NIPT\u53ef\u8bca\u65ad\u51fa4\u79cd\u5fae\u7f3a\u5931\u7efc\u5408\u75c7<\/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\" 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\" id=\"c1\"><span class=\"ez-toc-section\" id=\"%E5%BE%AE%E7%BC%BA%E5%A4%B1%E7%BB%BC%E5%90%88%E7%97%87%E6%98%AF%E4%BB%80%E4%B9%88\"><\/span><strong>\u5fae\u7f3a\u5931\u7efc\u5408\u75c7\u662f\u4ec0\u4e48<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u5fae\u7f3a\u5931\u7efc\u5408\u75c7\u662f\u7531\u67d0\u4e9b\u67d3\u8272\u4f53\u57fa\u56e0\u7684\u7f3a\u5931\u6216\u9057\u6f0f\u6240\u5f15\u8d77\u7684\u75be\u75c5\u3002\u8fd9\u662f\u7531\u975e\u5e38\u5c0f\u7684\u7f3a\u5931\u5bfc\u81f4\u7684,\u5176\u5927\u5c0f\u4ece50\u4e07\u4e2a\u78b1\u57fa\u5f00\u59cb,\u4e00\u822c\u5728100\u4e07\u5230300\u4e07\u4e2a\u78b1\u57fa\u4e4b\u95f4\u3002<\/p>\n\n\n\n<p>\u5927\u591a\u6570\u75be\u75c5\u90fd\u6709\u4e25\u91cd\u7684\u5148\u5929\u6027\u7578\u5f62,\u5e76\u4e25\u91cd\u5f71\u54cd<strong>\u5fc3\u7406\u53d1\u80b2<\/strong>\u548c<strong>\u8eab\u4f53\u53d1\u80b2<\/strong>\u3002\u4f9d\u636e\u7f3a\u5931\u7684\u5927\u5c0f\u548c\u4f4d\u7f6e\u786e\u5b9a\u5176\u75c7\u72b6\u548c\u4e25\u91cd\u7a0b\u5ea6\u3002\u6b64\u5916\uff0c\u5fae\u5c0f\u7f3a\u5931\u7efc\u5408\u75c7\u88ab\u8ba4\u4e3a\u662f<strong>\u81ea\u53d1\u6027\u7684,\u4e0e\u6bcd\u4eb2\u7684\u5e74\u9f84\u65e0\u5173<\/strong>\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"c1-1\"><span class=\"ez-toc-section\" id=\"%E9%80%9A%E8%BF%87%E6%97%A9%E6%9C%9FNIPT%E6%A3%80%E6%9F%A5%E8%83%BD%E5%8F%91%E7%8E%B0\"><\/span><strong>\u901a\u8fc7\u65e9\u671fNIPT\u68c0\u67e5\u80fd\u53d1\u73b0<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> (\u65b0\u578b\u4ea7\u524d\u8bca\u65ad) \u68c0\u67e5\u662f\u4e00\u79cd\u65b0\u578b\u7684\u4ea7\u524d\u8bca\u65ad,\u53ef\u5728\u6000\u5b5510\u5468\u540e\u8fdb\u884c\u65e0\u521b\u6027\u7b5b\u67e5\u3002\u901a\u8fc7\u8fdb\u884c\u8be5\u68c0\u67e5,\u80fd\u591f\u53d1\u73b0\u5fae\u7f3a\u5931\u7efc\u5408\u75c7\u3002<\/p>\n\n\n\n<p>\u53e6\u5916\uff0cNIPT\u68c0\u67e5\u4e5f\u80fd\u68c0\u67e5\u5e38\u67d3\u8272\u4f53\u975e\u6574\u500d\u4f53\u548c\u6027\u67d3\u8272\u4f53\u975e\u6574\u500d\u4f53,\u4ee5\u53ca\u6027\u522b\u68c0\u67e5\u7b49,\u6240\u4ee5\u9664\u4e86\u5fae\u7f3a\u5931\u7efc\u5408\u75c7\u4e4b\u5916,\u4e5f\u80fd\u591f\u53d1\u73b0\u5e38\u89c1\u7684\u67d3\u8272\u4f53\u75be\u75c5\u3001\u5176\u4ed6\u67d3\u8272\u4f53\u75be\u75c5\u3001\u6216\u6027\u67d3\u8272\u4f53\u5f02\u5e38\u7b49\u3002\u800c\u4e14,\u4e5f\u63a8\u8350\u7ed9\u60f3\u901a\u8fc7\u68c0\u67e5\u6027\u67d3\u8272\u4f53\u6765\u4e86\u89e3\u5b9d\u5b9d\u6027\u522b\u7684\u4eba\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2023\/09\/early-nipt-microdeletion-syndrome_2.jpg\" alt=\"\" class=\"wp-image-62163\"\/><\/figure><\/div>\n\n\n<h2 class=\"wp-block-heading\" id=\"c2\"><span class=\"ez-toc-section\" id=\"%E3%80%90%E6%A1%88%E4%BE%8B%E5%88%86%E6%9E%901%E3%80%91_%E8%BF%AA%E4%B9%94%E6%B2%BB%E7%BB%BC%E5%90%88%E7%97%87\"><\/span><strong>\u3010\u6848\u4f8b\u5206\u67901\u3011 \u8fea\u4e54\u6cbb\u7efc\u5408\u75c7<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u8fea\u4e54\u6cbb\u7efc\u5408\u75c7\u4e5f\u88ab\u79f0\u4e3a \u300c22q11.2\u7f3a\u5931\u7efc\u5408\u75c7\u300d \u6216 \u300c\u80f8\u817a\u53d1\u80b2\u4e0d\u826f\u7efc\u5408\u75c7\u300d \u3002<\/p>\n\n\n\n<p>\u5176\u53d1\u75c5\u9891\u7387<strong>\u7ea6\u4e3a\u6bcf4000~6000\u4eba\u4e2d\u5c31\u67091\u4f8b<\/strong>,\u76ee\u524d\u7684\u7814\u7a76\u5c1a\u4e0d\u6e05\u695a\u54ea\u4e9b\u4eba\u5bb9\u6613\u53d1\u75c5\u3002\u670980%\u7684\u5148\u5146\u8005\u4f34\u6709\u5148\u5929\u6027\u75be\u75c5\u3002<\/p>\n\n\n\n<p>\u5728\u6b64,\u5c06\u4ecb\u7ecd\u5176\u53d1\u75c5\u7684\u539f\u56e0,\u8be6\u7ec6\u7684\u75c7\u72b6\u548c\u6cbb\u7597\u65b9\u6cd5\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"c2-1\"><span class=\"ez-toc-section\" id=\"%E5%8E%9F%E5%9B%A0%E5%92%8C%E7%97%87%E7%8A%B6\"><\/span><strong>\u539f\u56e0\u548c\u75c7\u72b6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8fea\u4e54\u6cbb\u7efc\u5408\u75c7\u662f\u56e0<strong>\u7b2c22\u6761\u67d3\u8272\u4f5322q11.2\u7684\u5fae\u7f3a\u5931<\/strong>\u6240\u81f4\u3002\u5176\u53d1\u75c5\u7684\u539f\u56e0\u662f\u8be5\u90e8\u5206\u6709\u5927\u7ea630\u4e2a\u57fa\u56e0\u7f3a\u5931\u3002\u5176\u7279\u5f81\u662f\u670980%\u5de6\u53f3\u7684\u60a3\u8005\u4f1a\u51fa\u73b0\u5e76\u53d1\u75c7\u3002<\/p>\n\n\n\n<p><span class=\"y_marker\">\u5176\u4e3b\u8981\u75c7\u72b6\u5305\u62ec\u53d1\u80b2\u8fdf\u7f13\u3001\u7279\u5f81\u76f8\u8c8c\u3001\u514d\u75ab\u529f\u80fd\u4f4e\u4e0b\u3001\u816d\u30fb\u88c2\u8f6f\u816d\u95ed\u5408\u4e0d\u5168\u3001\u5148\u5929\u6027\u5fc3\u8840\u7ba1\u75be\u75c5\u3001\u80f8\u817a\u53d1\u80b2\u4e0d\u826f\u3001\u4f4e\u9499\u8840\u75c7\u3001\u4ee5\u53ca\u9f3b\u58f0\u7b49\u3002\u53e6\u5916\uff0c\u8fd8\u5b58\u5728\u4e0e\u795e\u7ecf\u53d1\u80b2\u8fdf\u7f13\u4e00\u5e76\u5bfc\u81f4\u8a00\u8bed\u53d1\u80b2\u8fdf\u7f13\u548c\u80be\u810f\u7578\u5f62\u7684\u98ce\u9669\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"c2-2\"><span class=\"ez-toc-section\" id=\"%E6%B2%BB%E7%96%97%E6%96%B9%E6%B3%95\"><\/span><strong>\u6cbb\u7597\u65b9\u6cd5<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u76ee\u524d\u6ca1\u6709\u6cbb\u7597\u67d3\u8272\u4f53\u5f02\u5e38\u7684\u65b9\u6cd5\u3002\u4f46\u662f\uff0c\u5173\u4e8e\u6240\u5f15\u53d1\u7684\u5e76\u53d1\u75c7\u6709\u4e0d\u540c\u7684\u6cbb\u7597\u65b9\u6cd5\u3002<\/p>\n\n\n\n<p>\u9996\u8981\u6cbb\u7597\u7684\u75c7\u72b6\u662f\u5fc3\u810f\u75be\u75c5\u76f8\u5173\u3002\u4ece\u65b0\u751f\u513f\u65f6\u671f\u5f00\u59cb,\u9700\u8981\u5236\u5b9a\u9002\u5408\u5404\u60a3\u8005\u4f53\u8d28\u7684\u5fc3\u810f\u624b\u672f\u89c4\u5212,\u5e76\u7ec8\u751f\u63a5\u53d7\u4ee5\u4e34\u5e8a\u75c7\u72b6\u4e3a\u57fa\u7840\u7684\u6cbb\u7597\u548c\u751f\u6d3b\u8f85\u5bfc\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"c3\"><span class=\"ez-toc-section\" id=\"%E3%80%90%E6%A1%88%E4%BE%8B%E5%88%86%E6%9E%902%E3%80%91_1p36%E7%BC%BA%E5%A4%B1%E7%BB%BC%E5%90%88%E7%97%87\"><\/span><strong>\u3010\u6848\u4f8b\u5206\u67902\u3011 1p36\u7f3a\u5931\u7efc\u5408\u75c7<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>1p36\u7f3a\u5931\u7efc\u5408\u75c7\u662f\u6307\u5728<strong>1\u53f7\u67d3\u8272\u4f53\u77ed\u81c2\u672b\u7aef\u76841p36\u533a\u57df\u53d1\u751f\u7f3a\u5931<\/strong>\u7684\u7efc\u5408\u75c7\u3002\u636e\u62a5\u9053\uff0c\u56fd\u5916\u6bcf1\u4e07\u4eba\u4e2d\u7ea6\u67091\u4eba\u53d1\u75c5\uff0c\u800c\u5728\u65e5\u672c\u8fdb\u884c\u7684\u8c03\u67e5\u4f30\u8ba1\u7ea6\u4e3a<strong>25,000\u301c40,000\u4eba\u4e2d\u67091\u4eba<\/strong>\u53d1\u75c5\u3002<\/p>\n\n\n\n<p>\u5927\u591a\u6570\u53d1\u75c5\u662f\u7531\u4e8e\u7a81\u53d8\u5bfc\u81f4\u7684\u67d3\u8272\u4f53\u5f02\u5e38\u3002<\/p>\n\n\n\n<p>\u5728\u6b64\u4ecb\u7ecd\u5173\u4e8e\u53d1\u75c5\u539f\u56e0\u548c\u8be6\u7ec6\u75c7\u72b6\u3001\u6cbb\u7597\u65b9\u6cd5\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"c3-1\"><span class=\"ez-toc-section\" id=\"%E5%8E%9F%E5%9B%A0%E5%92%8C%E7%97%87%E7%8A%B6-2\"><\/span><strong>\u539f\u56e0\u548c\u75c7\u72b6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u7531\u5148\u5929\u6027\u56e0\u7d20\u5bfc\u81f4\u76841\u53f7\u67d3\u8272\u4f53\u77ed\u81c2\u672b\u7aef\u7f3a\u5931\u6240\u81f4\u30021\u53f7\u67d3\u8272\u4f53\u77ed\u81c2\u672b\u7aef\u7684\u7f3a\u5931\u6709\u4e24\u79cd\u60c5\u51b5\uff0c\u4e00\u79cd\u662f\u7a81\u53d1\u6027\u7684,\u53e6\u4e00\u79cd\u662f\u7531\u4e8e\u7236\u6bcd\u7684\u5e73\u8861\u6613\u4f4d\u5f15\u8d77\u7684\u4e0d\u5e73\u8861\u6613\u4f4d\u3002<\/p>\n\n\n\n<p>\u4e3b\u8981\u75c7\u72b6\u5305\u62ec\u6210\u957f\u969c\u788d\u3001\u667a\u529b\u53d1\u80b2\u8fdf\u7f13\u3001\u96be\u6cbb\u6027\u766b\u75eb\u3001\u7279\u5f81\u76f8\u8c8c\u3001\u808c\u5f20\u529b\u4f4e\u4e0b\u548c\u8fdb\u98df\u969c\u788d\u3002\u5176\u5e76\u53d1\u75c7\u5305\u62ec\u5148\u5929\u6027\u5fc3\u810f\u75c5\u3001\u659c\u89c6\u3001\u542c\u529b\u4e0b\u964d\u3001\u767d\u5185\u969c\u3001\u80a5\u80d6\u548c\u795e\u7ecf\u6bcd\u7ec6\u80de\u7624\u3002<\/p>\n\n\n\n<p>\u8bb8\u591a\u60a3\u8005\u4f1a\u51fa\u73b0\u667a\u529b\u548c\u8fd0\u52a8\u80fd\u529b\u53d1\u80b2\u8fdf\u7f13,\u4f46\u5176\u4e25\u91cd\u7a0b\u5ea6\u5404\u4e0d\u76f8\u540c\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"c3-2\"><span class=\"ez-toc-section\" id=\"%E6%B2%BB%E7%96%97%E6%96%B9%E6%B3%95-2\"><\/span><strong>\u6cbb\u7597\u65b9\u6cd5<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u76ee\u524d\u65e0\u6cd5\u6839\u6cbb\u67d3\u8272\u4f53\u5f02\u5e38\u3002\u5c06\u9488\u5bf9\u5404\u79cd\u75c7\u72b6\u8fdb\u884c\u6cbb\u7597\u3002<\/p>\n\n\n\n<p>\u4e3e\u4f8b\u6765\u8bf4,\u53d1\u80b2\u8fdf\u7f13\u548c\u808c\u8089\u5f20\u529b\u964d\u4f4e\u7b49,\u53ef\u4ee5\u901a\u8fc7\u5a74\u5e7c\u513f\u671f\u65e9\u671f\u8fdb\u884c\u6cbb\u7597\u8bad\u7ec3\u6765\u7f13\u89e3\u5176\u75c7\u72b6\u3002<\/p>\n\n\n\n<p>\u6b64\u5916\uff0c\u6839\u636e\u9057\u4f20\u5b66\u8bca\u65ad\u7684\u9057\u4f20\u54a8\u8be2\u5bf9\u4e8e\u60a3\u8005\u7684\u5bb6\u5ead\u81f3\u5173\u91cd\u8981\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"c4\"><span class=\"ez-toc-section\" id=\"%E3%80%90%E6%A1%88%E4%BE%8B%E5%88%86%E6%9E%903%E3%80%91_%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>\u3010\u6848\u4f8b\u5206\u67903\u3011 \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\u662f\u56e0\u4e3a\u9057\u4f20\u57fa\u56e0\u7684<strong>17p11.2\u533a\u57df\u7f3a\u5931<\/strong>\u800c\u5f15\u8d77\u7684\u5148\u5929\u5f02\u5e38\u7efc\u5408\u75c7\u3002\u65e5\u672c\u56fd\u5185\u7684\u60a3\u8005\u4eba\u6570\u4f30\u8ba1\u5728<strong>30\u301c50\u4eba<\/strong>\u5de6\u53f3\u3002\u8fd8\u4e0d\u6e05\u695a\u4ec0\u4e48\u6837\u7684\u4eba\u5bb9\u6613\u51fa\u73b0\u75c7\u72b6\u3002<\/p>\n\n\n\n<p>\u5728\u60a3\u8005\u7684\u5bb6\u5ead\u548c\u5bb6\u65cf\u4e2d,\u5f88\u5c11\u4f1a\u51fa\u73b0\u53f2\u5bc6\u65af-\u9a6c\u91d1\u5c3c\u65af\u7efc\u5408\u75c7,\u56e0\u6b64\u63a8\u6d4b\u662f\u5076\u7136\u53d1\u751f\u7684\u3002<\/p>\n\n\n\n<p>\u5728\u6b64,\u5c06\u4ecb\u7ecd\u53d1\u75c5\u7684\u539f\u56e0\u548c\u8be6\u7ec6\u7684\u75c7\u72b6\u3001\u6cbb\u7597\u65b9\u6cd5\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"c4-1\"><span class=\"ez-toc-section\" id=\"%E5%8E%9F%E5%9B%A0%E5%92%8C%E7%97%87%E7%8A%B6-3\"><\/span><strong>\u539f\u56e0\u548c\u75c7\u72b6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5176\u539f\u56e0\u662f\u7531\u4e8e2\u676117\u53f7\u67d3\u8272\u4f53\u77ed\u81c2\u4e4b\u4e00\u7684\u4e2d\u6bb5\u7f3a\u5931\u3002\u7814\u7a76\u8fd8\u53d1\u73b0,\u7f3a\u5931\u533a\u57df\u4e2dRAI1\u57fa\u56e0\u7684\u5355\u500d\u6027\u8870\u7aed\u4e0e\u8be5\u75c5\u7684\u53d1\u75c5\u6709\u5173\u3002<\/p>\n\n\n\n<p>\u5927\u90e8\u5206\u662f\u7531\u4e8e\u542b\u6709RAI1\u7684\u67d3\u8272\u4f53\u90e8\u5206\u7f3a\u5931,\u4f46\u4e5f\u6709\u5c11\u6570\u662fRAI1\u57fa\u56e0\u7684\u7a81\u53d8\u3002<\/p>\n\n\n\n<p>\u4e3b\u8981\u75c7\u72b6\u4e3a\u96be\u6cbb\u6027\u766b\u75eb\u3001\u672b\u68a2\u795e\u7ecf\u529f\u80fd\u969c\u788d\u3001\u7279\u5f81\u76f8\u8c8c\u3001\u7cbe\u795e\u53d1\u80b2\u8fdf\u7f13\u3001\u5148\u5929\u6027\u5fc3\u810f\u75c5\u3001\u81ea\u6b8b\u884c\u4e3a\u3001\u884c\u4e3a\u5f02\u5e38\u7b49\u3002\u4e5f\u6709\u56e0\u5feb\u901f\u773c\u52a8\u7761\u7720\u51cf\u5c11\u6216\u7f3a\u4e4f\u800c\u5f15\u8d77\u7761\u7720\u969c\u788d\u7684\u60a3\u8005\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"c4-2\"><span class=\"ez-toc-section\" id=\"%E6%B2%BB%E7%96%97%E6%96%B9%E6%B3%95-3\"><\/span><strong>\u6cbb\u7597\u65b9\u6cd5<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u76ee\u524d\u5c1a\u65e0\u6539\u5584\u67d3\u8272\u4f53\u5f02\u5e38\u7684\u6cbb\u7597\u65b9\u6cd5\u3002\u5c06\u6839\u636e\u5404\u79cd\u75c7\u72b6\u8fdb\u884c\u6cbb\u7597\u3002<\/p>\n\n\n\n<p>\u4e3e\u4f8b\u6765\u8bf4,\u53ef\u4ee5\u53e3\u670d\u6297\u766b\u75eb\u836f\u7269\u6cbb\u7597\u766b\u75eb\u3002\u5bf9\u4e8e\u81ea\u4f24\u884c\u4e3a\u548c\u884c\u4e3a\u5f02\u5e38,\u5c31\u9700\u8981\u6301\u7eed\u7684\u5eb7\u590d\u8bad\u7ec3\u548c\u54a8\u8be2\u3002<\/p>\n\n\n\n<p>\u5bf9\u4e8e\u7761\u7720\u969c\u788d\u7684\u6cbb\u7597\uff0c\u5728\u65e5\u672c\u53ef\u4ee5\u4f7f\u7528\u7684\u836f\u7269\u662f\u6709\u9650\u7684,\u56e0\u6b64\u6709\u5fc5\u8981\u4ee5\u590d\u5065\u4e3a\u91cd\u70b9\u8fdb\u884c\u6cbb\u7597\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"c5\"><span class=\"ez-toc-section\" id=\"%E3%80%90%E6%A1%88%E4%BE%8B%E5%88%86%E6%9E%904%E3%80%91_%E6%B2%83%E5%B0%94%E5%A4%AB%E5%B8%8C%E5%B0%94%E9%9C%8D%E6%81%A9%E7%BB%BC%E5%90%88%E7%97%87\"><\/span><strong>\u3010\u6848\u4f8b\u5206\u67904\u3011 \u6c83\u5c14\u592b\u5e0c\u5c14\u970d\u6069\u7efc\u5408\u75c7<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u6c83\u5c14\u592b\u5e0c\u5c14\u5e0c\u4ea8\u7efc\u5408\u75c7\u4e5f\u88ab\u79f0\u4e3a\u300c4p\u7f3a\u5931\u7efc\u5408\u75c7\u300d \u3002\u662f\u7531\u4e8e\u57fa\u56e0\u7684<strong>4p16.3\u533a\u57df\u53d1\u751f\u7f3a\u5931<\/strong>\u800c\u53d1\u75c5\u7684\u7efc\u5408\u75c7\u3002\u4f30\u8ba1\u5927\u7ea6<strong>\u6bcf5\u4e07\u4eba\u4e2d\u5c31\u67091\u4eba<\/strong>\u53d1\u75c5,\u7537\u5973\u6bd4\u4f8b\u4e3a1:2\u3002<\/p>\n\n\n\n<p>\u7531\u4e8e\u7f3a\u5931\u7684\u5927\u5c0f\u5404\u4e0d\u76f8\u540c\uff0c\u56e0\u6b64\u6709\u53ef\u80fd\u5ffd\u7565\u4e86\u8f83\u5c0f\u7684\u60a3\u8005,\u5b9e\u9645\u4e0a\u4e5f\u88ab\u8ba4\u4e3a\u5b58\u5728\u66f4\u591a\u7684\u60a3\u8005\u3002<\/p>\n\n\n\n<p>\u5728\u6b64,\u5c06\u4ecb\u7ecd\u53d1\u75c5\u7684\u539f\u56e0\u548c\u8be6\u7ec6\u7684\u75c7\u72b6\u3001\u6cbb\u7597\u65b9\u6cd5\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"c5-1\"><span class=\"ez-toc-section\" id=\"%E5%8E%9F%E5%9B%A0%E5%92%8C%E7%97%87%E7%8A%B6-4\"><\/span><strong>\u539f\u56e0\u548c\u75c7\u72b6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5176\u539f\u56e0\u662f\u56e0\u4f4d\u4e8e4\u53f7\u67d3\u8272\u4f53\u77ed\u81c2\u7684\u57fa\u56e0\u7fa4\u7f3a\u5931\u800c\u5bfc\u81f4\u534a\u6570\u4e0d\u5168\u3002\u5927\u591a\u6570\u662f\u7a81\u53d8\u6240\u81f4\u7684\u5355\u4e00\u7f3a\u5931,\u4f46\u5c11\u6570\u60c5\u51b5\u4e0b\u662f\u7531\u4e8e\u4e0d\u5e73\u8861\u7684\u76f8\u4e92\u6613\u4f4d\u3002<\/p>\n\n\n\n<p><span class=\"y_marker\">\u4e3b\u8981\u75c7\u72b6\u6709\u53d1\u80b2\u969c\u788d\u3001\u808c\u5f20\u529b\u4f4e\u4e0b\u3001\u7279\u5f81\u76f8\u8c8c\u3001\u7cbe\u795e\u53d1\u80b2\u8fdf\u7f13\u3001\u8fd0\u52a8\u53d1\u80b2\u8fdf\u7f13\u3001\u667a\u529b\u969c\u788d\u3001\u96be\u6cbb\u6027\u766b\u75eb\u3001\u8fdb\u98df\u969c\u788d\u3001\u9aa8\u9abc\u5f02\u5e38\u3001\u5148\u5929\u6027\u5fc3\u810f\u75c5\u3001\u542c\u529b\u969c\u788d\u3001\u6ccc\u5c3f\u9053\u7578\u5f62\u3001\u8111\u7ed3\u6784\u5f02\u5e38\u7b49\u3002<\/span><\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"c5-2\"><span class=\"ez-toc-section\" id=\"%E6%B2%BB%E7%96%97%E6%96%B9%E6%B3%95-4\"><\/span><strong>\u6cbb\u7597\u65b9\u6cd5<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u76ee\u524d\u5c1a\u65e0\u6cbb\u7597\u67d3\u8272\u4f53\u5f02\u5e38\u7684\u65b9\u6cd5\u3002\u9700\u8981\u914d\u5408\u5404\u79cd\u75c7\u72b6\u8fdb\u884c\u6cbb\u7597\u3002<\/p>\n\n\n\n<p>\u4e3e\u4f8b\u6765\u8bf4,\u5bf9\u4e8e\u7cbe\u795e\u548c\u8fd0\u52a8\u53d1\u80b2\u8fdf\u6ede,\u8fdb\u884c\u4ee5\u63d0\u9ad8\u8fd0\u52a8\u53d1\u80b2\u548c\u8ba4\u77e5\u3001\u8bed\u8a00\u3001\u793e\u4f1a\u6027\u80fd\u529b\u4e3a\u76ee\u7684\u7684\u590d\u5065\u3002<\/p>\n\n\n\n<p>\u5bf9\u4e8e\u8fdb\u98df\u969c\u788d,\u5e94\u8fdb\u884c\u8fdb\u98df\u8bad\u7ec3,\u82e5\u5e76\u53d1\u80c3\u98df\u9053\u9006\u6d41\u75c7,\u5219\u9700\u8981\u8fdb\u884c\u80c3\u9020\u53e3\u672f\u6216\u8d32\u95e8\u7f29\u5c0f\u672f\u7b49\u5916\u79d1\u6cbb\u7597\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"c6\"><span class=\"ez-toc-section\" id=\"%E3%80%90%E6%A1%88%E4%BE%8B%E5%88%86%E6%9E%905%E3%80%91_%E6%99%AE%E6%8B%89%E5%BE%B7-%E5%A8%81%E5%88%A9%E7%BB%BC%E5%90%88%E7%97%87\"><\/span><strong>\u3010\u6848\u4f8b\u5206\u67905\u3011 \u666e\u62c9\u5fb7-\u5a01\u5229\u7efc\u5408\u75c7<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u666e\u62c9\u5fb7-\u5a01\u5229\u7efc\u5408\u75c7\u6700\u521d\u662f\u4e00\u79cd\u5370\u8ff9\u75be\u75c5\u3002\u5176\u53d1\u75c5\u9891\u7387\u4e3a<strong>\u6bcf1\u4e07~1\u4e075000\u4eba\u4e2d\u5c31\u67091\u4eba<\/strong>,\u4e0d\u5b58\u5728\u4eba\u79cd\u5dee\u5f02\u3002<\/p>\n\n\n\n<p>\u5728\u6b64,\u5c06\u4ecb\u7ecd\u53d1\u75c5\u7684\u539f\u56e0\u548c\u8be6\u7ec6\u7684\u75c7\u72b6\u3001\u6cbb\u7597\u65b9\u6cd5\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"c6-1\"><span class=\"ez-toc-section\" id=\"%E5%8E%9F%E5%9B%A0%E5%92%8C%E7%97%87%E7%8A%B6-5\"><\/span><strong>\u539f\u56e0\u548c\u75c7\u72b6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u7531\u4f4d\u4e8e15\u53f7\u67d3\u8272\u4f53\u4e09\u4f53\u7efc\u5408\u75c7\u7684q11-q13\u7684<strong>\u7236\u4eb2\u6240\u4ea7\u751f<\/strong>\u7684\u590d\u6570\u57fa\u56e0\u529f\u80fd\u4e27\u5931\u800c\u53d1\u75c5\u3002<\/p>\n\n\n\n<p>\u7236\u7cfb\u57fa\u56e0\u8868\u8fbe\u529f\u80fd\u4e27\u5931\u7684\u539f\u56e0\u5305\u62ec15q11-q13\u7684\u7236\u7cfb\u67d3\u8272\u4f53\u5fae\u7f3a\u5931\u300115\u53f7\u67d3\u8272\u4f53\u6bcd\u7cfb\u5355\u4eb2\u6027\u4e8c\u500d\u4f53\u3001\u57fa\u56e0\u7ec4\u5370\u8bb0\u7f3a\u9677\u5f15\u8d77\u7684\u5370\u8bb0\u7a81\u53d8\u7b49\u3002<\/p>\n\n\n\n<p>\u4e3b\u8981\u75c7\u72b6\u5305\u62ec\u808c\u5f20\u529b\u4f4e\u4e0b\u3001\u8272\u7d20\u51cf\u9000\u3001\u5916\u751f\u6b96\u5668\u53d1\u80b2\u4e0d\u826f\u3001\u80a5\u80d6\u3001\u8eab\u6750\u77ee\u5c0f\u3001\u7279\u5f81\u6027\u4eba\u683c\u969c\u788d\u3001\u5f02\u5e38\u884c\u4e3a\u548c\u7cd6\u5c3f\u75c5\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"c6-2\"><span class=\"ez-toc-section\" id=\"%E6%B2%BB%E7%96%97%E6%96%B9%E6%B3%95-5\"><\/span><strong>\u6cbb\u7597\u65b9\u6cd5<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u76ee\u524d\u5c1a\u65e0\u6cbb\u7597\u67d3\u8272\u4f53\u5f02\u5e38\u7684\u65b9\u6cd5\u3002\u9700\u8981\u6839\u636e\u5404\u4e2a\u75c7\u72b6\u8fdb\u884c\u6cbb\u7597\u3002<\/p>\n\n\n\n<p>\u73b0\u5728\u5206\u522b\u8fdb\u884c\u996e\u98df\u7597\u6cd5\u3001\u8fd0\u52a8\u7597\u6cd5\u3001\u751f\u957f\u6fc0\u7d20\u8865\u5145\u7597\u6cd5\u3001\u6027\u6fc0\u7d20\u8865\u5145\u7597\u6cd5\u3001\u7cbe\u795e\u969c\u788d\u7684\u5e94\u5bf9\u3002\u6b64\u5916\uff0c\u7531\u4e8e\u667a\u529b\u53d1\u5c55\u7684\u5ef6\u8fdf\u5728\u4e2d\u5ea6\u6c34\u5e73\uff0c\u9002\u5f53\u7684\u652f\u63f4\u662f\u5fc5\u4e0d\u53ef\u5c11\u7684\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"c7\"><span class=\"ez-toc-section\" id=\"%E3%80%90%E6%A1%88%E4%BE%8B%E5%88%86%E6%9E%906%E3%80%91_%E5%AE%89%E5%90%89%E5%B0%94%E6%9B%BC%E7%BB%BC%E5%90%88%E7%97%87\"><\/span><strong>\u3010\u6848\u4f8b\u5206\u67906\u3011 \u5b89\u5409\u5c14\u66fc\u7efc\u5408\u75c7<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u5b89\u5409\u5c14\u66fc\u7efc\u5408\u75c7\u662f\u6307\u5177\u6709\u7cbe\u795e\u53d1\u80b2\u4e25\u91cd\u5ef6\u8fdf\u3001\u766b\u75eb\u3001\u5931\u8c03\u6027\u8fd0\u52a8\u969c\u788d\u6216\u56e0\u5c0f\u4e8b\u800c\u7ecf\u5e38\u5927\u7b11\u7b49\u7279\u5f81\u7684\u75be\u75c5\u3002\u636e\u8bf4\u5927\u7ea6<strong>\u6bcf15000\u4eba\u4e2d\u5c31\u67091\u4eba<\/strong>\u53d1\u75c5\uff0c\u5728\u65e5\u672c\u5df2\u786e\u8ba4\u7ea6\u6709500~1000\u540d\u60a3\u8005\u3002<\/p>\n\n\n\n<p>\u5728\u6b64,\u5c06\u4ecb\u7ecd\u53d1\u75c5\u7684\u539f\u56e0\u548c\u8be6\u7ec6\u7684\u75c7\u72b6\u3001\u6cbb\u7597\u65b9\u6cd5\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"c7-1\"><span class=\"ez-toc-section\" id=\"%E5%8E%9F%E5%9B%A0%E5%92%8C%E7%97%87%E7%8A%B6-6\"><\/span><strong>\u539f\u56e0\u548c\u75c7\u72b6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5176\u53d1\u75c5\u539f\u56e0\u662f\u4f4d\u4e8e15\u53f7\u67d3\u8272\u4f53\u77ed\u81c2q11-q13\u7684<strong>UBE3A\u57fa\u56e0<\/strong>\u529f\u80fd\u4e27\u5931\u3002\u57fa\u56e0\u529f\u80fd\u4e27\u5931\u7684\u539f\u56e0\u5305\u62ec15q11-q13\u6bcd\u4f53\u67d3\u8272\u4f53\u5fae\u7f3a\u5931\u300115\u53f7\u67d3\u8272\u4f53\u7236\u4f53\u5355\u4eb2\u6027\u4e8c\u500d\u4f53\u3001\u57fa\u56e0\u7ec4\u5370\u8bb0\u7f3a\u9677\u5bfc\u81f4\u5370\u8bb0\u5f02\u5e38\u3001UBE3A\u7a81\u53d8\u7b49\u3002<\/p>\n\n\n\n<p>\u4e3b\u8981\u75c7\u72b6\u4e3a\u4e25\u91cd\u7684\u7cbe\u795e\u53d1\u80b2\u8fdf\u7f13\u3001\u766b\u75eb\u3001\u5931\u8c03\u6027\u8fd0\u52a8\u969c\u788d\u3001\u56e0\u5c0f\u4e8b\u800c\u5927\u7b11\u7684\u884c\u4e3a\u5f02\u5e38\u3001\u7761\u7720\u969c\u788d\u3001\u7279\u5f81\u6027\u9762\u5bb9\u3001\u4f4e\u8272\u7d20\u75c7\u7b49\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"c7-2\"><span class=\"ez-toc-section\" id=\"%E6%B2%BB%E7%96%97%E6%96%B9%E6%B3%95-6\"><\/span><strong>\u6cbb\u7597\u65b9\u6cd5<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u76ee\u524d\u5c1a\u65e0\u6cbb\u7597\u67d3\u8272\u4f53\u5f02\u5e38\u7684\u65b9\u6cd5\u3002\u9700\u8981\u6839\u636e\u5404\u4e2a\u75c7\u72b6\u8fdb\u884c\u6cbb\u7597\u3002<\/p>\n\n\n\n<p>\u4e3e\u4f8b\u6765\u8bf4,\u901a\u8fc7\u5728\u9002\u5f53\u7684\u65f6\u673a\u670d\u7528\u6297\u766b\u75eb\u836f,\u80fd\u591f\u907f\u514d\u766b\u75eb\u53d1\u4f5c\u3002\u5bf9\u4e8e\u7761\u7720\u969c\u788d\uff0c\u4ee5\u5b89\u7720\u836f\u7b49\u5bf9\u5e94\u7597\u6cd5\u4e3a\u4e2d\u5fc3\u8fdb\u884c\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"c8\"><span class=\"ez-toc-section\" id=\"%E3%80%90%E6%A1%88%E4%BE%8B%E5%88%86%E6%9E%907%E3%80%91_5p%E7%BC%BA%E5%A4%B1%E7%BB%BC%E5%90%88%E7%97%87\"><\/span><strong>\u3010\u6848\u4f8b\u5206\u67907\u3011 5p\u7f3a\u5931\u7efc\u5408\u75c7<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>5p\u7f3a\u5931\u7efc\u5408\u75c7\u662f\u67d3\u8272\u4f53\u5f02\u5e38\u7efc\u5408\u75c7\u7684\u4e00\u79cd,<strong>15000~5\u4e07\u4eba\u4e2d\u5c31\u67091\u4eba<\/strong>\u53d1\u75c5\u3002\u6b64\u5916\uff0c\u51fa\u73b0\u7cbe\u795e\u53d1\u80b2\u8fdf\u7f13\u7684\u60a3\u8005\u6bd4\u4f8b\u7ea6\u4e3a\u6bcf350\u4eba\u4e2d\u5c31\u67091\u4eba\u3002<\/p>\n\n\n\n<p>\u5728\u6b64,\u5c06\u4ecb\u7ecd\u53d1\u75c5\u7684\u539f\u56e0\u548c\u8be6\u7ec6\u7684\u75c7\u72b6\u3001\u6cbb\u7597\u65b9\u6cd5\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"c8-1\"><span class=\"ez-toc-section\" id=\"%E5%8E%9F%E5%9B%A0%E5%92%8C%E7%97%87%E7%8A%B6-7\"><\/span><strong>\u539f\u56e0\u548c\u75c7\u72b6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u53d1\u75c5\u7684\u539f\u56e0\u5927\u591a\u662f\u7531\u4e8e<strong>5\u53f7\u67d3\u8272\u4f53\u77ed\u81c2\u7684\u90e8\u5206\u7f3a\u5931<\/strong>\u3002\u53e6\u5916\uff0c\u4e5f\u6709\u7f55\u89c1\u7684\u56e0\u4e0d\u5747\u8861\u578b\u76f8\u4e92\u6613\u4f4d\u3001\u7531\u4e24\u7cfb\u7edf\u7684\u7ed3\u6784\u5f02\u5e38\u5f15\u8d77\u7684\u67d3\u8272\u4f53\u5d4c\u5408\u4f53\u3001\u7531\u53cc\u4eb2\u4e2d\u4efb\u4f55\u4e00\u65b9\u7684\u67d3\u8272\u4f53\u9006\u4f4d\u5f15\u8d77\u7684\u7ed3\u6784\u5f02\u5e38\u7b49\u539f\u56e0\u800c\u53d1\u75c5\u3002<\/p>\n\n\n\n<p>\u5176\u4e3b\u8981\u75c7\u72b6\u662f\u51fa\u751f\u65f6\u4f53\u91cd\u4e0d\u8db3\u3001\u53d1\u80b2\u8fdf\u7f13\u3001\u8fd0\u52a8\u53d1\u80b2\u8fdf\u7f13\u3001\u4fbf\u79d8\u3001\u808c\u5f20\u529b\u4f4e\u4e0b\u7b49\u3002\u60a3\u8005\u53ef\u80fd\u51fa\u73b0\u4e0e\u5faa\u73af\u5668\u5b98\u3001\u547c\u5438\u5668\u5b98\u3001\u6d88\u5316\u5668\u5b98\u3001\u6ccc\u5c3f\u751f\u6b96\u7cfb\u7edf\u3001\u9aa8\u79d1\u548c\u7259\u79d1\u76f8\u5173\u7684\u75c7\u72b6\uff0c\u4f46\u5176\u7c7b\u578b\u548c\u9891\u7387\u56e0\u60a3\u8005\u800c\u5f02\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"c8-2\"><span class=\"ez-toc-section\" id=\"%E6%B2%BB%E7%96%97%E6%96%B9%E6%B3%95-7\"><\/span><strong>\u6cbb\u7597\u65b9\u6cd5<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u76ee\u524d\u5c1a\u65e0\u6cbb\u7597\u67d3\u8272\u4f53\u5f02\u5e38\u7684\u65b9\u6cd5\u3002\u5c06\u9488\u5bf9\u5e76\u53d1\u75c7\u8fdb\u884c\u4e0d\u540c\u7684\u6cbb\u7597\u3002<\/p>\n\n\n\n<p>\u56e0\u4e3a\u6bcf\u4e2a\u5e74\u9f84\u6bb5\u5e94\u8be5\u6ce8\u610f\u7684\u5e76\u53d1\u75c7\u90fd\u4f1a\u6709\u6240\u53d8\u5316,\u6240\u4ee5\u9700\u8981\u6839\u636e\u5404\u4e2a\u5e76\u53d1\u75c7\u8fdb\u884c\u6cbb\u7597\u548c\u5904\u7406\u3002\u4f8b\u5982\uff0c\u65b0\u751f\u513f\u9636\u6bb5\u5bb9\u6613\u51fa\u73b0\u547c\u5438\u9053\u75c7\u72b6\u548c\u54fa\u4e73\u95ee\u9898,\u56e0\u6b64\u4e3b\u8981\u6cbb\u7597\u751f\u957f\u969c\u788d\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"c9\"><span class=\"ez-toc-section\" id=\"Hiro%E8%AF%8A%E6%89%80NIPT%E5%8F%AF%E8%AF%8A%E6%96%AD%E5%87%BA4%E7%A7%8D%E5%BE%AE%E7%BC%BA%E5%A4%B1%E7%BB%BC%E5%90%88%E7%97%87\"><\/span><strong>Hiro\u8bca\u6240NIPT\u53ef\u8bca\u65ad\u51fa4\u79cd\u5fae\u7f3a\u5931\u7efc\u5408\u75c7<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u53ef\u901a\u8fc7\u65e9\u671fNIPT (\u65b0\u578b\u4ea7\u524d\u8bca\u65ad) \u68c0\u67e5\u53d1\u73b0\u5fae\u7f3a\u5931\u7efc\u5408\u75c7\u3002\u5728Hiro\u8bca\u6240NIPT\u4e2d,\u53ef\u8fdb\u884c4\u9879\u68c0\u67e5,\u5305\u62ec<strong>\u8fea\u4e54\u6cbb\u7efc\u5408\u75c7\u30011p36\u7f3a\u5931\u7efc\u5408\u75c7\u3001\u53f2\u5bc6\u65af-\u9a6c\u91d1\u5c3c\u65af\u7efc\u5408\u75c7\u3001\u6c83\u5c14\u592b\u5e0c\u5c14\u970d\u6069\u7efc\u5408\u75c7<\/strong>\u3002<\/p>\n\n\n\n<p>\u901a\u8fc7\u65e9\u671f\u68c0\u67e5\u53d1\u73b0,\u80fd\u591f\u5728\u5206\u5a29\u524d\u638c\u63e1\u80ce\u513f\u7684\u5f02\u5e38,\u5e76\u7740\u624b\u5206\u5a29\u65b9\u6cd5\u548c\u4ea7\u540e\u7684\u6cbb\u7597\u7684\u51c6\u5907\u3002<\/p>\n\n\n\n<p>\u6b64\u5916,\u5c3d\u65e9\u638c\u63e1\u53ef\u4ee5\u505a\u597d\u5fc3\u7406\u51c6\u5907\u3002\u4e3a\u8fdb\u884c\u9002\u5f53\u7684\u6cbb\u7597,\u4fc3\u4f7f\u5b69\u5b50\u5065\u5eb7\u6210\u957f,\u4e5f\u5229\u7528\u65e9\u671fNIPT\u68c0\u67e5\u5427\u3002<\/p>\n\n\n\n<p>\u3010\u53c2\u8003\u6587\u732e\u3011<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>MSD\u624b\u518c\u4e13\u4e1a\u7248 <a rel=\"noreferrer noopener\" href=\"https:\/\/www.msdmanuals.com\/ja-jp\/%E3%83%97%E3%83%AD%E3%83%95%E3%82%A7%E3%83%83%E3%82%B7%E3%83%A7%E3%83%8A%E3%83%AB\/19-%E5%B0%8F%E5%85%90%E7%A7%91\/%E6%9F%93%E8%89%B2%E4%BD%93%E7%95%B0%E5%B8%B8%E3%81%A8%E9%81%BA%E4%BC%9D%E5%AD%90%E7%95%B0%E5%B8%B8\/%E5%BE%AE%E5%B0%8F%E6%AC%A0%E5%A4%B1%E7%97%87%E5%80%99%E7%BE%A4%E3%81%8A%E3%82%88%E3%81%B3%E5%BE%AE%E5%B0%8F%E9%87%8D%E8%A4%87%E7%97%87%E5%80%99%E7%BE%A4\" target=\"_blank\">\u5fae\u7f3a\u5931\u7efc\u5408\u75c7\u548c\u5fae\u91cd\u590d\u7efc\u5408\u75c7<\/a><\/li>\n\n\n\n<li><a rel=\"noreferrer noopener\" href=\"https:\/\/nipt-center.jp\/%E5%BE%AE%E5%B0%8F%E6%AC%A0%E5%A4%B1%E7%97%87%E5%80%99%E7%BE%A4\/\" target=\"_blank\">NIPT\u68c0\u9a8c\u4e2d\u5fc3<\/a><\/li>\n\n\n\n<li><a rel=\"noreferrer noopener\" href=\"https:\/\/www.mhlw.go.jp\/content\/000783387.pdf\" target=\"_blank\">\u5173\u4e8eNIPT\u7b49\u4ea7\u524d\u68c0\u67e5\u7684\u4e13\u95e8\u59d4\u5458\u4f1a\u62a5\u544a\u4e66<\/a><\/li>\n\n\n\n<li><a rel=\"noreferrer noopener\" href=\"https:\/\/niptjapan.com\/nipt\/\" target=\"_blank\">NIPT Japan\u65b0\u578b\u4ea7\u524d\u8bca\u65ad (NIPT)<\/a><\/li>\n\n\n\n<li>\u96be\u6cbb\u6027\u75be\u75c5\u60c5\u62a5\u4e2d\u5fc3 <a rel=\"noreferrer noopener\" href=\"https:\/\/www.nanbyou.or.jp\/entry\/5317\" target=\"_blank\">22q11.2\u7f3a\u5931\u7efc\u5408\u75c7<\/a><\/li>\n\n\n\n<li>\u513f\u7ae5\u6162\u6027\u75be\u75c5\u4fe1\u606f\u4e2d\u5fc3 <a rel=\"noreferrer noopener\" href=\"https:\/\/www.shouman.jp\/disease\/details\/10_02_019\/\" target=\"_blank\">\u80f8\u817a\u53d1\u80b2\u4e0d\u5168 \u8fea\u4e54\u6cbb\u7efc\u5408\u75c7<\/a><\/li>\n\n\n\n<li>\u539a\u751f\u52b3\u52a8\u7701 <a rel=\"noreferrer noopener\" href=\"https:\/\/www.mhlw.go.jp\/file\/06-Seisakujouhou-10900000-Kenkoukyoku\/0000085444.pdf\" target=\"_blank\">1p36\u7f3a\u5931\u7efc\u5408\u75c7<\/a><\/li>\n\n\n\n<li>\u96be\u6cbb\u6027\u75be\u75c5\u60c5\u62a5\u4e2d\u5fc3 <a rel=\"noreferrer noopener\" href=\"https:\/\/www.nanbyou.or.jp\/entry\/4495\" target=\"_blank\">1p36\u7f3a\u5931\u7efc\u5408\u75c7<\/a><\/li>\n\n\n\n<li>\u539a\u751f\u52b3\u52a8\u7701 <a rel=\"noreferrer noopener\" href=\"https:\/\/www.mhlw.go.jp\/file\/06-Seisakujouhou-10900000-Kenkoukyoku\/0000101144.pdf\" target=\"_blank\">\u53f2\u5bc6\u65af-\u9a6c\u91d1\u5c3c\u65af\u7efc\u5408\u75c7<\/a><\/li>\n\n\n\n<li>\u96be\u6cbb\u6027\u75be\u75c5\u60c5\u62a5\u4e2d\u5fc3 <a rel=\"noreferrer noopener\" href=\"https:\/\/www.nanbyou.or.jp\/entry\/4853\" target=\"_blank\">\u53f2\u5bc6\u65af-\u9a6c\u91d1\u5c3c\u65af\u7efc\u5408\u75c7<\/a><\/li>\n\n\n\n<li>\u513f\u7ae5\u6162\u6027\u75be\u75c5\u4fe1\u606f\u4e2d\u5fc3 <a rel=\"noreferrer noopener\" href=\"https:\/\/www.shouman.jp\/disease\/details\/13_01_003\/\" target=\"_blank\">\u53f2\u5bc6\u65af-\u9a6c\u91d1\u5c3c\u65af<a href=\"https:\/\/www.shouman.jp\/disease\/details\/13_01_003\/\">\uff08Smith-Magenis\uff09<\/a>\u7efc\u5408\u75c7<\/a><\/li>\n\n\n\n<li>\u539a\u751f\u52b3\u52a8\u7701 <a rel=\"noreferrer noopener\" href=\"https:\/\/www.mhlw.go.jp\/file\/06-Seisakujouhou-10900000-Kenkoukyoku\/0000101247.pdf\" target=\"_blank\">4p\u7f3a\u5931\u7efc\u5408\u75c7<\/a><\/li>\n\n\n\n<li>\u96be\u6cbb\u6027\u75be\u75c5\u60c5\u62a5\u4e2d\u5fc3 <a rel=\"noreferrer noopener\" href=\"https:\/\/www.nanbyou.or.jp\/entry\/4804\" target=\"_blank\">4p\u7f3a\u5931\u7efc\u5408\u75c7<\/a><\/li>\n\n\n\n<li>\u539a\u751f\u52b3\u52a8\u7701 <a rel=\"noreferrer noopener\" href=\"https:\/\/www.mhlw.go.jp\/file\/06-Seisakujouhou-10900000-Kenkoukyoku\/0000085440.pdf\" target=\"_blank\">\u666e\u62c9\u5fb7\u5a01\u5229\u7efc\u5408\u75c7<\/a><\/li>\n\n\n\n<li>\u96be\u6cbb\u6027\u75be\u75c5\u60c5\u62a5\u4e2d\u5fc3 <a rel=\"noreferrer noopener\" href=\"https:\/\/www.nanbyou.or.jp\/entry\/4768\" target=\"_blank\">\u666e\u62c9\u5fb7\u5a01\u5229\u7efc\u5408\u75c7<\/a><\/li>\n\n\n\n<li>\u539a\u751f\u52b3\u52a8\u7701 <a rel=\"noreferrer noopener\" href=\"https:\/\/www.mhlw.go.jp\/file\/06-Seisakujouhou-10900000-Kenkoukyoku\/0000101031.pdf\" target=\"_blank\">\u5b89\u5409\u5c14\u66fc\u7efc\u5408\u75c7<\/a><\/li>\n\n\n\n<li>\u96be\u6cbb\u6027\u75be\u75c5\u60c5\u62a5\u4e2d\u5fc3 <a rel=\"noreferrer noopener\" href=\"https:\/\/www.nanbyou.or.jp\/entry\/4771\" target=\"_blank\">\u5b89\u5409\u5c14\u66fc\u7efc\u5408\u75c7<\/a><\/li>\n\n\n\n<li>\u96be\u6cbb\u6027\u75be\u75c5\u60c5\u62a5\u4e2d\u5fc3 <a rel=\"noreferrer noopener\" href=\"https:\/\/www.nanbyou.or.jp\/entry\/4862\" target=\"_blank\">5p\u7f3a\u5931\u7efc\u5408\u75c7<\/a><\/li>\n\n\n\n<li>\u539a\u751f\u52b3\u52a8\u7701 <a rel=\"noreferrer noopener\" href=\"https:\/\/www.mhlw.go.jp\/file\/06-Seisakujouhou-10900000-Kenkoukyoku\/0000101118.pdf\" target=\"_blank\">5p\u7f3a\u5931\u7efc\u5408\u75c7<\/a><\/li>\n<\/ul>\n\n\n\n<p><\/p>\n","protected":false},"excerpt":{"rendered":"\u672c\u6587\u6458\u8981 \u4e3a\u4e86\u5c3d\u65e9\u53d1\u73b0\u5fae\u7f3a\u5931\u7efc\u5408\u75c7, N&#8230;\n <a 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