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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/15q13-3-deletion-syndrome-bp4-to-bp5-gain\/?lang=zh-hans\/#Q_%E7%8A%B9%E8%B1%AB%E8%A6%81%E4%B8%8D%E8%A6%81%E5%81%9A%E4%BA%A7%E5%89%8D%E6%A3%80%E6%B5%8B%EF%BC%8C%E8%AF%A5%E6%80%8E%E4%B9%88%E5%8A%9E%EF%BC%9F\" >Q. \u72b9\u8c6b\u8981\u4e0d\u8981\u505a\u4ea7\u524d\u68c0\u6d4b\uff0c\u8be5\u600e\u4e48\u529e\uff1f<\/a><\/li><\/ul><\/li><\/ul><\/nav><\/div>\n<h2 style=\"margin-top:1rem;\"><span class=\"ez-toc-section\" id=\"%E6%9C%AC%E6%96%87%E6%8F%90%E8%A6%81\"><\/span>\u672c\u6587\u63d0\u8981<span class=\"ez-toc-section-end\"><\/span><\/h2><p><strong>15q13.3\u7f3a\u5931\u7efc\u5408\u5f81\u662f\u4e00\u79cd\u975e\u5e38\u7f55\u89c1\u7684\u67d3\u8272\u4f53\u5f02\u5e38\uff0c\u753115\u53f7\u67d3\u8272\u4f53\u957f\u81c2q13.3\u533a\u57df\u4e2dBP4\u81f3BP5\u8303\u56f4\u5185\u7684\u9057\u4f20\u7269\u8d28\u4e22\u5931\u6240\u81f4\u3002<\/strong>\u76ee\u524d\u8ba4\u4e3a\u81f4\u75c5\u57fa\u56e0\u4e3b\u8981\u662fCHRNA7\uff0c\u53ef\u80fd\u51fa\u73b0\u766b\u75eb\u3001\u667a\u529b\u969c\u788d\u3001\u5b64\u72ec\u75c7\u8c31\u7cfb\u969c\u788d\uff08\u81ea\u95ed\u75c7\u8c31\u7cfb\u969c\u788d\uff09\u4ee5\u53ca\u7cbe\u795e\u75be\u75c5\u98ce\u9669\u5347\u9ad8\u7b49\u8868\u73b0\uff0c\u4f46\u75c7\u72b6\u7684\u51fa\u73b0\u65b9\u5f0f\u56e0\u4eba\u800c\u5f02\uff0c\u4e2a\u4f53\u5dee\u5f02\u975e\u5e38\u5927\u3002\u5373\u4f7f\u643a\u5e26\u5b8c\u5168\u76f8\u540c\u7684\u7f3a\u5931\uff0c\u4e5f\u6709\u4eba\u51e0\u4e4e\u6ca1\u6709\u4efb\u4f55\u75c7\u72b6\uff0c\u8fd9\u79cd&#8221;\u4e0d\u5b8c\u5168\u5916\u663e&#8221;\u662f\u672c\u75c5\u7684\u7279\u5f81\u4e4b\u4e00\u3002\u786e\u8bca\u9700\u8981\u4f9d\u9760\u67d3\u8272\u4f53\u5fae\u9635\u5217\u68c0\u6d4b\uff0c\u672c\u75c5\u5e76\u975e\u5e38\u89c4NIPT\uff08\u65e0\u521b\u4ea7\u524d\u68c0\u6d4b\uff09\u7684\u7b5b\u67e5\u5bf9\u8c61\uff0c\u4ea7\u524d\u786e\u8bca\u987b\u901a\u8fc7\u7f8a\u6c34\u7a7f\u523a\u6216\u7ed2\u6bdb\u53d6\u6837\u3002\u53e6\u5916\u8fd8\u5b58\u5728\u540c\u4e00\u533a\u57df\u9057\u4f20\u7269\u8d28\u589e\u591a\u7684&#8221;\u91cd\u590d\u7efc\u5408\u5f81&#8221;\uff0c\u5c5e\u4e8e\u53e6\u4e00\u79cd\u75be\u75c5\uff0c\u672c\u6587\u5c06\u533a\u5206\u7f3a\u5931\uff08loss\uff09\u4e0e\u91cd\u590d\uff08gain\uff09\uff0c\u907f\u514d\u6df7\u6dc6\u3002<\/p><\/div>\n\n\n\n<div style=\"border:1px solid #e8608a;border-radius:8px;background:#fff5f8;padding:4% 5%;margin:1rem 0 2.5rem;\">\n<p style=\"font-weight:bold;font-size:1.05em;margin-top:0;\">\u672c\u6587\u8981\u70b9<\/p>\n<ul style=\"margin-bottom:0;\">\n<li>\u4ec0\u4e48\u662f15q13.3\u7f3a\u5931\u7efc\u5408\u5f81\uff0c\u4ee5\u53ca\u5b83\u4e0eCHRNA7\u57fa\u56e0\u7684\u5173\u7cfb<\/li>\n<li>\u766b\u75eb\u3001\u667a\u529b\u969c\u788d\u3001\u5b64\u72ec\u75c7\u8c31\u7cfb\u969c\u788d\u7b49\u4e3b\u8981\u75c7\u72b6\u7684\u6574\u4f53\u60c5\u51b5\u53ca\u4e2a\u4f53\u5dee\u5f02<\/li>\n<li>\u7f3a\u5931\uff08deletion\uff0floss\uff09\u4e0e\u91cd\u590d\uff08duplication\uff0fgain\uff09\u7684\u533a\u522b\uff0c\u907f\u514d\u6df7\u6dc6\u7684\u8981\u70b9<\/li>\n<li>\u672c\u75c5\u4e0eNIPT\u7684\u5173\u7cfb\uff0c\u4ee5\u53ca\u901a\u8fc7\u67d3\u8272\u4f53\u5fae\u9635\u5217\u68c0\u6d4b\u786e\u8bca\u7684\u6d41\u7a0b<\/li>\n<li>\u766b\u75eb\u7ba1\u7406\u3001\u5eb7\u590d\u8bad\u7ec3\uff0c\u4ee5\u53ca\u5bb6\u5ead\u53ef\u4ee5\u6c42\u52a9\u7684\u54a8\u8be2\u6e20\u9053<\/li>\n<\/ul>\n<\/div>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%BB%80%E4%B9%88%E6%98%AF15q133%E7%BC%BA%E5%A4%B1%E7%BB%BC%E5%90%88%E5%BE%81\"><\/span>\u4ec0\u4e48\u662f15q13.3\u7f3a\u5931\u7efc\u5408\u5f81<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>15q13.3\u7f3a\u5931\u7efc\u5408\u5f81\u662f\u4e00\u79cd\u975e\u5e38\u7f55\u89c1\u7684\u5148\u5929\u6027\u75be\u75c5\uff0c\u753115\u53f7\u67d3\u8272\u4f53\u957f\u81c2q13.3\u533a\u57df\u4e2dBP4\u81f3BP5\u8303\u56f4\u5185\u7684\u90e8\u5206\u9057\u4f20\u7269\u8d28\u4e22\u5931\u6240\u81f4\u3002<\/strong>\u8be5\u533a\u57df\u5305\u542bMTMR15\u3001TRPM1\u3001MTMR10\u3001KLF13\u3001OTUD7A\u3001CHRNA7\u51716\u4e2a\u57fa\u56e0\uff0c\u5176\u4e2dCHRNA7\u7684\u529f\u80fd\u88ab\u8ba4\u4e3a\u4e0e\u75c7\u72b6\u5173\u7cfb\u6700\u4e3a\u5bc6\u5207\u3002\u6211\u4eec\u5148\u6765\u4e86\u89e3\u8fd9\u79cd\u75be\u75c5\u7684\u6574\u4f53\u60c5\u51b5\u3002<\/p>\n\n\n\n<p>&#8220;\u5fae\u7f3a\u5931&#8221;\u662f\u6307\u67d3\u8272\u4f53\u4e0a\u6781\u5c0f\u8303\u56f4\u7684\u9057\u4f20\u7269\u8d28\u4e22\u5931\u3002\u4f20\u7edf\u7684\u663e\u5fae\u955c\u67d3\u8272\u4f53\u68c0\u67e5\u5f80\u5f80\u96be\u4ee5\u53d1\u73b0\uff0c\u901a\u5e38\u9700\u8981\u66f4\u7cbe\u7ec6\u7684\u68c0\u6d4b\u624b\u6bb5\u624d\u80fd\u786e\u8ba4\u3002&#8221;BP4&#8243;&#8221;BP5&#8243;\u662f\u6807\u793a\u8be5\u533a\u57df\u65ad\u70b9\u4f4d\u7f6e\u7684\u540d\u79f0\u3002\u5373\u4f7f\u540c\u6837\u662fBP4-BP5\u8303\u56f4\u7684\u7f3a\u5931\uff0c\u5b9e\u9645\u7f3a\u5931\u7684\u5927\u5c0f\u4e5f\u56e0\u4eba\u800c\u5f02\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%BF%99%E7%A7%8D%E7%96%BE%E7%97%85%E6%9C%89%E5%A4%9A%E7%BD%95%E8%A7%81\"><\/span><strong>\u8fd9\u79cd\u75be\u75c5\u6709\u591a\u7f55\u89c1<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5728\u666e\u901a\u4eba\u7fa4\u4e2d\uff0c15q13.3\u7f3a\u5931\u7efc\u5408\u5f81\u6781\u4e3a\u7f55\u89c1\uff0c\u76ee\u524d\u5c1a\u65e0\u660e\u786e\u7684\u53d1\u75c5\u7387\u6570\u636e\u3002\u4e0d\u8fc7\uff0c\u5728\u7279\u53d1\u6027\u5168\u9762\u6027\u766b\u75eb\uff08\u4e00\u79cd\u766b\u75eb\u7c7b\u578b\uff09\u60a3\u8005\u4e2d\u5f00\u5c55\u7684\u7814\u7a76\u663e\u793a\uff0c\u4e0e\u5065\u5eb7\u5bf9\u7167\u7ec4\u76f8\u6bd4\uff0c\u8fd9\u4e00\u7f3a\u5931\u7684\u68c0\u51fa\u7387\u660e\u663e\u66f4\u9ad8\u3002\u65e5\u672c\u7684\u8bca\u65ad\u6807\u51c6\u8349\u6848\u4e2d\u4e5f\u6307\u51fa\uff0c\u534a\u6570\u4ee5\u4e0a\u75c5\u4f8b\u5b58\u5728\u667a\u529b\u969c\u788d\uff0c\u7ea628%\u5b58\u5728\u60ca\u53a5\u53d1\u4f5c\u3002<\/p>\n\n\n\n<p>\u5355\u770b\u6570\u5b57\u6216\u8bb8\u4f1a\u8ba9\u4eba\u4e0d\u5b89\uff0c\u4f46\u8fd9\u79cd\u75be\u75c5\u7684\u4e00\u4e2a\u7279\u70b9\u662f\uff0c\u4e5f\u6709\u76f8\u5f53\u4e00\u90e8\u5206\u4eba\u5b8c\u5168\u6ca1\u6709\u75c7\u72b6\u3002\u53ef\u4ee5\u8fd9\u6837\u7406\u89e3\uff1a\u8fd9\u79cd\u75be\u75c5\u7f55\u89c1\u5230\u96be\u4ee5\u51c6\u786e\u7edf\u8ba1\u53d1\u75c5\u7387\uff0c\u540c\u65f6\u4e2a\u4f53\u5dee\u5f02\u53c8\u975e\u5e38\u5927\u2014\u2014\u628a\u63e1\u4f4f\u8fd9\u4e24\u70b9\uff0c\u6709\u52a9\u4e8e\u66f4\u5e73\u9759\u5730\u9762\u5bf9\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%B8%8D%E8%A6%81%E6%B7%B7%E6%B7%86%E7%BC%BA%E5%A4%B1%EF%BC%88loss%EF%BC%89%E4%B8%8E%E9%87%8D%E5%A4%8D%EF%BC%88gain%EF%BC%89\"><\/span><strong>\u4e0d\u8981\u6df7\u6dc6\u7f3a\u5931\uff08loss\uff09\u4e0e\u91cd\u590d\uff08gain\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u67d3\u8272\u4f53\u7684\u53d8\u5316\u5927\u81f4\u5206\u4e3a\u4e24\u7c7b\uff1a\u7f3a\u5931\u548c\u91cd\u590d\u3002\u7f3a\u5931\uff08deletion\uff0floss\uff09\u662f\u6307\u9057\u4f20\u7269\u8d28\u4e22\u5931\uff0c\u91cd\u590d\uff08duplication\uff0fgain\uff09\u662f\u6307\u9057\u4f20\u7269\u8d28\u589e\u591a\u3002\u5373\u4f7f\u540c\u6837\u662f15q13.3\u7684BP4-BP5\u8303\u56f4\uff0c\u7f3a\u5931\u548c\u91cd\u590d\u4e5f\u88ab\u89c6\u4e3a\u5b8c\u5168\u4e0d\u540c\u7684\u4e24\u79cd\u75be\u75c5\u3002<\/p>\n\n\n\n<p>\u672c\u6587\u4ecb\u7ecd\u768415q13.3\u7f3a\u5931\u7efc\u5408\u5f81\u5c5e\u4e8e\u9057\u4f20\u7269\u8d28&#8221;\u4e22\u5931&#8221;\uff08loss\uff09\u7684\u7c7b\u578b\u3002\u800c\u540c\u4e00\u533a\u57df\u9057\u4f20\u7269\u8d28&#8221;\u589e\u591a&#8221;\uff08gain\uff09\u7684\u7c7b\u578b\uff0c\u5219\u662f\u53e6\u4e00\u79cd\u75be\u75c5\u2014\u201415q13.3\u91cd\u590d\u7efc\u5408\u5f81\uff08\u8be6\u89c1\u65e5\u6587\u5173\u8054\u6587\u7ae0\uff1a<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/15q13-3-duplication-syndrome-bp4-to-bp5-gain\/\">15q13.3\u91cd\u590d\u7efc\u5408\u5f81<\/a>\uff09\u3002\u76f8\u6bd4\u7f3a\u5931\u7efc\u5408\u5f81\uff0c\u91cd\u590d\u7efc\u5408\u5f81\u7684\u75c7\u72b6\u8868\u73b0\u66f4\u4e3a\u591a\u6837\uff0c\u4e5f\u6709\u4e0d\u5c11\u4eba\u5b8c\u5168\u6ca1\u6709\u75c7\u72b6\u3002\u60a8\u6216\u5b69\u5b50\u7684\u68c0\u6d4b\u62a5\u544a\u4e2d\u6807\u6ce8\u7684\u662f&#8221;\u7f3a\u5931&#8221;\u8fd8\u662f&#8221;\u91cd\u590d&#8221;\uff0c\u8bf7\u52a1\u5fc5\u4ed4\u7ec6\u786e\u8ba4\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%B8%BB%E8%A6%81%E7%97%87%E7%8A%B6%E2%80%94%E2%80%94%E7%99%AB%E7%97%AB%E3%80%81%E6%99%BA%E5%8A%9B%E9%9A%9C%E7%A2%8D%E3%80%81%E5%AD%A4%E7%8B%AC%E7%97%87%E8%B0%B1%E7%B3%BB%E9%9A%9C%E7%A2%8D\"><\/span>\u4e3b\u8981\u75c7\u72b6\u2014\u2014\u766b\u75eb\u3001\u667a\u529b\u969c\u788d\u3001\u5b64\u72ec\u75c7\u8c31\u7cfb\u969c\u788d<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>15q13.3\u7f3a\u5931\u7efc\u5408\u5f81\u7684\u4e3b\u8981\u8868\u73b0\u5305\u62ec\u766b\u75eb\u3001\u667a\u529b\u969c\u788d\u6216\u53d1\u80b2\u8fdf\u7f13\u3001\u5b64\u72ec\u75c7\u8c31\u7cfb\u969c\u788d\uff0c\u4ee5\u53ca\u7cbe\u795e\u5206\u88c2\u75c7\u3001\u53cc\u76f8\u60c5\u611f\u969c\u788d\u7b49\u7cbe\u795e\u75be\u75c5\u98ce\u9669\u5347\u9ad8\uff0c\u75c7\u72b6\u7684\u7ec4\u5408\u65b9\u5f0f\u548c\u4e25\u91cd\u7a0b\u5ea6\u56e0\u4eba\u800c\u5f02\uff0c\u4e2a\u4f53\u5dee\u5f02\u975e\u5e38\u5927\u3002<\/strong>\u5e76\u975e\u6240\u6709\u75c7\u72b6\u90fd\u4f1a\u540c\u65f6\u51fa\u73b0\uff0c\u4e5f\u6709\u4eba\u5b8c\u5168\u6ca1\u6709\u660e\u663e\u75c7\u72b6\u3002\u4e0b\u9762\u68b3\u7406\u51e0\u79cd\u5e38\u89c1\u8868\u73b0\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%99%AB%E7%97%AB%EF%BC%88%E4%B8%8E%E7%89%B9%E5%8F%91%E6%80%A7%E5%85%A8%E9%9D%A2%E6%80%A7%E7%99%AB%E7%97%AB%E7%9A%84%E5%85%B3%E8%81%94%EF%BC%89\"><\/span><strong>\u766b\u75eb\uff08\u4e0e\u7279\u53d1\u6027\u5168\u9762\u6027\u766b\u75eb\u7684\u5173\u8054\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u766b\u75eb\u662f\u76ee\u524d\u7814\u7a76\u8f83\u4e3a\u6df1\u5165\u7684\u75c7\u72b6\u4e4b\u4e00\u3002\u9488\u5bf9\u7279\u53d1\u6027\u5168\u9762\u6027\u766b\u75eb\u60a3\u8005\u7684\u7814\u7a76\u663e\u793a\uff0c\u4e0e\u5065\u5eb7\u4eba\u7fa4\u76f8\u6bd4\uff0c15q13.3\u7f3a\u5931\u7684\u68c0\u51fa\u7387\u660e\u663e\u66f4\u9ad8\u3002\u53d1\u4f5c\u7c7b\u578b\u548c\u4e25\u91cd\u7a0b\u5ea6\u56e0\u4eba\u800c\u5f02\uff0c\u5dee\u5f02\u8f83\u5927\u3002<\/p>\n\n\n\n<p>\u5982\u679c\u53d1\u73b0\u766b\u75eb\uff0c\u901a\u5e38\u4f1a\u4e0e\u5c0f\u513f\u795e\u7ecf\u79d1\u6216\u795e\u7ecf\u5185\u79d1\u5408\u4f5c\uff0c\u6839\u636e\u53d1\u4f5c\u7c7b\u578b\u4f7f\u7528\u6297\u766b\u75eb\u836f\u7269\u8fdb\u884c\u6cbb\u7597\u3002\u8bb0\u5f55\u53d1\u4f5c\u60c5\u51b5\u6709\u52a9\u4e8e\u6bcf\u6b21\u5c31\u8bca\u65f6\u4e0e\u533b\u751f\u66f4\u597d\u5730\u6c9f\u901a\u75c5\u60c5\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%99%BA%E5%8A%9B%E9%9A%9C%E7%A2%8D%E3%80%81%E5%8F%91%E8%82%B2%E8%BF%9F%E7%BC%93%E3%80%81%E5%AD%A4%E7%8B%AC%E7%97%87%E8%B0%B1%E7%B3%BB%E9%9A%9C%E7%A2%8D\"><\/span><strong>\u667a\u529b\u969c\u788d\u3001\u53d1\u80b2\u8fdf\u7f13\u3001\u5b64\u72ec\u75c7\u8c31\u7cfb\u969c\u788d<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u636e\u62a5\u544a\uff0c\u534a\u6570\u4ee5\u4e0a\u75c5\u4f8b\u5b58\u5728\u667a\u529b\u53d1\u80b2\u8fdf\u7f13\uff0c\u7a0b\u5ea6\u4ee5\u8f7b\u5ea6\u81f3\u4e2d\u5ea6\u4e3a\u4e3b\uff0c\u4f46\u4e5f\u6709\u90e8\u5206\u4eba\u7684\u667a\u529b\u53d1\u80b2\u57fa\u672c\u5904\u4e8e\u6b63\u5e38\u8303\u56f4\u3002\u8bed\u8a00\u548c\u6c9f\u901a\u80fd\u529b\u53d1\u80b2\u8f83\u6162\u7684\u503e\u5411\u4e5f\u6709\u62a5\u9053\u3002<\/p>\n\n\n\n<p>\u90e8\u5206\u60a3\u8005\u53ef\u80fd\u51fa\u73b0\u4e0e\u5b64\u72ec\u75c7\u8c31\u7cfb\u969c\u788d\u76f8\u5173\u7684\u793e\u4ea4\u6c9f\u901a\u7279\u5f81\u3002\u5173\u4e8e\u667a\u529b\u53d1\u80b2\u4e0e\u598a\u5a20\u76f8\u5173\u95ee\u9898\u7684\u6574\u4f53\u60c5\u51b5\uff0c\u4e5f\u53ef\u53c2\u8003\u6211\u4eec\u7684\u65e5\u6587\u5173\u8054\u6587\u7ae0<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/intellectual-disability-risk-pregnancy\/\">\u667a\u529b\u969c\u788d\u98ce\u9669\u4e0e\u598a\u5a20<\/a>\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%B2%BE%E7%A5%9E%E7%96%BE%E7%97%85%E9%A3%8E%E9%99%A9%EF%BC%8C%E4%BB%A5%E5%8F%8A%E5%8F%AF%E8%83%BD%E5%AE%8C%E5%85%A8%E6%B2%A1%E6%9C%89%E7%97%87%E7%8A%B6\"><\/span><strong>\u7cbe\u795e\u75be\u75c5\u98ce\u9669\uff0c\u4ee5\u53ca\u53ef\u80fd\u5b8c\u5168\u6ca1\u6709\u75c7\u72b6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u636e\u62a5\u544a\uff0c\u6210\u5e74\u4ee5\u540e\uff0c\u7cbe\u795e\u5206\u88c2\u75c7\u3001\u53cc\u76f8\u60c5\u611f\u969c\u788d\u7b49\u7cbe\u795e\u75be\u75c5\u7684\u98ce\u9669\u4f1a\u6709\u6240\u5347\u9ad8\u3002\u4f46\u8fd9\u5e76\u4e0d\u610f\u5473\u7740&#8221;\u4e00\u5b9a\u4f1a\u53d1\u75c5&#8221;\u3002\u6301\u7eed\u7684\u957f\u671f\u89c2\u5bdf\uff0c\u4ee5\u53ca\u4e00\u65e6\u53d1\u73b0\u5f02\u5e38\u53d8\u5316\u5c31\u80fd\u53ca\u65f6\u6c42\u52a9\u7684\u652f\u6301\u4f53\u7cfb\uff0c\u4f1a\u662f\u5f88\u5927\u7684\u5e2e\u52a9\u3002<\/p>\n\n\n\n<p>\u8fd9\u91cc\u9700\u8981\u7406\u89e3\u4e00\u4e2a\u91cd\u8981\u6982\u5ff5\u2014\u2014&#8221;\u4e0d\u5b8c\u5168\u5916\u663e&#8221;\u3002\u5373\u4f7f\u643a\u5e26\u5b8c\u5168\u76f8\u540c\u7684\u7f3a\u5931\uff0c\u4e5f\u6709\u76f8\u5f53\u4e00\u90e8\u5206\u4eba\u5b8c\u5168\u6ca1\u6709\u660e\u663e\u75c7\u72b6\u3002\u8fd9\u79cd\u5de8\u5927\u7684\u4e2a\u4f53\u5dee\u5f02\uff0c\u65e2\u662f\u7406\u89e315q13.3\u7f3a\u5931\u7efc\u5408\u5f81\u7684\u96be\u70b9\uff0c\u4e5f\u662f\u5e26\u6765\u5e0c\u671b\u7684\u4e00\u9762\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%97%85%E5%9B%A0%E2%80%94%E2%80%94CHRNA7%E5%9F%BA%E5%9B%A0%E4%B8%8E%E4%B8%8D%E5%AE%8C%E5%85%A8%E5%A4%96%E6%98%BE\"><\/span>\u75c5\u56e0\u2014\u2014CHRNA7\u57fa\u56e0\u4e0e\u4e0d\u5b8c\u5168\u5916\u663e<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>15q13.3\u7f3a\u5931\u7efc\u5408\u5f81\u7684\u75c7\u72b6\uff0c\u88ab\u8ba4\u4e3a\u4e0e\u7f16\u7801\u5927\u8111\u5185\u70df\u78b1\u578b\u4e59\u9170\u80c6\u78b1\u53d7\u4f53\uff08\u03b17\u4e9a\u57fa\uff09\u7684CHRNA7\u57fa\u56e0\u529f\u80fd\u4e0b\u964d\u5bc6\u5207\u76f8\u5173\u3002<\/strong>\u7f3a\u5931\u533a\u57df\u5185\u867d\u7136\u8fd8\u5305\u542b\u5176\u4ed6\u51e0\u4e2a\u57fa\u56e0\uff0c\u4f46CHRNA7\u57fa\u56e0\u5242\u91cf\u4e0d\u8db3\uff08\u5355\u500d\u5242\u91cf\u4e0d\u8db3\uff09\u88ab\u8ba4\u4e3a\u662f\u5bfc\u81f4\u75c7\u72b6\u7684\u4e3b\u8981\u539f\u56e0\u3002<\/p>\n\n\n\n<p>\u9057\u4f20\u65b9\u5f0f\u5c5e\u4e8e\u5e38\u67d3\u8272\u4f53\u663e\u6027\u9057\u4f20\uff08\u5916\u663e\u7387\u4e0d\u5b8c\u5168\uff09\u3002\u636e\u62a5\u544a\uff0c\u7ea675%\u7684\u7f3a\u5931\u9057\u4f20\u81ea\u7236\u6bcd\u4e00\u65b9\uff0c\u800c\u8be5\u5bb6\u957f\u5f80\u5f80\u6ca1\u6709\u660e\u663e\u75c7\u72b6\uff0c\u6216\u75c7\u72b6\u6781\u8f7b\u5fae\u3002\u5176\u4f59\u75c5\u4f8b\u5219\u662f\u5728\u7cbe\u5b50\u6216\u5375\u5b50\u5f62\u6210\u7b49\u8fc7\u7a0b\u4e2d\u65b0\u53d1\u751f\u7684\u53d8\u5316\uff08\u65b0\u751f\u7a81\u53d8\uff09\u3002<\/p>\n\n\n\n<p>\u5728\u9057\u4f20\u54a8\u8be2\u73b0\u573a\uff0c\u6211\u591a\u6b21\u9047\u5230\u81ea\u8d23\u7684\u7236\u6bcd\uff0c\u8ba4\u4e3a&#8221;\u662f\u4e0d\u662f\u56e0\u4e3a\u81ea\u5df1\uff0c\u5b69\u5b50\u624d\u51fa\u73b0\u4e25\u91cd\u75c7\u72b6&#8221;\u3002\u4f46\u6b63\u56e0\u4e3a\u5916\u663e\u7387\u4e0d\u5b8c\u5168\uff0c\u6ca1\u6709\u75c7\u72b6\u7684\u7236\u6bcd\u4e5f\u5b8c\u5168\u53ef\u80fd\u751f\u4e0b\u75c7\u72b6\u66f4\u660e\u663e\u7684\u5b69\u5b50\u3002\u8fd9\u4e0d\u662f\u4efb\u4f55\u4eba\u7684\u8fc7\u9519\uff0c\u53ea\u662f\u8fd9\u79cd\u9057\u4f20\u65b9\u5f0f\u672c\u8eab\u7684\u7279\u70b9\u3002<\/p>\n\n\n\n<p>\u5982\u679c\u5e0c\u671b\u4e3a\u4eca\u540e\u7684\u751f\u80b2\u8ba1\u5212\u505a\u597d\u51c6\u5907\uff0c\u53ef\u4ee5\u901a\u8fc7\u5bf9\u7236\u6bcd\u53cc\u65b9\u8fdb\u884c\u67d3\u8272\u4f53\u5fae\u9635\u5217\u68c0\u6d4b\uff0c\u786e\u8ba4\u7f3a\u5931\u662f\u9057\u4f20\u6240\u81f4\u8fd8\u662f\u65b0\u751f\u7a81\u53d8\u3002\u5982\u6709\u987e\u8651\uff0c\u8bf7\u901a\u8fc7\u9057\u4f20\u54a8\u8be2\u5411\u4e13\u5bb6\u54a8\u8be2\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%AF%8A%E6%96%AD%E2%80%94%E2%80%94%E9%80%9A%E8%BF%87%E6%9F%93%E8%89%B2%E4%BD%93%E5%BE%AE%E9%98%B5%E5%88%97%E6%A3%80%E6%B5%8B%E7%A1%AE%E8%AF%8A\"><\/span>\u8bca\u65ad\u2014\u2014\u901a\u8fc7\u67d3\u8272\u4f53\u5fae\u9635\u5217\u68c0\u6d4b\u786e\u8bca<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>15q13.3\u7f3a\u5931\u7efc\u5408\u5f81\u7684\u8bca\u65ad\uff0c\u9700\u8981\u901a\u8fc7\u67d3\u8272\u4f53\u5fae\u9635\u5217\u68c0\u6d4b\u6765\u786e\u5b9a\uff0c\u8be5\u68c0\u6d4b\u53ef\u4ee5\u53d1\u73b0\u67d3\u8272\u4f53\u4e0a\u6781\u5c0f\u7684\u7f3a\u5931\u6216\u91cd\u590d\u3002<\/strong>\u4f20\u7edf\u663e\u5fae\u955c\u67d3\u8272\u4f53\u68c0\u67e5\uff08\u67d3\u8272\u4f53\u6838\u578b\u5206\u6790\uff09\u96be\u4ee5\u53d1\u73b0\u7684\u5fae\u5c0f\u53d8\u5316\uff0c\u901a\u8fc7\u8fd9\u9879\u68c0\u6d4b\u4e5f\u80fd\u6355\u6349\u5230\u3002\u4e0b\u9762\u5206\u522b\u68b3\u7406\u4ea7\u524d\u548c\u4ea7\u540e\u7684\u68c0\u6d4b\u6d41\u7a0b\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%9C%A8%E4%BA%A7%E5%89%8D%E6%A3%80%E6%B5%8B%E4%B8%AD%E7%9A%84%E5%AE%9A%E4%BD%8D%EF%BC%88%E4%B8%8ENIPT%E7%9A%84%E5%85%B3%E7%B3%BB%EF%BC%89\"><\/span><strong>\u5728\u4ea7\u524d\u68c0\u6d4b\u4e2d\u7684\u5b9a\u4f4d\uff08\u4e0eNIPT\u7684\u5173\u7cfb\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8fd9\u91cc\u6709\u4e00\u70b9\u5e0c\u671b\u5927\u5bb6\u63d0\u524d\u4e86\u89e3\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>\uff08\u65e0\u521b\u4ea7\u524d\u68c0\u6d4b\uff09\u662f\u4e00\u79cd\u975e\u786e\u5b9a\u6027\u7b5b\u67e5\uff0c\u4e3b\u8981\u68c0\u6d4b13\u300118\u300121\u4e09\u4f53\u7b49\u67d3\u8272\u4f53\u6570\u76ee\u5f02\u5e38\u3002<strong>\u50cf15q13.3\u8fd9\u6837\u7684\u5fae\u7f3a\u5931\uff0c\u901a\u5e38\u4e0d\u5728\u5e38\u89c4NIPT\u7684\u68c0\u6d4b\u8303\u56f4\u5185\u3002<\/strong>\u90e8\u5206\u673a\u6784\u4f1a\u5c06\u5176\u4f5c\u4e3a\u6269\u5c55\u68c0\u6d4b\u7684\u53ef\u9009\u9879\u76ee\uff0c\u4f46\u8986\u76d6\u8303\u56f4\u6709\u9650\uff0c\u68c0\u51fa\u7387\u4e5f\u5b58\u5728\u5dee\u5f02\u3002<\/p>\n\n\n\n<p>\u56e0\u6b64\uff0c\u5373\u4f7f\u53ef\u9009\u68c0\u6d4b\u9879\u76ee\u663e\u793a&#8221;\u53ef\u80fd\u6027\u8f83\u9ad8&#8221;\uff0c\u4e5f\u4e0d\u4ee3\u8868\u53ef\u4ee5\u636e\u6b64\u786e\u8bca\u3002\u8fd9\u4e0d\u662f\u4e00\u9879\u80fd\u591f\u627f\u8bfa\u65e0\u9650\u9ad8\u51c6\u786e\u7387\u7684\u68c0\u6d4b\uff0c\u8fd9\u4e00\u70b9\u8bf7\u52a1\u5fc5\u7262\u8bb0\u3002\u5173\u4e8eNIPT\u53ef\u68c0\u6d4b\u9879\u76ee\u7684\u6574\u4f53\u60c5\u51b5\uff0c\u53ef\u53c2\u8003\u6211\u4eec\u7684\u65e5\u6587\u5173\u8054\u6587\u7ae0<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-detectable-conditions\/?lang=zh-hans\">NIPT\u53ef\u68c0\u6d4b\u7684\u75be\u75c5<\/a>\u3002\u5173\u4e8e\u5fae\u7f3a\u5931\u7efc\u5408\u5f81\u4e0eNIPT\u5173\u7cfb\u7684\u6574\u4f53\u8bf4\u660e\uff0c\u4e5f\u53ef\u53c2\u8003<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-microdeletion-risks\/?lang=zh-hans\">\u5fae\u7f3a\u5931\u7efc\u5408\u5f81\u4e0eNIPT<\/a>\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%A1%AE%E8%AF%8A%E9%9C%80%E4%BE%9D%E9%9D%A0%E7%BE%8A%E6%B0%B4%E7%A9%BF%E5%88%BA%E6%88%96%E7%BB%92%E6%AF%9B%E5%8F%96%E6%A0%B7\"><\/span><strong>\u786e\u8bca\u9700\u4f9d\u9760\u7f8a\u6c34\u7a7f\u523a\u6216\u7ed2\u6bdb\u53d6\u6837<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u786e\u8bca\u9700\u8981\u901a\u8fc7\u7f8a\u6c34\u7a7f\u523a\u6216\u7ed2\u6bdb\u53d6\u6837\u91c7\u96c6\u7ec6\u80de\uff0c\u518d\u8fdb\u884c\u67d3\u8272\u4f53\u5fae\u9635\u5217\u68c0\u6d4b\u3002\u8fd9\u4e9b\u5c5e\u4e8e\u786e\u5b9a\u6027\u68c0\u6d4b\uff0c\u4f46\u4f1a\u4f34\u968f\u8f7b\u5fae\u7684\u6d41\u4ea7\u98ce\u9669\uff1a\u7f8a\u6c34\u7a7f\u523a\u7ea6\u4e3a0.3%\u5de6\u53f3\uff0c\u7ed2\u6bdb\u53d6\u6837\u7ea6\u4e3a1%\u5de6\u53f3\u3002<\/p>\n\n\n\n<p>\u662f\u5426\u63a5\u53d7\u68c0\u6d4b\uff0c\u9700\u8981\u5bb6\u5ead\u6743\u8861\u98ce\u9669\u4e0e\u6240\u80fd\u83b7\u5f97\u7684\u4fe1\u606f\u540e\u81ea\u884c\u51b3\u5b9a\u3002\u5173\u4e8e\u786e\u5b9a\u6027\u68c0\u6d4b\u7684\u5177\u4f53\u5185\u5bb9\uff0c\u53ef\u53c2\u8003\u6211\u4eec\u7684\u65e5\u6587\u5173\u8054\u6587\u7ae0<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniotic-fluid-test-about\/?lang=zh-hans\">\u5173\u4e8e\u7f8a\u6c34\u7a7f\u523a<\/a>\u3002\u51fa\u751f\u540e\uff0c\u53ef\u901a\u8fc7\u62bd\u53d6\u5b69\u5b50\u7684\u8840\u6db2\u8fdb\u884c\u67d3\u8272\u4f53\u5fae\u9635\u5217\u68c0\u6d4b\uff0c\u6ca1\u6709\u6d41\u4ea7\u98ce\u9669\u3002<\/p>\n\n\n\n<figure class=\"wp-block-table\"><table><thead><tr><th>\u68c0\u6d4b<\/th><th>\u5b9a\u4f4d<\/th><th>\u5bf915q13.3\u7f3a\u5931\u7684\u68c0\u6d4b\u80fd\u529b<\/th><th>\u8eab\u4f53\u8d1f\u62c5<\/th><\/tr><\/thead><tbody><tr><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>\uff08\u65e0\u521b\u4ea7\u524d\u68c0\u6d4b\uff09<\/td><td>\u975e\u786e\u5b9a\u6027\u7b5b\u67e5<\/td><td>\u901a\u5e38\u4e0d\u5728\u68c0\u6d4b\u8303\u56f4\u5185\u3002\u90e8\u5206\u673a\u6784\u4f5c\u4e3a\u6269\u5c55\u68c0\u6d4b\u53ef\u9009\u9879\u76ee\uff0c\u8986\u76d6\u8303\u56f4\u548c\u68c0\u51fa\u7387\u6709\u5dee\u5f02<\/td><td>\u4ec5\u9700\u91c7\u8840<\/td><\/tr><tr><td>\u7f8a\u6c34\u7a7f\u523a\uff0b\u67d3\u8272\u4f53\u5fae\u9635\u5217<\/td><td>\u786e\u5b9a\u6027\u68c0\u6d4b<\/td><td>\u53ef\u786e\u5b9a\u8be6\u7ec6\u7684\u7f3a\u5931\u8303\u56f4<\/td><td>\u6d41\u4ea7\u98ce\u9669\u7ea60.3%\u5de6\u53f3<\/td><\/tr><tr><td>\u7ed2\u6bdb\u53d6\u6837\uff0b\u67d3\u8272\u4f53\u5fae\u9635\u5217<\/td><td>\u786e\u5b9a\u6027\u68c0\u6d4b<\/td><td>\u53ef\u5728\u598a\u5a20\u65e9\u671f\u786e\u8bca<\/td><td>\u6d41\u4ea7\u98ce\u9669\u7ea61%\u5de6\u53f3<\/td><\/tr><tr><td>\u51fa\u751f\u540e\u8840\u6db2\u68c0\u6d4b\uff0b\u67d3\u8272\u4f53\u5fae\u9635\u5217<\/td><td>\u786e\u5b9a\u6027\u68c0\u6d4b<\/td><td>\u51fa\u751f\u540e\u5373\u53ef\u786e\u8bca<\/td><td>\u4ec5\u9700\u91c7\u8840<\/td><\/tr><\/tbody><\/table><figcaption>15q13.3\u7f3a\u5931\u7efc\u5408\u5f81\u76f8\u5173\u68c0\u6d4b\u6bd4\u8f83\uff08\u5b9a\u4f4d\u4e0e\u8d1f\u62c5\u6574\u7406\uff09<\/figcaption><\/figure>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%A6%82%E4%BD%95%E9%9D%A2%E5%AF%B9%E4%BA%A7%E5%89%8D%E6%A3%80%E6%B5%8B%E7%9A%84%E9%80%89%E6%8B%A9\"><\/span>\u5982\u4f55\u9762\u5bf9\u4ea7\u524d\u68c0\u6d4b\u7684\u9009\u62e9<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u662f\u5426\u63a5\u53d7\u4ea7\u524d\u68c0\u6d4b\uff0c\u6ca1\u6709\u552f\u4e00\u7684\u6b63\u786e\u7b54\u6848\uff0c\u9009\u62e9\u63a5\u53d7\u6216\u4e0d\u63a5\u53d7\uff0c\u90fd\u662f\u5bb6\u5ead\u91cd\u8981\u7684\u81ea\u4e3b\u51b3\u5b9a\u3002<\/strong>\u72b9\u8c6b\u662f\u5f88\u81ea\u7136\u7684\u5fc3\u60c5\u3002\u8fd9\u91cc\u7ed3\u5408\u771f\u5b9e\u7684\u68c0\u6d4b\u7ecf\u5386\uff0c\u68b3\u7406\u4e00\u4e9b\u601d\u8003\u65b9\u5f0f\u3002<\/p>\n\n\n\n<p>\u5728\u54a8\u8be2\u73b0\u573a\uff0c\u6211\u591a\u6b21\u542c\u5230&#8221;\u539f\u672c\u5df2\u7ecf\u51b3\u5b9a\u8981\u505aNIPT\uff0c\u7ed3\u679c\u771f\u7684\u6000\u5b55\u540e\u5374\u72b9\u8c6b\u4e86&#8221;\u8fd9\u6837\u7684\u5fc3\u58f0\u3002\u5728X\uff08\u63a8\u7279\uff09\u4e0a\uff0c<a href=\"https:\/\/x.com\/sisisi195275806\" target=\"_blank\" rel=\"noopener\">@sisisi195275806<\/a>\u5c31\u5766\u7387\u5730\u5199\u9053\uff0c\u81ea\u5df1\u539f\u672c\u4e00\u5b9a\u8981\u505aNIPT\uff0c\u53ef\u771f\u7684\u6000\u5b55\u540e\u5374\u975e\u5e38\u7ea0\u7ed3\uff0c\u4f46\u6700\u7ec8\u8fd8\u662f\u505a\u4e86\u68c0\u6d4b\uff0c\u5e76\u4e14\u5e86\u5e78\u81ea\u5df1\u505a\u4e86\u8fd9\u4e2a\u51b3\u5b9a\u3002\u8fd9\u79cd\u53cd\u590d\u6743\u8861\u3001\u6700\u7ec8\u505a\u51fa\u51b3\u5b9a\u7684\u8fc7\u7a0b\uff0c\u672c\u8eab\u5c31\u662f\u4e0e\u5b9d\u5b9d\u76f8\u5904\u7684\u4e00\u6bb5\u65f6\u5149\u3002<\/p>\n\n\n\n<p>\u53e6\u4e00\u65b9\u9762\uff0c\u4e5f\u6709\u4eba\u7ecf\u8fc7\u53cd\u590d\u601d\u8003\u540e\u9009\u62e9&#8221;\u8fd9\u6b21\u4ec0\u4e48\u90fd\u4e0d\u505a&#8221;\u3002\u5728X\u4e0a\uff0c<a href=\"https:\/\/x.com\/mmy338\" target=\"_blank\" rel=\"noopener\">@mmy338<\/a>\u5199\u9053\uff0c\u81ea\u5df1\u5728\u4ea7\u524d\u68c0\u6d4b\u95ee\u9898\u4e0a\u7ea0\u7ed3\u8bb8\u4e45\uff0c\u6700\u7ec8\u503e\u5411\u4e8e\u8fd9\u6b21\u4ec0\u4e48\u90fd\u4e0d\u505a\u3002\u4e0d\u505a\u68c0\u6d4b\uff0c\u540c\u6837\u662f\u7ecf\u8fc7\u6df1\u601d\u719f\u8651\u540e\u505a\u51fa\u7684\u91cd\u8981\u81ea\u4e3b\u51b3\u5b9a\uff0c\u4e24\u79cd\u9009\u62e9\u90fd\u4e0d\u5e94\u88ab\u5916\u754c\u8bc4\u5224\u9ad8\u4e0b\u3002<\/p>\n\n\n\n<p>\u5982\u679c\u611f\u5230\u72b9\u8c6b\uff0c\u8bf7\u4e0d\u8981\u72ec\u81ea\u627f\u53d7\uff0c\u53ef\u4ee5\u901a\u8fc7\u9057\u4f20\u54a8\u8be2\u5411\u4e13\u5bb6\u6c42\u52a9\u3002\u68c0\u6d4b\u80fd\u4e86\u89e3\u4ec0\u4e48\u3001\u4e0d\u80fd\u4e86\u89e3\u4ec0\u4e48\u3001\u4e4b\u540e\u6709\u54ea\u4e9b\u9009\u62e9\uff0c\u90fd\u53ef\u4ee5\u4e00\u8d77\u68b3\u7406\u6e05\u695a\u3002\u6b64\u524d\u4e00\u4e2a\u5bb6\u5ead\u5728\u68c0\u6d4b\u51b3\u7b56\u65b9\u9762\u7684\u54a8\u8be2\u7ecf\u8fc7\uff0c\u4e5f\u53ef\u53c2\u8003\u6211\u4eec\u7684\u65e5\u6587\u5173\u8054\u6587\u7ae0<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-202407001\/\">\u4e00\u4e2a\u5bb6\u5ead\u7684\u68c0\u6d4b\u54a8\u8be2\u6848\u4f8b<\/a>\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%99%AB%E7%97%AB%E7%AE%A1%E7%90%86%E4%B8%8E%E5%BA%B7%E5%A4%8D%E8%AE%AD%E7%BB%83%E3%80%81%E5%8C%BB%E7%96%97%E6%94%AF%E6%8C%81\"><\/span>\u766b\u75eb\u7ba1\u7406\u4e0e\u5eb7\u590d\u8bad\u7ec3\u3001\u533b\u7597\u652f\u6301<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u76ee\u524d\u5c1a\u65e0\u6cbb\u610815q13.3\u7f3a\u5931\u7efc\u5408\u5f81\u672c\u8eab\u7684\u65b9\u6cd5\uff0c\u4f46\u901a\u8fc7\u766b\u75eb\u7ba1\u7406\u4e0e\u4fc3\u8fdb\u53d1\u80b2\u7684\u5eb7\u590d\u8bad\u7ec3\u76f8\u7ed3\u5408\uff0c\u53ef\u4ee5\u6709\u6548\u652f\u6301\u5b69\u5b50\u7684\u6210\u957f\u3002<\/strong>\u4f1a\u6839\u636e\u6bcf\u4e2a\u5b69\u5b50\u7684\u5177\u4f53\u75c7\u72b6\u7ec4\u5408\uff0c\u7531\u591a\u4e2a\u4e13\u79d1\u56e2\u961f\u5171\u540c\u53c2\u4e0e\u3002\u4e0b\u9762\u68b3\u7406\u652f\u6301\u7684\u51e0\u4e2a\u91cd\u70b9\u65b9\u5411\u3002<\/p>\n\n\n\n<p>\u5982\u679c\u5b58\u5728\u766b\u75eb\uff0c\u901a\u5e38\u4f1a\u4e0e\u5c0f\u513f\u795e\u7ecf\u79d1\u6216\u795e\u7ecf\u5185\u79d1\u5408\u4f5c\uff0c\u6839\u636e\u53d1\u4f5c\u7c7b\u578b\u6301\u7eed\u4f7f\u7528\u6297\u766b\u75eb\u836f\u7269\u6cbb\u7597\u3002\u8bb0\u5f55\u53d1\u4f5c\u7684\u9891\u7387\u548c\u60c5\u51b5\u6709\u52a9\u4e8e\u8c03\u6574\u836f\u7269\u3002\u5bf9\u4e8e\u8fd0\u52a8\u6216\u8bed\u8a00\u53d1\u80b2\u8f83\u6162\u7684\u5b69\u5b50\uff0c\u7406\u7597\u3001\u804c\u80fd\u6cbb\u7597\u3001\u8bed\u8a00\u6cbb\u7597\u90fd\u4f1a\u6709\u5e2e\u52a9\u3002<\/p>\n\n\n\n<p>\u5982\u679c\u5b58\u5728\u4e0e\u5b64\u72ec\u75c7\u8c31\u7cfb\u969c\u788d\u76f8\u5173\u7684\u7279\u5f81\uff0c\u884c\u4e3a\u65b9\u9762\u7684\u652f\u6301\uff0c\u4ee5\u53ca\u4e0e\u5f53\u5730\u53d1\u80b2\u652f\u6301\u673a\u6784\u3001\u7279\u6b8a\u6559\u80b2\u8d44\u6e90\u7684\u5408\u4f5c\uff0c\u4e5f\u662f\u53ef\u4ee5\u8003\u8651\u7684\u65b9\u5411\u3002\u6210\u5e74\u4ee5\u540e\uff0c\u4e0e\u4e3b\u6cbb\u533b\u751f\u4fdd\u6301\u957f\u671f\u8054\u7cfb\uff0c\u6709\u52a9\u4e8e\u53ca\u65e9\u53d1\u73b0\u60c5\u7eea\u6216\u884c\u4e3a\u65b9\u9762\u7684\u53d8\u5316\u3002<\/p>\n\n\n\n<p>\u5982\u679c\u4e0d\u77e5\u4ece\u4f55\u5165\u624b\uff0c\u5efa\u8bae\u5148\u54a8\u8be2\u5b69\u5b50\u7684\u513f\u79d1\u533b\u751f\u6216\u5f53\u5730\u7684\u4fdd\u5065\u670d\u52a1\u4e2d\u5fc3\uff0c\u518d\u7531\u6b64\u5bf9\u63a5\u766b\u75eb\u3001\u53d1\u80b2\u3001\u884c\u4e3a\u7b49\u5404\u65b9\u9762\u7684\u4e13\u4e1a\u8d44\u6e90\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%AE%B6%E5%BA%AD%E6%94%AF%E6%8C%81%E4%B8%8E%E5%8F%AF%E6%B1%82%E5%8A%A9%E7%9A%84%E6%B8%A0%E9%81%93\"><\/span>\u5bb6\u5ead\u652f\u6301\u4e0e\u53ef\u6c42\u52a9\u7684\u6e20\u9053<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u6b63\u56e0\u4e3a\u662f\u7f55\u89c1\u75be\u75c5\uff0c\u53ca\u65e9\u4e86\u89e3\u516c\u5171\u54a8\u8be2\u6e20\u9053\u548c\u8bca\u65ad\u6807\u51c6\u4fe1\u606f\uff0c\u80fd\u4e3a\u5bb6\u5ead\u63d0\u4f9b\u91cd\u8981\u7684\u5fc3\u7406\u652f\u6301\uff0c\u907f\u514d\u5b64\u7acb\u65e0\u63f4\u3002<\/strong>\u957f\u671f\u7684\u5c31\u533b\u4e0e\u5eb7\u590d\u8bad\u7ec3\uff0c\u4f1a\u8017\u8d39\u5927\u91cf\u65f6\u95f4\u548c\u7cbe\u529b\u3002\u4ee5\u4e0b\u662f\u4e00\u4e9b\u53ef\u4ee5\u4f9d\u9760\u7684\u8d44\u6e90\u3002<\/p>\n\n\n\n<p>\u5173\u4e8e\u7f55\u89c1\u75c5\u548c\u7591\u96be\u75c5\u7684\u4fe1\u606f\uff0c\u65e5\u672c\u7684<a href=\"https:\/\/www.nanbyou.or.jp\/\" target=\"_blank\" rel=\"noopener\">\u96be\u75c5\u4fe1\u606f\u4e2d\u5fc3<\/a>\uff08\u65e5\u6587\uff09\u4f1a\u6709\u5e2e\u52a9\u3002\u53d1\u80b2\u652f\u6301\u65b9\u9762\uff0c\u65e5\u672c<a href=\"https:\/\/www.rehab.go.jp\/ddis\/\" target=\"_blank\" rel=\"noopener\">\u56fd\u7acb\u969c\u788d\u8005\u5eb7\u590d\u4e2d\u5fc3 \u53d1\u80b2\u969c\u788d\u4fe1\u606f\u30fb\u652f\u6301\u4e2d\u5fc3<\/a>\uff08\u65e5\u6587\uff09\u6574\u7406\u4e86\u54a8\u8be2\u6e20\u9053\u548c\u652f\u6301\u601d\u8def\u3002\u65e5\u672c\u4e13\u5bb6\u6574\u7406\u7684\u8bca\u65ad\u6807\u51c6\uff0c\u53ef\u53c2\u8003\u8fd9\u4efd\u6c47\u603b\u4e86\u67d3\u8272\u4f53\u5fae\u9635\u5217\u68c0\u6d4b\u8bca\u65ad\u6807\u51c6\u7684<a href=\"http:\/\/square.umin.ac.jp\/CMA\/12_diagnosis.pdf\" target=\"_blank\" rel=\"noopener\">\u5b66\u672f\u8d44\u6599\uff0815q13.3\u5fae\u7f3a\u5931\u7efc\u5408\u5f81\uff09<\/a>\uff08\u65e5\u6587PDF\uff09\u3002\u5982\u679c\u5e0c\u671b\u4e2d\u7acb\u5730\u4e86\u89e3\u4ea7\u524d\u68c0\u6d4b\u672c\u8eab\uff0c\u65e5\u672c\u533b\u5b66\u4f1a<a href=\"https:\/\/jams-prenatal.jp\/\" target=\"_blank\" rel=\"noopener\">\u51fa\u751f\u524d\u68c0\u6d4b\u8ba4\u8bc1\u5236\u5ea6\u7b49\u8fd0\u8425\u59d4\u5458\u4f1a<\/a>\uff08\u65e5\u6587\uff09\u7684\u4fe1\u606f\u4e5f\u53ef\u53c2\u8003\u3002<\/p>\n\n\n\n<p>\u8eab\u8fb9\u53ef\u4ee5\u4f9d\u9760\u7684\u8d44\u6e90\u8fd8\u5305\u62ec\u5f53\u5730\u7684\u4fdd\u5065\u670d\u52a1\u4e2d\u5fc3\u3001\u513f\u7ae5\u53d1\u80b2\u652f\u6301\u4e2d\u5fc3\uff0c\u4ee5\u53ca\u6709\u76f8\u4f3c\u7ecf\u5386\u7684\u5bb6\u957f\u4e92\u52a9\u4f1a\u3002\u4e0e\u7ecf\u5386\u76f8\u4f3c\u7684\u5bb6\u5ead\u5efa\u7acb\u8054\u7cfb\uff0c\u53ef\u4ee5\u5206\u4eab\u65e5\u5e38\u7684\u5e94\u5bf9\u65b9\u6cd5\uff0c\u4e5f\u80fd\u4e92\u76f8\u758f\u89e3\u60c5\u7eea\u3002\u533b\u7597\u548c\u5eb7\u590d\u8bad\u7ec3\u76f8\u5173\u7684\u8865\u52a9\u5236\u5ea6\u4e5f\u53ef\u80fd\u9002\u7528\uff0c\u5efa\u8bae\u5411\u6240\u5728\u5730\u533a\u7684\u653f\u5e9c\u7a97\u53e3\u54a8\u8be2\u786e\u8ba4\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%B8%B8%E8%A7%81%E9%97%AE%E9%A2%98\"><\/span>\u5e38\u89c1\u95ee\u9898<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_NIPT%E8%83%BD%E6%9F%A5%E5%87%BA15q133%E7%BC%BA%E5%A4%B1%E7%BB%BC%E5%90%88%E5%BE%81%E5%90%97%EF%BC%9F\"><\/span><strong>Q. NIPT\u80fd\u67e5\u51fa15q13.3\u7f3a\u5931\u7efc\u5408\u5f81\u5417\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8fd9\u79cd\u5fae\u7f3a\u5931\u901a\u5e38\u4e0d\u5728\u5e38\u89c4NIPT\uff08\u65e0\u521b\u4ea7\u524d\u68c0\u6d4b\uff09\u7684\u68c0\u6d4b\u8303\u56f4\u5185\u3002\u90e8\u5206\u673a\u6784\u4f1a\u5c06\u5176\u4f5c\u4e3a\u6269\u5c55\u68c0\u6d4b\u7684\u53ef\u9009\u9879\u76ee\uff0c\u4f46\u8986\u76d6\u8303\u56f4\u6709\u9650\uff0c\u68c0\u51fa\u7387\u4e5f\u5b58\u5728\u5dee\u5f02\u3002\u7531\u4e8eNIPT\u5c5e\u4e8e\u975e\u786e\u5b9a\u6027\u7b5b\u67e5\uff0c\u5373\u4f7f\u663e\u793a\u53ef\u80fd\u6027\u8f83\u9ad8\uff0c\u4e5f\u4e0d\u80fd\u636e\u6b64\u786e\u8bca\u3002\u786e\u8bca\u9700\u8981\u5bf9\u7f8a\u6c34\u7a7f\u523a\u6216\u7ed2\u6bdb\u53d6\u6837\u91c7\u96c6\u7684\u7ec6\u80de\u8fdb\u884c\u67d3\u8272\u4f53\u5fae\u9635\u5217\u68c0\u6d4b\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_%E7%BC%BA%E5%A4%B1%E7%BB%BC%E5%90%88%E5%BE%81%E5%92%8C%E9%87%8D%E5%A4%8D%E7%BB%BC%E5%90%88%E5%BE%81%E6%9C%89%E4%BB%80%E4%B9%88%E5%8C%BA%E5%88%AB%EF%BC%9F\"><\/span><strong>Q. \u7f3a\u5931\u7efc\u5408\u5f81\u548c\u91cd\u590d\u7efc\u5408\u5f81\u6709\u4ec0\u4e48\u533a\u522b\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u7f3a\u5931\uff08deletion\uff0floss\uff09\u662f\u6307\u67d3\u8272\u4f53\u9057\u4f20\u7269\u8d28\u4e22\u5931\uff0c\u91cd\u590d\uff08duplication\uff0fgain\uff09\u662f\u6307\u9057\u4f20\u7269\u8d28\u589e\u591a\u3002\u5373\u4f7f\u540c\u6837\u662f15q13.3\u7684BP4-BP5\u8303\u56f4\uff0c\u7f3a\u5931\u548c\u91cd\u590d\u4e5f\u88ab\u89c6\u4e3a\u5b8c\u5168\u4e0d\u540c\u7684\u4e24\u79cd\u75be\u75c5\u3002\u76f8\u6bd4\u7f3a\u5931\u7efc\u5408\u5f81\uff0c\u91cd\u590d\u7efc\u5408\u5f81\u7684\u75c7\u72b6\u8868\u73b0\u66f4\u4e3a\u591a\u6837\uff0c\u4e5f\u6709\u4e0d\u5c11\u4eba\u5b8c\u5168\u6ca1\u6709\u75c7\u72b6\u3002\u8bf7\u4ee5\u68c0\u6d4b\u62a5\u544a\u4e2d\u6807\u6ce8\u7684\u662f&#8221;\u7f3a\u5931&#8221;\u8fd8\u662f&#8221;\u91cd\u590d&#8221;\u4e3a\u51c6\u8fdb\u884c\u5224\u65ad\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_%E8%AF%8A%E6%96%AD%E6%98%AF%E5%A6%82%E4%BD%95%E7%A1%AE%E5%AE%9A%E7%9A%84%EF%BC%9F\"><\/span><strong>Q. \u8bca\u65ad\u662f\u5982\u4f55\u786e\u5b9a\u7684\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u901a\u8fc7\u67d3\u8272\u4f53\u5fae\u9635\u5217\u68c0\u6d4b\u786e\u8bca\uff0c\u8be5\u68c0\u6d4b\u53ef\u4ee5\u53d1\u73b0\u67d3\u8272\u4f53\u4e0a\u5fae\u5c0f\u7684\u7f3a\u5931\u6216\u91cd\u590d\u3002\u4ea7\u524d\u53ef\u901a\u8fc7\u7f8a\u6c34\u7a7f\u523a\u6216\u7ed2\u6bdb\u53d6\u6837\u91c7\u96c6\u7ec6\u80de\u8fdb\u884c\u68c0\u6d4b\uff1b\u51fa\u751f\u540e\u53ef\u901a\u8fc7\u62bd\u8840\u68c0\u6d4b\uff0c\u6ca1\u6709\u6d41\u4ea7\u98ce\u9669\u3002\u4f20\u7edf\u663e\u5fae\u955c\u67d3\u8272\u4f53\u68c0\u67e5\u96be\u4ee5\u53d1\u73b0\u7684\u53d8\u5316\uff0c\u4e5f\u80fd\u901a\u8fc7\u8fd9\u9879\u68c0\u6d4b\u6355\u6349\u5230\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_%E6%98%AF%E5%9B%A0%E4%B8%BA%E7%88%B6%E6%AF%8D%E7%9A%84%E5%85%BB%E8%82%B2%E6%96%B9%E5%BC%8F%E6%88%96%E5%AD%95%E6%9C%9F%E7%94%9F%E6%B4%BB%E6%96%B9%E5%BC%8F%E5%AF%BC%E8%87%B4%E7%9A%84%E5%90%97%EF%BC%9F\"><\/span><strong>Q. \u662f\u56e0\u4e3a\u7236\u6bcd\u7684\u517b\u80b2\u65b9\u5f0f\u6216\u5b55\u671f\u751f\u6d3b\u65b9\u5f0f\u5bfc\u81f4\u7684\u5417\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u4e0d\u662f\u7684\uff0c\u8fd9\u4e0e\u517b\u80b2\u65b9\u5f0f\u65e0\u5173\u3002\u7ea675%\u7684\u7f3a\u5931\u9057\u4f20\u81ea\u7236\u6bcd\u4e00\u65b9\uff0c\u800c\u8be5\u5bb6\u957f\u5f80\u5f80\u6ca1\u6709\u660e\u663e\u75c7\u72b6\uff0c\u8fd9\u662f&#8221;\u4e0d\u5b8c\u5168\u5916\u663e&#8221;\u8fd9\u4e00\u9057\u4f20\u7279\u70b9\u6240\u81f4\u3002\u5176\u4f59\u75c5\u4f8b\u5219\u662f\u65b0\u751f\u7a81\u53d8\u3002\u8fd9\u4e0e\u517b\u80b2\u65b9\u5f0f\u6216\u5b55\u671f\u751f\u6d3b\u65b9\u5f0f\u65e0\u5173\uff0c\u662f\u4efb\u4f55\u4eba\u90fd\u53ef\u80fd\u9047\u5230\u7684\u9057\u4f20\u4e8b\u4ef6\u3002\u5982\u6709\u987e\u8651\uff0c\u8bf7\u901a\u8fc7\u9057\u4f20\u54a8\u8be2\u5411\u4e13\u5bb6\u54a8\u8be2\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_%E7%97%87%E7%8A%B6%E4%BC%9A%E6%9C%89%E5%A4%9A%E4%B8%A5%E9%87%8D%EF%BC%9F\"><\/span><strong>Q. \u75c7\u72b6\u4f1a\u6709\u591a\u4e25\u91cd\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u75c7\u72b6\u7684\u8868\u73b0\u5b58\u5728\u975e\u5e38\u5927\u7684\u4e2a\u4f53\u5dee\u5f02\u3002\u6709\u4eba\u766b\u75eb\u6216\u667a\u529b\u969c\u788d\u8868\u73b0\u660e\u663e\uff0c\u4e5f\u6709\u4eba\u5b8c\u5168\u6ca1\u6709\u660e\u663e\u75c7\u72b6\uff0c\u8fd9\u662f&#8221;\u4e0d\u5b8c\u5168\u5916\u663e&#8221;\u8fd9\u4e00\u7279\u5f81\u6240\u81f4\u3002\u4e0e\u5176\u5957\u7528&#8221;\u5e73\u5747\u60c5\u51b5&#8221;\uff0c\u4e0d\u5982\u4ed4\u7ec6\u89c2\u5bdf\u5b69\u5b50\u6216\u81ea\u8eab\u7684\u5b9e\u9645\u72b6\u51b5\uff0c\u636e\u6b64\u5b89\u6392\u6240\u9700\u7684\u652f\u6301\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_%E7%8A%B9%E8%B1%AB%E8%A6%81%E4%B8%8D%E8%A6%81%E5%81%9A%E4%BA%A7%E5%89%8D%E6%A3%80%E6%B5%8B%EF%BC%8C%E8%AF%A5%E6%80%8E%E4%B9%88%E5%8A%9E%EF%BC%9F\"><\/span><strong>Q. \u72b9\u8c6b\u8981\u4e0d\u8981\u505a\u4ea7\u524d\u68c0\u6d4b\uff0c\u8be5\u600e\u4e48\u529e\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u9009\u62e9\u505a\u68c0\u6d4b\u6216\u4e0d\u505a\u68c0\u6d4b\uff0c\u90fd\u662f\u5bb6\u5ead\u91cd\u8981\u7684\u81ea\u4e3b\u51b3\u5b9a\u3002\u72b9\u8c6b\u662f\u5f88\u81ea\u7136\u7684\u5fc3\u60c5\uff0c\u8bf7\u4e0d\u8981\u72ec\u81ea\u627f\u53d7\u3002\u901a\u8fc7\u9057\u4f20\u54a8\u8be2\u5411\u4e13\u5bb6\u6c42\u52a9\uff0c\u53ef\u4ee5\u4e00\u8d77\u68b3\u7406\u68c0\u6d4b\u80fd\u4e86\u89e3\u4ec0\u4e48\u3001\u4e0d\u80fd\u4e86\u89e3\u4ec0\u4e48\uff0c\u4ee5\u53ca\u4e4b\u540e\u7684\u9009\u62e9\u3002\u8fd9\u79cd\u8ba4\u771f\u601d\u8003\u3001\u6700\u7ec8\u505a\u51fa\u8ba9\u81ea\u5df1\u5b89\u5fc3\u7684\u51b3\u5b9a\u7684\u8fc7\u7a0b\uff0c\u672c\u8eab\u5c31\u662f\u4e0e\u5b9d\u5b9d\u76f8\u5904\u7684\u4e00\u6bb5\u65f6\u5149\u3002<\/p>\n\n\n\n<div style=\"border:1px solid #f0d0dc;border-radius:12px;padding:1.2em 1.4em;margin:2.5rem 0 1rem;background:#fffafc;\">\n<p style=\"margin:0 0 0.4em;font-weight:bold;\">\u4f5c\u8005\u30fb\u76d1\u4fee<\/p>\n<p style=\"margin:0;\">\u5188\u535a\u53f2\uff08Oka Hiroshi\uff09\uff0f\u533b\u7597\u6cd5\u4eba\u793e\u56e2\u798f\u7f8e\u4f1a Hiro Clinic\u7edf\u62ec\u9662\u957f\u30fbLab Director\uff08\u5b9e\u9a8c\u5ba4\u603b\u76d1\uff09\u3002\u6bd5\u4e1a\u4e8e\u5e86\u5e94\u4e49\u587e\u5927\u5b66\u533b\u5b66\u90e8\uff0c\u901a\u8fc7\u65e5\u672c\u4e0e\u7f8e\u56fd\u533b\u5e08\u8d44\u683c\u8003\u8bd5\uff0c\u53d6\u5f97\u533b\u5b66\u535a\u58eb\u5b66\u4f4d\u3002\u662f\u65e5\u672c\u4ec5\u6709\u7684\u7ea620\u540dLab Director\u8d44\u8d28\u6301\u6709\u8005\u4e4b\u4e00\u3002\u901a\u8fc7YouTube\u9891\u9053\u300c\u5188\u533b\u751f\u7684\u6b63\u786e\u598a\u5a20\u79d1\u666echannel\u300d\u7b49\u6e20\u9053\uff0c\u4f20\u64ad\u57fa\u4e8e\u5faa\u8bc1\u533b\u5b66\u7684\u598a\u5a20\u4e0e\u4ea7\u524d\u68c0\u6d4b\u76f8\u5173\u4fe1\u606f\u3002<\/p>\n<\/div>\n\n\n\n<script type=\"application\/ld+json\">\n{\n  \"@context\": \"https:\/\/schema.org\",\n  \"@type\": \"FAQPage\",\n  \"mainEntity\": [\n    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