{"id":73385,"date":"2023-05-20T11:38:26","date_gmt":"2023-05-20T02:38:26","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/%e5%85%a8%e6%9f%93%e8%89%b2%e4%bd%93%e3%81%ae%e7%95%b0%e6%95%b0%e6%80%a7%e3%81%8a%e3%82%88%e3%81%b3%e9%83%a8%e5%88%86%e6%ac%a0%e5%a4%b1%e9%83%a8%e5%88%86%e9%87%8d%e8%a4%87%e3%81%ae%e6%a4%9c%e6%9f%bb\/"},"modified":"2025-01-20T18:42:18","modified_gmt":"2025-01-20T09:42:18","slug":"%e5%85%a8%e6%9f%93%e8%89%b2%e4%bd%93%e3%81%ae%e7%95%b0%e6%95%b0%e6%80%a7%e3%81%8a%e3%82%88%e3%81%b3%e9%83%a8%e5%88%86%e6%ac%a0%e5%a4%b1%e9%83%a8%e5%88%86%e9%87%8d%e8%a4%87%e3%81%ae%e6%a4%9c%e6%9f%bb","status":"publish","type":"page","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/%e5%85%a8%e6%9f%93%e8%89%b2%e4%bd%93%e3%81%ae%e7%95%b0%e6%95%b0%e6%80%a7%e3%81%8a%e3%82%88%e3%81%b3%e9%83%a8%e5%88%86%e6%ac%a0%e5%a4%b1%e9%83%a8%e5%88%86%e9%87%8d%e8%a4%87%e3%81%ae%e6%a4%9c%e6%9f%bb\/?lang=zh-hans","title":{"rendered":"\u662f\u5426\u6709\u5fc5\u8981\u68c0\u67e5\u5168\u67d3\u8272\u4f53\u7684\u975e\u6574\u500d\u6027\u548c\u90e8\u5206\u7f3a\u5931\u548c\u90e8\u5206\u91cd\u590d?"},"content":{"rendered":"\n<p><strong>\u662f\u5426\u5fc5\u8981\u662f\u7531\u60a3\u8005\u672c\u4eba\u6765\u51b3\u5b9a\u7684,\u6211\u4eec\u533b\u7597\u673a\u6784\u53ea\u662f\u63d0\u4f9b\u4fe1\u606f\u3002\u81ea2011\u5e74\u5f00\u59cb\u4ec5\u8fdb\u884c21\u53f7 \u67d3\u8272\u4f53\u4e09\u4f53\u7efc\u5408\u75c7\u68c0\u67e5\u4ee5\u6765,\u5df2\u7ecf\u8fc7\u4e8612\u5e74\u3002\u4e0e\u6b64\u540c\u65f6\uff0c\u6280\u672f\u4e5f\u5728\u4e0d\u65ad\u8fdb\u6b65\u3002\u800c\u6211\u4eec\u7684\u4f7f\u547d\u662f\u63d0\u4f9b\u6700\u5148\u8fdb\u7684NIPT\u3002<\/strong><\/p>\n\n\n\n<p>\u8ba4\u8bc1\u8bbe\u65bd\u63a8\u8350\u4ec5\u68c0\u67e521,18,13 \u53f7\u67d3\u8272\u4f53\u4e09\u4f53\u7efc\u5408\u75c7\u3002\u7ecf\u5e38\u542c\u5230\u8bf4\u4e0d\u9700\u8981\u5176\u4ed6\u7684\u68c0\u67e5\u3002\u5c3d\u7ba1\u5982\u6b64, Hiro\u8bca\u6240\u8fd8\u662f\u63d0\u4f9b\u5404\u79cd\u5176\u4ed6\u68c0\u67e5\u3002\u4e3a\u4ec0\u4e48\u8fd9\u4e48\u8bf4\uff0c\u56e0\u4e3a\u7efc\u5408\u8fd9\u4e9b\u68c0\u67e5\u7ed3\u679c\u7684\u9891\u7387\u5e76\u4e0d\u4f4e,\u5bf9\u6bcd\u4f53\u4e5f\u6709\u5f71\u54cd\u3002\u5173\u4e8e\u5176\u9891\u7387\u548c\u5f71\u54cd,\u8ba4\u8bc1\u8bbe\u65bd\u5e76\u6ca1\u6709\u8fdb\u884c\u68c0\u67e5,\u6240\u4ee5\u6ca1\u6709\u5b9e\u9645\u7684\u6570\u636e\u3002(\u4e5f\u53ef\u80fd\u53ea\u662f\u6ca1\u6709\u516c\u5e03\u800c\u5df2\u3002) 21\u300118\u300113\u53f7\u4ee5\u5916\u7684\u975e\u6574\u500d\u6027\u3001\u90e8\u5206\u7f3a\u5931\u90e8\u5206\u91cd\u590d\u7684\u6570\u636e\u5728Hiro\u8bca\u6240\u4e2d\u6709\u7edf\u8ba1,\u6240\u4ee5\u60f3\u5c06\u5176\u4e0e\u5176\u4ed6\u56fd\u5bb6\u7684\u6570\u636e\u8fdb\u884c\u6bd4\u5bf9\u3002\u4ee5\u4e0b\u662fHiro\u8bca\u6240\u7684\u68c0\u67e5\u7ed3\u679c\u3002<\/p>\n\n\n\n<div class=\"wp-block-columns is-layout-flex wp-container-core-columns-is-layout-9d6595d7 wp-block-columns-is-layout-flex\">\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:100%\">\n<figure class=\"wp-block-table\"><table><tbody><tr><td>\u6837\u672c\u6570\u91cf\u300029270<\/td><td>\u4eba<\/td><td>\u6bd4\u4f8b<\/td><\/tr><tr><td>13\u53f7\u67d3\u8272\u4f53\u4e09\u4f53\u7efc\u5408\u75c7<\/td><td>43<\/td><td>0.15%<\/td><\/tr><tr><td>\u5168\u67d3\u8272\u4f53\u975e\u6574\u500d\u6027 (13,18,21\u9664\u5916)<\/td><td>179<\/td><td>0.59%<\/td><\/tr><tr><td>\u90e8\u5206\u7f3a\u5931\u90e8\u5206\u91cd\u590d<\/td><td>150<\/td><td>0.51%<\/td><\/tr><\/tbody><\/table><\/figure>\n<\/div>\n<\/div>\n\n\n\n<figure class=\"wp-block-embed is-type-wp-embed is-provider-global-nipt-consortium wp-block-embed-global-nipt-consortium\"><div class=\"wp-block-embed__wrapper\">\n<blockquote class=\"wp-embedded-content\" data-secret=\"Z1k5LYz193\"><a href=\"https:\/\/niptconsortium.com\/\">Home<\/a><\/blockquote><iframe loading=\"lazy\" class=\"wp-embedded-content\" sandbox=\"allow-scripts\" security=\"restricted\" style=\"position: absolute; visibility: hidden;\" title=\"&#8220;Home&#8221; &#8212; Global NIPT Consortium\" src=\"https:\/\/niptconsortium.com\/embed\/#?secret=3rdNm2KCaZ#?secret=Z1k5LYz193\" data-secret=\"Z1k5LYz193\" width=\"500\" height=\"282\" frameborder=\"0\" marginwidth=\"0\" marginheight=\"0\" scrolling=\"no\"><\/iframe>\n<\/div><figcaption class=\"wp-element-caption\">\u4e0eIlmina\u5408\u4f5c\u7684\u5168\u7403NIPT\u534f\u4f1a\u3002<\/figcaption><\/figure>\n\n\n\n<p>\u60f3\u8981\u4ece\u4e0a\u8ff0\u7f51\u7ad9\u83b7\u53d6\u6d77\u5916\u4fe1\u606f\u3002\u7531\u4e8e\u8fd9\u53ea\u6709\u4e13\u5bb6\u624d\u80fd\u770b\u5230\u7684\u7f51\u7ad9,\u56e0\u6b64\u60f3\u7b80\u5355\u5730\u7ffb\u8bd1\u4e00\u4e0b\u3002(\u867d\u7136\u5927\u5bb6\u90fd\u80fd\u770b\u5230,\u4f46\u662f\u56e0\u4e3a\u4e13\u4e1a\u7528\u8bed\u5f88\u591a\u6240\u4ee5\u6bd4\u8f83\u56f0\u96be)<\/p>\n\n\n\n<p>\u2460\u9996\u5148\u662f\u9996\u9875\u3002\u520a\u767b\u7ffb\u8bd1\u597d\u7684\u5185\u5bb9\u3002\u5173\u4e8e\u6211\u4eec\u6240\u4f7f\u7528\u7684\u8868\u8fbe\u65b9\u5f0f\u4e0d\u540c\u4e4b\u5904,\u6211\u4eec\u7528\u7ea2\u5b57\u4f5c\u4e86\u8865\u5145\u3002\u7136\u540e\u520a\u8f7d\u5404\u56fd\u6240\u62a5\u544a\u7684\u6458\u8981\u3002\u4e24\u5bb6\u533b\u9662\u7684\u65e5\u7a0b\u5dee\u522b\u90fd\u4e0d\u5927\u3002<\/p>\n\n\n\n<p><\/p>\n\n\n\n<h1 class=\"wp-block-heading\"><strong>\u5168\u7403NIPT\u534f\u4f1a\u7684\u4f7f\u547d<\/strong><\/h1>\n\n\n\n<p>\u5168\u7403NIPT\u534f\u4f1a\u662f\u7531Illumina\u548c\u5176\u4ed6\u5728\u67d3\u8272\u4f53\u5f02\u5e38\u7684\u65e0\u7ec6\u80deDNA (cfDNA) \u4ea7\u524d\u7b5b\u68c0 (\u975e\u4fb5\u5165\u6027\u4ea7\u524d\u68c0\u67e5,\u4e5f\u79f0\u4e3aNIPT) \u65b9\u9762\u5177\u6709\u7ecf\u9a8c\u7684\u673a\u6784\u6240\u7ec4\u6210\u7684\u3002\u5176\u6210\u5458\u5bf9\u5efa\u7acb\u4e00\u4e2a\u5168\u7403\u6027\u7814\u8ba8\u4f1a\u975e\u5e38\u6709\u5174\u8da3 (\u6269\u5c55NIPT) ,\u4ee5\u63d0\u4f9b\u76f8\u5173\u8bc1\u636e\u548c\u5bf9NIPT\u6cbb\u759721\u300118\u548c13\u53f7\u67d3\u8272\u4f53\u4e09\u4f53\u7efc\u5408\u75c7\u53ca\u5176\u4ed6\u5e38\u89c1\u975e\u6574\u500d\u6027\u75c7\u72b6\u7684\u6700\u4f73\u5b9e\u8df5\u8ba4\u8bc6\u3002<font color=\"red\">\uff1c\uff1d\u6211\u4eec\u5c06\u5176\u547d\u540d\u4e3a\u6269\u5c55NIPT\u3002<\/font><\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u4f55\u8c13\u6269\u5c55NIPT?<\/strong><\/h2>\n\n\n\n<p>NIPT\u4e8e2011\u5e74\u9996\u6b21\u63a8\u51fa\u65f6\u4ec5\u9002\u7528\u4e8e21\u53f7\u67d3\u8272\u4f53\u4e09\u4f53\u7efc\u5408\u75c7,\u800c\u6700\u7ec8\u589e\u52a0\u4e86\u7b5b\u67e518\u53f7\u67d3\u8272\u4f53\u4e09\u4f53\u7efc\u5408\u75c7\u548c13\u53f7\u67d3\u8272\u4f53\u4e09\u4f53\u7efc\u5408\u75c7\u4ee5\u53ca\u7279\u5b9a\u6027\u67d3\u8272\u4f53\u5f02\u5e38 (SCA) \u7684\u529f\u80fd\u3002\u4ece\u90a3\u65f6\u8d77\uff0c\u5df2\u7ecf\u572819\u7bc7\u8bba\u6587\u4e2d\u53d1\u8868\u4e86700,000\u591a\u7bc7\u6269\u5c55NIPT\u7684\u7ed3\u679c<sup>1<\/sup>\u3002\u901a\u8fc7\u6269\u5c55NIPT,\u6240\u6709\u67d3\u8272\u4f53\u5f02\u5e38,\u5176\u4e2d\u542b\u5e38\u89c1\u7684\u67d3\u8272\u4f53\u4e09\u4f53\u7efc\u5408\u75c7 (\u5305\u62ec\u67d3\u8272\u4f5321\u300118\u548c13) \u3001\u7f55\u89c1\u7684\u5e38\u67d3\u8272\u4f53\u975e\u6574\u500d\u4f53\u3001SCA\u548c\u81f3\u5c117Mb\u7684CNV<font color=\"red\">\uff1c\uff1d\u8fd9\u662f\u6211\u4eec\u6240\u8bf4\u7684\u90e8\u5206\u7f3a\u5931\u90e8\u5206\u91cd\u590d\u3002<\/font>\u7684\u603b\u548c\u3002\u8fd9\u4e9b\u75be\u75c5\u7684\u4eba\u7fa4\u53d1\u75c5\u7387\u9ad8\u4e8e18\u548c13\u53f7\u67d3\u8272\u4f53\u4e09\u4f53\u7efc\u5408\u75c7\uff0c\u63a5\u7740\u51fa\u73b0\u6d41\u4ea7\u3001\u80ce\u513f\u751f\u957f\u53d7\u9650\u3001\u6b7b\u80ce\u3001\u5355\u4eb2\u4e8c\u500d\u4f53\u53ca\u76f8\u5173\u5371\u9669\u3001\u81ea\u7136\u65e9\u4ea7\u548c\u80ce\u513f\u6838\u578b\u5f02\u5e38\u7b49\u4e0d\u826f\u540e\u679c\u7684\u5371\u9669\u3002\u4f34\u6709\u76f8\u5173\u7684\u8868\u578b\u3002<sup>2,3,4<\/sup>\u6b64\u5916\uff0c\u6700\u65b0\u51fa\u7248\u8868\u660e,\u82e5\u5c06NIPT\u9650\u5236\u572821\u300118\u300113\u53f7\u67d3\u8272\u4f53\u4e09\u4f53\u7efc\u5408\u75c7\u548c\u6027\u67d3\u8272\u4f53\u5f02\u5e38, \u53ef\u80fd\u4f1a\u6f0f\u638925%\u7684\u9633\u6027\u7b5b\u67e5\u7ed3\u679c\u3002<sup>5<\/sup>\u6269\u5c55\u540e\u7684NIPT\u63d0\u4f9b\u4e86\u7b5b\u67e5\u8fd9\u4e9b\u53ef\u80fd\u5f71\u54cd\u6000\u5b55\u5065\u5eb7\u548c\u7ba1\u7406\u7b49\u5e38\u89c1\u75c7\u72b6\u7684\u673a\u4f1a\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li>Data on file. Illumina, Inc. 2021<\/li>\n\n\n\n<li>Van Opstal et al (2018). Origin and Clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>: results of the TRIDENT study.&nbsp;<em>Genetics in Medicine<\/em>, 20(5): 480-485.<\/li>\n\n\n\n<li>Pertile et al (2017). Rare autosomal trisomies, revealed by maternal plasma DNA sequencing, suggest increased risk of feto-placental disease.&nbsp;<em>Science Translational Medicine<\/em>, 9(405): 1-11.<\/li>\n\n\n\n<li>Scott et al (2018). Rare autosomal trisomies: Important and not so rare.&nbsp;<em>Prenatal Diagnosis<\/em>, 38(10): 765-771.<\/li>\n\n\n\n<li>Soster et al (2021). Three years of clinical experience with a genome-wide cfDNA screening test for aneuploidies and copy-number variants.&nbsp;<em>Genetics in Medicine<\/em>, 23(7): 1349-1355.<\/li>\n\n\n\n<li>Meij et al (2019). TRIDENT-2: National Implementation of Genome-Wide Non-Invasive Prenatal Testing as a First Tier Screening Test in the Netherlands.&nbsp;<em>American Journal of Human Genetics,&nbsp;<\/em>105: 1-11<em>.<\/em><\/li>\n<\/ol>\n\n\n\n<p>\u2461\u63a5\u4e0b\u6765\u8ba9\u6211\u4eec\u6765\u770b\u770b\u6bd4\u5229\u65f6\u6700\u5e38\u505a\u7684\u62a5\u544a\u3002<br><\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><a href=\"http:\/\/www.nature.com\/articles\/s41436-021-01101-4_blank\"><strong>\u7531\u516c\u5171\u8d44\u91d1\u8fdb\u884c\u7684\u5168\u56fd\u6027\u521d\u6b21\u975e\u4fb5\u88ad\u6027\u4ea7\u524d\u7b5b\u67e5\u7ed3\u679c<\/strong><\/a><\/h2>\n\n\n\n<p><a href=\"https:\/\/niptconsortium.com\/category\/belgium\/\">\u6bd4\u5229\u65f6<\/a><\/p>\n\n\n\n<p>\u6bd4\u5229\u65f6\u662f\u9996\u4e2a\u5bf9\u6240\u6709\u5b55\u5987\u8fdb\u884c\u521d\u6b65\u7b5b\u67e5\u5e76\u5168\u989d\u62a5\u9500\u7684\u56fd\u5bb6\u3002\u5728\u8be5\u520a\u7269\u4e2d,\u7531\u6bd4\u5229\u65f6\u6240\u6709\u9057\u4f20\u4e2d\u5fc3\u7ec4\u6210\u7684\u4e00\u4e2a\u534f\u4f1a\u62a5\u544a\u4e86\u4e24\u5e74\u6765\u4e3a\u6240\u6709\u5b55\u5987\u63d0\u4f9b\u6269\u5c55NIPT\u4f5c\u4e3a\u521d\u6b65\u68c0\u67e5\u9009\u9879\u7684\u4e34\u5e8a\u7ecf\u9a8c\u3002\u5728\u7b5b\u67e5\u7684153,575\u540d\u5b55\u5987\u4e2d\uff0c\u5206\u522b\u67090.23%\u548c0.07%\u7684\u75c5\u4f8b\u53d1\u73b0\u4e86\u7f55\u89c1\u7684\u5e38\u67d3\u8272\u4f53\u4e09\u4f53\u7efc\u5408\u75c7\u548c\u90e8\u5206\u7f3a\u5931\/\u91cd\u590d\u3002\u4fb5\u5165\u6027\u7684\u8bca\u65ad\u4ea7\u79d1\u5904\u7406\u51cf\u5c11\u4e8652%\u3002\u8be5\u4f5c\u8005\u5f97\u51fa\u7ed3\u8bba,\u6269\u5c55NIPT\u65b9\u6cd5\u5df2\u6210\u529f\u5f15\u5165\u6bd4\u5229\u65f6\u7684\u4ea7\u524d\u62a4\u7406,\u5e76\u53ef\u4f5c\u4e3a\u5176\u4ed6\u63d0\u4f9bNIPT\u7684\u56fd\u5bb6\u7684\u6a21\u677f\u3002<\/p>\n\n\n\n<p>\u2462\u8377\u5170\u3002<br><\/p>\n\n\n\n<h2 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