{"id":130296,"date":"2025-01-08T12:32:00","date_gmt":"2025-01-08T03:32:00","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/"},"modified":"2026-07-24T09:48:34","modified_gmt":"2026-07-24T00:48:34","slug":"lp-143","status":"publish","type":"page","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/?lang=zh-hans","title":{"rendered":"\u53ef\u68c0\u6d4b\u667a\u529b\u969c\u788d\u7684143\u79cd\u5fae\u7f3a\u5931\/\u5fae\u91cd\u590d\u75be\u75c5\u68c0\u6d4b"},"content":{"rendered":"\n<style>\n.lp143-box{background:#fff9fb;border:3px dashed #fdb0bc;border-radius:8px;padding:16px 18px;margin:0 0 1.4rem}\n.lp143-box h3{margin:0 0 .6rem;font-size:1.15rem;color:#E54C84}\n.lp143-box ul{margin:0;padding-left:1.2em}\n.lp143-box li{margin:.25rem 0;line-height:1.7}\n.lp143-sum{background:#fff;border:2px solid #f7a8bd;border-radius:8px;padding:14px 18px;margin:0 0 1.4rem;line-height:1.8}\n.lp143-note{background:#f4faff;border-left:6px solid #7fb8e6;border-radius:4px;padding:12px 16px;margin:0 0 1.4rem;line-height:1.8}\n.lp143-note strong{color:#1c6ea4}\n.lp143-tblwrap{overflow-x:auto;margin:0 0 1.4rem}\n.lp143-tbl{border-collapse:collapse;width:100%;font-size:.95rem}\n.lp143-tbl th,.lp143-tbl td{border:1px solid #f0c6d4;padding:9px 11px;text-align:left;vertical-align:top}\n.lp143-tbl thead th{background:#fbeef3;color:#c03a6b}\n.lp143-tbl td a{color:#E54C84}\n.lp143-fig{margin:0 0 1.4rem;text-align:center}\n.lp143-fig svg{max-width:100%;height:auto}\n.lp143-fig figcaption{font-size:.85rem;color:#777;margin-top:.4rem}\n.lp143-word{background:#fffdf5;border:1px solid #f2e2a8;border-radius:6px;padding:12px 16px;margin:0 0 1.4rem}\n.lp143-word dt{font-weight:bold;color:#b8860b;margin-top:.5rem}\n.lp143-word dd{margin:0 0 .3rem;line-height:1.7}\n<\/style>\n\n<div class=\"lp143-sum\">\n<strong>\u672c\u9875\u6458\u8981\uff1a<\/strong>Hiro\u8bca\u6240\u7684<strong>143\u79cd\u5fae\u7f3a\u5931\/\u5fae\u91cd\u590d\u75be\u75c5\u68c0\u6d4b<\/strong>\uff0c\u662f\u68c0\u6d4b\u67d3\u8272\u4f53\u5fae\u5c0f\u7f3a\u5931\u6216\u91cd\u590d\u3001\u6db5\u76d6\u76ee\u6807\u75be\u75c5\u6570\u91cf\u6700\u591a\u7684\u7efc\u5408\u5168\u5957\u68c0\u6d4b\u3002\u91c7\u7528\u5168\u57fa\u56e0\u7ec4\u6d4b\u5e8f\u5206\u6790\uff08WGS\uff09\uff0c\u5e76\u5728\u65e5\u672c\u56fd\u5185\u4e13\u4e1a\u68c0\u6d4b\u673a\u6784\u5b8c\u6210\u89e3\u6790\u3002\u786e\u8ba4\u80ce\u513f\u5fc3\u8df3\u540e\u5373\u53ef\u8fdb\u884c\u68c0\u6d4b\uff0c\u6700\u5feb2\u301c5\u5929\u4ea4\u4ed8\u7ed3\u679c\u3002\n<\/div>\n\n<div class=\"lp143-box\">\n<h3>\u901a\u8fc7\u672c\u9875\u60a8\u53ef\u4ee5\u4e86\u89e3<\/h3>\n<ul>\n<li>\u4e86\u89e3143\u79cd\u5fae\u7f3a\u5931\/\u5fae\u91cd\u590d\u75be\u75c5\u68c0\u6d4b\u7684\u5177\u4f53\u5185\u5bb9\u4e0e\u68c0\u6d4b\u8303\u56f4<\/li>\n<li>\u68b3\u7406\u7efc\u5408\u578b<strong>143\u79cd<\/strong>\u4e0e<strong>\u4e3b\u898123\u79cd<\/strong>\u68c0\u6d4b\u7684\u533a\u522b<\/li>\n<li>\u4e86\u89e3\u201c\u5fae\u7f3a\u5931\/\u5fae\u91cd\u590d\u201d\u4e0e\u201c\u90e8\u5206\u7f3a\u5931\/\u91cd\u590d\u201d\u7684\u533a\u522b<\/li>\n<li>\u7528\u901a\u4fd7\u6613\u61c2\u7684\u65b9\u5f0f\u7406\u89e3\u68c0\u6d4b\u6240\u4f7f\u7528\u7684\u5168\u57fa\u56e0\u7ec4\u6d4b\u5e8f\u5206\u6790\uff08WGS\uff09\u673a\u5236<\/li>\n<li>\u660e\u786e\u68c0\u6d4b\u201c\u9633\u6027\u201d\u4e0e\u201c\u786e\u8bca\u201d\u7684\u533a\u522b\uff0c\u4ee5\u53ca\u4e0e\u7f8a\u6c34\u7a7f\u523a\u68c0\u67e5\u7684\u5173\u7cfb<\/li>\n<\/ul>\n<\/div>\n\n<div class=\"lp143-note\">\n<strong>\u9605\u8bfb\u524d\u987b\u77e5\uff1a<\/strong>NIPT\u662f\u7528\u4e8e\u68c0\u6d4b\u80ce\u513f\u67d3\u8272\u4f53\u72b6\u51b5\u7684<strong>\u7b5b\u67e5\u6027\u68c0\u6d4b\uff08\u975e\u786e\u8bca\u6027\u68c0\u6d4b\uff09<\/strong>\u3002\u68c0\u6d4b\u5bf9\u8c61\u4ec5\u9650\u4e8e\u672c\u9875\u4ecb\u7ecd\u7684\u5fae\u7f3a\u5931\/\u5fae\u91cd\u590d\u7b49\u75be\u75c5\u3002\u5373\u4fbf\u7ed3\u679c\u663e\u793a\u201c\u9633\u6027\u201d\uff0c\u4e5f\u5e76\u4e0d\u4ee3\u8868\u76f4\u63a5\u786e\u8bca\u3002\u6700\u7ec8\u786e\u8bca\u9700\u8981\u8fdb\u884c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniotic-fluid-test-about\/?lang=zh-hans\">\u7f8a\u6c34\u7a7f\u523a<\/a>\u7b49\u786e\u8bca\u6027\u68c0\u67e5\u3002\u672c\u9875\u5185\u5bb9\u57fa\u4e8e\u5987\u4ea7\u79d1\u53ca\u4e34\u5e8a\u9057\u4f20\u5b66\u4e13\u4e1a\u77e5\u8bc6\uff0c\u7531\u7edf\u62ec\u9662\u957f \u5188 \u535a\u53f2 \u76d1\u4fee\u3002\n<\/div>\n\n<h2 class=\"wp-block-heading\">143\u79cd\u4e0e23\u79cd\u5fae\u7f3a\u5931\/\u5fae\u91cd\u590d\u75be\u75c5\u7684\u533a\u522b<\/h2>\n<p>Hiro\u8bca\u6240\u7684\u5fae\u7f3a\u5931\/\u5fae\u91cd\u590d\u75be\u75c5\u68c0\u6d4b\u4e3b\u8981\u5206\u4e3a\u4e24\u5927\u7c7b\uff1a\u672c\u9875\u6240\u8bb2\u89e3\u7684\u7efc\u5408\u578b<strong>143\u79cd<\/strong>\u68c0\u6d4b\uff0c\u4ee5\u53ca\u9488\u5bf9<strong>\u4e3b\u8981\u75be\u75c5\u768423\u79cd<\/strong>\u68c0\u6d4b\u3002\u60a8\u53ef\u6839\u636e\u81ea\u8eab\u9700\u6c42\u8fdb\u884c\u9009\u62e9\u3002<\/p>\n\n<div class=\"lp143-tblwrap\">\n<table class=\"lp143-tbl\">\n<thead><tr><th>\u9879\u76ee<\/th><th>143\u79cd<br>\uff08\u672c\u9875\u9762\uff09<\/th><th>\u4e3b\u898123\u79cd<br>\uff08<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/microdeletion-syndrome\/?lang=zh-hans\">\u5176\u4ed6\u9875\u9762<\/a>\uff09<\/th><\/tr><\/thead>\n<tbody>\n<tr><td><strong>\u68c0\u6d4b\u5bf9\u8c61<\/strong><\/td><td>\u6700\u591a143\u79cd\u5fae\u7f3a\u5931\/\u5fae\u91cd\u590d\u75be\u75c5<\/td><td>\u4ee5\u6307\u5b9a\u7f55\u89c1\u75c5\u4e3a\u4e3b\u768423\u79cd\u4e3b\u8981\u75be\u75c5<\/td><\/tr>\n<tr><td><strong>\u89e3\u6790\u673a\u6784<\/strong><\/td><td>\u65e5\u672c\u56fd\u5185\u68c0\u6d4b\u673a\u6784<br>\uff08\u4e1c\u4eac\u536b\u751f\u68c0\u6d4b\u6240\uff09<\/td><td>\u65e5\u672c\u56fd\u5185\u68c0\u6d4b\u673a\u6784<br>\uff08\u4e1c\u4eac\u536b\u751f\u68c0\u6d4b\u6240\uff09<\/td><\/tr>\n<tr><td><strong>\u51fa\u7ed3\u679c\u65f6\u95f4<\/strong><\/td><td>\u56fd\u5185\u89e3\u6790\uff0c\u6700\u5feb2\u301c5\u5929\u62a5\u544a\u4f53\u5236<\/td><td>\u56fd\u5185\u89e3\u6790\uff0c\u6700\u5feb2\u301c5\u5929\u62a5\u544a\u4f53\u5236<\/td><\/tr>\n<tr><td><strong>\u7279\u70b9<\/strong><\/td><td>\u53ef\u68c0\u6d4b\u75be\u75c5\u6570\u91cf\u6700\u591a\u7684\u7efc\u5408\u5168\u5957\u65b9\u6848<\/td><td>\u516c\u5f00\u672c\u9662\u68c0\u6d4b\u5b9e\u7ee9\u6570\u636e\uff0c\u8be6\u7ec6\u89e3\u6790\u7f3a\u5931\u90e8\u4f4d<\/td><\/tr>\n<\/tbody>\n<\/table>\n<\/div>\n\n<figure class=\"lp143-fig\">\n<svg role=\"img\" aria-label=\"\u5fae\u7f3a\u5931\/\u5fae\u91cd\u590d\u4e0e\u90e8\u5206\u7f3a\u5931\/\u91cd\u590d\u68c0\u6d4b\u8303\u56f4\u533a\u522b\u56fe\u3002\u5fae\u7f3a\u5931\u53ef\u68c0\u6d4b50\u4e07\u4e2a\u78b1\u57fa\u5bf9\u4ee5\u4e0a\uff0c\u90e8\u5206\u7f3a\u5931\u9488\u5bf9500\u4e07\u4e2a\u78b1\u57fa\u5bf9\u4ee5\u4e0a\u3002\" viewBox=\"0 0 720 250\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\">\n<rect x=\"0\" y=\"0\" width=\"720\" height=\"250\" fill=\"#fffafc\"\/>\n<text x=\"360\" y=\"34\" text-anchor=\"middle\" font-size=\"16\" fill=\"#c03a6b\" font-weight=\"bold\">\u53ef\u68c0\u6d4b\u7684\u53d8\u5316\u5927\u5c0f\uff08\u78b1\u57fa\u5bf9\u957f\u5ea6\uff09<\/text>\n<line x1=\"60\" y1=\"90\" x2=\"680\" y2=\"90\" stroke=\"#ccc\" stroke-width=\"2\"\/>\n<text x=\"60\" y=\"118\" font-size=\"12\" fill=\"#777\">\u8f83\u5c0f\uff0850\u4e07\u78b1\u57fa\u5bf9\uff09<\/text>\n<text x=\"680\" y=\"118\" text-anchor=\"end\" font-size=\"12\" fill=\"#777\">\u8f83\u5927\uff08500\u4e07\u78b1\u57fa\u5bf9\u4ee5\u4e0a\uff09<\/text>\n<rect x=\"60\" y=\"150\" width=\"360\" height=\"40\" rx=\"8\" fill=\"#f6c453\"\/>\n<text x=\"240\" y=\"176\" text-anchor=\"middle\" font-size=\"15\" fill=\"#7a5a00\" font-weight=\"bold\">\u5fae\u7f3a\u5931\/\u5fae\u91cd\u590d\uff08143\u79cd\uff0950\u4e07\u78b1\u57fa\u5bf9\u301c<\/text>\n<rect x=\"360\" y=\"200\" width=\"320\" height=\"40\" rx=\"8\" fill=\"#a8d5a2\"\/>\n<text x=\"520\" y=\"226\" text-anchor=\"middle\" font-size=\"15\" fill=\"#3c6b34\" font-weight=\"bold\">\u90e8\u5206\u7f3a\u5931\/\u91cd\u590d 500\u4e07\u78b1\u57fa\u5bf9\u4ee5\u4e0a<\/text>\n<circle cx=\"60\" cy=\"90\" r=\"5\" fill=\"#e07a5f\"\/><circle cx=\"360\" cy=\"90\" r=\"5\" fill=\"#e07a5f\"\/><circle cx=\"680\" cy=\"90\" r=\"5\" fill=\"#e07a5f\"\/>\n<\/svg>\n<figcaption>\u56fe\uff1a\u5fae\u7f3a\u5931\/\u5fae\u91cd\u590d\u4e0e\u90e8\u5206\u7f3a\u5931\/\u91cd\u590d\u68c0\u6d4b\u8303\u56f4\u7684\u533a\u522b\uff08\u793a\u610f\u56fe\uff09<\/figcaption>\n<\/figure>\n\n<h3 class=\"wp-block-heading\">\u63a8\u8350\u4e86\u89e3\u7684\u76f8\u5173\u672f\u8bed<\/h3>\n<div class=\"lp143-word\">\n<dl>\n<dt>\u5fae\u7f3a\u5931\/\u5fae\u91cd\u590d\uff08Microdeletion \/ Microduplication\uff09<\/dt>\n<dd>\u6307\u67d3\u8272\u4f53\u7684\u6781\u5c0f\u4e00\u90e8\u5206\uff08\u7ea650\u4e07\u301c300\u4e07\u4e2a\u78b1\u57fa\u5bf9\uff09\u53d1\u751f\u7f3a\u5931\u6216\u589e\u52a0\uff0c\u4ece\u800c\u5bfc\u81f4\u53d1\u80b2\u8fdf\u7f13\u7b49\u75c7\u72b6\u7684\u60c5\u51b5\u3002<\/dd>\n<dt>\u5168\u57fa\u56e0\u7ec4\u6d4b\u5e8f\u5206\u6790\uff08WGS\uff09<\/dt>\n<dd>\u4e00\u79cd\u5e7f\u6cdb\u8bfb\u53d6\u6574\u4f53\u9057\u4f20\u4fe1\u606f\u7684\u5206\u6790\u65b9\u6cd5\uff0c\u80fd\u591f\u7cbe\u786e\u68c0\u6d4b\u51fa\u6781\u4e3a\u5fae\u5c0f\u7684\u53d8\u5f02\u3002<\/dd>\n<dt>cfDNA\uff08\u6e38\u79bbDNA\uff09<\/dt>\n<dd>\u6e38\u79bb\u5728\u5b55\u5987\u8840\u6db2\u4e2d\u7684DNA\u7247\u6bb5\u3002\u5176\u4e2d\u5305\u542b\u6765\u81ea\u80ce\u513f\u7684DNA\uff0c\u53ea\u9700\u901a\u8fc7\u62bd\u8840\u5373\u53ef\u8fdb\u884c\u68c0\u6d4b\u3002<\/dd>\n<dt>\u663e\u6027\u9057\u4f20 \/ \u9690\u6027\u9057\u4f20<\/dt>\n<dd>\u5355\u4fa7\u57fa\u56e0\u53d1\u751f\u53d8\u5f02\u5373\u6613\u8868\u73b0\u51fa\u7279\u5f81\u7684\u4e3a\u663e\u6027\uff0c\u53cc\u4fa7\u57fa\u56e0\u5747\u53d1\u751f\u53d8\u5f02\u624d\u8868\u73b0\u51fa\u7684\u4e3a\u9690\u6027\u3002\u5927\u90e8\u5206\u5fae\u7f3a\u5931\/\u5fae\u91cd\u590d\u5c5e\u4e8e\u65b0\u53d1\u7a81\u53d8\uff08de novo\uff09\uff0c\u5373\u7236\u6bcd\u53cc\u65b9\u5747\u6b63\u5e38\u3001\u4ec5\u5728\u80ce\u513f\u65f6\u671f\u65b0\u4ea7\u751f\u7684\u53d8\u5f02\uff0c\u4e0e\u5b55\u5987\u7684\u5e74\u9f84\u65e0\u5173\u3002<\/dd>\n<\/dl>\n<\/div>\n\n\n\n<div class=\"content-items\">\n<!---  <figure class=\"top-img\">\n    <img decoding=\"async\" src=\"\/nipt\/wp-content\/uploads\/2024\/12\/3-compare.webp\" alt=\"Hiro\u8bca\u6240\u7684\u68c0\u6d4b\u8303\u56f4\">\n  <\/figure> --->\n  <p>Hiro\u8bca\u6240\u9664\u5510\u6c0f\u7efc\u5408\u5f81\u53ca\u8fea\u4e54\u6cbb\u7efc\u5408\u5f81\u5916\uff0c\u8fd8\u53ef\u68c0\u6d4b143\u79cd\u4f34\u6709\u667a\u529b\u969c\u788d\u7684\u5fae\u7f3a\u5931\/\u5fae\u91cd\u590d\u75be\u75c5\u3002\u4ec5\u9700\u4ece\u6000\u5b55\u7b2c10\u5468\u8d77\u8fdb\u884c\u7b80\u5355\u62bd\u8840\uff0c\u5373\u53ef\u7b5b\u67e5\u53ef\u80fd\u5f71\u54cd\u5b9d\u5b9d\u672a\u6765\u7684\u6700\u5e38\u89c1\u67d3\u8272\u4f53\u5f02\u5e38\u3002<\/p>\n<\/div>\n\n\n\n<div class=\"content-items\">\n  <figure>\n    <img decoding=\"async\" class=\"being-sp\" src=\"\/nipt\/wp-content\/uploads\/2024\/12\/gene-sp.webp\" alt=\"143\u79cd\u5fae\u7f3a\u5931\/\u5fae\u91cd\u590d\u75be\u75c5\u68c0\u6d4b\u57fa\u56e0\u533a\u57df\u4e00\u89c8\u56fe\">\n    <img decoding=\"async\" class=\"being-pc\" src=\"\/nipt\/wp-content\/uploads\/2024\/12\/gene-pc.webp\" alt=\"143\u79cd\u5fae\u7f3a\u5931\/\u5fae\u91cd\u590d\u75be\u75c5\u68c0\u6d4b\u57fa\u56e0\u533a\u57df\u4e00\u89c8\u56fe\">\n  <\/figure>\n  <p class=\"being-sp\">\u2460\u5168\u5e38\u67d3\u8272\u4f53\u5168\u533a\u57df\u90e8\u5206\u7f3a\u5931\u75be\u75c5<\/p>\n  <p class=\"being-sp\">\u2461\u6b63\u5e38<\/p>\n  <p class=\"being-sp\">\u2462\u5168\u5e38\u67d3\u8272\u4f53\u5168\u533a\u57df\u90e8\u5206\u91cd\u590d\u75be\u75c5<\/p>\n  <p class=\"being-sp\">\u2463\u53f2\u5bc6\u65af-\u9a6c\u5409\u5229\u7efc\u5408\u5f81<\/p>\n  <p class=\"being-sp\">\u2464\u8fea\u4e54\u6cbb\u7efc\u5408\u5f81<\/p>\n<\/div>\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u67d3\u8272\u4f53\u5f02\u5e38\u4e0e\u9057\u4f20\u6027\u75be\u75c5\u7684\u53d1\u75c5\u7387<\/strong><\/h2>\n\n\n\n<p><strong>143\u79cd\u5fae\u7f3a\u5931\u75be\u75c5\u7684\u603b\u53d1\u75c5\u7387\u901a\u5e38\u88ab\u8ba4\u4e3a\u7ea6\u4e3a1\/200\u81f31\/300\u3002\u4e5f\u5c31\u662f\u8bf4\uff0c\u5728\u5206\u5a29\u73b0\u573a\u8fd9\u5e76\u4e0d\u7f55\u89c1\uff0c\u7edd\u975e\u7f55\u89c1\u75be\u75c5\u3002\u6b64\u5916\uff0c\u5728\u6240\u6709\u75c5\u4f8b\u4e2d\uff0c\u7ea6\u670975%\u7684\u60a3\u8005\u4f34\u6709\u91cd\u5ea6\u667a\u529b\u969c\u788d\uff0c\u901a\u5e38\u9700\u8981\u5728\u65e5\u5e38\u751f\u6d3b\u548c\u5b66\u4e60\u4e2d\u83b7\u5f97\u5927\u91cf\u652f\u6301\u3002<\/strong><\/p>\n\n\n\n<p><strong>\u5728\u8fd9\u4e9b\u75c5\u4f8b\u4e2d\uff0c\u5c24\u5176\u503c\u5f97\u6ce8\u610f\u7684\u662f\u5408\u5e76\u81ea\u95ed\u75c7\u8c31\u7cfb\u969c\u788d\uff08ASD\uff09\u3002\u5728\u6240\u6709\u75c5\u4f8b\u4e2d\uff0c\u7ea6\u670920%\u81f325%\u786e\u8ba4\u4f34\u6709\u8f83\u9ad8\u7684ASD\u5408\u5e76\u7387\u3002\u6b64\u5916\uff0c\u7ea630%\u81f335%\u88ab\u8ba4\u4e3a\u60a3ASD\u7684\u98ce\u9669\u7a0d\u9ad8\uff0c\u53ef\u80fd\u5728\u884c\u4e3a\u548c\u793e\u4ea4\u6c9f\u901a\u65b9\u9762\u8868\u73b0\u51fa\u8f7b\u5ea6\u7279\u5f81\u3002\u53e6\u4e00\u65b9\u9762\uff0c\u5176\u4f59\u768440%\u81f350%\u5219\u5c5e\u4e8e\u4e0eASD\u5173\u8054\u7f55\u89c1\u6216\u5c1a\u672a\u5b8c\u5168\u660e\u786e\u7684\u60c5\u51b5\u3002<\/strong><\/p>\n\n\n\n<p><strong>\u5173\u4e8e\u5507\u816d\u88c2\uff0c\u5df2\u77e5\u5728\u6240\u6709\u75c5\u4f8b\u4e2d\u7ea6\u670910%\u81f315%\u4f1a\u9ad8\u9891\u5408\u5e76\u51fa\u73b0\u3002\u5728\u7ea650%\u5de6\u53f3\u7684\u75c5\u4f8b\u4e2d\u88ab\u8ba4\u4e3a\u662f\u201c\u5076\u5c14\u53ef\u89c1\u201d\u6216\u201c\u62a5\u544a\u75c5\u4f8b\u8f83\u591a\u201d\uff0c\u4f46\u76f8\u53cd\uff0c\u572830%\u81f340%\u7684\u8303\u56f4\u5185\u5219\u51e0\u4e4e\u4e0d\u53ef\u89c1\u6216\u62a5\u544a\u6781\u5c11\u3002<\/strong><\/p>\n\n\n\n<p><strong>\u5148\u5929\u6027\u5fc3\u810f\u75c5\u7684\u53d1\u75c5\u7387\u5219\u66f4\u9ad8\uff0c\u636e\u786e\u8ba4\u6709\u8d85\u8fc7\u4e09\u5206\u4e4b\u4e8c\uff08\u5373\u534a\u6570\u4ee5\u4e0a\uff09\u7684\u60a3\u8005\u4f1a\u5408\u5e76\u6b64\u75c5\u3002\u6d89\u53ca\u5fc3\u810f\u7ed3\u6784\u6216\u529f\u80fd\u76f8\u5173\u7684\u75be\u75c5\u5360\u7edd\u5927\u591a\u6570\uff0c\u4e0d\u5c11\u75c5\u4f8b\u9700\u8981\u65e9\u671f\u8bca\u65ad\u548c\u9002\u5f53 me \u7684\u533b\u7597\u5e72\u9884\u3002<\/strong><\/p>\n\n\n\n<p><strong>\u5173\u4e8e\u6b65\u884c\u548c\u8fd0\u52a8\u53d1\u80b2\uff0c\u7ea680%\u81f390%\u7684\u75c5\u4f8b\u62a5\u544a\u5b58\u5728\u67d0\u79cd\u7a0b\u5ea6\u7684\u8fdf\u7f13\u6216\u56f0\u96be\u3002\u5176\u4e2d\uff0c\u7ea610%\u81f315%\u5c5e\u4e8e\u81ea\u884c\u6b65\u884c\u56f0\u96be\u6216\u9700\u8981\u957f\u671f\u652f\u6301\u7684\u60c5\u51b5\u3002\u4e0d\u8fc7\uff0c\u4e5f\u6709\u5c11\u90e8\u5206\u5c5e\u4e8e\u4ec5\u6709\u8f7b\u5ea6\u8fdf\u7f13\u6216\u51e0\u4e4e\u4e0d\u53d7\u5f71\u54cd\u7684\u75c5\u4f8b\u3002<\/strong><\/p>\n\n\n\n<p><strong>\u81f3\u4e8e\u5bff\u547d\uff0c\u5e76\u975e\u6240\u6709\u75c5\u4f8b\u90fd\u4f1a\u5bfc\u81f4\u5bff\u547d\u7f29\u77ed\u3002\u5728\u8d85\u8fc7\u534a\u6570\u7684\u75be\u75c5\u4e2d\uff0c\u5747\u6709\u591a\u4f8b\u60a3\u8005\u5b58\u6d3b\u81f3\u6210\u5e74\u671f\u7684\u62a5\u544a\uff0c\u8fd9\u8868\u660e\u5728\u63a5\u53d7\u9002\u5f53\u533b\u7597\u548c\u751f\u6d3b\u652f\u6301\u7684\u540c\u65f6\uff0c\u5b9e\u73b0\u957f\u671f\u751f\u5b58\u662f\u5b8c\u5168\u53ef\u80fd\u7684\u3002<\/strong><\/p>\n\n\n\n<figure class=\"wp-block-image size-large\"><img decoding=\"async\" width=\"1024\" height=\"407\" src=\"\/nipt\/wp-content\/uploads\/2025\/08\/circle-graph-1024x407.webp\" alt=\"\u5fae\u5c0f\u6b20\u5931\u30fb\u91cd\u8907\u75be\u60a3\u306b\u5408\u4f75\u3057\u3084\u3059\u3044\u75c7\u72b6\u306e\u5272\u5408\u3092\u793a\u3059\u30b0\u30e9\u30d5\" class=\"wp-image-112434\"\/><\/figure>\n\n\n\n<div class=\"content-items\">\n  <div class=\"hassei-box\">\n    <table class=\"hassei\">\n      <thead>\n        <tr>\n          <th><\/th>\n          <th>\u5510\u6c0f\u7efc\u5408\u5f81<br>(Down Syndrome)<\/th>\n          <th>\u5e15\u9676\u7efc\u5408\u5f81<br>(Patau Syndrome)<\/th>\n          <th>\u7231\u5fb7\u534e\u5179\u7efc\u5408\u5f81<br>(Edwards Syndrome)<\/th>\n          <th>\u514b\u6c0f\u7efc\u5408\u5f81<br>(Klinefelter Syndrome)<\/th>\n          <th>\u7279\u7eb3\u7efc\u5408\u5f81<br>(Turner Syndrome, X0)<\/th>\n          <th>\u8fea\u4e54\u6cbb\u7efc\u5408\u5f81<br>(DiGeorge Syndrome)<\/th>\n          <th>\u8153\u9aa8\u808c\u840e\u7f29\u75c7 1A\u578b<br>(Charcot-Marie-Tooth Disease Type 1A, CMT1A)<\/th>\n        <\/tr>\n      <\/thead>\n      <tbody>\n        <tr>\n          <th><\/th>\n          <td>47,+21<\/td>\n          <td>47,+13<\/td>\n          <td>47,+18<\/td>\n          <td>47,XXY<\/td>\n          <td>45,X<\/td>\n          <td>46,del(22)(q11.2<\/td>\n          <td>46,dup(17)(p12)<\/td>\n        <\/tr>\n        <tr>\n          <th>\u9884\u4f30\u53d1\u75c5\u7387<br>(Estimated Incidence)<\/th>\n          <td>0.100~0.319%<\/td>\n          <td>0.020~0.029%<\/td>\n          <td>0.02%<\/td>\n          <td>0.200~0.100%<\/td>\n          <td>0.050~0.040%<\/td>\n          <td>0.014~0.026%<\/td>\n          <td>0.008~0.026%<\/td>\n        <\/tr>\n      <\/tbody>\n    <\/table>\n  <\/div>\n<\/div>\n\n\n\n<p style=\"font-size:0.7rem\">\nAkhtar F, Bokhari SRA. Down Syndrome. [Updated 2023 Aug 8]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan-. Available from: <a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK526016\/\">https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK526016\/<\/a>\nOrphanet. (Last updated September 2023). Trisomy 13 syndrome. Reviewed by Pr Alain VERLOES. Retrieved from <a href=\"https:\/\/www.orpha.net\/en\/disease\/detail\/3378\">https:\/\/www.orpha.net\/en\/disease\/detail\/3378<\/a>\nWilliams GM, Brady R. Patau Syndrome. [Updated 2023 Jun 26]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan-. Available from: <a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK538347\/\">https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK538347\/<\/a>\nLos E, Leslie SW, Ford GA. Klinefelter Syndrome. [Updated 2023 Nov 12]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan-. Available from: <a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK482314\/\">https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK482314\/<\/a>\nShankar Kikkeri N, Nagalli S. Turner Syndrome. [Updated 2023 Aug 8]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan-. Available from: <a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK554621\/\">https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK554621\/<\/a>\nMcDonald-McGinn DM, Hain HS, Emanuel BS, et al. 22q11.2 Deletion Syndrome. 1999 Sep 23 [Updated 2024 May 9]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. Available from: <a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1523\/van\">https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1523\/van<\/a> Paassen, B.W., van der Kooi, A.J., van Spaendonck-Zwarts, K.Y. et al. PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies. Orphanet J Rare Dis 9, 38 (2014). <a href=\"https:\/\/doi.org\/10.1186\/1750-1172-9-38\">https:\/\/doi.org\/10.1186\/1750-1172-9-38<\/a><\/p>\n\n\n\n<p>Hiro\u8bca\u6240\u7684\u201c143\u79cd\u5fae\u7f3a\u5931\/\u5fae\u91cd\u590d\u75be\u75c5\u68c0\u6d4b\u201d\u662f\u4e00\u9879\u7528\u4e8e\u8be6\u7ec6\u7b5b\u67e5\u80ce\u513f\u67d3\u8272\u4f53\u5f02\u5e38\u7684\u68c0\u6d4b\u3002\u8be5\u68c0\u6d4b\u91c7\u7528\u4e86\u201c\u5168\u57fa\u56e0\u7ec4\u6d4b\u5e8f\uff08WGS\uff09\u201d\u7684\u65b9\u6cd5\uff0c\u80fd\u591f\u5bf9\u9057\u4f20\u4fe1\u606f\u8fdb\u884c\u5e7f\u6cdb\u7684\u5206\u6790\u3002<\/p>\n\n\n\n<p>\u5177\u4f53\u800c\u8a00\uff0c\u68c0\u6d4b\u4f1a\u63d0\u53d6\u6bcd\u4f53\u8840\u6db2\u4e2d\u5305\u542b\u7684\u80ce\u513f\u6e38\u79bbDNA\uff08cfDNA\uff09\u548c\u6bcd\u4f53DNA\uff0c\u5e76\u5206\u522b\u8fdb\u884c\u6269\u589e\u548c\u5206\u6790\u3002\u5728\u6b64\u8fc7\u7a0b\u4e2d\uff0c\u5229\u7528\u201c\u53cc\u7aef\u6d4b\u5e8f\uff08Pair-End Sequencing\uff09\u201d\u6280\u672f\uff0c\u80fd\u591f\u533a\u5206\u5e76\u8be6\u7ec6\u68c0\u67e5\u80ce\u513fDNA\u4e0e\u6bcd\u4f53DNA\u3002\u901a\u8fc7\u8fd9\u79cd\u65b9\u6cd5\uff0c\u5373\u4f7f\u5b58\u5728\u6e90\u81ea\u80ce\u76d8\u6216\u6bcd\u4f53\u7684\u67d3\u8272\u4f53\u5f02\u5e38\u5e72\u6270\uff0c\u4e5f\u80fd\u66f4\u51c6\u786e\u5730\u68c0\u6d4b\u51fa\u5f02\u5e38\uff0c\u4ece\u800c\u964d\u4f4e\u5c06\u6b63\u5e38\u5224\u5b9a\u4e3a\u201c\u6709\u5f02\u5e38\u201d\u7684\u98ce\u9669\uff08\u5047\u9633\u6027\uff09\u3002<\/p>\n\n\n\n<p>\u6b64\u5916\uff0c\u8be5\u68c0\u6d4b\u8fd8\u91c7\u7528\u201cZ\u503c\u9608\u503c\uff08Z-score Threshold\uff09\u201d\u6807\u51c6\u8fdb\u884c\u4e25\u683c\u7684\u5206\u6790\u3002\u5728\u666e\u901a\u7684NIPT\uff08\u65e0\u521b\u4ea7\u524d\u68c0\u6d4b\uff09\u4e2d\uff0c\u6709\u4e9b\u6613\u53d7\u7279\u5b9a\u9057\u4f20\u7279\u5f81\uff08SNP\uff09\u7684\u5f71\u54cd\uff0c\u4f46\u672c\u68c0\u6d4b\u4e0d\u6613\u53d7\u5176\u5f71\u54cd\uff0c\u80fd\u591f\u63d0\u4f9b\u516c\u5e73\u4e14\u9ad8\u4fe1\u8d56\u5ea6\u7684\u7ed3\u679c\u3002<\/p>\n\n\n\n<p>\u68c0\u6d4b\u53ef\u5728\u786e\u8ba4\u80ce\u513f\u5fc3\u8df3\u540e\u8fdb\u884c\uff0c\u80ce\u513f\u6027\u522b\u5224\u5b9a\u7684\u51c6\u786e\u7387\u4e3a99.9%\u3002\u68c0\u6d4b\u5206\u6790\u7531\u6ee1\u8db3\u7f8e\u56fd\u4e25\u683c\u6807\u51c6\uff08\u901a\u8fc7CLIA\u548cCAP\u8ba4\u8bc1\uff09\u7684\u4e13\u4e1a\u5b9e\u9a8c\u5ba4\u8fdb\u884c\u3002<\/p>\n\n\n\n<p>\u63a5\u4e0b\u6765\uff0c\u8bf4\u660e\u201c\u5fae\u7f3a\u5931\/\u5fae\u91cd\u590d\u201d\u4e0e\u201c\u90e8\u5206\u7f3a\u5931\/\u91cd\u590d\u201d\u7684\u533a\u522b\u3002\u201c\u5fae\u201d\u662f\u6307\u68c0\u67e5\u5fae\u5c0f\u7684\u5f02\u5e38\uff08\u7ea6200\u4e07\uff5e500\u4e07\u4e2a\u78b1\u57fa\u5bf9\u7684\u7f3a\u5931\u6216\u91cd\u590d\uff09\u3002\u867d\u7136\u53ef\u4ee5\u8fdb\u884c\u66f4\u7cbe\u7ec6\u7684\u5206\u6790\uff0c\u4f46\u4ec5\u9650\u4e8e\u7279\u5b9a\u7684\u5f02\u5e38\u3002\u53e6\u4e00\u65b9\u9762\uff0c\u201c\u90e8\u5206\u201d\u662f\u6307\u68c0\u67e5500\u4e07\u4e2a\u78b1\u57fa\u5bf9\u4ee5\u4e0a\u7684\u5927\u5f02\u5e38\uff0c\u80fd\u591f\u4ee5\u6240\u6709\u67d3\u8272\u4f53\u4e3a\u5bf9\u8c61\u8fdb\u884c\u5e7f\u6cdb\u7684\u5f02\u5e38\u68c0\u6d4b\u3002\u4e24\u8005\u5404\u6709\u5229\u5f0a\uff0c\u6839\u636e\u76ee\u7684\u9009\u62e9\u5408\u9002\u7684\u68c0\u6d4b\u81f3\u5173\u91cd\u8981\u3002<\/p>\n\n\n\n<div class=\"content-items\">\n  <div class=\"compare-box\">\n    <table class=\"compare-table\">\n      <thead>\n        <tr>\n          <th>\u4e24\u8005\u7684\u533a\u522b<\/th>\n          <th>\u5fae\u7f3a\u5931\/\u5fae\u91cd\u590d\uff08\u672c\u9875\u9762\u8bf4\u660e\uff09<\/th>\n          <th>\u90e8\u5206\u7f3a\u5931\/\u91cd\u590d\uff08\u5728<a href=\"#\">\u5176\u4ed6\u9875\u9762<\/a>\u8bf4\u660e\uff09<\/th>\n        <\/tr>\n      <\/thead>\n      <tbody>\n        <tr>\n          <th>\u75be\u75c5\u6570\u91cf<\/th>\n          <td>\u6700\u591a\u53ef\u68c0\u6d4b143\u79cd<\/td>\n          <td>\u51e0\u4e4e\u65e0\u9650<\/td>\n        <\/tr>\n        <tr>\n          <th>\u68c0\u6d4b\u8303\u56f4<\/th>\n          <td>\u6700\u5c0f\u53ef\u68c0\u6d4b\u81f350\u4e07\u4e2a\u78b1\u57fa\u5bf9<\/td>\n          <td>\u4ec5\u68c0\u6d4b500\u4e07\u4e2a\u78b1\u57fa\u5bf9\u4ee5\u4e0a<\/td>\n        <\/tr>\n        <tr>\n          <th>\u8303\u56f4<\/th>\n          <td>\u4ec5\u9650\u6700\u591a143\u4e2a\u90e8\u4f4d<\/td>\n          <td>\u5e38\u67d3\u8272\u4f53<\/td>\n        <\/tr>\n        <tr>\n          <th>\u62a5\u544a\u4e66\u8bb0\u8f7d<\/th>\n          <td>\u5bf9\u5e94\u7684\u75be\u75c5\u540d\u79f0<\/td>\n          <td>\u6839\u636e\u76f8\u5173\u57fa\u56e0\u63a8\u65ad\u7684\u75be\u75c5\u540d\u79f0<\/td>\n        <\/tr>\n      <\/tbody>\n    <\/table>\n    <p class=\"table-caption\">\u5fae\u7f3a\u5931\/\u5fae\u91cd\u590d\u4e0e\u90e8\u5206\u7f3a\u5931\/\u91cd\u590d\u7684\u533a\u522b<\/p>\n  <\/div>\n<\/div>\n\n\n\n<div class=\"content-items\">\n  <div class=\"rich-box\">\n    <p class=\"rich-txt\">\u7f8e\u56fd\u5987\u4ea7\u79d1\u533b\u5e08\u5b66\u4f1a (ACOG) \u5efa\u8bae\uff0c<br>\u65e0\u8bba\u5b55\u5987\u5e74\u9f84\u5982\u4f55\uff0c\u90fd\u5e94\u5411\u6240\u6709\u5973\u6027\u63d0\u4f9b\u80ce\u513f<br class=\"being-sp\">\u9057\u4f20\u6027\u75be\u75c5\u7684<br class=\"being-pc\">\u67d3\u8272\u4f53\u5f02\u5e38\u7b5b\u67e5\u3002<\/p>\n  <\/div>\n<\/div>\n\n\n\n<div class=\"content-items\">\n  <p>\u5206\u5a29\u67d3\u8272\u4f53\u5f02\u5e38\u5a74\u513f\u7684\u98ce\u9669\u968f\u7740\u5e74\u9f84\u589e\u957f\u800c\u589e\u52a0\uff0c\u4f46\u7edd\u5927\u591a\u6570\u60a3\u6709\u5510\u6c0f\u7efc\u5408\u5f81\u7684\u5a74\u513f\u662f\u753135\u5c81\u4ee5\u4e0b\u7684\u5973\u6027\u6240\u751f\u7684\u3002\u867d\u7136\u9057\u4f20\u6027\u75be\u75c5\u6709\u65f6\u4f1a\u5728\u5bb6\u65cf\u4e2d\u9057\u4f20\uff0c\u4f46\u50cf\u5510\u6c0f\u7efc\u5408\u5f81\u8fd9\u6837\u7684\u75be\u75c5\u53ef\u80fd\u53d1\u751f\u5728\u4efb\u4f55\u4e00\u6b21\u6000\u5b55\u4e2d\u3002<\/p>\n  <p>\u57fa\u4e8e\u4f20\u7edf\u6bcd\u4f53\u8840\u6e05\u6807\u5fd7\u7269\u7684\u4ea7\u524d\u8bca\u65ad\uff08\u4f8b\u5982\uff1a\u4e09\u8054\u7b5b\u67e5\u3001\u56db\u8054\u7b5b\u67e5\u3001\u6574\u5408\u7b5b\u67e5\u7b49\uff09\u5177\u67095%\u4ee5\u4e0a\u7684\u9ad8\u5047\u9633\u6027\u7387\u3002\u4e5f\u5c31\u662f\u8bf4\uff0c\u5728\u901a\u8fc7\u8fd9\u4e9b\u68c0\u6d4b\u88ab\u8bca\u65ad\u4e3a\u9ad8\u98ce\u9669\u7684\u4eba\u7fa4\u4e2d\uff0c\u5b9e\u9645\u4e0a\u60a3\u6709\u5510\u6c0f\u7efc\u5408\u5f81\u7684\u4ec5\u53602%\uff5e3%\u3002\u5176\u4f59\u7684\u4eba\u5b8c\u5168\u6b63\u5e38\uff0c\u5374\u88ab\u9519\u8bef\u5730\u5f52\u7c7b\u4e3a\u9ad8\u98ce\u9669\u7ec4\u3002<\/p>\n<\/div>\n\n\n\n<div class=\"content-items\">\n<div class=\"shomei-wrap\">\n<figure><img decoding=\"async\" src=\"\/nipt\/wp-content\/uploads\/2025\/01\/1736152328393-ce641f58-a432-411a-93bf-3a30d92128e1_1.jpg\" alt=\"\u68c0\u6d4b\u673a\u6784\u8d28\u91cf\u8ba4\u8bc1\u8bc1\u4e66\"><\/figure>\n<figure><img decoding=\"async\" src=\"\/nipt\/wp-content\/uploads\/2025\/01\/INA-1749019-AABB_Certificate-2023-2025_pages-to-jpg-0001.jpg\" alt=\"AABB\u68c0\u6d4b\u8d28\u91cf\u8ba4\u8bc1\u8bc1\u4e66\"><\/figure>\n<\/div>\n<\/div>\n<style>\n@media screen and (min-width:740px){\n  .shomei-wrap{\n    display:flex;\n    justify-content:space-between;\n    align-items:center;\n  }\n  .shomei-wrap figure{\n    width:45%;\n    max-width:400px;\n  }\n}\n<\/style>\n\n\n\n<div class=\"content-items\">\n  <h3>143\u79cd\u5fae\u7f3a\u5931\/\u5fae\u91cd\u590d\u7efc\u5408\u5f81\u5217\u8868<\/h3>\n  <p class=\"read\">143\u79cd\u5fae\u7f3a\u5931\u53ca\u5fae\u91cd\u590d\u7efc\u5408\u5f81\u662fHiro\u8bca\u6240\u53ef\u68c0\u6d4b\u7684\u9879\u76ee\u4e00\u89c8\u3002\u7531\u4e8e\u5c5e\u4e8e\u6d77\u5916\u68c0\u6d4b\uff0c\u4ece\u6837\u672c\u9001\u8fbe\u6d77\u5916\u68c0\u6d4b\u673a\u6784\u540e\u7b97\u8d77\uff0c\u5927\u7ea6\u9700\u89812\u5468\u5de6\u53f3\u7684\u65f6\u95f4\u3002\u8fd9\u662f\u552f\u4e00\u80fd\u591f\u4e00\u6b21\u6027\u68c0\u6d4b\u5982\u6b64\u591a\u5fae\u7f3a\u5931\/\u5fae\u91cd\u590d\u7efc\u5408\u5f81\u7684\u9009\u914d\u9879\u76ee\u3002<\/p>\n  <table class=\"list-116\">\n    <tbody>\n    <tr>\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/1p32_p31_deletion_syndrome\/?lang=zh-hans\">1p32-p31 Deletion Syndrome<br>1p32-p31\u7f3a\u5931\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=88581&#038;lang=zh-hans\">1p36 deletion syndrome<br>1p36\u7f3a\u5931\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/1q41_q42_deletion_syndrome\/?lang=zh-hans\">1q41-q42 Deletion Syndrome<br>1q41-q42\u7f3a\u5931\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/1q43_q44\/?lang=zh-hans\">1q43-q44 deletion syndrome<br>1q43-q44\u7f3a\u5931\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/2p12_p11_2\/?lang=zh-hans\">2p12-p11.2 deletion syndrome<br>2p12-p11.2\u7f3a\u5931\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=121512&#038;lang=zh-hans\">2p16.1-p15 deletion syndrome<br>2p15-p16.1\u5fae\u7f3a\u5931\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/2q-duplication-syndrome\/\">2q duplication<br>2q\u91cd\u590d\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/2q13\/?lang=zh-hans\">2q13 deletion syndrome<br>2q13\u7f3a\u5931\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/2q13_duplication\/?lang=zh-hans\">2q13 duplication syndrome<br>2q13\u91cd\u590d\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/2q31_1_duplication\/?lang=zh-hans\">2q31.1 duplication syndrome<br>2q31.1\u91cd\u590d\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/2q31_1\/?lang=zh-hans\">2q31.1 microdeletion syndrome<br>2q31.1\u5fae\u7f3a\u5931\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/2q33-1_deletion_syndrome\/?lang=zh-hans\">2q33.1 microdeletion syndrome<br>2q33.1\u7f3a\u5931\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/2q35-duplication-syndrome\/\">2q35 duplication syndrome<br>2q35\u91cd\u590d\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/2q37-deletion-syndrome\/\">2q37 deletion syndrome<br>2q37\u7f3a\u5931\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/3pter_p25\/?lang=zh-hans\">3pter-p25 deletion syndrome<br>3pter-p25\u7f3a\u5931\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/distal-3p-duplication-syndrome\/\">3p duplication<br>3\u53f7\u67d3\u8272\u4f53\u77ed\u81c2\u672b\u7aef\u91cd\u590d\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/3q-duplication-syndrome\/\">3q duplication<br>3\u53f7\u67d3\u8272\u4f53\u957f\u81c2\u91cd\u590d\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/3q_13_31\/?lang=zh-hans\">3q13.31 deletion syndrome<br>3q13.31\u7f3a\u5931\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/dandy-walker-syndrome-guide\/\">Dandy-Walker syndrome<br>\u4e39\u8fea-\u6c83\u5c14\u514b\u7efc\u5408\u5f81\uff08Dandy-Walker\u7efc\u5408\u5f81\uff09<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/3q26_microduplication_syndrome\/?lang=zh-hans\">3q26 microduplication syndrome<br>3q26\u5fae\u91cd\u590d\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/3q29del\/\">3q29 deletion syndrome<br>3q29\u7f3a\u5931\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/4p-duplication-syndrome\/\">4p duplication<br>4\u53f7\u67d3\u8272\u4f53\u77ed\u81c2\u91cd\u590d\u7efc\u5408\u5f81\uff084p\u91cd\u590d\u7efc\u5408\u5f81\uff09<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/wolf-hirschhorn-syndrome-4p16-3\/\">4p16.3 deletion syndrome<br>4p16.3\u7f3a\u5931\u7efc\u5408\u5f81\uff08\u6c83\u5c14\u592b-\u5e0c\u5e0c\u970d\u6069\u7efc\u5408\u5f81\uff09<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=121572&#038;lang=zh-hans\">4q21 deletion syndrome<br>4q21\u7f3a\u5931\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/distal-4q-duplication-syndrome\/\">4q duplication<br>4q\u672b\u7aef\u91cd\u590d\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/axenfeld-rieger-syndrome-type-1-pitx2\/\">Axenfeld-Rieger syndrome, type 1 (RIEG1)<br>\u963f\u514b\u68ee\u8d39\u5c14\u5fb7-\u91cc\u683c\u7efc\u5408\u5f811\u578b\uff08RIEG1\uff09<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/distal-4q-deletion-syndrome\/\">Distal chromosome 4q deletion<br>\u8fdc\u7aef4q\u7f3a\u5931\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/5p-duplication-syndrome\/\">5p duplication<br>5p\u91cd\u590d\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/5p13_duplication_syndrome\/?lang=zh-hans\">5p13 duplication syndrome<br>5p13\u91cd\u590d\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=121594&#038;lang=zh-hans\">Cri-du-Chat syndrome<br>5p\u7f3a\u5931\u7efc\u5408\u5f81\uff08\u732b\u53eb\u7efc\u5408\u5f81\uff09<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=121599&#038;lang=zh-hans\">5q12 deletion syndrome<br>5q12\u7f3a\u5931\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/5q14-3-deletion-syndrome\/\">5q14.3 deletion syndrome<br>5q14.3\u7f3a\u5931\u7efc\u5408\u5f81\uff08MEF2C\u5355\u500d\u5242\u91cf\u4e0d\u8db3\u7efc\u5408\u5f81\uff09<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=121606&#038;lang=zh-hans\">Sotos syndrome<br>\u7d22\u6258\u65af\u7efc\u5408\u5f81\uff08Sotos\u7efc\u5408\u5f81\uff09<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-6p-deletion-syndrome\/\">6p deletion<br>6p\u7f3a\u5931\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/6p22_microdeletion_syndrome\/?lang=zh-hans\">6p22 microdeletion syndrome<br>6p22\u5fae\u7f3a\u5931\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-6pter-p24-deletion-syndrome\/\">6pter-p24 deletion syndrome<br>6\u53f7\u67d3\u8272\u4f53\u77ed\u81c2\u90e8\u5206\u7f3a\u5931\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=121618&#038;lang=zh-hans\">6q11-q14 deletion syndrome<br>6q11-q14\u7f3a\u5931\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-6q15-q23-deletion-syndrome-guide\/\">6q15-q23 deletion syndrome<br>6q15-q23\u7f3a\u5931\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-6q24-q25-deletion-syndrome-guide\/\">6q24-q25 deletion syndrome<br>6q24-q25\u7f3a\u5931\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-6q25-qter-deletion-syndrome-guide\/\">6q25-qter deletion syndrome<br>6q25-qter\u7f3a\u5931\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-6q26-q27-deletion-syndrome-guide\/\">6q26-q27 deletion syndrome<br>6q26-q27\u7f3a\u5931\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chordoma-comprehensive-guide\/\">Chordoma<br>\u810a\u7d22\u7624<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/greig-cephalopolysyndactyly-syndrome-guide\/\">Greig cephalopolysyndactyly syndrome (GCPS)<br>\u683c\u96f7\u683c\u5934\u9885\u591a\u6307\u5e76\u6307\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/7p22-1-microduplication-syndrome\/?lang=zh-hans\">7p22.1 microduplication syndrome<br>7p22.1\u5fae\u91cd\u590d\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-7q-deletion-syndrome\/\">7q deletion<br>7\u53f7\u67d3\u8272\u4f53\u957f\u81c2\u7f3a\u5931\u7efc\u5408\u5f81\uff087q\u7f3a\u5931\uff09<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/7q11-23-deletion-distal-syndrome\/?lang=zh-hans\">7q11.23 deletion syndrome<br>7q11.23\u7f3a\u5931\u7efc\u5408\u5f81\uff08\u8fdc\u7aef\uff09<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-7q21-q32-deletion-syndrome\/\">7q21-q32 deletion<br>\u7b2c7\u53f7\u67d3\u8272\u4f53\u957f\u81c2\u7f3a\u5931\uff087q21-q32\u7f3a\u5931\u7efc\u5408\u5f81\uff09<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-7q31-q32-deletion-syndrome\/\">7q31-q32 deletion<br>\u7b2c7\u53f7\u67d3\u8272\u4f53\u957f\u81c231-32\u7f3a\u5931\u7efc\u5408\u5f81\uff087q31-q32\u7f3a\u5931\uff09<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=121705&#038;lang=zh-hans\">7q36.3 duplication syndrome<br>7q36.3\u91cd\u590d\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/currarino-syndrome\/\">Currarino syndrome<br>\u5e93\u62c9\u91cc\u8bfa\u7efc\u5408\u5f81\uff08Currarino\u7efc\u5408\u5f81\uff09<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-8p-duplication\/\">8p duplication<br>8p\u67d3\u8272\u4f53\u91cd\u590d\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/8p23-1-deletion-syndrome\/?lang=zh-hans\">8p23.1 deletion syndrome<br>8p23.1\u7f3a\u5931\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-8p23-1-duplication-syndrome\/\">8p23.1 duplication syndrome<br>8p23.1\u91cd\u590d\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-8q-duplication\/\">8q duplication<br>8q\u67d3\u8272\u4f53\u91cd\u590d\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/8q12-microduplication-syndrome\/?lang=zh-hans\">8q12 microduplication syndrome<br>8q12\u5fae\u91cd\u590d\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-8q22-1-deletion-syndrome\/\">8q22.1 deletion syndrome<br>8q22.1\u7f3a\u5931\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-8q22-1-duplication-syndrome\/\">8q22.1 duplication syndrome<br>8q22.1\u91cd\u590d\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/langer-giedion-syndrome-trps2\/\">Langer-Giedion syndrome<br>\u6717\u683c-\u57fa\u8fea\u6069\u7efc\u5408\u5f81\uff08LGS\uff09<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/trps2-langer-giedion-syndrome\/\">Trichorhinophalangeal syndrome type 2 (TRPS2)<br>\u6bdb\u53d1-\u9f3b-\u6307\uff08\u8dbe\uff09\u8282\u7efc\u5408\u5f81II\u578b<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=126064&#038;lang=zh-hans\">9p deletion syndrome<br>9p\u7f3a\u5931\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-9p-duplication-syndrome\/\">9p duplication<br>\u7b2c9\u53f7\u67d3\u8272\u4f53\u77ed\u81c2\u91cd\u590d\u7efc\u5408\u5f81\uff089p\u91cd\u590d\u7efc\u5408\u5f81\uff09<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/9p13-microdeletion-syndrome\/?lang=zh-hans\">9p13 microdeletion syndrome<br>9p13\u5fae\u7f3a\u5931\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-9p24-3-deletion-syndrome\/?lang=zh-hans\">9p24.3 deletion syndrome<br>9p24.3\u7f3a\u5931\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=126068&#038;lang=zh-hans\">9q33.3q34.11 microdeletion syndrome<br>9q33.3q34.11\u5fae\u7f3a\u5931\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=121770&#038;lang=zh-hans\">Early infantile epileptic encephalopathy 4 (EIEE4)<br>\u65e9\u671f\u5a74\u513f\u766b\u75eb\u6027\u8111\u75c54\u578b<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=121781&#038;lang=zh-hans\">Kleefstra syndrome 1 (KLEFS1)<br>\u514b\u91cc\u592b\u65af\u7279\u62c9\u7efc\u5408\u5f811\u578b<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-10p-duplication-syndrome-guide\/\">10p duplication<br>10p\u91cd\u590d\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/10p11-21-p12-31-microdeletion-syndrome\/?lang=zh-hans\">10p12-p11 deletion syndrome<br>10p11.21-p12.31\u5fae\u7f3a\u5931\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/digeorge-syndrome-type2-10p-deletion-guide\/\">DiGeorge syndrome 2<br>\u8fea\u4e54\u6cbb\u7efc\u5408\u5f812\u578b<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/10q22-3q23-2-microdeletion-syndrome\/\">10q22.3-q23.2 deletion syndrome<br>10q22.3-q23.2\u7f3a\u5931\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/split-hand-foot-malformation-type3-guide\/\">Split-hand\/foot malformation 3 (SHFM3)<br>\u88c2\u624b\/\u88c2\u8db3\u7578\u5f623\u578b<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/10q26-deletion-syndrome\/?lang=zh-hans\">10q26 deletion syndrome<br>10q26\u7f3a\u5931\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-11p11-2-deletion-potocki-shaffer-syndrome-guide\/\">11p11.2 deletion syndrome<br>11p11.2\u7f3a\u5931\u7efc\u5408\u5f81\uff08\u6ce2\u6258\u8328\u57fa-\u6c99\u5f17\u7efc\u5408\u5f81\uff09<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-11p13-deletion-wagr-syndrome-guide\/\">11p13 deletion syndrome<br>11p13\u7f3a\u5931\u7efc\u5408\u5f81\uff08WAGR\u7efc\u5408\u5f81\uff09<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/11q13-2-q13-4-deletion-syndrome\/?lang=zh-hans\">11q13.2-q13.4 deletion syndrome<br>11q13.2-q13.4\u7f3a\u5931\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/11q22-2-q22-3-microdeletion-syndrome\/?lang=zh-hans\">11q22.2-q22.3 microdeletion syndrome<br>11q22.2-q22.3\u5fae\u7f3a\u5931\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/11q22-2-q22-3-microdeletion-syndrome\/?lang=zh-hans\">11q23 deletion syndrome<br>11q23\u7f3a\u5931\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/jacobsen-syndrome-11q-deletion-guide\/\">Jacobsen syndrome<br>\u96c5\u5404\u5e03\u68ee\u7efc\u5408\u5f81\uff0811q\u672b\u7aef\u7f3a\u5931\uff09<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-12p-duplication-syndrome-guide\/\">12p duplication<br>12p\u91cd\u590d\u7efc\u5408\u5f81\uff0812\u53f7\u67d3\u8272\u4f53\u77ed\u81c2\u91cd\u590d\uff09<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/12p12-1-microdeletion-syndrome\/?lang=zh-hans\">12p12.1 microdeletion syndrome<br>12p12.1\u5fae\u7f3a\u5931\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/12q14-microdeletion-syndrome\/?lang=zh-hans\">12q14 microdeletion syndrome<br>12q14\u5fae\u7f3a\u5931\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/12q15-q21-1-microdeletion-syndrome\/?lang=zh-hans\">12q15q21.1 microdeletion syndrome<br>12q15-q21.1\u5fae\u7f3a\u5931\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/13q14-deletion-syndrome\/?lang=zh-hans\">13q14 deletion syndrome<br>13q14\u7f3a\u5931\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/distal-chromosome-13q-deletion-syndrome-guide\/\">Distal chromosome 13q deletion<br>13q\u672b\u7aef\u7f3a\u5931\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-14q-duplication-syndrome-guide\/\">14q duplication<br>14\u53f7\u67d3\u8272\u4f53\u957f\u81c2\u91cd\u590d\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/14q11-q22-deletion-syndrome\/?lang=zh-hans\">14q11-q22 deletion syndrome<br>14q11-q22\u7f3a\u5931\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-14q22-deletion-syndrome-guide\/\">14q22 deletion syndrome<br>14q22\u7f3a\u5931\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/14q24-1-q24-3-microdeletion-syndrome\/?lang=zh-hans\">14q24.1-q24.3 microdeletion syndrome<br>14q24.1-q24.3\u5fae\u7f3a\u5931\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/proximal-chromosome-14q-deletion-syndrome-guide\/\">Proximal chromosome 14q deletion<br>14q\u8fd1\u7aef\u7f3a\u5931\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/angelman-syndrome-comprehensive-guide\/\">Angelman syndrome<br>\u5929\u4f7f\u7efc\u5408\u5f81\uff08Angelman\u7efc\u5408\u5f81\uff09<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/prader_willi\/?lang=zh-hans\">Prader-Willi syndrome<br>\u666e\u62c9\u5fb7-\u5a01\u5229\u7efc\u5408\u5f81\uff08\u5c0f\u80d6\u5a01\u5229\u7efc\u5408\u5f81\uff09<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/15q13-3-duplication-syndrome-bp4-to-bp5-gain\/\">15q13.3 duplication syndrome (BP4 to BP5) (gain)<br>15q13.3\u91cd\u590d\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/15q13-3-deletion-syndrome-bp4-to-bp5-loss\/?lang=zh-hans\">15q13.3 deletion syndrome (BP4 to BP5) (loss)<br>15q13.3\u7f3a\u5931\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-15q14-deletion-syndrome-guide\/\">15q14 deletion syndrome<br>15q14\u7f3a\u5931\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=121845&#038;lang=zh-hans\">Distal chromosome 15q deletion<br>15q\u672b\u7aef\u7f3a\u5931\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-15q24-microdeletion-syndrome-guide\/\">15q24 microdeletion syndrome<br>15q24\u5fae\u7f3a\u5931\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-15q26-overgrowth-syndrome-guide\/\">15q26 overgrowth syndrome<br>15q26\u8fc7\u5ea6\u751f\u957f\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/15q26-qter-deletion-syndrome\/?lang=zh-hans\">15q26-qter deletion syndrome<br>15q26-qter\u7f3a\u5931\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/levy-shanske-syndrome-15q25-2-deletion-guide\/\">Levy-Shanske syndrome<br>\u83b1\u7ef4-\u5c1a\u65af\u514b\u7efc\u5408\u5f81\uff08Levy-Shanske\u7efc\u5408\u5f81\uff09<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-16p12-2-p11-2-deletion-syndrome-guide\/\">16p12.2-p11.2 deletion syndrome<br>16p12.2-p11.2\u7f3a\u5931\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-16p12-2-p11-2-duplication-syndrome-guide\/\">16p12.2-p11.2 duplication syndrome<br>16p12.2-p11.2\u91cd\u590d\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/16p13-11-deletion-syndrome\/?lang=zh-hans\">16p13.11 deletion syndrome<br>16p13.11\u7f3a\u5931\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/16p13-11-duplication-syndrome\/?lang=zh-hans\">16p13.11 duplication syndrome<br>16p13.11\u91cd\u590d\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-16p13-3-deletion-syndrome-guide\/\">16p13.3 deletion syndrome<br>16p13.3\u7f3a\u5931\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-16p13-3-duplication-syndrome-guide\/\">16p13.3 duplication syndrome<br>16p13.3\u91cd\u590d\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/proximal-chromosome-16q-duplication-syndrome-guide\/\">Proximal chromosome 16q duplication<br>16q\u8fd1\u7aef\u91cd\u590d\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-16q22-deletion-syndrome-guide\/\">16q22 deletion syndrome<br>16q22\u7f3a\u5931\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-17p-duplication-syndrome-ptls-guide\/\">17p duplication<br>17p\u91cd\u590d\u7efc\u5408\u5f81\uff08\u6ce2\u6258\u8328\u57fa-\u5362\u666e\u65af\u57fa\u7efc\u5408\u5f81\uff09<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases\/smith-magenis-syndrome\/?lang=zh-hans\">Smith-Magenis syndrome<br>\u53f2\u5bc6\u65af-\u9a6c\u5409\u5229\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/duplication-17p11-2-in-a-child-with-developmental-delay\/?lang=zh-hans\">Potocki-Lupski syndrome<br>\u6ce2\u6258\u8328\u57fa-\u5362\u666e\u65af\u57fa\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/17p12-deletion-syndrome-charcot-marie-tooth-disease-type-1a\/?lang=zh-hans\">17p12 deletion syndrome<br>17p12\u7f3a\u5931\u7efc\u5408\u5f81\uff08\u8153\u9aa8\u808c\u840e\u7f29\u75c71A\u578b\uff09<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/17p12-duplication-syndrome\/?lang=zh-hans\">17p12 duplication syndrome<br>17p12\u91cd\u590d\u7efc\u5408\u5f81\uff08WBS\uff09<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/yuan-harel-lupski-syndrome-yuhal-17p12\/?lang=zh-hans\">Yuan-Harel-Lupski syndrome<br>\u8881-\u54c8\u96f7\u5c14-\u5362\u666e\u65af\u57fa\u7efc\u5408\u5f81\uff08YUHAL\uff09<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/17p13-1deletionsyndrome\/?lang=zh-hans\">17p13.1 deletion syndrome<br>17p13.1\u7f3a\u5931\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/17p13-1-deletion-syndrome-miller-dieker-syndrome-miller-dieker-lissencephaly-syndrome-mdls-loss\/?lang=zh-hans\">17p13.3 deletion syndrome<br>17p13.3\u7f3a\u5931\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-17p13-3-duplication-syndrome\/\">17p13.3 duplication syndrome<br>17p13.3\u91cd\u590d\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/miller-dieker-lissencephaly-syndrome-mdls-gain\/?lang=zh-hans\">17p13.3 telomeric duplication syndrome<br>17p13.3\u7aef\u7c92\u91cd\u590d\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/17q12-deletion-syndrome\/?lang=zh-hans\">17q12 deletion syndrome<br>17q12\u7f3a\u5931\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/17q21-31-deletion-syndrome\/?lang=zh-hans\">17q21.31 deletion syndrome<br>17q21.31\u7f3a\u5931\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/17q23-1-q23-2-microdeletion-syndrome\/\">17q23.1-q23.2 deletion syndrome<br>17q23.1-q23.2\u5fae\u7f3a\u5931\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/18p-deletion-syndrome\/?lang=zh-hans\">18p deletion syndrome<br>18p\u7f3a\u5931\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/17q23-1-q23-2-deletion-syndrome\/?lang=zh-hans\">Tetrasomy 18p syndrome<br>18\u53f7\u67d3\u8272\u4f53\u77ed\u81c2\u56db\u4f53\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/18q-deletion-syndrome\/?lang=zh-hans\">18q deletion syndrome<br>18q\u7f3a\u5931\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/distal-chromosome-18q-deletion-syndrome\/\">Distal chromosome 18q deletion syndrome<br>18q\u672b\u7aef\u7f3a\u5931\u7efc\u5408\u5f81\uff0818q-\u7efc\u5408\u5f81\uff09<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/19p13-duplication-syndrome\/?lang=zh-hans\">19p13 duplication syndrome<br>19p13\u91cd\u590d\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/19q13-11-microdeletion-syndrome\/?lang=zh-hans\">19q13.11 microdeletion syndrome<br>19q13.11\u5fae\u7f3a\u5931\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/trisomy-20p-duplication-guide\/\">20p duplication<br>\u67d3\u8272\u4f5320p\u91cd\u590d\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/alagille-syndrome-type-1\/\">Alagille syndrome 1<br>\u963f\u62c9\u5409\u6b27\u7efc\u5408\u5f811\u578b\uff08ALGS1\uff09<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/20p13-microdeletion-syndrome\/?lang=zh-hans\">20p13 microdeletion syndrome<br>20p13\u5fae\u7f3a\u5931\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/21q22-deletion\/\">21q22 deletion<br>\u67d3\u8272\u4f5321q22\u7f3a\u5931\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-22q11-2-deletion-syndrome\/\">22q11.2 deletion syndrome<br>22q11.2\u7f3a\u5931\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/22q13-deletion-syndrome\/\">22q13 deletion syndrome<br>22q13\u7f3a\u5931\u7efc\u5408\u5f81\uff08\u8d39\u5170-\u9ea6\u514b\u5fb7\u7c73\u5fb7\u7efc\u5408\u5f81\uff09<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/22q13-deletion-syndrome-phelan-mcdermid-syndrome\/?lang=zh-hans\">22q13 duplication syndrome<br>22q13\u91cd\u590d\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/xp11-22-duplication-syndrome\/?lang=zh-hans\">Xp11.22 duplication syndrome<br>Xp11.22\u91cd\u590d\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/xp11-23-microdeletion-syndrome\/?lang=zh-hans\">Xp11.23 microdeletion syndrome<br>Xp11.23\u5fae\u7f3a\u5931\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/xp11-22-p11-23-duplication-syndrome\/?lang=zh-hans\">Xp11.23-p11.22 duplication syndrome<br>Xp11.22-p11.23\u91cd\u590d\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/xp11-3-deletion-syndrome\/?lang=zh-hans\">Xp11.3 deletion syndrome<br>Xp11.3\u7f3a\u5931\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-xp21-deletion-syndrome\/\">Xp21 deletion syndrome<br>\u67d3\u8272\u4f53Xp21\u7f3a\u5931\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/xp21-2-microduplication-syndrome\/?lang=zh-hans\">Xp21.2 microduplication syndrome<br>Xp21.2\u91cd\u590d\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-xq21-deletion-syndrome\/\">Xq21 deletion syndrome<br>\u67d3\u8272\u4f53Xq21\u7f3a\u5931\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-xq22-3-deletion-syndrome\/\">Xq22.3 deletion syndrome<br>\u67d3\u8272\u4f53Xq22.3\u7f3a\u5931\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/xq27-3-q28-duplication-syndrome\/?lang=zh-hans\">Xq27.3-q28 duplication syndrome<br>Xq27.3-q28\u91cd\u590d\u7efc\u5408\u5f81<\/a><\/td>\n\n      <td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/xq28-deletion-syndrome\/?lang=zh-hans\">Xq28 deletion syndrome<br>Xq28\u7f3a\u5931\u7efc\u5408\u5f81<\/a><\/td>\n\n    <\/tr>\n    <\/tbody>\n  <\/table>\n<\/div>\n\n\n\n\n\n<details class=\"wp-block-details is-layout-flow wp-block-details-is-layout-flow\"><summary><strong><strong>\u95ee\uff1a\u8be5\u68c0\u6d4b\u4f7f\u7528\u4e8621\u4e2aZ\u503c\uff08Z-score\uff09\uff0c\u8bf7\u95ee\u4ec0\u4e48\u662fZ\u503c\uff1f<\/strong><\/strong><\/summary>\n<div class=\"wp-block-group ac-items\"><div class=\"wp-block-group__inner-container is-layout-constrained wp-block-group-is-layout-constrained\">\n<p><strong>\u7b54\uff1aZ\u503c\uff08Z-score\uff09\u662f\u7528\u6765\u8868\u793a\u67d0\u9879\u6570\u636e\u504f\u79bb\u201c\u6b63\u5e38\u8303\u56f4\u201d\u7a0b\u5ea6\u7684\u6570\u503c\u3002\u4e3e\u4e2a\u4f8b\u5b50\uff0c\u5047\u8bbe\u60a8\u53c2\u52a0\u4e86\u4e00\u573a\u8003\u8bd5\uff0cZ\u503c\u5c31\u662f\u7528\u6765\u8ba1\u7b97\u60a8\u7684\u6210\u7ee9\u4e0e\u666e\u901a\u5206\u6570\uff08\u5e73\u5747\u5206\uff09\u76f8\u6bd4\uff0c\u7a76\u7adf\u662f\u504f\u597d\u8fd8\u662f\u504f\u5dee\u7684\u65b9\u6cd5\u4e4b\u4e00\u3002<\/strong><\/p>\n\n\n\n<p><strong>\u5728\u8fd9\u91cc\uff0c\u6240\u8c13\u7684\u201c\u6570\u636e\u201d\u5b9e\u9645\u4e0a\u662f\u6307\u751f\u7269\u7684\u201c\u57fa\u56e0\u201d\u6216\u201c\u86cb\u767d\u8d28\u201d\u7b49\u4fe1\u606f\u3002Z\u503c\u88ab\u7528\u6765\u8ba1\u7b97\u8fd9\u4e9b\u4fe1\u606f\u4e4b\u95f4\u7684\u76f8\u4f3c\u7a0b\u5ea6\u3002<\/strong><\/p>\n\n\n\n<p><strong>\u4f8b\u5982\uff0c\u5f53\u60f3\u8981\u68c0\u6d4b\u57fa\u56e0\u6216\u86cb\u767d\u8d28\u7684\u5e8f\u5217\uff08\u6392\u5217\u987a\u5e8f\uff09\u662f\u5426\u76f8\u4f3c\u65f6\uff0c\u53ef\u4ee5\u901a\u8fc7Z\u503c\u6765\u4e86\u89e3\u8fd9\u79cd\u201c\u4e00\u81f4\u6027\u201d\u7a76\u7adf\u6709\u591a\u4e48\u201c\u7279\u6b8a\u201d\u3002\u5229\u7528\u8fd9\u79cd\u65b9\u6cd5\uff0c\u5c31\u80fd\u5224\u65ad\u57fa\u56e0\u6216\u86cb\u767d\u8d28\u662f\u771f\u7684\u76f8\u4f3c\uff0c\u8fd8\u662f\u4ec5\u4ec5\u51fa\u4e8e\u5076\u7136\u3002<\/strong><\/p>\n\n\n\n<p><strong>\u7b80\u5355\u6765\u8bf4\uff1a<\/strong><\/p>\n\n\n\n<p><strong>\u5047\u8bbe\u60a8\u63b7\u4e86100\u6b21\u9ab0\u5b50\uff0c\u7ed3\u679c\u51fa\u73b0\u4e8630\u6b21\u201c1\u70b9\u201d\u3002\u6309\u5e38\u7406\u6765\u8bf4\uff0c\u51fa\u73b01\u70b9\u7684\u6982\u7387\u662f1\/6\uff0c\u4e5f\u5c31\u662f\u8bf4\u5927\u7ea6\u5e94\u8be5\u51fa\u73b016\u6b21\u5de6\u53f3\u3002\u5982\u679c\u51fa\u73b0\u4e8630\u6b21\uff0c\u60a8\u4e00\u5b9a\u4f1a\u89c9\u5f97\u201c\u8fd9\u6050\u6015\u4e0d\u662f\u5076\u7136\u5427\u201d\u3002Z\u503c\uff08Z-score\uff09\u5c31\u662f\u50cf\u8fd9\u6837\uff0c\u7528\u6765\u544a\u8bc9\u6211\u4eec\u67d0\u79cd\u7ed3\u679c\u201c\u662f\u5426\u8d85\u51fa\u4e86\u5076\u7136\u8303\u56f4\u201d\u7684\u6307\u6807\u3002<\/strong><\/p>\n\n\n\n<p><strong>\u90a3\u4e48\uff0c\u5b83\u662f\u5982\u4f55\u8ba1\u7b97\u7684\u5462\uff1f<\/strong><\/p>\n\n\n\n<ol start=\"1\" class=\"wp-block-list\">\n<li><strong>\u9996\u5148\uff0c\u5bf9\u6bd4\u9700\u8981\u8fdb\u884c\u6bd4\u8f83\u7684\u4e24\u6761\u5e8f\u5217\uff08\u57fa\u56e0\u6216\u86cb\u767d\u8d28\u7684\u6392\u5217\uff09\u3002<\/strong><\/li>\n\n\n\n<li><strong>\u63a5\u7740\uff0c\u5c06\u5176\u4e2d\u4e00\u6761\u5e8f\u5217\u968f\u673a\u6253\u4e71\uff08\u968f\u673a\u91cd\u6392\uff09\uff0c\u7136\u540e\u518d\u4e0e\u65b0\u7684\u6392\u5217\u8fdb\u884c\u5bf9\u6bd4\u3002<\/strong><\/li>\n\n\n\n<li><strong>\u5927\u91cf\u91cd\u590d\u8fd9\u79cd\u201c\u6253\u4e71\u540e\u5bf9\u6bd4\u201d\u7684\u64cd\u4f5c\uff0c\u4ece\u800c\u5efa\u7acb\u8d77\u4e00\u4e2a\u201c\u666e\u901a\u5bf9\u6bd4\u201d\u7684\u6807\u51c6 baseline\u3002<\/strong><\/li>\n\n\n\n<li><strong>\u6700\u540e\uff0c\u8ba1\u7b97\u5b9e\u9645\u5e8f\u5217\u7684\u5206\u6570\u6bd4\u8fd9\u4e2a\u6807\u51c6\u9ad8\u51fa\u6216\u4f4e\u51fa\u591a\u5c11\uff0c\u5373\u53ef\u5f97\u51fa\u6700\u7ec8\u7684Z\u503c\u3002<\/strong><\/li>\n<\/ol>\n\n\n\n<p><strong>Z\u503c\uff08Z-score\uff09\u6709\u4ec0\u4e48\u4f18\u52bf\uff1f<\/strong><\/p>\n\n\n\n<p><strong>Z\u503c\u7684\u4e3b\u8981\u4f18\u52bf\u5728\u4e8e\uff0c\u65e0\u8bba\u201c\u6570\u636e\u5e93\u89c4\u6a21\u662f\u5927\u662f\u5c0f\u201d\uff0c\u5b83\u90fd\u80fd\u8fdb\u884c\u51c6\u786e\u7684\u5bf9\u6bd4\u3002\u4f8b\u5982\uff0c\u5728\u5bf9\u6bd4\u57fa\u56e0\u65f6\uff0c\u5982\u679c\u6570\u636e\u5e93\u8f83\u5927\uff0c\u901a\u5e38\u4f1a\u4f7f\u7528\u4e00\u79cd\u79f0\u4e3aE\u503c\uff08E-value\uff09\u7684\u5176\u4ed6\u8ba1\u7b97\u65b9\u6cd5\uff0c\u4f46E\u503c\u7684\u7ed3\u679c\u4f1a\u968f\u7740\u6570\u636e\u5e93\u89c4\u6a21\u7684\u6269\u5927\u800c\u53d1\u751f\u53d8\u5316\u3002\u76f8\u6bd4\u4e4b\u4e0b\uff0cZ\u503c\u5b8c\u5168\u4e0d\u53d7\u6570\u636e\u5e93\u5927\u5c0f\u7684\u5f71\u54cd\u3002\u56e0\u6b64\uff0c\u65e0\u8bba\u4f7f\u7528\u4f55\u79cd\u89c4\u6a21\u7684\u6570\u636e\u5e93\uff0c\u90fd\u80fd\u83b7\u5f97\u7a33\u5b9a\u53ef\u9760\u7684\u7ed3\u679c\u3002<\/strong><\/p>\n\n\n\n<p><strong>\u603b\u7ed3\u6765\u8bf4\uff0cZ\u503c\u662f\u4e00\u79cd\u7528\u4e8e\u8bc4\u4f30\u57fa\u56e0\u6216\u86cb\u767d\u8d28\u5e8f\u5217\u76f8\u4f3c\u7a0b\u5ea6\u7684\u6709\u6548\u65b9\u6cd5\u3002\u901a\u8fc7\u8fd9\u79cd\u65b9\u6cd5\uff0c\u80fd\u591f\u51c6\u786e\u5224\u65ad\u5e8f\u5217\u7684\u4e00\u81f4\u6027\u7a76\u7adf\u53ea\u662f\u51fa\u4e8e\u5076\u7136\uff0c\u8fd8\u662f\u5177\u6709\u771f\u6b63\u7684\u751f\u7269\u5b66\u610f\u4e49\u3002\u6b64\u5916\uff0c\u7531\u4e8e\u5b83\u4e0d\u53d7\u6570\u636e\u5e93\u89c4\u6a21\u7684\u5f71\u54cd\uff0c\u56e0\u6b64\u53ef\u4ee5\u5728\u5404\u79cd\u73af\u5883\u4e0b\u63d0\u4f9b\u9ad8\u5ea6\u7cbe\u51c6\u4e14\u4e00\u81f4\u7684\u8bc4\u4f30\u7ed3\u679c\u3002<\/strong>\u4fc2\u306a\u304f\u6b63\u78ba\u306b\u6bd4\u8f03\u3067\u304d\u308b\u305f\u3081\u3001\u5927\u898f\u6a21\u306a\u7814\u7a76\u306b\u3082\u975e\u5e38\u306b\u4fbf\u5229\u3067\u3059\u3002<br><\/p>\n\n\n\n<p style=\"font-size:0.7rem\">Hulsen, T., de Vlieg, J., Leunissen, J. A., &#038; Groenen, P. M. (2006). Testing statistical significance scores of sequence comparison methods with structure similarity. BMC bioinformatics, 7, 444. <a href=\"https:\/\/doi.org\/10.1186\/1471-2105-7-444\">https:\/\/doi.org\/10.1186\/1471-2105-7-444<\/a><\/p>\n\n    <style>\n    summary{\n      cursor: pointer;\n      background: #ffc0cb;\n      padding: 1rem;\n      box-sizing: border-box;\n    }\n    details{\n      border:#ffc0cb 5px solid;\n      border-top:initial;\n      box-sizing:border-box;\n    }\n    .ac-items{\n      padding:1.5rem 1rem 1.5rem 2.5rem;\n    }\n    <\/style>\n<\/div><\/div>\n<\/details>\n\n\n\n<style>\n.top-img{\n  width:50%;\n}\n.content-items{\n  margin:0 auto 2rem;\n}\n@media screen and (min-width:1110px){\n  .list-116 tr{\n    text-align:left;\n  }\n  .list-116 tr a{\n    text-align:center;\n  }\n}\nh3{\n  text-align:center;\n}\n.lp-content{\n  padding: 30px 5% 0;\n  margin:0 auto;\n}\nfigure{\n  margin:0 auto;\n}\nfigure img{\n  width:100%;\n}\n.being-pc{\n  display:none;\n}\n@media screen and (min-width:771px){\n  figure{\n    width:80%;\n    max-width:800px;\n  }\n  .being-sp{\n    display:none;\n  }\n  .being-pc{\n    display:block;\n  }\n  .rich-box{\n   padding:1rem;\n  }\n}\n.rich-box{\n  padding:1rem 0.5rem;\n  border:2px solid #ff738b;\n  border-radius:16px;\n  background:#ffffc3;\n  text-align:center;\n}\n.rich-box .rich-txt{\n  font-size:clamp(14px,4vw,22px);\n  font-family: '\u6e38\u660e\u671d','Yu Mincho',YuMincho,'Hiragino Mincho Pro',serif;\n  font-size:1.2rem;\n  text-shadow:0 0 2px pink;\n  margin:initial;\n}\n .fuku-wrap .fuku-chat p{\n    position:relative;\n    padding:1rem;\n    margin:initial;\n    background:#fff;\n    border-radius:16px;\n    border:5px solid #000;\n    z-index:2;\n  }\n  .fuku-wrap .fuku-chat p:before{\n      transform:translate(0,100%);\n      content: '';\n      position: absolute;\n      right: 20px;\n      bottom: 0;\n      border: 24px solid transparent;\n      border-top-color: #000;\n      z-index:3;\n  }\n  .fuku-wrap .fuku-chat p:after{\n      transform:translate(0,100%);\n      content: '';\n      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font-weight:600;\n  text-align:center;\n}\n<\/style>\n\n<script>\ndocument.addEventListener(\"DOMContentLoaded\", function(){\n\/\/\u30cf\u30f3\u30d0\u30fc\u30ac\u30fc\u30e1\u30cb\u30e5\u30fc\nconst navBtn = document.querySelector('.nav-btn');\nconst navContent = document.querySelector('.nav');\nconst links = document.querySelectorAll('.nav-content a');\n\nnavBtn.addEventListener('click', function(){\n  this.classList.toggle('close-btn')\n  navContent.classList.toggle('appear');\n});\n\nlinks.forEach(link => {\n   link.addEventListener('click', function() {\n      navContent.classList.remove('appear');\n      navBtn.classList.remove('close-btn');\n  });  \n});\n});\n<\/script>\n\n\n\n<p><\/p>\n\n\n\n<div class=\"content-items\">\n<h2 class=\"wp-block-heading\" style=\"text-align:left\">\u8fdb\u884c\u7f8a\u6c34\u7a7f\u523a\u65f6\u7684\u8d39\u7528\u8865\u8d34<\/h2>\n<p>\u5728143\u79cd\u68c0\u6d4b\u4e2d\u7ed3\u679c\u4e3a\u201c\u9633\u6027\u201d\u5e76\u9700\u8981\u8fdb\u4e00\u6b65\u8fdb\u884c\u7f8a\u6c34\u7a7f\u523a\u68c0\u6d4b\u65f6\uff0c\u90e8\u5206\u51c6\u5988\u5988\u53ef\u80fd\u4f1a\u62c5\u5fc3\u8d39\u7528\u8d1f\u62c5\u3002Hiro\u8bca\u6240\u4e3a\u6b64\u63d0\u4f9b\u4e86\u53ef\u7528\u4e8e\u5176\u4ed6\u533b\u9662\u7f8a\u6c34\u7a7f\u523a\u68c0\u6d4b\u7684\u8d39\u7528\u8865\u8d34\u8ba1\u5212\uff0c\u8ba9\u60a8\u80fd\u591f\u4ee5\u8f83\u5c11\u7684\u7ecf\u6d4e\u8d1f\u62c5\u987a\u5229\u8fdb\u884c\u786e\u8bca\u68c0\u6d4b\u3002<\/p>\n<div class=\"lp143-tblwrap\">\n<table class=\"lp143-tbl\">\n<thead><tr><th>\u65b9\u6848<\/th><th>\u81ea\u8d39\u91d1\u989d<\/th><th>\u8865\u8d34\u4e0a\u9650<\/th><\/tr><\/thead>\n<tbody>\n<tr><td><strong>\u57fa\u7840\u578b (Light)<\/strong><\/td><td>3,300\u65e5\u5143<\/td><td>\u6700\u9ad810\u4e07\u65e5\u5143<\/td><\/tr>\n<tr><td><strong>\u6807\u51c6\u578b (Standard)<\/strong><\/td><td>5,500\u65e5\u5143<\/td><td>\u6700\u9ad820\u4e07\u65e5\u5143<\/td><\/tr>\n<tr><td><strong>\u5168\u9762\u578b (Wide)<\/strong><\/td><td>11,000\u65e5\u5143<\/td><td>\u6700\u9ad830\u4e07\u65e5\u5143<\/td><\/tr>\n<\/tbody>\n<\/table>\n<\/div>\n\n<h2 class=\"wp-block-heading\" style=\"text-align:left\">\u76f8\u5173\u9875\u9762<\/h2>\n<ul style=\"line-height:1.9\">\n<li><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/microdeletion-syndrome\/?lang=zh-hans\">\u4e3b\u898123\u79cd\u5fae\u7f3a\u5931\/\u5fae\u91cd\u590d\u75be\u75c5<\/a> \u2014 \u9002\u5408\u5e0c\u671b\u901a\u8fc7\u65e5\u672c\u56fd\u5185\u68c0\u6d4b\u5feb\u901f\u4e86\u89e3\u7ed3\u679c\u7684\u4eba\u7fa4\uff08\u9644\u5b9e\u9645\u6570\u636e\uff09<\/li>\n<li><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u5168\u67d3\u8272\u4f53\u90e8\u5206\u7f3a\u5931\/\u91cd\u590d\u75be\u75c5<\/a> \u2014 \u9488\u5bf9\u5168\u67d3\u8272\u4f53\u68c0\u6d4b500\u4e07\u4e2a\u78b1\u57fa\u5bf9\u4ee5\u4e0a\u8f83\u5927\u53d8\u5f02\u7684\u68c0\u6d4b<\/li>\n<li><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/testing\/?lang=zh-hans\">NIPT\u53ef\u68c0\u6d4b\u75be\u75c5\u4e00\u89c8<\/a> \u2014 \u4ece\u4e09\u5927\u4e09\u4f53\u7efc\u5408\u5f81\u5230\u5fae\u7f3a\u5931\uff0c\u5168\u9762\u4e86\u89e3\u68c0\u6d4b\u76ee\u6807\u75be\u75c5<\/li>\n<li><a href=\"\/nipt\/nipt\/why-premium-plan\/\">\u4ee3\u8868\u6027\u57fa\u56e0\u5f02\u5e38\u4e0e\u667a\u529b\u969c\u788d<\/a> \u2014 \u8be6\u7ec6\u4e86\u89e3\u5fae\u7f3a\u5931\u4e0e\u667a\u529b\u969c\u788d\u7684\u5173\u7cfb<\/li>\n<li><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniotic-fluid-test-about\/?lang=zh-hans\">\u5173\u4e8e\u7f8a\u6c34\u7a7f\u523a\u68c0\u6d4b<\/a> \u2014 \u9633\u6027\u65f6\u7684\u786e\u8bca\u68c0\u6d4b\u5185\u5bb9\u4e0e\u6d41\u7a0b<\/li>\n<li><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/plan-finder\/?lang=en\">NIPT\u65b9\u6848\u8bca\u65ad<\/a> \u2014 \u53ea\u9700\u56de\u7b54\u51e0\u4e2a\u95ee\u9898\u5373\u53ef\u627e\u5230\u9002\u5408\u60a8\u7684\u68c0\u6d4b\u65b9\u6848<\/li>\n<\/ul>\n\n<h2 class=\"wp-block-heading\" style=\"text-align:left\">\u5e38\u89c1\u95ee\u9898\uff08FAQ\uff09<\/h2>\n\n<h3 style=\"text-align:left\">Q. 143\u79cd\u5fae\u7f3a\u5931\/\u5fae\u91cd\u590d\u75be\u75c5\u68c0\u6d4b\u662f\u4e00\u9879\u600e\u6837\u7684\u68c0\u6d4b\uff1f<\/h3>\n<p>A. \u8fd9\u9879\u7b5b\u67e5\u578b\u68c0\u6d4b\u6700\u591a\u53ef\u6df1\u5165\u6392\u67e5\u67d3\u8272\u4f53\u6781\u5176\u5fae\u5c0f\u90e8\u5206\u7684\u7f3a\u5931\u6216\u91cd\u590d\uff08\u5373\u5fae\u7f3a\u5931\/\u5fae\u91cd\u590d\uff09\u8fbe143\u79cd\u3002\u68c0\u6d4b\u91c7\u7528\u5168\u57fa\u56e0\u7ec4\u6d4b\u5e8f\uff08WGS\uff09\u6280\u672f\uff0c\u53ea\u8981\u786e\u8ba4\u80ce\u513f\u5fc3\u8df3\u5373\u53ef\u901a\u8fc7\u62bd\u53d6\u6bcd\u4f53\u9759\u8109\u8840\u8fdb\u884c\u68c0\u6d4b\uff0c\u975e\u5e38\u9002\u5408\u5e0c\u671b\u4e00\u6b21\u6027\u7b5b\u67e5\u5c3d\u53ef\u80fd\u591a\u75be\u75c5\u7684\u4eba\u7fa4\u3002<\/p>\n\n<h3 style=\"text-align:left\">Q. 143\u79cd\u68c0\u6d4b\u4e0e\u4e3b\u898123\u79cd\u68c0\u6d4b\u6709\u4ec0\u4e48\u533a\u522b\uff1f<\/h3>\n<p>A. \u672c\u9875\u4ecb\u7ecd\u7684143\u79cd\u68c0\u6d4b\u662f\u53ef\u68c0\u6d4b\u75be\u75c5\u6570\u91cf\u6700\u591a\u7684\u5168\u7b5b\u578b\u65b9\u6848\u3002\u800c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/microdeletion-syndrome\/?lang=zh-hans\">23\u79cd\u68c0\u6d4b<\/a>\u5219\u4e3b\u8981\u9488\u5bf9\u65e5\u672c\u539a\u751f\u52b3\u52a8\u7701\u6307\u5b9a\u7f55\u89c1\u75c5\u76f8\u5173\u7684\u75be\u75c5\u3002\u60a8\u53ef\u4ee5\u6839\u636e\u4e2a\u4eba\u9700\u6c42\u8fdb\u884c\u9009\u62e9\u3002<\/p>\n\n<h3 style=\"text-align:left\">Q. \u201c\u5fae\u7f3a\u5931\/\u5fae\u91cd\u590d\u201d\u4e0e\u201c\u90e8\u5206\u7f3a\u5931\/\u91cd\u590d\u201d\u6709\u4ec0\u4e48\u533a\u522b\uff1f<\/h3>\n<p>A. \u201c\u5fae\u7f3a\u5931\/\u5fae\u91cd\u590d\u201d\u662f\u6307\u9488\u5bf9\u7279\u5b9a\u76ee\u6807\u7cbe\u7ec6\u6392\u67e5\u7ea650\u4e07\u81f3500\u4e07\u4e2a\u78b1\u57fa\u5bf9\u7684\u5fae\u5c0f\u53d8\u5f02\uff1b\u201c\u90e8\u5206\u7f3a\u5931\/\u91cd\u590d\u201d\u5219\u662f\u5bf9\u6240\u6709\u67d3\u8272\u4f53\u8fdb\u884c\u5e7f\u6cdb\u6392\u67e5\uff0c\u8986\u76d6500\u4e07\u4e2a\u78b1\u57fa\u5bf9\u4ee5\u4e0a\u7684\u8f83\u5927\u53d8\u5f02\u3002\u6839\u636e\u68c0\u6d4b\u76ee\u7684\u8fdb\u884c\u9009\u62e9\u975e\u5e38\u91cd\u8981\u3002\u8bf7\u4e00\u5e76\u53c2\u9605<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=zh-hans\">\u90e8\u5206\u7f3a\u5931\/\u91cd\u590d\u9875\u9762<\/a>\u3002<\/p>\n\n<h3 style=\"text-align:left\">Q. \u591a\u4e45\u53ef\u4ee5\u62ff\u5230\u68c0\u6d4b\u7ed3\u679c\uff1f<\/h3>\n<p>A. 143\u79cd\u68c0\u6d4b\u5728\u65e5\u672c\u56fd\u5185\u68c0\u6d4b\u673a\u6784\uff08\u4e1c\u4eac\u536b\u751f\u68c0\u9a8c\u6240\uff09\u8fdb\u884c\u5206\u6790\uff0c\u6700\u5feb2\uff5e5\u5929\u5373\u53ef\u51fa\u5177\u62a5\u544a\u3002\u533b\u5e08\u5c06\u5728\u9057\u4f20\u54a8\u8be2\u4e2d\u4e3a\u60a8\u8be6\u7ec6\u89e3\u91ca\u62a5\u544a\u89e3\u8bfb\u65b9\u5f0f\u4ee5\u53ca\u7ed3\u679c\u4e3a\u9633\u6027\u65f6\u7684\u540e\u7eed\u5e94\u5bf9\u6b65\u9aa4\u3002<\/p>\n\n<h3 style=\"text-align:left\">Q. \u5982\u679cNIPT\u7ed3\u679c\u4e3a\u201c\u9633\u6027\u201d\uff0c\u5b9d\u5b9d\u5c31\u4e00\u5b9a\u4f1a\u60a3\u6709\u8be5\u75be\u75c5\u5417\uff1f<\/h3>\n<p>A. \u4e0d\u662f\u3002\u7531\u4e8eNIPT\u5c5e\u4e8e\u975e\u786e\u8bca\u6027\u7b5b\u67e5\uff0c\u7ed3\u679c\u201c\u9633\u6027\u201d\u4ec5\u4ee3\u8868\u201c\u60a3\u75c5\u53ef\u80fd\u6027\u9ad8\u201d\uff0c\u5e76\u975e\u6700\u7ec8\u8bca\u65ad\u3002\u7279\u522b\u662f\u5728\u5fae\u7f3a\u5931\u68c0\u6d4b\u4e2d\uff0c\u5373\u4f7f\u7ed3\u679c\u4e3a\u9633\u6027\uff0c\u4e5f\u5b58\u5728\u5b9d\u5b9d\u5b9e\u9645\u4e0a\u5b8c\u5168\u6ca1\u6709\u75be\u75c5\u7684\u60c5\u51b5\u3002\u8981\u505a\u51fa\u660e\u786e\u8bca\u65ad\uff0c\u5fc5\u987b\u8fdb\u884c\u7f8a\u6c34\u7a7f\u523a\u7b49\u786e\u8bca\u6027\u68c0\u67e5\u3002<\/p>\n\n<h3 style=\"text-align:left\">Q. \u5fae\u7f3a\u5931\/\u5fae\u91cd\u590d\u4f1a\u9057\u4f20\u81ea\u7236\u6bcd\u5417\uff1f<\/h3>\n<p>A. \u5927\u591a\u6570\u53d8\u5f02\u5c5e\u4e8e\u7236\u6bcd\u5e76\u4e0d\u643a\u5e26\u3001\u800c\u5728\u5b9d\u5b9d\u8eab\u4e0a\u65b0\u53d1\u751f\u7684\u53d8\u5f02\uff08\u65b0\u53d1\u53d8\u5f02 de novo\uff09\uff0c\u5e76\u4e0d\u4e00\u5b9a\u662f\u9057\u4f20\u6240\u81f4\u3002\u56e0\u6b64\uff0c\u8fd9\u7c7b\u53d8\u5f02\u7684\u53d1\u751f\u4e0e\u5b55\u5987\u5e74\u9f84\u65e0\u5173\u3002\u5982\u679c\u60a8\u6709\u4efb\u4f55\u987e\u8651\uff0c\u90fd\u53ef\u4ee5\u901a\u8fc7\u533b\u5e08\u7684\u9057\u4f20\u54a8\u8be2\u8fdb\u884c\u6c9f\u901a\u4e0e\u4e86\u89e3\u3002<\/p>\n\n<script 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de novo\uff09\uff0c\u5e76\u4e0d\u4e00\u5b9a\u662f\u9057\u4f20\u6240\u81f4\u3002\u8fd9\u7c7b\u53d8\u5f02\u7684\u53d1\u751f\u4e0e\u5b55\u5987\u5e74\u9f84\u65e0\u5173\u3002\"}}\n]}\n<\/script>\n\n<h2 class=\"wp-block-heading\" style=\"text-align:left\">\u76d1\u4fee\u533b\u5e08<\/h2>\n<div class=\"lp143-box\" style=\"border-style:solid;text-align:left\">\n<h3 style=\"text-align:left\">\u5188 \u535a\u53f2\uff08Oka Hiroshi\uff09\uff0fHiro\u8bca\u6240\u603b\u9662\u9577\u30fb\u5b9e\u9a8c\u5ba4\u603b\u76d1<\/h3>\n<p>\u6bd5\u4e1a\u4e8e\u5e86\u5e94\u4e49\u587e\u5927\u5b66\u533b\u5b66\u90e8\u3002\u901a\u8fc7\u65e5\u672c\u53ca\u7f8e\u56fd\u533b\u5e08\u6267\u4e1a\u8d44\u683c\u8003\u8bd5\uff0c\u5e76\u5728\u4e34\u5e8a\u57f9\u8bad2\u5e74\u540e\u53d6\u5f97\u533b\u5b66\u535a\u58eb\u5b66\u4f4d\u3002\u66fe\u4efb\u4e13\u4e1a\u804c\u5927\u5b66\u5ba2\u5ea7\u6559\u5e08\uff0c\u6301\u6709\u5168\u65e5\u672c\u4ec5\u7ea620\u4eba\u62e5\u6709\u7684\u5b9e\u9a8c\u5ba4\u603b\u76d1\uff08Laboratory 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