{"id":86046,"date":"2024-11-14T13:54:52","date_gmt":"2024-11-14T04:54:52","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/3q26_microduplication_syndrome\/"},"modified":"2026-07-12T21:25:08","modified_gmt":"2026-07-12T12:25:08","slug":"3q26_microduplication_syndrome","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/3q26_microduplication_syndrome\/?lang=zh-hans","title":{"rendered":"3q26\u5fae\u5c0f\u91cd\u590d\u7efc\u5408\u5f81"},"content":{"rendered":"\n<div style=\"border:solid #ffe6e6 0.8rem;background-color: #fff9f9;padding:3% 5%;margin:1rem 0 3rem;\"><div id=\"ez-toc-container\" class=\"ez-toc-v2_0_85 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">\u76ee\u6b21<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle 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class=\"ez-toc-link ez-toc-heading-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/3q26_microduplication_syndrome\/?lang=zh-hans\/#%E5%B8%B8%E8%A7%81%E9%97%AE%E9%A2%98\" >\u5e38\u89c1\u95ee\u9898<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-15\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/3q26_microduplication_syndrome\/?lang=zh-hans\/#Q_3q26%E5%BE%AE%E5%B0%8F%E9%87%8D%E5%A4%8D%E7%BB%BC%E5%90%88%E5%BE%81%E4%BC%9A%E9%81%97%E4%BC%A0%E8%87%AA%E7%88%B6%E6%AF%8D%E5%90%97%EF%BC%9F\" >Q. 3q26\u5fae\u5c0f\u91cd\u590d\u7efc\u5408\u5f81\u4f1a\u9057\u4f20\u81ea\u7236\u6bcd\u5417\uff1f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/3q26_microduplication_syndrome\/?lang=zh-hans\/#Q_%E4%B8%8E3q29%E5%BE%AE%E5%B0%8F%E9%87%8D%E5%A4%8D%E7%BB%BC%E5%90%88%E5%BE%81%E6%98%AF%E5%90%8C%E4%B8%80%E7%A7%8D%E7%96%BE%E7%97%85%E5%90%97%EF%BC%9F\" >Q. \u4e0e3q29\u5fae\u5c0f\u91cd\u590d\u7efc\u5408\u5f81\u662f\u540c\u4e00\u79cd\u75be\u75c5\u5417\uff1f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/3q26_microduplication_syndrome\/?lang=zh-hans\/#Q_%E4%BC%9A%E5%87%BA%E7%8E%B0%E5%93%AA%E4%BA%9B%E7%97%87%E7%8A%B6%EF%BC%9F\" >Q. \u4f1a\u51fa\u73b0\u54ea\u4e9b\u75c7\u72b6\uff1f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-18\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/3q26_microduplication_syndrome\/?lang=zh-hans\/#Q_NIPT%E8%83%BD%E6%9F%A5%E5%87%BA%E8%BF%99%E7%A7%8D%E9%87%8D%E5%A4%8D%E5%90%97%EF%BC%9F\" >Q. NIPT\u80fd\u67e5\u51fa\u8fd9\u79cd\u91cd\u590d\u5417\uff1f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-19\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/3q26_microduplication_syndrome\/?lang=zh-hans\/#Q_%E5%A6%82%E4%BD%95%E8%BF%9B%E8%A1%8C%E7%A1%AE%E8%AF%8A%EF%BC%9F\" >Q. \u5982\u4f55\u8fdb\u884c\u786e\u8bca\uff1f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-20\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/3q26_microduplication_syndrome\/?lang=zh-hans\/#Q_%E6%9C%89%E6%B2%BB%E7%96%97%E6%96%B9%E6%B3%95%E5%90%97%EF%BC%9F%E5%AE%B6%E5%BA%AD%E5%8F%AF%E4%BB%A5%E5%90%91%E5%93%AA%E9%87%8C%E5%92%A8%E8%AF%A2%EF%BC%9F\" >Q. \u6709\u6cbb\u7597\u65b9\u6cd5\u5417\uff1f\u5bb6\u5ead\u53ef\u4ee5\u5411\u54ea\u91cc\u54a8\u8be2\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%91%98%E8%A6%81\"><\/span>\u672c\u6587\u6458\u8981<span class=\"ez-toc-section-end\"><\/span><\/h2><p><strong>3q26\u5fae\u5c0f\u91cd\u590d\u7efc\u5408\u5f81\u662f\u4e00\u79cd\u6781\u4e3a\u7f55\u89c1\u7684\u67d3\u8272\u4f53\u75be\u75c5\uff0c\u53d1\u75c5\u7387\u4e0d\u8db3\u767e\u4e07\u5206\u4e4b\u4e00\uff0c\u75313\u53f7\u67d3\u8272\u4f53\u957f\u81c2\uff08q\u81c2\uff09\u4e0a3q26\u533a\u57df\u7684\u90e8\u5206\u9057\u4f20\u4fe1\u606f\u591a\u51fa\u4e00\u4efd\u62f7\u8d1d\u6240\u81f4\u3002<\/strong>\u53ef\u80fd\u51fa\u73b0\u751f\u957f\u53d1\u80b2\u8fdf\u7f13\u3001\u53d1\u80b2\u8fdf\u7f13\u6216\u667a\u529b\u969c\u788d\u3001\u7279\u5f81\u6027\u9762\u5bb9\u3001\u5fc3\u810f\u30fb\u6ccc\u5c3f\u751f\u6b96\u7cfb\u7edf\u30fb\u9aa8\u9abc\u5f02\u5e38\uff0c\u4ee5\u53ca\u9ab6\u9aa8\u6216\u809b\u95e8\u76f4\u80a0\u5468\u56f4\u7578\u5f62\u7b49\u8868\u73b0\uff0c\u4f46\u91cd\u590d\u533a\u57df\u7684\u8303\u56f4\u4e0e\u6240\u6d89\u57fa\u56e0\u4e0d\u540c\uff0c\u75c7\u72b6\u8868\u73b0\u4e5f\u56e0\u4eba\u800c\u5f02\u3002\u591a\u6570\u75c5\u4f8b\u4e3a\u65b0\u53d1\u53d8\u5316\uff0c\u4f46\u4e5f\u6709\u76f8\u5f53\u6bd4\u4f8b\u7684\u91cd\u590d\u6765\u6e90\u4e8e\u7236\u6bcd\u4e00\u65b9\u7684\u5e73\u8861\u6613\u4f4d\uff0c\u56e0\u6b64\u5728\u8003\u8651\u4e0b\u4e00\u6b21\u598a\u5a20\u65f6\uff0c\u901a\u8fc7\u9057\u4f20\u54a8\u8be2\u786e\u8ba4\u5bb6\u65cf\u67d3\u8272\u4f53\u60c5\u51b5\u4f1a\u5f88\u6709\u5e2e\u52a9\u3002\u8bca\u65ad\u9700\u901a\u8fc7\u67d3\u8272\u4f53\u5fae\u9635\u5217\u68c0\u6d4b\u786e\u5b9a\uff0c\u8be5\u91cd\u590d\u5e76\u975e\u5e38\u89c4NIPT\u7684\u7b5b\u67e5\u8303\u56f4\uff0c\u786e\u8bca\u9700\u8981\u8fdb\u884c\u7f8a\u6c34\u68c0\u67e5\u6216\u7ed2\u6bdb\u53d6\u6837\u68c0\u67e5\u3002\u5c06\u65e9\u671f\u5e72\u9884\u3001\u591a\u5b66\u79d1\u533b\u7597\u7ba1\u7406\u4e0e\u5bb6\u5ead\u652f\u6301\u76f8\u7ed3\u5408\uff0c\u6709\u52a9\u4e8e\u5207\u5b9e\u652f\u6301\u5b69\u5b50\u7684\u751f\u6d3b\u8d28\u91cf\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 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id=\"%E4%BB%80%E4%B9%88%E6%98%AF3q26%E5%BE%AE%E5%B0%8F%E9%87%8D%E5%A4%8D%E7%BB%BC%E5%90%88%E5%BE%81\"><\/span>\u4ec0\u4e48\u662f3q26\u5fae\u5c0f\u91cd\u590d\u7efc\u5408\u5f81<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>3q26\u5fae\u5c0f\u91cd\u590d\u7efc\u5408\u5f81\u662f\u4e00\u79cd\u7f55\u89c1\u75be\u75c5\uff0c\u7531\u4e8e3\u53f7\u67d3\u8272\u4f53\u957f\u81c2\u4e0a\u4e00\u4e2a\u540d\u4e3a3q26\u7684\u7ec6\u5c0f\u533a\u57df\u7684\u9057\u4f20\u4fe1\u606f\u6bd4\u6b63\u5e38\u591a\u51fa\u4e00\u4efd\u62f7\u8d1d\uff0c\u4ece\u800c\u5bf9\u751f\u957f\u53d1\u80b2\u3001\u5fc3\u810f\u3001\u9aa8\u9abc\u7b49\u591a\u65b9\u9762\u4ea7\u751f\u5f71\u54cd\u3002<\/strong>\u4eba\u7c7b\u7684\u9057\u4f20\u4fe1\u606f\u50a8\u5b58\u572846\u6761\u67d3\u8272\u4f53\u4e2d\uff0c3\u53f7\u67d3\u8272\u4f53\u662f\u5176\u4e2d\u4e4b\u4e00\uff0c\u5176\u957f\u81c2q26\u533a\u57df\u6392\u5217\u7740\u591a\u4e2a\u4e0e\u5927\u8111\u53d1\u80b2\u53ca\u5668\u5b98\u5f62\u6210\u76f8\u5173\u7684\u57fa\u56e0\u3002<\/p>\n\n\n\n<p>&#8220;\u5fae\u5c0f\u91cd\u590d&#8221;\u662f\u6307\u67d3\u8272\u4f53\u4e2d\u4e00\u6bb5\u7528\u663e\u5fae\u955c\u4e5f\u96be\u4ee5\u5bdf\u89c9\u7684\u6781\u5c0f\u8303\u56f4\u51fa\u73b0\u4e86\u591a\u4f59\u7684\u62f7\u8d1d\u3002\u91cd\u590d\u533a\u57df\u7684\u5927\u5c0f\u4e0e\u6240\u6d89\u57fa\u56e0\u79cd\u7c7b\u4e0d\u540c\uff0c\u75c7\u72b6\u8868\u73b0\u4e5f\u4f1a\u6709\u6240\u5dee\u5f02\uff0c\u8fd9\u4e5f\u662f\u4e3a\u4ec0\u4e48\u5373\u4fbf\u8bca\u65ad\u540d\u79f0\u76f8\u540c\uff0c\u4e0d\u540c\u5b69\u5b50\u7684\u8868\u73b0\u4e5f\u4f1a\u4e0d\u4e00\u6837\u3002\u56fd\u9645\u7f55\u89c1\u75c5\u6570\u636e\u5e93\u663e\u793a\uff0c\u8be5\u75c5\u7684\u60a3\u75c5\u7387\u4e0d\u8db3\u767e\u4e07\u5206\u4e4b\u4e00\uff0c\u56fd\u5185\u5916\u7684\u786e\u5207\u53d1\u75c5\u7387\u76ee\u524d\u90fd\u5c1a\u4e0d\u6e05\u695a\u3002<\/p>\n\n\n\n<p>\u6b64\u5916\uff0c3\u53f7\u67d3\u8272\u4f53\u957f\u81c2\u96643q26\u5916\uff0c\u8fd8\u5b58\u5728\u4e00\u4e2a\u72ec\u7acb\u62a5\u544a\u76843q29\u5fae\u5c0f\u91cd\u590d\u30fb\u5fae\u5c0f\u7f3a\u5931\u7efc\u5408\u5f81\u533a\u57df\u3002\u7531\u4e8e\u540d\u79f0\u548c\u4f4d\u7f6e\u76f8\u8fd1\uff0c\u4e24\u8005\u5bb9\u6613\u88ab\u6df7\u6dc6\uff0c\u4f463q26\u4e0e3q29\u662f\u4f4d\u7f6e\u548c\u76f8\u5173\u57fa\u56e0\u90fd\u4e0d\u540c\u7684\u4e24\u79cd\u75be\u75c5\u3002\u8bf7\u52a1\u5fc5\u4ed4\u7ec6\u6838\u5bf9\u68c0\u6d4b\u62a5\u544a\u4e0a\u8bb0\u8f7d\u7684\u533a\u57df\u7f16\u53f7\uff0c\u4e0d\u8981\u614c\u4e71\u3002<\/p>\n\n\n\n<figure class=\"wp-block-image aligncenter\" style=\"margin:1.5rem auto;\">\n<svg role=\"img\" aria-label=\"\u5c55\u793a3\u53f7\u67d3\u8272\u4f53\u957f\u81c2\u4e0a3q26\u533a\u57df\u90e8\u5206\u9057\u4f20\u4fe1\u606f\u88ab\u591a\u590d\u5236\u4e00\u4efd\u3001\u5f62\u62103q26\u5fae\u5c0f\u91cd\u590d\u7efc\u5408\u5f81\u7684\u793a\u610f\u56fe\" viewBox=\"0 0 720 260\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" style=\"max-width:720px;width:100%;height:auto;font-family:sans-serif;\">\n  <rect x=\"0\" y=\"0\" width=\"720\" height=\"260\" fill=\"#fff9fb\"\/>\n  <text x=\"360\" y=\"40\" text-anchor=\"middle\" font-size=\"20\" fill=\"#5a2b3a\">3q26\u5fae\u5c0f\u91cd\u590d\u793a\u610f\u56fe<\/text>\n  <rect x=\"90\" y=\"70\" width=\"120\" height=\"150\" rx=\"14\" fill=\"#f6b8cd\"\/>\n  <text x=\"150\" y=\"60\" text-anchor=\"middle\" font-size=\"15\" fill=\"#5a2b3a\">3\u53f7\u67d3\u8272\u4f53<\/text>\n  <text x=\"150\" y=\"105\" text-anchor=\"middle\" font-size=\"14\" fill=\"#5a2b3a\">\u957f\u81c2\uff08q\uff09<\/text>\n  <rect x=\"110\" y=\"120\" width=\"80\" height=\"24\" rx=\"6\" fill=\"#e8608a\"\/>\n  <text x=\"150\" y=\"137\" text-anchor=\"middle\" font-size=\"13\" fill=\"#ffffff\">q26<\/text>\n  <text x=\"150\" y=\"200\" text-anchor=\"middle\" font-size=\"14\" fill=\"#5a2b3a\">\u77ed\u81c2\uff08p\uff09<\/text>\n  <text x=\"300\" y=\"145\" text-anchor=\"middle\" font-size=\"26\" fill=\"#9a6070\">\u2192<\/text>\n  <rect x=\"360\" y=\"70\" width=\"120\" height=\"150\" rx=\"14\" fill=\"#fbe1eb\"\/>\n  <text x=\"420\" y=\"60\" text-anchor=\"middle\" font-size=\"15\" fill=\"#5a2b3a\">\u90e8\u5206\u533a\u57df\u91cd\u590d<\/text>\n  <rect x=\"380\" y=\"105\" width=\"80\" height=\"20\" rx=\"6\" fill=\"#ffffff\" stroke=\"#e8608a\" stroke-dasharray=\"4 3\"\/>\n  <text x=\"420\" y=\"119\" text-anchor=\"middle\" font-size=\"11\" fill=\"#9a6070\">q26\uff08\u62f7\u8d1d1\uff09<\/text>\n  <rect x=\"380\" y=\"130\" width=\"80\" height=\"20\" rx=\"6\" fill=\"#ffffff\" stroke=\"#e8608a\" stroke-dasharray=\"4 3\"\/>\n  <text x=\"420\" y=\"144\" text-anchor=\"middle\" font-size=\"11\" fill=\"#9a6070\">q26\uff08\u62f7\u8d1d2\uff09<\/text>\n  <text x=\"600\" y=\"130\" text-anchor=\"middle\" font-size=\"15\" fill=\"#5a2b3a\">\u53ef\u80fd\u5f71\u54cd\u751f\u957f\u3001<\/text>\n  <text x=\"600\" y=\"155\" text-anchor=\"middle\" font-size=\"15\" fill=\"#5a2b3a\">\u53d1\u80b2\u53ca\u5fc3\u810f<\/text>\n<\/svg>\n<figcaption>3\u53f7\u67d3\u8272\u4f53\u957f\u81c2q26\u533a\u57df\u90e8\u5206\u9057\u4f20\u4fe1\u606f\u591a\u51fa\u4e00\u4efd\u62f7\u8d1d\u7684\u793a\u610f\u56fe<\/figcaption>\n<\/figure>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%BF%99%E6%98%AF%E4%B8%80%E7%A7%8D%E5%A4%9A%E7%BD%95%E8%A7%81%E7%9A%84%E7%96%BE%E7%97%85\"><\/span><strong>\u8fd9\u662f\u4e00\u79cd\u591a\u7f55\u89c1\u7684\u75be\u75c5<\/strong><span 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-microdeletion-risks\/?lang=zh-hans\">\u5fae\u5c0f\u7f3a\u5931\u4e0eNIPT\u98ce\u9669<\/a>\u7684\u6587\u7ae0\u3002\u638c\u63e1\u6574\u4f53\u6982\u51b5\u6709\u52a9\u4e8e\u66f4\u51b7\u9759\u5730\u6574\u7406\u773c\u524d\u7684\u4fe1\u606f\u3002\u540c\u4e00\u67613\u53f7\u67d3\u8272\u4f53\u4e0a\u3001\u66f4\u9760\u8fd1\u77ed\u81c2\u4e00\u4fa7\u76843q13.31\u533a\u57df\u53d1\u751f\u7684\u53d8\u5316\uff0c\u6211\u4eec\u5728<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/3q_13_31\/?lang=zh-hans\">3q13.31\u7f3a\u5931\u7efc\u5408\u5f81<\/a>\u4e00\u6587\u4e2d\u6709\u8be6\u7ec6\u8bf4\u660e\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/3q_13_31\/?lang=zh-hans\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">3q13.31\u6b20\u5931\u75c7\u5019\u7fa4\u306b\u3064\u3044\u3066 <\/div>\n          <div class=\"blog-card-excerpt\">3q13.31\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u3001\u7b2c3\u67d3\u8272\u4f53\u306e\u9577\u8155\u306e\u4e00\u90e8\u304c\u6b20\u5931\u3059\u308b\u3053\u3068\u306b\u3088\u308b\u5e0c\u5c11\u75be\u60a3\u3067\u3001\u767a\u9054\u9045\u5ef6\u3084\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u3001\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u306a\u3069\u304c\u4e3b\u306a\u75c7\u72b6\u3067\u3059\u3002\u95a2\u9023...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%97%85%E5%9B%A0%EF%BC%9ATBL1XR1%E4%B8%8ESOX2%E5%9F%BA%E5%9B%A0%E7%9A%84%E4%BD%9C%E7%94%A8\"><\/span>\u75c5\u56e0\uff1aTBL1XR1\u4e0eSOX2\u57fa\u56e0\u7684\u4f5c\u7528<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>3q26\u5fae\u5c0f\u91cd\u590d\u7efc\u5408\u5f81\u7684\u4e3b\u8981\u81f4\u75c5\u5019\u9009\u539f\u56e0\uff0c\u662f\u91cd\u590d\u533a\u57df\u5185\u6240\u542b\u7684TBL1XR1\u3001SOX2\u7b49\u57fa\u56e0\u7684\u62f7\u8d1d\u6570\u589e\u52a0\uff08\u57fa\u56e0\u5242\u91cf\u589e\u52a0\uff09\u3002<\/strong>TBL1XR1\u57fa\u56e0\u4f4d\u4e8e3q26.32\u4f4d\u7f6e\uff0c\u5728\u7ec6\u80de\u5185\u4e0e\u5176\u4ed6\u86cb\u767d\u8d28\u5f62\u6210\u590d\u5408\u4f53\uff0c\u8d77\u5230\u8c03\u8282\u57fa\u56e0\u8868\u8fbe\u7684\u4f5c\u7528\u3002\u533b\u5b66\u6587\u732e\u62a5\u544a\u663e\u793a\uff0c\u5305\u542b\u8be5\u57fa\u56e0\u7684\u533a\u57df\u53d1\u751f\u91cd\u590d\u65f6\uff0c\u53ef\u5f15\u53d1\u667a\u529b\u969c\u788d\u30fb\u5b66\u4e60\u56f0\u96be\uff0c\u90e8\u5206\u60a3\u8005\u8fd8\u53ef\u80fd\u4f34\u6709\u5b64\u72ec\u75c7\u8c31\u7cfb\u969c\u788d\uff08\u81ea\u95ed\u75c7\u8c31\u7cfb\u969c\u788d\uff09\u7279\u5f81\u3001\u542c\u529b\u969c\u788d\u3001\u9752\u6625\u671f\u53d1\u80b2\u5ef6\u8fdf\u7b49\u8868\u73b0\u7684\u75be\u75c5\u3002\u5728\u540c\u4e00TBL1XR1\u533a\u57df\uff0c\u82e5\u8be5\u90e8\u5206\u7f3a\u5931\u800c\u975e\u91cd\u590d\uff0c\u5219\u4f1a\u5f15\u53d1\u53e6\u4e00\u79cd\u88ab\u79f0\u4e3a&#8221;3q26.32\u5fae\u5c0f\u7f3a\u5931\u7efc\u5408\u5f81&#8221;\u7684\u75be\u75c5\uff0c\u4e8c\u8005\u88ab\u89c6\u4e3a\u91cd\u590d\u4e0e\u7f3a\u5931\u8fd9\u4e24\u79cd\u76f8\u53cd\u53d8\u5316\u5bfc\u81f4\u76f8\u4f3c\u7cfb\u7edf\u75c7\u72b6\u7684\u4e00\u5bf9\u75be\u75c5\u3002<\/p>\n\n\n\n<p>SOX2\u57fa\u56e0\u4f4d\u4e8e3q26.33\uff0c\u6bd4TBL1XR1\u66f4\u9760\u8fd1\u67d3\u8272\u4f53\u672b\u7aef\uff0c\u662f\u4e0e\u5927\u8111\u548c\u773c\u775b\u53d1\u80b2\u5bc6\u5207\u76f8\u5173\u7684\u57fa\u56e0\u3002\u7531\u4e8e\u5b83\u5177\u6709\u7ef4\u6301\u795e\u7ecf\u524d\u4f53\u7ec6\u80de\u3001\u5e76\u63a8\u52a8\u5176\u5411\u795e\u7ecf\u7ec6\u80de\u5206\u5316\u7684\u4f5c\u7528\uff0c\u5f53\u91cd\u590d\u8303\u56f4\u6269\u5927\u5230\u5305\u542bSOX2\u7684\u66f4\u5e7f\u533a\u57df\u65f6\uff0c\u636e\u62a5\u544a\u53ef\u4f34\u6709\u66f4\u4e25\u91cd\u7684\u53d1\u80b2\u8fdf\u7f13\u3001\u667a\u529b\u969c\u788d\u3001\u5b64\u72ec\u75c7\u8c31\u7cfb\u969c\u788d\u3001\u766b\u75eb\u7b49\u8868\u73b0\u3002\u53ef\u4ee5\u8fd9\u6837\u7406\u89e3\uff1a\u91cd\u590d\u8303\u56f4\u662f\u5c40\u9650\u5728TBL1XR1\u5468\u8fb9\uff0c\u8fd8\u662f\u6269\u5c55\u5230SOX2\uff0c\u4f1a\u5f71\u54cd\u75c7\u72b6\u7684\u4e25\u91cd\u7a0b\u5ea6\u53ca\u7ec4\u5408\u65b9\u5f0f\u3002<\/p>\n\n\n\n<p>\u5305\u542b3q26\u5728\u5185\u7684\u66f4\u5927\u8303\u56f4\u91cd\u590d\uff0c\u5728\u533b\u5b66\u4e0a\u6709\u65f6\u4e5f\u88ab\u5f52\u5165&#8221;3q\u91cd\u590d\u7efc\u5408\u5f81\uff08dup(3q)\uff09&#8221;\u8fd9\u4e00\u66f4\u5927\u7684\u75be\u75c5\u6846\u67b6\u4e2d\u8ba8\u8bba\u3002\u8be5\u6846\u67b6\u76f8\u5173\u7684\u6587\u732e\u7efc\u8ff0\u6307\u51fa\uff0c\u9ab6\u9aa8\u5f62\u6210\u5f02\u5e38\u3001\u809b\u95e8\u30fb\u76f4\u80a0\u7578\u5f62\u7b49\u51fa\u73b0\u5728\u8eab\u4f53\u4e0b\u90e8\uff08\u5c3e\u4fa7\uff09\u7684\u7578\u5f62\uff0c\u662f3q\u91cd\u590d\u7efc\u5408\u5f81\u4e2d\u53cd\u590d\u88ab\u63d0\u53ca\u7684\u7279\u5f81\u4e4b\u4e00\u3002\u9ab6\u9aa8\u30fb\u809b\u95e8\u76f4\u80a0\u7578\u5f62\u4e0e\u6211\u4eec\u5728<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/currarino-syndrome\/\">Currarino\u7efc\u5408\u5f81<\/a>\uff08\u65e5\u6587\u6587\u7ae0\uff09\u4e00\u6587\u4e2d\u4ecb\u7ecd\u7684\u75c7\u72b6\u6709\u90e8\u5206\u91cd\u53e0\uff0c\u5efa\u8bae\u4e00\u5e76\u9605\u8bfb\u4ee5\u52a0\u6df1\u7406\u89e3\u3002<\/p>\n\n\n\n<p>\u5173\u4e8e\u75c5\u56e0\uff0c\u8fd8\u6709\u4e00\u70b9\u503c\u5f97\u4e86\u89e3\uff0c\u90a3\u5c31\u662f\u9057\u4f20\u7684\u4f20\u9012\u65b9\u5f0f\u3002\u5173\u4e8e3q\u91cd\u590d\u7efc\u5408\u5f81\u7684\u6587\u732e\u7efc\u8ff0\u663e\u793a\uff0c\u7ea6\u4e03\u6210\u7684\u62a5\u544a\u75c5\u4f8b\u6e90\u4e8e\u7236\u6bcd\u4e00\u65b9\u643a\u5e26\u7684&#8221;\u5e73\u8861\u6613\u4f4d&#8221;\uff08\u67d3\u8272\u4f53\u90e8\u5206\u7247\u6bb5\u53d1\u751f\u4ea4\u6362\uff0c\u4f46\u6574\u4f53\u9057\u4f20\u4fe1\u606f\u91cf\u672a\u53d8\uff0c\u672c\u4eba\u4e0d\u8868\u73b0\u51fa\u75c7\u72b6\u7684\u72b6\u6001\uff09\uff0c\u5176\u4f59\u7ea6\u4e09\u6210\u4e3a\u65b0\u53d1\u53d8\u5316\uff08\u65b0\u751f\u7a81\u53d8\uff09\u3002\u6709\u4e9b\u75be\u75c5\uff08\u59828q12\u533a\u57df\u91cd\u590d\uff09\u4ee5\u65b0\u751f\u7a81\u53d8\u4e3a\u4e3b\uff0c\u4e5f\u6709\u50cf3q26\u8fd9\u6837\u7236\u6bcd\u9057\u4f20\u75c5\u4f8b\u5360\u4e00\u5b9a\u6bd4\u4f8b\u7684\u75be\u75c5\uff0c\u5404\u75be\u75c5\u7684\u60c5\u51b5\u6709\u6240\u4e0d\u540c\u3002\u67d3\u8272\u4f53\u4f4d\u7f6e\u4e0d\u540c\uff0c\u9057\u4f20\u4f20\u9012\u7684\u503e\u5411\u4e5f\u4f1a\u4e0d\u540c\uff0c\u4f46\u5728\u75c5\u56e0\u7684\u601d\u8003\u65b9\u5f0f\u4e0e\u68c0\u6d4b\u6d41\u7a0b\u4e0a\u6709\u8bb8\u591a\u5171\u901a\u4e4b\u5904\u3002\u5173\u4e8e\u4ee5\u7c7b\u4f3c\u673a\u5236\u53d1\u751f\u7684\u53e6\u4e00\u6761\u67d3\u8272\u4f53\u91cd\u590d\uff0c\u53ef\u53c2\u8003\u6211\u4eec\u5173\u4e8e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/8q12-microduplication-syndrome\/?lang=zh-hans\">8q12\u533a\u57df\u5fae\u5c0f\u91cd\u590d\u7efc\u5408\u5f81<\/a>\u7684\u6587\u7ae0\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/8q12-microduplication-syndrome\/?lang=zh-hans\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">8q12\u5fae\u5c0f\u91cd\u8907\u75c7\u5019\u7fa4 <\/div>\n          <div class=\"blog-card-excerpt\">8q12\u5fae\u5c0f\u91cd\u8907\u75c7\u5019\u7fa4\u306e\u539f\u56e0\u3001\u4e3b\u306a\u75c7\u72b6\u3001\u6cbb\u7642\u6cd5\u3001\u4e88\u5f8c\u3001\u305d\u3057\u3066\u5bb6\u65cf\u304c\u5229\u7528\u3067\u304d\u308b\u652f\u63f4\u65b9\u6cd5\u306b\u3064\u3044\u3066\u89e3\u8aac\u3057\u307e\u3059\u3002\u9069\u5207\u306a\u7642\u80b2\u3068\u533b\u7642\u7ba1\u7406\u3067\u751f\u6d3b\u306e\u8cea\u3092\u5411\u4e0a...<\/div>\n      <\/div>\n    <\/a>\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%E4%B8%8E%E4%BD%93%E5%BE%81\"><\/span>\u4e3b\u8981\u75c7\u72b6\u4e0e\u4f53\u5f81<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>3q26\u5fae\u5c0f\u91cd\u590d\u7efc\u5408\u5f81\u53ef\u80fd\u51fa\u73b0\u51fa\u751f\u524d\u540e\u751f\u957f\u53d1\u80b2\u8fdf\u7f13\u3001\u53d1\u80b2\u8fdf\u7f13\u6216\u667a\u529b\u969c\u788d\u3001\u7279\u5f81\u6027\u9762\u5bb9\u3001\u5fc3\u810f\u5f02\u5e38\u3001\u6ccc\u5c3f\u751f\u6b96\u7cfb\u7edf\u6216\u9aa8\u9abc\u5f02\u5e38\u3001\u9ab6\u9aa8\u30fb\u809b\u95e8\u76f4\u80a0\u5468\u56f4\u7578\u5f62\u7b49\u8868\u73b0\u3002<\/strong>\u4f46\u5e76\u975e\u6240\u6709\u5b69\u5b50\u90fd\u4f1a\u51fa\u73b0\u76f8\u540c\u7684\u75c7\u72b6\u7ec4\u5408\uff0c\u91cd\u590d\u533a\u57df\u7684\u8303\u56f4\u4e0e\u6240\u6d89\u57fa\u56e0\u4e0d\u540c\uff0c\u6bcf\u4e2a\u5b69\u5b50\u7684\u8868\u73b0\u4e5f\u5404\u4e0d\u76f8\u540c\u3002<\/p>\n\n\n\n<p>\u4e0b\u56fe\u6574\u7406\u4e86\u53ef\u80fd\u51fa\u73b0\u7684\u4e3b\u8981\u75c7\u72b6\u3002\u8fd9\u4ec5\u662f&#8221;\u53ef\u80fd\u53d1\u751f\u7684\u60c5\u51b5&#8221;\u6e05\u5355\uff0c\u5e76\u4e0d\u610f\u5473\u7740\u4e00\u5b9a\u4f1a\u5168\u90e8\u51fa\u73b0\u3002\u8bf7\u5c06\u5176\u4f5c\u4e3a\u53c2\u8003\uff0c\u4e0e\u5b69\u5b50\u7684\u5b9e\u9645\u60c5\u51b5\u5bf9\u7167\uff0c\u5e76\u628a\u5173\u5fc3\u7684\u9879\u76ee\u4e0e\u4e3b\u6cbb\u533b\u751f\u6c9f\u901a\u3002<\/p>\n\n\n\n<figure class=\"wp-block-image aligncenter\" style=\"margin:1.5rem auto;\">\n<svg role=\"img\" aria-label=\"\u5c063q26\u5fae\u5c0f\u91cd\u590d\u7efc\u5408\u5f81\u53ef\u80fd\u51fa\u73b0\u7684\u4e3b\u8981\u75c7\u72b6\u6574\u7406\u4e3a\u751f\u957f\u53d1\u80b2\u3001\u5fc3\u810f\u4e0e\u6ccc\u5c3f\u751f\u6b96\u7cfb\u7edf\u3001\u9aa8\u9abc\u3001\u9ab6\u9aa8\u4e0e\u809b\u95e8\u76f4\u80a0\u56db\u7c7b\u7684\u793a\u610f\u56fe\" viewBox=\"0 0 720 300\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" style=\"max-width:720px;width:100%;height:auto;font-family:sans-serif;\">\n  <rect x=\"0\" y=\"0\" width=\"720\" height=\"300\" fill=\"#fff9fb\"\/>\n  <text x=\"360\" y=\"38\" text-anchor=\"middle\" font-size=\"20\" fill=\"#5a2b3a\">\u53ef\u80fd\u51fa\u73b0\u7684\u4e3b\u8981\u75c7\u72b6<\/text>\n  <rect x=\"40\" y=\"60\" width=\"310\" height=\"95\" rx=\"12\" fill=\"#f6b8cd\"\/>\n  <text x=\"195\" y=\"92\" text-anchor=\"middle\" font-size=\"17\" fill=\"#5a2b3a\">\u751f\u957f\u53d1\u80b2\u65b9\u9762<\/text>\n  <text 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class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%AA%B6%E9%AA%A8%E3%83%BB%E8%82%9B%E9%97%A8%E7%9B%B4%E8%82%A0%E5%91%A8%E5%9B%B4%E7%95%B8%E5%BD%A2\"><\/span><strong>\u9ab6\u9aa8\u30fb\u809b\u95e8\u76f4\u80a0\u5468\u56f4\u7578\u5f62<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5728\u5305\u542b3q26\u5728\u5185\u7684\u66f4\u5927\u8303\u56f4\u91cd\u590d\u4e2d\uff0c\u5df2\u62a5\u544a\u6709\u9ab6\u9aa8\u5f62\u6210\u5f02\u5e38\u3001\u809b\u95e8\u30fb\u76f4\u80a0\u7578\u5f62\uff0c\u4ee5\u53ca\u5c3e\u9aa8\u6df1\u5904\u6b8b\u7559\u80bf\u7269\u6837\u7ec4\u7ec7\u7684\u7578\u5f62\u7c7b\u578b\u3002\u8fd9\u7c7b\u5c3e\u4fa7\u7578\u5f62\u662f3q\u91cd\u590d\u7efc\u5408\u5f81\u8fd9\u4e00\u5927\u6846\u67b6\u4e0b\u53cd\u590d\u88ab\u6307\u51fa\u7684\u7279\u5f81\u4e4b\u4e00\u3002\u7c7b\u4f3c\u7684\u75c7\u72b6\u7ec4\u5408\u4e5f\u53ef\u89c1\u4e8e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/currarino-syndrome\/\">Currarino\u7efc\u5408\u5f81<\/a>\uff08\u65e5\u6587\u6587\u7ae0\uff09\u8fd9\u4e00\u72ec\u7acb\u75be\u75c5\uff0c\u4f46\u81f4\u75c5\u57fa\u56e0\u548c\u53d1\u75c5\u673a\u5236\u5e76\u4e0d\u76f8\u540c\u3002\u5373\u4f7f\u75c7\u72b6\u7ec4\u5408\u76f8\u4f3c\uff0c\u4e0d\u540c\u75be\u75c5\u540d\u79f0\u5728\u9057\u4f20\u4f20\u9012\u65b9\u5f0f\u548c\u9884\u540e\u4e0a\u4e5f\u4f1a\u6709\u6240\u4e0d\u540c\uff0c\u5efa\u8bae\u5411\u4e3b\u6cbb\u533b\u751f\u6216\u4e34\u5e8a\u9057\u4f20\u5b66\u4e13\u79d1\u533b\u751f\u786e\u8ba4\uff0c\u76ee\u524d\u662f\u6309\u54ea\u79cd\u75be\u75c5\u8fdb\u884c\u968f\u8bbf\u7684\uff0c\u4ee5\u4fbf\u5b89\u5fc3\u3002<\/p>\n\n\n\n<p>\u5982\u4f55\u770b\u5f85\u53d1\u80b2\u8fdf\u7f13\uff0c\u662f\u8bb8\u591a\u4eba\u4ece\u5b55\u671f\u5c31\u5f00\u59cb\u5173\u6ce8\u7684\u8bdd\u9898\u3002\u5b55\u671f\u7684\u601d\u8003\u65b9\u5f0f\uff0c\u53ef\u53c2\u8003\u6211\u4eec\u5173\u4e8e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/intellectual-disability-risk-pregnancy\/\">\u667a\u529b\u969c\u788d\u4e0e\u598a\u5a20\u98ce\u9669<\/a>\uff08\u65e5\u6587\u6587\u7ae0\uff09\u7684\u6574\u7406\u6587\u7ae0\u3002\u6b63\u786e\u7684\u77e5\u8bc6\u6709\u52a9\u4e8e\u7f13\u89e3\u8fc7\u5ea6\u7684\u4e0d\u5b89\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%AF%8A%E6%96%AD%E6%96%B9%E6%B3%95%EF%BC%9ANIPT%E4%B8%8E%E7%A1%AE%E8%AF%8A%E6%A3%80%E6%B5%8B%E7%9A%84%E5%AE%9A%E4%BD%8D\"><\/span>\u8bca\u65ad\u65b9\u6cd5\uff1aNIPT\u4e0e\u786e\u8bca\u68c0\u6d4b\u7684\u5b9a\u4f4d<span 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>\uff08\u901a\u8fc7\u8840\u6db2\u68c0\u6d4b\uff09<\/text>\n  <text x=\"190\" y=\"152\" text-anchor=\"middle\" font-size=\"13\" fill=\"#9a6070\">\u5fae\u5c0f\u91cd\u590d\u539f\u5219\u4e0a\u4e0d\u5728\u8303\u56f4\u5185<\/text>\n  <text x=\"190\" y=\"174\" text-anchor=\"middle\" font-size=\"13\" fill=\"#9a6070\">\u6269\u5c55\u68c0\u6d4b\u8986\u76d6\u8303\u56f4\u4e5f\u6709\u9650<\/text>\n  <text x=\"190\" y=\"196\" text-anchor=\"middle\" font-size=\"13\" fill=\"#9a6070\">\u4ec5\u63d0\u793a\u53ef\u80fd\u6027<\/text>\n  <text x=\"360\" y=\"145\" text-anchor=\"middle\" font-size=\"24\" fill=\"#9a6070\">\u2192<\/text>\n  <rect x=\"380\" y=\"65\" width=\"300\" height=\"150\" rx=\"12\" fill=\"#f6b8cd\"\/>\n  <text x=\"530\" y=\"98\" text-anchor=\"middle\" font-size=\"17\" fill=\"#5a2b3a\">\u786e\u8bca\u68c0\u6d4b<\/text>\n  <text x=\"530\" y=\"128\" text-anchor=\"middle\" font-size=\"14\" fill=\"#5a2b3a\">\u7f8a\u6c34\u68c0\u67e5\u30fb\u7ed2\u6bdb\u53d6\u6837\u68c0\u67e5<\/text>\n  <text x=\"530\" y=\"152\" text-anchor=\"middle\" font-size=\"14\" fill=\"#5a2b3a\">\uff0b\u67d3\u8272\u4f53\u5fae\u9635\u5217\u68c0\u6d4b<\/text>\n  <text x=\"530\" y=\"182\" text-anchor=\"middle\" font-size=\"13\" fill=\"#9a6070\">\u786e\u8ba4\u91cd\u590d\u7684\u5177\u4f53\u8303\u56f4<\/text>\n<\/svg>\n<figcaption><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>\uff08\u975e\u786e\u5b9a\u6027\u68c0\u6d4b\uff09\u4e0e\u786e\u8bca\u68c0\u6d4b\u5728\u5b9a\u4f4d\u4e0a\u7684\u533a\u522b<\/figcaption>\n<\/figure>\n\n\n\n<p>\u4e0b\u8868\u4e5f\u5bf9\u5404\u9879\u68c0\u6d4b\u7684\u6027\u8d28\u8fdb\u884c\u4e86\u6574\u7406\uff0c\u5355\u72ec\u9605\u8bfb\u4e5f\u80fd\u7406\u89e3\u5176\u542b\u4e49\u3002\u4e86\u89e3\u6bcf\u9879\u68c0\u6d4b\u80fd\u544a\u8bc9\u6211\u4eec\u4ec0\u4e48\u3001\u4e0d\u80fd\u544a\u8bc9\u6211\u4eec\u4ec0\u4e48\uff0c\u6709\u52a9\u4e8e\u5728\u62ff\u5230\u7ed3\u679c\u65f6\u4fdd\u6301\u51b7\u9759\uff0c\u800c\u4e0d\u88ab\u7ed3\u679c\u5de6\u53f3\u60c5\u7eea\u3002<\/p>\n\n\n\n<figure class=\"wp-table-block\"><table><thead><tr><th>\u68c0\u6d4b<\/th><th>\u68c0\u6d4b\u65b9\u5f0f<\/th><th>\u5b9a\u4f4d<\/th><th>\u5bf9\u5fae\u5c0f\u91cd\u590d\u7684\u5e94\u5bf9<\/th><\/tr><\/thead><tbody><tr><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a><\/td><td>\u6bcd\u4f53\u8840\u6db2<\/td><td>\u975e\u786e\u5b9a\u6027\u68c0\u6d4b<\/td><td>\u539f\u5219\u4e0a\u4e0d\u8986\u76d6\uff0c\u6269\u5c55\u7248\u8986\u76d6\u533a\u57df\u4e5f\u6709\u9650<\/td><\/tr><tr><td>\u7ed2\u6bdb\u53d6\u6837\u68c0\u67e5<\/td><td>\u91c7\u96c6\u80ce\u76d8\u7ec4\u7ec7<\/td><td>\u786e\u8bca\u68c0\u6d4b\uff08\u5b55\u65e9\u671f\uff09<\/td><td>\u53ef\u5bf9\u91c7\u96c6\u7684\u7ec6\u80de\u8fdb\u884c\u5fae\u9635\u5217\u5206\u6790<\/td><\/tr><tr><td>\u7f8a\u6c34\u68c0\u67e5<\/td><td>\u91c7\u96c6\u7f8a\u6c34<\/td><td>\u786e\u8bca\u68c0\u6d4b\uff08\u5b55\u4e2d\u671f\uff09<\/td><td>\u53ef\u5bf9\u91c7\u96c6\u7684\u7ec6\u80de\u8fdb\u884c\u5fae\u9635\u5217\u5206\u6790<\/td><\/tr><tr><td>\u67d3\u8272\u4f53\u5fae\u9635\u5217\u68c0\u6d4b<\/td><td>\u5206\u6790\u7ec6\u80deDNA<\/td><td>\u7528\u4e8e\u786e\u8bca\u5fae\u5c0f\u91cd\u590d<\/td><td>\u53ef\u7ec6\u81f4\u786e\u8ba4\u91cd\u590d\u7684\u5177\u4f53\u8303\u56f4<\/td><\/tr><\/tbody><\/table><figcaption>NIPT\u4e0e\u786e\u8bca\u68c0\u6d4b\u30fb\u5fae\u9635\u5217\u68c0\u6d4b\u7684\u6bd4\u8f83\uff08\u68c0\u6d4b\u65b9\u5f0f\u4e0e\u5b9a\u4f4d\uff09<\/figcaption><\/figure>\n\n\n\n<p>\u786e\u8bca\u68c0\u6d4b\u4f34\u968f\u6781\u5c0f\u7684\u6d41\u4ea7\u98ce\u9669\uff0c\u4f5c\u4e3a\u53c2\u8003\uff0c\u7f8a\u6c34\u68c0\u67e5\u7ea6\u4e3a0.3%\uff0c\u7ed2\u6bdb\u53d6\u6837\u68c0\u67e5\u7ea6\u4e3a1%\u3002\u662f\u5426\u63a5\u53d7\u68c0\u6d4b\u7531\u672c\u4eba\u81ea\u4e3b\u51b3\u5b9a\u3002\u5982\u679c\u72b9\u8c6b\u4e0d\u51b3\uff0c\u53ef\u53c2\u8003\u6211\u4eec\u5173\u4e8e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniotic-fluid-test-about\/?lang=zh-hans\">\u7f8a\u6c34\u68c0\u67e5\u8be6\u89e3<\/a>\u7684\u6587\u7ae0\u52a0\u4ee5\u786e\u8ba4\uff0c\u5e76\u5728\u9057\u4f20\u54a8\u8be2\u4e2d\u8fdb\u4e00\u6b65\u5546\u8c08\u3002\u5173\u4e8eNIPT\u80fd\u67e5\u51fa\u54ea\u4e9b\u60c5\u51b5\uff0c\u53ef\u53c2\u8003\u6211\u4eec\u5173\u4e8e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-detectable-conditions\/?lang=zh-hans\">NIPT\u53ef\u67e5\u51fa\u7684\u5f02\u5e38<\/a>\u7684\u6587\u7ae0\u3002<\/p>\n\n\n\n\n\n\n<div style=\"text-align:center;margin:2em 0;\"><a href=\"https:\/\/mypage-nipt-reservation.hiro-clinic.or.jp\/registration\" target=\"_blank\" rel=\"noopener\" style=\"display:inline-block;padding:0.8em 2em;background:#e8608a;color:#fff;border-radius:30px;text-decoration:none;font-weight:bold;\">\u9884\u7ea6Hiro Clinic NIPT\u68c0\u6d4b<\/a><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%97%E4%BC%A0%E5%92%A8%E8%AF%A2%E4%B8%8E%E5%AE%B6%E6%97%8F%E6%80%A7%E9%87%8D%E5%A4%8D%E7%9A%84%E7%A1%AE%E8%AE%A4\"><\/span>\u9057\u4f20\u54a8\u8be2\u4e0e\u5bb6\u65cf\u6027\u91cd\u590d\u7684\u786e\u8ba4<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u5305\u542b3q26\u5728\u5185\u76843q\u91cd\u590d\u7efc\u5408\u5f81\uff0c\u7ea6\u4e03\u6210\u62a5\u544a\u75c5\u4f8b\u6e90\u4e8e\u7236\u6bcd\u4e00\u65b9\u643a\u5e26\u7684\u5e73\u8861\u6613\u4f4d\uff0c\u56e0\u6b64\u5728\u8003\u8651\u4e0b\u4e00\u6b21\u598a\u5a20\u65f6\uff0c\u786e\u8ba4\u7236\u6bcd\u53cc\u65b9\u7684\u67d3\u8272\u4f53\u68c0\u6d4b\u7ed3\u679c\u5c24\u4e3a\u91cd\u8981\u3002<\/strong>\u5e73\u8861\u6613\u4f4d\u662f\u6307\u67d3\u8272\u4f53\u90e8\u5206\u7247\u6bb5\u53d1\u751f\u4ea4\u6362\uff0c\u4f46\u6574\u4f53\u9057\u4f20\u4fe1\u606f\u91cf\u4e0d\u53d8\uff0c\u643a\u5e26\u8005\u672c\u4eba\u4e0d\u4f1a\u8868\u73b0\u51fa\u75c7\u72b6\u7684\u72b6\u6001\u3002\u5f53\u643a\u5e26\u5e73\u8861\u6613\u4f4d\u7684\u7236\u6bcd\u5c06\u9057\u4f20\u4fe1\u606f\u4ee5\u4e0d\u5e73\u8861\u7684\u5f62\u5f0f\u4f20\u7ed9\u5b50\u5973\u65f6\uff0c\u5c31\u53ef\u80fd\u4ee5\u91cd\u590d\u6216\u7f3a\u5931\u7684\u5f62\u5f0f\u8868\u73b0\u51fa\u75c7\u72b6\u3002<\/p>\n\n\n\n<p>\u5b69\u5b50\u88ab\u8bca\u65ad\u4e3a3q26\u5fae\u5c0f\u91cd\u590d\u7efc\u5408\u5f81\u540e\uff0c\u901a\u5e38\u5efa\u8bae\u5148\u5bf9\u7236\u6bcd\u53cc\u65b9\u8fdb\u884c\u67d3\u8272\u4f53\u68c0\u6d4b\uff08\u6838\u578b\u5206\u6790\uff09\uff0c\u786e\u8ba4\u662f\u5426\u5b58\u5728\u5e73\u8861\u6613\u4f4d\u3002\u82e5\u786e\u8ba4\u5b58\u5728\u6613\u4f4d\uff0c\u5c31\u80fd\u8f83\u4e3a\u5177\u4f53\u5730\u8bc4\u4f30\u4e0b\u4e00\u6b21\u598a\u5a20\u7684\u590d\u53d1\u98ce\u9669\uff0c\u4e5f\u66f4\u4fbf\u4e8e\u5546\u8c08\u4ea7\u524d\u8bca\u65ad\u7684\u76f8\u5173\u9009\u62e9\u3002\u82e5\u672a\u53d1\u73b0\u6613\u4f4d\u3001\u5224\u65ad\u4e3a\u65b0\u751f\u7a81\u53d8\uff0c\u5219\u4e0b\u4e00\u6b21\u598a\u5a20\u7684\u590d\u53d1\u98ce\u9669\u88ab\u8ba4\u4e3a\u4e0e\u4e00\u822c\u4eba\u7fa4\u76f8\u5dee\u4e0d\u5927\u3002\u65e0\u8bba\u5c5e\u4e8e\u54ea\u79cd\u60c5\u51b5\uff0c\u901a\u8fc7\u9057\u4f20\u54a8\u8be2\u68b3\u7406\u5bb6\u65cf\u4fe1\u606f\uff0c\u90fd\u6709\u52a9\u4e8e\u5efa\u7acb\u6e05\u6670\u7684\u540e\u7eed\u89c4\u5212\u3002<\/p>\n\n\n\n<p>\u5728\u6211\u63a5\u8bca\u9057\u4f20\u54a8\u8be2\u7684\u8fc7\u7a0b\u4e2d\uff0c\u7ecf\u5e38\u542c\u5230\u4e00\u4e9b\u5bb6\u5ead\u81ea\u8d23\u5730\u95ee\uff1a&#8221;\u8fd9\u6b21\u91cd\u590d\u662f\u4e0d\u662f\u6211\u4eec\u7684\u8d23\u4efb\uff1f&#8221;\u4f46\u8fd9\u5e76\u975e\u7236\u6bcd\u7684\u517b\u80b2\u65b9\u5f0f\u6216\u5b55\u671f\u751f\u6d3b\u65b9\u5f0f\u6240\u81f4\u3002\u8bf7\u628a\u786e\u8ba4\u662f\u5426\u5b58\u5728\u6613\u4f4d\uff0c\u7406\u89e3\u4e3a\u4e0d\u662f\u4e3a\u4e86\u8ffd\u7a76\u8d23\u4efb\uff0c\u800c\u662f\u4e3a\u4e86\u68b3\u7406\u4eca\u540e\u7684\u65b9\u5411\u3001\u5c3d\u65e9\u83b7\u5f97\u6240\u9700\u652f\u6301\u7684\u4e00\u79cd\u4fe1\u606f\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%97%A9%E6%9C%9F%E5%B9%B2%E9%A2%84%E4%B8%8E%E5%A4%9A%E5%AD%A6%E7%A7%91%E5%8C%BB%E7%96%97%E7%AE%A1%E7%90%86\"><\/span>\u65e9\u671f\u5e72\u9884\u4e0e\u591a\u5b66\u79d1\u533b\u7597\u7ba1\u7406<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>3q26\u5fae\u5c0f\u91cd\u590d\u7efc\u5408\u5f81\u76ee\u524d\u6ca1\u6709\u80fd\u591f\u6d88\u9664\u91cd\u590d\u672c\u8eab\u7684\u6cbb\u7597\u65b9\u6cd5\uff0c\u4f46\u901a\u8fc7\u65e9\u671f\u5e72\u9884\u4e0e\u591a\u5b66\u79d1\u533b\u7597\u7ba1\u7406\u76f8\u7ed3\u5408\uff0c\u53ef\u4ee5\u5207\u5b9e\u652f\u6301\u5b69\u5b50\u7684\u53d1\u80b2\u4e0e\u751f\u6d3b\u8d28\u91cf\u3002<\/strong>\u91cd\u8981\u7684\u662f\uff0c\u9488\u5bf9\u6bcf\u4e00\u9879\u75c7\u72b6\u63d0\u4f9b\u76f8\u5e94\u7684\u652f\u6301\uff0c\u5e76\u4ece\u65e9\u671f\u5f00\u59cb\u6301\u7eed\u8fdb\u884c\u3002<\/p>\n\n\n\n<p>\u5728\u53d1\u80b2\u65b9\u9762\uff0c\u953b\u70bc\u8eab\u4f53\u8fd0\u52a8\u80fd\u529b\u7684\u7269\u7406\u6cbb\u7597\u3001\u8bad\u7ec3\u624b\u90e8\u52a8\u4f5c\u53ca\u751f\u6d3b\u81ea\u7406\u80fd\u529b\u7684\u4f5c\u4e1a\u6cbb\u7597\u3001\u4fc3\u8fdb\u8bed\u8a00\u4e0e\u6c9f\u901a\u80fd\u529b\u7684\u8bed\u8a00\u6cbb\u7597\u662f\u652f\u6301\u7684\u6838\u5fc3\u3002\u82e5\u51fa\u73b0\u5b64\u72ec\u75c7\u8c31\u7cfb\u969c\u788d\u7684\u7279\u5f81\uff0c\u6709\u65f6\u4e5f\u4f1a\u7ed3\u5408\u884c\u4e3a\u652f\u6301\u548c\u65e9\u671f\u5e72\u9884\u9879\u76ee\u3002<\/p>\n\n\n\n<p>\u5982\u5b58\u5728\u5fc3\u810f\u5f02\u5e38\uff0c\u9700\u513f\u7ae5\u5fc3\u8840\u7ba1\u79d1\u968f\u8bbf\uff1b\u542c\u529b\u95ee\u9898\u9700\u8033\u9f3b\u5589\u79d1\u6216\u542c\u529b\u4e13\u4e1a\u4eba\u5458\u53c2\u4e0e\uff1b\u6ccc\u5c3f\u751f\u6b96\u7cfb\u7edf\u6216\u9ab6\u9aa8\u30fb\u809b\u95e8\u76f4\u80a0\u5f02\u5e38\u9700\u513f\u7ae5\u5916\u79d1\u6216\u6ccc\u5c3f\u5916\u79d1\u5904\u7406\uff1b\u9752\u6625\u671f\u53d1\u80b2\u5ef6\u8fdf\u5219\u9700\u513f\u7ae5\u5185\u5206\u6ccc\u79d1\u4ecb\u5165\uff0c\u7531\u591a\u4e2a\u4e13\u79d1\u5171\u540c\u5b9a\u671f\u786e\u8ba4\u5b69\u5b50\u7684\u72b6\u6001\u3002\u5fc3\u810f\u3001\u542c\u529b\u3001\u5185\u5206\u6ccc\u65b9\u9762\u7684\u95ee\u9898\u5f80\u5f80\u4e0d\u6613\u4ece\u5916\u89c2\u5bdf\u89c9\uff0c\u6b63\u56e0\u5982\u6b64\uff0c\u575a\u6301\u8fdb\u884c\u65e2\u5b9a\u7684\u68c0\u67e5\u3001\u5c06\u5176&#8221;\u53ef\u89c6\u5316&#8221;\uff0c\u624d\u662f\u5b88\u62a4\u5b69\u5b50\u8eab\u4f53\u5065\u5eb7\u7684\u6839\u57fa\u3002<\/p>\n\n\n\n<p>\u65e9\u671f\u5e72\u9884\u5e76\u4e0d\u90fd\u662f&#8221;\u7279\u522b\u7684\u4e8b\u60c5&#8221;\u3002\u5728\u996e\u98df\u3001\u66f4\u8863\u3001\u73a9\u800d\u7b49\u65e5\u5e38\u751f\u6d3b\u7684\u70b9\u6ef4\u4e2d\uff0c\u8574\u85cf\u7740\u8bb8\u591a\u80fd\u63a8\u52a8\u53d1\u80b2\u7684\u4e92\u52a8\u65b9\u5f0f\u3002\u4e0e\u4e13\u4e1a\u4eba\u5458\u4e00\u8d77\uff0c\u4e3a\u5b69\u5b50\u91cf\u8eab\u5b9a\u5236\u4e00\u4e2a\u4e2a\u5c0f\u5c0f\u7684\u8c03\u6574\uff0c\u5e76\u6301\u7eed\u79ef\u7d2f\u4e0b\u53bb\u3002\u8e0f\u5b9e\u7684\u65e5\u79ef\u6708\u7d2f\uff0c\u624d\u662f\u6700\u53ef\u9760\u7684\u652f\u6301\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%92%A8%E8%AF%A2%E7%AA%97%E5%8F%A3\"><\/span>\u5bb6\u5ead\u652f\u6301\u4e0e\u54a8\u8be2\u7a97\u53e3<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u957f\u671f\u7684\u65e9\u671f\u5e72\u9884\u4e0e\u533b\u7597\u7ba1\u7406\u4f1a\u7ed9\u5bb6\u5ead\u5e26\u6765\u5fc3\u7406\u4e0e\u7ecf\u6d4e\u65b9\u9762\u7684\u8d1f\u62c5\uff0c\u56e0\u6b64\u63d0\u524d\u4e86\u89e3\u53ef\u5229\u7528\u7684\u516c\u5171\u652f\u6301\u4e0e\u54a8\u8be2\u7a97\u53e3\uff0c\u4f1a\u6210\u4e3a\u4e00\u79cd\u6709\u529b\u7684\u652f\u6491\u3002<\/strong>\u4e0d\u8981\u72ec\u81ea\u627f\u53d7\uff0c\u5584\u7528\u53ef\u5229\u7528\u7684\u5236\u5ea6\u5e76\u4e0e\u5176\u4ed6\u5bb6\u5ead\u5efa\u7acb\u8054\u7cfb\uff0c\u5c06\u6210\u4e3a\u575a\u6301\u4e0b\u53bb\u7684\u529b\u91cf\u3002<\/p>\n\n\n\n<p>\u7f55\u89c1\u75be\u75c5\u5f80\u5f80\u4fe1\u606f\u6709\u9650\uff0c\u5bb9\u6613\u8ba9\u4eba\u611f\u5230\u5b64\u7acb\u65e0\u63f4\u3002\u65e5\u672c\u7684<a href=\"https:\/\/www.nanbyou.or.jp\/\" target=\"_blank\" rel=\"noopener\">\u96be\u75c5\u4fe1\u606f\u4e2d\u5fc3<\/a>\u662f\u4e86\u89e3\u7f55\u89c1\u75c5\u4fe1\u606f\u7684\u91cd\u8981\u5165\u53e3\uff0c\u4e0e\u53d1\u80b2\u76f8\u5173\u7684\u4fe1\u606f\u5219\u53ef\u53c2\u8003<a href=\"https:\/\/www.rehab.go.jp\/ddis\/\" target=\"_blank\" rel=\"noopener\">\u56fd\u7acb\u6b8b\u75be\u4eba\u5eb7\u590d\u4e2d\u5fc3 \u53d1\u80b2\u969c\u788d\u4fe1\u606f\u30fb\u652f\u63f4\u4e2d\u5fc3<\/a>\u3002\u50cf3q26\u5fae\u5c0f\u91cd\u590d\u7efc\u5408\u5f81\u8fd9\u6837\u56fd\u5185\u60a3\u8005\u4eba\u6570\u6781\u5c11\u7684\u75be\u75c5\uff0c\u6d77\u5916\u7814\u7a76\u673a\u6784\u6574\u7406\u7684\u8d44\u6599\u4e5f\u6709\u52a9\u4e8e\u4e86\u89e3\u75c7\u72b6\u4e0e\u7814\u7a76\u7684\u6574\u4f53\u60c5\u51b5\uff0c\u4f8b\u5982\u7f8e\u56fd\u56fd\u7acb\u536b\u751f\u7814\u7a76\u9662\uff08NIH\uff09\u7684<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/19311\/3q26-microduplication-syndrome\" target=\"_blank\" rel=\"noopener\">\u7f55\u89c1\u75c5\u4fe1\u606f\u6570\u636e\u5e93\uff08GARD\uff09<\/a>\uff0c\u4ee5\u53ca\u6b27\u6d32\u7684\u7f55\u89c1\u75c5\u95e8\u6237\u7f51\u7ad9<a href=\"https:\/\/www.orpha.net\/en\/disease\/detail\/96095\" target=\"_blank\" rel=\"noopener\">Orphanet<\/a>\u7684\u76f8\u5173\u4ecb\u7ecd\u3002\u4ece\u53ef\u4fe1\u8d56\u7684\u4fe1\u606f\u5165\u624b\uff0c\u5f80\u5f80\u662f\u8fc8\u51fa\u51b7\u9759\u4e00\u6b65\u7684\u5173\u952e\u3002<\/p>\n\n\n\n<p>\u5b55\u671f\u82e5\u5bf9\u8bca\u65ad\u6216\u68c0\u6d4b\u7ed3\u679c\u611f\u5230\u72b9\u8c6b\uff0c\u80fd\u76f4\u63a5\u5411\u4e13\u5bb6\u54a8\u8be2\u7684\u6e20\u9053\u540c\u6837\u4ee4\u4eba\u5b89\u5fc3\u3002\u5173\u4e8e\u4ea7\u524d\u68c0\u6d4b\u7684\u4fe1\u606f\uff0c\u53ef\u53c2\u8003\u65e5\u672c<a href=\"https:\/\/jams-prenatal.jp\/\" target=\"_blank\" rel=\"noopener\">\u4ea7\u524d\u68c0\u6d4b\u8ba4\u8bc1\u5236\u5ea6\u7b49\u8fd0\u8425\u59d4\u5458\u4f1a<\/a>\u7f51\u7ad9\uff08\u65e5\u6587\uff09\u3002\u5f53\u5730\u7684\u4fdd\u5065\u4e2d\u5fc3\u548c\u65e9\u671f\u5e72\u9884\u4e2d\u5fc3\uff0c\u4e5f\u662f\u8eab\u8fb9\u53ef\u4ee5\u54a8\u8be2\u7684\u7a97\u53e3\u3002<\/p>\n\n\n\n<p>\u4e0e\u5904\u5883\u76f8\u4f3c\u7684\u5bb6\u5ead\u5efa\u7acb\u8054\u7cfb\u540c\u6837\u662f\u4e00\u79cd\u652f\u6301\u3002\u5bb6\u5c5e\u4f1a\u3001\u60a3\u8005\u4f1a\u4e2d\uff0c\u53ef\u4ee5\u83b7\u5f97\u6765\u81ea\u5b9e\u9645\u7ecf\u9a8c\u7684\u667a\u6167\uff0c\u4f8b\u5982\u65e5\u5e38\u751f\u6d3b\u7684\u5c0f\u7a8d\u95e8\u4ee5\u53ca\u5404\u9879\u5236\u5ea6\u7684\u4f7f\u7528\u65b9\u6cd5\u3002\u5c06\u5236\u5ea6\u3001\u533b\u7597\u4e0e\u540c\u4f34\u8fd9\u4e09\u65b9\u9762\u7684\u652f\u6301\u7ed3\u5408\u8d77\u6765\uff0c\u4ee5\u4e0d\u52c9\u5f3a\u7684\u8282\u594f\u8d70\u4e0b\u53bb\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%A6%82%E4%BD%95%E7%9C%8B%E5%BE%85%E5%AD%95%E6%9C%9F%E6%A3%80%E6%B5%8B\"><\/span>\u5982\u4f55\u770b\u5f85\u5b55\u671f\u68c0\u6d4b<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u662f\u5426\u63a5\u53d7\u4ea7\u524d\u68c0\u6d4b\u5e76\u6ca1\u6709\u6807\u51c6\u7b54\u6848\uff0c\u63a5\u53d7\u68c0\u6d4b\u4e0e\u4e0d\u63a5\u53d7\u68c0\u6d4b\uff0c\u90fd\u662f\u5bb6\u5ead\u91cd\u8981\u7684\u81ea\u4e3b\u51b3\u5b9a\u3002<\/strong>\u56e0\u7ed3\u679c\u800c\u60c5\u7eea\u8d77\u4f0f\uff0c\u6216\u5728\u6700\u540e\u5173\u5934\u4ecd\u72b9\u8c6b\u4e0d\u51b3\uff0c\u6211\u8ba4\u4e3a\u8fd9\u6b63\u662f\u56e0\u4e3a\u73cd\u89c6\u8179\u4e2d\u5b9d\u5b9d\u800c\u4ea7\u751f\u7684\u81ea\u7136\u60c5\u611f\u3002<\/p>\n\n\n\n<p>\u5728\u54a8\u8be2\u73b0\u573a\uff0c\u6211\u591a\u6b21\u542c\u5230&#8221;\u662f\u5426\u5e94\u8be5\u63a5\u53d7\u68c0\u6d4b&#8221;&#8221;\u63a5\u53d7\u540e\u8be5\u5982\u4f55\u9762\u5bf9\u7ed3\u679c&#8221;\u8fd9\u7c7b\u56f0\u6270\u7684\u58f0\u97f3\u3002\u5728\u68c0\u6d4b\u62a5\u544a\u6216\u8d44\u6599\u4e2d\u770b\u52303q26\u8fd9\u6837\u964c\u751f\u7684\u75c5\u540d\uff0c\u672c\u8eab\u5c31\u5bb9\u6613\u8ba9\u4eba\u4ea7\u751f\u4e0d\u5b89\u3002\u8bf7\u5148\u4ece\u9010\u4e00\u786e\u8ba4\u75c5\u540d\u7684\u542b\u4e49\u5f00\u59cb\uff0c\u7406\u6e05&#8221;\u53ef\u80fd\u6027&#8221;\u4e0e&#8221;\u786e\u8bca&#8221;\u4e4b\u95f4\u7684\u533a\u522b\u3002\u5e76\u4e0d\u9700\u8981\u628a\u6240\u6709\u4e8b\u60c5\u90fd\u60f3\u6e05\u695a\u4e4b\u540e\u624d\u53bb\u63a5\u53d7\u68c0\u6d4b\u3002<\/p>\n\n\n\n<p>\u4e0d\u540c\u68c0\u6d4b\u673a\u6784\u63d0\u4f9b\u7684\u6269\u5c55\u7248NIPT\u8986\u76d6\u8303\u56f4\uff0c\u4ee5\u53ca\u7ed3\u679c\u4e3a\u9633\u6027\u65f6\u7684\u540e\u7eed\u8ddf\u8fdb\u4f53\u5236\u4e5f\u6709\u6240\u4e0d\u540c\uff0c\u8fd9\u4e9b\u4e5f\u662f\u503c\u5f97\u63d0\u524d\u4e86\u89e3\u7684\u4fe1\u606f\u3002\u7ecf\u8fc7\u8ba4\u8bc1\u7684\u673a\u6784\u901a\u5e38\u5728\u68c0\u6d4b\u524d\u540e\u90fd\u80fd\u63d0\u4f9b\u9057\u4f20\u54a8\u8be2\uff0c\u4e00\u65e6\u7ed3\u679c\u4e3a\u9633\u6027\uff0c\u4e5f\u66f4\u5bb9\u6613\u987a\u5229\u8f6c\u4ecb\u81f3\u786e\u8bca\u68c0\u6d4b\u6216\u4e13\u79d1\u533b\u751f\u3002\u5728\u9009\u62e9\u673a\u6784\u611f\u5230\u72b9\u8c6b\u65f6\uff0c\u901a\u8fc7\u9057\u4f20\u54a8\u8be2\u9010\u4e00\u7406\u6e05\u7591\u95ee\u4f1a\u5f88\u6709\u5e2e\u52a9\u3002<\/p>\n\n\n\n<p>\u5982\u679c\u611f\u5230\u72b9\u8c6b\uff0c\u8bf7\u5c1d\u8bd5\u5728\u9057\u4f20\u54a8\u8be2\u4e2d\u4e0e\u4e13\u5bb6\u4e00\u8d77\u68b3\u7406\u601d\u8def\u3002\u68c0\u6d4b\u80fd\u544a\u8bc9\u6211\u4eec\u4ec0\u4e48\uff0c\u4e0d\u80fd\u544a\u8bc9\u6211\u4eec\u4ec0\u4e48\u3002\u81ea\u5df1\u5e0c\u671b\u4ee5\u600e\u6837\u7684\u65b9\u5f0f\u63a5\u53d7\u7ed3\u679c\u3002\u901a\u8fc7\u5bf9\u8bdd\uff0c\u81ea\u5df1\u5185\u5fc3\u7684\u60f3\u6cd5\u4f1a\u9010\u6e10\u6e05\u6670\u8d77\u6765\u3002\u9762\u5bf9\u7ec8\u6b62\u598a\u5a20\u6216\u6d41\u4ea7\u8fd9\u7c7b\u6c89\u91cd\u7684\u8bdd\u9898\u65f6\uff0c\u8bf7\u4e0d\u8981\u72ec\u81ea\u627f\u53d7\uff0c\u501f\u52a9\u4e13\u5bb6\u7684\u652f\u6301\u6765\u9762\u5bf9\u3002<\/p>\n\n\n\n<div style=\"text-align:center;margin:2em 0;\"><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/line-registration\/?lang=zh-hans\" target=\"_blank\" rel=\"noopener\" style=\"display:inline-block;padding:0.8em 2em;background:#e8608a;color:#fff;border-radius:30px;text-decoration:none;font-weight:bold;\">\u901a\u8fc7LINE\u514d\u8d39\u54a8\u8be2\u5b55\u671f\u56f0\u60d1<\/a><\/div>\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_3q26%E5%BE%AE%E5%B0%8F%E9%87%8D%E5%A4%8D%E7%BB%BC%E5%90%88%E5%BE%81%E4%BC%9A%E9%81%97%E4%BC%A0%E8%87%AA%E7%88%B6%E6%AF%8D%E5%90%97%EF%BC%9F\"><\/span><strong>Q. 3q26\u5fae\u5c0f\u91cd\u590d\u7efc\u5408\u5f81\u4f1a\u9057\u4f20\u81ea\u7236\u6bcd\u5417\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5305\u542b3q26\u5728\u5185\u76843q\u91cd\u590d\u7efc\u5408\u5f81\u76f8\u5173\u6587\u732e\u7efc\u8ff0\u663e\u793a\uff0c\u7ea6\u4e03\u6210\u62a5\u544a\u75c5\u4f8b\u6e90\u4e8e\u7236\u6bcd\u4e00\u65b9\u643a\u5e26\u7684\u5e73\u8861\u6613\u4f4d\uff0c\u5176\u4f59\u7ea6\u4e09\u6210\u4e3a\u65b0\u53d1\u53d8\u5316\uff08\u65b0\u751f\u7a81\u53d8\uff09\u3002\u901a\u8fc7\u786e\u8ba4\u7236\u6bcd\u54ea\u4e00\u65b9\u643a\u5e26\u6613\u4f4d\uff0c\u53ef\u4ee5\u8f83\u4e3a\u5177\u4f53\u5730\u8bc4\u4f30\u4e0b\u4e00\u6b21\u598a\u5a20\u7684\u590d\u53d1\u98ce\u9669\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_%E4%B8%8E3q29%E5%BE%AE%E5%B0%8F%E9%87%8D%E5%A4%8D%E7%BB%BC%E5%90%88%E5%BE%81%E6%98%AF%E5%90%8C%E4%B8%80%E7%A7%8D%E7%96%BE%E7%97%85%E5%90%97%EF%BC%9F\"><\/span><strong>Q. \u4e0e3q29\u5fae\u5c0f\u91cd\u590d\u7efc\u5408\u5f81\u662f\u540c\u4e00\u79cd\u75be\u75c5\u5417\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u4e0d\u662f\uff0c\u662f\u4e24\u79cd\u4e0d\u540c\u7684\u75be\u75c5\u30023q26\u4e0e3q29\u867d\u540c\u4f4d\u4e8e3\u53f7\u67d3\u8272\u4f53\u957f\u81c2\uff0c\u4f46\u4f4d\u7f6e\u548c\u6240\u6d89\u57fa\u56e0\u5747\u4e0d\u76f8\u540c\u3002\u7531\u4e8e\u540d\u79f0\u76f8\u8fd1\u5bb9\u6613\u6df7\u6dc6\uff0c\u8bf7\u52a1\u5fc5\u786e\u8ba4\u68c0\u6d4b\u62a5\u544a\u4e0a\u8bb0\u8f7d\u7684\u533a\u57df\u7f16\u53f7\uff08q26\u8fd8\u662fq29\uff09\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_%E4%BC%9A%E5%87%BA%E7%8E%B0%E5%93%AA%E4%BA%9B%E7%97%87%E7%8A%B6%EF%BC%9F\"><\/span><strong>Q. \u4f1a\u51fa\u73b0\u54ea\u4e9b\u75c7\u72b6\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u53ef\u80fd\u51fa\u73b0\u51fa\u751f\u524d\u540e\u751f\u957f\u53d1\u80b2\u8fdf\u7f13\u3001\u53d1\u80b2\u8fdf\u7f13\u6216\u667a\u529b\u969c\u788d\u3001\u7279\u5f81\u6027\u9762\u5bb9\u3001\u5fc3\u810f\u5f02\u5e38\u3001\u6ccc\u5c3f\u751f\u6b96\u7cfb\u7edf\u6216\u9aa8\u9abc\u5f02\u5e38\u3001\u9ab6\u9aa8\u30fb\u809b\u95e8\u76f4\u80a0\u5468\u56f4\u7578\u5f62\u7b49\u8868\u73b0\u3002\u4f46\u91cd\u590d\u533a\u57df\u8303\u56f4\u53ca\u6240\u6d89\u57fa\u56e0\u4e0d\u540c\uff0c\u6bcf\u4e2a\u5b69\u5b50\u7684\u8868\u73b0\u4e5f\u5404\u4e0d\u76f8\u540c\uff0c\u5e76\u975e\u6240\u6709\u75c7\u72b6\u90fd\u4f1a\u540c\u65f6\u51fa\u73b0\u3002\u5982\u6709\u62c5\u5fc3\u7684\u60c5\u51b5\uff0c\u8bf7\u4e0e\u4e3b\u6cbb\u533b\u751f\u6c9f\u901a\u786e\u8ba4\u3002<\/p>\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%BA%E8%BF%99%E7%A7%8D%E9%87%8D%E5%A4%8D%E5%90%97%EF%BC%9F\"><\/span><strong>Q. NIPT\u80fd\u67e5\u51fa\u8fd9\u79cd\u91cd\u590d\u5417\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u50cf3q26\u8fd9\u6837\u7684\u5fae\u5c0f\u91cd\u590d\uff0c\u57fa\u7840\u7248NIPT\u5e76\u4e0d\u5728\u7b5b\u67e5\u8303\u56f4\u5185\u3002\u5373\u4fbf\u662f\u8986\u76d6\u5168\u90e8\u67d3\u8272\u4f53\u7684\u6269\u5c55\u7248NIPT\uff0c\u5176\u53ef\u8986\u76d6\u7684\u91cd\u590d\u30fb\u7f3a\u5931\u533a\u57df\u4e5f\u6709\u9650\uff0c\u5e76\u4e0d\u4e00\u5b9a\u80fd\u5355\u72ec\u8986\u76d6\u5230\u6781\u4e3a\u7f55\u89c1\u7684\u533a\u57df\u3002\u7531\u4e8eNIPT\u5c5e\u4e8e\u975e\u786e\u5b9a\u6027\u68c0\u6d4b\uff0c\u7ed3\u679c\u4ec5\u4ee3\u8868\u4e00\u79cd\u53ef\u80fd\u6027\u3002\u786e\u8bca\u9700\u8981\u901a\u8fc7\u7f8a\u6c34\u68c0\u67e5\u6216\u7ed2\u6bdb\u53d6\u6837\u68c0\u67e5\u914d\u5408\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_%E5%A6%82%E4%BD%95%E8%BF%9B%E8%A1%8C%E7%A1%AE%E8%AF%8A%EF%BC%9F\"><\/span><strong>Q. \u5982\u4f55\u8fdb\u884c\u786e\u8bca\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\uff0c\u8be6\u7ec6\u786e\u8ba4\u91cd\u590d\u533a\u57df\u540e\u4e88\u4ee5\u8bca\u65ad\u3002\u4ea7\u524d\u7684\u60c5\u51b5\u4e0b\uff0c\u4f1a\u4f7f\u7528\u7f8a\u6c34\u68c0\u67e5\u6216\u7ed2\u6bdb\u53d6\u6837\u68c0\u67e5\u91c7\u96c6\u7684\u7ec6\u80de\u8fdb\u884c\u5206\u6790\u3002\u7531\u4e8e\u786e\u8bca\u68c0\u6d4b\u4f34\u968f\u6781\u5c0f\u7684\u6d41\u4ea7\u98ce\u9669\uff0c\u662f\u5426\u63a5\u53d7\u68c0\u6d4b\u8bf7\u5728\u9057\u4f20\u54a8\u8be2\u4e2d\u5145\u5206\u5546\u8c08\u540e\uff0c\u81ea\u4e3b\u51b3\u5b9a\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_%E6%9C%89%E6%B2%BB%E7%96%97%E6%96%B9%E6%B3%95%E5%90%97%EF%BC%9F%E5%AE%B6%E5%BA%AD%E5%8F%AF%E4%BB%A5%E5%90%91%E5%93%AA%E9%87%8C%E5%92%A8%E8%AF%A2%EF%BC%9F\"><\/span><strong>Q. \u6709\u6cbb\u7597\u65b9\u6cd5\u5417\uff1f\u5bb6\u5ead\u53ef\u4ee5\u5411\u54ea\u91cc\u54a8\u8be2\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u76ee\u524d\u6ca1\u6709\u80fd\u6d88\u9664\u91cd\u590d\u672c\u8eab\u7684\u6cbb\u7597\u65b9\u6cd5\uff0c\u4f46\u901a\u8fc7\u7269\u7406\u6cbb\u7597\u30fb\u4f5c\u4e1a\u6cbb\u7597\u30fb\u8bed\u8a00\u6cbb\u7597\u7b49\u65e9\u671f\u5e72\u9884\uff0c\u7ed3\u5408\u6db5\u76d6\u5fc3\u810f\u30fb\u542c\u529b\u30fb\u6ccc\u5c3f\u751f\u6b96\u7cfb\u7edf\u30fb\u9ab6\u9aa8\u809b\u95e8\u76f4\u80a0\u7684\u591a\u5b66\u79d1\u533b\u7597\u7ba1\u7406\uff0c\u53ef\u4ee5\u652f\u6301\u5b69\u5b50\u7684\u53d1\u80b2\u4e0e\u751f\u6d3b\u8d28\u91cf\u3002\u54a8\u8be2\u6e20\u9053\u65b9\u9762\uff0c\u96be\u75c5\u4fe1\u606f\u4e2d\u5fc3\u3001\u53d1\u80b2\u969c\u788d\u4fe1\u606f\u30fb\u652f\u63f4\u4e2d\u5fc3\u7b49\u516c\u5171\u7a97\u53e3\uff0c\u4ee5\u53ca\u5f53\u5730\u7684\u4fdd\u5065\u4e2d\u5fc3\u3001\u65e9\u671f\u5e72\u9884\u4e2d\u5fc3\u3001\u5904\u5883\u76f8\u4f3c\u7684\u5bb6\u5c5e\u4f1a\u30fb\u60a3\u8005\u4f1a\u90fd\u80fd\u63d0\u4f9b\u5e2e\u52a9\u3002\u4e0d\u8981\u72ec\u81ea\u627f\u53d7\uff0c\u8bf7\u7efc\u5408\u5229\u7528\u5236\u5ea6\u3001\u533b\u7597\u4e0e\u540c\u4f34\u8fd9\u4e09\u65b9\u9762\u7684\u652f\u6301\u3002<\/p>\n\n\n\n\n\n\n<div 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