{"id":116675,"date":"2025-09-26T10:29:18","date_gmt":"2025-09-26T01:29:18","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-microdeletion-intellectual-disability\/"},"modified":"2025-09-26T10:34:23","modified_gmt":"2025-09-26T01:34:23","slug":"chromosome-microdeletion-intellectual-disability","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-microdeletion-intellectual-disability\/?lang=zh-hans","title":{"rendered":"\u60a8\u77e5\u9053\u67d3\u8272\u4f53\u4e0a\u5f88\u5c0f\u7684\u5f02\u5e38\u4e5f\u53ef\u80fd\u5f15\u53d1\u667a\u529b\u969c\u788d\u5417\uff1f"},"content":{"rendered":"\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_84 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">\u76ee\u6b21<\/p>\n<span 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 Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" height=\"10px\" viewBox=\"0 0 24 24\" version=\"1.2\" baseProfile=\"tiny\"><path d=\"M18.2 9.3l-6.2-6.3-6.2 6.3c-.2.2-.3.4-.3.7s.1.5.3.7c.2.2.4.3.7.3h11c.3 0 .5-.1.7-.3.2-.2.3-.5.3-.7s-.1-.5-.3-.7zM5.8 14.7l6.2 6.3 6.2-6.3c.2-.2.3-.5.3-.7s-.1-.5-.3-.7c-.2-.2-.4-.3-.7-.3h-11c-.3 0-.5.1-.7.3-.2.2-.3.5-.3.7s.1.5.3.7z\"\/><\/svg><\/span><\/span><\/span><\/a><\/span><\/div>\n<nav><ul class='ez-toc-list ez-toc-list-level-1 ' ><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-1\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-microdeletion-intellectual-disability\/?lang=zh-hans\/#1_%E5%89%8D%E8%A8%80%EF%BC%9A%E6%99%BA%E5%8A%9B%E9%9A%9C%E7%A2%8D%E4%B8%8E%E6%9F%93%E8%89%B2%E4%BD%93%E5%BC%82%E5%B8%B8%E7%9A%84%E5%85%B3%E8%81%94\" >1. \u524d\u8a00\uff1a\u667a\u529b\u969c\u788d\u4e0e\u67d3\u8272\u4f53\u5f02\u5e38\u7684\u5173\u8054<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-microdeletion-intellectual-disability\/?lang=zh-hans\/#2_%E4%BB%80%E4%B9%88%E6%98%AF%E6%9F%93%E8%89%B2%E4%BD%93%E5%BC%82%E5%B8%B8%EF%BC%9F\" >2. \u4ec0\u4e48\u662f\u67d3\u8272\u4f53\u5f02\u5e38\uff1f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-microdeletion-intellectual-disability\/?lang=zh-hans\/#3_%E5%BE%AE%E5%B0%8F%E7%BC%BA%E5%A4%B1_%E9%87%8D%E5%A4%8D%E4%B8%8E%E6%99%BA%E5%8A%9B%E9%9A%9C%E7%A2%8D%E7%9A%84%E5%85%B3%E7%B3%BB\" >3. \u5fae\u5c0f\u7f3a\u5931 \/ \u91cd\u590d\u4e0e\u667a\u529b\u969c\u788d\u7684\u5173\u7cfb<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-microdeletion-intellectual-disability\/?lang=zh-hans\/#4_NIPT_%E5%8F%AF%E6%8E%A2%E6%B5%8B%E7%9A%84%E6%9F%93%E8%89%B2%E4%BD%93%E5%BC%82%E5%B8%B8%E5%8F%AF%E8%83%BD%E6%80%A7\" >4. NIPT \u53ef\u63a2\u6d4b\u7684\u67d3\u8272\u4f53\u5f02\u5e38\u53ef\u80fd\u6027<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-microdeletion-intellectual-disability\/?lang=zh-hans\/#5_%E4%B8%BA%E4%BB%80%E4%B9%88%E2%80%9C%E5%BE%88%E5%B0%8F%E7%9A%84%E5%BC%82%E5%B8%B8%E2%80%9D%E4%B9%9F%E8%83%BD%E9%80%A0%E6%88%90%E9%87%8D%E5%A4%A7%E5%BD%B1%E5%93%8D\" >5. \u4e3a\u4ec0\u4e48\u201c\u5f88\u5c0f\u7684\u5f02\u5e38\u201d\u4e5f\u80fd\u9020\u6210\u91cd\u5927\u5f71\u54cd<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-microdeletion-intellectual-disability\/?lang=zh-hans\/#6_%E5%9C%A8%E5%87%BA%E7%94%9F%E5%89%8D%E8%8E%B7%E7%9F%A5%E7%9A%84%E4%BC%98%E5%8A%BF\" >6. \u5728\u51fa\u751f\u524d\u83b7\u77e5\u7684\u4f18\u52bf<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-microdeletion-intellectual-disability\/?lang=zh-hans\/#7_NIPT_%E7%9A%84%E5%B1%80%E9%99%90%E4%B8%8E%E6%B3%A8%E6%84%8F%E4%BA%8B%E9%A1%B9\" >7. NIPT \u7684\u5c40\u9650\u4e0e\u6ce8\u610f\u4e8b\u9879<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-microdeletion-intellectual-disability\/?lang=zh-hans\/#8_%E5%AE%B6%E5%BA%AD%E4%B8%8E%E5%8C%BB%E7%96%97%E8%80%85%E7%9A%84%E5%86%B3%E7%AD%96%E8%BF%87%E7%A8%8B\" >8. \u5bb6\u5ead\u4e0e\u533b\u7597\u8005\u7684\u51b3\u7b56\u8fc7\u7a0b<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-microdeletion-intellectual-disability\/?lang=zh-hans\/#9_%E7%A4%BE%E4%BC%9A%E4%B8%8E%E4%BC%A6%E7%90%86%E8%AE%AE%E9%A2%98\" >9. \u793e\u4f1a\u4e0e\u4f26\u7406\u8bae\u9898<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-microdeletion-intellectual-disability\/?lang=zh-hans\/#10_%E5%87%BA%E7%94%9F%E5%90%8E%E5%8F%AF%E5%88%A9%E7%94%A8%E7%9A%84%E6%94%AF%E6%8F%B4\" >10. \u51fa\u751f\u540e\u53ef\u5229\u7528\u7684\u652f\u63f4<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-microdeletion-intellectual-disability\/?lang=zh-hans\/#11_%E6%9C%AA%E6%9D%A5%E5%B1%95%E6%9C%9B\" >11. \u672a\u6765\u5c55\u671b<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-12\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-microdeletion-intellectual-disability\/?lang=zh-hans\/#12_%E6%9F%93%E8%89%B2%E4%BD%93%E5%BC%82%E5%B8%B8%E6%97%A9%E6%9C%9F%E5%8F%91%E7%8E%B0%E5%AF%B9%E5%AE%B6%E5%BA%AD%E7%9A%84%E5%BD%B1%E5%93%8D\" >12. \u67d3\u8272\u4f53\u5f02\u5e38\u65e9\u671f\u53d1\u73b0\u5bf9\u5bb6\u5ead\u7684\u5f71\u54cd<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-13\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-microdeletion-intellectual-disability\/?lang=zh-hans\/#13_%E9%81%97%E4%BC%A0%E5%92%A8%E8%AF%A2%E7%9A%84%E8%A7%92%E8%89%B2\" >13. \u9057\u4f20\u54a8\u8be2\u7684\u89d2\u8272<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-microdeletion-intellectual-disability\/?lang=zh-hans\/#14_%E7%A4%BE%E4%BC%9A%E4%B8%8E%E4%BC%A6%E7%90%86%E7%9A%84%E5%85%B3%E6%80%80\" >14. \u793e\u4f1a\u4e0e\u4f26\u7406\u7684\u5173\u6000<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-15\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-microdeletion-intellectual-disability\/?lang=zh-hans\/#15_%E5%87%BA%E7%94%9F%E5%90%8E%E5%8C%BB%E7%96%97%E4%B8%8E%E5%BA%B7%E5%A4%8D%E7%9A%84%E5%85%B7%E4%BD%93%E5%AE%9E%E4%BE%8B\" >15. \u51fa\u751f\u540e\u533b\u7597\u4e0e\u5eb7\u590d\u7684\u5177\u4f53\u5b9e\u4f8b<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-microdeletion-intellectual-disability\/?lang=zh-hans\/#16_%E6%9C%80%E6%96%B0%E7%A0%94%E7%A9%B6%E5%8A%A8%E5%90%91\" >16. \u6700\u65b0\u7814\u7a76\u52a8\u5411<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-microdeletion-intellectual-disability\/?lang=zh-hans\/#17_%E5%AE%B6%E5%BA%AD%E5%BA%94%E4%BA%8B%E5%85%88%E6%B3%A8%E6%84%8F%E7%9A%84%E4%BA%8B%E9%A1%B9\" >17. \u5bb6\u5ead\u5e94\u4e8b\u5148\u6ce8\u610f\u7684\u4e8b\u9879<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-18\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-microdeletion-intellectual-disability\/?lang=zh-hans\/#%E6%80%BB%E7%BB%93%EF%BC%9A%E7%90%86%E8%A7%A3%E6%9F%93%E8%89%B2%E4%BD%93%E5%B0%8F%E5%BC%82%E5%B8%B8%EF%BC%8C%E5%BC%80%E5%90%AF%E4%B8%8D%E5%90%8C%E7%9A%84%E6%9C%AA%E6%9D%A5\" >\u603b\u7ed3\uff1a\u7406\u89e3\u67d3\u8272\u4f53\u5c0f\u5f02\u5e38\uff0c\u5f00\u542f\u4e0d\u540c\u7684\u672a\u6765<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-19\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-microdeletion-intellectual-disability\/?lang=zh-hans\/#%E5%8F%82%E8%80%83%E6%96%87%E7%8C%AE%EF%BC%88%E8%AF%81%E6%8D%AE%EF%BC%89\" >\u53c2\u8003\u6587\u732e\uff08\u8bc1\u636e\uff09<\/a><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E5%89%8D%E8%A8%80%EF%BC%9A%E6%99%BA%E5%8A%9B%E9%9A%9C%E7%A2%8D%E4%B8%8E%E6%9F%93%E8%89%B2%E4%BD%93%E5%BC%82%E5%B8%B8%E7%9A%84%E5%85%B3%E8%81%94\"><\/span>1. \u524d\u8a00\uff1a\u667a\u529b\u969c\u788d\u4e0e\u67d3\u8272\u4f53\u5f02\u5e38\u7684\u5173\u8054<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u667a\u529b\u969c\u788d\u6307\u7684\u662f\u667a\u5546\uff08IQ\uff09\u4f4e\u4e8e 70\uff0c\u4e14\u5728\u65e5\u5e38\u751f\u6d3b\u4e2d\u9700\u8981\u652f\u63f4\u7684\u72b6\u6001\u3002<br>\u5176\u6210\u56e0\u591a\u6837\uff0c\u4f46\u5148\u5929\u6027\u7684\u67d3\u8272\u4f53\u5f02\u5e38\u5728\u5176\u4e2d\u5360\u6709\u91cd\u8981\u6bd4\u91cd\u3002<br>\u7279\u522b\u662f\u8fd1\u5e74\u6765\uff0c\u201c\u67d3\u8272\u4f53\u4e0a\u7684\u5fae\u5c0f\u7f3a\u5931\uff0f\u91cd\u590d\u201d\uff08microdeletion \/ microduplication\uff09\u88ab\u53d1\u73b0\u662f\u53ef\u80fd\u5f15\u8d77\u4ece\u8f7b\u5ea6\u5230\u91cd\u5ea6\u667a\u529b\u969c\u788d\u6216\u53d1\u80b2\u969c\u788d\u7684\u91cd\u8981\u56e0\u7d20\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E4%BB%80%E4%B9%88%E6%98%AF%E6%9F%93%E8%89%B2%E4%BD%93%E5%BC%82%E5%B8%B8%EF%BC%9F\"><\/span>2. \u4ec0\u4e48\u662f\u67d3\u8272\u4f53\u5f02\u5e38\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u67d3\u8272\u4f53\u5f02\u5e38\u662f\u6307\u67d3\u8272\u4f53\u7684\u6570\u91cf\u6216\u7ed3\u6784\u53d1\u751f\u5f02\u5e38\u7684\u72b6\u6001\uff0c\u4e3b\u8981\u53ef\u5206\u4e3a\u4ee5\u4e0b\u51e0\u7c7b\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6570\u76ee\u5f02\u5e38<\/strong>\uff1a\u67d3\u8272\u4f53\u6570\u91cf\u5f02\u5e38\uff08\u5982\uff1a\u5510\u6c0f\u7efc\u5408\u75c7\u4e3a 21 \u53f7\u4e09\u4f53\uff09<\/li>\n\n\n\n<li><strong>\u7ed3\u6784\u5f02\u5e38<\/strong>\uff1a\u67d3\u8272\u4f53\u7684\u4e00\u90e8\u5206\u7f3a\u5931\u3001\u91cd\u590d\u3001\u5012\u4f4d\u6216\u6613\u4f4d\u7b49\u6539\u53d8<\/li>\n<\/ul>\n\n\n\n<p>\u5728\u7ed3\u6784\u5f02\u5e38\u4e2d\uff0c\u90a3\u4e9b\u6781\u5c0f\u3001\u7528\u8089\u773c\u96be\u4ee5\u5bdf\u89c9\u7684\u7f3a\u5931\u6216\u91cd\u590d\u88ab\u79f0\u4e3a <strong>\u5fae\u5c0f\u7f3a\u5931 \/ \u5fae\u5c0f\u91cd\u590d<\/strong>\uff0c\u5728\u4f20\u7edf\u67d3\u8272\u4f53\u68c0\u6d4b\u4e2d\u5f80\u5f80\u96be\u4ee5\u88ab\u53d1\u73b0\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E5%BE%AE%E5%B0%8F%E7%BC%BA%E5%A4%B1_%E9%87%8D%E5%A4%8D%E4%B8%8E%E6%99%BA%E5%8A%9B%E9%9A%9C%E7%A2%8D%E7%9A%84%E5%85%B3%E7%B3%BB\"><\/span>3. \u5fae\u5c0f\u7f3a\u5931 \/ \u91cd\u590d\u4e0e\u667a\u529b\u969c\u788d\u7684\u5173\u7cfb<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u8fd1\u5e74\u6765\u7684\u9057\u4f20\u5b66\u7814\u7a76\u6307\u51fa\uff0c\u4ee5\u4e0b\u5fae\u5c0f\u7f3a\u5931 \/ \u91cd\u590d\u4e0e\u667a\u529b\u969c\u788d\u6709\u8f83\u5f3a\u5173\u8054\u6027\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/1p-36-deletion-syndrome\/\">1p36<\/a> \u7f3a\u5931\u7efc\u5408\u5f81<\/li>\n\n\n\n<li>22q11.2 \u7f3a\u5931\u7efc\u5408\u5f81\uff08DiGeorge \u7efc\u5408\u5f81\uff09<\/li>\n\n\n\n<li>7q11.23 \u7f3a\u5931\u7efc\u5408\u5f81\uff08Williams \u7efc\u5408\u5f81\uff09<\/li>\n\n\n\n<li>15q11\u201113 \u533a\u57df\u7684\u5f02\u5e38\uff08Prader\u2011Willi \u7efc\u5408\u5f81 \/ Angelman \u7efc\u5408\u5f81\uff09<\/li>\n<\/ul>\n\n\n\n<p>\u8fd9\u4e9b\u5f02\u5e38\u53ef\u80fd\u4f34\u968f\u8f7b\u5ea6\u5b66\u4e60\u969c\u788d\u3001\u91cd\u5ea6\u667a\u529b\u969c\u788d\u3001\u53d1\u80b2\u969c\u788d\u6216\u884c\u4e3a\u5f02\u5e38\u7b49\uff0c\u5e76\u4e14\u5df2\u5f00\u59cb\u88ab\u7eb3\u5165\u4ea7\u524d\u8bca\u65ad\u7684\u6f5c\u5728\u76ee\u6807\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_NIPT_%E5%8F%AF%E6%8E%A2%E6%B5%8B%E7%9A%84%E6%9F%93%E8%89%B2%E4%BD%93%E5%BC%82%E5%B8%B8%E5%8F%AF%E8%83%BD%E6%80%A7\"><\/span>4. NIPT \u53ef\u63a2\u6d4b\u7684\u67d3\u8272\u4f53\u5f02\u5e38\u53ef\u80fd\u6027<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u4f20\u7edf\u7684 <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>\uff08\u65e0\u521b\u4ea7\u524d\u68c0\u6d4b\uff09\u4e3b\u8981\u9488\u5bf9 21\u300118\u300113 \u4e09\u4f53\u8fdb\u884c\u7b5b\u67e5\uff0c\u4f46\u8fd1\u5e74\u6765\u4e5f\u6709\u80fd\u529b\u6269\u5c55\u5230\u5168\u67d3\u8272\u4f53\u68c0\u6d4b\u4ee5\u53ca\u5fae\u5c0f\u7f3a\u5931\u7efc\u5408\u5f81\u7684\u7b5b\u67e5\u3002<br>\u901a\u8fc7\u5bf9\u80ce\u513f DNA \u7684\u89e3\u6790\uff0c\u51fa\u751f\u524d\u53ef\u80fd\u83b7\u53d6\u4ee5\u4e0b\u4fe1\u606f\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u4e0e\u5fae\u5c0f\u7f3a\u5931 \/ \u91cd\u590d\u76f8\u5173\u7684\u53d1\u80b2\u98ce\u9669<\/li>\n\n\n\n<li>\u6570\u76ee\u5f02\u5e38\u5bfc\u81f4\u7684\u5148\u5929\u6027\u5f02\u5e38\u98ce\u9669<\/li>\n\n\n\n<li>\u51fa\u751f\u540e\u53ef\u80fd\u9700\u8981\u7684\u533b\u7597 \/ \u65e9\u671f\u5e72\u9884\u652f\u63f4\u9700\u6c42<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"5_%E4%B8%BA%E4%BB%80%E4%B9%88%E2%80%9C%E5%BE%88%E5%B0%8F%E7%9A%84%E5%BC%82%E5%B8%B8%E2%80%9D%E4%B9%9F%E8%83%BD%E9%80%A0%E6%88%90%E9%87%8D%E5%A4%A7%E5%BD%B1%E5%93%8D\"><\/span>5. \u4e3a\u4ec0\u4e48\u201c\u5f88\u5c0f\u7684\u5f02\u5e38\u201d\u4e5f\u80fd\u9020\u6210\u91cd\u5927\u5f71\u54cd<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u5fae\u5c0f\u7f3a\u5931 \/ \u91cd\u590d\u901a\u5e38\u4ec5\u6d89\u53ca\u67d3\u8272\u4f53\u4e0a\u51e0\u767e\u4e07\u78b1\u57fa\u5bf9\uff08Mb\uff09\u7ea7\u522b\u7684\u5f02\u5e38\uff0c\u4f46\u8fd9\u4e9b\u533a\u57df\u5f80\u5f80\u5bcc\u542b\u5bf9\u8111\u53d1\u80b2\u81f3\u5173\u91cd\u8981\u7684\u57fa\u56e0\u3002<br>\u4f8b\u5982\uff0c\u5728 22q11.2 \u7f3a\u5931\u7efc\u5408\u5f81\u4e2d\uff0c\u9664\u4e86\u5fc3\u810f\u7578\u5f62\u3001\u514d\u75ab\u5f02\u5e38\u5916\uff0c\u8fd8\u5df2\u77e5\u53ef\u80fd\u4ea7\u751f\u8f7b\u5ea6\u81f3\u4e2d\u5ea6\u7684\u667a\u529b\u969c\u788d\u53ca\u7cbe\u795e\u75be\u75c5\u98ce\u9669\u3002<br>\u7531\u6b64\u53ef\u89c1\uff0c\u5373\u4f7f\u6781\u5c0f\u7684\u67d3\u8272\u4f53\u5f02\u5e38\u4e5f\u53ef\u5bf9\u795e\u7ecf\u53d1\u80b2\u4ea7\u751f\u91cd\u5927\u5f71\u54cd\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"6_%E5%9C%A8%E5%87%BA%E7%94%9F%E5%89%8D%E8%8E%B7%E7%9F%A5%E7%9A%84%E4%BC%98%E5%8A%BF\"><\/span>6. \u5728\u51fa\u751f\u524d\u83b7\u77e5\u7684\u4f18\u52bf<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u5982\u679c\u80fd\u591f\u5728\u51fa\u751f\u524d\u53d1\u73b0\u8fd9\u4e9b\u5fae\u5c0f\u67d3\u8272\u4f53\u5f02\u5e38\uff0c\u5177\u6709\u4ee5\u4e0b\u76ca\u5904\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u51fa\u751f\u540e\u7acb\u5373\u51c6\u5907\u597d\u533b\u7597\u4f53\u7cfb<\/li>\n\n\n\n<li>\u53ef\u9009\u62e9\u5177\u5907 NICU\uff08\u65b0\u751f\u513f\u91cd\u75c7\u76d1\u62a4\u5ba4\uff09\u7684\u673a\u6784\u8fdb\u884c\u5b89\u5168\u5206\u5a29<\/li>\n\n\n\n<li>\u63d0\u524d\u542f\u52a8\u65e9\u671f\u5e72\u9884\u4e0e\u5eb7\u590d\uff0c\u63d0\u9ad8\u53d1\u80b2\u53ef\u80fd\u6027<\/li>\n\n\n\n<li>\u5bb6\u5ead\u6709\u66f4\u591a\u5fc3\u7406\u51c6\u5907\u65f6\u95f4<\/li>\n\n\n\n<li>\u901a\u8fc7\u638c\u63e1\u4fe1\u606f\uff0c\u53ef\u51cf\u5c11\u51fa\u751f\u540e\u6df7\u4e71\uff0c\u4e3a\u5b69\u5b50\u4e89\u53d6\u6700\u4f73\u8d77\u70b9<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"7_NIPT_%E7%9A%84%E5%B1%80%E9%99%90%E4%B8%8E%E6%B3%A8%E6%84%8F%E4%BA%8B%E9%A1%B9\"><\/span>7. NIPT \u7684\u5c40\u9650\u4e0e\u6ce8\u610f\u4e8b\u9879<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u5c3d\u7ba1 <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> \u662f\u4fbf\u6377\u7684\u68c0\u6d4b\u65b9\u5f0f\uff0c\u4f46\u4ee5\u4e0b\u65b9\u9762\u9700\u8c28\u614e\u8003\u8651\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5b83\u5c5e\u4e8e\u7b5b\u67e5\u68c0\u6d4b\uff0c\u800c\u975e\u786e\u8bca<\/li>\n\n\n\n<li>\u82e5\u7ed3\u679c\u4e3a\u9633\u6027\uff0c\u9700\u8981\u8fdb\u4e00\u6b65\u901a\u8fc7\u7f8a\u6c34\u7a7f\u523a\u6216\u7ed2\u6bdb\u53d6\u6837\u6765\u786e\u8ba4<\/li>\n\n\n\n<li>\u53ef\u80fd\u53d1\u751f\u5047\u9633\u6027\u3001\u5047\u9634\u6027\u60c5\u51b5<\/li>\n\n\n\n<li>\u7ed3\u679c\u7684\u5fc3\u7406\u63a5\u53d7\u5ea6\u56e0\u4eba\u800c\u5f02\uff0c\u53ef\u80fd\u9700\u8981\u5fc3\u7406\u652f\u6301<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"8_%E5%AE%B6%E5%BA%AD%E4%B8%8E%E5%8C%BB%E7%96%97%E8%80%85%E7%9A%84%E5%86%B3%E7%AD%96%E8%BF%87%E7%A8%8B\"><\/span>8. \u5bb6\u5ead\u4e0e\u533b\u7597\u8005\u7684\u51b3\u7b56\u8fc7\u7a0b<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u5f53\u4ea7\u524d\u68c0\u6d4b\u63d0\u793a\u53ef\u80fd\u5b58\u5728\u67d3\u8272\u4f53\u5f02\u5e38\u65f6\uff0c\u5bb6\u5ead\u901a\u5e38\u4f1a\u7ecf\u5386\u4ee5\u4e0b\u9636\u6bb5\u6765\u505a\u51fa\u51b3\u7b56\uff1a<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li>\u6b63\u786e\u8ba4\u7406\u89e3\u68c0\u6d4b\u7ed3\u679c<\/li>\n\n\n\n<li>\u5224\u65ad\u662f\u5426\u63a5\u53d7\u7f8a\u6c34\u7a7f\u523a\u7b49\u786e\u8bca\u68c0\u6d4b<\/li>\n\n\n\n<li>\u8003\u8651\u51fa\u751f\u540e\u751f\u6d3b\u3001\u533b\u7597\u4e0e\u6559\u80b2\u7684\u51c6\u5907<br>\u5728\u8fd9\u4e00\u8fc7\u7a0b\u4e2d\uff0c\u9057\u4f20\u54a8\u8be2\u626e\u6f14\u5173\u952e\u89d2\u8272\uff0c\u4e13\u4e1a\u4eba\u5458\u5e2e\u52a9\u89e3\u91ca\u7ed3\u679c\u610f\u4e49\u3001\u51cf\u8f7b\u5bb6\u5ead\u5fc3\u7406\u8d1f\u62c5\u3002<\/li>\n<\/ol>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"9_%E7%A4%BE%E4%BC%9A%E4%B8%8E%E4%BC%A6%E7%90%86%E8%AE%AE%E9%A2%98\"><\/span>9. \u793e\u4f1a\u4e0e\u4f26\u7406\u8bae\u9898<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u867d\u7136\u67d3\u8272\u4f53\u5f02\u5e38\u65e9\u671f\u53d1\u73b0\u662f\u533b\u5b66\u8fdb\u6b65\uff0c\u4f46\u4e5f\u4f34\u968f\u7740\u4ee5\u4e0b\u6311\u6218\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u62c5\u5fe7\u201c\u4e0d\u8981\u751f\u4e0b\u6b8b\u969c\u513f\u7ae5\u201d\u7684\u793e\u4f1a\u538b\u529b<\/li>\n\n\n\n<li>\u68c0\u6d4b\u8bbf\u95ee\u56e0\u5730\u57df\u6216\u7ecf\u6d4e\u72b6\u51b5\u4e0d\u5747\u8861<\/li>\n\n\n\n<li>\u4fe1\u606f\u8fc7\u8f7d\u5f15\u53d1\u5fc3\u7406\u538b\u529b<br>\u56e0\u6b64\uff0c\u4ea7\u524d\u8bca\u65ad\u4e0d\u4ec5\u8981\u63d0\u4f9b\u533b\u5b66\u4fe1\u606f\uff0c\u8fd8\u987b\u914d\u5408\u793e\u4f1a\u652f\u63f4\u5236\u5ea6\u7684\u5efa\u8bbe\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"10_%E5%87%BA%E7%94%9F%E5%90%8E%E5%8F%AF%E5%88%A9%E7%94%A8%E7%9A%84%E6%94%AF%E6%8F%B4\"><\/span>10. \u51fa\u751f\u540e\u53ef\u5229\u7528\u7684\u652f\u63f4<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u5373\u4f7f\u5b58\u5728\u5fae\u5c0f\u7684\u67d3\u8272\u4f53\u5f02\u5e38\uff0c\u901a\u8fc7\u59a5\u5584\u7684\u533b\u7597\u4e0e\u652f\u63f4\uff0c\u513f\u7ae5\u53d1\u5c55\u53ef\u53d7\u5230\u91cd\u5927\u6539\u5584\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u65e9\u671f\u5e72\u9884\u8ba1\u5212\uff08\u7269\u7406\u6cbb\u7597\u3001\u4f5c\u4e1a\u6cbb\u7597\u3001\u8bed\u8a00\u6cbb\u7597\uff09<\/li>\n\n\n\n<li>\u5229\u7528\u5730\u533a\u6b8b\u969c\u513f\u7ae5\u901a\u56ed\u8bbe\u65bd\u4e0e\u652f\u63f4\u670d\u52a1<\/li>\n\n\n\n<li>\u533b\u7597\u3001\u6559\u80b2\u3001\u798f\u5229\u7684\u8054\u52a8\u652f\u6301\u673a\u5236<br>\u82e5\u4ea7\u524d\u5df2\u77e5\u98ce\u9669\uff0c\u80fd\u591f\u8ba9\u4e0a\u8ff0\u652f\u63f4\u66f4\u65e9\u3001\u66f4\u987a\u7545\u5730\u542f\u52a8\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"11_%E6%9C%AA%E6%9D%A5%E5%B1%95%E6%9C%9B\"><\/span>11. \u672a\u6765\u5c55\u671b<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u968f\u7740\u4e0b\u4e00\u4ee3\u6d4b\u5e8f\u6280\u672f\u7684\u8fdb\u5c55\uff0c\u672a\u6765\u6709\u671b\u63a2\u6d4b\u66f4\u5c0f\u5c3a\u5ea6\u7684\u67d3\u8272\u4f53\u5f02\u5e38\u6216\u5355\u57fa\u56e0\u5c42\u9762\u7684\u7a81\u53d8\u3002<br>\u4e0e\u6b64\u540c\u65f6\uff0c\u7ed3\u679c\u7684\u89e3\u91ca\u80fd\u529b\u3001\u793e\u4f1a\u63a5\u7eb3\u5ea6\u7b49\u6311\u6218\u4ecd\u5c06\u6301\u7eed\uff0c\u56e0\u6b64\u9700\u8981\u533b\u5b66\u3001\u4f26\u7406\u3001\u798f\u7949\u4e09\u65b9\u9762\u534f\u540c\u53d1\u5c55\u652f\u63f4\u4f53\u7cfb\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"12_%E6%9F%93%E8%89%B2%E4%BD%93%E5%BC%82%E5%B8%B8%E6%97%A9%E6%9C%9F%E5%8F%91%E7%8E%B0%E5%AF%B9%E5%AE%B6%E5%BA%AD%E7%9A%84%E5%BD%B1%E5%93%8D\"><\/span>12. \u67d3\u8272\u4f53\u5f02\u5e38\u65e9\u671f\u53d1\u73b0\u5bf9\u5bb6\u5ead\u7684\u5f71\u54cd<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u5728\u51fa\u751f\u524d\u5f97\u77e5\u67d3\u8272\u4f53\u5f02\u5e38\u7684\u53ef\u80fd\u6027\uff0c\u4e0d\u4ec5\u5e26\u6765\u533b\u5b66\u5c42\u9762\u7684\u76ca\u5904\uff0c\u5bf9\u5bb6\u5ead\u5fc3\u7406\u4e0e\u751f\u6d3b\u89c4\u5212\u4e5f\u6709\u6df1\u8fdc\u5f71\u54cd\u3002<\/p>\n\n\n\n<p><strong>\u63d0\u524d\u5229\u7528\u793e\u4f1a\u8d44\u6e90<\/strong>\uff1a\u5728\u51fa\u751f\u524d\u5c31\u4e86\u89e3\u6b8b\u969c\u513f\u7ae5\u652f\u63f4\u5236\u5ea6\u3001\u533b\u7597\u8d39\u8865\u52a9\u7b49\uff0c\u51c6\u5907\u624b\u7eed<br>\u56e0\u6b64\uff0c\u65e9\u671f\u53d1\u73b0\u4e0d\u4ec5\u5173\u7cfb\u5b69\u5b50\uff0c\u4e5f\u76f4\u63a5\u5173\u8054\u5230\u5bb6\u5ead\u7684\u751f\u6d3b\u8d28\u91cf\u63d0\u5347\u3002<\/p>\n\n\n\n<p><strong>\u5fc3\u7406\u51c6\u5907<\/strong>\uff1a\u4e8b\u5148\u83b7\u53d6\u4fe1\u606f\uff0c\u53ef\u51cf\u8f7b\u51fa\u751f\u540e\u88ab\u7a81\u7136\u544a\u77e5\u7684\u51b2\u51fb<\/p>\n\n\n\n<p><strong>\u89c4\u5212\u751f\u80b2\u4e0e\u80b2\u513f<\/strong>\uff1a\u53ef\u9009\u62e9\u5408\u9002\u4ea7\u79d1\u673a\u6784\u3001\u505a\u597d\u65b0\u751f\u513f\u533b\u7597\u51c6\u5907<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2025\/09\/3388724_s.webp\" alt=\"\u598a\u5a66\" class=\"wp-image-116668\"\/><\/figure><\/div>\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"13_%E9%81%97%E4%BC%A0%E5%92%A8%E8%AF%A2%E7%9A%84%E8%A7%92%E8%89%B2\"><\/span>13. \u9057\u4f20\u54a8\u8be2\u7684\u89d2\u8272<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u5728\u4ea7\u524d\u8bca\u65ad\u4e2d\uff0c\u9057\u4f20\u54a8\u8be2\u62c5\u8d1f\u7740\u91cd\u8981\u804c\u8d23\u3002\u9057\u4f20\u54a8\u8be2\u5e08\u4e0e\u533b\u751f\u63d0\u4f9b\u4ee5\u4e0b\u652f\u6301\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5bf9\u68c0\u6d4b\u5185\u5bb9\u4e0e\u7ed3\u679c\u7684\u7cbe\u786e\u89e3\u8bfb<\/li>\n\n\n\n<li>\u8bf4\u660e\u68c0\u6d4b\u7ed3\u679c\u7684\u533b\u5b66\u610f\u4e49\u4e0e\u53ef\u80fd\u51fa\u73b0\u7684\u8868\u73b0<\/li>\n\n\n\n<li>\u652f\u6301\u5bb6\u5ead\u5728\u5176\u4ef7\u503c\u89c2\u57fa\u7840\u4e0a\u505a\u51fa\u51b3\u7b56<\/li>\n\n\n\n<li>\u6307\u5bfc\u53ef\u5229\u7528\u7684\u793e\u4f1a\u4e0e\u5e72\u9884\u652f\u63f4\u4f53\u7cfb<br>\u6709\u4e86\u8fd9\u4e00\u8fc7\u7a0b\uff0c\u5bb6\u5ead\u53ef\u4ee5\u6574\u7406\u4fe1\u606f\u3001\u51b7\u9759\u5224\u65ad\u4e0b\u4e00\u6b65\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"14_%E7%A4%BE%E4%BC%9A%E4%B8%8E%E4%BC%A6%E7%90%86%E7%9A%84%E5%85%B3%E6%80%80\"><\/span>14. \u793e\u4f1a\u4e0e\u4f26\u7406\u7684\u5173\u6000<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u968f\u7740\u5fae\u5c0f\u67d3\u8272\u4f53\u5f02\u5e38\u65e9\u671f\u53d1\u73b0\u8d8a\u6765\u8d8a\u666e\u53ca\uff0c\u4ee5\u4e0b\u95ee\u9898\u9010\u6e10\u51f8\u663e\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5982\u4f55\u5e94\u5bf9\u201c\u9009\u62e9\u538b\u529b\u201d\u2014\u2014\u5f02\u5e38\u88ab\u53d1\u73b0\u662f\u5426\u6210\u4e3a\u4e2d\u6b62\u598a\u5a20\u7684\u538b\u529b\u6765\u6e90\uff1f<\/li>\n\n\n\n<li>\u5982\u4f55\u6d88\u9664\u4fe1\u606f\u4e0e\u8d44\u6e90\u4e0d\u516c\u5e73\uff1f\u57ce\u4e61\u4e4b\u95f4\u3001\u7ecf\u6d4e\u5c42\u6b21\u4e4b\u95f4\u7684\u5dee\u5f02\u53ef\u80fd\u5f71\u54cd\u68c0\u6d4b\u4e0e\u54a8\u8be2\u7684\u83b7\u53d6<\/li>\n\n\n\n<li>\u5982\u4f55\u63d0\u9ad8\u793e\u4f1a\u5bf9\u6b8b\u969c\u4eba\u58eb\u7684\u63a5\u7eb3\u4e0e\u652f\u63f4\u6c34\u5e73\uff1f<br>\u533b\u5b66\u8fdb\u6b65\u5fc5\u987b\u4f34\u968f\u793e\u4f1a\u652f\u63f4\u4e0e\u4f26\u7406\u601d\u8003\u5171\u540c\u53d1\u5c55\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"15_%E5%87%BA%E7%94%9F%E5%90%8E%E5%8C%BB%E7%96%97%E4%B8%8E%E5%BA%B7%E5%A4%8D%E7%9A%84%E5%85%B7%E4%BD%93%E5%AE%9E%E4%BE%8B\"><\/span>15. \u51fa\u751f\u540e\u533b\u7597\u4e0e\u5eb7\u590d\u7684\u5177\u4f53\u5b9e\u4f8b<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u5bf9\u4e8e\u5b58\u5728\u67d3\u8272\u4f53\u5f02\u5e38\u7684\u513f\u7ae5\uff0c\u4ece\u51fa\u751f\u8d77\u5c31\u9700\u8981\u83b7\u5f97\u53ca\u65f6\u7684\u533b\u7597\u4e0e\u5eb7\u590d\u652f\u6301\u3002<br><strong>\u533b\u7597\u65b9\u9762<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5148\u5929\u6027\u5fc3\u810f\u75c5\u6216\u547c\u5438\u95ee\u9898\u7684\u65e9\u671f\u5904\u7406<\/li>\n\n\n\n<li>\u5b9a\u671f\u6210\u957f\u4e0e\u53d1\u80b2\u76d1\u6d4b<\/li>\n<\/ul>\n\n\n\n<p><strong>\u5eb7\u590d\u65b9\u9762<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u63d0\u524d\u542f\u52a8\u7269\u7406\u6cbb\u7597\u3001\u4f5c\u4e1a\u6cbb\u7597\u3001\u8bed\u8a00\u6cbb\u7597<\/li>\n\n\n\n<li>\u5728\u5bb6\u5ead\u4e2d\u5f15\u5165\u53d1\u80b2\u652f\u6301\u65b9\u6848<\/li>\n<\/ul>\n\n\n\n<p><strong>\u6559\u80b2 \/ \u798f\u5229\u65b9\u9762<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5229\u7528\u5730\u533a\u6b8b\u969c\u513f\u7ae5\u901a\u56ed\u670d\u52a1\u4e0e\u7279\u522b\u652f\u63f4\u6559\u80b2<\/li>\n\n\n\n<li>\u533b\u7597\u3001\u798f\u5229\u3001\u6559\u80b2\u4e09\u65b9\u9762\u534f\u4f5c\u63d0\u4f9b\u6574\u4f53\u652f\u63f4<\/li>\n<\/ul>\n\n\n\n<p>\u82e5\u80fd\u5728\u4ea7\u524d\u5c31\u638c\u63e1\u5f02\u5e38\u60c5\u51b5\uff0c\u5c31\u53ef\u66f4\u987a\u7545\u5730\u542f\u52a8\u4e0a\u8ff0\u652f\u63f4\u4f53\u7cfb\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"16_%E6%9C%80%E6%96%B0%E7%A0%94%E7%A9%B6%E5%8A%A8%E5%90%91\"><\/span>16. \u6700\u65b0\u7814\u7a76\u52a8\u5411<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u5173\u4e8e\u67d3\u8272\u4f53\u5f02\u5e38\u7684\u7814\u7a76\u6b63\u8fc5\u901f\u53d1\u5c55\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5168\u67d3\u8272\u4f53 <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> \u7684\u666e\u53ca\uff0c\u4f7f\u5f97\u4e0d\u4ec5\u80fd\u7b5b\u67e5\u6570\u76ee\u5f02\u5e38\uff0c\u4e5f\u80fd\u68c0\u6d4b\u5fae\u5c0f\u7f3a\u5931 \/ \u91cd\u590d<\/li>\n\n\n\n<li>\u5fae\u9635\u5217\uff08microarray\uff09\u5206\u6790\u4e0e NGS\uff08\u6b21\u4e16\u4ee3\u6d4b\u5e8f\uff09\u6280\u672f\u7684\u5e94\u7528<br>\u2192 \u53ef\u9ad8\u7cbe\u5ea6\u68c0\u6d4b\u6570\u5341\u4e07\u81f3\u51e0\u767e\u4e07\u78b1\u57fa\u5bf9\u7ea7\u522b\u7684\u5f02\u5e38<\/li>\n\n\n\n<li>\u4e0e\u57fa\u56e0\u7ec4\u533b\u7597\u7684\u878d\u5408<br>\u2192 \u4f7f\u4ea7\u524d\u8bca\u65ad\u4e0e\u51fa\u751f\u540e\u7684\u7cbe\u51c6\u533b\u7597\u652f\u63f4\u9010\u6e10\u8854\u63a5<br>\u672a\u6765\uff0c\u4ea7\u524d\u8bca\u65ad\u4e0e\u51fa\u751f\u540e\u57fa\u56e0\u7ec4\u533b\u7597\u7684\u6574\u5408\u6709\u671b\u8ba9\u513f\u7ae5\u53d1\u80b2\u652f\u63f4\u66f4\u6709\u6548\u7387\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"17_%E5%AE%B6%E5%BA%AD%E5%BA%94%E4%BA%8B%E5%85%88%E6%B3%A8%E6%84%8F%E7%9A%84%E4%BA%8B%E9%A1%B9\"><\/span>17. \u5bb6\u5ead\u5e94\u4e8b\u5148\u6ce8\u610f\u7684\u4e8b\u9879<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u5728\u63a5\u53d7 <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> \u6216\u67d3\u8272\u4f53\u68c0\u6d4b\u4e4b\u524d\uff0c\u5bb6\u5ead\u95f4\u5efa\u8bae\u5148\u8ba8\u8bba\u4ee5\u4e0b\u4e8b\u9879\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u63a5\u53d7\u68c0\u6d4b\u7684\u76ee\u7684\u662f\u4ec0\u4e48\uff1f<\/li>\n\n\n\n<li>\u82e5\u7ed3\u679c\u5448\u9633\u6027\uff0c\u5e94\u5982\u4f55\u5e94\u5bf9\uff1f<\/li>\n\n\n\n<li>\u51fa\u751f\u540e\u5e0c\u671b\u83b7\u5f97\u4f55\u79cd\u652f\u63f4\uff1f<\/li>\n<\/ul>\n\n\n\n<p>\u6709\u4e86\u8fd9\u4e9b\u4e8b\u524d\u51c6\u5907\uff0c\u5f53\u68c0\u6d4b\u7ed3\u679c\u5230\u6765\u65f6\uff0c\u5bb6\u5ead\u4fbf\u4e0d\u81f3\u4e8e\u9677\u5165\u88ab\u52a8\uff0c\u800c\u80fd\u79ef\u6781\u5e94\u5bf9\u4e0e\u5224\u65ad\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%80%BB%E7%BB%93%EF%BC%9A%E7%90%86%E8%A7%A3%E6%9F%93%E8%89%B2%E4%BD%93%E5%B0%8F%E5%BC%82%E5%B8%B8%EF%BC%8C%E5%BC%80%E5%90%AF%E4%B8%8D%E5%90%8C%E7%9A%84%E6%9C%AA%E6%9D%A5\"><\/span><strong>\u603b\u7ed3\uff1a\u7406\u89e3\u67d3\u8272\u4f53\u5c0f\u5f02\u5e38\uff0c\u5f00\u542f\u4e0d\u540c\u7684\u672a\u6765<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u67d3\u8272\u4f53\u5f02\u5e38\u662f\u667a\u529b\u969c\u788d\u4e0e\u53d1\u80b2\u969c\u788d\u7684\u91cd\u8981\u539f\u56e0\u4e4b\u4e00<\/li>\n\n\n\n<li>\u5373\u4f7f\u5fae\u5c0f\u7684\u7f3a\u5931 \/ \u91cd\u590d\uff0c\u4e5f\u53ef\u5bf9\u795e\u7ecf\u53d1\u80b2\u4ea7\u751f\u91cd\u5927\u5f71\u54cd<\/li>\n\n\n\n<li>\u901a\u8fc7 <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> \u7b49\u4ea7\u524d\u68c0\u6d4b\uff0c\u53ef\u53ca\u65e9\u4e86\u89e3\u98ce\u9669\uff0c\u5e76\u4fc3\u8fdb\u533b\u7597\u3001\u5eb7\u590d\u3001\u5bb6\u5ead\u652f\u63f4\u7684\u63d0\u524d\u51c6\u5907<\/li>\n\n\n\n<li>\u5728\u5173\u6ce8\u533b\u5b66\u8fdb\u6b65\u7684\u540c\u65f6\uff0c\u4e5f\u9700\u91cd\u89c6\u793e\u4f1a\u4f26\u7406\u4e0e\u652f\u63f4\u5236\u5ea6\u5efa\u8bbe<\/li>\n\n\n\n<li>\u6b63\u786e\u8ba4\u8bc6\u67d3\u8272\u4f53\u5f02\u5e38\uff0c\u662f\u4e3a\u5b69\u5b50\u4e0e\u5bb6\u5ead\u521b\u9020\u66f4\u6709\u4fdd\u969c\u3001\u66f4\u5b89\u5fc3\u672a\u6765\u7684\u91cd\u8981\u7b2c\u4e00\u6b65<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%8F%82%E8%80%83%E6%96%87%E7%8C%AE%EF%BC%88%E8%AF%81%E6%8D%AE%EF%BC%89\"><\/span><strong>\u53c2\u8003\u6587\u732e\uff08\u8bc1\u636e\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u65e5\u672c\u4ea7\u79d1\u5987\u79d1\u5b66\u4f1a\u300a\u5173\u4e8e\u4ea7\u524d\u8bca\u65ad\u7684\u89c1\u89e3\u300b<br>Shaffer LG \u7b49\uff0c\u300aAmerican Journal of Human Genetics\u300b\uff0c2007\uff1b80\uff1a605\u2011616<br>Miller DT \u7b49\uff0c\u300aGenetics in Medicine\u300b\uff0c2010\uff1b12(11)\uff1a742\u2011755<br>Xu Y \u7b49\uff0c\u300aPrenatal Diagnosis\u300b\uff0c2020\uff1b40(7)\uff1a869\u2011879<br>Wilson KL \u7b49\uff0c\u300aGenetics in Medicine\u300b\uff0c2021\uff1b23\uff1a1222\u20111231<\/p>\n\n\n\n<p><\/p>\n","protected":false},"excerpt":{"rendered":"1. \u524d\u8a00\uff1a\u667a\u529b\u969c\u788d\u4e0e\u67d3\u8272\u4f53\u5f02\u5e38\u7684\u5173\u8054 &#8230;\n <a 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