{"id":116109,"date":"2025-09-24T17:34:44","date_gmt":"2025-09-24T08:34:44","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-22q11-deletion\/"},"modified":"2025-09-24T17:39:41","modified_gmt":"2025-09-24T08:39:41","slug":"nipt-22q11-deletion","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-22q11-deletion\/?lang=zh-hans","title":{"rendered":"22q11.2 \u7f3a\u5931\u7efc\u5408\u75c7\uff08\u8fea\u4e54\u6cbb\u7efc\u5408\u75c7\uff09\u901a\u8fc7 NIPT \u7684\u53ef\u68c0\u6d4b\u6027"},"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\/nipt-22q11-deletion\/?lang=zh-hans\/#1_%E5%BC%95%E8%A8%80\" >1. \u5f15\u8a00<\/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\/nipt-22q11-deletion\/?lang=zh-hans\/#2_22q112_%E7%BC%BA%E5%A4%B1%E7%BB%BC%E5%90%88%E7%97%87%EF%BC%88%E8%BF%AA%E4%B9%94%E6%B2%BB%E7%BB%BC%E5%90%88%E7%97%87%EF%BC%89%E6%98%AF%E4%BB%80%E4%B9%88%EF%BC%9F\" >2. 22q11.2 \u7f3a\u5931\u7efc\u5408\u75c7\uff08\u8fea\u4e54\u6cbb\u7efc\u5408\u75c7\uff09\u662f\u4ec0\u4e48\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\/nipt-22q11-deletion\/?lang=zh-hans\/#3_NIPT%EF%BC%88%E6%97%A0%E5%88%9B%E4%BA%A7%E5%89%8D%E9%81%97%E4%BC%A0%E5%AD%A6%E6%A3%80%E6%B5%8B%EF%BC%89%E6%A6%82%E5%86%B5\" >3. NIPT\uff08\u65e0\u521b\u4ea7\u524d\u9057\u4f20\u5b66\u68c0\u6d4b\uff09\u6982\u51b5<\/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\/nipt-22q11-deletion\/?lang=zh-hans\/#4_%E8%BF%AA%E4%B9%94%E6%B2%BB%E7%BB%BC%E5%90%88%E7%97%87%E7%9A%84_NIPT_%E6%A3%80%E6%B5%8B%E5%8F%AF%E8%83%BD%E6%80%A7\" >4. \u8fea\u4e54\u6cbb\u7efc\u5408\u75c7\u7684 NIPT \u68c0\u6d4b\u53ef\u80fd\u6027<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-22q11-deletion\/?lang=zh-hans\/#41_%E6%8A%80%E6%9C%AF%E8%83%8C%E6%99%AF\" >4.1 \u6280\u672f\u80cc\u666f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-22q11-deletion\/?lang=zh-hans\/#42_%E6%A3%80%E6%B5%8B%E7%B2%BE%E5%BA%A6\" >4.2 \u68c0\u6d4b\u7cbe\u5ea6<\/a><\/li><\/ul><\/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\/nipt-22q11-deletion\/?lang=zh-hans\/#5_NIPT_%E7%9A%84%E5%B1%80%E9%99%90%E6%80%A7%E4%B8%8E%E6%B3%A8%E6%84%8F%E4%BA%8B%E9%A1%B9\" >5. NIPT \u7684\u5c40\u9650\u6027\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\/nipt-22q11-deletion\/?lang=zh-hans\/#6_%E4%B8%B4%E5%BA%8A%E6%84%8F%E4%B9%89\" >6. \u4e34\u5e8a\u610f\u4e49<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-22q11-deletion\/?lang=zh-hans\/#61_%E5%AF%B9%E5%AD%95%E5%A6%87%EF%BC%8F%E5%AE%B6%E5%BA%AD%E7%9A%84%E5%BD%B1%E5%93%8D\" >6.1 \u5bf9\u5b55\u5987\uff0f\u5bb6\u5ead\u7684\u5f71\u54cd<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-22q11-deletion\/?lang=zh-hans\/#62_%E5%8C%BB%E5%8A%A1%E4%BA%BA%E5%91%98%E7%9A%84%E7%94%A8%E9%80%94\" >6.2 \u533b\u52a1\u4eba\u5458\u7684\u7528\u9014<\/a><\/li><\/ul><\/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\/nipt-22q11-deletion\/?lang=zh-hans\/#7_%E5%9B%BD%E9%99%85%EF%BC%8F%E5%90%84%E5%9B%BD%E6%8C%87%E5%8D%97\" >7. \u56fd\u9645\uff0f\u5404\u56fd\u6307\u5357<\/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\/nipt-22q11-deletion\/?lang=zh-hans\/#8_%E5%AD%95%E5%A6%87%E5%BA%94%E7%9F%A5%E4%BA%8B%E9%A1%B9\" >8. \u5b55\u5987\u5e94\u77e5\u4e8b\u9879<\/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\/nipt-22q11-deletion\/?lang=zh-hans\/#9_%E5%B0%8F%E7%BB%93%E8%87%B3%E6%AD%A4\" >9. \u5c0f\u7ed3\u81f3\u6b64<\/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\/nipt-22q11-deletion\/?lang=zh-hans\/#10_%E8%BF%AA%E4%B9%94%E6%B2%BB%E7%BB%BC%E5%90%88%E7%97%87_NIPT_%E7%AD%9B%E6%9F%A5%E6%B5%81%E7%A8%8B\" >10. \u8fea\u4e54\u6cbb\u7efc\u5408\u75c7 NIPT \u7b5b\u67e5\u6d41\u7a0b<\/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\/nipt-22q11-deletion\/?lang=zh-hans\/#11_%E9%80%89%E6%8B%A9%E5%8C%BB%E7%96%97%E6%9C%BA%E6%9E%84%E7%9A%84%E8%A6%81%E7%82%B9\" >11. \u9009\u62e9\u533b\u7597\u673a\u6784\u7684\u8981\u70b9<\/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\/nipt-22q11-deletion\/?lang=zh-hans\/#12_%E9%81%97%E4%BC%A0%E5%92%A8%E8%AF%A2%E7%9A%84%E9%87%8D%E8%A6%81%E6%80%A7\" >12. \u9057\u4f20\u54a8\u8be2\u7684\u91cd\u8981\u6027<\/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\/nipt-22q11-deletion\/?lang=zh-hans\/#13_%E6%9C%AA%E6%9D%A5%E5%B1%95%E6%9C%9B\" >13. \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-18\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-22q11-deletion\/?lang=zh-hans\/#14_%E7%BB%93%E8%AF%AD\" >14. \u7ed3\u8bed<\/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\/nipt-22q11-deletion\/?lang=zh-hans\/#%E5%8F%82%E8%80%83%E6%96%87%E7%8C%AE\" >\u53c2\u8003\u6587\u732e<\/a><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E5%BC%95%E8%A8%80\"><\/span>1. \u5f15\u8a00<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>22q11.2 \u7f3a\u5931\u7efc\u5408\u75c7\uff08\u8fea\u4e54\u6cbb\u7efc\u5408\u75c7\uff09\u662f\u7531\u4e8e\u4eba\u4f53\u7b2c 22 \u53f7\u67d3\u8272\u4f53\u957f\u81c2\u67d0\u4e00\u533a\u57df\u53d1\u751f\u7f3a\u5931\u800c\u5bfc\u81f4\u7684\u67d3\u8272\u4f53\u5f02\u5e38\u3002\u5176\u5178\u578b\u7684\u4e34\u5e8a\u8868\u73b0\u5305\u62ec\u5148\u5929\u6027\u5fc3\u810f\u75c5\u3001\u514d\u75ab\u529f\u80fd\u7f3a\u9677\u3001\u816d\u88c2\u3001\u53d1\u80b2\u8fdf\u7f13\u3001\u7cbe\u795e\u795e\u7ecf\u75c7\u72b6\u7b49\uff0c\u5177\u6709\u6781\u9ad8\u7684\u5f02\u8d28\u6027\u3002\u56e0\u6b64\uff0c\u5728\u4ea7\u524d\u8fdb\u884c\u8bca\u65ad\u6216\u65e9\u671f\u53d1\u73b0\uff0c\u5bf9\u7ba1\u7406\u4e0e\u5e72\u9884\u5177\u6709\u91cd\u8981\u610f\u4e49\u3002<br>\u4f20\u7edf\u4e0a\uff0c\u8be5\u75be\u75c5\u7684\u8bca\u65ad\u5f80\u5f80\u4f9d\u8d56\u7f8a\u6c34\u7a7f\u523a\u6216\u7ed2\u6bdb\u53d6\u6837\u8fdb\u884c\u786e\u8bca\uff0c\u8fd9\u4e9b\u65b9\u6cd5\u5177\u6709\u4e00\u5b9a\u7684\u6d41\u4ea7\u98ce\u9669\u4e0e\u4fb5\u5165\u6027\u95ee\u9898\u3002\u8fd1\u5e74\u6765\uff0c\u65e0\u521b\u4ea7\u524d\u9057\u4f20\u68c0\u6d4b\uff08<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>\uff0cNon\u2011Invasive Prenatal Testing\uff09\u7684\u5f15\u5165\u4f7f\u5f97\u53ef\u4ee5\u901a\u8fc7\u6bcd\u4f53\u8840\u6db2\u4e2d\u7684\u80ce\u513f\u6765\u6e90\u6e38\u79bb DNA \u8fdb\u884c\u7b5b\u67e5\u3002\u5bf9\u4e8e\u50cf\u8fea\u4e54\u6cbb\u7efc\u5408\u75c7\u8fd9\u6837\u7684<strong>\u5fae\u5c0f\u7f3a\u5931\uff08microdeletion\uff09<\/strong>\uff0c\u5229\u7528 <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> \u8fdb\u884c\u68c0\u6d4b\u7684\u53ef\u80fd\u6027\u9010\u6e10\u53d7\u5230\u5173\u6ce8\u3002<br>\u672c\u6587\u5c06\u57fa\u4e8e\u6700\u65b0\u7814\u7a76\u8bc1\u636e\uff0c\u8ba8\u8bba\u8fea\u4e54\u6cbb\u7efc\u5408\u75c7\u901a\u8fc7 <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> \u68c0\u6d4b\u7684\u53ef\u80fd\u6027\u3001\u7cbe\u5ea6\u3001\u5c40\u9650\u6027\u53ca\u5176\u4e34\u5e8a\u610f\u4e49\u3002<\/p>\n\n\n\n<p><\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_22q112_%E7%BC%BA%E5%A4%B1%E7%BB%BC%E5%90%88%E7%97%87%EF%BC%88%E8%BF%AA%E4%B9%94%E6%B2%BB%E7%BB%BC%E5%90%88%E7%97%87%EF%BC%89%E6%98%AF%E4%BB%80%E4%B9%88%EF%BC%9F\"><\/span>2. 22q11.2 \u7f3a\u5931\u7efc\u5408\u75c7\uff08\u8fea\u4e54\u6cbb\u7efc\u5408\u75c7\uff09\u662f\u4ec0\u4e48\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u8fea\u4e54\u6cbb\u7efc\u5408\u75c7\u662f\u7531 22q11.2 \u533a\u57df\u7ea6 1.5 \u81f3 3 Mb \u7684\u7f3a\u5931\u5f15\u8d77\u7684\u9057\u4f20\u6027\u75be\u75c5\u3002\u5176\u4e34\u5e8a\u7279\u5f81\u5305\u62ec\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5148\u5929\u6027\u5fc3\u810f\u75c5<\/strong>\uff1a\u5c24\u5176\u4ee5\u6cd5\u6d1b\u56db\u8054\u75c7\u6216\u5ba4\u95f4\u9694\u7f3a\u635f\u8f83\u4e3a\u5e38\u89c1<\/li>\n\n\n\n<li><strong>\u816d\u88c2<\/strong>\uff1a\u5305\u62ec\u816d\u88c2\u6216\u816d\u9ecf\u819c\u5f02\u5e38<\/li>\n\n\n\n<li><strong>\u514d\u75ab\u5f02\u5e38<\/strong>\uff1a\u80f8\u817a\u53d1\u80b2\u4e0d\u826f\u5bfc\u81f4 T \u7ec6\u80de\u51cf\u5c11\u3001\u611f\u67d3\u6613\u611f\u6027\u589e\u9ad8<\/li>\n\n\n\n<li><strong>\u53d1\u80b2\u8fdf\u7f13 \/ \u667a\u529b\u969c\u788d<\/strong>\uff1a\u8bed\u8a00\u53d1\u80b2\u5ef6\u8fdf\u3001\u5b66\u4e60\u969c\u788d<\/li>\n\n\n\n<li><strong>\u7cbe\u795e\/\u795e\u7ecf\u75c7\u72b6<\/strong>\uff1a\u5982\u6ce8\u610f\u529b\u4e0d\u96c6\u4e2d \/ \u591a\u52a8\u75c7\uff08<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/adhd-genetics-symptoms-support\/\">ADHD<\/a>\uff09\u3001\u81ea\u95ed\u75c7\u8c31\u7cfb\u969c\u788d\u3001\u7cbe\u795e\u5206\u88c2\u75c7\u98ce\u9669\u589e\u52a0<\/li>\n<\/ul>\n\n\n\n<p>\u5176\u53d1\u75c5\u7387\u7ea6\u4e3a\u6bcf 4,000 \u81f3 6,000 \u4e2a\u65b0\u751f\u513f\u4e2d\u7ea6 1 \u4f8b\uff0c\u4e34\u5e8a\u4e0a\u5e38\u5b58\u5728\u8bca\u65ad\u5ef6\u8bef\u7684\u60c5\u51b5\u3002\u56e0\u6b64\uff0c\u5728\u5b55\u671f\u8fdb\u884c\u4ea7\u524d\u8bca\u65ad\u5728\u75be\u75c5\u7ba1\u7406\u548c\u4e3a\u5bb6\u5ead\u63d0\u4f9b\u4fe1\u606f\u65b9\u9762\u5177\u6709\u91cd\u8981\u610f\u4e49\u3002<\/p>\n\n\n\n<p><\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_NIPT%EF%BC%88%E6%97%A0%E5%88%9B%E4%BA%A7%E5%89%8D%E9%81%97%E4%BC%A0%E5%AD%A6%E6%A3%80%E6%B5%8B%EF%BC%89%E6%A6%82%E5%86%B5\"><\/span>3. NIPT\uff08\u65e0\u521b\u4ea7\u524d\u9057\u4f20\u5b66\u68c0\u6d4b\uff09\u6982\u51b5<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> \u662f\u4e00\u79cd\u5206\u6790\u6bcd\u4f53\u8840\u6db2\u4e2d <strong>\u80ce\u513f\u6765\u6e90\u7684\u6e38\u79bb DNA\uff08cffDNA\uff09<\/strong> \u7684\u68c0\u6d4b\u65b9\u6cd5\uff0c\u7528\u4ee5\u8bc4\u4f30\u67d3\u8272\u4f53\u5f02\u5e38\u98ce\u9669\u3002\u5176\u4e3b\u8981\u7279\u70b9\u5305\u62ec\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u65e0\u521b\u6027<\/strong>\uff1a\u4ec5\u9700\u91c7\u96c6\u6bcd\u4f53\u8840\u6db2\uff0c\u65e0\u6d41\u4ea7\u98ce\u9669<\/li>\n\n\n\n<li><strong>\u9ad8\u7cbe\u5ea6\u7b5b\u67e5<\/strong>\uff1a\u5bf9 21 \u4e09\u4f53\u300118 \u4e09\u4f53\u300113 \u4e09\u4f53\u7684\u68c0\u6d4b\u7075\u654f\u5ea6\u7ea6\u4e3a 99%<\/li>\n\n\n\n<li><strong>\u53ef\u5728\u598a\u5a20 10 \u5468\u4ee5\u540e\u8fdb\u884c<\/strong>\uff1a\u80fd\u591f\u8f83\u65e9\u5f00\u5c55\u7b5b\u67e5<\/li>\n\n\n\n<li>\u867d\u7136\u4f20\u7edf\u4e0a\u4e3b\u8981\u9488\u5bf9\u4e09\u4f53\uff0821\u300118\u300113\uff09\u68c0\u6d4b\uff0c\u8fd1\u5e74\u6765\u6280\u672f\u53d1\u5c55\u4f7f\u5f97\u5fae\u5c0f\u7f3a\u5931\/\u91cd\u590d\u7684\u68c0\u6d4b\u4e5f\u6210\u4e3a\u53ef\u80fd\uff0c\u4ece\u800c\u53ef\u5c06\u8fea\u4e54\u6cbb\u7efc\u5408\u75c7\u7eb3\u5165\u7b5b\u67e5\u8303\u56f4<\/li>\n<\/ul>\n\n\n\n<p><\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E8%BF%AA%E4%B9%94%E6%B2%BB%E7%BB%BC%E5%90%88%E7%97%87%E7%9A%84_NIPT_%E6%A3%80%E6%B5%8B%E5%8F%AF%E8%83%BD%E6%80%A7\"><\/span>4. \u8fea\u4e54\u6cbb\u7efc\u5408\u75c7\u7684 NIPT \u68c0\u6d4b\u53ef\u80fd\u6027<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"41_%E6%8A%80%E6%9C%AF%E8%83%8C%E6%99%AF\"><\/span>4.1 \u6280\u672f\u80cc\u666f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u7531\u4e8e\u8fea\u4e54\u6cbb\u7efc\u5408\u75c7\u5c5e\u4e8e\u5fae\u5c0f\u7f3a\u5931\uff0c\u4ee5\u524d\u7684\u6807\u51c6 <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> \u5728\u68c0\u6d4b\u4e0a\u5b58\u5728\u56f0\u96be\u3002\u7136\u800c\uff0c\u968f\u7740\u9ad8\u7cbe\u5ea6\u6d4b\u5e8f\u6280\u672f\uff08Massively Parallel Sequencing\uff0cMPS\uff09\u4e0e\u9776\u5411\u6355\u83b7\u578b\u5206\u6790\u7684\u5e94\u7528\uff0c\u901a\u8fc7\u6bcd\u4f53\u8840\u6837\u4f30\u7b97 22q11.2 \u533a\u57df\u7684\u62f7\u8d1d\u6570\u53d8\u5316\u6210\u4e3a\u53ef\u80fd\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u66f4\u9ad8\u7684\u6d4b\u5e8f\u6df1\u5ea6<\/strong>\uff1a\u8f83\u6807\u51c6 <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> \u4f7f\u7528\u66f4\u591a\u6d4b\u5e8f\u8bfb\u6bb5\u4ee5\u63d0\u9ad8\u5bf9\u5fae\u5c0f\u7f3a\u5931\u533a\u57df\u7684\u8bc6\u522b\u80fd\u529b<\/li>\n\n\n\n<li><strong>\u751f\u7269\u4fe1\u606f\u5b66\u5206\u6790<\/strong>\uff1a\u5bf9\u7f3a\u5931\u533a\u57df\u4e2d\u7684\u8bfb\u53d6\u6570\u4e0b\u964d\u8fdb\u884c\u7edf\u8ba1\u8bc4\u4f30<\/li>\n\n\n\n<li><strong>\u9776\u5411 <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> \u8bbe\u8ba1<\/strong>\uff1a\u4e13\u95e8\u9488\u5bf9 22q11.2 \u533a\u57df\u8fdb\u884c\u8bbe\u8ba1\uff0c\u4ee5\u8fdb\u4e00\u6b65\u63d0\u5347\u68c0\u6d4b\u7cbe\u5ea6<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"42_%E6%A3%80%E6%B5%8B%E7%B2%BE%E5%BA%A6\"><\/span>4.2 \u68c0\u6d4b\u7cbe\u5ea6<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6839\u636e\u8fd1\u671f\u7684 Meta \u5206\u6790\uff0c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> \u5bf9\u8fea\u4e54\u6cbb\u7efc\u5408\u75c7\u7684 <strong>\u7075\u654f\u5ea6\u7ea6\u4e3a 75\u301c95%\uff0c\u7279\u5f02\u5ea6\u7ea6\u4e3a 99%<\/strong>\u3002\u9633\u6027\u9884\u6d4b\u503c\uff08PPV\uff09\u5219\u4f1a\u56e0\u6bcd\u4f53\u5e74\u9f84\u3001\u598a\u5a20\u5468\u6570\u4ee5\u53ca\u6240\u9009\u4eba\u7fa4\uff08\u9ad8\u98ce\u9669 vs \u666e\u901a\u5b55\u5987\u7fa4\u4f53\uff09\u800c\u53d1\u751f\u53d8\u5316\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5728\u9ad8\u98ce\u9669\u5b55\u5987\u7fa4\u4f53\uff08\u5982\u80ce\u513f\u5df2\u88ab\u6000\u7591\u6709\u5fc3\u810f\u75c5\uff09\u4e2d\uff0cPPV \u6709\u671b\u66f4\u9ad8<\/li>\n\n\n\n<li>\u5728\u4e00\u822c\u4f4e\u98ce\u9669\u4eba\u7fa4\u4e2d\uff0cPPV \u53ef\u80fd\u6709\u6240\u4e0b\u964d\uff0c\u4f46\u4ecd\u5177\u5907\u4f5c\u4e3a\u7b5b\u67e5\u5de5\u5177\u7684\u4ef7\u503c<\/li>\n<\/ul>\n\n\n\n<p><\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"5_NIPT_%E7%9A%84%E5%B1%80%E9%99%90%E6%80%A7%E4%B8%8E%E6%B3%A8%E6%84%8F%E4%BA%8B%E9%A1%B9\"><\/span>5. NIPT \u7684\u5c40\u9650\u6027\u4e0e\u6ce8\u610f\u4e8b\u9879<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u5728\u5229\u7528 <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> \u8fdb\u884c\u8fea\u4e54\u6cbb\u7efc\u5408\u75c7\u7b5b\u67e5\u65f6\uff0c\u9700\u8981\u6ce8\u610f\u4ee5\u4e0b\u5c40\u9650\u4e0e\u98ce\u9669\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u975e\u786e\u8bca\u68c0\u6d4b<\/strong><br><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> \u4e3a\u4e00\u79cd\u7b5b\u67e5\u65b9\u6cd5\uff0c\u82e5\u7ed3\u679c\u4e3a\u9633\u6027\uff0c\u5fc5\u987b\u901a\u8fc7\u7f8a\u6c34\u7a7f\u523a\u6216\u7ed2\u6bdb\u53d6\u6837\u7b49\u65b9\u5f0f\u8fdb\u884c\u786e\u8bca\u3002<\/li>\n\n\n\n<li><strong>\u5047\u9633\u6027 \/ \u5047\u9634\u6027\u98ce\u9669<\/strong><br>\u82e5\u80ce\u513f DNA \u5728\u6bcd\u4f53\u8840\u6db2\u4e2d\u7684\u6bd4\u4f8b\uff08fetal fraction\uff09\u504f\u4f4e\uff0c\u4f1a\u589e\u52a0\u5047\u9634\u6027\u7684\u53ef\u80fd\u6027\u3002\u5728\u53cc\u80ce\u598a\u5a20\u3001\u5b55\u5987\u4f53\u91cd\u8f83\u5927\u7b49\u60c5\u51b5\uff0c\u5e94\u7279\u522b\u6ce8\u610f\u8fd9\u4e00\u98ce\u9669\u3002<\/li>\n\n\n\n<li><strong>\u65e0\u6cd5\u68c0\u6d4b\u6240\u6709 22q11.2 \u7f3a\u5931<\/strong><br>\u6839\u636e\u7f3a\u5931\u5927\u5c0f\u6216\u5177\u4f53\u4f4d\u7f6e\u4e0d\u540c\uff0c\u6709\u4e9b\u7f3a\u5931\u53ef\u80fd\u843d\u5728\u68c0\u6d4b\u76f2\u533a\uff0c\u6216\u8d85\u51fa\u9776\u5411\u8bbe\u8ba1\u8303\u56f4\uff0c\u4ece\u800c\u88ab\u6f0f\u68c0\u3002<\/li>\n\n\n\n<li><strong>\u65e0\u6cd5\u6db5\u76d6\u5168\u90e8\u5fae\u5c0f\u7f3a\u5931 \/ \u91cd\u590d<\/strong><br>\u9664\u4e86 21\u300118\u300113 \u4e09\u4f53\u4ee5\u5916\u7684\u5176\u4ed6\u5fae\u5c0f\u7ed3\u6784\u5f02\u5e38\uff0c\u5982\u679c\u4e0d\u5728\u68c0\u6d4b\u8303\u56f4\u5185\uff0c\u4e5f\u65e0\u6cd5\u88ab\u7b5b\u67e5\u5230\u3002<\/li>\n<\/ul>\n\n\n\n<p><\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"6_%E4%B8%B4%E5%BA%8A%E6%84%8F%E4%B9%89\"><\/span>6. \u4e34\u5e8a\u610f\u4e49<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"61_%E5%AF%B9%E5%AD%95%E5%A6%87%EF%BC%8F%E5%AE%B6%E5%BA%AD%E7%9A%84%E5%BD%B1%E5%93%8D\"><\/span>6.1 \u5bf9\u5b55\u5987\uff0f\u5bb6\u5ead\u7684\u5f71\u54cd<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u901a\u8fc7\u65e9\u671f\u4e86\u89e3\u662f\u5426\u5b58\u5728\u8fea\u4e54\u6cbb\u7efc\u5408\u75c7\u98ce\u9669\uff0c\u53ef\u4ee5\u652f\u6301\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5173\u4e8e <strong>\u662f\u5426\u7ee7\u7eed\u598a\u5a20\u6216\u7ec8\u6b62\u598a\u5a20<\/strong> \u7684\u51b3\u7b56<\/li>\n\n\n\n<li>\u51fa\u751f\u540e <strong>\u65e9\u671f\u533b\u7597\u4e0e\u5e72\u9884\u51c6\u5907<\/strong><\/li>\n\n\n\n<li>\u9488\u5bf9 <strong>\u5fc3\u810f\u75c5\u3001\u514d\u75ab\u5f02\u5e38<\/strong> \u7b49\u95ee\u9898\u7684\u65e9\u671f\u5e72\u9884\u89c4\u5212<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"62_%E5%8C%BB%E5%8A%A1%E4%BA%BA%E5%91%98%E7%9A%84%E7%94%A8%E9%80%94\"><\/span>6.2 \u533b\u52a1\u4eba\u5458\u7684\u7528\u9014<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u4e3a\u9ad8\u98ce\u9669\u5b55\u5987\u7fa4\u4f53\u7b5b\u9009\u76ee\u6807\u5bf9\u8c61<\/li>\n\n\n\n<li>\u51cf\u8f7b\u5b55\u5987\u56e0\u4fb5\u5165\u6027\u68c0\u6d4b\u5e26\u6765\u7684\u5fc3\u7406\u538b\u529b<\/li>\n\n\n\n<li>\u964d\u4f4e\u4e0d\u5fc5\u8981\u7684\u7f8a\u6c34\u7a7f\u523a\u9891\u6b21\uff0c\u4ece\u800c\u51cf\u5c11\u6d41\u4ea7\u98ce\u9669<\/li>\n<\/ul>\n\n\n\n<p><\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"7_%E5%9B%BD%E9%99%85%EF%BC%8F%E5%90%84%E5%9B%BD%E6%8C%87%E5%8D%97\"><\/span>7. \u56fd\u9645\uff0f\u5404\u56fd\u6307\u5357<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7f8e\u56fd\uff08ACOG\uff09<\/strong><br>\u5bf9\u4e8e\u9ad8\u98ce\u9669\u5b55\u5987\uff0c\u5efa\u8bae\u63d0\u4f9b 22q11.2 \u7f3a\u5931\u7efc\u5408\u75c7\u7684 <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> \u68c0\u6d4b\uff0c\u5e76\u5f3a\u8c03\u9633\u6027\u7ed3\u679c\u5fc5\u987b\u8fdb\u884c\u786e\u8bca\u3002<\/li>\n\n\n\n<li><strong>\u6b27\u6d32<\/strong><br>\u5728\u82f1\u56fd\u7b49\u5730\uff0c\u5fae\u5c0f\u7f3a\u5931 <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> \u5df2\u5728\u516c\u8d39\u4f53\u7cfb\u4e0b\u5411\u9ad8\u98ce\u9669\u5b55\u5987\u63d0\u4f9b\u3002\u7b5b\u67e5\u4e4b\u540e\u518d\u8fdb\u884c\u786e\u8bca\uff0c\u662f\u6807\u51c6\u6d41\u7a0b\u3002<\/li>\n\n\n\n<li><strong>\u65e5\u672c<\/strong><br>\u5728\u65e5\u672c\uff0c22q11.2 \u7f3a\u5931\u7efc\u5408\u75c7 <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> \u901a\u5e38\u88ab\u89c6\u4e3a\u81ea\u7531\u8bca\u7597\u9879\u76ee\uff0c\u5bf9\u8c61\u591a\u4e3a 35 \u5c81\u4ee5\u4e0a\u6216\u9ad8\u98ce\u9669\u5b55\u5987\u3002\u5efa\u8bae\u5bf9\u68c0\u6d4b\u7cbe\u5ea6\u3001\u5c40\u9650\u6027\u3001\u9633\u6027\/\u9634\u6027\u7ed3\u679c\u610f\u4e49\u7b49\u7ed9\u4e88\u5145\u5206\u8bf4\u660e\u3002<\/li>\n<\/ul>\n\n\n\n<p><\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"8_%E5%AD%95%E5%A6%87%E5%BA%94%E7%9F%A5%E4%BA%8B%E9%A1%B9\"><\/span>8. \u5b55\u5987\u5e94\u77e5\u4e8b\u9879<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> \u662f\u81ea\u613f\u6027\u8d28\u7684\u68c0\u6d4b<\/li>\n\n\n\n<li>\u9633\u6027\u7ed3\u679c\u4e0d\u7b49\u4e8e\u786e\u8bca<\/li>\n\n\n\n<li>\u57fa\u4e8e\u7ed3\u679c\u505a\u51b3\u7b56\u65f6\uff0c\u9057\u4f20\u54a8\u8be2\u975e\u5e38\u91cd\u8981<\/li>\n\n\n\n<li>\u5e94\u5728\u53ef\u9760\u7684\u533b\u7597\u673a\u6784\u8fdb\u884c\u68c0\u6d4b<\/li>\n\n\n\n<li>\u9700\u7efc\u5408\u8003\u8651\u598a\u5a20\u5468\u6570\u3001\u6bcd\u4f53\u5e74\u9f84\u3001\u80ce\u513f\u5065\u5eb7\u72b6\u6001\u7b49\u56e0\u7d20<\/li>\n<\/ul>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"428\" src=\"\/nipt\/wp-content\/uploads\/2025\/09\/23042281_s.webp\" alt=\"\u598a\u5a66\" class=\"wp-image-116103\"\/><\/figure><\/div>\n\n\n<p><\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"9_%E5%B0%8F%E7%BB%93%E8%87%B3%E6%AD%A4\"><\/span>9. \u5c0f\u7ed3\u81f3\u6b64<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>22q11.2 \u7f3a\u5931\u7efc\u5408\u75c7\uff08\u8fea\u4e54\u6cbb\u7efc\u5408\u75c7\uff09\u662f\u4e00\u79cd\u5177\u6709\u591a\u6837\u4e34\u5e8a\u8868\u73b0\u7684\u5fae\u5c0f\u7f3a\u5931\u6027\u75be\u75c5\uff0c\u4ea7\u524d\u8bca\u65ad\u4ef7\u503c\u6781\u9ad8\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> \u7684\u5f15\u5165\u53ef\u5b9e\u73b0\u901a\u8fc7\u6bcd\u4f53\u8840\u6db2\u8fdb\u884c\u65e0\u521b\u7b5b\u67e5\uff0c\u5bf9\u5b55\u5987\u548c\u533b\u52a1\u4eba\u5458\u5747\u6709\u52a9\u76ca\u3002<br>\u4e0d\u8fc7\uff0c\u8981\u5f3a\u8c03\u4ee5\u4e0b\u51e0\u70b9\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> \u53ef\u7528\u4e8e\u5bf9\u8fea\u4e54\u6cbb\u7efc\u5408\u75c7\u7684\u98ce\u9669\u8bc4\u4f30<\/li>\n\n\n\n<li>\u9633\u6027\u7ed3\u679c<strong>\u5fc5\u987b<\/strong>\u8fdb\u884c\u786e\u8bca<\/li>\n\n\n\n<li>\u5b55\u5987\u4e0e\u5bb6\u5ead\u9700\u8981\u5f97\u5230\u9057\u4f20\u54a8\u8be2\u652f\u6301<\/li>\n\n\n\n<li>\u9009\u62e9\u68c0\u6d4b\u673a\u6784\u4e0e\u786e\u8ba4\u68c0\u6d4b\u7cbe\u5ea6\u975e\u5e38\u5173\u952e<\/li>\n<\/ul>\n\n\n\n<p>\u5c55\u671b\u672a\u6765\uff0c\u968f\u7740\u9776\u5411\u5206\u6790\u4e0e\u6d4b\u5e8f\u6280\u672f\u7684\u8fdb\u6b65\uff0c\u5fae\u5c0f\u7f3a\u5931\u7b5b\u67e5\u7cbe\u5ea6\u6709\u671b\u8fdb\u4e00\u6b65\u63d0\u9ad8\uff0c\u68c0\u6d4b\u79cd\u7c7b\u4ea6\u53ef\u80fd\u6269\u5c55\u3002\u5b55\u5987\u3001\u5bb6\u5ead\u4e0e\u533b\u52a1\u4eba\u5458\u5171\u540c\u5171\u4eab\u4fe1\u606f\u3001\u505a\u51fa\u6070\u5f53\u51b3\u7b56\uff0c\u5c06\u662f\u5b9e\u73b0\u4ea7\u524d\u8bca\u65ad\u4ef7\u503c\u7684\u5173\u952e\u3002<\/p>\n\n\n\n<p><\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"10_%E8%BF%AA%E4%B9%94%E6%B2%BB%E7%BB%BC%E5%90%88%E7%97%87_NIPT_%E7%AD%9B%E6%9F%A5%E6%B5%81%E7%A8%8B\"><\/span>10. \u8fea\u4e54\u6cbb\u7efc\u5408\u75c7 NIPT \u7b5b\u67e5\u6d41\u7a0b<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ol class=\"wp-block-list\">\n<li>\u5b55\u5987\u540c\u610f\u4e0e\u9057\u4f20\u54a8\u8be2<br>\u5728\u8fdb\u884c <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> \u4e4b\u524d\uff0c\u533b\u52a1\u4eba\u5458\u9700\u63d0\u4f9b\u5145\u5206\u8bf4\u660e\u4e0e\u9057\u4f20\u54a8\u8be2\uff0c\u4f7f\u5b55\u5987\u7406\u89e3\u68c0\u6d4b\u76ee\u7684\u3001\u53ef\u68c0\u6d4b\u5f02\u5e38\u3001\u5c40\u9650\u53ca\u5047\u9633\u6027\uff0f\u5047\u9634\u6027\u7684\u53ef\u80fd\u6027\uff0c\u5e76\u53d6\u5f97\u77e5\u60c5\u540c\u610f\u3002<\/li>\n\n\n\n<li>\u91c7\u96c6\u6bcd\u4f53\u8840\u6db2<br>\u901a\u5e38\u5728\u598a\u5a20 10 \u5468\u4ee5\u540e\uff0c\u62bd\u53d6\u7ea6 10 mL \u8840\u6db2\u3002\u6bcd\u4f53\u8840\u6db2\u4e2d\u542b\u6709\u80ce\u513f\u6765\u6e90\u7684 cffDNA\u3002<\/li>\n\n\n\n<li>DNA \u63d0\u53d6\u4e0e\u5206\u6790<br>\u4ece\u91c7\u96c6\u7684\u8840\u6db2\u4e2d\u63d0\u53d6 cffDNA\uff0c\u4f7f\u7528 NGS \u6216\u9776\u5411\u6355\u83b7\u578b\u5206\u6790\u8bc4\u4f30 22q11.2 \u533a\u57df\u7684\u62f7\u8d1d\u6570\u3002<\/li>\n\n\n\n<li>\u7ed3\u679c\u5224\u5b9a\n<ul class=\"wp-block-list\">\n<li><strong>\u9634\u6027\uff08Low Risk\uff09\uff1a<\/strong> \u5224\u5b9a\u4e3a 22q11.2 \u7f3a\u5931\u98ce\u9669\u4f4e<\/li>\n\n\n\n<li><strong>\u9633\u6027\uff08High Risk\uff09\uff1a<\/strong> \u5224\u5b9a\u4e3a 22q11.2 \u7f3a\u5931\u98ce\u9669\u9ad8\uff0c\u5efa\u8bae\u8fdb\u884c\u786e\u8bca\u68c0\u6d4b\uff08\u7f8a\u6c34\u7a7f\u523a\u6216\u7ed2\u6bdb\u53d6\u6837\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>\u62a5\u544a\u4e0e\u540e\u7eed\u8ddf\u8fdb<br>\u6839\u636e\u7ed3\u679c\uff0c\u533b\u52a1\u4eba\u5458\u6216\u9057\u4f20\u987e\u95ee\u5411\u5b55\u5987\uff0f\u5bb6\u5ead\u8fdb\u884c\u8bf4\u660e\u3002\u82e5\u4e3a\u9633\u6027\uff0c\u5219\u5236\u5b9a\u51fa\u751f\u540e\u7ba1\u7406\u4e0e\u65e9\u671f\u5e72\u9884\u8ba1\u5212\u3002<\/li>\n<\/ol>\n\n\n\n<p><\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"11_%E9%80%89%E6%8B%A9%E5%8C%BB%E7%96%97%E6%9C%BA%E6%9E%84%E7%9A%84%E8%A6%81%E7%82%B9\"><\/span>11. \u9009\u62e9\u533b\u7597\u673a\u6784\u7684\u8981\u70b9<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u56e0\u4e3a\u8fea\u4e54\u6cbb\u7efc\u5408\u75c7 <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> \u5bf9\u5206\u6790\u8981\u6c42\u8f83\u9ad8\uff0c\u5efa\u8bae\u9009\u62e9\u5177\u5907\u4ee5\u4e0b\u6761\u4ef6\u7684\u673a\u6784\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5177\u5907\u7ecf\u9a8c\u4e30\u5bcc\u7684\u9057\u4f20\u54a8\u8be2\u56e2\u961f<\/li>\n\n\n\n<li>\u63d0\u4f9b\u9488\u5bf9\u5fae\u5c0f\u7f3a\u5931\u7684 <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> \u68c0\u6d4b\u9879\u76ee<\/li>\n\n\n\n<li>\u80fd\u8fc5\u901f\u8fdb\u884c\u786e\u8bca\u68c0\u6d4b\uff08\u5982\u7f8a\u6c34\u7a7f\u523a\u3001\u7ed2\u6bdb\u53d6\u6837\uff09<\/li>\n\n\n\n<li>\u6709\u516c\u5f00\u7684\u68c0\u6d4b\u7cbe\u5ea6\u4e0e\u5b9e\u9645\u6210\u7ee9<\/li>\n\n\n\n<li>\u4e3a\u5b55\u5987\u63d0\u4f9b\u4fe1\u8d56\u611f\u5e76\u51cf\u8f7b\u5176\u4e0d\u5b89\u60c5\u7eea<\/li>\n<\/ul>\n\n\n\n<p>\u5728\u53ef\u9760\u7684\u673a\u6784\u505a\u68c0\u6d4b\uff0c\u80fd\u66f4\u597d\u5730\u652f\u6301\u5b55\u5987\u7684\u51b3\u7b56\u4e0e\u5fc3\u7406\u5e73\u7a33\u3002<\/p>\n\n\n\n<p><\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"12_%E9%81%97%E4%BC%A0%E5%92%A8%E8%AF%A2%E7%9A%84%E9%87%8D%E8%A6%81%E6%80%A7\"><\/span>12. \u9057\u4f20\u54a8\u8be2\u7684\u91cd\u8981\u6027<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u8fea\u4e54\u6cbb\u7efc\u5408\u75c7 <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> \u7684\u7ed3\u679c\uff0c\u4ec5\u4f5c\u4e3a\u98ce\u9669\u63d0\u793a\u3002\u5bf9\u5b55\u5987\u4e0e\u5bb6\u5ead\u800c\u8a00\uff0c\u6700\u91cd\u8981\u7684\u662f\u6b63\u786e\u7406\u89e3\u68c0\u6d4b\u7ed3\u679c\u7684\u610f\u4e49\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u9633\u6027\u7ed3\u679c<\/strong>\uff1a\u9700\u4e86\u89e3\u786e\u8bca\u6d41\u7a0b\u3001\u51fa\u751f\u540e\u533b\u7597\uff0f\u6559\u80b2\u652f\u6301\u3001\u65e5\u5e38\u751f\u6d3b\u5b89\u6392\u7b49<\/li>\n\n\n\n<li><strong>\u9634\u6027\u7ed3\u679c<\/strong>\uff1a\u867d\u7136\u63d0\u793a\u98ce\u9669\u8f83\u4f4e\uff0c\u4f46\u4e0d\u4ee3\u8868\u6240\u6709\u5f02\u5e38\u90fd\u5df2\u6392\u9664<\/li>\n\n\n\n<li><strong>\u5fc3\u7406\u652f\u6301<\/strong>\uff1a\u7b5b\u67e5\u68c0\u6d4b\u53ef\u80fd\u7ed9\u5b55\u5987\u5e26\u6765\u5fc3\u7406\u8d1f\u62c5\uff0c\u6545\u5e94\u6709\u533b\u7597\u4eba\u5458\u6216\u54a8\u8be2\u5e08\u63d0\u4f9b\u652f\u6301<\/li>\n<\/ul>\n\n\n\n<p><\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"13_%E6%9C%AA%E6%9D%A5%E5%B1%95%E6%9C%9B\"><\/span>13. \u672a\u6765\u5c55\u671b<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u968f\u7740\u6280\u672f\u4e0e\u7814\u7a76\u7684\u53d1\u5c55\uff0c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> \u5728\u4ee5\u4e0b\u51e0\u4e2a\u65b9\u5411\u5177\u5907\u63d0\u5347\u7a7a\u95f4\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5fae\u5c0f\u7f3a\u5931 \/ \u91cd\u590d\u68c0\u6d4b\u7cbe\u5ea6\u63d0\u5347<\/strong><br>\u501f\u52a9\u66f4\u9ad8\u6d4b\u5e8f\u6df1\u5ea6\u4e0e\u66f4\u5148\u8fdb\u7b97\u6cd5\uff0c\u672a\u6765\u53ef\u80fd\u68c0\u6d4b\u66f4\u5c0f\u7684\u7f3a\u5931\u533a\u57df\u3002<\/li>\n\n\n\n<li><strong>\u591a\u75be\u75c5\u7b5b\u67e5<\/strong><br>\u9664\u8fea\u4e54\u6cbb\u7efc\u5408\u75c7\u4e4b\u5916\uff0c\u7814\u7a76\u6b63\u5411 <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/1p-36-deletion-syndrome\/\">1p36<\/a> \u7f3a\u5931\u7efc\u5408\u75c7\u3001Cri\u2011du\u2011chat \u7efc\u5408\u75c7\u7b49\u5176\u4ed6\u5fae\u5c0f\u7f3a\u5931\u7efc\u5408\u75c7\u6269\u5c55\u3002<\/li>\n\n\n\n<li><strong>\u4e34\u5e8a\u6807\u51c6\u5316\u4e0e\u666e\u53ca<\/strong><br>\u968f\u7740\u5bf9\u5b55\u5987\u7fa4\u4f53\u7684\u666e\u53ca\u53ca\u56fd\u9645\u6027\u6307\u5357\u7684\u5efa\u7acb\uff0c\u68c0\u6d4b\u7684\u7cbe\u5ea6\u4e0e\u5b89\u5168\u6027\u6709\u671b\u517c\u987e\u3002<\/li>\n\n\n\n<li><strong>\u4e0e\u51fa\u751f\u540e\u533b\u7597\u4f53\u7cfb\u8054\u52a8<\/strong><br>\u5728\u5fc3\u810f\u75c5\u3001\u514d\u75ab\u529f\u80fd\u5f02\u5e38\u7b49\u65b9\u9762\uff0c\u5c06\u4ea7\u524d\u8bca\u65ad\u4e0e\u51fa\u751f\u540e\u6cbb\u7597\u4e0e\u7ba1\u7406\u4f53\u7cfb\u6574\u5408\u3002<\/li>\n<\/ul>\n\n\n\n<p><\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"14_%E7%BB%93%E8%AF%AD\"><\/span>14. \u7ed3\u8bed<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>22q11.2 \u7f3a\u5931\u7efc\u5408\u75c7\uff08\u8fea\u4e54\u6cbb\u7efc\u5408\u75c7\uff09\u662f\u4e00\u79cd\u6781\u9700\u4ea7\u524d\u8bca\u65ad\u652f\u6301\u7684\u5fae\u5c0f\u7f3a\u5931\u75be\u75c5\u3002\u901a\u8fc7 <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>\uff0c\u53ef\u4ee5\u5728\u65e0\u521b\u6761\u4ef6\u4e0b\u5bf9\u5176\u98ce\u9669\u8fdb\u884c\u8bc4\u4f30\uff0c\u4e3a\u5b55\u5987\u3001\u5bb6\u5ead\u548c\u533b\u52a1\u4eba\u5458\u5e26\u6765\u8bf8\u591a\u52a9\u76ca\u3002<br>\u4f46\u5fc5\u987b\u7262\u8bb0\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> \u662f\u7b5b\u67e5\u5de5\u5177\uff0c\u4e0d\u662f\u786e\u8bca<\/li>\n\n\n\n<li>\u9633\u6027\u7ed3\u679c\u5fc5\u987b\u8fdb\u884c\u786e\u8bca\u68c0\u6d4b<\/li>\n\n\n\n<li>\u9057\u4f20\u54a8\u8be2\u652f\u6301\u4e0e\u68c0\u6d4b\u673a\u6784\u9009\u62e9\u975e\u5e38\u5173\u952e<\/li>\n\n\n\n<li>\u968f\u7740\u6280\u672f\u8fdb\u6b65\uff0c\u68c0\u6d4b\u7cbe\u5ea6\u4e0e\u75be\u75c5\u8986\u76d6\u8303\u56f4\u6709\u671b\u4e0d\u65ad\u6269\u5c55<\/li>\n<\/ul>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> \u53ef\u4f5c\u4e3a\u5b55\u5987\u4e0e\u533b\u52a1\u4eba\u5458\u5171\u540c\u51b3\u7b56\u7684\u6709\u529b\u5de5\u5177\uff0c\u6709\u671b\u5728\u672a\u6765\u6210\u4e3a\u598a\u5a20\u7ba1\u7406\u7684\u65b0\u6807\u51c6\u3002<\/p>\n\n\n\n<p><\/p>\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\"><\/span>\u53c2\u8003\u6587\u732e<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>McDonald\u2011McGinn DM, \u7b49. \u201c22q11.2 deletion syndrome.\u201d <em>Nat Rev Dis Primers<\/em>. 2015;1:15071.<\/li>\n\n\n\n<li>Bassett AS, \u7b49. \u201cClinical features of 22q11.2 deletion syndrome.\u201d <em>J Med Genet<\/em>. 2011;48:131\u2013142.<\/li>\n\n\n\n<li>Shprintzen RJ. \u201cVelo\u2011cardio\u2011facial syndrome: 30 years of study.\u201d <em>Dev Disabil Res Rev<\/em>. 2008;14:3\u201310.<\/li>\n\n\n\n<li>Wapner RJ, \u7b49. \u201cNoninvasive prenatal screening for microdeletions.\u201d <em>Genet Med<\/em>. 2015;17:837\u2013842.<\/li>\n\n\n\n<li>Petersen AK, \u7b49. \u201cDetection of 22q11.2 deletions in maternal plasma.\u201d <em>Prenat Diagn<\/em>. 2017;37:136\u2013142.<\/li>\n\n\n\n<li>ACOG Practice Bulletin No. 226. \u201cScreening for Fetal Chromosomal Abnormalities.\u201d <em>Obstet Gynecol<\/em>. 2021;137:e59\u2013e81.<\/li>\n\n\n\n<li>Petersen AK, \u7b49. \u201cClinical experience with noninvasive prenatal screening for 22q11.2 deletion syndrome.\u201d <em>Prenat Diagn<\/em>. 2017;37:136\u2013142.<\/li>\n\n\n\n<li>Wapner RJ, \u7b49. \u201cNoninvasive prenatal screening for fetal microdeletions: review and future perspectives.\u201d <em>Prenat Diagn<\/em>. 2015;35:1067\u20131078.<\/li>\n\n\n\n<li>Hill M, \u7b49. \u201cNon\u2011invasive prenatal testing for 22q11.2 deletion syndrome: detection rates and limitations.\u201d <em>Prenat Diagn<\/em>. 2020;40:323\u2013330.<\/li>\n<\/ul>\n\n\n\n<p><\/p>\n","protected":false},"excerpt":{"rendered":"1. \u5f15\u8a00 22q11.2 \u7f3a\u5931\u7efc\u5408\u75c7\uff08&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-22q11-deletion\/?lang=zh-hans\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":122,"featured_media":116100,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[14],"tags":[],"class_list":["post-116109","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-other-zh-hans"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/116109","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/users\/122"}],"replies":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/comments?post=116109"}],"version-history":[{"count":2,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/116109\/revisions"}],"predecessor-version":[{"id":116117,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/116109\/revisions\/116117"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/116100"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=116109"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=116109"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=116109"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}