{"id":116550,"date":"2025-09-25T16:54:25","date_gmt":"2025-09-25T07:54:25","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-22q11-2-deletion-syndrome\/"},"modified":"2025-09-25T17:00:22","modified_gmt":"2025-09-25T08:00:22","slug":"nipt-22q11-2-deletion-syndrome","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-22q11-2-deletion-syndrome\/?lang=zh-hans","title":{"rendered":"\u4ec0\u4e48\u662f22q11.2\u7f3a\u5931\u7efc\u5408\u5f81\uff1f\u63a2\u8ba8\u5176\u4e0e\u667a\u529b\u969c\u788d\u7684\u5173\u7cfb"},"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-22q11-2-deletion-syndrome\/?lang=zh-hans\/#1_%E5%BC%95%E8%A8%80%EF%BC%9A%E4%BB%80%E4%B9%88%E6%98%AF22q112%E7%BC%BA%E5%A4%B1%E7%BB%BC%E5%90%88%E5%BE%81\" >1. \u5f15\u8a00\uff1a\u4ec0\u4e48\u662f22q11.2\u7f3a\u5931\u7efc\u5408\u5f81<\/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-22q11-2-deletion-syndrome\/?lang=zh-hans\/#2_%E4%B8%BB%E8%A6%81%E7%97%87%E7%8A%B6%E4%B8%8E%E4%B8%B4%E5%BA%8A%E8%A1%A8%E7%8E%B0\" >2. \u4e3b\u8981\u75c7\u72b6\u4e0e\u4e34\u5e8a\u8868\u73b0<\/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-22q11-2-deletion-syndrome\/?lang=zh-hans\/#3_22q112%E7%BC%BA%E5%A4%B1%E7%BB%BC%E5%90%88%E5%BE%81%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. 22q11.2\u7f3a\u5931\u7efc\u5408\u5f81\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\/nipt-22q11-2-deletion-syndrome\/?lang=zh-hans\/#4_NIPT%E7%9A%84%E4%BD%9C%E7%94%A8%E4%B8%8E%E5%B1%80%E9%99%90\" >4. NIPT\u7684\u4f5c\u7528\u4e0e\u5c40\u9650<\/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\/nipt-22q11-2-deletion-syndrome\/?lang=zh-hans\/#5_%E7%A1%AE%E8%AF%8A%E4%B8%8E%E9%81%97%E4%BC%A0%E5%92%A8%E8%AF%A2%E7%9A%84%E9%87%8D%E8%A6%81%E6%80%A7\" >5. \u786e\u8bca\u4e0e\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-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-22q11-2-deletion-syndrome\/?lang=zh-hans\/#6_%E5%AF%B9%E5%AE%B6%E5%BA%AD%E4%B8%8E%E7%A4%BE%E4%BC%9A%E7%9A%84%E5%BD%B1%E5%93%8D%E5%8F%8A%E6%94%AF%E6%8C%81\" >6. \u5bf9\u5bb6\u5ead\u4e0e\u793e\u4f1a\u7684\u5f71\u54cd\u53ca\u652f\u6301<\/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\/nipt-22q11-2-deletion-syndrome\/?lang=zh-hans\/#7_%E5%B0%8F%E7%BB%93\" >7. \u5c0f\u7ed3<\/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-22q11-2-deletion-syndrome\/?lang=zh-hans\/#8_22q112%E7%BC%BA%E5%A4%B1%E7%BB%BC%E5%90%88%E5%BE%81%E5%9C%A8%E4%BA%A7%E5%89%8D%E8%AF%8A%E6%96%AD%E4%B8%AD%E7%9A%84%E6%84%8F%E4%B9%89\" >8. 22q11.2\u7f3a\u5931\u7efc\u5408\u5f81\u5728\u4ea7\u524d\u8bca\u65ad\u4e2d\u7684\u610f\u4e49<\/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\/nipt-22q11-2-deletion-syndrome\/?lang=zh-hans\/#9_%E5%A6%8A%E5%A8%A0%E6%9C%9F%E7%9A%84%E5%86%B3%E7%AD%96%E4%B8%8E%E5%BF%83%E7%90%86%E5%BD%B1%E5%93%8D\" >9. \u598a\u5a20\u671f\u7684\u51b3\u7b56\u4e0e\u5fc3\u7406\u5f71\u54cd<\/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\/nipt-22q11-2-deletion-syndrome\/?lang=zh-hans\/#10_%E7%A4%BE%E4%BC%9A%E4%B8%8E%E4%BC%A6%E7%90%86%E9%97%AE%E9%A2%98\" >10. \u793e\u4f1a\u4e0e\u4f26\u7406\u95ee\u9898<\/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\/nipt-22q11-2-deletion-syndrome\/?lang=zh-hans\/#11_%E6%9C%AA%E6%9D%A5%E7%A0%94%E7%A9%B6%E4%B8%8E%E5%8C%BB%E7%96%97%E5%B1%95%E6%9C%9B\" >11. \u672a\u6765\u7814\u7a76\u4e0e\u533b\u7597\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\/nipt-22q11-2-deletion-syndrome\/?lang=zh-hans\/#12_%E6%80%BB%E7%BB%93\" >12. \u603b\u7ed3<\/a><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E5%BC%95%E8%A8%80%EF%BC%9A%E4%BB%80%E4%B9%88%E6%98%AF22q112%E7%BC%BA%E5%A4%B1%E7%BB%BC%E5%90%88%E5%BE%81\"><\/span>1. \u5f15\u8a00\uff1a\u4ec0\u4e48\u662f22q11.2\u7f3a\u5931\u7efc\u5408\u5f81<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>22q11.2\u7f3a\u5931\u7efc\u5408\u5f81\uff0822q11.2 deletion syndrome\uff09\u662f\u4e00\u79cd\u5148\u5929\u6027\u75be\u75c5\uff0c\u7531\u7b2c22\u53f7\u67d3\u8272\u4f53\u957f\u81c2\uff08q\uff0911.2\u533a\u57df\u7684\u90e8\u5206\u7f3a\u5931\u5f15\u8d77\u3002<br>\u8fc7\u53bb\u66fe\u88ab\u79f0\u4e3a <strong>DiGeorge\u7efc\u5408\u5f81<\/strong> \u6216 <strong>\u816d\u5fc3\u9762\u7efc\u5408\u5f81\uff08Velocardiofacial Syndrome, VCFS\uff09<\/strong>\uff0c\u73b0\u591a\u4ee5\u201c22q11.2\u7f3a\u5931\u7efc\u5408\u5f81\u201d\u4f5c\u4e3a\u603b\u79f0\u3002<\/p>\n\n\n\n<p>\u5176\u4e34\u5e8a\u8868\u73b0\u591a\u6837\uff0c\u5305\u62ec\u53d1\u80b2\u969c\u788d\u3001\u667a\u529b\u969c\u788d\u3001\u5148\u5929\u6027\u5fc3\u810f\u75c5\u3001\u514d\u75ab\u7f3a\u9677\u4ee5\u53ca\u7cbe\u795e\u75be\u75c5\u98ce\u9669\u7b49\u3002<br>\u53d1\u75c5\u7387\u7ea6\u4e3a <strong>1\/4000<\/strong>\uff0c\u867d\u8f83\u5510\u6c0f\u7efc\u5408\u5f81\u7b49\u4e09\u5927\u67d3\u8272\u4f53\u4e09\u4f53\u5c11\u89c1\uff0c\u4f46\u5728\u5fae\u7f3a\u5931\u7efc\u5408\u5f81\u4e2d\u5c5e\u4e8e\u8f83\u5e38\u89c1\u7c7b\u578b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E4%B8%BB%E8%A6%81%E7%97%87%E7%8A%B6%E4%B8%8E%E4%B8%B4%E5%BA%8A%E8%A1%A8%E7%8E%B0\"><\/span>2. \u4e3b\u8981\u75c7\u72b6\u4e0e\u4e34\u5e8a\u8868\u73b0<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>22q11.2\u7f3a\u5931\u7efc\u5408\u5f81\u7684\u75c7\u72b6\u5341\u5206\u5e7f\u6cdb\uff0c\u5305\u62ec\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u667a\u529b\u969c\u788d\u4e0e\u5b66\u4e60\u969c\u788d<\/strong><br>\u2002IQ\u591a\u572850\u301c70\u4e4b\u95f4\uff0c\u5373\u8f7b\u5ea6\u81f3\u4e2d\u5ea6\u667a\u529b\u969c\u788d<br>\u2002\u90e8\u5206\u5408\u5e76\u6ce8\u610f\u7f3a\u9677\u591a\u52a8\u969c\u788d\uff08<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/adhd-genetics-symptoms-support\/\">ADHD<\/a>\uff09\u6216\u5b66\u4e60\u969c\u788d\uff08<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/learning-disabilities-genetics-support\/\">LD<\/a>\uff09<\/li>\n\n\n\n<li><strong>\u53d1\u80b2\u969c\u788d\u4e0e\u7cbe\u795e\u75be\u75c5\u98ce\u9669<\/strong><br>\u2002\u8868\u73b0\u51fa\u81ea\u95ed\u75c7\u8c31\u7cfb\u969c\u788d\uff08ASD\uff09\u6837\u7684\u793e\u4f1a\u6027\u4e0e\u6c9f\u901a\u7279\u5f81<br>\u2002\u9752\u6625\u671f\u540e\u60a3\u7cbe\u795e\u5206\u88c2\u75c7\u7684\u98ce\u9669\u9ad8\u4e8e\u666e\u901a\u4eba\u7fa4<\/li>\n\n\n\n<li><strong>\u5148\u5929\u6027\u5fc3\u810f\u75c5<\/strong><br>\u2002\u5982\u6cd5\u6d1b\u56db\u8054\u75c7\u3001\u5927\u52a8\u8109\u5f13\u5f02\u5e38\u7b49\u590d\u6742\u5fc3\u810f\u7578\u5f62<\/li>\n\n\n\n<li><strong>\u514d\u75ab\u53ca\u5185\u5206\u6ccc\u5f02\u5e38<\/strong><br>\u2002\u80f8\u817a\u53d1\u80b2\u4e0d\u5168\u5bfc\u81f4\u7684\u7ec6\u80de\u514d\u75ab\u7f3a\u9677<br>\u2002\u4f4e\u9499\u8840\u75c7\u5f15\u8d77\u7684\u60ca\u53a5<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_22q112%E7%BC%BA%E5%A4%B1%E7%BB%BC%E5%90%88%E5%BE%81%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. 22q11.2\u7f3a\u5931\u7efc\u5408\u5f81\u4e0e\u667a\u529b\u969c\u788d\u7684\u5173\u7cfb<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u7ea6 <strong>70% \u7684\u60a3\u8005<\/strong> \u4f1a\u8868\u73b0\u51fa\u8f7b\u5ea6\u81f3\u4e2d\u5ea6\u667a\u529b\u969c\u788d\u6216\u53d1\u80b2\u8fdf\u7f13\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8f7b\u5ea6\u667a\u529b\u969c\u788d\uff08IQ 50\u201369\uff09<\/strong><br>\u2002\u9700\u6559\u80b2\u652f\u6301\uff0c\u4f46\u90e8\u5206\u60a3\u8005\u53ef\u57fa\u672c\u72ec\u7acb\u751f\u6d3b\u3002<\/li>\n\n\n\n<li><strong>\u4e2d\u5ea6\u667a\u529b\u969c\u788d\uff08IQ 35\u201349\uff09<\/strong><br>\u2002\u591a\u6570\u9700\u957f\u671f\u65e5\u5e38\u751f\u6d3b\u652f\u6301\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u6b64\u5916\uff0c\u672c\u75c5\u5e38\u4f34\u968f <strong>\u8bed\u8a00\u53d1\u80b2\u8fdf\u7f13<\/strong>\uff0c\u90e8\u5206\u60a3\u8005\u56e0\u6784\u97f3\u969c\u788d\u6216\u816d\u54bd\u95ed\u5408\u4e0d\u5168\u800c\u8bed\u8a00\u4e0d\u6e05\u3002<br>\u65e9\u671f\u53d1\u80b2\u5e72\u9884\u548c\u7279\u6b8a\u6559\u80b2\u53ef\u663e\u8457\u6539\u5584\u5b66\u4e60\u548c\u793e\u4f1a\u9002\u5e94\u80fd\u529b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_NIPT%E7%9A%84%E4%BD%9C%E7%94%A8%E4%B8%8E%E5%B1%80%E9%99%90\"><\/span>4. NIPT\u7684\u4f5c\u7528\u4e0e\u5c40\u9650<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>\uff08\u65e0\u521b\u4ea7\u524d\u68c0\u6d4b\uff09<\/strong> \u901a\u8fc7\u5206\u6790\u5b55\u5987\u8840\u6db2\u4e2d\u7684\u80ce\u513f\u6e38\u79bbDNA\u6765\u7b5b\u67e5\u67d3\u8272\u4f53\u5f02\u5e38\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4f20\u7edfNIPT\u53ef\u68c0\u6d4b\uff1a<\/strong><br>\u200221\u4e09\u4f53\uff08\u5510\u6c0f\u7efc\u5408\u5f81\uff09<br>\u200218\u4e09\u4f53\uff08\u7231\u5fb7\u534e\u5179\u7efc\u5408\u5f81\uff09<br>\u200213\u4e09\u4f53\uff08\u5e15\u9676\u7efc\u5408\u5f81\uff09<\/li>\n\n\n\n<li><strong>\u65b0\u578bNIPT\u7684\u6269\u5c55\uff1a<\/strong><br>\u2002\u90e8\u5206\u9879\u76ee\u53ef\u7b5b\u67e5 <strong>\u5fae\u7f3a\u5931\u7efc\u5408\u5f81<\/strong>\uff0c\u5305\u62ec22q11.2\u7f3a\u5931\u7efc\u5408\u5f81<\/li>\n<\/ul>\n\n\n\n<p><strong>NIPT\u80fd\u53d1\u73b0\u7684\uff1a<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>22q11.2\u7f3a\u5931\u7efc\u5408\u5f81\u7b49\u90e8\u5206\u5fae\u7f3a\u5931\u7efc\u5408\u5f81\u7684\u98ce\u9669<\/li>\n\n\n\n<li>\u4e09\u5927\u67d3\u8272\u4f53\u4e09\u4f53<\/li>\n<\/ul>\n\n\n\n<p><strong>NIPT\u4e0d\u80fd\u53d1\u73b0\u7684\uff1a<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u65e0\u5fae\u7f3a\u5931\u7684\u81ea\u95ed\u75c7\u3001ADHD\u7b49\u53d1\u80b2\u969c\u788d<\/li>\n\n\n\n<li>\u786e\u8bca\uff08\u9633\u6027\u7ed3\u679c\u9700\u8fdb\u4e00\u6b65\u7f8a\u6c34\u7a7f\u523a\u6216\u57fa\u56e0\u68c0\u6d4b\u786e\u8ba4\uff09<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"5_%E7%A1%AE%E8%AF%8A%E4%B8%8E%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>5. \u786e\u8bca\u4e0e\u9057\u4f20\u54a8\u8be2\u7684\u91cd\u8981\u6027<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u82e5NIPT\u63d0\u793a\u9633\u6027\uff0c\u9700\u8981\u8fdb\u4e00\u6b65\u8fdb\u884c\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u7f8a\u6c34\u7a7f\u523a<\/li>\n\n\n\n<li>FISH\u68c0\u6d4b\u3001CGH\u82af\u7247\u7b49\u57fa\u56e0\u5b66\u786e\u8bca<\/li>\n<\/ul>\n\n\n\n<p><strong>\u9057\u4f20\u54a8\u8be2\u7684\u5fc5\u8981\u6027\uff1a<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u89e3\u91ca\u4e34\u5e8a\u8868\u73b0\u53ca\u672a\u6765\u53ef\u80fd\u6027<\/li>\n\n\n\n<li>\u63d0\u524d\u89c4\u5212\u533b\u7597\u4e0e\u6559\u80b2\u652f\u6301<\/li>\n\n\n\n<li>\u534f\u52a9\u5bb6\u5ead\u8ba1\u5212\u53ca\u5fc3\u7406\u652f\u6301<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"6_%E5%AF%B9%E5%AE%B6%E5%BA%AD%E4%B8%8E%E7%A4%BE%E4%BC%9A%E7%9A%84%E5%BD%B1%E5%93%8D%E5%8F%8A%E6%94%AF%E6%8C%81\"><\/span>6. \u5bf9\u5bb6\u5ead\u4e0e\u793e\u4f1a\u7684\u5f71\u54cd\u53ca\u652f\u6301<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u60a3\u513f\u5f80\u5f80\u81ea\u51fa\u751f\u8d77\u5373\u9700\u8981\u533b\u7597\u5e72\u9884\uff0c\u5bb6\u5ead\u9700\u957f\u671f\u652f\u6301\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u533b\u7597\u652f\u6301<\/strong><br>\u2002\u5fc3\u810f\u79d1\u3001\u514d\u75ab\u79d1\u3001\u5185\u5206\u6ccc\u79d1\u7b49\u591a\u5b66\u79d1\u534f\u4f5c<\/li>\n\n\n\n<li><strong>\u6559\u80b2\u4e0e\u53d1\u80b2\u652f\u6301<\/strong><br>\u2002\u65e9\u671f\u5eb7\u590d\u5e72\u9884<br>\u2002\u7279\u6b8a\u6559\u80b2\u8d44\u6e90<\/li>\n\n\n\n<li><strong>\u5fc3\u7406\u4e0e\u793e\u4f1a\u652f\u6301<\/strong><br>\u2002\u5bb6\u957f\u4e92\u52a9\u4f1a\u3001\u60a3\u8005\u7ec4\u7ec7<br>\u2002\u793e\u4f1a\u4fdd\u969c\uff08\u5eb7\u590d\u624b\u518c\u3001\u7279\u6b8a\u513f\u7ae5\u629a\u517b\u8865\u8d34\u7b49\uff09<\/li>\n<\/ul>\n\n\n\n<p>\u8fd9\u4e9b\u63aa\u65bd\u6709\u52a9\u4e8e\u63d0\u5347\u60a3\u8005\u53ca\u5bb6\u5ead\u7684\u751f\u6d3b\u8d28\u91cf\uff08QOL\uff09\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"7_%E5%B0%8F%E7%BB%93\"><\/span>7. \u5c0f\u7ed3<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>22q11.2\u7f3a\u5931\u7efc\u5408\u5f81\u5e38\u4f34\u667a\u529b\u969c\u788d\u3001\u53d1\u80b2\u969c\u788d\u53ca\u5fc3\u810f\u75c5<\/li>\n\n\n\n<li>NIPT\u53ef\u5e2e\u52a9\u5b55\u671f\u53d1\u73b0\u98ce\u9669\uff0c\u4f46\u786e\u8bca\u4ecd\u9700\u7f8a\u6c34\u7a7f\u523a\u7b49\u68c0\u67e5<\/li>\n\n\n\n<li>\u5bb6\u5ead\u4e0e\u793e\u4f1a\u652f\u6301\u4f53\u7cfb\u7684\u65e9\u671f\u5efa\u7acb\u81f3\u5173\u91cd\u8981<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"8_22q112%E7%BC%BA%E5%A4%B1%E7%BB%BC%E5%90%88%E5%BE%81%E5%9C%A8%E4%BA%A7%E5%89%8D%E8%AF%8A%E6%96%AD%E4%B8%AD%E7%9A%84%E6%84%8F%E4%B9%89\"><\/span>8. 22q11.2\u7f3a\u5931\u7efc\u5408\u5f81\u5728\u4ea7\u524d\u8bca\u65ad\u4e2d\u7684\u610f\u4e49<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u8fc7\u53bb\u591a\u5728\u51fa\u751f\u540e\u624d\u786e\u8bca\uff0c\u4f46\u5982\u4eca\u901a\u8fc7NIPT\uff0c\u5b55\u65e9\u671f\u5373\u53ef\u83b7\u77e5\u98ce\u9669\u3002<\/p>\n\n\n\n<p><strong>\u4e3b\u8981\u4f18\u52bf\uff1a<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u51fa\u751f\u540e\u7acb\u5373\u8fdb\u884c\u5fc5\u8981\u7684\u533b\u7597\u5e72\u9884\uff08\u5982\u5fc3\u810f\u624b\u672f\u3001\u514d\u75ab\u6cbb\u7597\uff09<\/li>\n\n\n\n<li>\u53ef\u63d0\u524d\u89c4\u5212NICU\u5165\u4f4f\u53ca\u624b\u672f\u51c6\u5907<\/li>\n\n\n\n<li>\u4e3a\u5bb6\u5ead\u5fc3\u7406\u51c6\u5907\u4e0e\u5e72\u9884\u8ba1\u5212\u7559\u51fa\u65f6\u95f4<\/li>\n\n\n\n<li>\u5b9e\u73b0\u591a\u5b66\u79d1\u534f\u4f5c\u7684\u65e9\u671f\u4ecb\u5165<\/li>\n<\/ul>\n\n\n\n<p>\u9700\u6ce8\u610f\uff1a\u75c7\u72b6\u4e25\u91cd\u7a0b\u5ea6\u5728\u4ea7\u524d\u4ecd\u96be\u4ee5\u51c6\u786e\u9884\u6d4b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"9_%E5%A6%8A%E5%A8%A0%E6%9C%9F%E7%9A%84%E5%86%B3%E7%AD%96%E4%B8%8E%E5%BF%83%E7%90%86%E5%BD%B1%E5%93%8D\"><\/span>9. \u598a\u5a20\u671f\u7684\u51b3\u7b56\u4e0e\u5fc3\u7406\u5f71\u54cd<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5fc3\u7406\u538b\u529b\u4e0e\u77db\u76fe<\/strong><br>\u2002\u201c\u6211\u80fd\u5426\u629a\u517b\u6709\u969c\u788d\u7684\u5b69\u5b50\uff1f\u201d<br>\u2002\u662f\u5426\u7ee7\u7eed\u598a\u5a20\u7684\u8270\u96be\u9009\u62e9<\/li>\n\n\n\n<li><strong>\u5bb6\u5ead\u610f\u89c1\u5206\u6b67<\/strong><br>\u2002\u914d\u5076\u4e0e\u7956\u8f88\u53ef\u80fd\u5728\u4ef7\u503c\u89c2\u4e0a\u5b58\u5728\u5dee\u5f02<\/li>\n\n\n\n<li><strong>\u5fc3\u7406\u652f\u6301\u9700\u6c42<\/strong><br>\u2002\u4e34\u5e8a\u5fc3\u7406\u5e08\u4e0e\u9057\u4f20\u54a8\u8be2\u7684\u4ecb\u5165\u6781\u4e3a\u91cd\u8981<br>\u2002\u5fc5\u8981\u65f6\u53ef\u5229\u7528\u5bb6\u957f\u4e92\u52a9\u4f1a\u63d0\u4f9b\u7684\u4fe1\u606f\u652f\u6301<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"10_%E7%A4%BE%E4%BC%9A%E4%B8%8E%E4%BC%A6%E7%90%86%E9%97%AE%E9%A2%98\"><\/span>10. \u793e\u4f1a\u4e0e\u4f26\u7406\u95ee\u9898<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u793e\u4f1a\u5bf9\u6b8b\u969c\u7684\u8ba4\u77e5\u4e0d\u8db3<\/strong><br>\u2002\u4ea7\u524d\u8bca\u65ad\u63a8\u5e7f\u9700\u4f34\u968f\u793e\u4f1a\u652f\u6301\u4e0e\u6b8b\u969c\u8005\u6743\u76ca\u4fdd\u969c<\/p>\n\n\n\n<p><strong>\u9009\u62e9\u6027\u6d41\u4ea7\u4e89\u8bae<\/strong><br>\u2002\u8bca\u65ad\u540e\u598a\u5a20\u53bb\u7559\u7684\u51b3\u7b56\u6d89\u53ca\u4f26\u7406\u6311\u6218<br>\u2002\u65e5\u672c\u5987\u4ea7\u79d1\u5b66\u4f1a\u8981\u6c42\u5fc5\u987b\u63d0\u4f9b\u5145\u5206\u7684\u9057\u4f20\u54a8\u8be2<\/p>\n\n\n\n<p><strong>\u4fe1\u606f\u4e0d\u5bf9\u79f0<\/strong><br>\u2002\u533b\u60a3\u95f4\u7406\u89e3\u5dee\u5f02\u53ef\u80fd\u5bfc\u81f4\u7126\u8651\u6216\u8bef\u89e3<\/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\/23630468_s.webp\" alt=\"\u30cf\u30fc\u30c8\" class=\"wp-image-116545\"\/><\/figure><\/div>\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"11_%E6%9C%AA%E6%9D%A5%E7%A0%94%E7%A9%B6%E4%B8%8E%E5%8C%BB%E7%96%97%E5%B1%95%E6%9C%9B\"><\/span>11. \u672a\u6765\u7814\u7a76\u4e0e\u533b\u7597\u5c55\u671b<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u57fa\u56e0\u7ec4\u5b66\u8fdb\u5c55<\/strong><br>\u2002\u63d0\u9ad8\u5fae\u7f3a\u5931\/\u5fae\u91cd\u590d\u7b5b\u67e5\u7cbe\u5ea6<br>\u2002\u53ef\u80fd\u63d0\u5347\u7cbe\u795e\u75be\u75c5\u98ce\u9669\u9884\u6d4b<\/li>\n\n\n\n<li><strong>\u65e9\u671f\u5e72\u9884\u4e0e\u4e2a\u4f53\u5316\u652f\u6301<\/strong><br>\u2002\u5a74\u513f\u671f\u7684\u5eb7\u590d\u53ef\u6539\u5584\u8bed\u8a00\u4e0e\u793e\u4ea4\u80fd\u529b<br>\u2002\u63a8\u52a8\u201c\u5168\u751f\u547d\u5468\u671f\u652f\u6301\u6a21\u5f0f\u201d\u7684\u5efa\u7acb<\/li>\n\n\n\n<li><strong>\u793e\u4f1a\u7406\u89e3\u4e0e\u6cd5\u5f8b\u5b8c\u5584<\/strong><br>\u2002\u9700\u52a0\u5f3a\u4f26\u7406\u89c4\u8303\u4e0e\u4fe1\u606f\u63d0\u4f9b\u673a\u5236\uff0c\u501f\u9274\u56fd\u9645\u7ecf\u9a8c<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"12_%E6%80%BB%E7%BB%93\"><\/span>12. \u603b\u7ed3<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>22q11.2\u7f3a\u5931\u7efc\u5408\u5f81\u662f\u4e00\u79cd\u4f34\u968f\u591a\u79cd\u75c7\u72b6\u53ca\u667a\u529b\/\u53d1\u80b2\u969c\u788d\u98ce\u9669\u7684\u67d3\u8272\u4f53\u5fae\u7f3a\u5931\u7efc\u5408\u5f81<\/li>\n\n\n\n<li>NIPT\u53ef\u5728\u5b55\u671f\u7b5b\u67e5\u98ce\u9669\uff0c\u4f46\u786e\u8bca\u9700\u7f8a\u6c34\u7a7f\u523a\u7b49\u68c0\u6d4b<\/li>\n\n\n\n<li>\u56e0\u75c7\u72b6\u5dee\u5f02\u5927\uff0c\u9057\u4f20\u54a8\u8be2\u3001\u5fc3\u7406\u652f\u6301\u53ca\u793e\u4f1a\u51c6\u5907\u4e0d\u53ef\u6216\u7f3a<\/li>\n\n\n\n<li>\u672a\u6765\u7684\u91cd\u70b9\u5728\u4e8e\uff1a\u65e9\u671f\u8bca\u65ad\u3001\u4e2a\u4f53\u5316\u652f\u6301\u3001\u793e\u4f1a\u7406\u89e3\u4e0e\u5236\u5ea6\u5efa\u8bbe<\/li>\n<\/ul>\n\n\n\n<p><\/p>\n","protected":false},"excerpt":{"rendered":"1. \u5f15\u8a00\uff1a\u4ec0\u4e48\u662f22q11.2\u7f3a\u5931\u7efc\u5408&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-22q11-2-deletion-syndrome\/?lang=zh-hans\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":122,"featured_media":116543,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[14],"tags":[],"class_list":["post-116550","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\/116550","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=116550"}],"version-history":[{"count":2,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/116550\/revisions"}],"predecessor-version":[{"id":116557,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/116550\/revisions\/116557"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/116543"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=116550"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=116550"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=116550"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}