{"id":116077,"date":"2025-09-24T17:15:41","date_gmt":"2025-09-24T08:15:41","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-chromosome-abnormality\/"},"modified":"2025-09-24T17:23:36","modified_gmt":"2025-09-24T08:23:36","slug":"nipt-chromosome-abnormality","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-chromosome-abnormality\/?lang=zh-hans","title":{"rendered":"NIPT \u53ef\u8bc6\u522b\u7684\u67d3\u8272\u4f53\u5f02\u5e38\u7c7b\u578b"},"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-chromosome-abnormality\/?lang=zh-hans\/#%E5%BC%95%E8%A8%80\" >\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-chromosome-abnormality\/?lang=zh-hans\/#1_%E4%BB%80%E4%B9%88%E6%98%AF_NIPT\" >1. \u4ec0\u4e48\u662f NIPT<\/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-chromosome-abnormality\/?lang=zh-hans\/#2_NIPT_%E5%8F%AF%E8%AF%86%E5%88%AB%E7%9A%84%E6%9F%93%E8%89%B2%E4%BD%93%E5%BC%82%E5%B8%B8%E7%B1%BB%E5%9E%8B\" >2. NIPT \u53ef\u8bc6\u522b\u7684\u67d3\u8272\u4f53\u5f02\u5e38\u7c7b\u578b<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-chromosome-abnormality\/?lang=zh-hans\/#2%E2%80%911_21_%E4%B8%89%E4%BD%93%EF%BC%88%E5%94%90%E6%B0%8F%E7%BB%BC%E5%90%88%E5%BE%81%EF%BC%89\" >2\u20111. 21 \u4e09\u4f53\uff08\u5510\u6c0f\u7efc\u5408\u5f81\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-chromosome-abnormality\/?lang=zh-hans\/#2%E2%80%912_18_%E4%B8%89%E4%BD%93%EF%BC%88%E7%88%B1%E5%BE%B7%E5%8D%8E%E6%B0%8F%E7%BB%BC%E5%90%88%E5%BE%81%EF%BC%89\" >2\u20112. 18 \u4e09\u4f53\uff08\u7231\u5fb7\u534e\u6c0f\u7efc\u5408\u5f81\uff09<\/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-chromosome-abnormality\/?lang=zh-hans\/#2%E2%80%913_13_%E4%B8%89%E4%BD%93%EF%BC%88%E5%B8%95%E9%99%B6%E7%BB%BC%E5%90%88%E5%BE%81%EF%BC%89\" >2\u20113. 13 \u4e09\u4f53\uff08\u5e15\u9676\u7efc\u5408\u5f81\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-chromosome-abnormality\/?lang=zh-hans\/#2%E2%80%914_%E6%80%A7%E6%9F%93%E8%89%B2%E4%BD%93%E5%BC%82%E5%B8%B8\" >2\u20114. \u6027\u67d3\u8272\u4f53\u5f02\u5e38<\/a><\/li><\/ul><\/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-chromosome-abnormality\/?lang=zh-hans\/#3_NIPT_%E5%8F%AF%E6%A3%80%E6%B5%8B%E7%9A%84%E5%BE%AE%E5%B0%8F%E6%9F%93%E8%89%B2%E4%BD%93%E5%BC%82%E5%B8%B8\" >3. NIPT \u53ef\u68c0\u6d4b\u7684\u5fae\u5c0f\u67d3\u8272\u4f53\u5f02\u5e38<\/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-chromosome-abnormality\/?lang=zh-hans\/#4_NIPT_%E7%9A%84%E7%B2%BE%E5%BA%A6%E4%B8%8E%E5%B1%80%E9%99%90%E6%80%A7\" >4. NIPT \u7684\u7cbe\u5ea6\u4e0e\u5c40\u9650\u6027<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-chromosome-abnormality\/?lang=zh-hans\/#4%E2%80%911_%E7%B2%BE%E5%BA%A6\" >4\u20111. \u7cbe\u5ea6<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-chromosome-abnormality\/?lang=zh-hans\/#4%E2%80%912_%E5%B1%80%E9%99%90\" >4\u20112. \u5c40\u9650<\/a><\/li><\/ul><\/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-chromosome-abnormality\/?lang=zh-hans\/#5_%E6%8E%A5%E5%8F%97_NIPT_%E7%9A%84%E6%97%B6%E6%9C%BA%E4%B8%8E%E6%B5%81%E7%A8%8B\" >5. \u63a5\u53d7 NIPT \u7684\u65f6\u673a\u4e0e\u6d41\u7a0b<\/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-chromosome-abnormality\/?lang=zh-hans\/#6_%E6%A3%80%E6%B5%8B%E9%80%89%E6%8B%A9%E6%97%B6%E7%9A%84%E6%B3%A8%E6%84%8F%E4%BA%8B%E9%A1%B9\" >6. \u68c0\u6d4b\u9009\u62e9\u65f6\u7684\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-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-chromosome-abnormality\/?lang=zh-hans\/#7_%E8%BF%84%E4%BB%8A%E4%B8%BA%E6%AD%A2%E7%9A%84%E6%80%BB%E7%BB%93\" >7. \u8fc4\u4eca\u4e3a\u6b62\u7684\u603b\u7ed3<\/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-chromosome-abnormality\/?lang=zh-hans\/#8_NIPT_%E7%9A%84%E6%9C%80%E6%96%B0%E6%8A%80%E6%9C%AF%E4%B8%8E%E6%A3%80%E6%B5%8B%E8%8C%83%E5%9B%B4%E5%A4%9A%E6%A0%B7%E5%8C%96\" >8. NIPT \u7684\u6700\u65b0\u6280\u672f\u4e0e\u68c0\u6d4b\u8303\u56f4\u591a\u6837\u5316<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-chromosome-abnormality\/?lang=zh-hans\/#8%E2%80%911_%E4%B8%8E%E5%BE%AE%E9%98%B5%E5%88%97%EF%BC%88Microarray%EF%BC%89%E6%A3%80%E6%B5%8B%E7%BB%93%E5%90%88\" >8\u20111. \u4e0e\u5fae\u9635\u5217\uff08Microarray\uff09\u68c0\u6d4b\u7ed3\u5408<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-chromosome-abnormality\/?lang=zh-hans\/#8%E2%80%912_%E6%80%A7%E6%9F%93%E8%89%B2%E4%BD%93%E5%BC%82%E5%B8%B8%E7%9A%84%E7%B2%BE%E5%BA%A6%E6%8F%90%E5%8D%87\" >8\u20112. \u6027\u67d3\u8272\u4f53\u5f02\u5e38\u7684\u7cbe\u5ea6\u63d0\u5347<\/a><\/li><\/ul><\/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-chromosome-abnormality\/?lang=zh-hans\/#9_NIPT_%E7%9A%84%E7%BB%9F%E8%AE%A1%E4%B8%8E%E5%8F%97%E6%A3%80%E6%83%85%E5%86%B5\" >9. NIPT \u7684\u7edf\u8ba1\u4e0e\u53d7\u68c0\u60c5\u51b5<\/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-chromosome-abnormality\/?lang=zh-hans\/#10_%E6%8E%A5%E5%8F%97_NIPT_%E6%97%B6%E7%9A%84%E4%BC%A6%E7%90%86%E8%80%83%E9%87%8F\" >10. \u63a5\u53d7 NIPT \u65f6\u7684\u4f26\u7406\u8003\u91cf<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-20\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-chromosome-abnormality\/?lang=zh-hans\/#11_NIPT_%E7%9A%84%E8%B4%B9%E7%94%A8%E4%B8%8E%E4%BF%9D%E9%99%A9%E9%80%82%E7%94%A8\" >11. NIPT \u7684\u8d39\u7528\u4e0e\u4fdd\u9669\u9002\u7528<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-21\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-chromosome-abnormality\/?lang=zh-hans\/#12_%E9%80%89%E6%8B%A9_NIPT_%E6%A3%80%E6%B5%8B%E7%9A%84%E8%A6%81%E7%82%B9\" >12. \u9009\u62e9 NIPT \u68c0\u6d4b\u7684\u8981\u70b9<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-22\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-chromosome-abnormality\/?lang=zh-hans\/#13_%E7%BB%93%E8%AF%AD\" >13. \u7ed3\u8bed<\/a><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%BC%95%E8%A8%80\"><\/span><strong>\u5f15\u8a00<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u4f5c\u4e3a\u598a\u5a20\u671f\u7684\u4ea7\u524d\u8bca\u65ad\u624b\u6bb5\u4e4b\u4e00\uff0c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>\uff08Non\u2011Invasive Prenatal Testing\uff1a\u65e0\u521b\u4ea7\u524d\u57fa\u56e0\u68c0\u6d4b\uff09\u662f\u901a\u8fc7\u6bcd\u4f53\u8840\u6db2\u4e2d\u7684\u80ce\u513f DNA \u8fdb\u884c\u5206\u6790\uff0c\u4ece\u800c\u65e9\u671f\u786e\u8ba4\u5404\u79cd\u67d3\u8272\u4f53\u5f02\u5e38\u7684\u9769\u65b0\u6027\u68c0\u6d4b\u65b9\u6cd5\u3002\u76f8\u6bd4\u4f20\u7edf\u7684\u4fb5\u5165\u6027\u68c0\u6d4b\uff0c\u5982\u7f8a\u819c\u7a7f\u523a\u6216\u7ed2\u6bdb\u53d6\u6837\uff0c\u5176\u5bf9\u6bcd\u4f53\u548c\u80ce\u513f\u7684\u98ce\u9669\u8f83\u4f4e\uff0c\u4e14\u5177\u6709\u8f83\u9ad8\u7cbe\u5ea6\uff0c\u56e0\u6b64\u8d8a\u6765\u8d8a\u591a\u7684\u5b55\u5987\u9009\u62e9\u91c7\u7528\u8be5\u68c0\u6d4b\u65b9\u6cd5\u3002<br>\u672c\u6587\u5c06\u8be6\u7ec6\u4ecb\u7ecd <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> \u53ef\u68c0\u6d4b\u7684\u67d3\u8272\u4f53\u5f02\u5e38\u7c7b\u578b\u3001\u68c0\u6d4b\u673a\u5236\u3001\u7cbe\u5ea6\u4e0e\u5c40\u9650\u3001\u4ee5\u53ca\u5728\u68c0\u6d4b\u9009\u62e9\u65f6\u7684\u6ce8\u610f\u4e8b\u9879\u7b49\u5185\u5bb9\u3002<\/p>\n\n\n\n<p><\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E4%BB%80%E4%B9%88%E6%98%AF_NIPT\"><\/span>1. \u4ec0\u4e48\u662f NIPT<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\u901a\u8fc7\u5206\u6790\u5b55\u5987\u8840\u6db2\u4e2d\u5fae\u91cf\u5b58\u5728\u7684 <strong>\u80ce\u513f\u6765\u6e90\u6e38\u79bb DNA\uff08cfDNA\uff09<\/strong>\uff0c\u6765\u63a8\u65ad\u80ce\u513f\u662f\u5426\u5b58\u5728\u67d3\u8272\u4f53\u6570\u76ee\u5f02\u5e38\u7684\u68c0\u6d4b\u65b9\u6cd5\u3002<br>\u6bcd\u4f53\u8840\u6db2\u4e2d\u7684\u80ce\u513f DNA \u4ece\u598a\u5a20\u65e9\u671f\u5373\u53ef\u88ab\u68c0\u6d4b\uff0c\u4e00\u822c\u5728\u598a\u5a20\u7b2c 10 \u5468\u4ee5\u540e\u8fdb\u884c\u68c0\u6d4b\u3002\u4e0e\u4fb5\u5165\u6027\u68c0\u6d4b\u76f8\u6bd4\uff0c\u5176\u6d41\u4ea7\u98ce\u9669\u51e0\u4e4e\u4e3a\u96f6\uff0c\u8fd9\u662f\u5176\u4e00\u5927\u7279\u70b9\u3002<\/p>\n\n\n\n<p><strong><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> \u7684\u68c0\u6d4b\u6d41\u7a0b<\/strong><\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li>\u4ece\u5b55\u5987\u62bd\u53d6\u8840\u6db2<\/li>\n\n\n\n<li>\u63d0\u53d6 cfDNA<\/li>\n\n\n\n<li>\u901a\u8fc7\u4e0b\u4e00\u4ee3\u6d4b\u5e8f\uff08NGS\uff09\u7b49\u6280\u672f\u8fdb\u884c\u67d3\u8272\u4f53\u5206\u6790<\/li>\n\n\n\n<li>\u8bc4\u4f30\u662f\u5426\u5b58\u5728\u67d3\u8272\u4f53\u6570\u76ee\u5f02\u5e38<\/li>\n<\/ol>\n\n\n\n<p><\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_NIPT_%E5%8F%AF%E8%AF%86%E5%88%AB%E7%9A%84%E6%9F%93%E8%89%B2%E4%BD%93%E5%BC%82%E5%B8%B8%E7%B1%BB%E5%9E%8B\"><\/span>2. NIPT \u53ef\u8bc6\u522b\u7684\u67d3\u8272\u4f53\u5f02\u5e38\u7c7b\u578b<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> \u4e3b\u8981\u7528\u6765\u68c0\u6d4b\u80ce\u513f\u7684\u6570\u76ee\u6027\u67d3\u8272\u4f53\u5f02\u5e38\uff08\u5982\u4e09\u4f53\u6216\u5355\u4f53\uff09\u3002\u4ee5\u4e0b\u662f\u4e00\u4e9b\u4ee3\u8868\u6027\u5f02\u5e38\u7684\u7b80\u4ecb\uff1a<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2%E2%80%911_21_%E4%B8%89%E4%BD%93%EF%BC%88%E5%94%90%E6%B0%8F%E7%BB%BC%E5%90%88%E5%BE%81%EF%BC%89\"><\/span>2\u20111. 21 \u4e09\u4f53\uff08\u5510\u6c0f\u7efc\u5408\u5f81\uff09<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>21 \u4e09\u4f53\u662f\u6700\u5e38\u89c1\u7684\u67d3\u8272\u4f53\u5f02\u5e38\u4e4b\u4e00\uff0c\u56e0\u7b2c 21 \u53f7\u67d3\u8272\u4f53\u5b58\u5728\u4e00\u6761\u989d\u5916\u67d3\u8272\u4f53\u800c\u53d1\u751f\u3002<br>\u5176\u5178\u578b\u7684\u8eab\u4f53\u7279\u5f81\u5305\u62ec\uff1a\u8eab\u6750\u77ee\u5c0f\u3001\u9762\u90e8\u6241\u5e73\u3001\u773c\u88c2\u5f02\u5e38\u3001\u667a\u529b\u969c\u788d\u7b49\u3002<br><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> \u7684\u68c0\u6d4b\u7075\u654f\u5ea6\u53ef\u8fbe 99\uff05\u4ee5\u4e0a\uff0c\u7279\u5f02\u6027\u4ea6\u53ef\u8fbe 99\uff05\u4ee5\u4e0a\uff0c\u7cbe\u5ea6\u6781\u9ad8\u3002<\/p>\n\n\n\n<p>\u53c2\u8003\u6587\u732e\uff1aBianchi DW \u7b49, <em>N Engl J Med<\/em>, 2014;370:799\u2011808\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2%E2%80%912_18_%E4%B8%89%E4%BD%93%EF%BC%88%E7%88%B1%E5%BE%B7%E5%8D%8E%E6%B0%8F%E7%BB%BC%E5%90%88%E5%BE%81%EF%BC%89\"><\/span>2\u20112. 18 \u4e09\u4f53\uff08\u7231\u5fb7\u534e\u6c0f\u7efc\u5408\u5f81\uff09<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>18 \u4e09\u4f53\u7531\u7b2c 18 \u53f7\u67d3\u8272\u4f53\u591a\u4e00\u6761\u67d3\u8272\u4f53\u5f15\u8d77\u3002\u5e38\u4f34\u91cd\u5ea6\u5fc3\u810f\u7578\u5f62\u3001\u80be\u810f\u7578\u5f62\u3001\u53d1\u80b2\u8fdf\u7f13\u7b49\uff0c\u51fa\u751f\u540e\u5b58\u6d3b\u671f\u901a\u5e38\u8f83\u77ed\u3002<br><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> \u5bf9\u5176\u68c0\u6d4b\u7cbe\u5ea6\u4e5f\u8f83\u9ad8\uff0c\u7075\u654f\u5ea6\u7ea6\u4e3a 97\uff5e99\uff05\uff0c\u7279\u5f02\u6027\u7ea6\u4e3a 99\uff05\u3002<\/p>\n\n\n\n<p>\u53c2\u8003\u6587\u732e\uff1aPalomaki GE \u7b49, <em>Genet Med<\/em>, 2012;14:296\u2011305\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2%E2%80%913_13_%E4%B8%89%E4%BD%93%EF%BC%88%E5%B8%95%E9%99%B6%E7%BB%BC%E5%90%88%E5%BE%81%EF%BC%89\"><\/span>2\u20113. 13 \u4e09\u4f53\uff08\u5e15\u9676\u7efc\u5408\u5f81\uff09<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>13 \u4e09\u4f53\u662f\u7b2c 13 \u53f7\u67d3\u8272\u4f53\u51fa\u73b0\u989d\u5916\u67d3\u8272\u4f53\u3002\u901a\u5e38\u4f34\u6709\u591a\u79cd\u5148\u5929\u6027\u5f02\u5e38\uff0c\u751f\u5b58\u671f\u8f83\u77ed\u4e3a\u7279\u70b9\u3002<br>\u5728 <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> \u4e2d\uff0c\u5176\u68c0\u6d4b\u7075\u654f\u5ea6\u7ea6\u4e3a 90\uff5e95\uff05\uff0c\u7279\u5f02\u6027\u7ea6\u4e3a 99\uff05\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2%E2%80%914_%E6%80%A7%E6%9F%93%E8%89%B2%E4%BD%93%E5%BC%82%E5%B8%B8\"><\/span>2\u20114. \u6027\u67d3\u8272\u4f53\u5f02\u5e38<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> \u4ea6\u53ef\u68c0\u6d4b\u6027\u67d3\u8272\u4f53\uff08X\u3001Y \u67d3\u8272\u4f53\uff09\u7684\u5f02\u5e38\u3002\u4e3b\u8981\u5305\u62ec\u4ee5\u4e0b\u51e0\u79cd\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7279\u7eb3\u7efc\u5408\u5f81\uff0845,X\uff09<\/strong>\uff1a\u5973\u6027\u7f3a\u5c11\u4e00\u6761 X \u67d3\u8272\u4f53\u3002\u53ef\u80fd\u8868\u73b0\u4e3a\u8eab\u9ad8\u504f\u4f4e\u3001\u5375\u5de2\u529f\u80fd\u4e0d\u5168\u7b49\u3002<\/li>\n\n\n\n<li><strong>\u514b\u6c0f\u7efc\u5408\u5f81\uff0847,XXY\uff09<\/strong>\uff1a\u7537\u6027\u5177\u6709\u4e00\u6761\u989d\u5916\u7684 X \u67d3\u8272\u4f53\u3002\u5e38\u89c1\u7279\u5f81\u6709\u8eab\u9ad8\u504f\u9ad8\u3001\u7cbe\u5b50\u751f\u6210\u5f02\u5e38\u3001\u5b66\u4e60\u969c\u788d\u98ce\u9669\u7b49\u3002<\/li>\n\n\n\n<li><strong>\u4e09 X \u7efc\u5408\u5f81\uff0847,XXX\uff09<\/strong>\uff1a\u5973\u6027\u5177\u4e00\u6761\u989d\u5916\u7684 X \u67d3\u8272\u4f53\u3002\u53ef\u80fd\u51fa\u73b0\u8f7b\u5ea6\u667a\u529b\u969c\u788d\u6216\u751f\u6b96\u529f\u80fd\u5f02\u5e38\u3002<\/li>\n\n\n\n<li><strong>\u96c5\u5404\u5e03\u6c0f\u7efc\u5408\u5f81\uff0847,XYY\uff09<\/strong>\uff1a\u7537\u6027\u5177\u6709\u4e00\u6761\u989d\u5916\u7684 Y \u67d3\u8272\u4f53\u3002\u8eab\u4f53\u5f02\u5e38\u901a\u5e38\u8f83\u8f7b\uff0c\u5bf9\u667a\u529b\u5f71\u54cd\u88ab\u8ba4\u4e3a\u8f83\u5c0f\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u53c2\u8003\u6587\u732e\uff1aNorton ME \u7b49, <em>N Engl J Med<\/em>, 2015;372:1589\u20111597\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_%E5%8F%AF%E6%A3%80%E6%B5%8B%E7%9A%84%E5%BE%AE%E5%B0%8F%E6%9F%93%E8%89%B2%E4%BD%93%E5%BC%82%E5%B8%B8\"><\/span>3. NIPT \u53ef\u68c0\u6d4b\u7684\u5fae\u5c0f\u67d3\u8272\u4f53\u5f02\u5e38<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u968f\u7740\u6280\u672f\u8fdb\u6b65\uff0c\u4e0d\u4ec5\u53ef\u4ee5\u68c0\u6d4b\u4f20\u7edf\u7684\u4e09\u4f53\u4e0e\u5355\u4f53\u5f02\u5e38\uff0c\u8fd8\u80fd\u5728\u4e00\u5b9a\u7a0b\u5ea6\u4e0a\u68c0\u6d4b <strong>\u5fae\u5c0f\u7f3a\u5931\/\u91cd\u590d\uff08microdeletion \/ microduplication\uff09<\/strong>\u3002<br>\u4f8b\u5982\uff0c<strong>22q11.2 \u7f3a\u5931\u75c7\u5019\u7fa4\uff08\u7b2c 22 \u53f7\u67d3\u8272\u4f53\u7b2c 11.2 \u533a\u57df\u7f3a\u5931\uff0c\u4ea6\u79f0\u7b2c 22 \u53f7\u7f3a\u5931\u75c7\uff0f\u7b2c 22 \u53f7\u5fae\u7f3a\u5931\u7efc\u5408\u5f81\uff0f\u7b2c 22q11.2 \u7f3a\u5931\u75c7\uff09<\/strong>\uff0c\u53ef\u4f34\u6709\u5fc3\u810f\u7578\u5f62\u3001\u514d\u75ab\u5f02\u5e38\u3001\u667a\u529b\u969c\u788d\u7b49\uff0c\u76ee\u524d\u5df2\u6709\u5c06\u5176\u7eb3\u5165 <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> \u68c0\u6d4b\u7684\u5c1d\u8bd5\u3002<br>\u53c2\u8003\u6587\u732e\uff1aLiang D \u7b49, <em>Prenat Diagn<\/em>, 2018;38:789\u2011797\u3002<br>\u4e0d\u8fc7\uff0c\u5fae\u5c0f\u5f02\u5e38\u7684\u68c0\u6d4b\u7075\u654f\u5ea6\u8f83\u4f4e\uff0c\u5047\u9633\u6027\u7387\u76f8\u5bf9\u8f83\u9ad8\u3002\u56e0\u6b64\u4e00\u65e6\u7ed3\u679c\u4e3a\u9633\u6027\uff0c\u4ecd\u5efa\u8bae\u901a\u8fc7\u7f8a\u6c34\u7a7f\u523a\u6216\u7ed2\u6bdb\u53d6\u6837\u8fdb\u884c\u786e\u8bca\u3002<\/p>\n\n\n\n<p><\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_NIPT_%E7%9A%84%E7%B2%BE%E5%BA%A6%E4%B8%8E%E5%B1%80%E9%99%90%E6%80%A7\"><\/span>4. NIPT \u7684\u7cbe\u5ea6\u4e0e\u5c40\u9650\u6027<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4%E2%80%911_%E7%B2%BE%E5%BA%A6\"><\/span>4\u20111. \u7cbe\u5ea6<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>21 \u4e09\u4f53\uff1a\u7075\u654f\u5ea6 99\uff05\u4ee5\u4e0a\uff0c\u7279\u5f02\u6027 99\uff05\u4ee5\u4e0a<\/li>\n\n\n\n<li>18 \u4e09\u4f53\uff1a\u7075\u654f\u5ea6\u7ea6 97\uff5e99\uff05\uff0c\u7279\u5f02\u6027\u7ea6 99\uff05<\/li>\n\n\n\n<li>13 \u4e09\u4f53\uff1a\u7075\u654f\u5ea6\u7ea6 90\uff5e95\uff05\uff0c\u7279\u5f02\u6027\u7ea6 99\uff05<\/li>\n\n\n\n<li>\u6027\u67d3\u8272\u4f53\u5f02\u5e38\uff1a\u7075\u654f\u5ea6\u7ea6 85\uff5e95\uff05\uff0c\u7279\u5f02\u6027\u7ea6 99\uff05<\/li>\n<\/ul>\n\n\n\n<p>\u53c2\u8003\u6587\u732e\uff1aGil MM \u7b49, <em>Ultrasound Obstet Gynecol<\/em>, 2015;45:530\u2011539\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4%E2%80%912_%E5%B1%80%E9%99%90\"><\/span>4\u20112. \u5c40\u9650<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5047\u9633\u6027 \/ \u5047\u9634\u6027<\/strong><br>cfDNA \u4e2d\u6df7\u6742\u6bcd\u4f53\u6765\u6e90 DNA\uff0c\u56e0\u6b64\u82e5\u6bcd\u4f53\u672c\u8eab\u5b58\u5728\u67d3\u8272\u4f53\u5f02\u5e38\u6216\u80bf\u7624\uff0c\u53ef\u80fd\u5bf9\u7ed3\u679c\u9020\u6210\u5e72\u6270\u3002<\/li>\n\n\n\n<li><strong>\u5fae\u5c0f\u67d3\u8272\u4f53\u5f02\u5e38\u7684\u68c0\u6d4b\u4e0b\u9650<\/strong><br>\u5bf9\u4e8e 5\uff5e10 Mb \u4ee5\u4e0b\u7684\u5c0f\u578b\u7f3a\u5931\/\u91cd\u590d\uff0c\u68c0\u6d4b\u8f83\u56f0\u96be\u3002<\/li>\n\n\n\n<li><strong>\u65e0\u6cd5\u4f5c\u4e3a\u786e\u8bca\u68c0\u6d4b<\/strong><br><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> \u662f\u4e00\u79cd\u7b5b\u67e5\u68c0\u6d4b\u3002\u82e5\u7ed3\u679c\u4e3a\u9633\u6027\uff0c\u5fc5\u987b\u901a\u8fc7\u7f8a\u6c34\u7a7f\u523a\u3001\u7ed2\u6bdb\u53d6\u6837\u7b49\u4fb5\u5165\u6027\u68c0\u6d4b\u8fdb\u884c\u786e\u8bca\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=\"5_%E6%8E%A5%E5%8F%97_NIPT_%E7%9A%84%E6%97%B6%E6%9C%BA%E4%B8%8E%E6%B5%81%E7%A8%8B\"><\/span>5. \u63a5\u53d7 NIPT \u7684\u65f6\u673a\u4e0e\u6d41\u7a0b<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ol class=\"wp-block-list\">\n<li>\u5728\u598a\u5a20\u7b2c 10 \u5468\u4ee5\u540e\uff0c\u901a\u8fc7\u598a\u5987\u68c0\u67e5\u4e0e\u533b\u5e08\u5546\u8ba8<\/li>\n\n\n\n<li>\u62bd\u53d6\u8840\u6db2<\/li>\n\n\n\n<li>\u9001\u81f3\u68c0\u6d4b\u673a\u6784<\/li>\n\n\n\n<li>\u5f97\u5230\u7ed3\u679c\uff08\u901a\u5e38\u9700 1\uff5e2 \u5468\uff09<\/li>\n\n\n\n<li>\u82e5\u4e3a\u9633\u6027\uff0c\u9700\u4e0e\u533b\u5e08\u5546\u8ba8\u662f\u5426\u8fdb\u884c\u786e\u8bca\u68c0\u6d4b<\/li>\n<\/ol>\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\/32943421_s.webp\" alt=\"\u598a\u5a66\" class=\"wp-image-116072\"\/><\/figure><\/div>\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"6_%E6%A3%80%E6%B5%8B%E9%80%89%E6%8B%A9%E6%97%B6%E7%9A%84%E6%B3%A8%E6%84%8F%E4%BA%8B%E9%A1%B9\"><\/span>6. \u68c0\u6d4b\u9009\u62e9\u65f6\u7684\u6ce8\u610f\u4e8b\u9879<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u867d\u7136 <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> \u7cbe\u5ea6\u8f83\u9ad8\uff0c\u4f46\u5fc5\u987b\u7406\u89e3\u5176<strong>\u975e\u786e\u8bca<\/strong>\u6027\u8d28<\/li>\n\n\n\n<li>\u6027\u67d3\u8272\u4f53\u5f02\u5e38\u53ca\u5fae\u5c0f\u67d3\u8272\u4f53\u5f02\u5e38\u7684\u68c0\u6d4b\u7cbe\u5ea6\u8f83\u4f4e<\/li>\n\n\n\n<li>\u5404\u533b\u9662\u6216\u68c0\u6d4b\u673a\u6784\u53ef\u8986\u76d6\u7684\u67d3\u8272\u4f53\u5f02\u5e38\u7c7b\u578b\u4e0d\u540c<\/li>\n\n\n\n<li>\u68c0\u6d4b\u7ed3\u679c\u53ef\u80fd\u5bf9\u5b55\u5987\u4ea7\u751f\u8f83\u5927\u5fc3\u7406\u5f71\u54cd\uff0c\u5efa\u8bae\u914d\u5408<strong>\u9057\u4f20\u54a8\u8be2<\/strong><\/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_%E8%BF%84%E4%BB%8A%E4%B8%BA%E6%AD%A2%E7%9A%84%E6%80%BB%E7%BB%93\"><\/span>7. \u8fc4\u4eca\u4e3a\u6b62\u7684\u603b\u7ed3<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> \u5bf9\u5b55\u5987\u800c\u8a00\uff0c\u5bf9\u6bcd\u4f53\u4e0e\u80ce\u513f\u51e0\u4e4e\u6ca1\u6709\u98ce\u9669\uff0c\u80fd\u591f\u9ad8\u7cbe\u5ea6\u7b5b\u67e5 21 \u4e09\u4f53\u300118 \u4e09\u4f53\u300113 \u4e09\u4f53\u7b49\u4e3b\u8981\u67d3\u8272\u4f53\u5f02\u5e38\uff0c\u662f\u4e00\u79cd\u7a81\u7834\u6027\u7684\u4ea7\u524d\u8bca\u65ad\u6280\u672f\u3002\u8fd1\u5e74\u6765\u8fd8\u53ef\u5728\u4e00\u5b9a\u7a0b\u5ea6\u68c0\u6d4b\u5fae\u5c0f\u67d3\u8272\u4f53\u5f02\u5e38\uff0c\u6269\u5927\u4e86\u68c0\u6d4b\u8303\u56f4\u3002<br>\u7136\u800c\uff0c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> \u4ec5\u4e3a\u7b5b\u67e5\u68c0\u6d4b\uff0c\u5e76\u975e\u786e\u8bca\u3002\u7406\u89e3\u5176\u5c40\u9650\u6027\u2014\u2014\u5c24\u5176\u662f\u5fae\u5c0f\u5f02\u5e38\u4e0e\u6027\u67d3\u8272\u4f53\u5f02\u5e38\u7684\u7cbe\u5ea6\u9650\u5236\u2014\u2014\u5728\u63a5\u53d7\u68c0\u6d4b\u65f6\u975e\u5e38\u91cd\u8981\u3002\u5728\u533b\u5e08\u4e0e\u9057\u4f20\u987e\u95ee\u7684\u534f\u52a9\u4e0b\u5408\u7406\u5229\u7528 <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>\uff0c\u53ef\u62d3\u5c55\u4ea7\u524d\u8bca\u7597\u9009\u9879\uff0c\u6709\u52a9\u4e8e\u5b89\u5fc3\u7684\u598a\u5a20\u7ba1\u7406\u3002<\/p>\n\n\n\n<p><\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"8_NIPT_%E7%9A%84%E6%9C%80%E6%96%B0%E6%8A%80%E6%9C%AF%E4%B8%8E%E6%A3%80%E6%B5%8B%E8%8C%83%E5%9B%B4%E5%A4%9A%E6%A0%B7%E5%8C%96\"><\/span>8. NIPT \u7684\u6700\u65b0\u6280\u672f\u4e0e\u68c0\u6d4b\u8303\u56f4\u591a\u6837\u5316<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u968f\u7740\u6280\u672f\u8fdb\u6b65\uff0c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> \u6b63\u5728\u5411\u4ee5\u4e0b\u66f4\u5e7f\u6cdb\u7684\u5f02\u5e38\u65b9\u5411\u6269\u5c55\uff1a<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"8%E2%80%911_%E4%B8%8E%E5%BE%AE%E9%98%B5%E5%88%97%EF%BC%88Microarray%EF%BC%89%E6%A3%80%E6%B5%8B%E7%BB%93%E5%90%88\"><\/span>8\u20111. \u4e0e\u5fae\u9635\u5217\uff08Microarray\uff09\u68c0\u6d4b\u7ed3\u5408<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u7ed3\u5408\u5fae\u9635\u5217\u6280\u672f\u540e\uff0c\u53ef\u4ee5\u68c0\u6d4b\u4f20\u7edf <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> \u96be\u4ee5\u8bc6\u522b\u7684 <strong>\u5fae\u5c0f\u7f3a\u5931\/\u91cd\u590d<\/strong>\u3002\u4f8b\u5982\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>22q11.2 \u7f3a\u5931\u75c7\u5019\u7fa4<\/li>\n\n\n\n<li><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/1p-36-deletion-syndrome\/\">1p36<\/a> \u7f3a\u5931\u75c7\u5019\u7fa4<\/li>\n\n\n\n<li>15q11.2 \u7f3a\u5931\u75c7\u5019\u7fa4\uff08\u5305\u62ec Prader\u2011Willi \u7efc\u5408\u5f81\u3001Angelman \u7efc\u5408\u5f81\u7b49\uff09<br>\u4f46\u8fd9\u4e9b\u5f02\u5e38\u7684\u68c0\u6d4b\u7075\u654f\u5ea6\uff0f\u7279\u5f02\u6027\u76f8\u5bf9\u504f\u4f4e\uff0c\u4e00\u65e6\u68c0\u6d4b\u4e3a\u9633\u6027\uff0c\u5fc5\u987b\u901a\u8fc7\u7f8a\u6c34\u6216\u7ed2\u6bdb\u7b49\u786e\u8bca\u68c0\u6d4b\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"8%E2%80%912_%E6%80%A7%E6%9F%93%E8%89%B2%E4%BD%93%E5%BC%82%E5%B8%B8%E7%9A%84%E7%B2%BE%E5%BA%A6%E6%8F%90%E5%8D%87\"><\/span>8\u20112. \u6027\u67d3\u8272\u4f53\u5f02\u5e38\u7684\u7cbe\u5ea6\u63d0\u5347<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8fc7\u53bb X\u3001Y \u67d3\u8272\u4f53\u6570\u76ee\u5f02\u5e38\u7684\u68c0\u6d4b\u7cbe\u5ea6\u8f83\u4f4e\uff0c\u4f46\u901a\u8fc7\u6700\u65b0\u7684 NGS \u6280\u672f\uff0c\u5176\u5bf9\u7279\u7eb3\u7efc\u5408\u5f81\u3001\u514b\u6c0f\u7efc\u5408\u5f81\u7b49\u7684\u68c0\u6d4b\u7cbe\u5ea6\u5df2\u6709\u6240\u6539\u5584\u3002\u7136\u800c\u7531\u4e8e\u5047\u9633\u6027\u98ce\u9669\u4f9d\u7136\u5b58\u5728\uff0c\u82e5\u6027\u67d3\u8272\u4f53\u5f02\u5e38\u7ed3\u679c\u4e3a\u9633\u6027\uff0c\u5219\u9057\u4f20\u54a8\u8be2\u4e0e\u786e\u8bca\u68c0\u6d4b\u4ecd\u4e0d\u53ef\u6216\u7f3a\u3002<\/p>\n\n\n\n<p><\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"9_NIPT_%E7%9A%84%E7%BB%9F%E8%AE%A1%E4%B8%8E%E5%8F%97%E6%A3%80%E6%83%85%E5%86%B5\"><\/span>9. NIPT \u7684\u7edf\u8ba1\u4e0e\u53d7\u68c0\u60c5\u51b5<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u5728\u65e5\u672c\uff0c\u81ea 2013 \u5e74\u8d77\uff0c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> \u5b9e\u65bd\u673a\u6784\u6570\u91cf\u4e0d\u65ad\u589e\u52a0\uff0c\u6bcf\u5e74\u7ea6\u6709\u5341\u4e07\u4ef6\u4ee5\u4e0a\u7684\u5b55\u5987\u63a5\u53d7\u8be5\u68c0\u6d4b\u3002<br>\u867d\u7136\u4ee5\u9ad8\u9f84\u5b55\u5987\uff0835 \u5c81\u4ee5\u4e0a\uff09\u4e3a\u4e3b\u8981\u53d7\u68c0\u5bf9\u8c61\uff0c\u4f46\u8fd1\u5e74\u6765\u5404\u5e74\u9f84\u5c42\u7684\u5229\u7528\u4e5f\u5728\u6269\u5927\u3002<br><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> \u7684\u9633\u6027\u9884\u6d4b\u503c\uff08PPV\uff0cPositive Predictive Value\uff0c\u5373\u9633\u6027\u7ed3\u679c\u771f\u6b63\u4e3a\u5f02\u5e38\u7684\u6982\u7387\uff09\u4f1a\u968f\u6bcd\u4f53\u5e74\u9f84\u4e0e\u598a\u5a20\u5468\u6570\u800c\u53d8\u5316\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>35 \u5c81\u4ee5\u4e0a\u8005\uff1a\u7ea6 90\uff05<\/li>\n\n\n\n<li>30 \u5c81\u5de6\u53f3\u8005\uff1a\u7ea6 60\uff5e70\uff05<\/li>\n<\/ul>\n\n\n\n<p>\u53c2\u8003\u6587\u732e\uff1aAkolekar R \u7b49, <em>Ultrasound Obstet Gynecol<\/em>, 2015;45:530\u2011539\u3002<\/p>\n\n\n\n<p><\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"10_%E6%8E%A5%E5%8F%97_NIPT_%E6%97%B6%E7%9A%84%E4%BC%A6%E7%90%86%E8%80%83%E9%87%8F\"><\/span>10. \u63a5\u53d7 NIPT \u65f6\u7684\u4f26\u7406\u8003\u91cf<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> \u867d\u7136\u80fd\u5e26\u6765\u9ad8\u5ea6\u7684\u4fe1\u606f\uff0c\u4f46\u5bf9\u5fc3\u7406\u4e0e\u4f26\u7406\u7684\u8003\u91cf\u81f3\u5173\u91cd\u8981\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u9633\u6027\u7ed3\u679c\u4ec5\u63d0\u793a\u80ce\u513f\u5b58\u5728\u5f02\u5e38\u53ef\u80fd\u6027\uff0c\u4e0d\u80fd\u786e\u8bca<\/li>\n\n\n\n<li>\u4ea7\u524d\u83b7\u53d6\u7684\u4fe1\u606f\u53ef\u80fd\u4e3a\u5b55\u5987\u6216\u5bb6\u5ead\u5e26\u6765\u5fc3\u7406\u8d1f\u62c5<\/li>\n\n\n\n<li>\u67d3\u8272\u4f53\u5f02\u5e38\u7c7b\u578b\u4e0d\u540c\uff0c\u5176\u5f71\u54cd\u53ef\u80fd\u4ece\u8f7b\u5fae\u5230\u4e25\u91cd\u4e0d\u7b49<\/li>\n\n\n\n<li>\u6027\u67d3\u8272\u4f53\u5f02\u5e38\u7684\u68c0\u6d4b\u7ed3\u679c\u53ef\u80fd\u5bf9\u598a\u5a20\u4e2d\u7684\u9009\u62e9\u4ea7\u751f\u5f71\u54cd<\/li>\n<\/ul>\n\n\n\n<p>\u56e0\u6b64\uff0c\u5efa\u8bae\u5728\u68c0\u6d4b\u524d\u540e\u63a5\u53d7\u9057\u4f20\u54a8\u8be2\u3002\u54a8\u8be2\u8fc7\u7a0b\u4e2d\u4f1a\u5bf9\u68c0\u6d4b\u7684\u5c40\u9650\u6027\u3001\u7ed3\u679c\u89e3\u8bfb\u3001\u672a\u6765\u533b\u7597\u9009\u9879\u7b49\u8fdb\u884c\u5145\u5206\u8bf4\u660e\u3002<\/p>\n\n\n\n<p><\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"11_NIPT_%E7%9A%84%E8%B4%B9%E7%94%A8%E4%B8%8E%E4%BF%9D%E9%99%A9%E9%80%82%E7%94%A8\"><\/span>11. NIPT \u7684\u8d39\u7528\u4e0e\u4fdd\u9669\u9002\u7528<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u5728\u65e5\u672c\uff0c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> \u7684\u8d39\u7528\u901a\u5e38\u5728\u7ea6 15 \u4e07\u81f3 20 \u4e07\u65e5\u5143\u5de6\u53f3\u3002<br>\u76ee\u524d <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> \u539f\u5219\u4e0a\u4e0d\u5728\u4fdd\u9669\u9002\u7528\u8303\u56f4\u5185\uff0c\u5c5e\u4e8e\u81ea\u8d39\u4f53\u68c0\u9879\u76ee\u3002<br>\u5373\u4fbf\u662f\u9ad8\u9f84\u5b55\u5987\u6216\u5b58\u5728\u67d3\u8272\u4f53\u5f02\u5e38\u9ad8\u98ce\u9669\u8005\uff0c\u4e5f\u57fa\u672c\u4e3a\u81ea\u8d39\u3002<br>\u9700\u6ce8\u610f\uff1a\u4e0d\u4ec5\u8981\u8003\u8651\u68c0\u6d4b\u8d39\u7528\uff0c\u8fd8\u5e94\u7eb3\u5165\u9057\u4f20\u54a8\u8be2\u4e0e\u786e\u8bca\u68c0\u6d4b\u7684\u8d39\u7528\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%80%89%E6%8B%A9_NIPT_%E6%A3%80%E6%B5%8B%E7%9A%84%E8%A6%81%E7%82%B9\"><\/span>12. \u9009\u62e9 NIPT \u68c0\u6d4b\u7684\u8981\u70b9<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u660e\u786e\u76ee\u7684\uff1a\u5982\u679c\u53ea\u60f3\u68c0\u6d4b\u4e3b\u8981\u4e09\u4f53\uff0c\u6216\u5e0c\u671b\u4e86\u89e3\u5fae\u5c0f\u67d3\u8272\u4f53\u5f02\u5e38\uff0c\u4e24\u8005\u9009\u62e9\u4e0d\u540c<\/li>\n\n\n\n<li>\u7406\u89e3\u68c0\u6d4b\u7cbe\u5ea6\uff1a21 \u4e09\u4f53\u7684\u7cbe\u5ea6\u9ad8\uff0c\u6027\u67d3\u8272\u4f53\u5f02\u5e38\u4e0e\u5fae\u5c0f\u5f02\u5e38\u7cbe\u5ea6\u8f83\u4f4e<\/li>\n\n\n\n<li>\u63a5\u53d7\u9057\u4f20\u54a8\u8be2\uff1a\u4e3a\u5e94\u5bf9\u68c0\u6d4b\u524d\u540e\u7684\u5fc3\u7406\u8d1f\u62c5\u4e0e\u672a\u6765\u533b\u7597\u9009\u62e9\u505a\u597d\u51c6\u5907<\/li>\n\n\n\n<li>\u4e3a\u786e\u8bca\u505a\u51c6\u5907\uff1a\u82e5\u7ed3\u679c\u4e3a\u9633\u6027\uff0c\u8981\u7406\u89e3\u9700\u901a\u8fc7\u7f8a\u6c34\u6216\u7ed2\u6bdb\u53d6\u6837\u505a\u786e\u8bca<\/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_%E7%BB%93%E8%AF%AD\"><\/span>13. \u7ed3\u8bed<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\u5bf9\u6bcd\u4f53\u4e0e\u80ce\u513f\u51e0\u4e4e\u65e0\u98ce\u9669\u3001\u53ef\u9ad8\u7cbe\u5ea6\u7b5b\u67e5\u4e3b\u8981\u67d3\u8272\u4f53\u5f02\u5e38\u7684\u9769\u547d\u6027\u68c0\u6d4b\u65b9\u6cd5\u3002\u8fd1\u5e74\u6765\uff0c\u5176\u80fd\u68c0\u6d4b\u7684\u5f02\u5e38\u7c7b\u578b\u6269\u5c55\u5230\u6027\u67d3\u8272\u4f53\u5f02\u5e38\u53ca\u5fae\u5c0f\u67d3\u8272\u4f53\u5f02\u5e38\uff0c\u4e30\u5bcc\u4e86\u4ea7\u524d\u8bca\u65ad\u7684\u53ef\u9009\u8303\u56f4\u3002\u7136\u800c <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> \u4ec5\u4e3a\u4e00\u79cd\u7b5b\u67e5\u624b\u6bb5\uff0c\u9633\u6027\u7ed3\u679c\u5e76\u4e0d\u7b49\u540c\u4e8e\u786e\u8bca\u3002\u63a5\u53d7\u68c0\u6d4b\u524d\u540e\u52a1\u5fc5\u8fdb\u884c\u9057\u4f20\u54a8\u8be2\uff0c\u5145\u5206\u7406\u89e3\u68c0\u6d4b\u7684\u5c40\u9650\u4e0e\u672a\u6765\u53ef\u80fd\u7684\u533b\u7597\u8def\u5f84\u3002\u53ea\u6709\u5728\u638c\u63e1\u51c6\u786e\u4fe1\u606f\u7684\u57fa\u7840\u4e0a\u63a5\u53d7\u68c0\u6d4b\uff0c\u624d\u80fd\u5b89\u5fc3\u5730\u8fdb\u884c\u598a\u5a20\u7ba1\u7406\u4e0e\u4ea7\u524d\u5224\u65ad\u3002<\/p>\n\n\n\n<p><\/p>\n","protected":false},"excerpt":{"rendered":"\u5f15\u8a00 \u4f5c\u4e3a\u598a\u5a20\u671f\u7684\u4ea7\u524d\u8bca\u65ad\u624b\u6bb5\u4e4b\u4e00\uff0cNI&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-chromosome-abnormality\/?lang=zh-hans\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":122,"featured_media":116068,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[14],"tags":[],"class_list":["post-116077","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\/116077","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=116077"}],"version-history":[{"count":2,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/116077\/revisions"}],"predecessor-version":[{"id":116084,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/116077\/revisions\/116084"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/116068"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=116077"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=116077"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=116077"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}