{"id":140361,"date":"2019-04-30T05:42:31","date_gmt":"2019-04-30T05:42:31","guid":{"rendered":"https:\/\/labinsights.com\/acf_article\/%e9%9d%9e%e4%be%b5%e5%85%a5%e6%80%a7%e7%94%a2%e5%89%8d%e6%aa%a2%e6%b8%ac%e6%8a%80%e8%a1%93%e7%9a%84%e7%99%bc%e5%b1%95\/"},"modified":"2026-01-19T07:41:56","modified_gmt":"2026-01-19T07:41:56","slug":"the-evolution-of-non-invasive-prenatal-test-technologies","status":"publish","type":"acf_article","link":"https:\/\/labinsights.com\/zhtw\/operations\/sequencing\/the-evolution-of-non-invasive-prenatal-test-technologies\/","title":{"rendered":"\u975e\u4fb5\u5165\u6027\u7522\u524d\u6aa2\u6e2c\u6280\u8853\u7684\u767c\u5c55"},"content":{"rendered":"

\u7522\u524d\u6aa2\u67e5\u901a\u5e38\u662f\u4e00\u4ef6\u4ee4\u4eba\u9ad8\u8208\u7684\u4e8b\uff0c\u4f46\u8a31\u591a\u5973\u6027\u4ecd\u7136\u6703\u611f\u5230\u7126\u616e\uff0c\u56e0\u70ba\u6bcf\u6b21\u61f7\u5b55\u90fd\u5b58\u5728\u67d3\u8272\u9ad4\u7570\u5e38\u7684\u98a8\u96aa\u3002\u5e78\u904b\u7684\u662f\uff0c\u975e\u4fb5\u5165\u6027\u7522\u524d\u6aa2\u6e2c\u6280\u8853\uff08NIPT\uff09\u7684\u9032\u6b65\u4f7f\u5f97\u6aa2\u6e2c\u904e\u7a0b\u6bd4\u4ee5\u5f80\u4efb\u4f55\u6642\u5019\u90fd\u66f4\u52a0\u4fbf\u6377\u53ef\u9760\u3002<\/p>\n

\u7528\u65bcNIPT\u7684cfDNA\u5206\u6790\u7684\u8208\u8d77\u81ea1990\u5e74\u4ee3\u63a8\u51fa\u4ee5\u4f86<\/h2>\n

\uff0c\u598a\u5a20\u7b2c\u4e00\u671f\u806f\u5408\u7be9\u6aa2\u6e2c\u8a66(FTS)\u5df2\u6210\u70ba\u7522\u524d\u6e2c\u8a66\u7684\u5e38\u7528\u65b9\u6cd5\u3002\u9019\u7a2e\u65b9\u6cd5\u4f9d\u8cf4\u65bc\u8840\u6e05\u751f\u7269\u5316\u5b78\u548c\u80ce\u5152\u9838\u90e8\u534a\u900f\u660e\u6027\u7684\u7d44\u5408\uff0c\u901a\u5e38\u5728\u598a\u5a2011\u81f313\u9031\u4e4b\u9593\u3002\u5b83\u53ef\u9760\u5730\u7be9\u6aa2[1]\u00a0\u5e38\u898b\u7684\u67d3\u8272\u9ad4\u7570\u5e38\uff0c\u4f8b\u5982\u5510\u6c0f\u75c7\u5019\u7fa4\uff0821-\u4e09\u9ad4\u75c7\u5019\u7fa4\uff09\u548c\u827e\u5fb7\u83ef\u6c0f\u75c7\u5019\u7fa4\uff0818-\u4e09\u9ad4\u75c7\u5019\u7fa4\uff09\u3002\u64da\u6cf0\u570bSiriraj\u91ab\u9662\u5a66\u7522\u79d1Tachjaree Panchalee\u91ab\u5e2b\u65bc2018\u5e74NIPT Forum Asia\u4e0a\u8868\u793a\uff0cFTS\u662f\u4e00\u9805\u5049\u5927\u7684\u8cc7\u7522\uff0c\u4f46\u5b83\u4f34\u96a8\u8457\u9ad8\u5047\u967d\u6027\u548c\u4f4e\u967d\u6027\u9810\u6e2c\u503c\u3002\u00a0FTS\u5df2\u88ab\u8b49\u660e\u9054\u523084-90%\u7684\u5075\u6e2c\u7387\uff0c\u5176\u4e2d\u5047\u967d\u6027\u7387\u70ba5% [2]\uff0c\u9019\u6bd4\u6c92\u6709\u66f4\u597d\uff0c\u4f46\u80af\u5b9a\u662f\u6b21\u512a\u3002\u7136\u800c\uff0c\u81ea2011\u5e74\u4ee5\u4f86\uff0c\u51fa\u73fe\u4e86\u6311\u6230FTS\u7684\u65b0\u65b9\u6cd5\u3002\u9019\u4e9b\u65b9\u6cd5\u57fa\u65bc\u7121\u7d30\u80deDNA (cfDNA)\u5206\u6790\u5c0d\u80ce\u5152\u9032\u884c\u975e\u4fb5\u5165\u6027\u67d3\u8272\u9ad4\u7570\u5e38\u7be9\u6aa2\u3002\u9999\u6e2f\u4e2d\u6587\u5927\u5b78\u5a66\u7522\u79d1\u5b78\u7cfbLiona Poon\u6559\u6388\u00a0\u5728\u540c\u4e00\u5834\u5408\u8868\u793a\uff1a\u300cFTS\u5df2\u88ab\u7121\u7d30\u80deDNA\u6aa2\u6e2c\u53d6\u4ee3\u3002\u300d\u80ce\u76e4DNA\u7247\u6bb5\u5e73\u5747\u4f54\u6bcd\u9ad4\u8840\u6db2\u4e2d\u7e3dcfDNA\u768413% [3]\u3002\u65e9\u5728\u598a\u5a20\u7b2c32\u5929\u7684\u6bcd\u9ad4\u8840\u6db2\u4e2d\u5373\u53ef\u767c\u73fe150\u81f3200\u500b\u9e7c\u57fa\u5c0d\u7684\u80ce\u5152DNA\u7247\u6bb5[4]\u00a0\u00a0\uff0c\u4e26\u96a8\u6642\u9593\u589e\u52a0[5]\u3002\u9019\u4e9b\u788e\u7247\u6700\u65e9\u5728\u5206\u5a29\u5f8c\u5169\u5c0f\u6642\u5373\u5f9e\u6bcd\u9ad4\u8840\u6db2\u4e2d\u6d88\u5931[3]\u3002\u5206\u6790\u6bcd\u9ad4\u53ca\u80ce\u5152cfDNA\u5141\u8a31\u5be6\u9a57\u5ba4\u91ab\u5b78\u5c08\u5bb6\u975e\u4fb5\u5165\u6027\u5730\u4e14\u6e96\u78ba\u5730\u8a55\u4f30\u80ce\u5152\u7684\u67d3\u8272\u9ad4\u7570\u5e38\u3002\u7cbe\u901acfDNA\u5206\u6790\u7684\u5be6\u9a57\u5ba4\u5c07\u8655\u65bc\u65b0\u61c9\u7528\u7684\u6700\u524d\u6cbf\uff0c\u4e26\u80fd\u5920\u5728\u66f2\u7dda\u51fa\u73fe\u4e4b\u524d\u70ba\u5408\u4f5c\u5925\u4f34\u7684\u7522\u79d1\u91ab\u5e2b\u589e\u52a0\u50f9\u503c\u3002\u96a8\u8457\u5c0d\u4e0d\u65b7\u6210\u9577\u7684\u7d93\u9a57\u8b49\u7684\u53c3\u8003\u6587\u5eab\u7684\u8a2a\u554f\uff0ccfDNA\u6e2c\u8a66\u7684\u61c9\u7528\u5c07\u4f86\u53ef\u80fd\u6703\u64f4\u5c55\u5230\u5176\u4ed6\u67d3\u8272\u9ad4\u7570\u5e38\u3002Panchalee\u91ab\u5e2b\u88dc\u5145\u8aaa\uff1a\u300c\u5065\u5eb7\u7167\u8b77\u63d0\u4f9b\u8005\u6709\u8cac\u4efb\u53ca\u6642\u66f4\u65b0\u53ef\u7528\u7684\u7be9\u6aa2\u5de5\u5177\uff0c\u56e0\u70ba\u6bcf\u4f4d\u5973\u6027\u90fd\u6709\u6b0a\u505a\u51fa\u81ea\u5df1\u7684\u9078\u64c7\u3002\u300d<\/p>\n

cfDNA\u65b9\u6cd5<\/h2>\n

\u8207\u4efb\u4f55\u65b0\u767c\u73fe\u4e00\u6a23\uff0cNIPT\u7684\u8a31\u591a\u65b9\u6cd5\u90fd\u5728\u722d\u596a\u91d1\u6a19\u6e96\u72c0\u614b\u3002\u9019\u4e9b\u7bc4\u570d\u5f9e\u5168\u57fa\u56e0\u9ad4\u548c\u7279\u7570\u6027\u67d3\u8272\u9ad4\u5b9a\u5e8f\u5230\u57fa\u65bc\u5fae\u6e2c\u5b9a\u7684\u5e73\u53f0\u3002\u6240\u4f7f\u7528\u4e4b\u6700\u65e9\u6280\u8853\u4e4b\u4e00\u70ba\u5927\u898f\u6a21\u5e73\u884c\uff08\u300c\u9730\u5f48\u69cd\u300d\uff09\u5b9a\u5e8f\u3002\u8a72\u65b9\u6cd5\u4e0d\u9776\u5411\u6240\u95dc\u6ce8\u5340\u57df\uff0c\u800c\u662f\u8a55\u4f30\u6bcd\u9ad4\u8840\u6f3f\u4e2d\u5b58\u5728\u4e4b\u6240\u6709cfDNA\u7247\u6bb5\u7684\u5168\u57fa\u56e0\u9ad4\u3002\u5728\u5168\u57fa\u56e0\u9ad4\u5b9a\u5e8f[6]\u4e2d\uff0c\u6578\u5343\u842c\u500b\u5e8f\u5217\u8b80\u6578\u88ab\u6bd4\u5c0d\u4e26\u5c0d\u6620\u5230\u4eba\u985e\u53c3\u8003\u6587\u5eab\uff0c\u4ee5\u5c07\u7372\u5f97\u7684\u8cc7\u6599\u8207\u8d77\u6e90\u67d3\u8272\u9ad4\u76f8\u5339\u914d\u3002\u7136\u5f8c\u5c0d\u5c0d\u6620\u7684\u8cc7\u6599\u9032\u884c\u8a08\u6578\u4ee5\u78ba\u5b9a\u80ce\u5152\u662f\u5426\u651c\u5e36\u67d3\u8272\u9ad4\u7570\u5e38\u3002<\/p>\n

\"1\"
\u5927\u898f\u6a21\u5e73\u884c\u5b9a\u5e8f\u8a55\u4f30\u6bcd\u9ad4\u8840\u6db2\u4e2d\u6240\u00a0\u6709cfDNA\u4e4b\u5168\u57fa\u56e0\u9ad4<\/figcaption><\/figure>\n

\u300c\u900f\u904e\u5927\u898f\u6a21\u5e73\u884c\u5b9a\u5e8f\uff0c\u6bcf\u500b\u6a23\u54c1\u9700\u8981\u7d042500\u842c\u500b\u539f\u59cb\u5b9a\u5e8f\u6e05\u55ae[7]\u4ee5\u7522\u751f\u8db3\u5920\u7684\u8cc7\u6599\u7528\u65bc\u6e96\u78ba\u5206\u6790\u6240\u95dc\u6ce8\u5340\u57df\uff0c\u300dPanchalee\u91ab\u5e2b\u00a0\u8868\u793a\u3002\u00a0\u300c\u9451\u65bc\u5177\u6709\u81e8\u5e8a\u610f\u7fa9\u7684\u67d3\u8272\u9ad4\u50c5\u4f54\u57fa\u56e0\u9ad4\u768414% [7]\uff0c\u9019\u7a2e\u65b9\u6cd5\u4ee3\u8868\u4e86\u5de8\u5927\u7684\u5197\u9918\u3002\u300d\u8f03\u65b0\u7684\u6280\u8853\u6b63\u5728\u51fa\u73fe\uff0c\u5305\u62ec\u534a\u5c0e\u9ad4\u5b9a\u5e8f\u6280\u8853\uff0c\u8af8\u5982\u96e2\u5b50\u6d41\u5e73\u53f0\u3002\u96d6\u7136\u5b58\u5728\u8a31\u591a\u5e73\u53f0\uff0c\u4f46\u5728\u6bd4\u8f03\u5169\u7a2e\u6b64\u985e\u6280\u8853\u6642\uff0c\u7814\u7a76\u4eba\u54e1\u767c\u73fe[8]\u5b9a\u5e8f\u7684\u6578\u91cf\u4ee5\u53ca\u61c9\u7528\u901a\u7528\u4e14\u7a69\u5065\u7684\u7d71\u8a08\u5206\u6790\u5c0d\u65bc\u78ba\u4fdd\u6e96\u78ba\u7684\u7d50\u679c\u4f4d\u5143\u5b9a\u5e8f\u5316\u5b78\u6216\u5e73\u53f0\u66f4\u91cd\u8981\u3002\u6700\u8fd1\uff0c\u5fae\u9663\u5217\u5206\u6790\u5df2\u88ab\u8abf\u6574\u7528\u65bccfDNA\u6e2c\u8a66\u3002\u85c9\u6b64\uff0c\u53ef\u5c0d\u9078\u5b9a\u5340\u57df\u9032\u884c\u7279\u5b9a\u67d3\u8272\u9ad4\u7570\u5e38\uff08\u5305\u62ec21\u300118\u300113\u4e09\u9ad4\u4ee5\u53ca\u6027\u67d3\u8272\u9ad4\u975e\u6574\u500d\u6027\uff09\u7684\u6578\u4f4d\u5206\u6790\u3002<\/p>\n

\"2\"
\u5fae\u9663\u5217\u5206\u6790\u8207\u5b9a\u5e8f\u4ee5\u6aa2\u6e2c\u9078\u5b9a\u5340\u57df\u7684\u6578\u4f4d\u5206\u6790<\/figcaption><\/figure>\n

\u5728\u5229\u7528\u6b21\u4e16\u4ee3\u5b9a\u5e8f(NGS)\u7684\u982d\u5c0d\u982d\u5206\u6790\u4e2d\uff0c\u5df2\u767c\u73fe\u5fae\u9663\u5217\u5206\u6790\u6bd4NGS\u7522\u751f\u66f4\u5feb\u4e14\u66f4\u7cbe\u78ba\u7684[9]\u00a0cfDNA\u5206\u6790\u3002\u5728\u6bcf\u500b\u5b50\u9663\u5217\u4e2d\u4ee5\u55ae\u91cd\u65b9\u5f0f\u5206\u6790\u6bcf\u500b\u6a23\u54c1\uff0c\u5f9e\u800c\u5efa\u7acb\u7c21\u55ae\u4e14\u5177\u6709\u6210\u672c\u6548\u76ca\u7684\u65b9\u6cd5\u4f86\u5206\u6790\u6a23\u672c\u3002\u8a72\u65b9\u6cd5\u5df2\u5728\u5404\u7a2e\u7522\u79d1\u4eba\u7fa4\u7684\u524d\u77bb\u6027\u81e8\u5e8a\u8a66\u9a57\u4e2d\u5f97\u5230\u5ee3\u6cdb\u9a57\u8b49\u3002Panchalee\u535a\u58eb\u78ba\u8a8d\uff1a\u300c\u8a72\u7cfb\u7d71\u7684\u5167\u90e8\u9a57\u8b49\u8b49\u660e\u4e86\u9ad8\u6e96\u78ba\u5ea6\u548c\u7279\u7570\u6027\uff0c\u6c92\u6709\u507d\u967d\u6027\u6216\u507d\u9670\u6027\u3002\u300d\u51fa\u73fe\u7684\u6700\u65b0\u6280\u8853\u662f\u4e00\u500b\u516d\u6b65\u904e\u7a0b\uff0c\u5c0d\u55ae\u500bDNA\u5206\u5b50\u9032\u884c\u6210\u50cf[10]\uff0c\u964d\u4f4ecfDNA\u6e2c\u5b9a\u7684\u8907\u96dc\u6027\u3002\u5b83\u7d50\u5408\u4e86\u65b0\u578b\u5206\u5b50\u63a2\u91dd\u6280\u8853\uff0c\u5229\u7528\u5948\u7c73\u904e\u6ffe\u5668\u4ee5\u65b0\u7684\u8b80\u53d6\u683c\u5f0f\u6a19\u8a18\u6a19\u9776\u67d3\u8272\u9ad4\u3002\u9019\u5141\u8a31\u5728\u6c92\u6709DNA\u64f4\u589e\u5fae\u9663\u5217\u6216\u5b9a\u5e8f\u7684\u60c5\u6cc1\u4e0b\u5bcc\u96c6\u7528\u65bc\u6210\u50cf\u53ca\u8a08\u6578\u7684\u55ae\u4e00\u5206\u5b50\u3002\u8fc4\u4eca\u70ba\u6b62\uff0c\u8207NGS\u6216\u5fae\u9663\u5217\u4e0d\u540c\uff0c\u8a72\u6280\u8853\u5c1a\u672a\u5728\u524d\u77bb\u6027\u81e8\u5e8a\u7814\u7a76\u4e2d\u5f97\u5230\u5ee3\u6cdb\u9a57\u8b49\u3002<\/p>\n

cfDNA\u7684\u6f5b\u5728\u5f71\u97ff\u662f\u4ec0\u9ebc\uff1f<\/h2>\n

cfDNA\u6aa2\u6e2c\u50c5\u5728\u9ad8\u6216\u4e2d\u7b49\u98a8\u96aa\u598a\u5a20\u4e2d\u9032\u884c\uff0c\u5176\u5df2\u7d93\u6539\u8b8a\u5973\u6027\u7684\u9078\u64c7\uff0c\u4e26\u6e1b\u5c11\u8207\u6d41\u7522\u98a8\u96aa\u548c\u7126\u616e\u76f8\u95dc\u7684\u624b\u8853\u7a0b\u5e8f\u3002\u9999\u6e2f\u4e00\u9805\u91dd\u5c0d\u5b55\u5a66\u7684\u7814\u7a76[11]\u767c\u73fe\uff0c\u81ea\u5f9e\u5f15\u5165cfDNA\u6aa2\u6e2c\u4ee5\u4f86\uff0c\u4fb5\u5165\u6027\u6aa2\u6e2c\u7387\u986f\u8457\u4e0b\u964d\u3002\u80fd\u5920\u70ba\u7522\u79d1\u91ab\u751f\u63d0\u4f9b\u53e6\u4e00\u7a2e\u975e\u4fb5\u5165\u6027\u6aa2\u6e2c\u65b9\u6cd5\u7684\u5be6\u9a57\u5ba4\uff0c\u5c07\u4f7f\u5b55\u5a66\u80fd\u5920\u66f4\u679c\u65b7\u5730\u505a\u51fa\u660e\u667a\u7684\u6c7a\u5b9a\uff0c\u4e26\u6700\u7d42\u907f\u514d\u4e0d\u5fc5\u8981\u7684\u4fb5\u5165\u6027\u624b\u8853\u3002<\/p>\n

\u53c3\u8003\u6587\u737b\uff1a<\/em><\/p>\n

[1]<\/a> Malone, D.F., et al., (2005).\u5510\u6c0f\u75c7\u5019\u7fa4\u7684\u598a\u5a20\u7b2c\u4e00\u671f\u6216\u598a\u5a20\u7b2c\u4e8c\u671f\u7be9\u67e5\uff0c\u6216\u5169\u8005\u7686\u6709\u3002The New England Journal of Medicine. 353(19), pp.2001-2011. [2]<\/a>\u00a0Li, S.W., et al., (2015).The assessment of combined first trimester screening in women of advanced maternal age in an Asian cohort.\u00a0Singapore medical journal,\u00a056(1), pp.47\u201352. [3]\u00a0<\/a>Kotsopoulou, I., et al., (2015).Non-invasive prenatal testing (NIPT): limitations on the way to become diagnosis,\u00a0Diagnosis,\u00a02(3), pp.141-158. [4]<\/a>\u00a0Taglauer, E.S., et al., (2014).Review: cell-free fetal DNA in the maternal circulation as an indication of placental health and disease.\u00a0Placenta,\u00a035 Suppl(Suppl), S64\u2013S68. [5]<\/a> Wataganara, T., et al., (2004).Cell-free fetal DNA levels in maternal plasma after elective first-trimester termination of pregnancy.Fertility and Sterility,\u00a081(3), pp.638-644. [6]\u00a0<\/a>Swanson, A., et al.,\u00a0(2013).Non-invasive Prenatal Testing: Technologies, Clinical Assays and Implementation Strategies for Women’s Healthcare Practitioners.\u00a0Current genetic medicine reports,\u00a01(2), pp.113\u2013121. [7]\u00a0<\/a>Norwitz, E.R., & Levy, B.(2013).Noninvasive prenatal testing: the future is now.\u00a0Reviews in obstetrics & gynecology,\u00a06(2), pp.48\u201362. [8]\u00a0<\/a>Kim, S., et L.,\u00a0(2016).Comparison of two high-throughput semiconductor chip sequencing platforms in noninvasive prenatal testing for Down syndrome in early pregnancy.\u00a0BMC medical genomics,\u00a09(1),\u00a0pp.22. [9]<\/a> Juneau, K., et al., (2014).Microarray-Based Cell-Free DNA Analysis Improved Noninvasive Prenatal Testing.Fetal Diagnosis and Therapy, 36, pp.282-286. [10]<\/a> Dahl, F., et al., (2018).Imaging single DNA molecules for high precision NIPT.Scientific Reports, 8, 4549. [11]<\/a> Cheng YKY., eet al., (2018).\u00a0\u00a0Women\u2019s preference for non-invasive prenatal DNA testing versus chromosomal microarray after screening for Down syndrome: a prospective study.BJOG, 125, pp.451\u2013459.<\/p>\n

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\u672c\u6587\u4f9d2018\u5e74\u6cf0\u570b\u66fc\u8c37NIPT Forum Asia\u767c\u8868\u4e4b\u6f14\u8b1b\uff1a\u300c\u81e8\u5e8a\u76f8\u95dcNIPT\u6280\u8853\u4e4b\u767c\u5c55\u300d\u548c\u300ccfDNA\u6aa2\u6e2c\u7684\u66f4\u65b0\u8b49\u64da\u548c\u5be6\u65bd\u6a21\u578b\u300d\u4f5c\u6210\u3002<\/em><\/p>\n

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Asia\u4e0a\u8868\u793a\uff0cFTS\u662f\u4e00\u9805\u5049\u5927\u7684\u8cc7\u7522\uff0c\u4f46\u5b83\u4f34\u96a8\u8457\u9ad8\u5047\u967d\u6027\u548c\u4f4e\u967d\u6027\u9810\u6e2c\u503c\u3002\u00a0FTS\u5df2\u88ab\u8b49\u660e\u9054\u523084-90%\u7684\u5075\u6e2c\u7387\uff0c\u5176\u4e2d\u5047\u967d\u6027\u7387\u70ba5% [2]\uff0c\u9019\u6bd4\u6c92\u6709\u66f4\u597d\uff0c\u4f46\u80af\u5b9a\u662f\u6b21\u512a\u3002\u7136\u800c\uff0c\u81ea2011\u5e74\u4ee5\u4f86\uff0c\u51fa\u73fe\u4e86\u6311\u6230FTS\u7684\u65b0\u65b9\u6cd5\u3002\u9019\u4e9b\u65b9\u6cd5\u57fa\u65bc\u7121\u7d30\u80deDNA (cfDNA)\u5206\u6790\u5c0d\u80ce\u5152\u9032\u884c\u975e\u4fb5\u5165\u6027\u67d3\u8272\u9ad4\u7570\u5e38\u7be9\u6aa2\u3002\u9999\u6e2f\u4e2d\u6587\u5927\u5b78\u5a66\u7522\u79d1\u5b78\u7cfbLiona Poon\u6559\u6388\u00a0\u5728\u540c\u4e00\u5834\u5408\u8868\u793a\uff1a\u300cFTS\u5df2\u88ab\u7121\u7d30\u80deDNA\u6aa2\u6e2c\u53d6\u4ee3\u3002\u300d\u80ce\u76e4DNA\u7247\u6bb5\u5e73\u5747\u4f54\u6bcd\u9ad4\u8840\u6db2\u4e2d\u7e3dcfDNA\u768413% [3]\u3002\u65e9\u5728\u598a\u5a20\u7b2c32\u5929\u7684\u6bcd\u9ad4\u8840\u6db2\u4e2d\u5373\u53ef\u767c\u73fe150\u81f3200\u500b\u9e7c\u57fa\u5c0d\u7684\u80ce\u5152DNA\u7247\u6bb5[4]\u00a0\u00a0\uff0c\u4e26\u96a8\u6642\u9593\u589e\u52a0[5]\u3002\u9019\u4e9b\u788e\u7247\u6700\u65e9\u5728\u5206\u5a29\u5f8c\u5169\u5c0f\u6642\u5373\u5f9e\u6bcd\u9ad4\u8840\u6db2\u4e2d\u6d88\u5931[3]\u3002\u5206\u6790\u6bcd\u9ad4\u53ca\u80ce\u5152cfDNA\u5141\u8a31\u5be6\u9a57\u5ba4\u91ab\u5b78\u5c08\u5bb6\u975e\u4fb5\u5165\u6027\u5730\u4e14\u6e96\u78ba\u5730\u8a55\u4f30\u80ce\u5152\u7684\u67d3\u8272\u9ad4\u7570\u5e38\u3002\u7cbe\u901acfDNA\u5206\u6790\u7684\u5be6\u9a57\u5ba4\u5c07\u8655\u65bc\u65b0\u61c9\u7528\u7684\u6700\u524d\u6cbf\uff0c\u4e26\u80fd\u5920\u5728\u66f2\u7dda\u51fa\u73fe\u4e4b\u524d\u70ba\u5408\u4f5c\u5925\u4f34\u7684\u7522\u79d1\u91ab\u5e2b\u589e\u52a0\u50f9\u503c\u3002\u96a8\u8457\u5c0d\u4e0d\u65b7\u6210\u9577\u7684\u7d93\u9a57\u8b49\u7684\u53c3\u8003\u6587\u5eab\u7684\u8a2a\u554f\uff0ccfDNA\u6e2c\u8a66\u7684\u61c9\u7528\u5c07\u4f86\u53ef\u80fd\u6703\u64f4\u5c55\u5230\u5176\u4ed6\u67d3\u8272\u9ad4\u7570\u5e38\u3002Panchalee\u91ab\u5e2b\u88dc\u5145\u8aaa\uff1a\u300c\u5065\u5eb7\u7167\u8b77\u63d0\u4f9b\u8005\u6709\u8cac\u4efb\u53ca\u6642\u66f4\u65b0\u53ef\u7528\u7684\u7be9\u6aa2\u5de5\u5177\uff0c\u56e0\u70ba\u6bcf\u4f4d\u5973\u6027\u90fd\u6709\u6b0a\u505a\u51fa\u81ea\u5df1\u7684\u9078\u64c7\u3002\u300d cfDNA\u65b9\u6cd5 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\u300c\u900f\u904e\u5927\u898f\u6a21\u5e73\u884c\u5b9a\u5e8f\uff0c\u6bcf\u500b\u6a23\u54c1\u9700\u8981\u7d042500\u842c\u500b\u539f\u59cb\u5b9a\u5e8f\u6e05\u55ae[7]\u4ee5\u7522\u751f\u8db3\u5920\u7684\u8cc7\u6599\u7528\u65bc\u6e96\u78ba\u5206\u6790\u6240\u95dc\u6ce8\u5340\u57df\uff0c\u300dPanchalee\u91ab\u5e2b\u00a0\u8868\u793a\u3002\u00a0\u300c\u9451\u65bc\u5177\u6709\u81e8\u5e8a\u610f\u7fa9\u7684\u67d3\u8272\u9ad4\u50c5\u4f54\u57fa\u56e0\u9ad4\u768414% 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cfDNA\u7684\u6f5b\u5728\u5f71\u97ff\u662f\u4ec0\u9ebc\uff1f cfDNA\u6aa2\u6e2c\u50c5\u5728\u9ad8\u6216\u4e2d\u7b49\u98a8\u96aa\u598a\u5a20\u4e2d\u9032\u884c\uff0c\u5176\u5df2\u7d93\u6539\u8b8a\u5973\u6027\u7684\u9078\u64c7\uff0c\u4e26\u6e1b\u5c11\u8207\u6d41\u7522\u98a8\u96aa\u548c\u7126\u616e\u76f8\u95dc\u7684\u624b\u8853\u7a0b\u5e8f\u3002\u9999\u6e2f\u4e00\u9805\u91dd\u5c0d\u5b55\u5a66\u7684\u7814\u7a76[11]\u767c\u73fe\uff0c\u81ea\u5f9e\u5f15\u5165cfDNA\u6aa2\u6e2c\u4ee5\u4f86\uff0c\u4fb5\u5165\u6027\u6aa2\u6e2c\u7387\u986f\u8457\u4e0b\u964d\u3002\u80fd\u5920\u70ba\u7522\u79d1\u91ab\u751f\u63d0\u4f9b\u53e6\u4e00\u7a2e\u975e\u4fb5\u5165\u6027\u6aa2\u6e2c\u65b9\u6cd5\u7684\u5be6\u9a57\u5ba4\uff0c\u5c07\u4f7f\u5b55\u5a66\u80fd\u5920\u66f4\u679c\u65b7\u5730\u505a\u51fa\u660e\u667a\u7684\u6c7a\u5b9a\uff0c\u4e26\u6700\u7d42\u907f\u514d\u4e0d\u5fc5\u8981\u7684\u4fb5\u5165\u6027\u624b\u8853\u3002 \u53c3\u8003\u6587\u737b\uff1a [1] Malone, D.F., et al., (2005).\u5510\u6c0f\u75c7\u5019\u7fa4\u7684\u598a\u5a20\u7b2c\u4e00\u671f\u6216\u598a\u5a20\u7b2c\u4e8c\u671f\u7be9\u67e5\uff0c\u6216\u5169\u8005\u7686\u6709\u3002The New England Journal of Medicine. 353(19), pp.2001-2011. [2]\u00a0Li, S.W., et al., (2015).The assessment of combined first trimester screening in women of advanced maternal age in an Asian cohort.\u00a0Singapore medical journal,\u00a056(1), pp.47\u201352. 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