{"id":140244,"date":"2019-04-30T05:42:31","date_gmt":"2019-04-30T05:42:31","guid":{"rendered":"https:\/\/labinsights.com\/acf_article\/%e6%97%a0%e5%88%9b%e4%ba%a7%e5%89%8d%e6%a3%80%e6%9f%a5%e6%8a%80%e6%9c%af%e7%9a%84%e6%bc%94%e8%bf%9b\/"},"modified":"2026-01-21T12:20:47","modified_gmt":"2026-01-21T12:20:47","slug":"the-evolution-of-non-invasive-prenatal-test-technologies","status":"publish","type":"acf_article","link":"https:\/\/labinsights.com\/zhcn\/operations\/sequencing\/the-evolution-of-non-invasive-prenatal-test-technologies\/","title":{"rendered":"\u65e0\u521b\u4ea7\u524d\u68c0\u67e5\u6280\u672f\u7684\u6f14\u8fdb"},"content":{"rendered":"

\u4ea7\u68c0\u901a\u5e38\u662f\u4ee4\u4eba\u6b23\u559c\u7684\u65f6\u523b\uff0c\u4f46\u8bb8\u591a\u5b55\u5987\u4ecd\u4f1a\u611f\u5230\u7126\u8651\uff0c\u56e0\u4e3a\u6bcf\u6b21\u598a\u5a20\u90fd\u5b58\u5728\u67d3\u8272\u4f53\u5f02\u5e38\u7684\u98ce\u9669\u3002\u6240\u5e78\u65e0\u521b\u4ea7\u524d\u68c0\u6d4b\u6280\u672f\uff08NIPT\uff09\u7684\u8fdb\u6b65\uff0c\u4f7f\u5f97\u68c0\u6d4b\u8fc7\u7a0b\u6bd4\u4ee5\u5f80\u66f4\u52a0\u4fbf\u6377\u53ef\u9760\u3002<\/p>\n

\u57fa\u4e8ecfDNA\u5206\u6790\u7684NIPT\u6280\u672f\u5174\u8d77<\/h2>\n

\u81ea20\u4e16\u7eaa90\u5e74\u4ee3\u95ee\u4e16\u4ee5\u6765\uff0c\u5b55\u65e9\u671f\u8054\u5408\u7b5b\u68c0\uff08FTS\uff09\u4e00\u76f4\u662f\u4ea7\u524d\u68c0\u6d4b\u7684\u5e38\u89c4\u624b\u6bb5\u3002\u8be5\u65b9\u6cd5\u7ed3\u5408\u8840\u6e05\u751f\u5316\u68c0\u6d4b\u4e0e\u00a0\u80ce\u513f\u9888\u9879\u900f\u660e\u5c42\u626b\u63cf\uff0c\u901a\u5e38\u5728\u598a\u5a2011\u81f313\u5468\u8fdb\u884c\u3002\u5b83\u80fd\u53ef\u9760\u7b5b\u67e5[1]\u00a0\u5510\u6c0f\u7efc\u5408\u5f81\uff0821\u4e09\u4f53\uff09\u548c\u7231\u5fb7\u534e\u6c0f\u7efc\u5408\u5f81\uff0818\u4e09\u4f53\uff09\u7b49\u5e38\u89c1\u67d3\u8272\u4f53\u5f02\u5e38\u3002\u6cf0\u56fdSiriraj\u533b\u9662\u5987\u4ea7\u79d1\u533b\u751fTachjaree Panchalee\u535a\u58eb\u57282018\u5e74\u4e9a\u6d32NIPT\u8bba\u575b\u6307\u51fa\uff0c\u00a0FTS\u867d\u5177\u91cd\u8981\u4ef7\u503c\uff0c\u4f46\u5b58\u5728\u5047\u9633\u6027\u7387\u9ad8\u3001\u9633\u6027\u9884\u6d4b\u503c\u4f4e\u7684\u7f3a\u9677\u3002\u00a0\u7814\u7a76\u663e\u793aFTS\u68c0\u51fa\u7387\u4e3a84-90%\uff0c\u5047\u9633\u6027\u7387\u8fbe5%[2]\uff0c\u867d\u4f18\u4e8e\u65e0\u7b5b\u67e5\uff0c\u4f46\u8fdc\u975e\u7406\u60f3\u65b9\u6848\u30022011\u5e74\u4ee5\u6765\uff0c\u65b0\u6280\u672f\u5f00\u59cb\u6311\u6218FTS\u5730\u4f4d\u3002\u8fd9\u4e9b\u65b9\u6cd5\u901a\u8fc7\u5206\u6790\u6e38\u79bbDNA\uff08cfDNA\uff09\u65e0\u521b\u7b5b\u67e5\u80ce\u513f\u67d3\u8272\u4f53\u5f02\u5e38\u3002\u9999\u6e2f\u4e2d\u6587\u5927\u5b66\u5987\u4ea7\u79d1\u5b66\u7cfbLiona Poon\u6559\u6388\u00a0\u5728\u540c\u4e00\u8bba\u575b\u8868\u793a\uff1a”FTS\u5df2\u88ab\u6e38\u79bbDNA\u68c0\u6d4b\u6280\u672f\u53d6\u4ee3”\u3002\u80ce\u76d8DNA\u7247\u6bb5\u5e73\u5747\u5360\u6bcd\u8840cfDNA\u603b\u91cf\u768413%[3]\u3002\u598a\u5a20\u7b2c32\u5929\u8d77\u5373\u53ef\u5728\u6bcd\u8840\u4e2d\u68c0\u6d4b\u5230150-200\u78b1\u57fa\u5bf9\u7684\u80ce\u513fDNA\u7247\u6bb5[4]\uff0c\u00a0\u00a0\u5176\u6d53\u5ea6\u968f\u5b55\u5468\u589e\u52a0[5]\u3002\u8fd9\u4e9b\u7247\u6bb5\u5728\u5206\u5a29\u540e\u4e24\u5c0f\u65f6\u5185\u5c31\u4f1a\u4ece\u6bcd\u8840\u4e2d\u6d88\u5931[3]\u3002\u901a\u8fc7\u5206\u6790\u6bcd\u80cecfDNA\uff0c\u68c0\u9a8c\u533b\u5b66\u4e13\u5bb6\u80fd\u65e0\u521b\u4e14\u7cbe\u51c6\u8bc4\u4f30\u80ce\u513f\u67d3\u8272\u4f53\u5f02\u5e38\u3002\u7cbe\u901acfDNA\u5206\u6790\u7684\u5b9e\u9a8c\u5ba4\u5c06\u5f15\u9886\u65b0\u5e94\u7528\u65b9\u5411\uff0c\u4e3a\u5408\u4f5c\u4ea7\u79d1\u533b\u751f\u63d0\u4f9b\u524d\u77bb\u6027\u652f\u6301\u3002\u968f\u7740\u9a8c\u8bc1\u53c2\u8003\u6570\u636e\u5e93\u7684\u6269\u5145\uff0c\u672a\u6765cfDNA\u68c0\u6d4b\u6709\u671b\u6269\u5c55\u81f3\u5176\u4ed6\u67d3\u8272\u4f53\u5f02\u5e38\u9886\u57df\u3002Panchalee\u535a\u58eb\u5f3a\u8c03\u00a0\uff1a”\u533b\u7597\u63d0\u4f9b\u8005\u6709\u8d23\u4efb\u638c\u63e1\u6700\u65b0\u7b5b\u67e5\u6280\u672f\uff0c\u6bcf\u4f4d\u5b55\u5987\u90fd\u4eab\u6709\u81ea\u4e3b\u9009\u62e9\u6743\u3002”<\/p>\n

cfDNA\u68c0\u6d4b\u65b9\u6cd5<\/h2>\n

\u5982\u540c\u6240\u6709\u65b0\u6280\u672f\uff0c\u591a\u79cdNIPT\u65b9\u6cd5\u6b63\u89d2\u9010\u91d1\u6807\u51c6\u5730\u4f4d\u3002\u6280\u672f\u8def\u7ebf\u6db5\u76d6\u5168\u57fa\u56e0\u7ec4\u6d4b\u5e8f\u3001\u7279\u5b9a\u67d3\u8272\u4f53\u6d4b\u5e8f\u53ca\u5fae\u9635\u5217\u5e73\u53f0\u7b49\u3002\u6700\u65e9\u5e94\u7528\u7684\u662f\u5927\u89c4\u6a21\u5e73\u884c\uff08”\u9e1f\u67aa\u6cd5”\uff09\u6d4b\u5e8f\u6280\u672f\u3002\u8be5\u65b9\u6cd5\u4e0d\u9488\u5bf9\u7279\u5b9a\u57fa\u56e0\u7ec4\u533a\u57df\uff0c\u800c\u662f\u5206\u6790\u6bcd\u4f53\u8840\u6d46\u4e2d\u6240\u6709cfDNA\u7247\u6bb5\u7684\u5b8c\u6574\u57fa\u56e0\u7ec4\u3002\u5168\u57fa\u56e0\u7ec4\u6d4b\u5e8f[6]\u9700\u5c06\u6570\u5343\u4e07\u6761\u6d4b\u5e8f\u8bfb\u6570\u4e0e\u4eba\u53c2\u8003\u57fa\u56e0\u7ec4\u6bd4\u5bf9\uff0c\u4ee5\u786e\u5b9aDNA\u7247\u6bb5\u7684\u67d3\u8272\u4f53\u6765\u6e90\u3002\u901a\u8fc7\u7edf\u8ba1\u6bd4\u5bf9\u6570\u636e\u5224\u65ad\u80ce\u513f\u662f\u5426\u5b58\u5728\u67d3\u8272\u4f53\u5f02\u5e38\u3002

\"1\"
\u5927\u89c4\u6a21\u5e73\u884c\u6d4b\u5e8f\u5206\u6790\u6bcd\u8840\u4e2d\u6240\u6709cfDNA\u7684\u5168\u57fa\u56e0\u7ec4<\/figcaption><\/figure> Panchalee\u535a\u58eb\u8868\u793a\uff1a”\u00a0\u6bcf\u4e2a\u6837\u672c\u9700\u7ea62500\u4e07\u6761\u539f\u59cb\u6d4b\u5e8f\u8bfb\u6570[7]\uff0c\u624d\u80fd\u83b7\u5f97\u76ee\u6807\u533a\u57df\u5206\u6790\u7684\u8db3\u591f\u6570\u636e\u91cf\u00a0\u3002\u00a0\u8003\u8651\u5230\u4e34\u5e8a\u76f8\u5173\u67d3\u8272\u4f53\u4ec5\u5360\u57fa\u56e0\u7ec4\u768414%[7]\uff0c\u8fd9\u79cd\u65b9\u6cd5\u5b58\u5728\u5de8\u5927\u5197\u4f59\u3002”\u65b0\u5174\u6280\u672f\u4e0d\u65ad\u6d8c\u73b0\uff0c\u5305\u62ec\u79bb\u5b50\u6fc0\u6d41\u5e73\u53f0\u7b49\u534a\u5bfc\u4f53\u6d4b\u5e8f\u6280\u672f\u3002\u867d\u7136\u5b58\u5728\u591a\u79cd\u6d4b\u5e8f\u5e73\u53f0\uff0c\u4f46\u5728\u4e24\u9879\u6280\u672f\u7684\u5bf9\u6bd4\u7814\u7a76\u4e2d\uff0c\u5b66\u8005\u53d1\u73b0[8]\u00a0\u6d4b\u5e8f\u6570\u636e\u91cf\u53ca\u7a33\u5065\u7edf\u8ba1\u7b97\u6cd5\u7684\u5e94\u7528\u5bf9\u786e\u4fdd\u7ed3\u679c\u51c6\u786e\u6027\u800c\u8a00\uff0c\u6bd4\u7279\u5b9a\u6d4b\u5e8f\u5316\u5b66\u65b9\u6cd5\u6216\u5e73\u53f0\u7c7b\u578b\u66f4\u4e3a\u5173\u952e\u3002\u8fd1\u671f\uff0c\u5fae\u9635\u5217\u5206\u6790\u6280\u672f\u5df2\u88ab\u5e94\u7528\u4e8ecfDNA\u68c0\u6d4b\u3002\u8be5\u6280\u672f\u53ef\u5bf9\u9009\u5b9a\u533a\u57df\u8fdb\u884c\u6570\u5b57\u5316\u5206\u6790\uff0c\u68c0\u6d4b\u7279\u5b9a\u67d3\u8272\u4f53\u5f02\u5e38\uff08\u598221\u300118\u300113\u4e09\u4f53\u53ca\u6027\u67d3\u8272\u4f53\u975e\u6574\u500d\u4f53\uff09\u3002
\"2\"
\u5fae\u9635\u5217\u5206\u6790\u4e0e\u6d4b\u5e8f\u6280\u672f\u5728\u9009\u5b9a\u533a\u57df\u6570\u5b57\u5316\u5206\u6790\u7684\u5bf9\u6bd4<\/figcaption><\/figure>\u5728\u4e0e\u65b0\u4e00\u4ee3\u6d4b\u5e8f\u6280\u672f(NGS)\u7684\u5bf9\u6bd4\u7814\u7a76\u4e2d\uff0c\u5fae\u9635\u5217\u5206\u6790\u5c55\u73b0\u51fa\u66f4\u5feb\u3001\u66f4\u7cbe\u51c6\u7684[9]\u00a0cfDNA\u68c0\u6d4b\u80fd\u529b\u3002\u6bcf\u4e2a\u6837\u672c\u5728\u5b50\u9635\u5217\u4e2d\u5355\u72ec\u68c0\u6d4b\uff0c\u5f62\u6210\u7b80\u5355\u7ecf\u6d4e\u7684\u5206\u6790\u6d41\u7a0b\u3002\u8be5\u65b9\u6cd5\u5df2\u5728\u591a\u9879\u4ea7\u79d1\u4eba\u7fa4\u7684\u524d\u77bb\u6027\u4e34\u5e8a\u8bd5\u9a8c\u4e2d\u5f97\u5230\u5145\u5206\u9a8c\u8bc1\u3002Panchalee\u535a\u58eb\u8bc1\u5b9e\uff1a”\u7cfb\u7edf\u5185\u90e8\u9a8c\u8bc1\u663e\u793a\u5176\u5177\u6709\u6781\u9ad8\u51c6\u786e\u6027\u4e0e\u7279\u5f02\u6027\uff0c\u672a\u51fa\u73b0\u5047\u9633\u6027\u6216\u5047\u9634\u6027\u7ed3\u679c\u3002”\u6700\u65b0\u6280\u672f\u91c7\u7528\u516d\u6b65\u6cd5\u5bf9\u5355\u94feDNA\u5206\u5b50\u6210\u50cf[10]\uff0c\u00a0\u663e\u8457\u964d\u4f4ecfDNA\u68c0\u6d4b\u590d\u6742\u5ea6\u3002\u8be5\u6280\u672f\u901a\u8fc7\u7eb3\u7c73\u6ee4\u819c\u521b\u65b0\u8bfb\u53d6\u7cfb\u7edf\uff0c\u7ed3\u5408\u65b0\u578b\u5206\u5b50\u63a2\u9488\u6807\u8bb0\u9776\u67d3\u8272\u4f53\u3002\u65e0\u9700DNA\u6269\u589e\u5fae\u9635\u5217\u6216\u6d4b\u5e8f\u5373\u53ef\u5b9e\u73b0\u5355\u5206\u5b50\u5bcc\u96c6\u6210\u50cf\u4e0e\u8ba1\u6570\u3002\u4e0eNGS\u6216\u5fae\u9635\u5217\u6280\u672f\u4e0d\u540c\uff0c\u8be5\u6280\u672f\u5c1a\u672a\u5728\u524d\u77bb\u6027\u4e34\u5e8a\u7814\u7a76\u4e2d\u83b7\u5f97\u5e7f\u6cdb\u9a8c\u8bc1\u3002<\/p>\n

cfDNA\u6280\u672f\u5c06\u5e26\u6765\u54ea\u4e9b\u6f5c\u5728\u5f71\u54cd\uff1f<\/h2>\n

\u4f5c\u4e3a\u4ec5\u9488\u5bf9\u4e2d\u9ad8\u98ce\u9669\u5b55\u5987\u7684\u7b5b\u67e5\u624b\u6bb5\uff0ccfDNA\u68c0\u6d4b\u6b63\u5728\u6539\u53d8\u5973\u6027\u9009\u62e9\uff0c\u964d\u4f4e\u5c0f\u4ea7\u98ce\u9669\u76f8\u5173\u64cd\u4f5c\u53ca\u7126\u8651\u60c5\u7eea\u3002\u9999\u6e2f\u5b55\u5987\u7814\u7a76[11]\u663e\u793a\uff0ccfDNA\u68c0\u6d4b\u63a8\u5e7f\u540e\u4fb5\u5165\u6027\u68c0\u6d4b\u7387\u663e\u8457\u4e0b\u964d\u3002\u80fd\u4e3a\u4ea7\u79d1\u533b\u5e08\u63d0\u4f9b\u975e\u4fb5\u5165\u6027\u68c0\u6d4b\u65b9\u6848\u7684\u5b9e\u9a8c\u5ba4\uff0c\u5c06\u52a9\u529b\u5b55\u5987\u66f4\u679c\u65ad\u51b3\u7b56\u5e76\u6700\u7ec8\u907f\u514d\u4e0d\u5fc5\u8981\u7684\u521b\u4f24\u6027\u64cd\u4f5c\u3002<\/p>\n

\u53c2\u8003\u6587\u732e\uff1a<\/em><\/p>\n

[1]<\/a> Malone, D.F., et al., (2005).First-Trimester or Second-Trimester Screening, or Both, for Down’s Syndrome.The 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

\n

\u672c\u6587\u57fa\u4e8e2018\u5e74\u4e9a\u6d32\u65e0\u521b\u4ea7\u524d\u68c0\u6d4b\u8bba\u575b\uff08\u6cf0\u56fd\u66fc\u8c37\uff09\u4e0a\u7684\u6f14\u8bb2\u201c\u4e34\u5e8a\u76f8\u5173\u65e0\u521b\u4ea7\u524d\u68c0\u6d4b\u6280\u672f\u7684\u6f14\u8fdb\u201d\u548c\u201c\u6e38\u79bbDNA\u68c0\u6d4b\u7684\u6700\u65b0\u8bc1\u636e\u4e0e\u5b9e\u65bd\u6a21\u578b\u201d\u3002<\/em><\/p>\n

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