{"id":85423,"date":"2022-04-07T01:48:23","date_gmt":"2022-04-07T01:48:23","guid":{"rendered":"https:\/\/prod.wplb.labbenchmarking.com\/uncategorized\/%e6%96%b0%e7%94%9f%e5%84%bf%e7%ad%9b%e6%9f%a5%e6%98%af%e5%90%a6%e5%ba%94%e5%8c%85%e5%90%ab15%e5%8f%b7%e6%9f%93%e8%89%b2%e4%bd%93%e7%95%b8%e5%8f%98%e7%96%be%e7%97%85%ef%bc%9f\/"},"modified":"2026-01-21T12:20:40","modified_gmt":"2026-01-21T12:20:40","slug":"should-newborn-screening-include-chromosome-15q-disorders","status":"publish","type":"acf_article","link":"https:\/\/labinsights.com\/zhcn\/disease-area\/newborn-screening\/should-newborn-screening-include-chromosome-15q-disorders\/","title":{"rendered":"\u65b0\u751f\u513f\u7b5b\u67e5\u662f\u5426\u5e94\u7eb3\u516515\u53f7\u67d3\u8272\u4f53q\u533a\u6bb5\u75be\u75c5\uff1f"},"content":{"rendered":"

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\u666e\u745e\u5fb7-\u5a01\u5229\u7efc\u5408\u5f81\u7814\u7a76\u57fa\u91d1\u4f1a(FPWR)\u79d1\u7814\u4e3b\u4efbTheresa Strong\u535a\u58eb\u6307\u51fa\uff1a\u201cPWS\u5168\u7403\u6ce8\u518c\u6570\u636e\u663e\u793a\uff0c\u7f8e\u56fd\u7ea620%\u75c5\u4f8b\u672a\u80fd\u65e9\u671f\u786e\u8bca\u3002\u201d<\/p>\n

\u6fb3\u5927\u5229\u4e9a\u9ed8\u591a\u514b\u513f\u7ae5\u7814\u7a76\u6240(MCRI)\u7684David Godler\u535a\u58eb\u5f00\u53d1\u7684\u65b0\u578b\u4f4e\u6210\u672c\u7532\u57fa\u5316\u68c0\u6d4b\uff0c\u6709\u671b\u89e3\u51b3\u8fd9\u4e9b\u96be\u9898\u3002 \u8be5\u6280\u672f\u540d\u4e3a\u7532\u57fa\u5316\u7279\u5f02\u6027\u5b9a\u91cf\u7194\u89e3\u5206\u6790(MS-QMA)\uff0c\u6700\u521d\u7528\u4e8e\u8106\u6027X\u7efc\u5408\u5f81\uff0c2016\u5e74\u6539\u826f\u540e\u8986\u76d6\u4e09\u592715q\u75be\u75c5\u3002<\/p>\n

\u4eca\u5e741\u6708\uff0cGodler\u535a\u58eb\u56e2\u961f\u5728\u300aJAMA\u7f51\u7edc\u5f00\u653e\u300b\u53d1\u8868\u4e86\u591a\u5e74\u9a8c\u8bc1\u7814\u7a76\u7ed3\u679c[1]\u3002\u7814\u7a76\u91c7\u7528109\u4f8bPWS\u300148\u4f8b\u5929\u4f7f\u7efc\u5408\u5f81\u548c9\u4f8bDup15q\u6837\u672c\uff0c\u8bc1\u5b9eMS-QMA\u65b9\u6cd5\u53ca\u9a8c\u8bc1\u6d41\u7a0b\u53ef\u7528\u4e8e17,000\u540d\u666e\u901a\u65b0\u751f\u513f15q\u75be\u75c5\u7b5b\u67e5\u3002\u7814\u7a76\u663e\u793a\u8be5\u68c0\u6d4b\u6210\u672c\u4e0e\u6027\u80fd\u7b26\u5408\u65b0\u751f\u513f\u7b5b\u67e5\u9879\u76ee\u6807\u51c6\u3002<\/p>\n

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Godler\u535a\u58eb\u8868\u793a\uff0c\u6fb3\u5927\u5229\u4e9a\u6b63\u89c4\u5212\u4eba\u7fa4\u89c4\u6a21\u7814\u7a76\uff0c\u8bc4\u4f30MS-QMA\u53ca\u57fa\u56e0\u7ec4\u9a8c\u8bc1\u6d41\u7a0b\u5728\u6269\u5c55\u65b0\u751f\u513f\u7b5b\u67e5\u4e2d\u7684\u4e34\u5e8a\u6548\u7528\u4e0e\u7ecf\u6d4e\u4ef7\u503c\u3002<\/p>\n

\u673a\u9047\u4e0e\u6311\u6218\u4f55\u5728\uff1f<\/h2>\n

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\u5728\u56fd\u9645\u666e\u62c9\u5fb7 – \u5a01\u5229\u7efc\u5408\u5f81\u7ec4\u7ec7\uff08IPWSO\uff09\u8fd1\u671f\u4e3e\u529e\u7684\u65b0\u751f\u513f\u7b5b\u67e5\uff08NBS\uff09\u5cf0\u4f1a\u4e0a\uff0c\u4f5b\u7f57\u91cc\u8fbe\u5927\u5b66\u513f\u79d1\u9057\u4f20\u5b66\u4e0e\u4ee3\u8c22\u75c5\u5b66\u7cfb\u6559\u6388Daniel Driscoll\u535a\u58eb\u8868\u793a\uff0c\u4ec5\u5f53\u5b58\u5728\u5145\u5206\u7406\u7531\u65f6\uff0c\u65b0\u7684\u68c0\u6d4b\u9879\u76ee\u624d\u4f1a\u88ab\u7eb3\u5165\u653f\u5e9c\u8d44\u52a9\u7684\u7b5b\u67e5\u9879\u76ee\u6e05\u5355 [3]\u3002 \u4ed6\u6307\u51faPWS\u60a3\u8005\u5e38\u6709\u660e\u663e\u4f53\u5f81\uff0c\u53ef\u80fd\u65e0\u9700\u5e38\u89c4\u7b5b\u67e5\uff1b\u5373\u4fbf\u5176\u4ed615q\u75be\u75c5\u7b26\u5408\u6761\u4ef6\uff0c\u6307\u5357\u66f4\u65b0\u4ecd\u9700\u6570\u5e74\u3002<\/p>\n

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\u4f46Godler\u535a\u58eb\u5f3a\u8c03\uff0c\u82e5\u8003\u8651\u5305\u62ec\u9a8c\u8bc1\u6027\u57fa\u56e0\u7ec4\u548c\u7532\u57fa\u5316\u68c0\u6d4b\u5728\u5185\u7684\u5168\u6d41\u7a0b\uff08\u53ef\u5bf9MS-QMA\u521d\u7b5b\u7684\u5c11\u91cf\u6837\u672c\u7528\u540c\u4e00\u8840\u6591\u8fdb\u884c\u4e8c\u6b21\u68c0\u6d4b\uff0c\u4e14\u5728\u7ed3\u679c\u53cd\u9988\u7236\u6bcd\u524d\u5b8c\u6210\uff09\uff0c\u7edd\u5bf9PPV\u5b9e\u9645\u63a5\u8fd1100%\u3002<\/p>\n

\u5c3d\u7ba1\u5982\u6b64\uff0cGodler\u535a\u58eb\u627f\u8ba4\u9700\u8981\u66f4\u591a\u8bc1\u636e\u6765\u51c6\u786e\u8bc4\u4f3015q\u75be\u75c5\u5e38\u89c4\u65b0\u751f\u513f\u7b5b\u67e5\u7684\u6027\u4ef7\u6bd4\u3002\u4f46\u8003\u8651\u5230\u5ef6\u8bef\u8bca\u65ad\u6216\u6f0f\u8bca\u7684\u6f5c\u5728\u98ce\u9669\uff0c\u4ee5\u53ca\u6cbb\u759715q\u75be\u75c5\u7684\u65b0\u836f\u7814\u53d1\u8fdb\u5c55\uff0c\u5e38\u89c4\u65b0\u751f\u513f\u7b5b\u67e5\u6216\u5c06\u6210\u4e3a\u6539\u5584\u60a3\u8005\u9884\u540e\u3001\u51cf\u8f7b\u5bb6\u5ead\u8d1f\u62c5\u548c\u4f18\u5316\u533b\u7597\u4f53\u7cfb\u8d44\u6e90\u914d\u7f6e\u7684\u5173\u952e\u7a81\u7834\u3002<\/p>\n

\u672c\u6587\u662f\u65b0\u751f\u513f\u7b5b\u67e5\u4e0e\u7f55\u89c1\u75c5\u8bca\u65ad\u7cfb\u5217\u4e13\u9898\u7684\u5f00\u7bc7\u4e4b\u4f5c\u3002\u5982\u9700\u4e86\u89e3\u672c\u7cfb\u5217\u66f4\u591a\u4fe1\u606f\uff0c\u8bf7\u8054\u7cfb\u4e9a\u592a\u533a\u533b\u7597\u5408\u4f5c\u7ecf\u7406Will Greene\uff0c\u90ae\u7bb1will.greene@roche.com\u3002\u00a0<\/em><\/p>\n

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

[1]<\/a> Godler DE, Ling L, Gamage D, et al. Feasibility of Screening for Chromosome 15 Imprinting Disorders in 16\u202f579 Newborns by Using a Novel Genomic Workflow. JAMA Netw Open. 2022;5(1):e2141911. doi:10.1001\/jamanetworkopen.2021.41911<\/p>\n

[2]<\/a>\u00a0FPWR, FAST, ASF, and Duq15q Unite to Fund Newborn Screening Grant, Foundation for Prader-Willi Research \u8be6\u89c1\uff1a<\/p>\n

[3]<\/a>\u00a0Overview of NBS and a Brief Discussion of PWS by Professor Daniel Driscoll at the Summit on Newborn screening for Prader-Willi syndrome and other chromosome 15 abnormalities, International Prader-Willi Syndrome Organisation.\u00a0\u8be6\u89c1\uff1a <\/p>\n

[4]<\/a> \u00a0Newborn Screening for Prader-Willi syndrome\u00a0by Associate Professor David Godler at the Summit on Newborn screening for Prader-Willi syndrome and other chromosome 15 abnormalities, International Prader-Willi Syndrome Organisation. \u8be6\u89c1\uff1a<\/p>\n","protected":false},"excerpt":{"rendered":"

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