{"id":142813,"date":"2022-04-07T01:48:23","date_gmt":"2022-04-07T01:48:23","guid":{"rendered":"https:\/\/labinsights.com\/acf_article\/%e6%96%b0%e7%94%9f%e5%85%90%e3%82%b9%e3%82%af%e3%83%aa%e3%83%bc%e3%83%8b%e3%83%b3%e3%82%b0%e3%81%ab%e6%9f%93%e8%89%b2%e4%bd%9315q%e9%9a%9c%e5%ae%b3%e3%82%92%e5%90%ab%e3%82%81%e3%82%8b%e3%81%b9\/"},"modified":"2026-01-09T04:57:01","modified_gmt":"2026-01-09T04:57:01","slug":"should-newborn-screening-include-chromosome-15q-disorders","status":"publish","type":"acf_article","link":"https:\/\/labinsights.com\/ja\/disease-area\/newborn-screening\/should-newborn-screening-include-chromosome-15q-disorders\/","title":{"rendered":"\u65b0\u751f\u5150\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u306b\u67d3\u8272\u4f5315q\u969c\u5bb3\u3092\u542b\u3081\u308b\u3079\u304d\u3067\u3059\u304b\uff1f"},"content":{"rendered":"

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\u30b4\u30c9\u30e9\u30fc\u535a\u58eb\u306b\u3088\u308b\u3068\u3001\u30aa\u30fc\u30b9\u30c8\u30e9\u30ea\u30a2\u3067\u306f\u3001\u65b0\u3057\u3044\u65b0\u751f\u5150\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30a2\u30d7\u30ed\u30fc\u30c1\u306e\u4e00\u74b0\u3068\u3057\u3066\u3001MS-QMA\u3068\u78ba\u8a8d\u7528\u30b2\u30ce\u30df\u30c3\u30af\u30ef\u30fc\u30af\u30d5\u30ed\u30fc\u306e\u81e8\u5e8a\u7684\u6709\u7528\u6027\u304a\u3088\u3073\u7d4c\u6e08\u7684\u4fbf\u76ca\u3092\u691c\u8a3c\u3059\u308b\u305f\u3081\u306e\u96c6\u56e3\u898f\u6a21\u30b9\u30bf\u30c7\u30a3\u306e\u8a08\u753b\u3082\u9032\u884c\u4e2d\u3067\u3059\u3002<\/p>\n

\u3069\u306e\u3088\u3046\u306a\u6a5f\u4f1a\u3068\u8ab2\u984c\u304c\u3042\u308b\u306e\u3067\u3057\u3087\u3046\u304b\u3002<\/h2>\n

\u5fb4\u5019\u3084\u75c7\u72b6\u304c\u73fe\u308c\u308b\u524d\u306b\u75be\u60a3\u306e\u5b58\u5728\u3092\u7279\u5b9a\u3059\u308b\u3053\u3068\u3067\u3001NBS\u30d7\u30ed\u30b0\u30e9\u30e0\u306f\u547d\u3092\u6551\u3044\u3001\u8ee2\u5e30\u3092\u5287\u7684\u306b\u6539\u5584\u3057\u5f97\u308b\u65e9\u671f\u4ecb\u5165\u3092\u53ef\u80fd\u306b\u3057\u307e\u3059\u3002\u3057\u304b\u3057\u3001NBS\u691c\u67fb\u3092\u5927\u898f\u6a21\u306b\u5c0e\u5165\u3059\u308b\u969b\u306e\u30b3\u30b9\u30c8\u3084\u8ab2\u984c\u306b\u52a0\u3048\u3001\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u306e\u4ee3\u66ff\u3068\u306a\u308a\u5f97\u308b\u4ed6\u306e\u30a2\u30d7\u30ed\u30fc\u30c1\u3082\u5b58\u5728\u3059\u308b\u305f\u3081\u3001\u6700\u7d42\u7684\u306b\u516c\u7684\u30d1\u30cd\u30eb\u306b\u7d44\u307f\u8fbc\u307e\u308c\u308b\u75be\u60a3\u306f\u6bd4\u8f03\u7684\u5c11\u6570\u306b\u3068\u3069\u307e\u308a\u307e\u3059\u3002<\/p>\n

\u56fd\u969b\u30d7\u30e9\u30c0\u30fc\u30fb\u30a6\u30a3\u30ea\u75c7\u5019\u7fa4\u6a5f\u69cb\uff08IPWSO\uff09\u3067\u306eNBS\u306b\u95a2\u3059\u308b\u6700\u8fd1\u306e\u30b5\u30df\u30c3\u30c8\u3067\u3001\u30d5\u30ed\u30ea\u30c0\u5927\u5b66\u5c0f\u5150\u907a\u4f1d\u5b66\u30fb\u4ee3\u8b1d\u5b66\u6559\u6388\u306eDaniel Driscoll\u535a\u58eb\u306f\u3001\u65b0\u3057\u3044\u691c\u67fb\u304c\u5dde\u306e\u652f\u63f4\u3059\u308b\u30d1\u30cd\u30eb\u306b\u8ffd\u52a0\u3055\u308c\u308b\u306e\u306f\u3001\u305d\u3046\u3059\u308b\u5341\u5206\u306a\u6839\u62e0\u304c\u3042\u308b\u5834\u5408\u306b\u9650\u3089\u308c\u308b\u3068\u8ff0\u3079\u3066\u3044\u307e\u3059[3]\u3002PWS\u306b\u3064\u3044\u3066Driscoll\u535a\u58eb\u306f\u3001\u591a\u304f\u306e\u60a3\u8005\u3067\u660e\u3089\u304b\u306a\u81e8\u5e8a\u5fb4\u5019\u304c\u8a8d\u3081\u3089\u308c\u308b\u305f\u3081\u3001\u73fe\u6642\u70b9\u3067\u306f\u65e5\u5e38\u7684\u306aNBS\u304c\u5fc5\u305a\u3057\u3082\u5fc5\u8981\u3068\u306f\u3044\u3048\u306a\u3044\u53ef\u80fd\u6027\u304c\u3042\u308b\u3068\u6307\u6458\u3057\u3066\u3044\u307e\u3059\u3002\u307e\u305f\u3001\u4ed6\u306e15q\u75be\u60a3\u306b\u3064\u3044\u3066\u5c0e\u5165\u3059\u308b\u6b63\u5f53\u6027\u304c\u8a8d\u3081\u3089\u308c\u305f\u3068\u3057\u3066\u3082\u3001\u30ac\u30a4\u30c9\u30e9\u30a4\u30f3\u304c\u6539\u8a02\u3055\u308c\u308b\u307e\u3067\u306b\u306f\u4f55\u5e74\u3082\u304b\u304b\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u3068\u3082\u8ff0\u3079\u3066\u3044\u307e\u3059\u3002<\/p>\n

\u540c\u3058\u30b5\u30df\u30c3\u30c8\u3067Godler\u535a\u58eb\u306f\u3001\u7279\u306b\u533b\u7642\u5f93\u4e8b\u8005\u304c15q\u75be\u60a3\u306e\u5b58\u5728\u3092\u77e5\u3089\u306a\u304b\u3063\u305f\u308a\u3001\u305d\u308c\u3089\u3092\u691c\u67fb\u3059\u308b\u305f\u3081\u306e\u30c4\u30fc\u30eb\u3092\u6301\u305f\u306a\u304b\u3063\u305f\u308a\u3059\u308b\u4f4e\u30ea\u30bd\u30fc\u30b9\u74b0\u5883\u3067\u306f\u3001\u3044\u307e\u3060\u306bPWS\u306e\u591a\u304f\u306e\u75c7\u4f8b\u304c\u898b\u9003\u3055\u308c\u3066\u3044\u308b\u3068\u6307\u6458\u3057\u3066\u3044\u307e\u3059[4]\u3002\u6210\u9577\u30db\u30eb\u30e2\u30f3\u6cbb\u7642\u306b\u3088\u308b\u65e9\u671f\u4ecb\u5165\u3084\u3001\u3055\u307e\u3056\u307e\u306a\u884c\u52d5\u7642\u6cd5\u306fPWS\u306e\u8ee2\u5e30\u3092\u5927\u304d\u304f\u6539\u5584\u3057\u5f97\u308b\u305f\u3081\u3001\u8a3a\u65ad\u304c\u9045\u308c\u305f\u308a\u898b\u9003\u3055\u308c\u305f\u308a\u3059\u308b\u3068\u3001\u5341\u5206\u3068\u306f\u3044\u3048\u306a\u3044\u3001\u6642\u306b\u306f\u60b2\u5287\u7684\u306a\u7d50\u679c\u306b\u3064\u306a\u304c\u308b\u304a\u305d\u308c\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n

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\u3053\u306e\u8a18\u4e8b\u306f\u3001\u65b0\u751f\u5150\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3068\u5e0c\u5c11\u75be\u75c5\u8a3a\u65ad\u306b\u95a2\u3059\u308b\u30b7\u30ea\u30fc\u30ba\u306e\u6700\u521d\u306e\u8a18\u4e8b\u3067\u3059\u3002\u3053\u306e\u30b7\u30ea\u30fc\u30ba\u306e\u8a73\u7d30\u306b\u3064\u3044\u3066\u306f\u3001will.greene@roche.com\u306e\u30d8\u30eb\u30b9\u30b1\u30a2\u30a8\u30f3\u30b2\u30fc\u30b8\u30e1\u30f3\u30c8\u30de\u30cd\u30fc\u30b8\u30e3\u30fc\u3001Will Greene\u306b\u304a\u554f\u3044\u5408\u308f\u305b\u304f\u3060\u3055\u3044\u3002\u53c2\u8003\u6587\u732e\uff1a<\/em><\/p>\n

<\/em><\/p>\n

[1]<\/a> Godler DE, Ling L, Gamage D, et al.Feasibility of Screening for Chromosome 15 Imprinting Disorders in 16 579 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\u5165\u624b\u5148\uff1a <\/p>\n

[3]<\/a> NBS\u306e\u00a0\u6982\u8981\u3068Prader-Willi\u75c7\u5019\u7fa4\u53ca\u3073\u4ed6\u306e15\u756a\u67d3\u8272\u4f53\u7570\u5e38\u306e\u65b0\u751f\u5150\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u306b\u95a2\u3059\u308b\u30b5\u30df\u30c3\u30c8\u306b\u304a\u3051\u308bDaniel Driscoll\u6559\u6388\u306b\u3088\u308bPWS\u306e\u7c21\u5358\u306a\u8003\u5bdf\u3001International Prader-Willi Syndrome Organization.\u00a0\u4ee5\u4e0b\u3067\u95b2\u89a7\u53ef\u80fd\u3067\u3059\uff1a <\/p>\n

[4]<\/a>\u00a0\u30d7\u30e9\u30c0\u30fc\u30fb\u30a6\u30a3\u30ea\u30fc\u75c7\u5019\u7fa4\u306e\u65b0\u751f\u5150\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u00a0International Prader-Willi Syndrome Organisation \u4e3b\u50ac\u306e\u300cPrader-Willi\u75c7\u5019\u7fa4\u304a\u3088\u3073\u305d\u306e\u4ed6\u306e15\u756a\u67d3\u8272\u4f53\u7570\u5e38\u306b\u95a2\u3059\u308b\u65b0\u751f\u5150\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30fb\u30b5\u30df\u30c3\u30c8\u300d\u306b\u304a\u3051\u308b David Godler \u51c6\u6559\u6388\u306e\u8b1b\u6f14\u3002\u4ee5\u4e0b\u3067\u95b2\u89a7\u53ef\u80fd\u3067\u3059\uff1a <\/p>\n","protected":false},"excerpt":{"rendered":"

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