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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/maternal-serum-screening-test\/\">\u6bcd\u4f53\u8840\u6e05\u30de\u30fc\u30ab\u30fc<\/a>\u691c\u67fb\u3067\u30a8\u30b9\u30c8\u30ea\u30aa\u30fc\u30eb\u3068\u3044\u3046\u5024\u304c\u975e\u5e38\u306b\u4f4e\u3044\u3053\u3068<\/strong>\u3084\u3001<strong>\u304a\u6bcd\u3055\u307e\u306e\u7537\u6027\u5316<\/strong>\u304c\u304d\u3063\u304b\u3051\u306b\u306a\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u51fa\u751f\u5f8c\u306f\u3001\u5916\u6027\u5668\u306e\u7570\u5e38\u3068\u9aa8\u683c\u306e\u7279\u5fb4\u304b\u3089\u7591\u308f\u308c\u3001<strong>\u5c3f\u4e2d\u30b9\u30c6\u30ed\u30a4\u30c9\u30d7\u30ed\u30d5\u30a1\u30a4\u30eb\uff08\u5c3f\u306b\u51fa\u308b\u30db\u30eb\u30e2\u30f3\u306e\u4ee3\u8b1d\u7269\u3092\u8a73\u3057\u304f\u5206\u6790\u3059\u308b\u691c\u67fb\uff09<\/strong>\u3067\u7279\u5fb4\u7684\u306a\u30d1\u30bf\u30fc\u30f3\u304c\u307f\u3089\u308c\u307e\u3059\u3002\u65b0\u751f\u5150\u30de\u30b9\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3067\u300117-OHP \u3068\u3044\u3046\u30db\u30eb\u30e2\u30f3\u306e\u5024\u304c\u9ad8\u3044\u3053\u3068\u304b\u3089\u898b\u3064\u304b\u308b\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u78ba\u5b9a\u8a3a\u65ad\u306f<strong>\u907a\u4f1d\u5b66\u7684\u691c\u67fb<\/strong>\u3067\u884c\u3044\u3001<strong>POR<\/strong> \u907a\u4f1d\u5b50\u306b\u7236\u65b9\u30fb\u6bcd\u65b9\u305d\u308c\u305e\u308c\u7531\u6765\u306e\u5909\u5316\u304c\u898b\u3064\u304b\u308a\u307e\u3059\u3002<strong>FGFR2 \u907a\u4f1d\u5b50\u306b\u3088\u308b\u578b\u3068\u306f\u907a\u4f1d\u306e\u4ed5\u65b9\u3082\u6cbb\u7642\u306e\u65b9\u91dd\u3082\u7570\u306a\u308b\u305f\u3081\u3001\u539f\u56e0\u907a\u4f1d\u5b50\u3092\u78ba\u5b9a\u3059\u308b\u3053\u3068\u306b\u306f\u5927\u304d\u306a\u610f\u5473\u304c\u3042\u308a\u307e\u3059\u3002<\/strong><\/p>\n\n\n<h2 class=\"wp-block-heading\">\u6cbb\u7642<\/h2>\n\n\n<p class=\"wp-block-paragraph\"><strong>\u73fe\u6642\u70b9\u3067\u3001\u3053\u306e\u75c5\u6c17\u305d\u306e\u3082\u306e\u3092\u6cbb\u3059\u6cbb\u7642\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/strong>\u305f\u3060\u3057\u3001<strong>\u547c\u5438\u306e\u78ba\u4fdd\u3068\u30db\u30eb\u30e2\u30f3\u306e\u88dc\u5145\u3092\u9069\u5207\u306b\u884c\u3046\u3053\u3068\u3067\u3001\u751f\u6d3b\u306e\u8cea\u3092\u4fdd\u3064\u3053\u3068\u304c\u671f\u5f85\u3067\u304d\u307e\u3059<\/strong>\u3002\u5c0f\u5150\u79d1\u3001\u5185\u5206\u6ccc\u79d1\u3001\u5f62\u6210\u5916\u79d1\u30fb\u8133\u795e\u7d4c\u5916\u79d1\u3001\u8033\u9f3b\u54bd\u5589\u79d1\u3001\u6574\u5f62\u5916\u79d1\u3001\u6ccc\u5c3f\u5668\u79d1\u306a\u3069\u304c\u9023\u643a\u3057\u3066\u652f\u3048\u307e\u3059\u3002<\/p>\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u547c\u5438\u306e\u78ba\u4fdd<\/strong>\uff1a\u5f8c\u9f3b\u5b54\u306e\u9589\u9396\u306b\u5bfe\u3059\u308b\u51e6\u7f6e\u3092\u884c\u3044\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u6c17\u7ba1\u5207\u958b\u3092\u691c\u8a0e\u3057\u307e\u3059<\/li>\n\n\n\n<li><strong>\u526f\u814e\u30db\u30eb\u30e2\u30f3\u306e\u88dc\u5145<\/strong>\uff1a\u30b3\u30eb\u30c1\u30be\u30fc\u30eb\u3092\u85ac\uff08\u30d2\u30c9\u30ed\u30b3\u30eb\u30c1\u30be\u30f3\uff09\u3067\u88dc\u3044\u3001<strong>\u767a\u71b1\u3084\u624b\u8853\u306a\u3069\u306e\u3068\u304d\u306b\u306f\u91cf\u3092\u5897\u3084\u3059\u5bfe\u5fdc<\/strong>\u3092\u4e8b\u524d\u306b\u6c7a\u3081\u3066\u304a\u304d\u307e\u3059<\/li>\n\n\n\n<li><strong>\u982d\u84cb\u7e2b\u5408\u65e9\u671f\u7652\u5408\u75c7\u306e\u624b\u8853<\/strong>\uff1a\u982d\u306e\u9aa8\u306e\u5f62\u3092\u6574\u3048\u3001\u8133\u306e\u6210\u9577\u306e\u5834\u6240\u3092\u78ba\u4fdd\u3057\u307e\u3059<\/li>\n\n\n\n<li><strong>\u6574\u5f62\u5916\u79d1\u7684\u306a\u6cbb\u7642<\/strong>\uff1a\u95a2\u7bc0\u306e\u52d5\u304d\u306e\u5236\u9650\u3084\u9aa8\u306e\u5f2f\u66f2\u306b\u5bfe\u3059\u308b\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u3084\u624b\u8853<\/li>\n\n\n\n<li><strong>\u6027\u5668\u306e\u8a55\u4fa1\u3068\u6cbb\u7642<\/strong>\uff1a\u5c02\u9580\u30c1\u30fc\u30e0\u3068\u3054\u5bb6\u65cf\u3067\u5341\u5206\u306b\u8a71\u3057\u5408\u3044\u306a\u304c\u3089\u3001\u6642\u671f\u3068\u65b9\u6cd5\u3092\u614e\u91cd\u306b\u691c\u8a0e\u3057\u307e\u3059<\/li>\n\n\n\n<li><strong>\u601d\u6625\u671f\u4ee5\u964d\u306e\u6027\u30db\u30eb\u30e2\u30f3\u88dc\u5145<\/strong><\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3068\u3054\u5bb6\u65cf\u3078\u306e\u5fc3\u7406\u7684\u652f\u63f4<\/strong><\/li>\n\n\n<\/ul>\n\n\n<h2 class=\"wp-block-heading\">\u3053\u306e\u75be\u60a3\u306f\u691c\u67fb\u3067\u308f\u304b\u308a\u307e\u3059<\/h2>\n\n\n<p class=\"wp-block-paragraph\">\u3053\u306e\u75be\u60a3\u306f\u3001\u539f\u56e0\u3068\u306a\u308b <strong>POR<\/strong> \u907a\u4f1d\u5b50\u3092\u8abf\u3079\u308b\u3053\u3068\u3067\u3001\u767a\u75c7\u524d\u3084\u51fa\u751f\u524d\u306b\u898b\u3064\u3051\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30afNIPT\u3067\u306f\u6b21\u306e\u691c\u67fb\u3092\u3054\u7528\u610f\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u3092\u7528\u3044\u305f\u691c\u67fb\uff081,200\u7a2e\u985e\u4ee5\u4e0a\uff09<\/h3>\n\n\n<p class=\"wp-block-paragraph\">\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u306f\u3001\u907a\u4f1d\u5b50\u306e\u3046\u3061\u305f\u3093\u3071\u304f\u8cea\u306e\u8a2d\u8a08\u56f3\u306b\u3042\u305f\u308b\u90e8\u5206\uff08\u30a8\u30af\u30bd\u30f3\uff09\u3092\u307e\u3068\u3081\u3066\u8aad\u307f\u53d6\u308b\u691c\u67fb\u3067\u3059\u3002\u3053\u306e\u89e3\u6790\u3092\u884c\u3063\u305f\u3046\u3048\u3067\u3001<strong>POR<\/strong> \u907a\u4f1d\u5b50\u3092\u542b\u3080<strong>1,200\u7a2e\u985e\u4ee5\u4e0a<\/strong>\u306e\u907a\u4f1d\u5b50\u3092\u5bfe\u8c61\u306b\u8abf\u3079\u3001<strong>\u3053\u306e\u75be\u60a3\u306e\u539f\u56e0\u3068\u306a\u308b\u5909\u5316\u3092\u691c\u51fa\u3059\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059<\/strong>\u3002\u56fd\u5185\u306e\u691c\u67fb\u6240\u3067\u884c\u3044\u3001\u7d50\u679c\u307e\u3067\u306e\u671f\u9593\u306f5\u9031\u9593\u301c7\u9031\u9593\u3067\u3059\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u3053\u306e\u75be\u60a3\u306f\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\uff08\u52a3\u6027\uff09\u907a\u4f1d\u306e\u305f\u3081\u3001\u3054\u4e21\u89aa\u304c\u3069\u3061\u3089\u3082\u75c7\u72b6\u306e\u306a\u3044\u300c\u30ad\u30e3\u30ea\u30a2\uff08\u4fdd\u56e0\u8005\uff09\u300d\u3067\u3042\u308b\u3068\u304d\u306b\u3001<strong>\u304a\u5b50\u3055\u307e\u3054\u3068\u306b4\u5206\u306e1\u306e\u78ba\u7387<\/strong>\u3067\u767a\u75c7\u3057\u307e\u3059\u3002\u691c\u67fb\u306e\u5185\u5bb9\u30fb\u8cbb\u7528\u30fb\u7d50\u679c\u307e\u3067\u306e\u671f\u9593\u306f <a href=\"\/nipt\/nipt\/carrier-screening-1200\/\">\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c81,200\uff0b\u306e\u30da\u30fc\u30b8<\/a> \u3092\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n<h2 class=\"wp-block-heading\">\u5c02\u9580\u7684\u306a\u89e3\u8aac<\/h2>\n\n\n<p class=\"wp-block-paragraph\"><strong>POR<\/strong>\uff08cytochrome P450 oxidoreductase\uff09\u306f\u3001<strong>\u30df\u30af\u30ed\u30bd\u30fc\u30e0\u306b\u5b58\u5728\u3059\u308b\u3059\u3079\u3066\u306e\u2161\u578b\u30b7\u30c8\u30af\u30ed\u30e0P450\u9175\u7d20\u3078NADPH\u304b\u3089\u96fb\u5b50\u3092\u4f9b\u7d66\u3059\u308b\u552f\u4e00\u306e\u30d5\u30e9\u30d3\u30f3\u305f\u3093\u3071\u304f<\/strong>\u3067\u3042\u308b\u3002CYP17A1\u3001CYP21A2\u3001CYP19A1 \u306e\u307b\u304b\u3001\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u5408\u6210\u7cfb\u306e CYP51A1 \u306b\u3082\u96fb\u5b50\u3092\u4f9b\u7d66\u3059\u308b\u3002\u6b20\u640d\u3059\u308b\u3068<strong>17\u03b1-\u6c34\u9178\u5316\u9175\u7d20\/17,20-\u30ea\u30a2\u30fc\u30bc\u6b20\u640d\u306821-\u6c34\u9178\u5316\u9175\u7d20\u6b20\u640d\u304c\u90e8\u5206\u7684\u306b\u5408\u308f\u3055\u3063\u305f\u75c5\u614b<\/strong>\u3068\u306a\u308a\u3001\u30d7\u30ec\u30b0\u30cd\u30ce\u30ed\u30f3\u30fb\u30d7\u30ed\u30b2\u30b9\u30c6\u30ed\u30f3\u4ee3\u8b1d\u7269\u306e\u84c4\u7a4d\u300117-OHP \u306e\u8efd\u5ea6\u4e0a\u6607\u3001\u51fa\u751f\u5f8c\u306e\u526f\u814e\u30a2\u30f3\u30c9\u30ed\u30b2\u30f3\u4f4e\u5024\u3092\u793a\u3059\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\"><strong>\u51fa\u751f\u5f8c\u306e\u30a2\u30f3\u30c9\u30ed\u30b2\u30f3\u304c\u4f4e\u3044\u306b\u3082\u304b\u304b\u308f\u3089\u305a46,XX \u5150\u304c\u80ce\u5185\u3067\u7537\u6027\u5316\u3059\u308b<\/strong>\u3068\u3044\u3046\u4e00\u898b\u77db\u76fe\u3057\u305f\u6240\u898b\u306f\u3001\u30c6\u30b9\u30c8\u30b9\u30c6\u30ed\u30f3\u3092\u7d4c\u305a\u306b\u30b8\u30d2\u30c9\u30ed\u30c6\u30b9\u30c8\u30b9\u30c6\u30ed\u30f3\u3092\u5408\u6210\u3059\u308b<strong>\u300c\u30d0\u30c3\u30af\u30c9\u30a2\u7d4c\u8def\u300d<\/strong>\u306e\u80ce\u5150\u671f\u306e\u6d3b\u6027\u5316\u3067\u8aac\u660e\u3055\u308c\u308b\u3002\u307e\u305f<strong>\u80ce\u76e4\u306e\u30a2\u30ed\u30de\u30bf\u30fc\u30bc\u6d3b\u6027\u306e\u4f4e\u4e0b<\/strong>\u306b\u3088\u308a\u80ce\u5150\u7531\u6765\u306e\u30a2\u30f3\u30c9\u30ed\u30b2\u30f3\u524d\u99c6\u7269\u8cea\u304c\u30a8\u30b9\u30c8\u30ed\u30b2\u30f3\u3078\u5909\u63db\u3055\u308c\u306b\u304f\u304f\u306a\u308a\u3001<strong>\u6bcd\u4f53\u306e\u7537\u6027\u5316\u3068\u6bcd\u4f53\u8840\u6e05\u975e\u62b1\u5408\u578b\u30a8\u30b9\u30c8\u30ea\u30aa\u30fc\u30eb\u306e\u4f4e\u5024<\/strong>\u3092\u304d\u305f\u3059\u3002\u9aa8\u683c\u7570\u5e38\u306f CYP51A1 \u3092\u4ecb\u3057\u305f\u30b9\u30c6\u30ed\u30fc\u30eb\u5408\u6210\u969c\u5bb3\u306e\u95a2\u4e0e\u304c\u60f3\u5b9a\u3055\u308c\u3066\u304a\u308a\u3001\u9ad8\u7528\u91cf\u30d5\u30eb\u30b3\u30ca\u30be\u30fc\u30eb\u80ce\u5185\u66dd\u9732\u306b\u3088\u308b\u8868\u73fe\u578b\u6a21\u5199\u306e\u5b58\u5728\u304c\u3053\u308c\u3092\u652f\u6301\u3059\u308b\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\"><strong>\u5909\u5316\u306e\u7a2e\u985e\u3068\u6b8b\u5b58\u9175\u7d20\u6d3b\u6027\u306b\u3088\u3063\u3066\u8868\u73fe\u578b\u306e\u5e45\u306f\u5e83\u304f<\/strong>\u3001\u9aa8\u683c\u7570\u5e38\u3092\u4f34\u308f\u305a\u30b9\u30c6\u30ed\u30a4\u30c9\u5408\u6210\u969c\u5bb3\u306e\u307f\u3092\u793a\u3059\u4f8b\u3082\u591a\u3044\u3002\u983b\u5ea6\u306e\u9ad8\u3044\u5909\u5316\u306b\u306f\u6c11\u65cf\u5dee\u304c\u3042\u308a\u3001<strong>\u65e5\u672c\u4eba\u3067\u306f p.Arg457His \u304c\u3001\u6b27\u5dde\u7cfb\u3067\u306f p.Ala287Pro \u304c\u591a\u3044<\/strong>\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u3002\u9451\u5225\u3068\u3057\u3066\u306f\u3001<em>FGFR2<\/em> \u95a2\u9023\u306e\u30a2\u30f3\u30c8\u30ec\u30fc\u30fb\u30d3\u30af\u30b9\u30e9\u30fc\u75c7\u5019\u7fa4\uff08\u6027\u5668\u7570\u5e38\u30fb\u30b9\u30c6\u30ed\u30a4\u30c9\u5408\u6210\u969c\u5bb3\u3092\u4f34\u308f\u306a\u3044\u3001\u4e3b\u306b\u9855\u6027\uff09\u300121-\u6c34\u9178\u5316\u9175\u7d20\u6b20\u640d\u75c7\uff08<em>CYP21A2<\/em>\uff09\u3001\u30a2\u30ed\u30de\u30bf\u30fc\u30bc\u6b20\u640d\u75c7\uff08<em>CYP19A1<\/em>\uff09\u3001\u4ed6\u306e\u75c7\u5019\u7fa4\u6027\u982d\u84cb\u7e2b\u5408\u65e9\u671f\u7652\u5408\u75c7\u3001\u30d5\u30eb\u30b3\u30ca\u30be\u30fc\u30eb\u80ce\u82bd\u75c5\u304c\u6319\u304c\u308b\u3002<strong>\u6b21\u5b50\u518d\u767a\u7387\u306f\u6f5c\u6027\u306e POR \u6b20\u640d\u75c7\u306725%\u3001\u65b0\u751f\u7a81\u7136\u5909\u7570\u306b\u3088\u308b FGFR2 \u95a2\u9023\u578b\u3067\u306f\u3054\u304f\u308f\u305a\u304b\u3068\u5927\u304d\u304f\u7570\u306a\u308b\u305f\u3081\u3001\u907a\u4f1d\u5b50\u8a3a\u65ad\u306f\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306b\u76f4\u7d50\u3059\u308b\u3002<\/strong><\/p>\n\n\n<h2 class=\"wp-block-heading\">\u3088\u304f\u3042\u308b\u8cea\u554f<\/h2>\n\n\n<h3 class=\"wp-block-heading\">Q. \u6b21\u306e\u304a\u5b50\u3055\u307e\u3078\u306e\u5f71\u97ff\u306f\u3042\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u3053\u306e\u75c5\u6c17\u306f\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u306e\u305f\u3081\u3001\u3054\u4e21\u89aa\u304c\u3069\u3061\u3089\u3082\u30ad\u30e3\u30ea\u30a2\u306e\u5834\u5408\u3001\u304a\u5b50\u3055\u307e\u3054\u3068\u306b4\u5206\u306e1\u306e\u78ba\u7387\u3067\u767a\u75c7\u3057\u307e\u3059\u3002<\/strong>\u3088\u304f\u4f3c\u305f\u75c7\u72b6\u3092\u793a\u3059 FGFR2 \u907a\u4f1d\u5b50\u306b\u3088\u308b\u578b\u306f\u3001\u591a\u304f\u304c\u5076\u767a\u7684\u306b\u8d77\u3053\u308b\uff08\u65b0\u751f\u7a81\u7136\u5909\u7570\u306b\u3088\u308b\uff09\u3082\u306e\u3067\u3001\u305d\u306e\u5834\u5408\u306e\u518d\u767a\u7387\u306f\u3054\u304f\u308f\u305a\u304b\u3067\u3059\u3002<strong>\u518d\u767a\u7387\u304c\u5927\u304d\u304f\u7570\u306a\u308b\u305f\u3081\u3001\u539f\u56e0\u907a\u4f1d\u5b50\u3092\u78ba\u5b9a\u3059\u308b\u3053\u3068\u304c\u91cd\u8981\u3067\u3059\u3002<\/strong><\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u598a\u5a20\u4e2d\u306b\u5206\u304b\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u306e\u982d\u306e\u5f62\u3084\u9aa8\u306e\u7570\u5e38\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/maternal-serum-screening-test\/\">\u6bcd\u4f53\u8840\u6e05\u30de\u30fc\u30ab\u30fc<\/a>\u691c\u67fb\u3067\u306e\u30a8\u30b9\u30c8\u30ea\u30aa\u30fc\u30eb\u306e\u4f4e\u5024\u3001\u304a\u6bcd\u3055\u307e\u306e\u7537\u6027\u5316\u306a\u3069\u304b\u3089\u7591\u308f\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/strong>\u305f\u3060\u3057\u3001\u75c7\u72b6\u304c\u8efd\u3044\u5834\u5408\u306f\u598a\u5a20\u4e2d\u306b\u6c17\u3065\u304b\u308c\u306a\u3044\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u524d\u306e\u304a\u5b50\u3055\u307e\u3067\u8a3a\u65ad\u304c\u3064\u3044\u3066\u3044\u308b\u5834\u5408\u306f\u3001\u598a\u5a20\u65e9\u671f\u304b\u3089\u306e\u691c\u67fb\u3092\u691c\u8a0e\u3067\u304d\u307e\u3059\u3002\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u3054\u76f8\u8ac7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u598a\u5a20\u4e2d\u306b\u79c1\u306e\u58f0\u304c\u4f4e\u304f\u306a\u3063\u305f\u306e\u306f\u3001\u8d64\u3061\u3083\u3093\u306e\u75c5\u6c17\u3068\u95a2\u4fc2\u304c\u3042\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. \u3053\u306e\u75c5\u6c17\u3067\u306f\u3001<strong>\u8d64\u3061\u3083\u3093\u306e\u30db\u30eb\u30e2\u30f3\u5408\u6210\u306e\u7570\u5e38\u306e\u5f71\u97ff\u3067\u3001\u304a\u6bcd\u3055\u307e\u306b\u7537\u6027\u5316\u304c\u307f\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/strong>\u305f\u3060\u3057\u3001\u598a\u5a20\u4e2d\u306e\u58f0\u306e\u5909\u5316\u3084\u306b\u304d\u3073\u306b\u306f\u307b\u304b\u306e\u539f\u56e0\u3082\u591a\u304f\u3001\u305d\u308c\u3060\u3051\u3067\u3053\u306e\u75c5\u6c17\u3068\u5224\u65ad\u3059\u308b\u3053\u3068\u306f\u3067\u304d\u307e\u305b\u3093\u3002<strong>\u6c17\u306b\u306a\u308b\u5909\u5316\u304c\u3042\u308c\u3070\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/pregnancy-checkups-frequency-and-details\/\">\u598a\u5a66\u5065\u8a3a<\/a>\u306e\u62c5\u5f53\u533b\u306b\u3054\u76f8\u8ac7\u304f\u3060\u3055\u3044\u3002<\/strong>\u3053\u306e\u75c5\u6c17\u304c\u539f\u56e0\u306e\u5834\u5408\u3001\u591a\u304f\u306f\u51fa\u7523\u5f8c\u306b\u6539\u5584\u3057\u307e\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u751f\u307e\u308c\u305f\u3042\u3068\u3001\u3069\u306e\u3088\u3046\u306a\u751f\u6d3b\u306b\u306a\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u751f\u307e\u308c\u3066\u3059\u3050\u306e\u6642\u671f\u306f\u3001\u9f3b\u306e\u5965\u304c\u72ed\u3044\u3053\u3068\u306b\u3088\u308b\u547c\u5438\u306e\u554f\u984c\u3068\u3001\u526f\u814e\u306e\u306f\u305f\u3089\u304d\u306e\u4f4e\u4e0b\u306b\u7279\u306b\u6ce8\u610f\u304c\u5fc5\u8981\u3067\u3059\u3002<\/strong>\u3053\u308c\u3089\u306b\u9069\u5207\u306b\u5bfe\u5fdc\u3067\u304d\u308c\u3070\u3001\u6210\u9577\u3057\u3066\u3044\u304f\u304a\u5b50\u3055\u307e\u3082\u591a\u304f\u3044\u3089\u3063\u3057\u3083\u3044\u307e\u3059\u3002\u982d\u306e\u9aa8\u3084\u95a2\u7bc0\u306e\u624b\u8853\u3001\u30db\u30eb\u30e2\u30f3\u306e\u88dc\u5145\u306a\u3069\u3001\u9577\u304f\u901a\u9662\u304c\u5fc5\u8981\u306b\u306a\u308a\u307e\u3059\u304c\u3001\u75c7\u72b6\u306e\u91cd\u3055\u306b\u306f\u500b\u4eba\u5dee\u304c\u5927\u304d\u3044\u305f\u3081\u3001\u4e3b\u6cbb\u533b\u3068\u3088\u304f\u76f8\u8ac7\u3057\u306a\u304c\u3089\u898b\u901a\u3057\u3092\u7acb\u3066\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u306f\u4f55\u3092\u76f8\u8ac7\u3067\u304d\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. \u8a3a\u65ad\u306e\u610f\u5473\u3001\u6b21\u306e\u304a\u5b50\u3055\u307e\u3078\u306e\u5f71\u97ff\u3001\u51fa\u751f\u524d\u691c\u67fb\u3084\u7740\u5e8a\u524d\u691c\u67fb\u306e\u9078\u629e\u80a2\u3001\u3054\u304d\u3087\u3046\u3060\u3044\u3084\u3054\u89aa\u65cf\u3078\u306e\u5f71\u97ff\u306a\u3069\u3092\u3054\u76f8\u8ac7\u3044\u305f\u3060\u3051\u307e\u3059\u3002\u5224\u65ad\u3092\u6025\u304c\u305b\u308b\u3053\u3068\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n<h2 class=\"wp-block-heading\">\u53c2\u8003\u6587\u732e<\/h2>\n\n\n<ul class=\"wp-block-list\">\n<li>Fl\u00fcck CE, Tajima T, Pandey AV, et al. Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. <em>Nat Genet<\/em>. 2004;36(3):228-230.<\/li>\n\n\n\n<li>Arlt W, Walker EA, Draper N, et al. Congenital adrenal hyperplasia caused by mutant P450 oxidoreductase and human androgen synthesis: analytical study. <em>Lancet<\/em>. 2004;363(9427):2128-2135.<\/li>\n\n\n\n<li>Huang N, Pandey AV, Agrawal V, et al. Diversity and function of mutations in P450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis. <em>Am J Hum Genet<\/em>. 2005;76(5):729-749.<\/li>\n\n\n\n<li>Fukami M, Nishimura G, Homma K, et al. Cytochrome P450 oxidoreductase deficiency: identification and characterization of biallelic mutations and genotype-phenotype correlations in 35 Japanese patients. <em>J Clin Endocrinol Metab<\/em>. 2009;94(5):1723-1731.<\/li>\n\n\n\n<li>OMIM #201750 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis. Online Mendelian Inheritance in Man.<\/li>\n\n\n<\/ul>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-147650","genetic-diseases","type-genetic-diseases","status-publish","hentry"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/147650","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/types\/genetic-diseases"}],"version-history":[{"count":0,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/147650\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=147650"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}