{"id":83437,"date":"2024-11-14T12:04:28","date_gmt":"2024-11-14T03:04:28","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=83437"},"modified":"2025-08-08T17:03:12","modified_gmt":"2025-08-08T08:03:12","slug":"wolf-hirschhorn_syndrome","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wolf-hirschhorn_syndrome\/","title":{"rendered":"Wolf-Hirschhorn\u75c7\u5019\u7fa4\uff08\u30a6\u30eb\u30d5\u30fb\u30d2\u30eb\u30b7\u30e5\u30db\u30fc\u30f3\u75c7\u5019\u7fa4\uff09\u3068\u306f\u2014\u539f\u56e0\u3001\u75c7\u72b6\u3001\u6cbb\u7642\u3001\u4e88\u5f8c\u3001\u305d\u3057\u3066\u5bb6\u65cf\u3078\u306e\u5f71\u97ff"},"content":{"rendered":"\n<div style=\"border:solid #ffe6e6 0.8rem;background-color: #fff9f9;padding:3% 5%;margin:1rem 0 3rem;\"><h2 style=\"margin-top:1rem;\">\u3053\u306e\u8a18\u4e8b\u306e\u307e\u3068\u3081<\/h2><p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/wolf-hirschhorn_syndrome\/\">\u30a6\u30eb\u30d5\u30fb\u30d2\u30eb\u30b7\u30e5\u30db\u30fc\u30f3\u75c7\u5019\u7fa4<\/a>\uff08WHS\uff09\u306f\u3001\u8eab\u4f53\u7684\u304a\u3088\u3073\u767a\u9054\u7684\u306a\u591a\u69d8\u306a\u75c7\u72b6\u3092\u4f34\u3046\u7a00\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002\u72ec\u7279\u306a\u9854\u7acb\u3061\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3001\u3066\u3093\u304b\u3093\u767a\u4f5c\u306a\u3069\u306e\u7279\u5fb4\u3092\u6301\u3061\u307e\u3059\u304c\u3001\u65e9\u671f\u8a3a\u65ad\u3068\u5305\u62ec\u7684\u306a\u30b1\u30a2\u306b\u3088\u308a\u751f\u6d3b\u306e\u8cea\u3092\u5411\u4e0a\u3055\u305b\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059\u3002\u672c\u8a18\u4e8b\u3067\u306f\u3001WHS\u306e\u8a73\u7d30\u306a\u7279\u5fb4\u3001\u8a3a\u65ad\u3001\u6cbb\u7642\u65b9\u6cd5\u3092\u308f\u304b\u308a\u3084\u3059\u304f\u8aac\u660e\u3057\u307e\u3059\u3002<\/p><\/div>\n\n\n\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_84 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">\u76ee\u6b21<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" height=\"10px\" viewBox=\"0 0 24 24\" version=\"1.2\" baseProfile=\"tiny\"><path d=\"M18.2 9.3l-6.2-6.3-6.2 6.3c-.2.2-.3.4-.3.7s.1.5.3.7c.2.2.4.3.7.3h11c.3 0 .5-.1.7-.3.2-.2.3-.5.3-.7s-.1-.5-.3-.7zM5.8 14.7l6.2 6.3 6.2-6.3c.2-.2.3-.5.3-.7s-.1-.5-.3-.7c-.2-.2-.4-.3-.7-.3h-11c-.3 0-.5.1-.7.3-.2.2-.3.5-.3.7s.1.5.3.7z\"\/><\/svg><\/span><\/span><\/span><\/a><\/span><\/div>\n<nav><ul class='ez-toc-list ez-toc-list-level-1 ' ><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-1\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/wolf-hirschhorn_syndrome\/#%E7%96%BE%E6%82%A3%E6%A6%82%E8%A6%81\" >\u75be\u60a3\u6982\u8981<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/wolf-hirschhorn_syndrome\/#%E7%97%85%E5%9B%A0%E3%81%A8%E8%A8%BA%E6%96%AD%E3%81%AE%E6%96%B9%E6%B3%95\" >\u75c5\u56e0\u3068\u8a3a\u65ad\u306e\u65b9\u6cd5<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/wolf-hirschhorn_syndrome\/#%E7%96%BE%E6%82%A3%E3%81%AE%E7%97%87%E7%8A%B6%E3%81%A8%E7%AE%A1%E7%90%86%E6%96%B9%E6%B3%95\" >\u75be\u60a3\u306e\u75c7\u72b6\u3068\u7ba1\u7406\u65b9\u6cd5<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/wolf-hirschhorn_syndrome\/#%E5%B0%86%E6%9D%A5%E3%81%AE%E8%A6%8B%E9%80%9A%E3%81%97\" >\u5c06\u6765\u306e\u898b\u901a\u3057<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/wolf-hirschhorn_syndrome\/#%E3%82%82%E3%81%A3%E3%81%A8%E7%9F%A5%E3%82%8A%E3%81%9F%E3%81%84%E6%96%B9%E3%81%B8\" >\u3082\u3063\u3068\u77e5\u308a\u305f\u3044\u65b9\u3078<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/wolf-hirschhorn_syndrome\/#%E5%BC%95%E7%94%A8%E6%96%87%E7%8C%AE\" >\u5f15\u7528\u6587\u732e<\/a><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%96%BE%E6%82%A3%E6%A6%82%E8%A6%81\"><\/span>\u75be\u60a3\u6982\u8981<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"23\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/4p16.3-hgtIdeo_genome_c50f9_b59430-1024x23.png\" alt=\"4p16.3\" class=\"wp-image-88914\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/wolf-hirschhorn_syndrome\/\">\u30a6\u30eb\u30d5\u30fb\u30d2\u30eb\u30b7\u30e5\u30db\u30fc\u30f3\u75c7\u5019\u7fa4<\/a>\uff08Wolf-Hirschhorn Syndrome, WHS\uff09\u306f\u30014\u756a\u67d3\u8272\u4f53\u306e\u672b\u7aef\u90e8\u5206\uff084p\uff09\u306e\u6b20\u5931\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u7a00\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002\u3053\u306e\u75be\u60a3\u306f\u3001\u8eab\u4f53\u7684\u3001\u767a\u9054\u7684\u3001\u795e\u7d4c\u5b66\u7684\u306a\u3055\u307e\u3056\u307e\u306a\u7279\u5fb4\u3092\u6301\u3064\u3053\u3068\u304c\u7279\u5fb4\u3067\u3059\u3002\u51fa\u751f\u6642\u306e\u767a\u751f\u7387\u306f\u7d0420,000\u301c50,000\u4eba\u306b1\u4eba\u3068\u63a8\u5b9a\u3055\u308c\u3066\u304a\u308a\u3001\u5973\u6027\u304c\u7537\u6027\u3088\u308a\u3082\u7d042:1\u306e\u5272\u5408\u3067\u591a\u304f\u898b\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>WHS\u306e\u4e3b\u306a\u7279\u5fb4\u306b\u306f\u3001\u72ec\u7279\u306e\u9854\u7acb\u3061\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3001\u7cbe\u795e\u904b\u52d5\u767a\u9054\u306e\u9045\u308c\u3001\u51fa\u751f\u5f8c\u306e\u6210\u9577\u969c\u5bb3\u3001\u4f4e\u7b4b\u7dca\u5f35\uff08\u7b4b\u8089\u306e\u7dca\u5f35\u304c\u5f31\u3044\u72b6\u614b\uff09\u3001\u304a\u3088\u3073\u5148\u5929\u6027\u7570\u5e38\u304c\u542b\u307e\u308c\u307e\u3059\u3002\u5178\u578b\u7684\u306a\u9854\u306e\u7279\u5fb4\u3068\u3057\u3066\u306f\u3001\u300c\u30ae\u30ea\u30b7\u30e3\u306e\u6226\u58eb\u306e\u515c\u300d\u3068\u5f62\u5bb9\u3055\u308c\u308b\u5e83\u304f\u5e73\u3089\u306a\u9f3b\u6881\u3001\u76ee\u306e\u9593\u304c\u5e83\u3044\uff08\u773c\u9593\u89e3\u96e2\uff09\u3001\u5c0f\u984e\u75c7\uff08\u984e\u304c\u5c0f\u3055\u3044\u72b6\u614b\uff09\u3001\u8033\u306e\u4f4d\u7f6e\u304c\u4f4e\u3044\uff08\u4f4e\u4f4d\u8033\uff09\u306a\u3069\u304c\u3042\u308a\u307e\u3059\u3002\u4e00\u90e8\u306e\u30b1\u30fc\u30b9\u3067\u306f\u51fa\u751f\u524d\u306e\u6210\u9577\u9045\u5ef6\u304c\u89b3\u5bdf\u3055\u308c\u307e\u3059\u304c\u3001\u51fa\u751f\u5f8c\u306e\u6210\u9577\u969c\u5bb3\u306f\u4e00\u8cab\u3057\u3066\u898b\u3089\u308c\u308b\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u795e\u7d4c\u5b66\u7684\u304a\u3088\u3073\u767a\u9054\u4e0a\u306e\u8ab2\u984c\u306f\u9855\u8457\u3067\u3059\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u306f\u4e2d\u7b49\u5ea6\u304b\u3089\u91cd\u5ea6\u306b\u53ca\u3073\u3001\u7cbe\u795e\u904b\u52d5\u767a\u9054\uff08\u4f8b: \u6b69\u884c\u3084\u8a00\u8a9e\u30b9\u30ad\u30eb\uff09\u306f\u5927\u5e45\u306b\u9045\u308c\u307e\u3059\u3002\u3066\u3093\u304b\u3093\u767a\u4f5c\u306f\u4e00\u822c\u7684\u306a\u5408\u4f75\u75c7\u3067\u3042\u308a\u3001\u591a\u304f\u306e\u5834\u5408\u5e7c\u5150\u671f\u306b\u59cb\u307e\u308a\u3001\u7ba1\u7406\u304c\u96e3\u3057\u3044\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002\u307e\u305f\u3001\u8133\u306e\u69cb\u9020\u7684\u7570\u5e38\u3082\u983b\u7e41\u306b\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:17px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"426\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/31295073_s.jpg\" alt=\"\u304a\u3066\u3066\" class=\"wp-image-87378\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>WHS\u306b\u95a2\u9023\u3059\u308b\u4ed6\u306e\u533b\u5b66\u7684\u554f\u984c\u306b\u306f\u3001\u5fc3\u81d3\u306e\u6b20\u9665\u3001\u814e\u81d3\u306e\u7570\u5e38\u3001\u304a\u3088\u3073\u514d\u75ab\u4e0d\u5168\u304c\u542b\u307e\u308c\u307e\u3059\u3002\u514d\u75ab\u4e0d\u5168\u306b\u3088\u308a\u611f\u67d3\u75c7\u306b\u304b\u304b\u308a\u3084\u3059\u304f\u306a\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002\u4f4e\u7b4b\u7dca\u5f35\u306f\u6442\u98df\u306e\u56f0\u96e3\u3001\u904b\u52d5\u30b9\u30ad\u30eb\u306e\u767a\u9054\u306e\u9045\u308c\u3001\u5168\u4f53\u7684\u306a\u4f53\u529b\u306e\u4f4e\u4e0b\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>WHS\u306e\u7ba1\u7406\u306b\u306f\u3001\u500b\u3005\u306e\u75c7\u72b6\u306b\u5408\u308f\u305b\u305f\u591a\u8077\u7a2e\u306b\u3088\u308b\u30a2\u30d7\u30ed\u30fc\u30c1\u304c\u5fc5\u8981\u3067\u3059\u3002\u65e9\u671f\u4ecb\u5165\u3068\u3057\u3066\u3001\u8eab\u4f53\u7642\u6cd5\u3001\u4f5c\u696d\u7642\u6cd5\u3001\u8a00\u8a9e\u7642\u6cd5\u3092\u884c\u3046\u3053\u3068\u3067\u3001\u767a\u9054\u306e\u6210\u679c\u3092\u5411\u4e0a\u3055\u305b\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u3066\u3093\u304b\u3093\u767a\u4f5c\u3001\u5fc3\u81d3\u3084\u814e\u81d3\u306e\u554f\u984c\u3001\u305d\u306e\u4ed6\u306e\u6f5c\u5728\u7684\u306a\u5408\u4f75\u75c7\u3092\u7ba1\u7406\u3059\u308b\u305f\u3081\u306b\u306f\u3001\u5c02\u9580\u533b\u306b\u3088\u308b\u5b9a\u671f\u7684\u306a\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0\u304c\u91cd\u8981\u3067\u3059\u3002\u5bb6\u65cf\u306b\u5bfe\u3057\u3066\u306f\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3092\u63d0\u4f9b\u3059\u308b\u3053\u3068\u3067\u3001\u3053\u306e\u75be\u60a3\u306b\u3064\u3044\u3066\u7406\u89e3\u3092\u6df1\u3081\u3001\u5c06\u6765\u306e\u598a\u5a20\u306b\u304a\u3051\u308b\u518d\u767a\u30ea\u30b9\u30af\u3092\u628a\u63e1\u3059\u308b\u652f\u63f4\u3092\u884c\u3044\u307e\u3059\u3002\u307e\u305f\u3001\u975e\u4fb5\u8972\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\uff08<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>\uff09\u306f\u3001\u4fe1\u983c\u6027\u304c\u9ad8\u304f\u5b89\u5168\u306a\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u65b9\u6cd5\u3068\u3057\u3066\u63a8\u5968\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n    <a href=\"\/nipt\/roberts-syndrome-esco2-overview\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u30ed\u30d0\u30fc\u30c4\u75c7\u5019\u7fa4\uff08ESCO2\u95a2\u9023\u30b3\u30d2\u30fc\u30b7\u30ce\u30d1\u30c1\u30fc\uff09\u3010ESCO2\u3011 <\/div>\n          <div class=\"blog-card-excerpt\">\u624b\u8db3\u306e\u77ed\u7e2e\u3084\u6210\u9577\u306e\u9045\u308c\u3092\u7279\u5fb4\u3068\u3059\u308b\u30ed\u30d0\u30fc\u30c4\u75c7\u5019\u7fa4\u3002\u539f\u56e0\u3068\u306a\u308bESCO2\u907a\u4f1d\u5b50\u3084\u8a3a\u65ad\u30fb\u6cbb\u7642\u306e\u30dd\u30a4\u30f3\u30c8\u3092\u3084\u3055\u3057\u304f\u89e3\u8aac\u3057\u307e\u3059\u3002\uff5c\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af...<\/div>\n      <\/div>\n    <\/a>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u598a\u5a20\u4e2d\u306e\u30ea\u30b9\u30af\u7ba1\u7406\u306b<br \/>\nNIPT\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p>&nbsp;<\/p>\n<\/div>\n<\/div>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%97%85%E5%9B%A0%E3%81%A8%E8%A8%BA%E6%96%AD%E3%81%AE%E6%96%B9%E6%B3%95\"><\/span>\u75c5\u56e0\u3068\u8a3a\u65ad\u306e\u65b9\u6cd5<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/wolf-hirschhorn_syndrome\/\">\u30a6\u30eb\u30d5\u30fb\u30d2\u30eb\u30b7\u30e5\u30db\u30fc\u30f3\u75c7\u5019\u7fa4<\/a>\uff08Wolf-Hirschhorn Syndrome, WHS\uff09\u306f\u30014\u756a\u67d3\u8272\u4f53\u306e\u77ed\u8155\uff08p\u30a2\u30fc\u30e0\uff09\u306e4p16.3\u9818\u57df\u306b\u304a\u3051\u308b\u6b20\u5931\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u7a00\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002\u3053\u306e\u6b20\u5931\u306b\u3088\u308a\u907a\u4f1d\u7269\u8cea\u304c\u5931\u308f\u308c\u307e\u3059\u304c\u3001\u305d\u306e\u5927\u304d\u3055\u306f\u500b\u4eba\u306b\u3088\u3063\u3066\u5927\u304d\u304f\u7570\u306a\u308a\u307e\u3059\u3002\u6b20\u5931\u306e\u30b5\u30a4\u30ba\u3084\u4f4d\u7f6e\u306b\u3088\u3063\u3066\u75c7\u72b6\u306e\u91cd\u3055\u3084\u7bc4\u56f2\u304c\u5909\u5316\u3059\u308b\u305f\u3081\u3001WHS\u306f\u975e\u5e38\u306b\u591a\u69d8\u306a\u7279\u5fb4\u3092\u6301\u3064\u75be\u60a3\u3067\u3059\u3002\u307e\u305f\u3001WHS\u306f\u300c\u9023\u7d9a\u907a\u4f1d\u5b50\u75c7\u5019\u7fa4\u300d\u3068\u3057\u3066\u5206\u985e\u3055\u308c\u3066\u304a\u308a\u3001\u67d3\u8272\u4f53\u9818\u57df\u5185\u306e\u8907\u6570\u306e\u96a3\u63a5\u907a\u4f1d\u5b50\u304c\u5f71\u97ff\u3092\u53d7\u3051\u308b\u3053\u3068\u304c\u539f\u56e0\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>WHS\u306b\u95a2\u9023\u3059\u308b\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u9818\u57df\u306f\u3001WHS\u30af\u30ea\u30c6\u30a3\u30ab\u30eb\u30ea\u30fc\u30b8\u30e7\u30f31\u304a\u3088\u30732\uff08WHSCR1\u3001WHSCR2\uff09\u3068\u547c\u3070\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u3089\u306f4p16.3\u9818\u57df\u306e\u672b\u7aef\u306b\u4f4d\u7f6e\u3059\u308b1.5\u301c1.6\u30e1\u30ac\u30d9\u30fc\u30b9\uff08Mb\uff09\u306e\u91cd\u8907\u9818\u57df\u3067\u3001\u767a\u9054\u306e\u9045\u308c\u3084\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u3068\u3044\u3063\u305fWHS\u306e\u6838\u5fc3\u7684\u306a\u81e8\u5e8a\u7279\u5fb4\u3092\u5f15\u304d\u8d77\u3053\u3059\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"517\" height=\"500\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/chr4-MddVZDYGTWBIODSVLEAAADMJ.png\" alt=\"chr4\" class=\"wp-image-88920\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>WHS\u306e\u307b\u3068\u3093\u3069\u306e\u30b1\u30fc\u30b9\u306f\u3001\u81ea\u7136\u767a\u751f\u7684\u306a\uff08de novo\uff09\u6b20\u5931\u306b\u3088\u308b\u3082\u306e\u3067\u3042\u308a\u3001\u89aa\u304b\u3089\u907a\u4f1d\u3059\u308b\u3053\u3068\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u3057\u304b\u3057\u3001\u7d0420%\u306e\u30b1\u30fc\u30b9\u3067\u306f\u3001\u4ed6\u306e\u67d3\u8272\u4f53\u3068\u306e\u518d\u7de8\u6210\u306b\u3088\u308a4p\u306e\u4e00\u90e8\u304c\u5931\u308f\u308c\u308b\u300c\u4e0d\u5747\u8861\u578b\u8ee2\u5ea7\u300d\u304c\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002\u3053\u306e\u3088\u3046\u306a\u8ee2\u5ea7\u306f\u81ea\u7136\u767a\u751f\u7684\u306b\u8d77\u3053\u308b\u5834\u5408\u3082\u3042\u308c\u3070\u3001\u89aa\u304c\u75c7\u72b6\u3092\u793a\u3055\u306a\u3044\u300c\u5747\u8861\u578b\u8ee2\u5ea7\u300d\u3092\u6301\u3064\u5834\u5408\u306b\u907a\u4f1d\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002WHS\u306b\u95a2\u9023\u3059\u308b\u4e00\u822c\u7684\u306a\u8ee2\u5ea7\u306b\u306f\u30014p\u30688p\u30017p\u300111p\u300120q\u300121q\u300112p\u3068\u306e\u518d\u7de8\u6210\u304c\u542b\u307e\u308c\u307e\u3059\u3002\u307e\u305f\u3001\u30ea\u30f3\u30b0\u72b6\u67d3\u8272\u4f53\u3084\u30014p\u306e\u7aef\u90e8\u6b20\u5931\u3092\u4f34\u3046\u9006\u5411\u304d\u306e\u91cd\u8907\u306a\u3069\u3001\u8907\u96d1\u306a<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosomal-abnormality\/\">\u67d3\u8272\u4f53\u7570\u5e38<\/a>\u304cWHS\u3092\u5f15\u304d\u8d77\u3053\u3059\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>4p\u6b20\u5931\u306e\u7bc4\u56f2\u306f2 Mb\u672a\u6e80\u304b\u308930 Mb\u4ee5\u4e0a\u307e\u3067\u5e45\u304c\u3042\u308a\u3001\u3053\u306e\u9055\u3044\u304c\u75be\u60a3\u306e\u81e8\u5e8a\u7684\u7279\u5fb4\u306b\u5927\u304d\u306a\u5f71\u97ff\u3092\u4e0e\u3048\u307e\u3059\u3002WHS\u306e\u8868\u73fe\u578b\u306f\u3001\u6b20\u5931\u306e\u5927\u304d\u3055\u306b\u57fa\u3065\u3044\u3066\u4ee5\u4e0b\u306e3\u3064\u306e\u30ab\u30c6\u30b4\u30ea\u30fc\u306b\u5206\u985e\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5c0f\u3055\u306a\u6b20\u5931\uff083.5 Mb\u4ee5\u4e0b\uff09<\/strong>: \u7279\u5fb4\u7684\u306a\u9854\u7acb\u3061\u3001\u6210\u9577\u9045\u5ef6\u3001\u8efd\u5ea6\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3001\u3066\u3093\u304b\u3093\u767a\u4f5c\u306a\u3069\u306e\u8efd\u5ea6\u306e\u75c7\u72b6\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5927\u304d\u306a\u6b20\u5931\uff085\u301c18 Mb\uff09<\/strong>: \u6700\u3082\u4e00\u822c\u7684\u306a\u30bf\u30a4\u30d7\u3067\u3001\u4f4e\u7b4b\u7dca\u5f35\u3001\u8457\u3057\u3044\u795e\u7d4c\u767a\u9054\u969c\u5bb3\u3001\u91cd\u5ea6\u306e\u6210\u9577\u9045\u5ef6\u3001\u8efd\u5ea6\u306e\u6b20\u5931\u3067\u898b\u3089\u308c\u308b\u75c7\u72b6\u306b\u52a0\u3048\u3001\u3055\u3089\u306a\u308b\u5148\u5929\u6027\u7570\u5e38\u3092\u4f34\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u975e\u5e38\u306b\u5927\u304d\u306a\u6b20\u5931\uff0822\u301c25 Mb\u4ee5\u4e0a\uff09<\/strong>: \u6700\u3082\u91cd\u5ea6\u306e\u8868\u73fe\u578b\u3092\u793a\u3057\u3001\u5e83\u7bc4\u56f2\u306a\u5947\u5f62\u3092\u4f34\u3046\u3053\u3068\u304c\u591a\u304f\u3001\u5834\u5408\u306b\u3088\u3063\u3066\u306fWHS\u3068\u8a8d\u8b58\u3057\u3065\u3089\u3044\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u7279\u306b3\u301c5 Mb\u3092\u8d85\u3048\u308b\u6b20\u5931\u306e\u5834\u5408\u3001\u5fc3\u75be\u60a3\u3084\u53e3\u84cb\u88c2\u306a\u3069\u306e\u8ffd\u52a0\u306e\u5148\u5929\u6027\u7570\u5e38\u306e\u30ea\u30b9\u30af\u304c\u9ad8\u307e\u308a\u307e\u3059\u3002\u305d\u306e\u305f\u3081\u3001\u907a\u4f1d\u5b50\u691c\u67fb\u3092\u901a\u3058\u3066\u6b20\u5931\u306e\u5177\u4f53\u7684\u306a\u30b5\u30a4\u30ba\u3084\u907a\u4f1d\u7684\u5185\u5bb9\u3092\u7279\u5b9a\u3059\u308b\u3053\u3068\u304c\u91cd\u8981\u3067\u3059\u3002\u3053\u306e\u60c5\u5831\u306f\u3001\u75be\u60a3\u306e\u91cd\u75c7\u5ea6\u3092\u4e88\u6e2c\u3057\u3001\u9069\u5207\u306a\u533b\u7642\u7ba1\u7406\u3092\u8a08\u753b\u3059\u308b\u4e0a\u3067\u5f79\u7acb\u3061\u307e\u3059\u3002<\/p>\n\n\n\n<p>WHS\u306f\u8907\u96d1\u306a\u75be\u60a3\u3067\u3042\u308a\u3001\u500b\u3005\u306e\u75c7\u72b6\u3084\u30cb\u30fc\u30ba\u306b\u5408\u308f\u305b\u305f\u591a\u8077\u7a2e\u9023\u643a\u306b\u3088\u308b\u30b1\u30a2\u304c\u6c42\u3081\u3089\u308c\u307e\u3059\u3002\u7279\u306b\u3001\u907a\u4f1d\u7684\u306a\u8ee2\u5ea7\u304c\u95a2\u4e0e\u3057\u3066\u3044\u308b\u5834\u5408\u306b\u306f\u3001\u5bb6\u65cf\u304c\u75be\u60a3\u306b\u3064\u3044\u3066\u7406\u89e3\u3057\u3001\u5c06\u6765\u306e\u598a\u5a20\u306b\u304a\u3051\u308b\u30ea\u30b9\u30af\u3092\u628a\u63e1\u3067\u304d\u308b\u3088\u3046\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u304c\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u598a\u5a20\u4e2d\u306e\u30ea\u30b9\u30af\u7ba1\u7406\u306b<br \/>\nNIPT\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p>&nbsp;<\/p>\n<\/div>\n<\/div>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/wolf-hirschhorn_syndrome\/\">\u30a6\u30eb\u30d5\u30fb\u30d2\u30eb\u30b7\u30e5\u30db\u30fc\u30f3\u75c7\u5019\u7fa4<\/a>\uff08Wolf-Hirschhorn Syndrome, WHS\uff09\u306f\u3001\u81e8\u5e8a\u8a55\u4fa1\u3001\u907a\u4f1d\u5b50\u691c\u67fb\u3001\u304a\u3088\u3073\u7279\u5b9a\u306e\u5834\u5408\u306e\u51fa\u751f\u524d\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3092\u7d44\u307f\u5408\u308f\u305b\u308b\u3053\u3068\u3067\u8a3a\u65ad\u3055\u308c\u307e\u3059\u3002\u3053\u306e\u75be\u60a3\u306f\u30014\u756a\u67d3\u8272\u4f53\u306e\u77ed\u8155\uff084p16.3\uff09\u306b\u304a\u3051\u308b\u6b20\u5931\u306b\u3088\u3063\u3066\u4e3b\u306b\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002\u307b\u3068\u3093\u3069\u306e\u30b1\u30fc\u30b9\u306f\u81ea\u7136\u767a\u751f\u7684\uff08sporadic\uff09\u3067\u907a\u4f1d\u6027\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u4e00\u90e8\u306f\u5747\u8861\u578b\u67d3\u8272\u4f53\u518d\u914d\u5217\u3092\u6301\u3064\u89aa\u304b\u3089\u4e0d\u5747\u8861\u578b\u8ee2\u5ea7\u3092\u5f15\u304d\u7d99\u3050\u5f62\u3067\u767a\u751f\u3057\u307e\u3059\u3002\u5bb6\u65cf\u5185\u3067\u3053\u3046\u3057\u305f\u518d\u914d\u5217\u304c\u7279\u5b9a\u3055\u308c\u3066\u3044\u308b\u5834\u5408\u3001\u7279\u306b\u5c06\u6765\u306e\u598a\u5a20\u306b\u304a\u3044\u3066\u3001\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u691c\u67fb\u3092\u901a\u3058\u305f\u30bf\u30fc\u30b2\u30c3\u30c8\u30c6\u30b9\u30c8\u304c\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u5bb6\u65cf\u5185\u30674p16.3\u67d3\u8272\u4f53\u518d\u914d\u5217\u304c\u65e2\u306b\u7279\u5b9a\u3055\u308c\u3066\u3044\u308b\u5834\u5408\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u306f\u4e0d\u5b89\u3092\u8efd\u6e1b\u3057\u305f\u308a\u3001\u9069\u5207\u306b\u6e96\u5099\u3059\u308b\u6642\u9593\u3092\u78ba\u4fdd\u3059\u308b\u4e0a\u3067\u7279\u306b\u5f79\u7acb\u3064\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002DNA\u914d\u5217\u89e3\u6790\u6280\u8853\u306e\u9032\u6b69\u306b\u3088\u308a\u3001\u975e\u4fb5\u8972\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\uff08<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>\uff09\u304c\u5b89\u5168\u3067\u4fe1\u983c\u6027\u306e\u9ad8\u3044\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u65b9\u6cd5\u3068\u3057\u3066\u666e\u53ca\u3057\u3066\u3044\u307e\u3059\u3002NIPT\u3067\u306f\u3001\u6bcd\u4f53\u306e\u8840\u6db2\u4e2d\u306b\u542b\u307e\u308c\u308b\u80ce\u5150\u306eDNA\u3092\u5206\u6790\u3057\u3001\u6bcd\u4f53\u3084\u80ce\u5150\u306b\u30ea\u30b9\u30af\u3092\u53ca\u307c\u3059\u3053\u3068\u306a\u304f\u907a\u4f1d\u7684\u7570\u5e38\u3092\u691c\u51fa\u3057\u307e\u3059\u3002\u7570\u5e38\u304c\u691c\u51fa\u3055\u308c\u305f\u5834\u5408\u3001\u7f8a\u6c34\u7a7f\u523a\u306a\u3069\u306e\u8ffd\u52a0\u306e\u8a3a\u65ad\u624b\u7d9a\u304d\u304c\u63a8\u5968\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"426\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/31295071_s.jpg\" alt=\"\u304a\u3066\u3066\u3092\u63e1\u308d\u3046\" class=\"wp-image-88556\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u4e73\u5150\u3084\u5b50\u3069\u3082\u306e\u5834\u5408\u3001\u8a3a\u65ad\u306f\u901a\u5e38\u3001\u8eab\u4f53\u691c\u67fb\u3068\u907a\u4f1d\u5b50\u691c\u67fb\u306e\u7d44\u307f\u5408\u308f\u305b\u306b\u3088\u3063\u3066\u884c\u308f\u308c\u307e\u3059\u3002WHS\u306e\u7279\u5fb4\u7684\u306a\u81e8\u5e8a\u75c7\u72b6\u3001\u4f8b\u3048\u3070\u9854\u306e\u5f62\u614b\u7570\u5e38\uff08\u9854\u9762\u7570\u5f62\u6210\uff09\u3001\u6210\u9577\u9045\u5ef6\u3001\u767a\u9054\u7570\u5e38\u306a\u3069\u304c\u521d\u671f\u306e\u8a3a\u65ad\u624b\u304c\u304b\u308a\u3068\u306a\u308a\u307e\u3059\u3002\u8a3a\u65ad\u306e\u78ba\u5b9a\u306b\u306f\u5206\u5b50\u907a\u4f1d\u5b66\u7684\u307e\u305f\u306f\u7d30\u80de\u907a\u4f1d\u5b66\u7684\u89e3\u6790\u304c\u5fc5\u8981\u3067\u3059\u3002\u6700\u3082\u4e00\u822c\u7684\u306b\u4f7f\u7528\u3055\u308c\u308b\u8a3a\u65ad\u65b9\u6cd5\u306b\u306f\u3001\u86cd\u5149 in situ \u30cf\u30a4\u30d6\u30ea\u30c0\u30a4\u30bc\u30fc\u30b7\u30e7\u30f3\uff08FISH\uff09\u3084\u30b2\u30ce\u30e0\u30ef\u30a4\u30c9\u67d3\u8272\u4f53<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u89e3\u6790\uff08CMA\uff09\u304c\u542b\u307e\u308c\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u624b\u6cd5\u306f\u3001\u67d3\u8272\u4f53\u6b20\u5931\u306e\u5927\u304d\u3055\u3084\u4f4d\u7f6e\u3092\u6b63\u78ba\u306b\u7279\u5b9a\u3057\u3001\u8a3a\u65ad\u3092\u78ba\u5b9a\u3059\u308b\u306e\u306b\u5f79\u7acb\u3061\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3055\u3089\u306b\u3001\u8133\u6ce2\u691c\u67fb\uff08EEG\uff09\u306f\u8a3a\u65ad\u30d7\u30ed\u30bb\u30b9\u3067\u983b\u7e41\u306b\u4f7f\u7528\u3055\u308c\u307e\u3059\u3002WHS\u60a3\u8005\u306e\u7d0490%\u306b\u7279\u5fb4\u7684\u306a\u8133\u6ce2\u30d1\u30bf\u30fc\u30f3\u304c\u898b\u3089\u308c\u3001\u3053\u308c\u3089\u306f\u3057\u3070\u3057\u3070\u767a\u4f5c\u6d3b\u52d5\u3068\u95a2\u9023\u3057\u3066\u3044\u307e\u3059\u3002\u307e\u305f\u3001WHS\u306b\u306f\u6210\u9577\u969c\u5bb3\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3001\u9854\u306e\u5f62\u614b\u7570\u5e38\u306a\u3069\u591a\u69d8\u306a\u75c7\u72b6\u304c\u95a2\u9023\u3057\u3066\u3044\u308b\u305f\u3081\u3001\u985e\u4f3c\u3059\u308b\u75c7\u5019\u7fa4\u3068\u306e\u9451\u5225\u8a3a\u65ad\u304c\u91cd\u8981\u3067\u3059\u3002\u8003\u616e\u3059\u3079\u304d\u4ed6\u306e\u75be\u60a3\u306b\u306f\u3001\u30bb\u30c3\u30b1\u30eb\u75c7\u5019\u7fa4\u3001CHARGE\u75c7\u5019\u7fa4\u3001\u30b9\u30df\u30b9\u30fb\u30ec\u30f3\u30ea\u30fb\u30aa\u30d4\u30c3\u30c4\u75c7\u5019\u7fa4\u3001\u30aa\u30d4\u30c3\u30c4G\/BBB\u75c7\u5019\u7fa4\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/williams_beuren\/\">\u30a6\u30a3\u30ea\u30a2\u30e0\u30ba\u75c7\u5019\u7fa4<\/a>\u3001\u30ec\u30c3\u30c8\u75c7\u5019\u7fa4\u3001\u30a2\u30f3\u30b8\u30a7\u30eb\u30de\u30f3\u75c7\u5019\u7fa4\u3001\u30b9\u30df\u30b9\u30fb\u30de\u30b2\u30cb\u30b9\u75c7\u5019\u7fa4\u306a\u3069\u304c\u3042\u308a\u307e\u3059\u3002\u6a19\u7684\u578b\u30b2\u30ce\u30e0\u89e3\u6790\u306f\u3001\u3053\u308c\u3089\u306e\u75be\u60a3\u306e\u9451\u5225\u3084\u7279\u5b9a\u306b\u5f79\u7acb\u3064\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6b63\u78ba\u306a\u8a3a\u65ad\u306f\u3001\u60a3\u8005\u304c\u9069\u5207\u306a\u533b\u7642\u30b1\u30a2\u3092\u53d7\u3051\u308b\u3053\u3068\u3001\u307e\u305f\u5bb6\u65cf\u304c\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3092\u901a\u3058\u3066\u75be\u60a3\u306b\u3064\u3044\u3066\u7406\u89e3\u3092\u6df1\u3081\u308b\u3053\u3068\u3092\u53ef\u80fd\u306b\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:13px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n    <a href=\"\/nipt\/smith-lemli-opitz-dhcr7-overview\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u30b9\u30df\u30b9\u30fb\u30ec\u30e0\u30ea\u30fb\u30aa\u30d4\u30c3\u30c4\u75c7\u5019\u7fa4\u3010DHCR7\u3011 <\/div>\n          <div class=\"blog-card-excerpt\">\u30b9\u30df\u30b9\u30fb\u30ec\u30e0\u30ea\u30fb\u30aa\u30d4\u30c3\u30c4\u75c7\u5019\u7fa4\uff08SLOS\uff09\u306e\u75c7\u72b6\u30fb\u539f\u56e0\u30fb\u6cbb\u7642\u30fb\u691c\u67fb\u65b9\u6cd5\u3092\u308f\u304b\u308a\u3084\u3059\u304f\u89e3\u8aac\u3002\u4fdd\u8b77\u8005\u5411\u3051\u306e\u5b89\u5fc3\u3067\u304d\u308b\u60c5\u5831\u63d0\u4f9b\uff5c\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af...<\/div>\n      <\/div>\n    <\/a>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u598a\u5a20\u4e2d\u306e\u30ea\u30b9\u30af\u7ba1\u7406\u306b<br \/>\nNIPT\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p>&nbsp;<\/p>\n<\/div>\n<\/div>\n\n\n\n<div style=\"height:13px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%96%BE%E6%82%A3%E3%81%AE%E7%97%87%E7%8A%B6%E3%81%A8%E7%AE%A1%E7%90%86%E6%96%B9%E6%B3%95\"><\/span>\u75be\u60a3\u306e\u75c7\u72b6\u3068\u7ba1\u7406\u65b9\u6cd5<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/wolf-hirschhorn_syndrome\/\">\u30a6\u30eb\u30d5\u30fb\u30d2\u30eb\u30b7\u30e5\u30db\u30fc\u30f3\u75c7\u5019\u7fa4<\/a>\uff08Wolf-Hirschhorn syndrome, WHS\uff09\u306f\u30014\u756a\u67d3\u8272\u4f53\u306e\u77ed\u8155\uff084p16.3\uff09\u306e\u4e00\u90e8\u304c\u6b20\u5931\u3059\u308b\u3053\u3068\u3067\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u7a00\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002\u3053\u306e\u75be\u60a3\u306f\u3001\u6b20\u5931\u306e\u5927\u304d\u3055\u3084\u4f4d\u7f6e\u306b\u3088\u3063\u3066\u75c7\u72b6\u304c\u7570\u306a\u308a\u3001\u8eab\u4f53\u7684\u3001\u767a\u9054\u7684\u3001\u795e\u7d4c\u5b66\u7684\u306a\u5e45\u5e83\u3044\u554f\u984c\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002WHS\u306f\u3001\u6210\u9577\u306e\u9045\u308c\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3001\u72ec\u7279\u306a\u9854\u306e\u7279\u5fb4\u3001\u305d\u306e\u4ed6\u306e\u533b\u5b66\u7684\u5408\u4f75\u75c7\u306a\u3069\u3001\u5f71\u97ff\u3092\u53d7\u3051\u305f\u4eba\u3005\u306b\u3068\u3063\u3066\u5927\u304d\u306a\u8ab2\u984c\u3092\u4f34\u3046\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>WHS\u306e\u7279\u5fb4\u306e\u4e00\u3064\u306f\u3001\u51fa\u751f\u524d\u304a\u3088\u3073\u51fa\u751f\u5f8c\u306e\u6210\u9577\u969c\u5bb3\u3067\u3059\u3002\u3053\u308c\u306b\u3088\u308a\u4f4e\u51fa\u751f\u4f53\u91cd\u3084\u4e73\u5150\u671f\u306e\u4f53\u91cd\u5897\u52a0\u306e\u9045\u308c\u304c\u898b\u3089\u308c\u307e\u3059\u3002\u4f4e\u7b4b\u7dca\u5f35\uff08\u7b4b\u8089\u306e\u7dca\u5f35\u304c\u4f4e\u3044\u72b6\u614b\uff09\u304c\u539f\u56e0\u3068\u306a\u308b\u6442\u98df\u56f0\u96e3\u304c\u4e00\u822c\u7684\u3067\u3001\u6210\u9577\u969c\u5bb3\uff08\u4f53\u91cd\u3084\u8eab\u9577\u304c\u5897\u3048\u306a\u3044\u72b6\u614b\uff09\u3092\u5f15\u304d\u8d77\u3053\u3059\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u306e\u6210\u9577\u306e\u9045\u308c\u306f\u751f\u6daf\u306b\u308f\u305f\u308a\u7d9a\u304d\u3001\u4f4e\u8eab\u9577\u3084\u75e9\u305b\u305f\u4f53\u683c\u3092\u7279\u5fb4\u3068\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>WHS\u306e\u3082\u3046\u4e00\u3064\u306e\u91cd\u8981\u306a\u7279\u5fb4\u306f\u3001\u9854\u9762\u306e\u7570\u5e38\u3067\u3059\u3002\u5178\u578b\u7684\u306a\u7279\u5fb4\u306b\u306f\u3001\u984d\u307e\u3067\u7d9a\u304f\u5e83\u3044\u9f3b\u6881\uff08\u300c\u30ae\u30ea\u30b7\u30e3\u306e\u6226\u58eb\u306e\u30d8\u30eb\u30e1\u30c3\u30c8\u300d\u3068\u547c\u3070\u308c\u308b\u5916\u89b3\uff09\u3001\u5c0f\u982d\u75c7\uff08\u982d\u90e8\u304c\u5c0f\u3055\u3044\u72b6\u614b\uff09\u3001\u9ad8\u3044\u7709\u5f13\u3001\u5e83\u3044\u773c\u9593\u8ddd\u96e2\uff08\u773c\u9593\u89e3\u96e2\uff09\u3001\u77ed\u3044\u4eba\u4e2d\uff08\u9f3b\u3068\u4e0a\u5507\u306e\u9593\u306e\u6e9d\uff09\u3001\u8033\u306e\u5f62\u614b\u4e0d\u5168\uff08\u8033\u306e\u304f\u307c\u307f\u3084\u4ed8\u5c5e\u7269\uff09\u3001\u4e0b\u5411\u304d\u306e\u53e3\u89d2\u3001\u5c0f\u984e\u75c7\uff08\u984e\u304c\u5c0f\u3055\u3044\u72b6\u614b\uff09\u306a\u3069\u304c\u3042\u308a\u307e\u3059\u3002\u4e00\u90e8\u306e\u4eba\u306b\u306f\u3001\u53e3\u5507\u88c2\u3084\u53e3\u84cb\u88c2\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u767a\u9054\u306e\u9045\u308c\u306f\u3001\u904b\u52d5\u80fd\u529b\u304a\u3088\u3073\u8a8d\u77e5\u80fd\u529b\u306e\u4e21\u65b9\u306b\u5f71\u97ff\u3092\u53ca\u307c\u3057\u307e\u3059\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u306f\u901a\u5e38\u4e2d\u7b49\u5ea6\u304b\u3089\u91cd\u5ea6\u3067\u3042\u308a\u3001\u7cbe\u795e\u904b\u52d5\u767a\u9054\u306e\u9045\u308c\u306f\u9855\u8457\u3067\u3059\u3002\u591a\u304f\u306e\u5b50\u3069\u3082\u306f\u3001\u6b69\u884c\u3084\u81ea\u5206\u3067\u98df\u4e8b\u3092\u3059\u308b\u3001\u670d\u3092\u7740\u308b\u3068\u3044\u3063\u305f\u57fa\u672c\u7684\u306a\u767a\u9054\u306e\u30de\u30a4\u30eb\u30b9\u30c8\u30fc\u30f3\u3092\u9054\u6210\u3067\u304d\u305a\u3001\u8a00\u8a9e\u767a\u9054\u3082\u6700\u5c0f\u9650\u306b\u3068\u3069\u307e\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002\u307b\u3068\u3093\u3069\u306e\u4eba\u306f\u3001\u5589\u97f3\u3084\u7c21\u5358\u306a\u97f3\u3067\u306e\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u304c\u4e3b\u3067\u3001\u57fa\u672c\u7684\u306a\u6587\u7ae0\u3092\u8a71\u305b\u308b\u4eba\u306f\u3054\u304f\u5c11\u6570\u3067\u3059\u3002<\/p>\n\n\n\n<div style=\"height:14px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/28793493_s.jpg\" alt=\"\u5b50\u4f9b\u3092\u62b1\u3044\u3066\u3044\u308b\u5973\u6027\" class=\"wp-image-88004\"\/><\/figure><\/div>\n\n\n<div style=\"height:21px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u3066\u3093\u304b\u3093\u306f\u3001WHS\u306b\u95a2\u9023\u3059\u308b\u6700\u3082\u6df1\u523b\u306a\u795e\u7d4c\u5b66\u7684\u5408\u4f75\u75c7\u306e\u4e00\u3064\u3067\u3001\u60a3\u8005\u306e90%\u4ee5\u4e0a\u306b\u5f71\u97ff\u3092\u53ca\u307c\u3057\u307e\u3059\u3002\u767a\u4f5c\u306f\u901a\u5e38\u3001\u751f\u5f8c3\u5e74\u4ee5\u5185\u306b\u59cb\u307e\u308a\u3001\u7279\u306b\u751f\u5f8c6\uff5e12\u304b\u6708\u3067\u6700\u3082\u591a\u304f\u898b\u3089\u308c\u307e\u3059\u3002\u5168\u822c\u6027\u5f37\u76f4\u9593\u4ee3\u767a\u4f5c\u304c\u6700\u3082\u4e00\u822c\u7684\u3067\u3001\u6b21\u3044\u3067\u5f37\u76f4\u767a\u4f5c\u3001\u610f\u8b58\u969c\u5bb3\u3092\u4f34\u3046\u7126\u70b9\u767a\u4f5c\u3001\u9593\u4ee3\u767a\u4f5c\u304c\u898b\u3089\u308c\u307e\u3059\u3002\u767a\u4f5c\u306f\u3057\u3070\u3057\u3070\u767a\u71b1\u3084\u611f\u67d3\u75c7\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u3001\u7d04\u534a\u6570\u306e\u5b50\u3069\u3082\u304c\u91cd\u7a4d\u72b6\u614b\uff08\u767a\u4f5c\u304c\u9577\u6642\u9593\u7d9a\u304f\u72b6\u614b\uff09\u3092\u7d4c\u9a13\u3057\u3001\u751f\u547d\u3092\u8105\u304b\u3059\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002\u3057\u304b\u3057\u3001\u65e9\u671f\u8a3a\u65ad\u3068\u30d5\u30a7\u30ce\u30d0\u30eb\u30d3\u30bf\u30fc\u30eb\u3001\u30d0\u30eb\u30d7\u30ed\u9178\u3001\u30ec\u30d9\u30c1\u30e9\u30bb\u30bf\u30e0\u306a\u3069\u306e\u85ac\u7269\u306b\u3088\u308b\u9069\u5207\u306a\u6cbb\u7642\u3092\u53d7\u3051\u308b\u3053\u3068\u3067\u3001\u767a\u4f5c\u3092\u52b9\u679c\u7684\u306b\u7ba1\u7406\u3067\u304d\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>WHS\u306b\u95a2\u9023\u3059\u308b\u305d\u306e\u4ed6\u306e\u533b\u5b66\u7684\u5408\u4f75\u75c7\u3068\u3057\u3066\u3001\u8133\u6881\u306e\u83f2\u8584\u5316\u306a\u3069\u306e\u4e2d\u67a2\u795e\u7d4c\u7cfb\u306e\u69cb\u9020\u7684\u7570\u5e38\u3001\u7d0450%\u306e\u75c7\u4f8b\u3067\u898b\u3089\u308c\u308b\u5148\u5929\u6027\u5fc3\u75be\u60a3\u3001\u810a\u690e\u5074\u5f2f\u3084\u808b\u9aa8\u306e\u7652\u5408\u306a\u3069\u306e\u9aa8\u683c\u7570\u5e38\u3001\u518d\u767a\u6027\u306e\u611f\u67d3\u75c7\u304c\u3042\u308a\u307e\u3059\u3002\u307e\u305f\u3001\u8996\u899a\u3084\u8074\u899a\u306e\u969c\u5bb3\u3001\u6b6f\u5217\u4e0d\u6b63\u3001\u7537\u6027\u306b\u304a\u3051\u308b\u5c3f\u9053\u4e0b\u88c2\u3084\u505c\u7559\u7cbe\u5de3\u3068\u3044\u3063\u305f\u6ccc\u5c3f\u751f\u6b96\u5668\u306e\u7570\u5e38\u3082\u983b\u7e41\u306b\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u7279\u306bIgA\u3084IgG2\u4e9c\u578b\u306b\u95a2\u9023\u3059\u308b\u514d\u75ab\u4e0d\u5168\u306f\u3001\u547c\u5438\u5668\u611f\u67d3\u75c7\u3084\u5c3f\u8def\u611f\u67d3\u75c7\u306e\u611f\u53d7\u6027\u3092\u9ad8\u3081\u307e\u3059\u3002<\/p>\n\n\n\n<p>WHS\u306e\u7ba1\u7406\u306b\u306f\u3001\u500b\u3005\u306e\u30cb\u30fc\u30ba\u306b\u5408\u308f\u305b\u305f\u5305\u62ec\u7684\u306a\u591a\u8077\u7a2e\u30a2\u30d7\u30ed\u30fc\u30c1\u304c\u5fc5\u8981\u3067\u3059\u3002\u6210\u9577\u3068\u767a\u9054\u3092\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0\u3059\u308b\u305f\u3081\u306b\u3001\u5c02\u9580\u306e\u6210\u9577\u30c1\u30e3\u30fc\u30c8\u3092\u4f7f\u7528\u3057\u305f\u5c0f\u5150\u79d1\u533b\u306b\u3088\u308b\u9577\u671f\u7684\u306a\u30b1\u30a2\u304c\u4e0d\u53ef\u6b20\u3067\u3059\u3002\u6442\u98df\u56f0\u96e3\u306b\u306f\u6804\u990a\u30b5\u30dd\u30fc\u30c8\u3084\u9006\u6d41\u306b\u5bfe\u3059\u308b\u533b\u7642\u51e6\u7f6e\u304c\u5fc5\u8981\u306b\u306a\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002\u53e3\u84cb\u88c2\u3001\u5148\u5929\u6027\u5fc3\u75be\u60a3\u3001\u8996\u899a\u30fb\u8074\u899a\u306e\u554f\u984c\u3001\u814e\u81d3\u3084\u809d\u81d3\u306e\u6a5f\u80fd\u306b\u95a2\u3059\u308b\u65e9\u671f\u8a55\u4fa1\u304c\u91cd\u8981\u3067\u3059\u3002\u7279\u306b\u5c3f\u8def\u611f\u67d3\u75c7\u3084\u4e2d\u8033\u306e\u7570\u5e38\u306a\u3069\u3001\u7e70\u308a\u8fd4\u3055\u308c\u308b\u611f\u67d3\u75c7\u306b\u306f\u8fc5\u901f\u306a\u8a55\u4fa1\u3068\u6cbb\u7642\u304c\u6c42\u3081\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u65e9\u671f\u4ecb\u5165\u7642\u6cd5\u3068\u3057\u3066\u3001\u7406\u5b66\u7642\u6cd5\u3001\u4f5c\u696d\u7642\u6cd5\u3001\u8a00\u8a9e\u7642\u6cd5\u304c\u904b\u52d5\u6280\u80fd\u3084\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u80fd\u529b\u3001\u5168\u4f53\u7684\u306a\u751f\u6d3b\u306e\u8cea\u3092\u5411\u4e0a\u3055\u305b\u308b\u305f\u3081\u306b\u91cd\u8981\u3067\u3059\u3002\u9069\u5207\u306a\u6559\u80b2\u652f\u63f4\u3092\u884c\u3046\u305f\u3081\u306b\u3001\u6559\u80b2\u7684\u306a\u8a55\u4fa1\u3082\u884c\u3046\u3079\u304d\u3067\u3059\u3002\u307e\u305f\u3001\u907a\u4f1d\u5b66\u7684\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3092\u53d7\u3051\u308b\u3053\u3068\u3067\u3001\u5bb6\u65cf\u306f\u907a\u4f1d\u30d1\u30bf\u30fc\u30f3\u3084\u5c06\u6765\u306e\u598a\u5a20\u306b\u304a\u3051\u308b\u30ea\u30b9\u30af\u306b\u3064\u3044\u3066\u7406\u89e3\u3092\u6df1\u3081\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>WHS\u306f\u5927\u304d\u306a\u8ab2\u984c\u3092\u4f34\u3044\u307e\u3059\u304c\u3001\u65e9\u671f\u8a3a\u65ad\u3068\u4e00\u8cab\u3057\u305f\u30b1\u30a2\u306b\u3088\u308a\u3001\u60a3\u8005\u306e\u5065\u5eb7\u3068\u751f\u6d3b\u306e\u8cea\u3092\u5927\u5e45\u306b\u6539\u5584\u3059\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059\u3002\u9069\u5207\u306a\u533b\u7642\u4ecb\u5165\u3068\u652f\u63f4\u7642\u6cd5\u3092\u901a\u3058\u3066\u3001\u3088\u308a\u826f\u3044\u4e88\u5f8c\u304c\u671f\u5f85\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:10px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u598a\u5a20\u4e2d\u306e\u30ea\u30b9\u30af\u7ba1\u7406\u306b<br \/>\nNIPT\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p>&nbsp;<\/p>\n<\/div>\n<\/div>\n\n\n\n<div style=\"height:12px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%B0%86%E6%9D%A5%E3%81%AE%E8%A6%8B%E9%80%9A%E3%81%97\"><\/span>\u5c06\u6765\u306e\u898b\u901a\u3057<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/wolf-hirschhorn_syndrome\/\">\u30a6\u30eb\u30d5\u30fb\u30d2\u30eb\u30b7\u30e5\u30db\u30fc\u30f3\u75c7\u5019\u7fa4<\/a>\uff08Wolf-Hirschhorn Syndrome, 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style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u598a\u5a20\u4e2d\u306e\u30ea\u30b9\u30af\u7ba1\u7406\u306b<br \/>\nNIPT\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p>&nbsp;<\/p>\n<\/div>\n<\/div>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%82%82%E3%81%A3%E3%81%A8%E7%9F%A5%E3%82%8A%E3%81%9F%E3%81%84%E6%96%B9%E3%81%B8\"><\/span>\u3082\u3063\u3068\u77e5\u308a\u305f\u3044\u65b9\u3078<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u3010\u5199\u771f\u3042\u308a\u30fb\u82f1\u8a9e\u3011\u30e6\u30cb\u30fc\u30af\uff08Unique\uff09\u306b\u3088\u308bWolf-Hirschhorn\u75c7\u5019\u7fa4\u306b\u95a2\u3059\u308b\u60c5\u5831<a href=\"https:\/\/rarechromo.org\/media\/information\/Chromosome%20%204\/Wolf-Hirschhorn%20Syndrome%202022%20FTNW.pdf\">\u30b7\u30fc\u30c8<\/a><\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%BC%95%E7%94%A8%E6%96%87%E7%8C%AE\"><\/span>\u5f15\u7528\u6587\u732e<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/doi.org\/10.1002\/ajmg.c.31449\">Battaglia, A., Carey, J. C., &amp; South, S. T. (2015). Wolf-Hirschhorn syndrome: A review and update. <em>American journal of medical genetics. Part C, Seminars in medical genetics<\/em>, <em>169<\/em>(3), 216\u2013223. https:\/\/doi.org\/10.1002\/ajmg.c.31449<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.seizure.2022.12.001\">Paprocka, J., Kamini\u00f3w, K., Yetkin, O., Tekturk, P., Baykan, B., Leiz, S., Kluger, G., &amp; Striano, P. (2024). Clinical and epilepsy characteristics in Wolf-Hirschhorn syndrome (4p-): A review. <em>Seizure: European Journal of Epilepsy<\/em>, <em>116<\/em>, 14\u201323. https:\/\/doi.org\/10.1016\/j.seizure.2022.12.001<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1002\/mgg3.1546\">Mekkawy, M. K., Kamel, A. K., Thomas, M. M., Ashaat, E. A., Zaki, M. S., Eid, O. M., Ismail, S., Hammad, S. A., Megahed, H., ElAwady, H., Refaat, K. M., Hussien, S., Helmy, N., Abd Allah, S. G., Mohamed, A. M., &amp; El Ruby, M. O. (2021). Clinical and genetic characterization of ten Egyptian patients with Wolf\u2013Hirschhorn syndrome and review of literature. <em>Molecular Genetics &amp; Genomic Medicine<\/em>, <em>9<\/em>(2), e1546. https:\/\/doi.org\/10.1002\/mgg3.1546<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.3390\/children8090751\">Gavril, E. -C., Luca, A. C., Curpan, A. -S., Popescu, R., Resmerita, I., Panzaru, M. C., Butnariu, L. I., Gorduza, E. V., Gramescu, M., &amp; Rusu, C. (2021). Wolf-Hirschhorn Syndrome: Clinical and Genetic Study of 7 New Cases, and Mini Review. <em>Children<\/em>, <em>8<\/em>(9), 751. https:\/\/doi.org\/10.3390\/children8090751<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.orpha.net\/en\/disease\/detail\/280?name=Wolf-Hirschhorn&amp;mode=name\">Orphanet. (Last updated May 2021). <em>Wolf-Hirschhorn syndrome.<\/em> Reviewed by Prof. Agatino Battaglia. Retrieved from https:\/\/www.orpha.net\/en\/disease\/detail\/280?name=Wolf-Hirschhorn&amp;mode=name<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1093\/nar\/gkae974\">Perez, G., Barber, G. P., Benet-Pages, A., Casper, J., Clawson, H., Diekhans, M., Fischer, C., Gonzalez, J. N., Hinrichs, A. S., Lee, C. M., Nassar, L. R., Raney, B. J., Speir, M. L., van Baren, M. J., Vaske, C. J., Haussler, D., Kent, W. J., &amp; Haeussler, M. (2024). The UCSC Genome Browser database: 2025 update. Nucleic Acids Research, gkae974. https:\/\/doi.org\/10.1093\/nar\/gkae974<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1093\/nar\/gkad1049\">Harrison, P. W., Amode, M. R., Austine-Orimoloye, O., Azov, A. G., Barba, M., Barnes, I., Becker, A., Bennett, R., Berry, A., Bhai, J., Bhurji, S. K., Boddu, S., Branco Lins, P. R., Brooks, L., Budhanuru Ramaraju, S., Campbell, L. I., Carbajo Martinez, M., Charkhchi, M., Chougule, K., \u2026 Yates, A. D. (2024). Ensembl 2024. Nucleic Acids Research, 52(D1), D891\u2013D899. https:\/\/doi.org\/10.1093\/nar\/gkad1049<\/a><\/li>\n<\/ul>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u598a\u5a20\u4e2d\u306e\u30ea\u30b9\u30af\u7ba1\u7406\u306b<br \/>\nNIPT\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p>&nbsp;<\/p>\n<\/div>\n<\/div>\n","protected":false},"excerpt":{"rendered":"\u3053\u306e\u8a18\u4e8b\u306e\u307e\u3068\u3081\u30a6\u30eb\u30d5\u30fb\u30d2\u30eb\u30b7\u30e5\u30db\u30fc\u30f3\u75c7&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/wolf-hirschhorn_syndrome\/\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":101,"featured_media":88946,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[58],"tags":[33,43,49,73],"class_list":["post-83437","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-genetic-disorder","tag-symptom","tag-gene","tag-genetic-disease","tag-deletion-syndrome"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/83437","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/users\/101"}],"replies":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/comments?post=83437"}],"version-history":[{"count":25,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/83437\/revisions"}],"predecessor-version":[{"id":109542,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/83437\/revisions\/109542"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/88946"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=83437"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=83437"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=83437"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}