{"id":83441,"date":"2024-11-14T12:06:38","date_gmt":"2024-11-14T03:06:38","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=83441"},"modified":"2025-08-08T17:11:29","modified_gmt":"2025-08-08T08:11:29","slug":"williams_beuren","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/williams_beuren\/","title":{"rendered":"Williams-Beuren\u75c7\u5019\u7fa4\uff08\u30a6\u30a3\u30ea\u30a2\u30e0\u30ba\u75c7\u5019\u7fa4\uff09\u306b\u3064\u3044\u3066"},"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\/williams_beuren\/\">\u30a6\u30a3\u30ea\u30a2\u30e0\u30ba\u75c7\u5019\u7fa4<\/a> (Williams Syndrome, WS) \u306f\u3001\u7a00\u5c11\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3042\u308a\u3001\u795e\u7d4c\u767a\u9054\u3084\u8eab\u4f53\u7684\u7279\u5fb4\u3001\u5fc3\u8840\u7ba1\u7cfb\u3084\u5185\u5206\u6ccc\u7cfb\u306e\u554f\u984c\u304c\u542b\u307e\u308c\u307e\u3059\u3002\u3053\u306e\u8a18\u4e8b\u3067\u306f\u3001WS\u306e\u75c7\u72b6\u3084\u8a3a\u65ad\u3001\u6cbb\u7642\u306b\u95a2\u3059\u308b\u6700\u65b0\u306e\u60c5\u5831\u3092\u63d0\u4f9b\u3057\u307e\u3059\u3002\u65e9\u671f\u8a3a\u65ad\u3084\u5305\u62ec\u7684\u30b1\u30a2\u304c\u91cd\u8981\u3067\u3042\u308a\u3001\u60a3\u8005\u3068\u5bb6\u65cf\u304c\u3088\u308a\u826f\u3044\u751f\u6d3b\u3092\u9001\u308b\u305f\u3081\u306e\u30b5\u30dd\u30fc\u30c8\u65b9\u6cd5\u306b\u3064\u3044\u3066\u3082\u89e3\u8aac\u3057\u307e\u3059\u3002<\/p><\/div>\n\n\n\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_83 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\/williams_beuren\/#%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\/williams_beuren\/#%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\/williams_beuren\/#%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\/williams_beuren\/#%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\/williams_beuren\/#%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\/williams_beuren\/#%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\/7q11.23-hgtIdeo_genome_93c07_b20020-1024x23.png\" alt=\"7q11.23\" class=\"wp-image-88871\"\/><\/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\/williams_beuren\/\">\u30a6\u30a3\u30ea\u30a2\u30e0\u30ba\u75c7\u5019\u7fa4<\/a>\uff08Williams Syndrome, WS\uff09\u306f\u3001\u7a00\u5c11\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3001\u8eab\u4f53\u306e\u3055\u307e\u3056\u307e\u306a\u30b7\u30b9\u30c6\u30e0\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u3001\u7279\u306b\u795e\u7d4c\u767a\u9054\u306b\u95a2\u9023\u3059\u308b\u554f\u984c\u304c\u7279\u5fb4\u3067\u3059\u3002\u3053\u306e\u75be\u60a3\u306f\u3001\u72ec\u7279\u306a\u5916\u898b\u7684\u7279\u5fb4\u3001\u767a\u9054\u4e0a\u306e\u8ab2\u984c\u3001\u533b\u5b66\u7684\u554f\u984c\u304c\u7d44\u307f\u5408\u308f\u3055\u3063\u305f\u72b6\u614b\u3068\u3057\u3066\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>WS\u306e\u60a3\u8005\u3055\u3093\u306b\u306f\u3001\u7279\u5fb4\u7684\u306a\u9854\u3064\u304d\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002\u5177\u4f53\u7684\u306b\u306f\u3001\u5e83\u3044\u984d\u3001\u3053\u3081\u304b\u307f\u306e\u72ed\u3055\u3001\u76ee\u306e\u5468\u56f2\u306e\u3075\u304f\u3089\u307f\u3001\u661f\u5f62\u3084\u7db2\u76ee\u6a21\u69d8\u306e\u8679\u5f69\uff08\u76ee\u306e\u8272\u306e\u90e8\u5206\uff09\u3001\u4e38\u307f\u3092\u5e2f\u3073\u305f\u5148\u7aef\u306e\u77ed\u3044\u4e0a\u5411\u304d\u306e\u9f3b\u3001\u9577\u3044\u4eba\u4e2d\uff08\u9f3b\u3068\u5507\u306e\u9593\u306e\u90e8\u5206\uff09\u3001\u5e83\u3044\u53e3\u3001\u3075\u3063\u304f\u3089\u3068\u3057\u305f\u5507\u3001\u305d\u3057\u3066\u8efd\u5ea6\u306e\u4e0b\u984e\u306e\u767a\u9054\u4e0d\u8db3\uff08\u5c0f\u984e\u75c7\uff09\u306a\u3069\u304c\u6319\u3052\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u767a\u9054\u3084\u77e5\u7684\u306a\u9045\u308c\u3082WS\u306e\u4e00\u822c\u7684\u306a\u7279\u5fb4\u3067\u3059\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u306f\u901a\u5e38\u8efd\u5ea6\u3067\u3059\u304c\u3001\u7279\u5b9a\u306e\u8a8d\u77e5\u30d7\u30ed\u30d5\u30a1\u30a4\u30eb\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u8a00\u8a9e\u80fd\u529b\u304c\u6bd4\u8f03\u7684\u5f37\u307f\u3068\u306a\u308b\u4e00\u65b9\u3067\u3001\u7a7a\u9593\u7684\u306a\u63a8\u7406\u529b\u306b\u306f\u8ab2\u984c\u304c\u3042\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002\u307e\u305f\u3001\u975e\u5e38\u306b\u4eba\u61d0\u3063\u3053\u3044\u6027\u683c\uff08\u904e\u5ea6\u306e\u89aa\u3057\u307f\u3084\u3059\u3055\uff09\u3084\u611f\u60c5\u306e\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u304c\u82e6\u624b\u3067\u3042\u308b\u3068\u3044\u3063\u305f\u72ec\u7279\u306e\u6027\u683c\u7684\u7279\u5fb4\u304c\u3057\u3070\u3057\u3070\u898b\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5fc3\u8840\u7ba1\u7cfb\u3078\u306e\u5f71\u97ff\u3082WS\u3067\u3088\u304f\u898b\u3089\u308c\u307e\u3059\u3002\u6700\u3082\u4e00\u822c\u7684\u306a\u5fc3\u75be\u60a3\u306f\u5927\u52d5\u8108\u5f01\u4e0a\u72ed\u7a84\uff08\u5927\u52d5\u8108\u5f01\u306e\u4e0a\u90e8\u306e\u72ed\u7a84\uff09\u3067\u3059\u3002\u3053\u306e\u307b\u304b\u3001\u80ba\u52d5\u8108\u5206\u679d\u72ed\u7a84\u3084\u9ad8\u8840\u5727\u306a\u3069\u304c\u542b\u307e\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u3055\u3089\u306b\u3001\u95a2\u7bc0\u306e\u67d4\u3089\u304b\u3055\u3084\u76ae\u819a\u306e\u4f38\u3073\u3084\u3059\u3055\u3068\u3044\u3063\u305f\u7d50\u5408\u7d44\u7e54\u306e\u7570\u5e38\u304c\u3042\u308a\u3001\u904b\u52d5\u80fd\u529b\u306e\u767a\u9054\u304c\u9045\u308c\u308b\u539f\u56e0\u3068\u306a\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002\u4f4e\u7b4b\u7dca\u5f35\uff08\u7b4b\u8089\u306e\u7dca\u5f35\u304c\u4f4e\u3044\u72b6\u614b\uff09\u3084\u904e\u5270\u306a\u95a2\u7bc0\u306e\u67d4\u8edf\u6027\u3082\u3001\u904b\u52d5\u767a\u9054\u306e\u9045\u308c\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5185\u5206\u6ccc\u7cfb\u306e\u554f\u984c\u3082WS\u306e\u91cd\u8981\u306a\u7279\u5fb4\u306e\u4e00\u3064\u3067\u3059\u3002\u601d\u6625\u671f\u304c\u65e9\u304f\u8a2a\u308c\u308b\uff08\u65e9\u767a\u601d\u6625\u671f\uff09\u3001\u8840\u6db2\u4e2d\uff08\u9ad8\u30ab\u30eb\u30b7\u30a6\u30e0\u8840\u75c7\uff09\u3084\u5c3f\u4e2d\uff08\u9ad8\u30ab\u30eb\u30b7\u30a6\u30e0\u5c3f\u75c7\uff09\u306e\u30ab\u30eb\u30b7\u30a6\u30e0\u6fc3\u5ea6\u304c\u4e0a\u6607\u3059\u308b\u3001\u7532\u72b6\u817a\u6a5f\u80fd\u4f4e\u4e0b\u75c7\u306a\u3069\u304c\u6319\u3052\u3089\u308c\u307e\u3059\u3002\u307e\u305f\u3001\u6210\u9577\u4e0d\u8db3\u304c\u4e00\u822c\u7684\u3067\u3001\u6210\u4eba\u6642\u306e\u8eab\u9577\u304c\u5e73\u5747\u3088\u308a\u3082\u4f4e\u304f\u306a\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002\u3055\u3089\u306b\u3001\u4e73\u5150\u671f\u306b\u306f\u6442\u98df\u969c\u5bb3\u304c\u898b\u3089\u308c\u3001\u4f53\u91cd\u306e\u5897\u52a0\u304c\u9045\u308c\u308b\u3053\u3068\u3082\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=\"427\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/24474970_s.jpg\" alt=\"\u5b89\u5b9a\u306a\u6301\u3061\u65b9\" class=\"wp-image-87719\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>WS\u306f\u3001\u304a\u3088\u305d7,500\u4eba\u306b1\u4eba\u306e\u5272\u5408\u3067\u898b\u3089\u308c\u308b\u75be\u60a3\u3067\u3001\u7537\u5973\u3068\u3082\u306b\u540c\u3058\u5272\u5408\u3067\u767a\u75c7\u3057\u307e\u3059\u3002\u3053\u306e\u75be\u60a3\u304c\u53ca\u307c\u3059\u5f71\u97ff\u306f\u5e83\u7bc4\u56f2\u306b\u308f\u305f\u308b\u305f\u3081\u3001\u60a3\u8005\u3055\u3093\u4e00\u4eba\u3072\u3068\u308a\u306e\u30cb\u30fc\u30ba\u306b\u5408\u308f\u305b\u305f\u591a\u8077\u7a2e\u9023\u643a\u306b\u3088\u308b\u5305\u62ec\u7684\u306a\u30b1\u30a2\u304c\u6c42\u3081\u3089\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\/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: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\/williams_beuren\/\">\u30a6\u30a3\u30ea\u30a2\u30e0\u30ba\u75c7\u5019\u7fa4<\/a>\uff08Williams Syndrome, WS\uff09\u3001\u307e\u305f\u306f\u30a6\u30a3\u30ea\u30a2\u30e0\u30ba\u30fb\u30d3\u30e5\u30fc\u30e9\u30f3\u75c7\u5019\u7fa4\u306f\u30017\u756a\u67d3\u8272\u4f53\u306e\u7279\u5b9a\u306e\u9818\u57df\uff087q11.23\uff09\u306b\u304a\u3051\u308b\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002\u3053\u306e\u6b20\u5931\u306fDNA\u306e1.5\uff5e1.8\u30e1\u30ac\u5869\u57fa\u5bfe\uff08Mb\uff09\u306e\u7bc4\u56f2\u306b\u53ca\u3073\u3001\u7d0425\uff5e28\u500b\u306e\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u6b20\u5931\u306f\u591a\u304f\u306e\u5834\u5408\u81ea\u7136\u306b\u767a\u751f\u3057\u3001\u89aa\u304b\u3089\u907a\u4f1d\u3059\u308b\u3053\u3068\u306f\u307b\u3068\u3093\u3069\u3042\u308a\u307e\u305b\u3093\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=\"517\" height=\"500\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/chr7-MddSfJbXVScYYCJQYcAAAOcK.png\" alt=\"ch7\" class=\"wp-image-88880\"\/><\/figure><\/div>\n\n\n<div style=\"height:14px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>WS\u306b\u5f71\u97ff\u3092\u53ca\u307c\u3059\u907a\u4f1d\u9818\u57df\u306f\u3001\u4f4e\u30b3\u30d4\u30fc\u7e70\u308a\u8fd4\u3057\u914d\u5217\uff08Low Copy Repeats, LCRs\uff09\u3068\u547c\u3070\u308c\u308b\u53cd\u5fa9\u914d\u5217\u306b\u631f\u307e\u308c\u3066\u3044\u307e\u3059\u3002\u5375\u5b50\u3084\u7cbe\u5b50\u3092\u4f5c\u308b\u969b\u306e\u7d30\u80de\u5206\u88c2\uff08\u6e1b\u6570\u5206\u88c2\uff09\u306e\u904e\u7a0b\u3067\u3001\u3053\u308c\u3089\u306e\u53cd\u5fa9\u914d\u5217\u304c\u975e\u5e38\u306b\u4f3c\u3066\u3044\u308b\u305f\u3081\u3001\u305a\u308c\u304c\u751f\u3058\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u306e\u305a\u308c\u306b\u3088\u308a\u4e0d\u5747\u7b49\u306a\u4ea4\u5dee\uff08\u907a\u4f1d\u5b50\u306e\u4ea4\u63db\uff09\u304c\u8d77\u3053\u308a\u3001\u305d\u306e\u7d50\u679cWS\u3092\u5f15\u304d\u8d77\u3053\u3059\u6b20\u5931\u304c\u751f\u3058\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6b20\u5931\u9818\u57df\u306b\u542b\u307e\u308c\u308b\u907a\u4f1d\u5b50\u306e\u4e2d\u3067\u3082\u3001\u30a8\u30e9\u30b9\u30c1\u30f3\u907a\u4f1d\u5b50\uff08ELN\uff09\u306f\u7279\u306b\u8a73\u3057\u304f\u7814\u7a76\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306e\u7247\u65b9\u306e\u30b3\u30d4\u30fc\u304c\u5931\u308f\u308c\u308b\u73fe\u8c61\uff08\u907a\u4f1d\u5b50\u534a\u6570\u4e0d\u5168\uff09\u306f\u3001\u52d5\u8108\u72ed\u7a84\uff08\u8840\u7ba1\u306e\u72ed\u7a84\uff09\u3068\u76f4\u63a5\u95a2\u9023\u3057\u3066\u304a\u308a\u3001WS\u306e\u4e00\u822c\u7684\u306a\u533b\u5b66\u7684\u7279\u5fb4\u306e\u4e00\u3064\u3067\u3059\u3002\u305d\u306e\u4ed6\u306e\u907a\u4f1d\u5b50\u3082\u5f71\u97ff\u3092\u53d7\u3051\u3066\u3044\u307e\u3059\u304c\u3001\u305d\u306e\u6b63\u78ba\u306a\u5f79\u5272\u306b\u3064\u3044\u3066\u306f\u5341\u5206\u306b\u306f\u89e3\u660e\u3055\u308c\u3066\u3044\u306a\u3044\u3082\u306e\u3082\u3042\u308a\u307e\u3059\u3002\u305f\u3060\u3057\u3001\u4e00\u90e8\u306e\u907a\u4f1d\u5b50\u3068\u75c7\u72b6\u3068\u306e\u95a2\u9023\u6027\u304c\u660e\u3089\u304b\u306b\u306a\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8907\u6570\u306e\u907a\u4f1d\u5b50\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u3053\u306e\u6b20\u5931\u306f\u3001WS\u306b\u898b\u3089\u308c\u308b\u8eab\u4f53\u7684\u7279\u5fb4\u3001\u767a\u9054\u4e0a\u306e\u8ab2\u984c\u3001\u533b\u5b66\u7684\u306a\u7279\u5fb4\u306e\u5e83\u7bc4\u306a\u7bc4\u56f2\u3092\u8aac\u660e\u3059\u308b\u3082\u306e\u3067\u3059\u3002\u305d\u306e\u305f\u3081\u3001\u8a3a\u65ad\u3084\u6cbb\u7642\u306b\u306f\u3001\u3055\u307e\u3056\u307e\u306a\u5206\u91ce\u306e\u5c02\u9580\u5bb6\u306b\u3088\u308b\u5305\u62ec\u7684\u306a\u30a2\u30d7\u30ed\u30fc\u30c1\u304c\u91cd\u8981\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<div style=\"text-align: center;\">\n    <a title=\"Williams Syndrome Association, CC BY-SA 4.0 &lt;https:\/\/creativecommons.org\/licenses\/by-sa\/4.0&gt;, via Wikimedia Commons\" href=\"https:\/\/commons.wikimedia.org\/wiki\/File:Four_kids_with_Williams_syndrome.jpg\">\n        <img decoding=\"async\" width=\"512\" alt=\"Four children with several facial features characteristic of Williams syndrome.\" src=\"https:\/\/upload.wikimedia.org\/wikipedia\/commons\/thumb\/e\/e5\/Four_kids_with_Williams_syndrome.jpg\/512px-Four_kids_with_Williams_syndrome.jpg?20230803011724\">\n    <\/a>\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\/williams_beuren\/\">\u30a6\u30a3\u30ea\u30a2\u30e0\u30ba\u75c7\u5019\u7fa4<\/a>\uff08Williams Syndrome, WS\uff09\u306e\u8a3a\u65ad\u306f\u3001\u7279\u5fb4\u7684\u306a\u8eab\u4f53\u7684\u304a\u3088\u3073\u767a\u9054\u7684\u306a\u7279\u5fb4\uff08\u8868\u73fe\u578b\uff09\u3092\u78ba\u8a8d\u3057\u3001\u907a\u4f1d\u5b50\u691c\u67fb\u306b\u3088\u3063\u3066\u78ba\u5b9a\u3055\u308c\u307e\u3059\u3002\u4e00\u822c\u7684\u306b\u4f7f\u7528\u3055\u308c\u308b\u907a\u4f1d\u5b50\u691c\u67fb\u306b\u306f\u3001\u300c\u86cd\u5149 in situ \u30cf\u30a4\u30d6\u30ea\u30c0\u30a4\u30bc\u30fc\u30b7\u30e7\u30f3\uff08FISH\uff09\u300d\u3084\u300c\u67d3\u8272\u4f53<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u89e3\u6790\u300d\u304c\u3042\u308a\u3001\u3053\u308c\u3089\u306e\u691c\u67fb\u30677q11.23\u9818\u57df\u306e\u7279\u5b9a\u306e\u907a\u4f1d\u5b50\u6b20\u5931\u3092\u691c\u51fa\u3067\u304d\u307e\u3059\u3002\u8fd1\u5e74\u306eDNA\u914d\u5217\u89e3\u6790\u6280\u8853\u306e\u9032\u6b69\u306b\u3088\u308a\u3001\u300c\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\u300d\u304c\u598a\u5a20\u4e2d\u306eWS\u306e\u8a3a\u65ad\u306b\u304a\u3044\u3066\u5b89\u5168\u3067\u4fe1\u983c\u6027\u306e\u9ad8\u3044\u9078\u629e\u80a2\u3068\u306a\u3063\u3066\u304a\u308a\u3001\u6bcd\u4f53\u3084\u80ce\u5150\u306b\u30ea\u30b9\u30af\u3092\u4e0e\u3048\u308b\u3053\u3068\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<div style=\"height:13px\" 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:13px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306f\u3001WS\u306e\u7ba1\u7406\u306b\u304a\u3044\u3066\u91cd\u8981\u3067\u3042\u308a\u3001\u5f71\u97ff\u3092\u53d7\u3051\u305f\u5bb6\u65cf\u306b\u63d0\u4f9b\u3055\u308c\u308b\u3079\u304d\u3067\u3059\u3002\u307b\u3068\u3093\u3069\u306eWS\u306e\u30b1\u30fc\u30b9\u306f\u81ea\u7136\u767a\u751f\u7684\uff08de novo\uff09\u3067\u3042\u308a\u3001\u89aa\u304b\u3089\u907a\u4f1d\u3059\u308b\u3082\u306e\u3067\u306f\u306a\u3044\u305f\u3081\u3001\u5c06\u6765\u306e\u598a\u5a20\u306b\u304a\u3051\u308b\u518d\u767a\u30ea\u30b9\u30af\u306f\u975e\u5e38\u306b\u4f4e\u304f\uff081%\u672a\u6e80\uff09\u306a\u308a\u307e\u3059\u3002\u3057\u304b\u3057\u3001WS\u306e\u60a3\u8005\u304c\u5b50\u3069\u3082\u3092\u6301\u3064\u5834\u5408\u300150%\u306e\u78ba\u7387\u3067\u907a\u4f1d\u5b50\u6b20\u5931\u304c\u5b50\u3069\u3082\u306b\u4f1d\u308f\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002\u3055\u3089\u306b\u3001\u5f71\u97ff\u3092\u53d7\u3051\u305f\u67d3\u8272\u4f53\u9818\u57df\u306b\u7279\u5b9a\u306e\u9006\u4f4d\u591a\u578b\uff08inversion polymorphism\uff09\u304c\u5b58\u5728\u3059\u308b\u3068\u3001WS\u306e\u5b50\u3069\u3082\u304c\u751f\u307e\u308c\u308b\u30ea\u30b9\u30af\u304c\u308f\u305a\u304b\u306b\u9ad8\u307e\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/genetic-counseling\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">NIPT\u306b\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306f\u5fc5\u8981\uff1f\u5185\u5bb9\u3084\u91cd\u8981\u6027\u3092\u89e3\u8aac <\/div>\n          <div class=\"blog-card-excerpt\">\u3053\u306e\u8a18\u4e8b\u3067\u306f\u3001NIPT\u306b\u304a\u3051\u308b\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u5fc5\u8981\u6027\u3084\u5177\u4f53\u7684\u306a\u5185\u5bb9\u306b\u3064\u3044\u3066\u89e3\u8aac\u3057\u307e\u3059\u3002\u691c\u67fb\u3092\u53d7\u3051\u308b\u524d\u306e\u6ce8\u610f\u70b9\u3084\u3001\u5f8c\u6094\u3057\u306a\u3044\u305f\u3081\u306e\u5224\u65ad\u57fa\u6e96...<\/div>\n      <\/div>\n    <\/a>\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\/williams_beuren\/\">\u30a6\u30a3\u30ea\u30a2\u30e0\u30ba\u75c7\u5019\u7fa4<\/a>\uff08Williams Syndrome, WS\uff09\u306f\u30017\u756a\u67d3\u8272\u4f53\u306e\u7279\u5b9a\u306eDNA\u9818\u57df\uff087q11.23\uff09\u306e\u6b20\u5931\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u8907\u96d1\u306a\u795e\u7d4c\u767a\u9054\u969c\u5bb3\u3067\u3059\u3002\u3053\u306e\u6b20\u5931\u306f\u901a\u5e38\u30011.5\u30e1\u30ac\u5869\u57fa\u5bfe\uff08Mb\uff09\u306e\u5927\u304d\u3055\u3067\u7d0495%\u306e\u30b1\u30fc\u30b9\u3067\u898b\u3089\u308c\u307e\u3059\u304c\u3001\u7d0420\u4f8b\u306b1\u4f8b\u3067\u306f1.84 Mb\u306e\u5927\u304d\u306a\u6b20\u5931\u304c\u78ba\u8a8d\u3055\u308c\u307e\u3059\u3002WS\u306f\u4f53\u306e\u8907\u6570\u306e\u30b7\u30b9\u30c6\u30e0\u306b\u5f71\u97ff\u3092\u53ca\u307c\u3057\u3001\u7279\u5fb4\u7684\u306a\u9854\u306e\u5f62\u614b\u3001\u767a\u9054\u306e\u9045\u308c\u3001\u8a8d\u77e5\u306e\u8ab2\u984c\u3001\u3055\u307e\u3056\u307e\u306a\u533b\u5b66\u7684\u554f\u984c\u304c\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p>WS\u306e\u60a3\u8005\u306b\u306f\u5168\u54e1\u3001\u7279\u5fb4\u7684\u306a\u9854\u3064\u304d\uff08\u9854\u9762\u7570\u5f62\u6210\uff09\u304c\u898b\u3089\u308c\u307e\u3059\u3002\u5e7c\u5150\u671f\u306b\u306f\u3001\u5185\u773c\u89d2\u306e\u3072\u3060\uff08\u76ee\u306e\u5185\u5074\u306e\u89d2\u306b\u3042\u308b\u76ae\u819a\u306e\u3072\u3060\uff09\u3001\u3075\u3063\u304f\u3089\u3068\u3057\u305f\u982c\u3001\u5e73\u5766\u306a\u9854\u306e\u8f2a\u90ed\u3001\u5c0f\u3055\u304f\u96e2\u308c\u305f\u6b6f\u306a\u3069\u306e\u7279\u5fb4\u304c\u3042\u308a\u307e\u3059\u3002\u6210\u9577\u3059\u308b\u3068\u3001\u9854\u304c\u7d30\u9577\u304f\u306a\u308a\u3001\u9996\u304c\u9577\u304f\u306a\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002\u767a\u9054\u306e\u7bc0\u76ee\uff08\u4f8b: \u6b69\u884c\u3001\u8a00\u8a9e\u7fd2\u5f97\uff09\u304c\u9045\u308c\u308b\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u306f\u7d0475%\u306e\u60a3\u8005\u306b\u898b\u3089\u308c\u307e\u3059\u3002\u8a8d\u77e5\u9762\u3067\u306f\u3001\u8a00\u8a9e\u3084\u77ed\u671f\u8a18\u61b6\u306b\u5f37\u307f\u304c\u3042\u308b\u4e00\u65b9\u3067\u3001\u8996\u7a7a\u9593\u8a8d\u8b58\u306e\u8ab2\u984c\u304c\u9855\u8457\u3067\u3059\u3002WS\u306e\u60a3\u8005\u306f\u4eba\u61d0\u3063\u3053\u3044\u6027\u683c\uff08\u904e\u5ea6\u306e\u89aa\u3057\u307f\u3084\u3059\u3055\uff09\u3092\u6301\u3061\u3001\u97f3\u697d\u3092\u6df1\u304f\u697d\u3057\u3080\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u97f3\u306b\u5bfe\u3059\u308b\u904e\u654f\u6027\uff08\u8074\u899a\u53cd\u5c04\u306e\u6b20\u5982\u306b\u3088\u308b\uff09\u304c\u3057\u3070\u3057\u3070\u898b\u3089\u308c\u307e\u3059\u3002\u307e\u305f\u3001\u611f\u60c5\u306e\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u304c\u96e3\u3057\u304f\u3001\u4e0d\u5b89\u969c\u5bb3\u3084\u6ce8\u610f\u6b20\u9665\u591a\u52d5\u6027\u969c\u5bb3\uff08<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/adhd-genetics-symptoms-support\/\">ADHD<\/a>\uff09\u306e\u6cbb\u7642\u304c\u5fc5\u8981\u306a\u5834\u5408\u304c50%\u7a0b\u5ea6\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\/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>WS\u60a3\u8005\u306e\u7d0480%\u304c\u5fc3\u8840\u7ba1\u75be\u60a3\u3092\u62b1\u3048\u3066\u304a\u308a\u3001\u6700\u3082\u4e00\u822c\u7684\u306a\u75c7\u72b6\u306f\u5927\u52d5\u8108\u5f01\u4e0a\u72ed\u7a84\uff08\u5927\u52d5\u8108\u5f01\u306e\u4e0a\u90e8\u306e\u72ed\u7a84\uff09\u3067\u300170%\u306e\u60a3\u8005\u306b\u898b\u3089\u308c\u307e\u3059\u3002\u305d\u306e\u4ed6\u306e\u5fc3\u8840\u7ba1\u75be\u60a3\u3068\u3057\u3066\u9ad8\u8840\u5727\uff0850%\uff09\u3084\u5927\u52d5\u8108\u5f01\u3084\u50e7\u5e3d\u5f01\u306e\u5909\u6027\u304c\u542b\u307e\u308c\u307e\u3059\u3002\u5185\u5206\u6ccc\u7cfb\u306e\u7570\u5e38\u3082\u3088\u304f\u898b\u3089\u308c\u300115\u201345%\u306e\u60a3\u8005\u306b\u9ad8\u30ab\u30eb\u30b7\u30a6\u30e0\u8840\u75c7\u3001\u8010\u7cd6\u80fd\u7570\u5e38\u307e\u305f\u306f2\u578b\u7cd6\u5c3f\u75c5\u300115\u201330%\u306b\u6f5c\u5728\u6027\u7532\u72b6\u817a\u6a5f\u80fd\u4f4e\u4e0b\u75c7\u300150%\u306b\u9aa8\u5bc6\u5ea6\u4f4e\u4e0b\uff08\u9aa8\u6e1b\u5c11\u75c7\u307e\u305f\u306f\u9aa8\u7c97\u3057\u3087\u3046\u75c7\uff09\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u8ffd\u52a0\u306e\u533b\u5b66\u7684\u554f\u984c\u3068\u3057\u3066\u306f\u3001\u8ef8\u6027\u4f4e\u7b4b\u7dca\u5f35\uff08\u4f53\u5e79\u306e\u7b4b\u8089\u306e\u5f31\u3055\uff09\u3068\u672b\u68a2\u9ad8\u7b4b\u7dca\u5f35\uff08\u56db\u80a2\u306e\u786c\u3055\uff09\u3001\u5897\u52a0\u3057\u305f\u8171\u53cd\u5c04\u3001\u5c0f\u8133\u6027\u904b\u52d5\u5931\u8abf\u3001\u9707\u3048\u3001\u6210\u9577\u9045\u5ef6\uff08\u6210\u9577\u7387\u304c\u901a\u5e38\u306e\u7d0475%\uff09\u3001\u5e7c\u5c11\u671f\u306e\u95a2\u7bc0\u306e\u67d4\u8edf\u6027\u3001\u6210\u9577\u5f8c\u306e\u95a2\u7bc0\u62d8\u7e2e\u3001\u6b69\u884c\u306e\u7570\u5e38\u3001\u810a\u690e\u306e\u554f\u984c\uff08\u8170\u690e\u524d\u5f2f\u75c7\u3001\u810a\u690e\u5f8c\u5f2f\u75c7\u3001\u5074\u5f2f\u75c7\uff09\u3001\u773c\u3001\u8033\u3001\u6b6f\u306e\u7570\u5e38\u3001\u7761\u7720\u969c\u5bb3\u3001\u6442\u98df\u56f0\u96e3\u3001\u6d88\u5316\u5668\u7cfb\u306e\u554f\u984c\u3001\u8180\u80f1\u61a9\u5ba4\u3001\u5c3f\u8def\u5947\u5f62\u3001\u5c3f\u8def\u611f\u67d3\u3001\u591c\u5c3f\u75c7\u306a\u3069\u304c\u6319\u3052\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>WS\u306b\u306f\u3001\u751f\u6daf\u306b\u308f\u305f\u308b\u591a\u8077\u7a2e\u306b\u3088\u308b\u5305\u62ec\u7684\u306a\u30a2\u30d7\u30ed\u30fc\u30c1\u304c\u5fc5\u8981\u3067\u3059\u3002\u7279\u306b\u3001\u751f\u5f8c1\u5e74\u4ee5\u5185\u306e\u5fc3\u81d3\u306e\u8a55\u4fa1\u3068\u3001\u751f\u5f8c2\u5e74\u4ee5\u5185\u306e\u8840\u4e2d\u30ab\u30eb\u30b7\u30a6\u30e0\u6fc3\u5ea6\u306e\u53b3\u5bc6\u306a\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0\u304c\u91cd\u8981\u3067\u3059\u3002\u307e\u305f\u3001\u624b\u8853\u6642\u306b\u306f\u5fc3\u8840\u7ba1\u5408\u4f75\u75c7\u306e\u30ea\u30b9\u30af\u304c\u9ad8\u3044\u305f\u3081\u3001\u8853\u524d\u30fb\u8853\u5f8c\u306e\u614e\u91cd\u306a\u8a08\u753b\u304c\u6c42\u3081\u3089\u308c\u307e\u3059\u3002\u8eab\u4f53\u7642\u6cd5\u3001\u4f5c\u696d\u7642\u6cd5\u3001\u8a00\u8a9e\u7642\u6cd5\u3092\u542b\u3080\u65e9\u671f\u4ecb\u5165\u30d7\u30ed\u30b0\u30e9\u30e0\u306f\u3001\u767a\u9054\u306e\u9045\u308c\u306b\u5bfe\u51e6\u3059\u308b\u305f\u3081\u306b\u91cd\u8981\u3067\u3059\u3002\u3055\u3089\u306b\u3001\u60a3\u8005\u672c\u4eba\u3001\u5bb6\u65cf\u3001\u4ecb\u8b77\u8005\u5411\u3051\u306e\u60c5\u5831\u63d0\u4f9b\u3084\u652f\u63f4\u30b0\u30eb\u30fc\u30d7\u3082\u3001\u751f\u6d3b\u306e\u8cea\u3092\u5411\u4e0a\u3055\u305b\u308b\u4e0a\u3067\u5f79\u7acb\u3061\u307e\u3059\u3002<\/p>\n\n\n\n<p>WS\u306e\u907a\u4f1d\u7684\u539f\u56e0\u306f\u3088\u304f\u7406\u89e3\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u305d\u306e\u591a\u69d8\u306a\u75c7\u72b6\u3092\u5f15\u304d\u8d77\u3053\u3059\u5206\u5b50\u30ec\u30d9\u30eb\u306e\u30e1\u30ab\u30cb\u30ba\u30e0\u306b\u3064\u3044\u3066\u306f\u3001\u307e\u3060\u591a\u304f\u304c\u672a\u89e3\u660e\u3067\u3059\u3002\u6700\u8fd1\u306e\u5168\u30b2\u30ce\u30e0\u7814\u7a76\u306b\u3088\u308a\u3001WS\u306b\u95a2\u9023\u3059\u308b\u53ef\u80fd\u6027\u306e\u3042\u308b\u7570\u5e38\u306a\u907a\u4f1d\u5b50\u7d4c\u8def\u304c\u7279\u5b9a\u3055\u308c\u3001\u4eca\u5f8c\u306e\u7814\u7a76\u3084\u6cbb\u7642\u6226\u7565\u306e\u958b\u767a\u306b\u3064\u306a\u304c\u308b\u53ef\u80fd\u6027\u304c\u793a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:12px\" 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<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\/williams_beuren\/\">\u30a6\u30a3\u30ea\u30a2\u30e0\u30ba\u75c7\u5019\u7fa4<\/a>\uff08Williams Syndrome, WS\uff09\u306e\u60a3\u8005\u306b\u304a\u3051\u308b\u5e73\u5747\u5bff\u547d\u306e\u6b63\u5f0f\u306a\u8a55\u4fa1\u306f\u307e\u3060\u884c\u308f\u308c\u3066\u3044\u307e\u305b\u3093\u304c\u3001\u5fc3\u8840\u7ba1\u7cfb\u306e\u5408\u4f75\u75c7\u304c\u4e3b\u306a\u6b7b\u4ea1\u539f\u56e0\u3068\u306a\u3063\u3066\u3044\u307e\u3059\u3002\u5fc3\u8840\u7ba1\u7cfb\u306e\u72ed\u7a84\uff08\u8840\u7ba1\u306e\u72ed\u307e\u308a\uff09\u306f\u7279\u306b\u751f\u5f8c5\u5e74\u9593\u3067\u9032\u884c\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u672b\u68a2\u80ba\u52d5\u8108\u72ed\u7a84\u306e\u3088\u3046\u306a\u4e00\u90e8\u306e\u75c7\u72b6\u306f\u81ea\u7136\u306b\u6539\u5584\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002WS\u306e\u60a3\u8005\u306e\u591a\u304f\u306f\u3001\u751f\u6daf\u306b\u308f\u305f\u3063\u3066\u81ea\u5b85\u3084\u8077\u5834\u3067\u306e\u533b\u5b66\u7684\u306a\u30b1\u30a2\u3084\u751f\u6d3b\u652f\u63f4\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u6700\u8fd1\u306e\u4fe1\u983c\u6027\u306e\u9ad8\u3044\u7814\u7a76\u3067\u306f\u3001\u5fc3\u8840\u7ba1\u624b\u8853\u3092\u53d7\u3051\u305fWS\u306e\u60a3\u8005\u306b\u304a\u3051\u308b\u9577\u671f\u7684\u306a\u826f\u597d\u306a\u4e88\u5f8c\u304c\u793a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u5148\u5929\u6027\u5fc3\u75be\u60a3\u306e\u624b\u8853\u304b\u3089\u6700\u521d\u306e5\u5e74\u9593\u3092\u7121\u4e8b\u306b\u904e\u3054\u3057\u305f\u5834\u5408\u3001\u305d\u306e\u5f8c30\u5e74\u306e\u751f\u5b58\u7387\u306f90%\u4ee5\u4e0a\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u6cbb\u7642\u65b9\u6cd5\u3084\u533b\u7642\u3078\u306e\u30a2\u30af\u30bb\u30b9\u304c\u5411\u4e0a\u3059\u308b\u306b\u3064\u308c\u3001WS\u306e\u5b50\u3069\u3082\u305f\u3061\u306e\u4e88\u5f8c\u306f\u3055\u3089\u306b\u6539\u5584\u3057\u3066\u304d\u3066\u3044\u307e\u3059\u3002\u65e9\u671f\u3067\u6b63\u78ba\u306a\u8a3a\u65ad\u3001\u7279\u306b\u975e\u4fb5\u8972\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u3092\u5229\u7528\u3059\u308b\u3053\u3068\u3067\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u89aa\u304c\u5341\u5206\u306b\u6e96\u5099\u3092\u6574\u3048\u3001\u9069\u5207\u306a\u30bf\u30a4\u30df\u30f3\u30b0\u3067\u533b\u7642\u30b1\u30a2\u3092\u53d7\u3051\u308b\u3053\u3068\u304c\u53ef\u80fd\u3068\u306a\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=\"427\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/24156031_s.jpg\" alt=\"\u5b50\u3069\u3082\u3092\u611b\u3055\u306a\u3044\u3068\" class=\"wp-image-87708\"\/><\/figure><\/div>\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<ul class=\"wp-block-list\">\n<li>\u65e5\u672c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/williams_beuren\/\">\u30a6\u30a3\u30ea\u30a2\u30e0\u30ba\u75c7\u5019\u7fa4<\/a>\u306e\u4f1a <a href=\"https:\/\/sites.google.com\/site\/elfinkansai\/\">\u300e\u30a8\u30eb\u30d5\u30a3\u30f3\u95a2\u897f\u300f<\/a><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/williams_beuren\/\">\u30a6\u30a3\u30ea\u30a2\u30e0\u30ba\u75c7\u5019\u7fa4<\/a>\u306e\u5b50\u3069\u3082\u305f\u3061\u3068\u89aa\u306e\u70ba\u306e\u30b3\u30df\u30e5\u30cb\u30c6\u30a3\u30fc<\/li>\n\n\n\n<li>\u907a\u4f1d\u6027\u75be\u60a3\u30d7\u30e9\u30b9. \u3000<a href=\"https:\/\/genetics.qlife.jp\/diseases\/williams-syndrome\">\u8a18\u4e8b<\/a>\u3000&amp;\u3000<a href=\"https:\/\/genetics.qlife.jp\/diseases\/williams-syndrome\/patients\/2022-10-31\">\u300e\u30a8\u30eb\u30d5\u30a3\u30f3\u95a2\u897f\u300f<\/a>\u306e\u7d39\u4ecb<\/li>\n\n\n\n<li>\u3010\u5199\u771f\u3042\u308a\u30fb\u82f1\u8a9e\u3011\u30e6\u30cb\u30fc\u30af\uff08Unique\uff09\u306b\u3088\u308b7q \u6b20\u5931: \u8fd1\u4f4d\u304a\u3088\u3073\u9593\u8cea\u306b\u95a2\u3059\u308b<a href=\"https:\/\/www.rarechromo.org\/media\/information\/Chromosome%20%207\/7q%20deletions%20proximal%20interstitial%20FTNP.pdf\">\u60c5\u5831\u30b7\u30fc\u30c8<\/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\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=\"%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:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1249\/\">Morris CA. Williams Syndrome. 1999 Apr 9 [Updated 2023 Apr 13]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1249\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1002\/emmm.200900003\">Li, H. H., Roy, M., Kuscuoglu, U., Spencer, C. M., Halm, B., Harrison, K. C., Bayle, J. H., Splendore, A., Ding, F., Meltzer, L. A., Wright, E., Paylor, R., Deisseroth, K., &amp; Francke, U. (2009). Induced chromosome deletions cause hypersociability and other features of Williams\u2013Beuren syndrome in mice. <em>EMBO Molecular Medicine<\/em>, <em>1<\/em>(1), 50\u201365. https:\/\/doi.org\/10.1002\/emmm.200900003<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1007\/s00018-008-8401-y\">Schubert, C. (2009). The genomic basis of the Williams \u2013 Beuren syndrome. <em>Cellular and Molecular Life Sciences<\/em>, <em>66<\/em>(7), 1178\u20131197. https:\/\/doi.org\/10.1007\/s00018-008-8401-y<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1038\/s41597-019-0281-5\">De Cegli, R., Iacobacci, S., Fedele, A., Ballabio, A., &amp; Di Bernardo, D. (2019). A transcriptomic study of Williams-Beuren syndrome associated genes in mouse embryonic stem cells. <em>Scientific Data<\/em>, <em>6<\/em>(1), 262. https:\/\/doi.org\/10.1038\/s41597-019-0281-5<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.amjcard.2022.10.037\">Zinyandu, T., Montero, A. J., Thomas, A. S., Sassis, L., Kefala-Karli, P., Knight, J., &amp; Kochilas, L. K. (2023). Thirty-Year Survival After Cardiac Surgery in Children With Williams-Beuren Syndrome (from the Pediatric Cardiac Care Consortium Study). <em>The American journal of cardiology<\/em>, <em>187<\/em>, 48\u201353. https:\/\/doi.org\/10.1016\/j.amjcard.2022.10.037<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.orpha.net\/en\/disease\/detail\/904?name=Williams-Beuren%20syndrome&amp;mode=name\">Orphanet. (Last updated March 2021). <em>Williams syndrome.<\/em> Reviewed by Dr Pernille GREGERSEN, Dr Mette HANDRUP, Dr Anne LEEGAARD. Retrieved from https:\/\/www.orpha.net\/en\/disease\/detail\/904?name=Williams-Beuren%20syndrome&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\u30a3\u30ea\u30a2\u30e0\u30ba\u75c7\u5019\u7fa4 (W&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/williams_beuren\/\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":101,"featured_media":87783,"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-83441","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\/83441","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=83441"}],"version-history":[{"count":15,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/83441\/revisions"}],"predecessor-version":[{"id":109557,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/83441\/revisions\/109557"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/87783"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=83441"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=83441"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=83441"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}