{"id":83548,"date":"2024-11-14T14:28:43","date_gmt":"2024-11-14T05:28:43","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=83548"},"modified":"2025-08-12T11:40:46","modified_gmt":"2025-08-12T02:40:46","slug":"potocki-shaffer-syndrome","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/potocki-shaffer-syndrome\/","title":{"rendered":"\u30dd\u30c8\u30c4\u30ad\u30fb\u30b7\u30e3\u30c3\u30d5\u30a1\u30fc\u75c7\u5019\u7fa4\uff08Potocki-Shaffer syndrome; PSS\uff09"},"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>\u30dd\u30c8\u30c4\u30ad\u30fb\u30b7\u30e3\u30c3\u30d5\u30a1\u30fc\u75c7\u5019\u7fa4\uff08PSS\uff09\u306f11\u756a\u67d3\u8272\u4f53\u306e\u6b20\u5931\u304c\u539f\u56e0\u306e\u975e\u5e38\u306b\u7a00\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002\u3053\u306e\u75be\u60a3\u306f\u9aa8\u3001\u8133\u3001\u305d\u306e\u4ed6\u306e\u7d44\u7e54\u306e\u767a\u9054\u306b\u5f71\u97ff\u3092\u53ca\u307c\u3057\u3001\u9aa8\u816b\u760d\u3001\u982d\u84cb\u9aa8\u306e\u958b\u53e3\u90e8\u3001\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u3001\u767a\u9054\u9045\u5ef6\u306a\u3069\u591a\u5c90\u306b\u308f\u305f\u308b\u75c7\u72b6\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002\u65e9\u671f\u8a3a\u65ad\u3068\u9069\u5207\u306a\u6cbb\u7642\u304c\u3001\u60a3\u8005\u306e\u751f\u6d3b\u306e\u8cea\u3092\u5927\u304d\u304f\u5411\u4e0a\u3055\u305b\u308b\u9375\u3068\u306a\u308a\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\/potocki-shaffer-syndrome\/#%E7%97%85%E6%B0%97%E3%81%AE%E5%88%A5%E7%A7%B0\" >\u75c5\u6c17\u306e\u5225\u79f0<\/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\/potocki-shaffer-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-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/potocki-shaffer-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-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/potocki-shaffer-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-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/potocki-shaffer-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-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/potocki-shaffer-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%97%85%E6%B0%97%E3%81%AE%E5%88%A5%E7%A7%B0\"><\/span>\u75c5\u6c17\u306e\u5225\u79f0<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>11p11.2 deletion<\/li>\n\n\n\n<li>Proximal 11p deletion syndrome<\/li>\n<\/ul>\n\n\n\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\/11p11.2-hgtIdeo_genome_1ee6f6_f59f30-1024x23.png\" alt=\"11p11.2\" class=\"wp-image-89409\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u30dd\u30c8\u30c4\u30ad\u30fb\u30b7\u30e3\u30c3\u30d5\u30a1\u30fc\u75c7\u5019\u7fa4\uff08PSS\uff1bPotocki-Shaffer syndrome\uff09\u306f\u300111\u756a\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u6b20\u5931\u3059\u308b\u3053\u3068\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u975e\u5e38\u306b\u7a00\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002\u3053\u306e\u75be\u60a3\u306f\u9aa8\u3001\u8133\u3001\u305d\u306e\u4ed6\u306e\u7d44\u7e54\u306e\u767a\u9054\u306b\u5f71\u97ff\u3092\u53ca\u307c\u3057\u3001\u591a\u5c90\u306b\u308f\u305f\u308b\u8eab\u4f53\u7684\u3001\u767a\u9054\u7684\u3001\u77e5\u7684\u306a\u8ab2\u984c\u3092\u4f34\u3044\u307e\u3059\u3002\u4e3b\u306a\u7279\u5fb4\u306b\u306f\u3001\u8907\u6570\u306e\u826f\u6027\u9aa8\u816b\u760d\uff08\u9aa8\u8edf\u9aa8\u816b\uff09\u3001\u982d\u84cb\u9854\u9762\u306e\u7570\u5e38\u3001\u305d\u3057\u3066\u982d\u84cb\u9aa8\u306b\u7570\u5e38\u306b\u5927\u304d\u306a\u958b\u53e3\u90e8\uff08\u62e1\u5927\u3057\u305f\u982d\u9802\u5b54\uff09\u304c\u6319\u3052\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u9aa8\u8edf\u9aa8\u816b\u306f\u4e3b\u306b\u9577\u9aa8\u3084\u808b\u9aa8\u306a\u3069\u306e\u9aa8\u306b\u767a\u751f\u3057\u3001\u901a\u5e38\u306f\u826f\u6027\uff08benign\uff09\u3067\u3059\u304c\u3001\u5834\u5408\u306b\u3088\u3063\u3066\u306f\u75db\u307f\u3084\u904b\u52d5\u5236\u9650\u3001\u795e\u7d4c\u5727\u8feb\u3092\u5f15\u304d\u8d77\u3053\u3059\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u307e\u305f\u3001\u7a00\u306b\u60aa\u6027\u5316\u3059\u308b\u30b1\u30fc\u30b9\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u4e00\u65b9\u3001\u62e1\u5927\u3057\u305f\u982d\u9802\u5b54\u306f\u3001\u65b0\u751f\u5150\u306b\u898b\u3089\u308c\u308b\u67d4\u3089\u304b\u3044\u90e8\u5206\u304c\u9589\u3058\u305a\u3001\u6210\u9577\u5f8c\u3082\u982d\u84cb\u9aa8\u306b\u6052\u4e45\u7684\u306a\u958b\u53e3\u90e8\u3068\u3057\u3066\u6b8b\u308b\u7279\u5fb4\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3055\u3089\u306b\u3001\u3053\u306e\u75c7\u5019\u7fa4\u3067\u306f\u767a\u9054\u306e\u9045\u308c\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u304c\u3088\u304f\u898b\u3089\u308c\u3001\u8a00\u8a9e\u3084\u904b\u52d5\u30b9\u30ad\u30eb\u3001\u793e\u4f1a\u7684\u30b9\u30ad\u30eb\u306e\u7fd2\u5f97\u304c\u9045\u308c\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002\u8996\u529b\u306e\u554f\u984c\uff08\u8fd1\u8996\u3084\u659c\u8996\uff09\u3084\u611f\u97f3\u6027\u96e3\u8074\u3082\u6bd4\u8f03\u7684\u983b\u7e41\u306b\u898b\u3089\u308c\u308b\u307b\u304b\u3001\u6ce8\u610f\u529b\u3084\u793e\u4f1a\u7684\u306a\u76f8\u4e92\u4f5c\u7528\u306e\u56f0\u96e3\u306a\u3069\u306e\u884c\u52d5\u4e0a\u306e\u554f\u984c\u304c\u89b3\u5bdf\u3055\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u306b\u306f\u3001\u77ed\u304f\u5e45\u5e83\u3044\u982d\u84cb\u9aa8\uff08\u77ed\u982d\u75c7\uff09\u3001\u76ee\u7acb\u3064\u984d\u3001\u5e83\u3044\u9f3b\u6881\u3068\u5e73\u5766\u306a\u9f3b\u5148\u3001\u672a\u767a\u9054\u306e\u9f3b\u5b54\u3001\u77ed\u3044\u4eba\u4e2d\u3001\u4e0b\u5411\u304d\u306e\u53e3\u89d2\u3001\u5c0f\u3055\u306a\u984e\uff08\u5c0f\u984e\u75c7\uff09\u306a\u3069\u304c\u542b\u307e\u308c\u307e\u3059\u3002\u4ed6\u306b\u3082\u3001\u5185\u773c\u89d2\u306e\u76ae\u819a\u3072\u3060\u3001\u307e\u3076\u305f\u306e\u4e0b\u5782\u3001\u982d\u84cb\u9aa8\u306e\u65e9\u671f\u7652\u5408\u3001\u5927\u6cc9\u9580\u306e\u62e1\u5927\u306a\u3069\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u75c7\u72b6\u306e\u73fe\u308c\u65b9\u3084\u91cd\u75c7\u5ea6\u306f\u500b\u4eba\u306b\u3088\u3063\u3066\u5927\u304d\u304f\u7570\u306a\u308a\u3001\u5fc3\u81d3\u3084\u814e\u81d3\u3001\u5c3f\u8def\u306e\u7570\u5e38\u3001\u9aa8\u683c\u306e\u3055\u3089\u306a\u308b\u7570\u5e38\u3092\u4f34\u3046\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002\u30dd\u30c8\u30c4\u30ad\u30fb\u30b7\u30e3\u30c3\u30d5\u30a1\u30fc\u75c7\u5019\u7fa4\u306e\u7ba1\u7406\u306f\u3001\u500b\u3005\u306e\u75c7\u72b6\u306b\u5408\u308f\u305b\u305f\u5bfe\u5fdc\u3068\u751f\u6d3b\u306e\u8cea\u306e\u5411\u4e0a\u3092\u76ee\u7684\u3068\u3057\u3066\u304a\u308a\u3001\u7279\u306b\u9aa8\u816b\u760d\u3084\u8996\u529b\u306e\u554f\u984c\u306b\u95a2\u9023\u3059\u308b\u5408\u4f75\u75c7\u306e\u5b9a\u671f\u7684\u306a\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0\u304c\u91cd\u8981\u3067\u3059\u3002\u591a\u8077\u7a2e\u9023\u643a\u306b\u3088\u308b\u5c02\u9580\u7684\u306a\u30b1\u30a2\u304c\u3001\u3053\u306e\u75be\u60a3\u3092\u6301\u3064\u4eba\u3005\u306e\u5065\u5eb7\u3068\u751f\u6d3b\u3092\u652f\u3048\u308b\u9375\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=\"480\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/31127225_s.jpg\" alt=\"\u5bdd\u3066\u3044\u308b\u5b50\u4f9b\" class=\"wp-image-88779\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u30dd\u30c8\u30c4\u30ad\u30fb\u30b7\u30e3\u30c3\u30d5\u30a1\u30fc\u75c7\u5019\u7fa4\u306f\u3001\u6975\u3081\u3066\u7a00\u306a<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosomal-abnormality\/\">\u67d3\u8272\u4f53\u7570\u5e38<\/a>\u306e\u4e00\u3064\u3067\u3059\u3002\u3053\u306e\u75be\u60a3\u306e\u63a8\u5b9a\u767a\u751f\u7387\u306f\u3001100\u4e07\u4eba\u306b1\u4eba\u672a\u6e80\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u4e00\u90e8\u306e\u7814\u7a76\u3067\u306f5\u4e07\u4eba\u306b1\u4eba\u672a\u6e80\u3068\u3044\u3046\u3088\u308a\u4fdd\u5b88\u7684\u306a\u898b\u7a4d\u3082\u308a\u3082\u793a\u3055\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\n    <a href=\"\/nipt\/11q23-microdeletion-syndrome\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">11q23\u6b20\u5931\u75c7\u5019\u7fa4 <\/div>\n          <div class=\"blog-card-excerpt\">11q23\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u300111\u756a\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u6b20\u5931\u3059\u308b\u3053\u3068\u3067\u767a\u751f\u3059\u308b\u7a00\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002\u767a\u9054\u9045\u5ef6\u3084\u5185\u81d3\u306e\u7570\u5e38\u3001\u884c\u52d5\u554f\u984c\u304c\u7279\u5fb4\u3067\u3001\u6cbb\u7642\u6cd5\u3084\u5bb6\u65cf\u652f...<\/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>\u30dd\u30c8\u30c4\u30ad\u30fb\u30b7\u30e3\u30c3\u30d5\u30a1\u30fc\u75c7\u5019\u7fa4\uff08PSS\uff1bPotocki-Shaffer syndrome\uff09\u306f\u300111\u756a\u67d3\u8272\u4f53\u306e\u7279\u5b9a\u306e\u9818\u57df\uff0811p11.2\uff09\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\u9023\u7d9a\u907a\u4f1d\u5b50\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u3057\u3066\u77e5\u3089\u308c\u3066\u304a\u308a\u3001\u3053\u306e\u67d3\u8272\u4f53\u9818\u57df\u5185\u306e\u8907\u6570\u306e\u907a\u4f1d\u5b50\u304c\u6b20\u5931\u3059\u308b\u3053\u3068\u3067\u767a\u75c7\u3057\u307e\u3059\u3002PSS\u306e\u4e3b\u306a\u7279\u5fb4\u306b\u306f\u3001\u8907\u6570\u306e\u9aa8\u8edf\u9aa8\u816b\uff08\u826f\u6027\u306e\u9aa8\u816b\u760d\uff09\u3001\u62e1\u5927\u3057\u305f\u982d\u9802\u5b54\uff08\u982d\u84cb\u9aa8\u306b\u6b8b\u308b\u6301\u7d9a\u7684\u306a\u958b\u53e3\u90e8\uff09\u3001\u304a\u3088\u307311p11.2\u9818\u57df\u306e\u6b20\u5931\u304c\u542b\u307e\u308c\u3001\u3053\u308c\u3089\u306f\u8a3a\u65ad\u306e\u6307\u6a19\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u305f\u3060\u3057\u3001\u75c7\u72b6\u306e\u73fe\u308c\u65b9\u3084\u7bc4\u56f2\u306f\u3001\u500b\u4eba\u306b\u3088\u3063\u3066\u5927\u304d\u304f\u7570\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>PSS\u306e\u4e00\u822c\u7684\u306a\u75c7\u72b6\u306b\u306f\u3001\u767a\u9054\u9045\u5ef6\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3001\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08\u4f4e\u7dca\u5f35\u75c7\uff09\u3001\u7279\u5fb4\u7684\u306a\u9854\u8c8c\uff08\u9854\u9762\u7570\u5f62\u6210\uff09\u3001\u305d\u3057\u3066\u4e00\u90e8\u306e\u30b1\u30fc\u30b9\u3067\u306f\u5c0f\u9670\u830e\u304c\u542b\u307e\u308c\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u75c7\u72b6\u306e\u9055\u3044\u306f\u3001\u4e3b\u306b\u67d3\u8272\u4f53\u306e\u6b20\u5931\u306e\u5927\u304d\u3055\u3084\u4f4d\u7f6e\u306e\u9055\u3044\u306b\u3088\u308b\u3082\u306e\u3067\u3059\u304c\u3001\u74b0\u5883\u8981\u56e0\u3084\u8ffd\u52a0\u306e\u907a\u4f1d\u7684\u5f71\u97ff\u3082\u95a2\u4e0e\u3057\u3066\u3044\u308b\u53ef\u80fd\u6027\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=\"360\" src=\"\/nipt\/wp-content\/uploads\/2024\/12\/3893800_s.jpg\" alt=\"\u4e0d\u5b89\u598a\u5a66\u3055\u3093\" class=\"wp-image-86900\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>PSS\u306e\u75c7\u72b6\u304c\u5b8c\u5168\u306b\u73fe\u308c\u308b\u305f\u3081\u306b\u306f\u3001\u67d3\u8272\u4f53\u306e\u6b20\u5931\u304cD11S1393\u3068D11S1319\u3068\u3044\u3046\u30de\u30fc\u30ab\u30fc\u306e\u9593\u3067\u5c11\u306a\u304f\u3068\u30822.1\u30e1\u30ac\u30d9\u30fc\u30b9\uff08Mb\uff09\u306b\u308f\u305f\u308b\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u3002\u6b20\u5931\u306e\u5927\u304d\u3055\u3068\u7bc4\u56f2\u304c\u3001PSS\u306e\u75c7\u72b6\u306e\u91cd\u75c7\u5ea6\u3084\u73fe\u308c\u65b9\u306b\u5927\u304d\u306a\u5f71\u97ff\u3092\u4e0e\u3048\u307e\u3059\u300211p11.2\u9818\u57df\u306b\u306f\u3001\u30dd\u30c8\u30c4\u30ad\u30fb\u30b7\u30e3\u30c3\u30d5\u30a1\u30fc\u75c7\u5019\u7fa4\uff08PSS\uff09\u306b\u95a2\u4e0e\u3057\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u9ad8\u3044\u3068\u8003\u3048\u3089\u308c\u308b15\u500b\u306e\u65e2\u77e5\u306e\u907a\u4f1d\u5b50\u304c\u5b58\u5728\u3057\u307e\u3059\u3002\u4ee5\u4e0b\u306b\u305d\u308c\u3089\u3092\u793a\u3057\u307e\u3059\u3002<br><sub>\u203b\u3053\u306e\u30ea\u30b9\u30c8\u306f\u7db2\u7f85\u7684\u306a\u3082\u306e\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/sub><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>PHACS\uff081-\u30a2\u30df\u30ce\u30b7\u30af\u30ed\u30d7\u30ed\u30d1\u30f3-1-\u30ab\u30eb\u30dc\u30f3\u9178\u30b7\u30f3\u30bf\u30fc\u30bc\uff09<br>ACC\u3068\u547c\u3070\u308c\u308b\u5206\u5b50\u3092\u751f\u6210\u3059\u308b\u5f79\u5272\u3092\u679c\u305f\u3057\u307e\u3059\u3002ACC\u306f\u30a8\u30c1\u30ec\u30f3\u3068\u3044\u3046\u5316\u5408\u7269\u306b\u95a2\u9023\u3059\u308b\u751f\u7269\u5b66\u7684\u30d7\u30ed\u30bb\u30b9\u3067\u91cd\u8981\u306a\u5f79\u5272\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<div style=\"height:13px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<ul class=\"wp-block-list\">\n<li>EXT2\uff08\u30a8\u30af\u30b9\u30c8\u30b9\u30c1\u30f32\uff09<br>\u30d8\u30d1\u30e9\u30f3\u786b\u9178\u3068\u547c\u3070\u308c\u308b\u7d30\u80de\u69cb\u9020\u306e\u4e00\u90e8\u3092\u69cb\u7bc9\u3059\u308b\u305f\u3081\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u4f5c\u308b\u306e\u306b\u95a2\u4e0e\u3057\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306e\u7570\u5e38\u306f\u3001\u9aa8\u306e\u7570\u5e38\u306a\u6210\u9577\u3092\u7279\u5fb4\u3068\u3059\u308b\u907a\u4f1d\u6027\u9aa8\u8edf\u9aa8\u816b\u75c7\uff08\u591a\u767a\u6027\u5916\u9aa8\u816b\uff09\u3092\u5f15\u304d\u8d77\u3053\u3059\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002\u307e\u305f\u3001EXT2\u306f\u816b\u760d\u306e\u6291\u5236\u306b\u3082\u95a2\u4e0e\u3057\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<div style=\"height:13px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<ul class=\"wp-block-list\">\n<li>ALX4\uff08\u30a2\u30ea\u30b9\u30bf\u30ec\u30b9\u69d8\u30db\u30e1\u30aa\u30dc\u30c3\u30af\u30b94\uff09<br>\u982d\u84cb\u9aa8\u306e\u767a\u9054\u306b\u95a2\u4e0e\u3057\u3066\u3044\u307e\u3059\u3002ALX4\u306e\u5909\u7570\u3084\u6b20\u5931\u306f\u3001\u982d\u84cb\u9aa8\u306b\u7570\u5e38\u306a\u958b\u53e3\u90e8\u304c\u3067\u304d\u308b\u3001\u307e\u305f\u306f\u982d\u84cb\u9aa8\u306e\u9aa8\u304c\u65e9\u671f\u306b\u7652\u5408\u3059\u308b\uff08\u982d\u84cb\u7e2b\u5408\u65e9\u671f\u7652\u5408\u75c7\uff09\u3068\u3044\u3063\u305f\u554f\u984c\u3092\u5f15\u304d\u8d77\u3053\u3059\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<div style=\"height:13px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<ul class=\"wp-block-list\">\n<li>KAI1\uff08\u30ab\u30f3\u30ac\u30a41\uff09<br>\u764c\u306e\u62e1\u6563\u3092\u6291\u5236\u3059\u308b\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u751f\u6210\u3057\u307e\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306e\u55aa\u5931\u306f\u3001\u524d\u7acb\u817a\u764c\u60a3\u8005\u306e\u4e88\u5f8c\u60aa\u5316\u3068\u95a2\u9023\u3057\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<div style=\"height:13px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<ul class=\"wp-block-list\">\n<li>TSPAN\uff08\u30c6\u30c8\u30e9\u30b9\u30d1\u30cb\u30f3\u3001\u30a6\u30ed\u30d7\u30e9\u30ad\u30f31\u306b\u985e\u4f3c\uff09<br>\u30c6\u30c8\u30e9\u30b9\u30d1\u30cb\u30f3\u30bf\u30f3\u30d1\u30af\u8cea\u30d5\u30a1\u30df\u30ea\u30fc\u306b\u5c5e\u3057\u3066\u304a\u308a\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3001\u773c\u75be\u60a3\u3001\u514d\u75ab\u7cfb\u306e\u554f\u984c\u3001\u764c\u306a\u3069\u306e\u72b6\u614b\u306b\u95a2\u9023\u3057\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<div style=\"height:13px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<ul class=\"wp-block-list\">\n<li>TP53I11\uff08\u816b\u760d\u30bf\u30f3\u30d1\u30afp53\u8a98\u5c0e\u6027\u30bf\u30f3\u30d1\u30af\u8cea11\uff09<br>p53\u3068\u3044\u3046\u5225\u306e\u907a\u4f1d\u5b50\u306b\u3088\u3063\u3066\u6d3b\u6027\u5316\u3055\u308c\u3001\u640d\u50b7\u3092\u53d7\u3051\u305f\u7d30\u80de\u304c\u81ea\u5df1\u7834\u58ca\uff08\u30a2\u30dd\u30c8\u30fc\u30b7\u30b9\uff09\u3059\u308b\u30d7\u30ed\u30bb\u30b9\u3092\u901a\u3058\u3066\u764c\u304b\u3089\u4f53\u3092\u5b88\u308b\u5f79\u5272\u3092\u6301\u3064\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<div style=\"height:13px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<ul class=\"wp-block-list\">\n<li>PRDM11\uff08PR\u30c9\u30e1\u30a4\u30f3\u542b\u670911\uff09<br>\u816b\u760d\u5f62\u6210\u3068\u95a2\u9023\u3059\u308b\u907a\u4f1d\u5b50\u7fa4\u306e\u4e00\u90e8\u3067\u3042\u308a\u3001\u764c\u306e\u767a\u751f\u306b\u95a2\u4e0e\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<div style=\"height:13px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<ul class=\"wp-block-list\">\n<li>SYT13\uff08\u30b7\u30ca\u30d7\u30c8\u30bf\u30b0\u30df\u30f3XIII\uff09<br>\u795e\u7d4c\u4f1d\u9054\u7269\u8cea\u306e\u653e\u51fa\u306a\u3069\u3001\u7d30\u80de\u304c\u7269\u8cea\u3092\u5206\u6ccc\u3059\u308b\u30d7\u30ed\u30bb\u30b9\u306b\u95a2\u4e0e\u3059\u308b\u30bf\u30f3\u30d1\u30af\u8cea\u30d5\u30a1\u30df\u30ea\u30fc\u306b\u5c5e\u3057\u3066\u3044\u307e\u3059\u3002\u4e00\u90e8\u306e\u6a5f\u80fd\u3092\u6b20\u3044\u3066\u3044\u307e\u3059\u304c\u3001\u8133\u306e\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u306b\u4e0d\u53ef\u6b20\u306a\u30d7\u30ed\u30bb\u30b9\u306b\u95a2\u4e0e\u3057\u3066\u304a\u308a\u3001\u816b\u760d\u6291\u5236\u306e\u5f79\u5272\u3092\u679c\u305f\u3059\u53ef\u80fd\u6027\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<div style=\"height:13px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<ul class=\"wp-block-list\">\n<li>CHST1\uff08\u70ad\u6c34\u5316\u7269\u786b\u9178\u8ee2\u79fb\u9175\u7d201\uff09<br>\u8133\u3084\u89d2\u819c\u3067\u30b1\u30e9\u30bf\u30f3\u786b\u9178\u3092\u751f\u6210\u3059\u308b\u5f79\u5272\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306e\u7570\u5e38\u306f\u3001\u89d2\u819c\u306e\u900f\u660e\u6027\u3092\u7dad\u6301\u3059\u308b\u30d7\u30ed\u30bb\u30b9\u306b\u5f71\u97ff\u3092\u53ca\u307c\u3057\u3001\u89d2\u819c\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\uff08\u30de\u30af\u30e9\u30fc\u578b\uff09\u3068\u3044\u3046\u75be\u60a3\u3092\u5f15\u304d\u8d77\u3053\u3059\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<div style=\"height:13px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<ul class=\"wp-block-list\">\n<li>SLC35C1\uff08\u6eb6\u8cea\u30ad\u30e3\u30ea\u30a2\u30d5\u30a1\u30df\u30ea\u30fc35\u3001\u30e1\u30f3\u30d0\u30fcC1\uff09<br>\u7d30\u80de\u5185\u3067\u7279\u5b9a\u306e\u5206\u5b50\u3092\u8f38\u9001\u3059\u308b\u5f79\u5272\u3092\u679c\u305f\u3057\u307e\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306f\u3001\u514d\u75ab\u7cfb\u3001\u9854\u306e\u767a\u9054\u3001\u6210\u9577\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u75be\u60a3\uff08\u767d\u8840\u7403\u63a5\u7740\u4e0d\u5168\u75c7II\u578b\u3001LAD2\uff09\u3092\u5f15\u304d\u8d77\u3053\u3059\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<div style=\"height:13px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<ul class=\"wp-block-list\">\n<li>CRY2\uff08\u30af\u30ea\u30d7\u30c8\u30af\u30ed\u30e02\uff09<br>\u9752\u8272\u5149\u306b\u53cd\u5fdc\u3057\u3066\u4f53\u5185\u6642\u8a08\u3092\u8abf\u6574\u3059\u308b\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u751f\u6210\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<div style=\"height:13px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<ul class=\"wp-block-list\">\n<li>MAPK8IP1\uff08MAP\u30ad\u30ca\u30fc\u30bc8\u76f8\u4e92\u4f5c\u7528\u30bf\u30f3\u30d1\u30af\u8cea1\uff09<br>\u306f\u81b5\u81d3\u306e\u03b2\u7d30\u80de\u3092\u4fdd\u8b77\u3057\u3001\u8840\u7cd6\u5024\u306e\u8abf\u7bc0\u306b\u95a2\u4e0e\u3057\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306f2\u578b\u7cd6\u5c3f\u75c5\u3068\u95a2\u9023\u3057\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<div style=\"height:13px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<ul class=\"wp-block-list\">\n<li>PEX16\uff08\u30da\u30eb\u30aa\u30ad\u30b7\u30bd\u30fc\u30e0\u751f\u5408\u6210\u56e0\u5b5016\uff09<br>\u30da\u30eb\u30aa\u30ad\u30b7\u30bd\u30fc\u30e0\u306e\u69cb\u7bc9\u306b\u4e0d\u53ef\u6b20\u3067\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306f\u3001\u975e\u5e38\u306b\u7a00\u3067\u91cd\u7be4\u306a\u75be\u60a3\u3067\u3042\u308b\u30bc\u30eb\u30a6\u30a7\u30ac\u30fc\u75c7\u5019\u7fa4\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<div style=\"height:13px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<ul class=\"wp-block-list\">\n<li>GYLTL1B\uff08\u30b0\u30ea\u30b3\u30b7\u30eb\u30c8\u30e9\u30f3\u30b9\u30d5\u30a7\u30e9\u30fc\u30bc\u69d81B\uff09<br>\u7cd6\u9396\u4fee\u98fe\u30d7\u30ed\u30bb\u30b9\uff08\u7cd6\u9396\u5316\uff09\u306b\u95a2\u4e0e\u3057\u3066\u304a\u308a\u3001\u3053\u306e\u30d7\u30ed\u30bb\u30b9\u306e\u7570\u5e38\u306f\u767a\u9054\u9045\u5ef6\u3001\u809d\u81d3\u306e\u554f\u984c\u3001\u305d\u306e\u4ed6\u306e\u5065\u5eb7\u554f\u984c\u3092\u5f15\u304d\u8d77\u3053\u3059\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<div style=\"height:13px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<ul class=\"wp-block-list\">\n<li><div style=\"height:13px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><span style=\"font-size: revert; color: initial;\"> BHC80\uff08BRAF35\/HDAC2\u8907\u5408\u4f5380kDa\u30b5\u30d6\u30e6\u30cb\u30c3\u30c8\uff09<\/span><\/div><br><div style=\"height:13px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><span style=\"color: initial; font-size: revert;\">\u795e\u7d4c\u7d30\u80de\u306b\u7279\u5b9a\u306e\u907a\u4f1d\u5b50\u304c\u30aa\u30f3\u30fb\u30aa\u30d5\u3055\u308c\u308b\u306e\u3092\u5236\u5fa1\u3059\u308b\u30b7\u30b9\u30c6\u30e0\u306e\u4e00\u90e8\u3067\u3042\u308a\u3001\u8133\u306e\u6a5f\u80fd\u306b\u95a2\u4e0e\u3057\u3066\u3044\u307e\u3059\u3002<\/span><\/div><\/li>\n<\/ul>\n\n\n\n<div style=\"height:49px\" 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=\"512\" height=\"500\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/chr11-MdZEZEbIcZZMeCaKdUAAAHMX.png\" alt=\"chr11\" class=\"wp-image-88797\"\/><\/figure><\/div>\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u67d3\u8272\u4f53\u5206\u6790\u65b9\u6cd5\u3068\u3057\u3066\u306f\u3001\u51fa\u751f\u5f8c\u306b\u884c\u3046\u86cd\u5149 in situ \u30cf\u30a4\u30d6\u30ea\u30c0\u30a4\u30bc\u30fc\u30b7\u30e7\u30f3\uff08FISH\uff09\u3084\u30de\u30a4\u30af\u30ed\u30b5\u30c6\u30e9\u30a4\u30c8\u5206\u6790\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u89e3\u6790\u306a\u3069\u304c\u3042\u308a\u307e\u3059\u3002\u307e\u305f\u3001\u51fa\u751f\u524d\u306b\u306f\u7f8a\u6c34\u7a7f\u523a\u3084FISH\u3092\u7528\u3044\u305f\u691c\u67fb\u304c\u9ad8\u7cbe\u5ea6\u3067\u884c\u3048\u308b\u65b9\u6cd5\u3068\u3057\u3066\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u3053\u308c\u3089\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/abortion\/\">\u6d41\u7523<\/a>\u306e\u30ea\u30b9\u30af\u3084\u6bcd\u4f53\u304a\u3088\u3073\u80ce\u5150\u306e\u5065\u5eb7\u3078\u306e\u5371\u967a\u3092\u4f34\u3046\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002\u8fd1\u5e74\u3001DNA\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\u6280\u8853\u306e\u6025\u901f\u306a\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\u4fe1\u983c\u6027\u304c\u9ad8\u304f\u5b89\u5168\u306a\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u306e\u4ee3\u66ff\u624b\u6bb5\u3068\u3057\u3066\u6ce8\u76ee\u3055\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=\"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%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>\u30dd\u30c8\u30c4\u30ad\u30fb\u30b7\u30e3\u30c3\u30d5\u30a1\u30fc\u75c7\u5019\u7fa4\uff08PSS\uff1bPotocki-Shaffer syndrome\uff09\u306f\u3001\u4f53\u306e\u3055\u307e\u3056\u307e\u306a\u90e8\u5206\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u907a\u4f1d\u6027\u306e\u75c5\u6c17\u3067\u3001\u75c7\u72b6\u306f\u4eba\u306b\u3088\u3063\u3066\u5927\u304d\u304f\u7570\u306a\u308a\u307e\u3059\u3002\u3053\u306e\u75c7\u5019\u7fa4\u306e\u4e3b\u306a\u7279\u5fb4\u306f\u3001\u975e\u304c\u3093\u6027\u306e\u9aa8\u816b\u760d\uff08\u8edf\u9aa8\u6027\u5916\u9aa8\u816b\uff09\u3001\u982d\u84cb\u9aa8\u306b\u6b8b\u308b\u958b\u53e3\u90e8\uff08\u62e1\u5927\u3057\u305f\u982d\u9802\u5b54\uff09\u3001\u304a\u3088\u3073\u982d\u3084\u9854\u306e\u9aa8\u306e\u7570\u5e38\uff08\u982d\u84cb\u9854\u9762\u7570\u5e38\uff09\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u30dd\u30c8\u30c4\u30ad\u30fb\u30b7\u30e3\u30c3\u30d5\u30a1\u30fc\u75c7\u5019\u7fa4\u306e\u75c7\u72b6\u306f\u3001\u5927\u304d\u304f4\u3064\u306e\u30ab\u30c6\u30b4\u30ea\u306b\u5206\u3051\u3089\u308c\u307e\u3059\u3002\u307e\u305a\u3001\u9aa8\u683c\u306b\u95a2\u3059\u308b\u7279\u5fb4\u3068\u3057\u3066\u3001\u9577\u3044\u9aa8\u306b\u3067\u304d\u308b\u8907\u6570\u306e\u5916\u9aa8\u816b\u3001\u982d\u84cb\u9aa8\u306b\u751f\u3058\u308b\u4f59\u5206\u306a\u300c\u67d4\u3089\u304b\u3044\u90e8\u5206\u300d\uff08\u982d\u9802\u5b54\uff09\u3001\u982d\u84cb\u9aa8\u306e\u5c0f\u3055\u306a\u8ffd\u52a0\u306e\u9aa8\uff08\u30a6\u30a9\u30eb\u30df\u30a2\u30f3\u9aa8\uff09\u3001\u9aa8\u306e\u5f62\u6210\u304c\u4e0d\u5341\u5206\u306a\u72b6\u614b\uff08\u9aa8\u5316\u4e0d\u8db3\uff09\u3001\u77ed\u3044\u6307\u3084\u3064\u307e\u5148\uff08\u77ed\u6307\u75c7\uff09\u3001\u6307\u306e\u9593\u304c\u76ae\u819a\u3067\u3064\u306a\u304c\u308b\u72b6\u614b\uff08\u6307\u9593\u7652\u5408\u75c7\uff09\u3001\u305d\u3057\u3066\u982d\u3084\u9854\u306e\u9aa8\u304c\u7570\u5e38\u306b\u767a\u9054\u3059\u308b\u72b6\u614b\uff08\u982d\u84cb\u9854\u9762\u7570\u9aa8\u75c7\uff09\u306a\u3069\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6b21\u306b\u3001\u982d\u84cb\u9854\u9762\u306b\u95a2\u3059\u308b\u7279\u5fb4\u3068\u3057\u3066\u3001\u5e83\u304f\u77ed\u3044\u982d\uff08\u77ed\u982d\u75c7\uff09\u3001\u5854\u306e\u3088\u3046\u306a\u5f62\u3092\u3057\u305f\u982d\uff08\u5854\u72b6\u982d\u84cb\uff09\u3001\u5927\u304d\u306a\u5927\u6cc9\u9580\uff08\u65b0\u751f\u5150\u306e\u982d\u306e\u67d4\u3089\u304b\u3044\u90e8\u5206\u304c\u901a\u5e38\u3088\u308a\u5927\u304d\u3044\uff09\u3001\u76ee\u7acb\u3064\u9f3b\u6881\u3068\u5e83\u3044\u9f3b\u5148\u3001\u4f4e\u304f\u5e73\u3089\u306a\u9f3b\u5148\u3001\u672a\u767a\u9054\u306a\u9f3b\u7ffc\u3001\u5c0f\u3055\u3044\u984e\uff08\u5c0f\u984e\u75c7\uff09\u3001\u9ad8\u304f\u5e83\u3044\u984d\u3001\u5074\u9762\u304c\u8584\u3044\u7709\u6bdb\u3001\u76ee\u306e\u5185\u5074\u306b\u898b\u3089\u308c\u308b\u76ae\u819a\u306e\u3072\u3060\uff08\u5185\u773c\u89d2\u8d05\u76ae\uff09\u3001\u76ee\u304c\u96e2\u308c\u3066\u3044\u308b\uff08\u30c6\u30ec\u30ab\u30f3\u30c8\u30b9\uff09\u3001\u76ee\u306e\u5916\u5074\u304c\u5185\u5074\u3088\u308a\u4e0b\u304c\u3063\u3066\u3044\u308b\u72b6\u614b\uff08\u4e0b\u5411\u304d\u306e\u773c\u77bc\u88c2\uff09\u3001\u307e\u3076\u305f\u304c\u5782\u308c\u4e0b\u304c\u308b\u72b6\u614b\uff08\u773c\u77bc\u4e0b\u5782\uff09\u306a\u3069\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u767a\u9054\u3084\u795e\u7d4c\u306e\u554f\u984c\u3082\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3001\u8a00\u8a9e\u3084\u904b\u52d5\u3001\u793e\u4f1a\u7684\u30b9\u30ad\u30eb\u306e\u767a\u9054\u306e\u9045\u308c\uff08\u767a\u9054\u9045\u5ef6\uff09\u3001\u7b4b\u529b\u304c\u5f31\u3044\u72b6\u614b\uff08\u4f4e\u7b4b\u7dca\u5f35\uff09\u3001\u884c\u52d5\u306e\u7570\u5e38\u3001\u3051\u3044\u308c\u3093\u767a\u4f5c\u3001\u97f3\u3092\u611f\u3058\u53d6\u308b\u90e8\u5206\u306b\u5f71\u97ff\u3059\u308b\u96e3\u8074\uff08\u611f\u97f3\u6027\u96e3\u8074\uff09\u3001\u305d\u3057\u3066\u773c\u7403\u304c\u4e0d\u968f\u610f\u306b\u52d5\u304f\u72b6\u614b\uff08\u773c\u632f\uff09\u306a\u3069\u304c\u542b\u307e\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u5168\u8eab\u306b\u95a2\u9023\u3059\u308b\u7279\u5fb4\u3068\u3057\u3066\u3001\u5c0f\u9670\u830e\u3001\u7532\u72b6\u817a\u6a5f\u80fd\u4f4e\u4e0b\u75c7\u3001\u9ad8\u8840\u5727\u3001\u601d\u6625\u671f\u306e\u9045\u308c\u3001\u8ca7\u8840\u3001\u638c\u306b1\u672c\u3060\u3051\u898b\u3089\u308c\u308b\u6a2a\u7dda\uff08\u6a2a\u638c\u7dda\uff09\u3001\u814e\u81d3\u306e\u816b\u760d\uff08\u30a6\u30a3\u30eb\u30e0\u30b9\u816b\u760d\uff09\u306a\u3069\u304c\u3042\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    <a href=\"\/nipt\/polycystic-kidney-disease-infantile-severe-with-tuberous-sclerosis-pkdts\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u591a\u767a\u6027\u56a2\u80de\u814e\u75be\u60a3\u3001\u91cd\u75c7\u578b\u5c0f\u5150\u671f\u578b\u3001\u7d50\u7bc0\u6027\u786c\u5316\u75c7\u5408\u4f75\uff08PKDTS\uff09 <\/div>\n          <div class=\"blog-card-excerpt\">\u7d50\u7bc0\u6027\u786c\u5316\u75c7\u3092\u4f34\u3046\u591a\u767a\u6027\u56a2\u80de\u814e\uff08PKDTS\uff09\u306f\u3001\u975e\u5e38\u306b\u7a00\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3001\u7d50\u7bc0\u6027\u786c\u5316\u75c7\u3068\u5e38\u67d3\u8272\u4f53\u512a\u6027\u591a\u767a\u6027\u56a2\u80de\u814e\u306e\u7279\u5fb4\u3092\u4f75\u305b\u6301\u3061\u307e\u3059\u3002\u672c\u8a18\u4e8b\u3067...<\/div>\n      <\/div>\n    <\/a>\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:20px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u30dd\u30c8\u30c4\u30ad\u30fb\u30b7\u30e3\u30c3\u30d5\u30a1\u30fc\u75c7\u5019\u7fa4\uff08PSS\uff09\u306b\u306f\u73fe\u5728\u3001\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u75c7\u72b6\u306b\u5fdc\u3058\u305f\u9069\u5207\u306a\u6cbb\u7642\u3084\u30b1\u30a2\u3092\u884c\u3046\u3053\u3068\u3067\u3001\u60a3\u8005\u306e\u751f\u6d3b\u306e\u8cea\u3092\u5411\u4e0a\u3055\u305b\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059\u3002\u3053\u306e\u75be\u60a3\u306e\u7ba1\u7406\u306b\u306f\u3001\u907a\u4f1d\u5b66\u3001\u6574\u5f62\u5916\u79d1\u3001\u795e\u7d4c\u5b66\u3001\u5185\u5206\u6ccc\u5b66\u3001\u767a\u9054\u7642\u6cd5\u306a\u3069\u3001\u8907\u6570\u306e\u5206\u91ce\u306e\u5c02\u9580\u5bb6\u304c\u9023\u643a\u3057\u3066\u884c\u3046\u591a\u8077\u7a2e\u30c1\u30fc\u30e0\u30a2\u30d7\u30ed\u30fc\u30c1\u304c\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u9aa8\u816b\u760d\uff08\u5916\u9aa8\u816b\uff09\u306b\u5bfe\u3057\u3066\u306f\u3001\u795e\u7d4c\u5727\u8feb\u3084\u53ef\u52d5\u57df\u5236\u9650\u3068\u3044\u3063\u305f\u5408\u4f75\u75c7\u3092\u9632\u3050\u305f\u3081\u3001\u5b9a\u671f\u7684\u306a\u691c\u67fb\u304c\u63a8\u5968\u3055\u308c\u3066\u304a\u308a\u3001\u5834\u5408\u306b\u3088\u3063\u3066\u306f\u624b\u8853\u304c\u5fc5\u8981\u3068\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u307e\u305f\u3001\u767a\u9054\u306e\u9045\u308c\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u304c\u3042\u308b\u5834\u5408\u306b\u306f\u3001\u8a00\u8a9e\u7642\u6cd5\u3001\u7406\u5b66\u7642\u6cd5\u3001\u4f5c\u696d\u7642\u6cd5\u306a\u3069\u304c\u52b9\u679c\u7684\u3067\u3059\u3002\u3051\u3044\u308c\u3093\u767a\u4f5c\u304c\u3042\u308b\u60a3\u8005\u306b\u306f\u3001\u6297\u3066\u3093\u304b\u3093\u85ac\u304c\u4f7f\u7528\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8996\u899a\u3084\u8074\u899a\u306e\u554f\u984c\uff08\u659c\u8996\u3084\u611f\u97f3\u6027\u96e3\u8074\u306a\u3069\uff09\u306b\u3064\u3044\u3066\u306f\u3001\u5b9a\u671f\u7684\u306a\u773c\u79d1\u304a\u3088\u3073\u8074\u899a\u691c\u67fb\u3092\u901a\u3058\u3066\u9069\u5207\u306b\u7ba1\u7406\u3057\u307e\u3059\u3002\u3055\u3089\u306b\u3001\u601d\u6625\u671f\u306e\u9045\u308c\u3084\u7532\u72b6\u817a\u6a5f\u80fd\u4f4e\u4e0b\u75c7\u306a\u3069\u306e\u5185\u5206\u6ccc\u7cfb\u306e\u554f\u984c\u306b\u306f\u3001\u30db\u30eb\u30e2\u30f3\u7642\u6cd5\u304c\u6709\u52b9\u3067\u3059\u3002\u9ad8\u8840\u5727\u3084\u814e\u81d3\u306e\u7570\u5e38\u306b\u3064\u3044\u3066\u3082\u3001\u5b9a\u671f\u7684\u306a\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3092\u884c\u3046\u3053\u3068\u3067\u65e9\u671f\u767a\u898b\u3068\u6cbb\u7642\u304c\u53ef\u80fd\u3067\u3059\u3002\u984e\u306e\u305a\u308c\u3084\u305d\u306e\u4ed6\u306e\u982d\u84cb\u9854\u9762\u306e\u7570\u5e38\u304c\u6a5f\u80fd\u3084\u5916\u898b\u306b\u5f71\u97ff\u3092\u53ca\u307c\u3059\u5834\u5408\u306b\u306f\u3001\u624b\u8853\u306b\u3088\u308b\u77ef\u6b63\u304c\u5fc5\u8981\u306b\u306a\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\/31048631_s-1.jpg\" alt=\"\u3053\u3069\u3082\u306e\u8a3a\u65ad\" class=\"wp-image-88820\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>PSS\u306b\u95a2\u3059\u308b\u7814\u7a76\u3067\u306f\u3001\u5b50\u3069\u3082\u3078\u306e\u65e9\u671f\u4ecb\u5165\u306e\u91cd\u8981\u6027\u304c\u6307\u6458\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u8a3a\u65ad\u6642\u306b\u306f\u3001\u65e9\u671f\u4ecb\u5165\u30d7\u30ed\u30b0\u30e9\u30e0\u3084\u767a\u9054\u30fb\u884c\u52d5\u306e\u5c02\u9580\u5bb6\u3078\u306e\u7d39\u4ecb\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002\u307e\u305f\u3001\u8a3a\u65ad\u6642\u307e\u305f\u306f3\u6b73\u307e\u3067\u306b\u9aa8\u5168\u4f53\u306e\u8a73\u7d30\u306a\u691c\u67fb\u3092\u884c\u3046\u3053\u3068\u3001\u5b9a\u671f\u7684\u306a\u5065\u5eb7\u8a3a\u65ad\u3067\u659c\u8996\u3084\u773c\u632f\u306e\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3092\u5b9f\u65bd\u3057\u3001\u751f\u5f8c6\u304b\u6708\u307e\u3067\u306b\u5c0f\u5150\u773c\u79d1\u533b\u306b\u3088\u308b\u8a3a\u5bdf\u3092\u53d7\u3051\u308b\u3053\u3068\u304c\u52e7\u3081\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3055\u3089\u306b\u3001\u4e73\u5150\u306e\u6bb5\u968e\u3067\u611f\u97f3\u6027\u96e3\u8074\u3092\u8a55\u4fa1\u3059\u308b\u305f\u3081\u3001\u751f\u5f8c3\u304b\u6708\u4ee5\u5185\u306b\u8074\u899a\u691c\u67fb\u3092\u53d7\u3051\u308b\u3053\u3068\u304c\u91cd\u8981\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u30021\u6b73\u6642\u306b\u306f\u884c\u52d5\u30aa\u30fc\u30b8\u30aa\u30b0\u30e9\u30e0\uff08\u8074\u529b\u691c\u67fb\uff09\u3092\u53d7\u3051\u3001\u305d\u306e\u5f8c\u3082\u6bce\u5e74\u306e\u691c\u67fb\u304c\u63a8\u5968\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u307e\u305f\u3001PSS\u306e\u5b50\u3069\u3082\u306e\u4e21\u89aa\u306f\u3001\u67d3\u8272\u4f53\u306e\u518d\u69cb\u6210\u304c\u5c06\u6765\u306e\u5b50\u3069\u3082\u306bPSS\u3092\u5f15\u304d\u8d77\u3053\u3059\u30ea\u30b9\u30af\u3092\u9ad8\u3081\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u304b\u3069\u3046\u304b\u3092\u78ba\u8a8d\u3059\u308b\u305f\u3081\u306b\u3001\u86cd\u5149 in situ \u30cf\u30a4\u30d6\u30ea\u30c0\u30a4\u30bc\u30fc\u30b7\u30e7\u30f3\uff08FISH\uff09\u691c\u67fb\u3092\u53d7\u3051\u308b\u3079\u304d\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u308c\u3089\u306e\u5bfe\u7b56\u3092\u901a\u3058\u3066\u3001PSS\u3092\u6301\u3064\u5b50\u3069\u3082\u305f\u3061\u304c\u5408\u4f75\u75c7\u3092\u6700\u5c0f\u9650\u306b\u6291\u3048\u3001\u3088\u308a\u826f\u3044\u751f\u6d3b\u3092\u9001\u308b\u3053\u3068\u304c\u671f\u5f85\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u9069\u5207\u306a\u8a3a\u65ad\u3068\u7ba1\u7406\u306f\u3001\u60a3\u8005\u672c\u4eba\u3060\u3051\u3067\u306a\u304f\u5bb6\u65cf\u5168\u4f53\u306b\u3068\u3063\u3066\u91cd\u8981\u306a\u652f\u3048\u3068\u306a\u308b\u3067\u3057\u3087\u3046\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<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>\u30dd\u30c8\u30c4\u30ad\u30fb\u30b7\u30e3\u30c3\u30d5\u30a1\u30fc\u75c7\u5019\u7fa4\uff08PSS\uff1bPotocki-Shaffer syndrome\uff09\u306f\u3001\u500b\u4eba\u306b\u3088\u3063\u3066\u75c7\u72b6\u304c\u5927\u304d\u304f\u7570\u306a\u308b\u975e\u5e38\u306b\u591a\u69d8\u306a\u7279\u5fb4\u3092\u6301\u3064\u75c5\u6c17\u3067\u3059\u3002\u4e2d\u306b\u306f\u6b63\u5e38\u306a\u767a\u9054\u3084\u77e5\u80fd\u3092\u793a\u3059\u4eba\u3082\u3044\u308c\u3070\u3001\u91cd\u5ea6\u306e\u767a\u9054\u9045\u5ef6\u3084\u305d\u306e\u4ed6\u306e\u7570\u5e38\u304c\u898b\u3089\u308c\u308b\u4eba\u3082\u3044\u307e\u3059\u3002\u307e\u305f\u3001\u907a\u4f1d\u5b50\u9818\u57df\u306e\u6b20\u5931\u304c\u5927\u304d\u3044\u5834\u5408\u306b\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/wagr-syndrome-11p13\/\">WAGR\u75c7\u5019\u7fa4<\/a>\u304c\u95a2\u4fc2\u3057\u3066\u3044\u308b\u3068\u5831\u544a\u3055\u308c\u305f\u30b1\u30fc\u30b9\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75c7\u5019\u7fa4\u3092\u52b9\u679c\u7684\u306b\u7ba1\u7406\u3057\u3001\u5408\u4f75\u75c7\u306e\u30ea\u30b9\u30af\u3092\u8efd\u6e1b\u3059\u308b\u305f\u3081\u306b\u306f\u3001\u5e7c\u5c11\u671f\u306e\u65e9\u671f\u8a3a\u65ad\u3068\u6b63\u78ba\u306a\u8a55\u4fa1\u304c\u6975\u3081\u3066\u91cd\u8981\u3067\u3059\u3002\u65e9\u671f\u8a3a\u65ad\u306b\u3088\u308a\u3001\u5fc5\u8981\u306a\u30b1\u30a2\u3084\u6cbb\u7642\u3092\u65e9\u3044\u6bb5\u968e\u3067\u53d7\u3051\u308b\u3053\u3068\u304c\u53ef\u80fd\u306b\u306a\u308a\u3001\u5c06\u6765\u306e\u75c7\u72b6\u3078\u306e\u5bfe\u51e6\u304c\u3057\u3084\u3059\u304f\u306a\u308a\u307e\u3059\u3002\u307e\u305f\u3001\u5b9a\u671f\u7684\u306a\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0\u3092\u901a\u3058\u3066\u75c5\u72b6\u3092\u9069\u5207\u306b\u628a\u63e1\u3057\u7ba1\u7406\u3059\u308b\u3053\u3068\u3067\u3001\u751f\u6d3b\u306e\u8cea\u3092\u5411\u4e0a\u3055\u305b\u308b\u3053\u3068\u304c\u671f\u5f85\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u9069\u5207\u306a\u30b5\u30dd\u30fc\u30c8\u3068\u30b1\u30a2\u3092\u53d7\u3051\u308b\u3053\u3068\u3067\u3001\u30dd\u30c8\u30c4\u30ad\u30fb\u30b7\u30e3\u30c3\u30d5\u30a1\u30fc\u75c7\u5019\u7fa4\u3092\u6301\u3064\u4eba\u3005\u306f\u3001\u3088\u308a\u5145\u5b9f\u3057\u305f\u751f\u6d3b\u3092\u9001\u308b\u3053\u3068\u304c\u3067\u304d\u308b\u53ef\u80fd\u6027\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=\"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<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:\/\/doi.org\/10.1159\/000337925\">Palka, C., Alfonsi, M., Mohn, A., Guanciali Franchi, P., Chiarelli, F., &amp; Calabrese, G. (2012). Delayed Diagnosis of Potocki-Shaffer Syndrome in a Woman with Multiple Exostoses and Mental Retardation.&nbsp;<em>Molecular syndromology<\/em>,&nbsp;<em>2<\/em>(6), 259\u2013261. https:\/\/doi.org\/10.1159\/000337925<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.ejmg.2019.02.005\">Wissman, S. D., McCool, C., Potocki, L., &amp; Elenberg, E. (2020). Hypertension in Potocki-Shaffer syndrome: A case report. <em>European Journal of Medical Genetics<\/em>, <em>63<\/em>(1), 103633. https:\/\/doi.org\/10.1016\/j.ejmg.2019.02.005<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1002\/ajmg.a.35671\">Montgomery, N. D., Turcott, C. M., Tepperberg, J. H., McDonald, M. T., &amp; Aylsworth, A. S. (2013). A 137-kb deletion within the Potocki-Shaffer syndrome interval on chromosome 11p11.2 associated with developmental delay and hypotonia.&nbsp;<em>American journal of medical genetics. Part A<\/em>,&nbsp;<em>161A<\/em>(1), 198\u2013202. https:\/\/doi.org\/10.1002\/ajmg.a.35671<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1038\/sj.ejhg.5201366\">Wakui, K., Gregato, G., Ballif, B. C., Glotzbach, C. D., Bailey, K. A., Kuo, P.-L., Sue, W.-C., Sheffield, L. J., Irons, M., Gomez, E. G., Hecht, J. T., Potocki, L., &amp; Shaffer, L. G. (2005). Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki\u2013Shaffer syndrome.&nbsp;<em>European Journal of Human Genetics<\/em>,&nbsp;<em>13<\/em>(5), 528\u2013540. https:\/\/doi.org\/10.1038\/sj.ejhg.5201366<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.omim.org\/entry\/601224\">Online Mendelian Inheritance in Man. <em>POTOCKI-SHAFFER SYNDROME<\/em> (Last updated December 2019 by Ada Hamosh). Retreived from https:\/\/www.omim.org\/entry\/601224<\/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\u30dd\u30c8\u30c4\u30ad\u30fb\u30b7\u30e3\u30c3\u30d5\u30a1\u30fc\u75c7&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/potocki-shaffer-syndrome\/\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":101,"featured_media":87762,"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-83548","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\/83548","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=83548"}],"version-history":[{"count":30,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/83548\/revisions"}],"predecessor-version":[{"id":109871,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/83548\/revisions\/109871"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/87762"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=83548"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=83548"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=83548"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}