{"id":122238,"date":"2026-01-09T16:29:03","date_gmt":"2026-01-09T07:29:03","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=122238"},"modified":"2026-03-31T17:07:33","modified_gmt":"2026-03-31T08:07:33","slug":"visceral-myopathy-type1-actg2-guide","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/visceral-myopathy-type1-actg2-guide\/","title":{"rendered":"\u5185\u81d3\u7b4b\u75c71\u578b\uff08Visceral myopathy 1\uff09"},"content":{"rendered":"\n<p>\u304a\u5b50\u69d8\u3084\u3054\u5bb6\u65cf\u304c\u300c\u5185\u81d3\u7b4b\u75c71\u578b\uff08Visceral myopathy 1\uff09\u300d\u3001\u3042\u308b\u3044\u306f\u300cACTG2\u95a2\u9023\u5185\u81d3\u7b4b\u75c7\u300d\u3068\u3044\u3046\u8a3a\u65ad\u3092\u53d7\u3051\u305f\u3068\u304d\u3001\u805e\u304d\u6163\u308c\u306a\u3044\u75c5\u540d\u306b\u3001\u5927\u304d\u306a\u4e0d\u5b89\u3068\u6238\u60d1\u3044\u3092\u611f\u3058\u3089\u308c\u305f\u3053\u3068\u3067\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<p>\u300c\u5185\u81d3\u306e\u7b4b\u8089\u306e\u75c5\u6c17\u3063\u3066\u3069\u3046\u3044\u3046\u3053\u3068\uff1f\u300d<\/p>\n\n\n\n<p>\u300c\u8178\u304c\u52d5\u304b\u306a\u3044\u3068\u8a00\u308f\u308c\u305f\u3051\u308c\u3069\u3001\u6cbb\u308b\u306e\uff1f\u300d<\/p>\n\n\n\n<p>\u300c\u6162\u6027\u507d\u6027\u8178\u9589\u585e\u75c7\uff08CIPO\uff09\u3068\u540c\u3058\u306a\u306e\uff1f\u300d<\/p>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306f\u975e\u5e38\u306b\u5e0c\u5c11\u306a\u96e3\u75c5\u3067\u3042\u308a\u3001\u6d88\u5316\u5668\u5185\u79d1\u3084\u5c0f\u5150\u5916\u79d1\u306e\u5c02\u9580\u533b\u3067\u3082\u3001\u8a73\u3057\u304f\u8a3a\u305f\u3053\u3068\u304c\u3042\u308b\u533b\u5e2b\u306f\u9650\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u305d\u306e\u305f\u3081\u3001\u30a4\u30f3\u30bf\u30fc\u30cd\u30c3\u30c8\u3067\u691c\u7d22\u3057\u3066\u3082\u65e5\u672c\u8a9e\u306e\u8a73\u3057\u3044\u60c5\u5831\u306f\u5c11\u306a\u304f\u3001\u9014\u65b9\u306b\u66ae\u308c\u3066\u3044\u308b\u65b9\u3082\u591a\u3044\u306e\u3067\u306f\u306a\u3044\u3067\u3057\u3087\u3046\u304b\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u8a18\u4e8b\u3067\u306f\u3001\u533b\u5b66\u7684\u306a\u77e5\u8b58\u304c\u306a\u3044\u65b9\u3067\u3082\u7406\u89e3\u3067\u304d\u308b\u3088\u3046\u3001\u3053\u306e\u75c5\u6c17\u306e\u6b63\u4f53\u3001\u4f53\u306e\u4e2d\u3067\u4f55\u304c\u8d77\u304d\u3066\u3044\u308b\u306e\u304b\u3001\u305d\u3057\u3066\u3053\u308c\u304b\u3089\u306e\u6cbb\u7642\u3068\u751f\u6d3b\u3067\u5927\u5207\u306b\u3057\u3066\u307b\u3057\u3044\u3053\u3068\u3092\u30014000\u5b57\u4ee5\u4e0a\u306e\u30dc\u30ea\u30e5\u30fc\u30e0\u3067\u4e01\u5be7\u306b\u89e3\u8aac\u3057\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n<!--nipt_mono-->\r\n<div class=\"nipt-mono\">\r\n    <div class=\"nipt-mono-btn\">\r\n        <a href=\"\/nipt\/nipt-mono\/\">\r\n            <img decoding=\"async\" loading=\"lazy\" src=\"\/nipt\/wp-content\/uploads\/2026\/03\/NIPT-MONO.webp\" alt=\"NIPT-MONO\u3067\u8abf\u3079\u3089\u308c\u307e\u3059\">\r\n         <\/a>\r\n    <\/div>\r\n<\/div>\r\n\r\n<style>\r\n.nipt-mono {\r\n    text-align: center; \/* \u89aa\u8981\u7d20\u3067\u6a2a\u4e2d\u592e *\/\r\n}\r\n.nipt-mono a img {\r\n    display: inline-block; \/* \u753b\u50cf\u3092\u30a4\u30f3\u30e9\u30a4\u30f3\u30d6\u30ed\u30c3\u30af\u5316\u3057\u3066 text-align \u306b\u53cd\u6620 *\/\r\n    width: 333px;\r\n}\r\n<\/style>\r\n<!--\/nipt_mono-->\r\n\r\n\n\n\n\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\/visceral-myopathy-type1-actg2-guide\/#%E6%A6%82%E8%A6%81%EF%BC%9A%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E7%97%85%E6%B0%97%E3%81%8B\" >\u6982\u8981\uff1a\u3069\u306e\u3088\u3046\u306a\u75c5\u6c17\u304b<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/visceral-myopathy-type1-actg2-guide\/#%E3%80%8C%E5%B9%B3%E6%BB%91%E7%AD%8B%E3%80%8D%E3%81%A8%E3%81%AF%EF%BC%9F\" >\u300c\u5e73\u6ed1\u7b4b\u300d\u3068\u306f\uff1f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/visceral-myopathy-type1-actg2-guide\/#%E3%80%8C%E3%83%99%E3%83%AB%E3%83%88%E3%82%B3%E3%83%B3%E3%83%99%E3%82%A2%E3%80%8D%E3%81%8C%E6%AD%A2%E3%81%BE%E3%81%A3%E3%81%9F%E7%8A%B6%E6%85%8B\" >\u300c\u30d9\u30eb\u30c8\u30b3\u30f3\u30d9\u30a2\u300d\u304c\u6b62\u307e\u3063\u305f\u72b6\u614b<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/visceral-myopathy-type1-actg2-guide\/#%E7%97%85%E5%90%8D%E3%81%AE%E6%95%B4%E7%90%86\" >\u75c5\u540d\u306e\u6574\u7406<\/a><\/li><\/ul><\/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\/visceral-myopathy-type1-actg2-guide\/#%E4%B8%BB%E3%81%AA%E7%97%87%E7%8A%B6\" >\u4e3b\u306a\u75c7\u72b6<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/visceral-myopathy-type1-actg2-guide\/#1_%E6%B6%88%E5%8C%96%E5%99%A8%E7%97%87%E7%8A%B6%EF%BC%88%E6%85%A2%E6%80%A7%E5%81%BD%E6%80%A7%E8%85%B8%E9%96%89%E5%A1%9E%EF%BC%89\" >1. \u6d88\u5316\u5668\u75c7\u72b6\uff08\u6162\u6027\u507d\u6027\u8178\u9589\u585e\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/visceral-myopathy-type1-actg2-guide\/#2_%E6%B3%8C%E5%B0%BF%E5%99%A8%E7%97%87%E7%8A%B6%EF%BC%88%E5%B7%A8%E5%A4%A7%E8%86%80%E8%83%B1%EF%BC%89\" >2. \u6ccc\u5c3f\u5668\u75c7\u72b6\uff08\u5de8\u5927\u8180\u80f1\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/visceral-myopathy-type1-actg2-guide\/#3_%E3%81%9D%E3%81%AE%E4%BB%96%E3%81%AE%E7%97%87%E7%8A%B6\" >3. \u305d\u306e\u4ed6\u306e\u75c7\u72b6<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/visceral-myopathy-type1-actg2-guide\/#%E5%8E%9F%E5%9B%A0%EF%BC%9A%E3%81%AA%E3%81%9C%E8%B5%B7%E3%81%8D%E3%81%9F%E3%81%AE%E3%81%8B\" >\u539f\u56e0\uff1a\u306a\u305c\u8d77\u304d\u305f\u306e\u304b<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/visceral-myopathy-type1-actg2-guide\/#1_ACTG2%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AE%E5%A4%89%E7%95%B0\" >1. ACTG2\u907a\u4f1d\u5b50\u306e\u5909\u7570<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/visceral-myopathy-type1-actg2-guide\/#2_%E9%81%BA%E4%BC%9D%E5%BD%A2%E5%BC%8F%EF%BC%88%E5%B8%B8%E6%9F%93%E8%89%B2%E4%BD%93%E9%A1%95%E6%80%A7%E9%81%BA%E4%BC%9D%EF%BC%89\" >2. \u907a\u4f1d\u5f62\u5f0f\uff08\u5e38\u67d3\u8272\u4f53\u9855\u6027\u907a\u4f1d\uff09<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-12\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/visceral-myopathy-type1-actg2-guide\/#%E8%A8%BA%E6%96%AD%E3%81%A8%E6%A4%9C%E6%9F%BB\" >\u8a3a\u65ad\u3068\u691c\u67fb<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-13\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/visceral-myopathy-type1-actg2-guide\/#1_%E7%94%BB%E5%83%8F%E6%A4%9C%E6%9F%BB\" >1. \u753b\u50cf\u691c\u67fb<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/visceral-myopathy-type1-actg2-guide\/#2_%E9%81%BA%E4%BC%9D%E5%AD%90%E6%A4%9C%E6%9F%BB%EF%BC%88%E6%9C%80%E3%82%82%E7%A2%BA%E5%AE%9F%E3%81%AA%E8%A8%BA%E6%96%AD%E6%B3%95%EF%BC%89\" >2. \u907a\u4f1d\u5b50\u691c\u67fb\uff08\u6700\u3082\u78ba\u5b9f\u306a\u8a3a\u65ad\u6cd5\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-15\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/visceral-myopathy-type1-actg2-guide\/#3_%E7%97%85%E7%90%86%E6%A4%9C%E6%9F%BB%EF%BC%88%E8%85%B8%E7%AE%A1%E5%85%A8%E5%B1%A4%E7%94%9F%E6%A4%9C%EF%BC%89\" >3. \u75c5\u7406\u691c\u67fb\uff08\u8178\u7ba1\u5168\u5c64\u751f\u691c\uff09<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/visceral-myopathy-type1-actg2-guide\/#%E6%B2%BB%E7%99%82%E3%81%A8%E7%AE%A1%E7%90%86%EF%BC%9A%E3%81%93%E3%82%8C%E3%81%8B%E3%82%89%E3%81%AE%E3%83%AD%E3%83%BC%E3%83%89%E3%83%9E%E3%83%83%E3%83%97\" >\u6cbb\u7642\u3068\u7ba1\u7406\uff1a\u3053\u308c\u304b\u3089\u306e\u30ed\u30fc\u30c9\u30de\u30c3\u30d7<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/visceral-myopathy-type1-actg2-guide\/#1_%E6%A0%84%E9%A4%8A%E7%AE%A1%E7%90%86%EF%BC%88%E7%94%9F%E5%91%BD%E7%B7%9A%E3%81%AE%E7%A2%BA%E4%BF%9D%EF%BC%89\" >1. \u6804\u990a\u7ba1\u7406\uff08\u751f\u547d\u7dda\u306e\u78ba\u4fdd\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-18\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/visceral-myopathy-type1-actg2-guide\/#2_%E8%85%B8%E7%AE%A1%E3%81%AE%E6%B8%9B%E5%9C%A7%EF%BC%88%E3%81%8A%E8%85%B9%E3%81%AE%E5%BC%B5%E3%82%8A%E3%82%92%E5%8F%96%E3%82%8B%EF%BC%89\" >2. \u8178\u7ba1\u306e\u6e1b\u5727\uff08\u304a\u8179\u306e\u5f35\u308a\u3092\u53d6\u308b\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-19\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/visceral-myopathy-type1-actg2-guide\/#3_%E6%B3%8C%E5%B0%BF%E5%99%A8%E3%81%AE%E7%AE%A1%E7%90%86\" >3. \u6ccc\u5c3f\u5668\u306e\u7ba1\u7406<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-20\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/visceral-myopathy-type1-actg2-guide\/#4_%E8%96%AC%E7%89%A9%E7%99%82%E6%B3%95\" >4. \u85ac\u7269\u7642\u6cd5<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-21\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/visceral-myopathy-type1-actg2-guide\/#5_%E5%A4%96%E7%A7%91%E6%89%8B%E8%A1%93%E3%81%AB%E3%81%A4%E3%81%84%E3%81%A6%EF%BC%88%E6%85%8E%E9%87%8D%E3%81%AB%EF%BC%81%EF%BC%89\" >5. \u5916\u79d1\u624b\u8853\u306b\u3064\u3044\u3066\uff08\u614e\u91cd\u306b\uff01\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-22\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/visceral-myopathy-type1-actg2-guide\/#6_%E5%B0%8F%E8%85%B8%E7%A7%BB%E6%A4%8D\" >6. \u5c0f\u8178\u79fb\u690d<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-23\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/visceral-myopathy-type1-actg2-guide\/#%E6%97%A5%E3%80%85%E3%81%AE%E7%94%9F%E6%B4%BB%E3%81%A7%E3%81%AE%E5%B7%A5%E5%A4%AB%E3%81%A8%E6%B3%A8%E6%84%8F%E7%82%B9\" >\u65e5\u3005\u306e\u751f\u6d3b\u3067\u306e\u5de5\u592b\u3068\u6ce8\u610f\u70b9<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-24\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/visceral-myopathy-type1-actg2-guide\/#%E3%82%88%E3%81%8F%E3%81%82%E3%82%8B%E8%B3%AA%E5%95%8F%EF%BC%88FAQ%EF%BC%89\" >\u3088\u304f\u3042\u308b\u8cea\u554f\uff08FAQ\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-25\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/visceral-myopathy-type1-actg2-guide\/#%E3%81%BE%E3%81%A8%E3%82%81\" >\u307e\u3068\u3081<\/a><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%A6%82%E8%A6%81%EF%BC%9A%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E7%97%85%E6%B0%97%E3%81%8B\"><\/span><strong>\u6982\u8981\uff1a\u3069\u306e\u3088\u3046\u306a\u75c5\u6c17\u304b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u5185\u81d3\u7b4b\u75c71\u578b\uff08Visceral myopathy 1: VSCM1\uff09<strong>\u306f\u3001\u6d88\u5316\u7ba1\uff08\u98df\u9053\u3001\u80c3\u3001\u5c0f\u8178\u3001\u5927\u8178\uff09\u3084\u8180\u80f1\u306a\u3069\u306e<\/strong>\u300c\u5e73\u6ed1\u7b4b\uff08\u3078\u3044\u304b\u3064\u304d\u3093\uff09\u300d\u3068\u547c\u3070\u308c\u308b\u7b4b\u8089\u304c\u3001\u751f\u307e\u308c\u3064\u304d\u3001\u3042\u308b\u3044\u306f\u5f90\u3005\u306b\u5909\u6027\u3057\u3066\u8584\u304f\u306a\u308a\u3001\u53ce\u7e2e\u3059\u308b\u529b\u304c\u5f31\u304f\u306a\u3063\u3066\u3057\u307e\u3046\u907a\u4f1d\u6027\u306e\u75c5\u6c17\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%80%8C%E5%B9%B3%E6%BB%91%E7%AD%8B%E3%80%8D%E3%81%A8%E3%81%AF%EF%BC%9F\"><\/span><strong>\u300c\u5e73\u6ed1\u7b4b\u300d\u3068\u306f\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u79c1\u305f\u3061\u306e\u4f53\u306b\u306f\u3001\u5927\u304d\u304f\u5206\u3051\u30662\u7a2e\u985e\u306e\u7b4b\u8089\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>\u9aa8\u683c\u7b4b\uff08\u3053\u3063\u304b\u304f\u304d\u3093\uff09:<\/strong> \u624b\u8db3\u3092\u52d5\u304b\u3059\u7b4b\u8089\u3002\u81ea\u5206\u306e\u610f\u601d\u3067\u52d5\u304b\u305b\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5e73\u6ed1\u7b4b\uff08\u3078\u3044\u304b\u3064\u304d\u3093\uff09:<\/strong> \u5185\u81d3\uff08\u80c3\u8178\u3084\u8180\u80f1\u3001\u8840\u7ba1\u306a\u3069\uff09\u306e\u58c1\u3092\u4f5c\u3063\u3066\u3044\u308b\u7b4b\u8089\u3002\u81ea\u5206\u306e\u610f\u601d\u3067\u306f\u52d5\u304b\u305b\u305a\u3001\u81ea\u5f8b\u795e\u7d4c\u306a\u3069\u306e\u6307\u4ee4\u3067\u81ea\u52d5\u7684\u306b\u52d5\u3044\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ol>\n\n\n\n<p>\u5185\u81d3\u7b4b\u75c71\u578b\u306f\u3001\u3053\u306e\u300c\u5e73\u6ed1\u7b4b\u300d\u3060\u3051\u304c\u3046\u307e\u304f\u50cd\u304b\u306a\u304f\u306a\u308b\u75c5\u6c17\u3067\u3059\u3002\u624b\u8db3\u306e\u529b\uff08\u9aa8\u683c\u7b4b\uff09\u306f\u6b63\u5e38\u3067\u3042\u308b\u3053\u3068\u304c\u591a\u3044\u306e\u304c\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%80%8C%E3%83%99%E3%83%AB%E3%83%88%E3%82%B3%E3%83%B3%E3%83%99%E3%82%A2%E3%80%8D%E3%81%8C%E6%AD%A2%E3%81%BE%E3%81%A3%E3%81%9F%E7%8A%B6%E6%85%8B\"><\/span><strong>\u300c\u30d9\u30eb\u30c8\u30b3\u30f3\u30d9\u30a2\u300d\u304c\u6b62\u307e\u3063\u305f\u72b6\u614b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5065\u5eb7\u306a\u8178\u306f\u3001\u5e73\u6ed1\u7b4b\u304c\u300c\u8815\u52d5\uff08\u305c\u3093\u3069\u3046\uff09\u904b\u52d5\u300d\u3068\u3044\u3046\u6ce2\u306e\u3088\u3046\u306a\u52d5\u304d\u3092\u3057\u3066\u3001\u98df\u3079\u305f\u3082\u306e\u3092\u53e3\u304b\u3089\u809b\u9580\u3078\u3068\u9001\u308a\u51fa\u3057\u307e\u3059\u3002\u3053\u308c\u306f\u5de5\u5834\u306e\u30d9\u30eb\u30c8\u30b3\u30f3\u30d9\u30a2\u306e\u3088\u3046\u306a\u3082\u306e\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u5185\u81d3\u7b4b\u75c7\u3067\u306f\u3001\u3053\u306e\u30d9\u30eb\u30c8\u30b3\u30f3\u30d9\u30a2\u306e\u30e2\u30fc\u30bf\u30fc\uff08\u7b4b\u8089\uff09\u304c\u58ca\u308c\u3066\u3044\u308b\u305f\u3081\u3001\u98df\u3079\u7269\u304c\u9014\u4e2d\u3067\u6b62\u307e\u3063\u3066\u3057\u307e\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u7269\u7406\u7684\u306b\u4f55\u304b\u304c\u8a70\u307e\u3063\u3066\u3044\u308b\u308f\u3051\u3067\u306f\u306a\u3044\u306e\u306b\u3001\u8178\u304c\u8a70\u307e\u3063\u305f\u3088\u3046\u306a\u75c7\u72b6\u304c\u51fa\u308b\u305f\u3081\u3001\u300c\u6162\u6027\u507d\u6027\u8178\u9589\u585e\u75c7\uff08CIPO\uff09\u300d\u3068\u3044\u3046\u72b6\u614b\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8180\u80f1\u306e\u7b4b\u8089\u3082\u5f31\u3044\u305f\u3081\u3001\u5c3f\u3092\u62bc\u3057\u51fa\u3059\u3053\u3068\u304c\u3067\u304d\u305a\u3001\u8180\u80f1\u304c\u30d1\u30f3\u30d1\u30f3\u306b\u81a8\u3089\u3093\u3067\u3057\u307e\u3044\u307e\u3059\uff08\u5de8\u5927\u8180\u80f1\uff09\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%97%85%E5%90%8D%E3%81%AE%E6%95%B4%E7%90%86\"><\/span><strong>\u75c5\u540d\u306e\u6574\u7406<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306f\u3001\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u8a3a\u65ad\u540d\u3067\u547c\u3070\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u3089\u306f\u75c7\u72b6\u306e\u7a0b\u5ea6\u3084\u767a\u898b\u3055\u308c\u305f\u6642\u671f\u306b\u3088\u308b\u547c\u3073\u65b9\u306e\u9055\u3044\u3067\u3042\u308a\u3001\u6839\u672c\u539f\u56e0\uff08ACTG2\u907a\u4f1d\u5b50\u306a\u3069\uff09\u306f\u540c\u3058\u3067\u3042\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5bb6\u65cf\u6027\u5185\u81d3\u7b4b\u75c7\uff08Familial Visceral Myopathy\uff09<\/strong><\/li>\n\n\n\n<li><strong>ACTG2\u95a2\u9023\u75be\u60a3<\/strong><\/li>\n\n\n\n<li><strong>\u5de8\u5927\u8180\u80f1\u77ed\u5c0f\u7d50\u8178\u8178\u7ba1\u8815\u52d5\u4e0d\u5168\u75c7\uff08MMIHS\uff09<\/strong>: \u91cd\u75c7\u578b\u306e\u5834\u5408\u3001\u3053\u306e\u8a3a\u65ad\u540d\u304c\u3064\u304f\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6162\u6027\u507d\u6027\u8178\u9589\u585e\u75c7\uff08CIPO\uff09<\/strong>: \u75c7\u72b6\u3092\u8868\u3059\u8a3a\u65ad\u540d\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%B8%BB%E3%81%AA%E7%97%87%E7%8A%B6\"><\/span><strong>\u4e3b\u306a\u75c7\u72b6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u5185\u81d3\u7b4b\u75c71\u578b\u306e\u75c7\u72b6\u306f\u3001\u300c\u6d88\u5316\u7ba1\uff08\u304a\u8179\uff09\u300d<strong>\u3068<\/strong>\u300c\u6ccc\u5c3f\u5668\uff08\u304a\u3057\u3063\u3053\uff09\u300d\u306b\u96c6\u4e2d\u3057\u307e\u3059\u3002\u75c7\u72b6\u306e\u91cd\u3055\u306f\u500b\u4eba\u5dee\u304c\u5927\u304d\u304f\u3001\u751f\u307e\u308c\u305f\u76f4\u5f8c\u304b\u3089\u91cd\u3044\u75c7\u72b6\u304c\u51fa\u308b\u5834\u5408\u3082\u3042\u308c\u3070\u3001\u6210\u4eba\u3057\u3066\u304b\u3089\u8a3a\u65ad\u3055\u308c\u308b\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E6%B6%88%E5%8C%96%E5%99%A8%E7%97%87%E7%8A%B6%EF%BC%88%E6%85%A2%E6%80%A7%E5%81%BD%E6%80%A7%E8%85%B8%E9%96%89%E5%A1%9E%EF%BC%89\"><\/span><strong>1. \u6d88\u5316\u5668\u75c7\u72b6\uff08\u6162\u6027\u507d\u6027\u8178\u9589\u585e\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8178\u304c\u52d5\u304b\u306a\u3044\u3053\u3068\u306b\u3088\u308b\u69d8\u3005\u306a\u30c8\u30e9\u30d6\u30eb\u304c\u8d77\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u8179\u90e8\u81a8\u6e80\uff08\u304a\u8179\u306e\u5f35\u308a\uff09:<br>\u8178\u306e\u4e2d\u306b\u30ac\u30b9\u3084\u98df\u3079\u7269\u304c\u6e9c\u307e\u308a\u3001\u304a\u8179\u304c\u592a\u9f13\u306e\u3088\u3046\u306b\u30d1\u30f3\u30d1\u30f3\u306b\u81a8\u3089\u307f\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5614\u5410\u30fb\u80c6\u6c41\u6027\u5614\u5410:<br>\u80c3\u3084\u8178\u306e\u5185\u5bb9\u7269\u304c\u6d41\u308c\u305a\u3001\u9006\u6d41\u3057\u3066\u5410\u3044\u3066\u3057\u307e\u3044\u307e\u3059\u3002\u7279\u306b\u65b0\u751f\u5150\u671f\u306b\u306f\u3001\u7dd1\u8272\u306e\u6db2\u4f53\uff08\u80c6\u6c41\uff09\u3092\u5410\u304f\u3053\u3068\u304c\u7279\u5fb4\u7684\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u8179\u75db:<br>\u8178\u304c\u7121\u7406\u306b\u52d5\u3053\u3046\u3068\u3057\u305f\u308a\u3001\u30ac\u30b9\u3067\u5f15\u304d\u4f38\u3070\u3055\u308c\u305f\u308a\u3059\u308b\u3053\u3068\u3067\u3001\u5f37\u3044\u75db\u307f\u3092\u611f\u3058\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u4fbf\u79d8\u30fb\u4e0b\u75e2:<br>\u9811\u56fa\u306a\u4fbf\u79d8\u306b\u306a\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u8178\u5185\u7d30\u83cc\u306e\u30d0\u30e9\u30f3\u30b9\u304c\u5d29\u308c\u3066\u4e0b\u75e2\u306b\u306a\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6804\u990a\u5438\u53ce\u969c\u5bb3:<br>\u98df\u3079\u305f\u3082\u306e\u304c\u3046\u307e\u304f\u6d88\u5316\u30fb\u5438\u53ce\u3055\u308c\u306a\u3044\u305f\u3081\u3001\u4f53\u91cd\u304c\u5897\u3048\u306a\u304b\u3063\u305f\u308a\u3001\u6804\u990a\u5931\u8abf\u306b\u306a\u3063\u305f\u308a\u3057\u307e\u3059\uff08Failure to thrive\uff09\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E6%B3%8C%E5%B0%BF%E5%99%A8%E7%97%87%E7%8A%B6%EF%BC%88%E5%B7%A8%E5%A4%A7%E8%86%80%E8%83%B1%EF%BC%89\"><\/span><strong>2. \u6ccc\u5c3f\u5668\u75c7\u72b6\uff08\u5de8\u5927\u8180\u80f1\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8180\u80f1\u306e\u7b4b\u8089\u304c\u53ce\u7e2e\u3057\u306a\u3044\u305f\u3081\u3001\u5c3f\u3092\u51fa\u3057\u5207\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5de8\u5927\u8180\u80f1\uff08Megacystis\uff09:<br>\u5c3f\u304c\u6e9c\u307e\u308a\u3059\u304e\u3066\u8180\u80f1\u304c\u5de8\u5927\u5316\u3057\u307e\u3059\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\uff08\u80ce\u5150\u30a8\u30b3\u30fc\uff09\u3067\u6307\u6458\u3055\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6392\u5c3f\u969c\u5bb3:<br>\u81ea\u529b\u3067\u304a\u3057\u3063\u3053\u304c\u51fa\u305b\u306a\u3044\u3001\u307e\u305f\u306f\u51fa\u3057\u5207\u308c\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li>\u5c3f\u8def\u611f\u67d3\u75c7:<br>\u5c3f\u304c\u8180\u80f1\u306b\u6b8b\u308b\u3068\u7d30\u83cc\u304c\u7e41\u6b96\u3057\u3084\u3059\u304f\u3001\u814e\u76c2\u814e\u708e\u306a\u3069\u3092\u7e70\u308a\u8fd4\u3059\u30ea\u30b9\u30af\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6c34\u814e\u75c7:<br>\u5c3f\u304c\u9006\u6d41\u3057\u305f\u308a\u3001\u8180\u80f1\u304c\u5c3f\u7ba1\u3092\u5727\u8feb\u3057\u305f\u308a\u3057\u3066\u3001\u814e\u81d3\u304c\u816b\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E3%81%9D%E3%81%AE%E4%BB%96%E3%81%AE%E7%97%87%E7%8A%B6\"><\/span><strong>3. \u305d\u306e\u4ed6\u306e\u75c7\u72b6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5e73\u6ed1\u7b4b\u306f\u5168\u8eab\u306b\u3042\u308b\u305f\u3081\u3001\u4ed6\u306e\u81d3\u5668\u306b\u3082\u5f71\u97ff\u304c\u51fa\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u77b3\u5b54\u306e\u7570\u5e38:<\/strong> \u5149\u306b\u5bfe\u3059\u308b\u53cd\u5fdc\u304c\u5f31\u3044\u3053\u3068\u304c\u3042\u308a\u307e\u3059\uff08\u77b3\u5b54\u62ec\u7d04\u7b4b\u306e\u5f71\u97ff\uff09\u3002<\/li>\n\n\n\n<li><strong>\u5b50\u5bae\u30fb\u598a\u5a20\u3078\u306e\u5f71\u97ff:<\/strong> \u5973\u6027\u306e\u5834\u5408\u3001\u5b50\u5bae\u306e\u7b4b\u8089\u3082\u5e73\u6ed1\u7b4b\u3067\u3042\u308b\u305f\u3081\u3001\u598a\u5a20\u4e2d\u3084\u51fa\u7523\u6642\u306b\u554f\u984c\u304c\u751f\u3058\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\uff08\u5b50\u5bae\u53ce\u7e2e\u4e0d\u5168\u306a\u3069\uff09\u3002<\/li>\n\n\n\n<li><strong>\u80c6\u56a2:<\/strong> \u80c6\u77f3\u304c\u3067\u304d\u3084\u3059\u304f\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%8E%9F%E5%9B%A0%EF%BC%9A%E3%81%AA%E3%81%9C%E8%B5%B7%E3%81%8D%E3%81%9F%E3%81%AE%E3%81%8B\"><\/span><strong>\u539f\u56e0\uff1a\u306a\u305c\u8d77\u304d\u305f\u306e\u304b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u3054\u5bb6\u65cf\u304c\u300c\u306a\u305c\uff1f\u300d\u3068\u60a9\u307f\u3001\u6642\u306b\u3054\u81ea\u8eab\u3092\u8cac\u3081\u3066\u3057\u307e\u3046\u306e\u304c\u300c\u539f\u56e0\u300d\u306b\u3064\u3044\u3066\u3067\u3059\u3002\u3057\u304b\u3057\u3001\u58f0\u3092\u5927\u306b\u3057\u3066\u304a\u4f1d\u3048\u3057\u305f\u3044\u306e\u306f\u3001\u300c\u3054\u4e21\u89aa\u306e\u80b2\u3066\u65b9\u3084\u598a\u5a20\u4e2d\u306e\u904e\u3054\u3057\u65b9\u304c\u539f\u56e0\u3067\u306f\u306a\u3044\u300d\u3068\u3044\u3046\u3053\u3068\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_ACTG2%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AE%E5%A4%89%E7%95%B0\"><\/span><strong>1. ACTG2\u907a\u4f1d\u5b50\u306e\u5909\u7570<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5185\u81d3\u7b4b\u75c71\u578b\u306e\u4e3b\u306a\u539f\u56e0\u306f\u3001ACTG2\uff08\u30a2\u30af\u30c1\u30f3\u30fb\u30ac\u30f3\u30de2\uff09\u3068\u3044\u3046\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u907a\u4f1d\u5b50\u306f\u3001\u5e73\u6ed1\u7b4b\u306e\u7d30\u80de\u306e\u4e2d\u3067\u300c\u9aa8\u7d44\u307f\u300d\u3084\u300c\u53ce\u7e2e\u88c5\u7f6e\u300d\u306e\u5f79\u5272\u3092\u3059\u308b\u30bf\u30f3\u30d1\u30af\u8cea\uff08\u03b3-2\u30a2\u30af\u30c1\u30f3\uff09\u3092\u4f5c\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5909\u7570\u304c\u3042\u308b\u3068\u3069\u3046\u306a\u308b\uff1f<br>\u7b4b\u8089\u306e\u7d30\u80de\u306e\u4e2d\u306b\u3042\u308b\u300c\u9aa8\u7d44\u307f\u300d\u304c\u5f31\u304f\u3001\u3046\u307e\u304f\u7d44\u307f\u4e0a\u304c\u308a\u307e\u305b\u3093\u3002\u305d\u306e\u305f\u3081\u3001\u7b4b\u8089\u304c\u53ce\u7e2e\u3057\u3088\u3046\u3068\u3057\u3066\u3082\u529b\u304c\u4f1d\u308f\u3089\u305a\u3001\u307e\u305f\u3001\u7b4b\u8089\u306e\u7d30\u80de\u81ea\u4f53\u304c\u58ca\u308c\u3084\u3059\u304f\u306a\u3063\u3066\u3057\u307e\u3044\u307e\u3059\uff08\u5909\u6027\uff09\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E9%81%BA%E4%BC%9D%E5%BD%A2%E5%BC%8F%EF%BC%88%E5%B8%B8%E6%9F%93%E8%89%B2%E4%BD%93%E9%A1%95%E6%80%A7%E9%81%BA%E4%BC%9D%EF%BC%89\"><\/span><strong>2. \u907a\u4f1d\u5f62\u5f0f\uff08\u5e38\u67d3\u8272\u4f53\u9855\u6027\u907a\u4f1d\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306f\u300c\u5e38\u67d3\u8272\u4f53\u9855\u6027\u907a\u4f1d\uff08\u512a\u6027\u907a\u4f1d\uff09\u300d\u3068\u3044\u3046\u5f62\u5f0f\u3092\u3068\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u7a81\u7136\u5909\u7570\uff08de novo\u5909\u7570\uff09:<br>\u60a3\u8005\u3055\u3093\u306e\u591a\u304f\u306f\u3001\u3054\u4e21\u89aa\u306e\u907a\u4f1d\u5b50\u306b\u306f\u7570\u5e38\u304c\u306a\u304f\u3001\u53d7\u7cbe\u5375\u304c\u3067\u304d\u308b\u904e\u7a0b\u3067\u5076\u7136ACTG2\u907a\u4f1d\u5b50\u306b\u5909\u7570\u304c\u8d77\u304d\u305f\u300c\u7a81\u7136\u5909\u7570\u300d\u3067\u3059\u3002\u3053\u306e\u5834\u5408\u3001\u8ab0\u306e\u305b\u3044\u3067\u3082\u3042\u308a\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li>\u89aa\u304b\u3089\u306e\u907a\u4f1d:<br>\u89aa\u5fa1\u3055\u3093\u306e\u3069\u3061\u3089\u304b\u304c\u540c\u3058\u5909\u7570\u3092\u6301\u3063\u3066\u3044\u308b\u5834\u5408\u300150%\u306e\u78ba\u7387\u3067\u304a\u5b50\u69d8\u306b\u907a\u4f1d\u3057\u307e\u3059\u3002\u305f\u3060\u3057\u3001\u89aa\u5fa1\u3055\u3093\u304c\u5909\u7570\u3092\u6301\u3063\u3066\u3044\u3066\u3082\u75c7\u72b6\u304c\u8efd\u5fae\u3067\u6c17\u3065\u304b\u308c\u3066\u3044\u306a\u3044\u5834\u5408\uff08\u6d78\u900f\u7387\u306e\u554f\u984c\uff09\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%A8%BA%E6%96%AD%E3%81%A8%E6%A4%9C%E6%9F%BB\"><\/span><strong>\u8a3a\u65ad\u3068\u691c\u67fb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u8a3a\u65ad\u306f\u3001\u75c7\u72b6\u3001\u753b\u50cf\u691c\u67fb\u3001\u75c5\u7406\u691c\u67fb\u3001\u305d\u3057\u3066\u907a\u4f1d\u5b50\u691c\u67fb\u3092\u7d44\u307f\u5408\u308f\u305b\u3066\u884c\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E7%94%BB%E5%83%8F%E6%A4%9C%E6%9F%BB\"><\/span><strong>1. \u753b\u50cf\u691c\u67fb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8179\u90e8\u30ec\u30f3\u30c8\u30b2\u30f3:<\/strong> \u8178\u5168\u4f53\u306b\u30ac\u30b9\u304c\u6e9c\u307e\u308a\u3001\u8178\u304c\u62e1\u5f35\u3057\u3066\u3044\u308b\u50cf\uff08\u30cb\u30dc\u30fc\u50cf\u306a\u3069\uff09\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6d88\u5316\u7ba1\u9020\u5f71\u691c\u67fb:<\/strong> \u30d0\u30ea\u30a6\u30e0\u306a\u3069\u306e\u9020\u5f71\u5264\u3092\u4f7f\u3063\u3066\u3001\u8178\u306e\u52d5\u304d\u3084\u5f62\u3092\u898b\u307e\u3059\u3002\n<ul class=\"wp-block-list\">\n<li><strong>\u77ed\u5c0f\u7d50\u8178\uff08Microcolon\uff09:<\/strong> \u5927\u8178\u304c\u4f7f\u308f\u308c\u3066\u3044\u306a\u3044\u305f\u3081\u3001\u975e\u5e38\u306b\u7d30\u304f\u306a\u3063\u3066\u3044\u308b\u6240\u898b\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\uff08MMIHS\u306e\u7279\u5fb4\uff09\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8179\u90e8CT:<\/strong> \u8178\u9589\u585e\u306e\u539f\u56e0\u3068\u306a\u308b\u7269\u7406\u7684\u306a\u300c\u306d\u3058\u308c\u300d\u3084\u300c\u816b\u760d\u300d\u304c\u306a\u3044\u304b\u3092\u78ba\u8a8d\u3057\u307e\u3059\uff08\u3053\u308c\u3089\u304c\u306a\u3044\u3053\u3068\u3092\u78ba\u8a8d\u3057\u3066\u3001\u507d\u6027\u8178\u9589\u585e\u3068\u8a3a\u65ad\u3057\u307e\u3059\uff09\u3002<\/li>\n\n\n\n<li><strong>\u8180\u80f1\u30a8\u30b3\u30fc\/\u9020\u5f71:<\/strong> \u8180\u80f1\u306e\u5927\u304d\u3055\u3084\u3001\u5c3f\u7ba1\u3078\u306e\u9006\u6d41\u304c\u306a\u3044\u304b\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E9%81%BA%E4%BC%9D%E5%AD%90%E6%A4%9C%E6%9F%BB%EF%BC%88%E6%9C%80%E3%82%82%E7%A2%BA%E5%AE%9F%E3%81%AA%E8%A8%BA%E6%96%AD%E6%B3%95%EF%BC%89\"><\/span><strong>2. \u907a\u4f1d\u5b50\u691c\u67fb\uff08\u6700\u3082\u78ba\u5b9f\u306a\u8a3a\u65ad\u6cd5\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u73fe\u5728\u3001\u6700\u3082\u63a8\u5968\u3055\u308c\u308b\u8a3a\u65ad\u65b9\u6cd5\u306fACTG2\u907a\u4f1d\u5b50\u306e\u89e3\u6790\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u8840\u6db2\u691c\u67fb\u3067DNA\u3092\u8abf\u3079\u3001ACTG2\u907a\u4f1d\u5b50\u306b\u5909\u7570\u304c\u898b\u3064\u304b\u308c\u3070\u3001\u8a3a\u65ad\u304c\u78ba\u5b9a\u3057\u307e\u3059\u3002\u3053\u308c\u306b\u3088\u308a\u3001\u4e0d\u8981\u306a\u624b\u8853\u3092\u907f\u3051\u3001\u65e9\u671f\u306b\u9069\u5207\u306a\u7ba1\u7406\u65b9\u91dd\u3092\u7acb\u3066\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E7%97%85%E7%90%86%E6%A4%9C%E6%9F%BB%EF%BC%88%E8%85%B8%E7%AE%A1%E5%85%A8%E5%B1%A4%E7%94%9F%E6%A4%9C%EF%BC%89\"><\/span><strong>3. \u75c5\u7406\u691c\u67fb\uff08\u8178\u7ba1\u5168\u5c64\u751f\u691c\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u4ee5\u524d\u306f\u78ba\u5b9a\u8a3a\u65ad\u306e\u305f\u3081\u306b\u884c\u308f\u308c\u3066\u3044\u307e\u3057\u305f\u3002\u624b\u8853\u3067\u8178\u306e\u4e00\u90e8\u3092\u5207\u308a\u53d6\u308a\u3001\u9855\u5fae\u93e1\u3067\u7b4b\u8089\u306e\u72b6\u614b\uff08\u8584\u304f\u306a\u3063\u3066\u3044\u308b\u304b\u3001\u7e4a\u7dad\u5316\u3057\u3066\u3044\u308b\u304b\uff09\u3092\u8abf\u3079\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u3053\u306e\u75c5\u6c17\u306e\u60a3\u8005\u3055\u3093\u306f\u624b\u8853\u306e\u50b7\u304c\u6cbb\u308a\u306b\u304f\u304b\u3063\u305f\u308a\u3001\u624b\u8853\u81ea\u4f53\u304c\u7652\u7740\uff08\u3086\u3061\u3083\u304f\uff09\u306e\u539f\u56e0\u3068\u306a\u3063\u3066\u75c7\u72b6\u3092\u60aa\u5316\u3055\u305b\u305f\u308a\u3059\u308b\u30ea\u30b9\u30af\u304c\u9ad8\u3044\u305f\u3081\u3001\u907a\u4f1d\u5b50\u691c\u67fb\u3067\u8a3a\u65ad\u304c\u3064\u304f\u5834\u5408\u306f\u7121\u7406\u306b\u884c\u308f\u306a\u3044\u50be\u5411\u306b\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n<!--nipt_mono-->\r\n<div class=\"nipt-mono\">\r\n    <div class=\"nipt-mono-btn\">\r\n        <a href=\"\/nipt\/nipt-mono\/\">\r\n            <img decoding=\"async\" loading=\"lazy\" src=\"\/nipt\/wp-content\/uploads\/2026\/03\/NIPT-MONO.webp\" alt=\"NIPT-MONO\u3067\u8abf\u3079\u3089\u308c\u307e\u3059\">\r\n         <\/a>\r\n    <\/div>\r\n<\/div>\r\n\r\n<style>\r\n.nipt-mono {\r\n    text-align: center; \/* \u89aa\u8981\u7d20\u3067\u6a2a\u4e2d\u592e *\/\r\n}\r\n.nipt-mono a img {\r\n    display: inline-block; \/* \u753b\u50cf\u3092\u30a4\u30f3\u30e9\u30a4\u30f3\u30d6\u30ed\u30c3\u30af\u5316\u3057\u3066 text-align \u306b\u53cd\u6620 *\/\r\n    width: 333px;\r\n}\r\n<\/style>\r\n<!--\/nipt_mono-->\r\n\r\n\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\/2026\/01\/33945516_s.webp\" alt=\"\u533b\u8005\" class=\"wp-image-121516\"\/><\/figure><\/div>\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%B2%BB%E7%99%82%E3%81%A8%E7%AE%A1%E7%90%86%EF%BC%9A%E3%81%93%E3%82%8C%E3%81%8B%E3%82%89%E3%81%AE%E3%83%AD%E3%83%BC%E3%83%89%E3%83%9E%E3%83%83%E3%83%97\"><\/span><strong>\u6cbb\u7642\u3068\u7ba1\u7406\uff1a\u3053\u308c\u304b\u3089\u306e\u30ed\u30fc\u30c9\u30de\u30c3\u30d7<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u6b8b\u5ff5\u306a\u304c\u3089\u3001\u5f31\u304f\u306a\u3063\u305f\u5e73\u6ed1\u7b4b\u3092\u5143\u306b\u623b\u3059\u85ac\u3084\u624b\u8853\uff08\u6839\u672c\u6cbb\u7642\uff09\u306f\u3001\u73fe\u6642\u70b9\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u6cbb\u7642\u306e\u76ee\u7684\u306f\u3001\u300c\u6804\u990a\u72b6\u614b\u3092\u4fdd\u3064\u3053\u3068\u300d\u3068\u300c\u5408\u4f75\u75c7\uff08\u611f\u67d3\u75c7\u306a\u3069\uff09\u3092\u9632\u3050\u3053\u3068\u300d\u3001\u305d\u3057\u3066\u300c\u751f\u6d3b\u306e\u8cea\uff08QOL\uff09\u3092\u9ad8\u3081\u308b\u3053\u3068\u300d\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E6%A0%84%E9%A4%8A%E7%AE%A1%E7%90%86%EF%BC%88%E7%94%9F%E5%91%BD%E7%B7%9A%E3%81%AE%E7%A2%BA%E4%BF%9D%EF%BC%89\"><\/span><strong>1. \u6804\u990a\u7ba1\u7406\uff08\u751f\u547d\u7dda\u306e\u78ba\u4fdd\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8178\u304c\u52d5\u304b\u306a\u3044\u305f\u3081\u3001\u53e3\u304b\u3089\u98df\u3079\u308b\u3060\u3051\u3067\u306f\u6804\u990a\u304c\u8db3\u308a\u306a\u304f\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u4e2d\u5fc3\u9759\u8108\u6804\u990a\uff08TPN \/ IVH\uff09:<br>\u591a\u304f\u306e\u60a3\u8005\u3055\u3093\u306b\u3068\u3063\u3066\u3001\u547d\u3092\u3064\u306a\u3050\u6700\u3082\u91cd\u8981\u306a\u6cbb\u7642\u3067\u3059\u3002\u5fc3\u81d3\u306b\u8fd1\u3044\u592a\u3044\u8840\u7ba1\uff08\u4e2d\u5fc3\u9759\u8108\uff09\u306b\u30ab\u30c6\u30fc\u30c6\u30eb\uff08CV\u30ab\u30c6\u30fc\u30c6\u30eb\uff09\u3092\u7559\u7f6e\u3057\u3001\u9ad8\u30ab\u30ed\u30ea\u30fc\u306e\u8f38\u6db2\u3092\u70b9\u6ef4\u3057\u307e\u3059\u3002\n<ul class=\"wp-block-list\">\n<li><strong>\u5728\u5b85\u4e2d\u5fc3\u9759\u8108\u6804\u990a\uff08HPN\uff09:<\/strong> \u30dd\u30f3\u30d7\u3092\u30ea\u30e5\u30c3\u30af\u306b\u5165\u308c\u3066\u6301\u3061\u904b\u3073\u3001\u81ea\u5b85\u3084\u5b66\u6821\u3067\u70b9\u6ef4\u3092\u884c\u3044\u306a\u304c\u3089\u751f\u6d3b\u3059\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30ab\u30c6\u30fc\u30c6\u30eb\u611f\u67d3\u75c7\u3078\u306e\u6ce8\u610f:<\/strong> \u30ab\u30c6\u30fc\u30c6\u30eb\u304b\u3089\u7d30\u83cc\u304c\u5165\u308b\u3068\u300c\u6557\u8840\u75c7\u300d\u306b\u306a\u308a\u547d\u306b\u95a2\u308f\u308b\u305f\u3081\u3001\u65e5\u3005\u306e\u6d88\u6bd2\u306a\u3069\u306e\u30b1\u30a2\u304c\u975e\u5e38\u306b\u91cd\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>\u7d4c\u8178\u6804\u990a\uff08ED\uff09:<br>\u8178\u304c\u5c11\u3057\u3067\u3082\u52d5\u3044\u3066\u3044\u308b\u5834\u5408\u306f\u3001\u9f3b\u304b\u3089\u306e\u30c1\u30e5\u30fc\u30d6\u3084\u80c3\u308d\u3046\u3092\u4f7f\u3063\u3066\u3001\u6d88\u5316\u3057\u3084\u3059\u3044\u6804\u990a\u5264\u3092\u5c11\u3057\u305a\u3064\u6ce8\u5165\u3057\u307e\u3059\u3002\u8178\u306e\u7c98\u819c\u3092\u5065\u5eb7\u306b\u4fdd\u3064\u305f\u3081\u306b\u91cd\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u7d4c\u53e3\u6442\u53d6:<br>\u75c7\u72b6\u304c\u5b89\u5b9a\u3057\u3066\u3044\u308c\u3070\u3001\u53e3\u304b\u3089\u597d\u304d\u306a\u3082\u306e\u3092\u98df\u3079\u308b\u3053\u3068\u3082\u53ef\u80fd\u3067\u3059\uff08\u6d88\u5316\u306e\u826f\u3044\u3082\u306e\u3092\u9078\u3076\u306a\u3069\u306e\u5de5\u592b\u306f\u5fc5\u8981\u3067\u3059\uff09\u3002\u300c\u98df\u3079\u308b\u697d\u3057\u307f\u300d\u3092\u7dad\u6301\u3059\u308b\u3053\u3068\u306f\u5fc3\u306e\u30b1\u30a2\u306b\u3082\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E8%85%B8%E7%AE%A1%E3%81%AE%E6%B8%9B%E5%9C%A7%EF%BC%88%E3%81%8A%E8%85%B9%E3%81%AE%E5%BC%B5%E3%82%8A%E3%82%92%E5%8F%96%E3%82%8B%EF%BC%89\"><\/span><strong>2. \u8178\u7ba1\u306e\u6e1b\u5727\uff08\u304a\u8179\u306e\u5f35\u308a\u3092\u53d6\u308b\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u304a\u8179\u304c\u30d1\u30f3\u30d1\u30f3\u306b\u5f35\u308b\u3068\u82e6\u3057\u3044\u305f\u3081\u3001\u6e9c\u307e\u3063\u305f\u30ac\u30b9\u3084\u8178\u6db2\u3092\u5916\u306b\u51fa\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u80c3\u7ba1\uff08\u30de\u30fc\u30b2\u30f3\u30c1\u30e5\u30fc\u30d6\uff09:<\/strong> \u9f3b\u304b\u3089\u80c3\u3078\u30c1\u30e5\u30fc\u30d6\u3092\u5165\u308c\u3001\u80c3\u6db2\u3092\u5438\u3044\u51fa\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u80c3\u308d\u3046\u30fb\u8178\u308d\u3046:<\/strong> \u304a\u8179\u306b\u5c0f\u3055\u306a\u7a74\u3092\u958b\u3051\u3066\u30c1\u30e5\u30fc\u30d6\u3092\u901a\u3057\u3001\u305d\u3053\u304b\u3089\u30ac\u30b9\u629c\u304d\uff08\u6e1b\u5727\uff09\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E6%B3%8C%E5%B0%BF%E5%99%A8%E3%81%AE%E7%AE%A1%E7%90%86\"><\/span><strong>3. \u6ccc\u5c3f\u5668\u306e\u7ba1\u7406<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u81ea\u5df1\u5c0e\u5c3f\uff08CIC\uff09:<br>\u5c3f\u9053\u304b\u3089\u30ab\u30c6\u30fc\u30c6\u30eb\u3092\u5165\u308c\u3066\u30011\u65e5\u306b\u6570\u56de\u3001\u6e9c\u307e\u3063\u305f\u5c3f\u3092\u51fa\u3057\u5207\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8180\u80f1\u76ae\u819a\u308d\u3046\uff08Vesicostomy\uff09:<br>\u4e73\u5e7c\u5150\u671f\u306a\u3069\u3001\u5c0e\u5c3f\u304c\u96e3\u3057\u3044\u5834\u5408\u306f\u3001\u304a\u81cd\u306e\u4e0b\u3042\u305f\u308a\u306b\u8180\u80f1\u306e\u51fa\u53e3\u3092\u4f5c\u308b\u624b\u8853\u3092\u884c\u3044\u3001\u5c3f\u304c\u5e38\u306b\u30aa\u30e0\u30c4\u306b\u51fa\u308b\u3088\u3046\u306b\u7ba1\u7406\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E8%96%AC%E7%89%A9%E7%99%82%E6%B3%95\"><\/span><strong>4. \u85ac\u7269\u7642\u6cd5<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6d88\u5316\u7ba1\u904b\u52d5\u6a5f\u80fd\u6539\u5584\u85ac:<\/strong> \u8178\u306e\u52d5\u304d\u3092\u52a9\u3051\u308b\u85ac\u3092\u4f7f\u3044\u307e\u3059\u304c\u3001\u7b4b\u8089\u81ea\u4f53\u304c\u5f31\u3063\u3066\u3044\u308b\u305f\u3081\u3001\u5287\u7684\u306a\u52b9\u679c\u306f\u671f\u5f85\u3057\u306b\u304f\u3044\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6297\u83cc\u85ac:<\/strong> \u8178\u306e\u52d5\u304d\u304c\u60aa\u3044\u3068\u3001\u8178\u5185\u3067\u60aa\u3044\u7d30\u83cc\u304c\u5897\u6b96\u3057\u3059\u304e\u308b\u3053\u3068\uff08SIBO\uff1a\u5c0f\u8178\u5185\u7d30\u83cc\u7570\u5e38\u5897\u6b96\uff09\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u306b\u5bfe\u3057\u3066\u6297\u751f\u7269\u8cea\u3092\u4f7f\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"5_%E5%A4%96%E7%A7%91%E6%89%8B%E8%A1%93%E3%81%AB%E3%81%A4%E3%81%84%E3%81%A6%EF%BC%88%E6%85%8E%E9%87%8D%E3%81%AB%EF%BC%81%EF%BC%89\"><\/span><strong>5. \u5916\u79d1\u624b\u8853\u306b\u3064\u3044\u3066\uff08\u614e\u91cd\u306b\uff01\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3053\u3053\u304c\u975e\u5e38\u306b\u91cd\u8981\u306a\u30dd\u30a4\u30f3\u30c8\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u4e00\u822c\u7684\u306a\u8178\u9589\u585e\u3068\u306f\u7570\u306a\u308a\u3001\u5185\u81d3\u7b4b\u75c7\u306e\u60a3\u8005\u3055\u3093\u306b\u5bfe\u3057\u3066\u300c\u8178\u3092\u5207\u3063\u305f\u308a\u3064\u306a\u3044\u3060\u308a\u3059\u308b\u624b\u8853\u300d\u3092\u5b89\u6613\u306b\u884c\u3046\u3068\u3001\u7652\u7740\uff08\u8178\u540c\u58eb\u304c\u304f\u3063\u3064\u304f\u3053\u3068\uff09\u304c\u8d77\u304d\u3066\u3001\u3055\u3089\u306b\u8178\u304c\u52d5\u304b\u306a\u304f\u306a\u308a\u3001\u75c7\u72b6\u304c\u60aa\u5316\u3059\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u7d4c\u9a13\u8c4a\u5bcc\u306a\u5c02\u9580\u533b\uff08\u5c0f\u5150\u5916\u79d1\u533b\u306a\u3069\uff09\u3068\u76f8\u8ac7\u3057\u3001\u672c\u5f53\u306b\u5fc5\u8981\u306a\u624b\u8853\uff08\u80c3\u308d\u3046\u9020\u8a2d\u3084\u3001\u3069\u3046\u3057\u3066\u3082\u907f\u3051\u3089\u308c\u306a\u3044\u5834\u5408\u306e\u4eba\u5de5\u809b\u9580\u306a\u3069\uff09\u3060\u3051\u3092\u614e\u91cd\u306b\u9078\u629e\u3059\u308b\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"6_%E5%B0%8F%E8%85%B8%E7%A7%BB%E6%A4%8D\"><\/span><strong>6. \u5c0f\u8178\u79fb\u690d<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>TPN\uff08\u70b9\u6ef4\uff09\u3067\u306e\u7ba1\u7406\u304c\u96e3\u3057\u304f\u306a\u3063\u305f\u5834\u5408\uff08\u30ab\u30c6\u30fc\u30c6\u30eb\u3092\u5165\u308c\u308b\u8840\u7ba1\u304c\u306a\u304f\u306a\u3063\u305f\u3001\u91cd\u3044\u809d\u969c\u5bb3\u304c\u51fa\u305f\u306a\u3069\uff09\u306f\u3001\u5c0f\u8178\u79fb\u690d\u3084\u591a\u81d3\u5668\u79fb\u690d\u304c\u691c\u8a0e\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%97%A5%E3%80%85%E3%81%AE%E7%94%9F%E6%B4%BB%E3%81%A7%E3%81%AE%E5%B7%A5%E5%A4%AB%E3%81%A8%E6%B3%A8%E6%84%8F%E7%82%B9\"><\/span><strong>\u65e5\u3005\u306e\u751f\u6d3b\u3067\u306e\u5de5\u592b\u3068\u6ce8\u610f\u70b9<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u5185\u81d3\u7b4b\u75c71\u578b\u3068\u4ed8\u304d\u5408\u3044\u306a\u304c\u3089\u751f\u6d3b\u3059\u308b\u305f\u3081\u306b\u3001\u77e5\u3063\u3066\u304a\u3044\u3066\u3044\u305f\u3060\u304d\u305f\u3044\u30dd\u30a4\u30f3\u30c8\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u611f\u67d3\u75c7\u5bfe\u7b56:<br>CV\u30ab\u30c6\u30fc\u30c6\u30eb\u3092\u5165\u308c\u3066\u3044\u308b\u5834\u5408\u3001\u767a\u71b1\u306f\u300c\u7dca\u6025\u4e8b\u614b\u300d\u306e\u30b5\u30a4\u30f3\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002\u71b1\u304c\u51fa\u305f\u3089\u3059\u3050\u306b\u75c5\u9662\u306b\u9023\u7d61\u3059\u308b\u4f53\u5236\u3092\u6574\u3048\u3066\u304a\u304d\u307e\u3057\u3087\u3046\u3002<\/li>\n\n\n\n<li>\u6392\u4fbf\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb:<br>\u4fbf\u79d8\u306f\u5927\u6575\u3067\u3059\u3002\u6d63\u8178\u3084\u6d17\u8178\uff08\u304a\u5c3b\u304b\u3089\u304a\u6e6f\u3092\u5165\u308c\u3066\u4fbf\u3092\u6d17\u3044\u51fa\u3059\uff09\u3092\u7fd2\u6163\u306b\u3057\u3066\u3001\u8178\u306e\u4e2d\u306b\u4fbf\u3092\u6e9c\u3081\u306a\u3044\u3088\u3046\u306b\u3057\u307e\u3057\u3087\u3046\u3002<\/li>\n\n\n\n<li>\u898b\u305f\u76ee\u3067\u306f\u5206\u304b\u308a\u306b\u304f\u3044:<br>\u70b9\u6ef4\u3067\u6804\u990a\u304c\u8db3\u308a\u3066\u3044\u308c\u3070\u3001\u898b\u305f\u76ee\u306f\u5143\u6c17\u306b\u898b\u3048\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002\u3057\u304b\u3057\u3001\u5185\u90e8\u3067\u306f\u304a\u8179\u306e\u75db\u307f\u3084\u5f35\u308a\u3068\u95d8\u3063\u3066\u3044\u307e\u3059\u3002\u300c\u6020\u3051\u3066\u3044\u308b\u300d\u3068\u8aa4\u89e3\u3055\u308c\u306a\u3044\u3088\u3046\u3001\u5b66\u6821\u3084\u5468\u56f2\u3078\u306e\u7406\u89e3\u3092\u6c42\u3081\u308b\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%82%88%E3%81%8F%E3%81%82%E3%82%8B%E8%B3%AA%E5%95%8F%EF%BC%88FAQ%EF%BC%89\"><\/span><strong>\u3088\u304f\u3042\u308b\u8cea\u554f\uff08FAQ\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>Q. \u6210\u9577\u3059\u308b\u3053\u3068\u306f\u3067\u304d\u307e\u3059\u304b\uff1f<\/p>\n\n\n\n<p>A. \u4e2d\u5fc3\u9759\u8108\u6804\u990a\uff08TPN\uff09\u306e\u7ba1\u7406\u6280\u8853\u304c\u9032\u6b69\u3057\u305f\u305f\u3081\u3001\u9069\u5207\u306a\u6804\u990a\u7ba1\u7406\u3092\u884c\u3048\u3070\u3001\u8eab\u9577\u3082\u4f38\u3073\u3001\u5927\u4eba\u306b\u306a\u308b\u307e\u3067\u6210\u9577\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u6210\u4eba\u3057\u3066\u793e\u4f1a\u751f\u6d3b\u3092\u9001\u3063\u3066\u3044\u308b\u60a3\u8005\u3055\u3093\u3082\u3044\u3089\u3063\u3057\u3083\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>Q. \u907a\u4f1d\u5b50\u6cbb\u7642\u306f\u3042\u308a\u307e\u3059\u304b\uff1f<\/p>\n\n\n\n<p>A. \u73fe\u6642\u70b9\u3067\u306f\u307e\u3060\u5b9f\u7528\u5316\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u304c\u3001ACTG2\u306a\u3069\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u304c\u7279\u5b9a\u3055\u308c\u305f\u3053\u3068\u3067\u3001\u4e16\u754c\u4e2d\u3067\u7814\u7a76\u304c\u9032\u3081\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u5c06\u6765\u7684\u306a\u6cbb\u7642\u6cd5\u306e\u958b\u767a\u304c\u671f\u5f85\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>Q. \u6b21\u306e\u5b50\u306b\u907a\u4f1d\u3057\u307e\u3059\u304b\uff1f<\/p>\n\n\n\n<p>A. \u89aa\u5fa1\u3055\u3093\u304cACTG2\u5909\u7570\u3092\u6301\u3063\u3066\u3044\u308b\u5834\u5408\u306f50%\u306e\u78ba\u7387\u3067\u907a\u4f1d\u3057\u307e\u3059\u3002\u89aa\u5fa1\u3055\u3093\u304c\u5909\u7570\u3092\u6301\u3063\u3066\u3044\u306a\u3044\uff08\u304a\u5b50\u69d8\u306e\u7a81\u7136\u5909\u7570\uff09\u5834\u5408\u306f\u3001\u78ba\u7387\u306f\u4e00\u822c\u3068\u540c\u3058\u304f\u975e\u5e38\u306b\u4f4e\u3044\u3067\u3059\u3002\u6b21\u306e\u598a\u5a20\u3092\u8003\u3048\u308b\u969b\u306f\u3001\u81e8\u5e8a\u907a\u4f1d\u5c02\u9580\u533b\u306b\u3088\u308b\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3092\u53d7\u3051\u308b\u3053\u3068\u3092\u5f37\u304f\u304a\u52e7\u3081\u3057\u307e\u3059\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%BE%E3%81%A8%E3%82%81\"><\/span><strong>\u307e\u3068\u3081<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u3053\u3053\u307e\u3067\u306e\u91cd\u8981\u30dd\u30a4\u30f3\u30c8\u3092\u632f\u308a\u8fd4\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li>\u5185\u81d3\u7b4b\u75c71\u578b\uff08ACTG2\u95a2\u9023\uff09\u306f\u3001\u5e73\u6ed1\u7b4b\u306e\u7570\u5e38\u306b\u3088\u308a\u3001\u8178\u3084\u8180\u80f1\u304c\u52d5\u304b\u306a\u304f\u306a\u308b\u75c5\u6c17\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4e3b\u306a\u75c7\u72b6<\/strong>\u306f\u3001\u6162\u6027\u507d\u6027\u8178\u9589\u585e\uff08\u304a\u8179\u306e\u5f35\u308a\u3001\u5614\u5410\uff09\u3068\u5de8\u5927\u8180\u80f1\uff08\u6392\u5c3f\u969c\u5bb3\uff09\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u539f\u56e0<\/strong>\u306fACTG2\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308b\u3001\u7b4b\u8089\u306e\u9aa8\u7d44\u307f\u306e\u7570\u5e38\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8a3a\u65ad<\/strong>\u306b\u306f\u907a\u4f1d\u5b50\u691c\u67fb\u304c\u6709\u52b9\u3067\u3042\u308a\u3001\u5b89\u6613\u306a\u958b\u8179\u624b\u8853\u306f\u907f\u3051\u308b\u3079\u304d\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6cbb\u7642<\/strong>\u306e\u4e2d\u5fc3\u306f\u3001\u4e2d\u5fc3\u9759\u8108\u6804\u990a\uff08TPN\uff09\u306b\u3088\u308b\u6804\u990a\u7ba1\u7406\u3068\u3001\u5c0e\u5c3f\u306a\u3069\u306e\u5bfe\u75c7\u7642\u6cd5\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4e88\u5f8c<\/strong>\u306f\u3001\u30ab\u30c6\u30fc\u30c6\u30eb\u611f\u67d3\u75c7\u306e\u4e88\u9632\u3068\u6804\u990a\u7ba1\u7406\u306b\u3088\u3063\u3066\u5927\u304d\u304f\u6539\u5584\u3057\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ol>\n\n\n<!--nipt_mono-->\r\n<div class=\"nipt-mono\">\r\n    <div class=\"nipt-mono-btn\">\r\n        <a href=\"\/nipt\/nipt-mono\/\">\r\n            <img decoding=\"async\" loading=\"lazy\" src=\"\/nipt\/wp-content\/uploads\/2026\/03\/NIPT-MONO.webp\" alt=\"NIPT-MONO\u3067\u8abf\u3079\u3089\u308c\u307e\u3059\">\r\n         <\/a>\r\n    <\/div>\r\n<\/div>\r\n\r\n<style>\r\n.nipt-mono {\r\n    text-align: center; \/* \u89aa\u8981\u7d20\u3067\u6a2a\u4e2d\u592e *\/\r\n}\r\n.nipt-mono a img {\r\n    display: inline-block; \/* \u753b\u50cf\u3092\u30a4\u30f3\u30e9\u30a4\u30f3\u30d6\u30ed\u30c3\u30af\u5316\u3057\u3066 text-align \u306b\u53cd\u6620 *\/\r\n    width: 333px;\r\n}\r\n<\/style>\r\n<!--\/nipt_mono-->\r\n\r\n\n","protected":false},"excerpt":{"rendered":"\u304a\u5b50\u69d8\u3084\u3054\u5bb6\u65cf\u304c\u300c\u5185\u81d3\u7b4b\u75c71\u578b\uff08Visc&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/visceral-myopathy-type1-actg2-guide\/\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":122,"featured_media":119511,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[1392],"tags":[],"class_list":["post-122238","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-1392"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/122238","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\/122"}],"replies":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/comments?post=122238"}],"version-history":[{"count":2,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/122238\/revisions"}],"predecessor-version":[{"id":126390,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/122238\/revisions\/126390"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/119511"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=122238"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=122238"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=122238"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}