{"id":81008,"date":"2025-08-22T14:20:48","date_gmt":"2025-08-22T05:20:48","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=81008"},"modified":"2025-08-22T14:20:50","modified_gmt":"2025-08-22T05:20:50","slug":"detection-of-cri-du-chat-syndrome-prader-willi-syndrome-and-angelman-syndrome","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/detection-of-cri-du-chat-syndrome-prader-willi-syndrome-and-angelman-syndrome\/?lang=en","title":{"rendered":"Detection of Cri-du-chat Syndrome, Prader-Willi Syndrome, and Angelman Syndrome"},"content":{"rendered":"\n<style>\nh1, p, p.break-normal{\nword-break: normal;\n}\n#article .post_content p {\nword-break: normal;\ntext-align: justify;\n}\n<\/style>\n\n\n\n<p><strong>Article Summary<\/strong><\/p>\n\n\n\n<p>Detecting genetic abnormalities is crucial for the early identification of specific genetic disorders and the implementation of proper medical management. In particular, <strong>Cri-du-chat syndrome (5p15.2)<\/strong>, <strong>Prader-Willi syndrome (15q11.2)<\/strong>, and <strong>Angelman syndrome (15q11.2)<\/strong> benefit significantly from early diagnosis through accurate testing. However, there are currently <strong>no laboratories in Japan<\/strong> that perform tests for these disorders, meaning testing must be conducted <strong>through overseas laboratories<\/strong>.<\/p>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_82_2 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-3'><a class=\"ez-toc-link ez-toc-heading-1\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/detection-of-cri-du-chat-syndrome-prader-willi-syndrome-and-angelman-syndrome\/?lang=en\/#Current_Situation_and_Response_Strategies\" >Current Situation and Response Strategies<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/detection-of-cri-du-chat-syndrome-prader-willi-syndrome-and-angelman-syndrome\/?lang=en\/#Future_Prospects\" >Future Prospects<\/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\/detection-of-cri-du-chat-syndrome-prader-willi-syndrome-and-angelman-syndrome\/?lang=en\/#At_Hiro_Clinic\" >At Hiro Clinic<\/a><\/li><\/ul><\/nav><\/div>\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Current_Situation_and_Response_Strategies\"><\/span><strong>Current Situation and Response Strategies<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>At present, genetic testing for <strong>Cri-du-chat syndrome<\/strong>, <strong>Prader-Willi syndrome<\/strong>, and <strong>Angelman syndrome<\/strong> cannot be performed within Japan. The primary reasons include:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>No domestic laboratories currently offering testing for these three conditions<\/strong><strong><br><\/strong> There is no facility within Japan equipped to detect these specific genetic disorders.<br><\/li>\n\n\n\n<li><strong>Limited domestic testing technology<\/strong><strong><br><\/strong> In approximately 3,000 cases tested so far, none have resulted in a confirmed detection of these genetic abnormalities.<br>The difficulty arises because detecting these disorders\u2014especially <strong>microdeletions<\/strong>\u2014requires <strong>high technical precision and significant costs<\/strong>, making it a challenge for domestic labs to handle at this time.<br><\/li>\n<\/ul>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Future_Prospects\"><\/span><strong>Future Prospects<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>The introduction of testing technology from <strong>Illumina (California, USA)<\/strong> would make domestic testing feasible. Illumina\u2019s advanced platform is highly effective in identifying microdeletions related to these disorders. While preparations for domestic implementation are underway, <strong>it will still take time before this becomes available in Japan<\/strong>.<\/p>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"At_Hiro_Clinic\"><\/span><strong>At Hiro Clinic<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p><strong>Hiro Clinic<\/strong> not only provides domestic testing but also offers the <strong>P-Mama Plan<\/strong>, which sends samples to <strong>Illumina laboratories overseas<\/strong> for analysis. This makes it possible to reliably detect these disorders.<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Most cases involve larger deletions<\/strong><strong><br><\/strong> Cri-du-chat syndrome (5p15.2), Prader-Willi syndrome (15q11.2), and Angelman syndrome (15q11.2) often involve larger genetic deletions, which makes detection comparatively easier.<br>Past research has shown that such deletions are almost always detectable.<br><\/li>\n\n\n\n<li><strong>Testing capabilities<\/strong><strong><br><\/strong> With Illumina\u2019s advanced technology, it is possible to detect not only larger deletions but also <strong>microdeletions and a wide range of genetic abnormalities<\/strong>.<br>Efforts are ongoing to establish the ability to detect these disorders domestically, and it is expected that domestic testing will eventually become available.<br><\/li>\n<\/ul>\n\n\n\n<p>If you wish to undergo testing for these disorders, the <strong>P-Mama Plan<\/strong> is recommended. This approach ensures accuracy and reliability, providing you with the best testing options for peace of mind.<\/p>\n\n\n\n    <a href=\"\/nipt\/nipt\/nipt\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">NIPT\uff08\u65b0\u578b\u51fa\u751f\u524d\u8a3a\u65ad\uff09\u3067\u77e5\u7684\u969c\u5bb3\u304c\u308f\u304b\u308b <\/div>\n          <div class=\"blog-card-excerpt\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u3067\u884c\u3063\u3066\u3044\u308bNIPT\u306e\u307e\u3068\u3081\u3067\u3059\u3002\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u306eNIPT\u3067\u306f\u77e5\u7684\u969c\u5bb3\u30fb\u767a\u9054\u969c\u5bb3\u3092\u4f34\u3046\u591a\u6570\u306e\u75be\u60a3\u3092\u51fa\u751f\u524d\u306b\u691c\u51fa\u3059\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<div class=\"wp-block-group references\">\n<p>\u3010References\u3011<\/p>\n<ul>\n<li><a href=\"https:\/\/www.small-baby.jp\/about\/nicu.html\" target=\"_blank\" rel=\"noopener\">Explanation of NICU (Neonatal Intensive Care Unit)\uff5cSmallBaby<\/a><\/li>\n<li><a href=\"https:\/\/www.nicu.jp\/about\/\" target=\"_blank\" rel=\"noopener\">About NICU\/GCU | First Time in NICU<\/a><\/li>\n<li><a href=\"https:\/\/withheart.jp\/hoken\/ninpu\/column6\/nicu\" target=\"_blank\" rel=\"noopener\">Newborn Baby Admitted to NICU: Reasons, Features, and Costs Explained | WithHeart Insurance<\/a><\/li>\n<li><a href=\"https:\/\/www.stemcell.co.jp\/column\/%E6%97%A9%E7%94%A3%E3%81%A7%E7%94%A3%E3%81%BE%E3%82%8C%E3%81%9F%E8%B5%A4%E3%81%A1%E3%82%83%E3%82%93%E3%81%AE%E5%85%A5%E9%99%A2%E7%94%9F%E6%B4%BB%E3%81%AF%EF%BC%9F-nicu%E3%81%A3%E3%81%A6%E3%81%A9\/\" target=\"_blank\" rel=\"noopener\">What is NICU for Premature Babies? Criteria, Hospitalization Period, and Cost Estimates Explained | Stem Cell Research Institute<\/a><\/li>\n<\/ul>\n<\/div>\n","protected":false},"excerpt":{"rendered":"Article Summary Dete&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/detection-of-cri-du-chat-syndrome-prader-willi-syndrome-and-angelman-syndrome\/?lang=en\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":101,"featured_media":80861,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[364],"tags":[],"class_list":["post-81008","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-from-pregnancy-to-childbirth"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/81008","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=81008"}],"version-history":[{"count":2,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/81008\/revisions"}],"predecessor-version":[{"id":111873,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/81008\/revisions\/111873"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/80861"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=81008"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=81008"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=81008"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}