{"id":85948,"date":"2021-07-02T09:24:20","date_gmt":"2021-07-02T00:24:20","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-misdiagnosis\/"},"modified":"2024-12-11T18:04:23","modified_gmt":"2024-12-11T09:04:23","slug":"amniocentesis-misdiagnosis","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-misdiagnosis\/?lang=en","title":{"rendered":"Amniocentesis was negative but the baby had Down Syndrome [Doctor-supervised]"},"content":{"rendered":"\n<p>Amniocentesis is said to be a definitive test, but no test has a 100% accuracy rate.\u00a0I will explain the case of amniocentesis for\u00a0<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-down-syndrome\/?lang=en\">Down syndrome.<\/a><\/p>\n\n\n\n<div class=\"toc\">\n\t<ul>\n\t\t<li><a href=\"#c1\">Patterns of Down syndrome type and amniocentesis misdiagnosis<\/a>\n\t\t\t<ul>\n\t\t\t\t<li><a href=\"#c1-1\">Pseudo mosaic and true mosaic<\/a><\/li>\n\t\t\t\t<li><a href=\"#c1-2\">Multiple pregnancy<\/a><\/li>\n\t\t\t<\/ul>\n\t\t<\/li>\n\t<\/ul>\n  <button class=\"toc_more\">Open table of contents<\/button>\n<\/div>\n\n\n<p style=\"width:100%;max-width:300px;margin:0 auto;\"><a href=\"\/nipt\/\" class=\"content-bnr about\"><img decoding=\"async\" src=\"\/nipt\/wp-content\/themes\/hiro_nipt\/img\/banner\/nipt04pc.png\" alt=\"\u80ce\u5150\u306e\u6027\u5225\u306f10\u9031\u76ee\u3067\u308f\u304b\u308b\"><\/a> <\/p>\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\/amniocentesis-misdiagnosis\/?lang=en\/#Types_of_Down_syndrome_and_amniocentesis_misdiagnosis_patterns\" >Types of Down syndrome and amniocentesis misdiagnosis patterns<\/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\/amniocentesis-misdiagnosis\/?lang=en\/#False_mosaicism_and_true_mosaicism\" >False mosaicism and true mosaicism<\/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\/amniocentesis-misdiagnosis\/?lang=en\/#Multiple_pregnancy\" >Multiple pregnancy<\/a><\/li><\/ul><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\" id=\"c1\"><span class=\"ez-toc-section\" id=\"Types_of_Down_syndrome_and_amniocentesis_misdiagnosis_patterns\"><\/span>Types of Down syndrome and amniocentesis misdiagnosis patterns<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-down-syndrome\/?lang=en\">Chromosomal abnormalities in Down syndrome<\/a>&nbsp;are classified into trisomy (standard type): 94%; translocation type: 5%; and mosaic type: 1%.<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter\"><img decoding=\"async\" src=\"https:\/\/lh3.googleusercontent.com\/G8nuDwaPpMWFeaCtQlyOTtSqaIZFPio2wjPYRKhGUo05O6yhUNu7I8S2e7E7-th2GkKusSYuk6jZIn3wuW4knjoX4FOkHLJd60nrHaxFvX8PDTsjIK-0FQG8ecxRTjrqgpxmFf6v\" alt=\"\"\/><\/figure><\/div>\n\n\n<p>In the case of mosaicism, it is rare that the amniotic fluid test results and the diagnosis of the baby at birth differ. There are two types of chromosomal mosaicism: true mosaicism and pseudo mosaicism.<\/p>\n\n\n\n    <a href=\"\/nipt\/amniotic-fluid-test\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u51fa\u751f\u524d\u691c\u67fb\u306e\u7f8a\u6c34\u691c\u67fb\u3068\u306f\uff1f\u307e\u3068\u3081\u3010\u533b\u5e2b\u76e3\u4fee\u3011 <\/div>\n          <div class=\"blog-card-excerpt\">NIPT(\u65b0\u578b\u51fa\u751f\u524d\u8a3a\u65ad)\u306f\u3001\u907a\u4f1d\u5b50\u306e\u91cf\u304b\u3089\u67d3\u8272\u4f53\u306e\u6570\u3084\u5168\u67d3\u8272\u4f53\u9818\u57df\u90e8\u5206\u6b20\u5931\u30fb\u91cd\u8907\u75be\u60a3\u3092\u307f\u308b\u691c\u67fb\u3067\u3059\u304c\u3001\u7f8a\u6c34\u691c\u67fb\u306f\u67d3\u8272\u4f53\u305d\u306e\u3082\u306e\u3092\u7f8a\u6c34\u304b\u3089\u307f...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"c1-1\"><span class=\"ez-toc-section\" id=\"False_mosaicism_and_true_mosaicism\"><\/span>False mosaicism and true mosaicism<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>Pseudomosaicism occurs during the culture process after amniotic fluid is collected; the fetus is normal.<\/p>\n\n\n\n<p>In the case of true mosaicism, the fetus has both chromosomal abnormalities and normal cells. In this case, if both normal and abnormal cells are found during amniocentesis, the mosaicism type can be diagnosed.<\/p>\n\n\n\n<p>However, if only normal cells grow during the culture process, or if both types of cells grow but only normal cells are detected, it may not be discovered until birth that the baby is a chromosomal mosaic. In other words, in such cases, even if the amniotic fluid test shows that the baby is normal, the baby may be diagnosed with&nbsp;Down&nbsp;<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-down-syndrome\/?lang=en\">syndrome after birth.<\/a><\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"c1-2\"><span class=\"ez-toc-section\" id=\"Multiple_pregnancy\"><\/span>Multiple pregnancy<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>In addition, in the case of multiple pregnancies, even if the amniotic fluid of different fetuses is thought to be tested, it may actually be the same fetus, which could result in a misdiagnosis of an abnormality.<\/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\">\u77e5\u7684\u969c\u304c\u3044\u304c\u308f\u304b\u308bNIPT\u3068\u306f\uff08NIPT\u306e\u57fa\u672c\uff09 <\/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","protected":false},"excerpt":{"rendered":"Amniocentesis is sai&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-misdiagnosis\/?lang=en\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":1,"featured_media":25084,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[97],"tags":[],"class_list":["post-85948","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-uncategorized"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/85948","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\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/comments?post=85948"}],"version-history":[{"count":2,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/85948\/revisions"}],"predecessor-version":[{"id":85952,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/85948\/revisions\/85952"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/25084"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=85948"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=85948"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=85948"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}