{"id":116737,"date":"2025-09-26T11:35:55","date_gmt":"2025-09-26T02:35:55","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-intellectual-disability-can-detect\/"},"modified":"2025-09-26T11:49:32","modified_gmt":"2025-09-26T02:49:32","slug":"nipt-intellectual-disability-can-detect","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-intellectual-disability-can-detect\/?lang=en","title":{"rendered":"Can Intellectual Disability Be Detected by NIPT? What You Should Know Before Testing"},"content":{"rendered":"\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\/nipt-intellectual-disability-can-detect\/?lang=en\/#What_Is_Intellectual_Disability_%E2%80%94_Its_Definition_and_Causes\" >What Is Intellectual Disability \u2014 Its Definition and Causes<\/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\/nipt-intellectual-disability-can-detect\/?lang=en\/#What_Is_NIPT_Basic_Mechanism_and_Target_Disorders\" >What Is NIPT? Basic Mechanism and Target Disorders<\/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\/nipt-intellectual-disability-can-detect\/?lang=en\/#Can_NIPT_%E2%80%9CSee%E2%80%9D_Intellectual_Disability\" >Can NIPT \u201cSee\u201d Intellectual Disability?<\/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\/nipt-intellectual-disability-can-detect\/?lang=en\/#Accuracy_of_NIPT_and_What_to_Watch_For\" >Accuracy of NIPT and What to Watch For<\/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\/nipt-intellectual-disability-can-detect\/?lang=en\/#Points_You_Should_Know_Before_Testing\" >Points You Should Know Before Testing<\/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\/nipt-intellectual-disability-can-detect\/?lang=en\/#The_NIPT_Process_Timing\" >The NIPT Process &amp; Timing<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-intellectual-disability-can-detect\/?lang=en\/#Cost_of_NIPT_and_Insurance_Coverage_Status\" >Cost of NIPT and Insurance Coverage Status<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-intellectual-disability-can-detect\/?lang=en\/#How_to_Respond_to_a_Positive_Result_Postnatal_Support\" >How to Respond to a Positive Result &amp; Postnatal Support<\/a><\/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\/nipt-intellectual-disability-can-detect\/?lang=en\/#Things_Families_Should_Think_Through_in_Advance\" >Things Families Should Think Through in Advance<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-intellectual-disability-can-detect\/?lang=en\/#Future_Prospects_for_NIPT_Intellectual_Disability_Diagnosis\" >Future Prospects for NIPT &amp; Intellectual Disability Diagnosis<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-intellectual-disability-can-detect\/?lang=en\/#Summary\" >Summary<\/a><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"What_Is_Intellectual_Disability_%E2%80%94_Its_Definition_and_Causes\"><\/span>What Is Intellectual Disability \u2014 Its Definition and Causes<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>Intellectual disability (ID) refers to a condition in which the IQ is roughly 70 or below, onset occurs before age 18, and there are limitations in conceptual, social, and practical skills. It is formally defined in DSM\u20115 and ICD\u201111 and often entails needing support in daily life and social activities.<br>Its causes can be broadly divided into three categories:<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li>Chromosomal \/ genetic factors<br>\u2002e.g. Down syndrome, Fragile X syndrome, Williams syndrome<\/li>\n\n\n\n<li>Fetal \/ perinatal environmental factors<br>\u2002e.g. maternal infections, hypoxia, extreme malnutrition<\/li>\n\n\n\n<li>Acquired (postnatal) factors<br>\u2002e.g. severe infections, trauma<\/li>\n<\/ol>\n\n\n\n<p>Among these, the type potentially detectable before birth is intellectual disability arising from chromosomal abnormalities.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"What_Is_NIPT_Basic_Mechanism_and_Target_Disorders\"><\/span>What Is NIPT? Basic Mechanism and Target Disorders<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> (Non\u2011Invasive Prenatal Testing) is a test that analyzes fetal DNA derived from the placenta in the mother\u2019s blood to noninvasively screen for chromosomal abnormalities.<br>In Japan, the standard targets for <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> are:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Trisomy 21 (Down syndrome)<\/li>\n\n\n\n<li>Trisomy 18 (Edwards syndrome)<\/li>\n\n\n\n<li>Trisomy 13 (Patau syndrome)<\/li>\n<\/ul>\n\n\n\n<p>In recent years, in clinical research and some institutions, microdeletion syndromes and structural abnormalities are also included, allowing earlier detection of cases that may involve intellectual disability.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Can_NIPT_%E2%80%9CSee%E2%80%9D_Intellectual_Disability\"><\/span>Can NIPT \u201cSee\u201d Intellectual Disability?<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>Intellectual disability types possibly detectable<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Down syndrome (Trisomy 21): often accompanied by mild to moderate intellectual disability; detection accuracy is high<\/li>\n\n\n\n<li>Trisomy 18 &amp; 13: often accompanied by severe intellectual disability, though many cases have poor prognosis<\/li>\n\n\n\n<li>Microdeletion syndromes, etc.: some structural abnormalities associated with developmental delay or intellectual disability<\/li>\n<\/ul>\n\n\n\n<p><strong>Intellectual disability types not detectable<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Conditions without chromosomal abnormalities such as autism, <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/adhd-genetics-symptoms-support\/\">ADHD<\/a>, learning disabilities<\/li>\n\n\n\n<li>Single-gene disorders (e.g. Fragile X syndrome)<\/li>\n\n\n\n<li>Postnatal or environmental causes such as drug exposure, infection, hypoxia<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Accuracy_of_NIPT_and_What_to_Watch_For\"><\/span>Accuracy of NIPT and What to Watch For<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>The positive predictive value (PPV) depends on maternal age (e.g. about 61% at age 30, ~80% at age 35, ~94% at age 40)<\/li>\n\n\n\n<li>The negative predictive value (NPV) is extremely high, often over 99.9%<\/li>\n\n\n\n<li>If the result is positive, confirmatory tests (e.g. amniocentesis) are absolutely necessary<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Points_You_Should_Know_Before_Testing\"><\/span>Points You Should Know Before Testing<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Clarify what you want to know: presence of intellectual disability? Or for preparation?<\/li>\n\n\n\n<li>Undergo genetic counseling: essential to calmly interpret results and understand options<\/li>\n\n\n\n<li>Choose a trustworthy medical facility: confirm it is a certified institution<\/li>\n\n\n\n<li>Consider ethical \/ psychological aspects: a positive result does not imply abortion by default; family discussion and social support are crucial<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"The_NIPT_Process_Timing\"><\/span>The NIPT Process &amp; Timing<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>The typical flow for <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> is as follows:<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li>Visit an obstetrics clinic around week 10<\/li>\n\n\n\n<li>Confirm gestational age<\/li>\n\n\n\n<li>Schedule genetic counseling (often required at certified facilities)<\/li>\n\n\n\n<li>Initial counseling<br>\u2002- Explanation of test mechanism, target disorders, accuracy<br>\u2002- Discussion of options and responses for positive results<\/li>\n\n\n\n<li>Blood draw (around weeks 10\u201315)<\/li>\n\n\n\n<li>Testing period (usually 1\u20132 weeks)<\/li>\n\n\n\n<li>Result explanation and, if needed, confirmatory testing<br>\u2002- If positive, amniocentesis is generally performed from weeks 15\u201318 onward<br>\u2002- Even with negative results, 100% certainty is not guaranteed; follow\u2011up observation may be needed<\/li>\n<\/ol>\n\n\n\n<p><strong>Key point:<\/strong> Be mentally prepared to take next steps once the test result arrives.<\/p>\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\/2025\/09\/24914789_s.webp\" alt=\"\u533b\u8005\" class=\"wp-image-116189\"\/><\/figure><\/div>\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Cost_of_NIPT_and_Insurance_Coverage_Status\"><\/span>Cost of NIPT and Insurance Coverage Status<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>In Japan, <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> is often conducted as a self\u2011pay service, and costs vary by facility and test items.<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Standard three\u2011chromosome test (trisomies 21, 18, 13): about \u00a5100,000 to \u00a5200,000<\/li>\n\n\n\n<li>Expanded tests (including full\u2011chromosome, microdeletion syndromes, etc.): about \u00a5150,000 to \u00a5250,000<br>Currently, public health insurance generally does not cover <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>, but depending on future policy changes or research outcomes, some conditions may become eligible.<br>If costs are a concern, you are advised to consult a local government or medical institution\u2019s genetic counselor.<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"How_to_Respond_to_a_Positive_Result_Postnatal_Support\"><\/span>How to Respond to a Positive Result &amp; Postnatal Support<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>If <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> yields a positive result, the most important thing is to calmly proceed with the next steps:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Perform confirmatory testing (amniocentesis or CVS)<\/li>\n\n\n\n<li>Even with a positive result, diagnosis confirmation is essential<\/li>\n\n\n\n<li>The miscarriage risk from amniocentesis is low (~0.1\u20130.3%)<\/li>\n\n\n\n<li>Discuss with family and seek psychological support<\/li>\n\n\n\n<li>Plan the postnatal care environment and support system<\/li>\n\n\n\n<li>Medical social workers or psychologists may help<\/li>\n\n\n\n<li>Check local support schemes and welfare services<br>\u2002 such as developmental support centers, support for medically\u2011fragile children, child development \/ therapeutic programs<\/li>\n<\/ul>\n\n\n\n<p><strong>Important reminder:<\/strong> <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> is not merely a test intended for pregnancy termination; it holds significant meaning as a preparatory tool for postnatal care.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Things_Families_Should_Think_Through_in_Advance\"><\/span>Things Families Should Think Through in Advance<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>Before opting for <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>, families may find it helpful to discuss the following:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>What is the purpose of taking the test?<\/li>\n\n\n\n<li>Is it for preparation after birth, or for decision making?<\/li>\n\n\n\n<li>If the result is positive, how will you respond?<br>\u2002 Will you continue the pregnancy and prepare support, or consider other options?<\/li>\n\n\n\n<li>Will you accept and raise a child with support after birth?<\/li>\n\n\n\n<li>Do you already have a plan for postnatal support systems?<br>\u2002 Including spouse, family, workplace, municipal support networks, etc.<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Future_Prospects_for_NIPT_Intellectual_Disability_Diagnosis\"><\/span>Future Prospects for NIPT &amp; Intellectual Disability Diagnosis<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>In recent years, with advances in next\u2011generation sequencing:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Full chromosome analysis and microdeletion\/duplication tests are gradually becoming feasible<\/li>\n\n\n\n<li>In the future, early diagnosis of single-gene disorders related to intellectual or developmental disabilities may become possible<\/li>\n<\/ul>\n\n\n\n<p>However, as the range of predictability expands, ethical and social issues also increase:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>How test results are communicated to families<\/li>\n\n\n\n<li>Managing psychological burden on families<\/li>\n\n\n\n<li>Building adequate social support systems<\/li>\n<\/ul>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> is expected to evolve from a simple screening tool to part of life planning, giving it deeper meaning in the context of prenatal care.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Summary\"><\/span>Summary<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Only those intellectual disabilities arising from chromosomal abnormalities can possibly be detected by <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a><\/li>\n\n\n\n<li>Those due to environmental factors or gene mutations are not covered<\/li>\n\n\n\n<li>Positive results always require confirmatory testing and genetic counseling<\/li>\n<\/ul>\n\n\n\n<p><\/p>\n","protected":false},"excerpt":{"rendered":"What Is Intellectual&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-intellectual-disability-can-detect\/?lang=en\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":122,"featured_media":116721,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[97],"tags":[],"class_list":["post-116737","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\/116737","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=116737"}],"version-history":[{"count":2,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/116737\/revisions"}],"predecessor-version":[{"id":116746,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/116737\/revisions\/116746"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/116721"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=116737"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=116737"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=116737"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}