{"id":116110,"date":"2025-09-24T17:34:44","date_gmt":"2025-09-24T08:34:44","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-22q11-deletion\/"},"modified":"2025-09-24T17:43:46","modified_gmt":"2025-09-24T08:43:46","slug":"nipt-22q11-deletion","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-22q11-deletion\/?lang=en","title":{"rendered":"Detectability of 22q11.2 Deletion Syndrome (DiGeorge Syndrome) via NIPT"},"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-22q11-deletion\/?lang=en\/#1_Introduction\" >1. Introduction<\/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-22q11-deletion\/?lang=en\/#2_What_is_22q112_Deletion_Syndrome_DiGeorge_Syndrome\" >2. What is 22q11.2 Deletion Syndrome (DiGeorge Syndrome)?<\/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-22q11-deletion\/?lang=en\/#3_Overview_of_NIPT_Non%E2%80%91Invasive_Prenatal_Genetic_Testing\" >3. Overview of NIPT (Non\u2011Invasive Prenatal Genetic Testing)<\/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-22q11-deletion\/?lang=en\/#4_Detectability_of_DiGeorge_Syndrome_by_NIPT\" >4. Detectability of DiGeorge Syndrome by NIPT<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-22q11-deletion\/?lang=en\/#41_Technical_Background\" >4.1 Technical Background<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-22q11-deletion\/?lang=en\/#42_Detection_Accuracy\" >4.2 Detection Accuracy<\/a><\/li><\/ul><\/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-22q11-deletion\/?lang=en\/#5_Limitations_Caveats_of_NIPT\" >5. Limitations &amp; Caveats of NIPT<\/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-22q11-deletion\/?lang=en\/#6_Clinical_Significance\" >6. Clinical Significance<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-22q11-deletion\/?lang=en\/#61_For_Pregnant_Women_Families\" >6.1 For Pregnant Women \/ Families<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-22q11-deletion\/?lang=en\/#62_For_Healthcare_Providers\" >6.2 For Healthcare Providers<\/a><\/li><\/ul><\/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-22q11-deletion\/?lang=en\/#7_International_Guidelines\" >7. International Guidelines<\/a><\/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\/nipt-22q11-deletion\/?lang=en\/#8_What_Expectant_Mothers_Should_Know\" >8. What Expectant Mothers Should Know<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-13\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-22q11-deletion\/?lang=en\/#9_Summary_So_Far\" >9. Summary So Far<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-22q11-deletion\/?lang=en\/#10_NIPT_Screening_Workflow_for_DiGeorge_Syndrome\" >10. NIPT Screening Workflow for DiGeorge Syndrome<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-15\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-22q11-deletion\/?lang=en\/#11_How_to_Choose_a_Medical_Facility\" >11. How to Choose a Medical Facility<\/a><\/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\/nipt-22q11-deletion\/?lang=en\/#12_Importance_of_Genetic_Counseling\" >12. Importance of Genetic Counseling<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-22q11-deletion\/?lang=en\/#13_Future_Prospects\" >13. Future Prospects<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-18\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-22q11-deletion\/?lang=en\/#14_Conclusion\" >14. Conclusion<\/a><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_Introduction\"><\/span>1. Introduction<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>22q11.2 deletion syndrome (DiGeorge syndrome) is a chromosomal abnormality caused by a deletion in a specific region on the long arm of human chromosome 22. It is characterized by a variety of clinical symptoms such as congenital heart defects, immune deficiency, cleft palate, developmental delay, and neuropsychiatric symptoms, making prenatal diagnosis and early detection highly important.<br>Traditionally, diagnosis has relied on definitive tests such as amniocentesis or chorionic villus sampling, which carry risks of miscarriage and are invasive. However, in recent years, Non\u2011Invasive Prenatal Testing (<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>) has been introduced, allowing screening using cell\u2011free fetal DNA in maternal blood. The possibility of detecting small deletions (microdeletions) like DiGeorge syndrome via <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> has gained attention.<br>In this article, based on the latest research evidence, we explain the possibility, accuracy, limitations, and clinical significance of detecting DiGeorge syndrome by <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>.<\/p>\n\n\n\n<p><\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_What_is_22q112_Deletion_Syndrome_DiGeorge_Syndrome\"><\/span>2. What is 22q11.2 Deletion Syndrome (DiGeorge Syndrome)?<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>DiGeorge syndrome is a genetic disorder caused by a deletion of about <strong>1.5 to 3 megabases (Mb)<\/strong> in the 22q11.2 region. Clinically, it presents with features including:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Congenital heart defects: particularly Tetralogy of Fallot and ventricular septal defects<\/li>\n\n\n\n<li>Cleft palate or palate anomalies<\/li>\n\n\n\n<li>Immune abnormalities: hypoplasia of the thymus leading to reduced T\u2011cells, increased risk of infections<\/li>\n\n\n\n<li>Developmental delay \/ intellectual disability: delayed language development, learning difficulties<\/li>\n\n\n\n<li>Neuropsychiatric symptoms: increased risk of attention deficit\/hyperactivity disorder (<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/adhd-genetics-symptoms-support\/\">ADHD<\/a>), autism spectrum disorders, schizophrenia<\/li>\n<\/ul>\n\n\n\n<p>Incidence is about 1 per 4,000 to 6,000 live births, and the diagnosis is often delayed in clinical practice. Thus, prenatal diagnosis plays a crucial role in disease management and in providing information to families.<\/p>\n\n\n\n<p><\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_Overview_of_NIPT_Non%E2%80%91Invasive_Prenatal_Genetic_Testing\"><\/span>3. Overview of NIPT (Non\u2011Invasive Prenatal Genetic Testing)<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> analyzes <strong>cell\u2011free fetal DNA (cffDNA)<\/strong> present in maternal blood to evaluate risk of chromosomal abnormalities. Key features of <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> include:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Non\u2011invasive: only maternal blood draw is needed, with virtually no miscarriage risk<\/li>\n\n\n\n<li>High\u2011accuracy screening: sensitivity for Trisomy 21, 18, and 13 is about 99%<\/li>\n\n\n\n<li>Can be performed after ~10 weeks of gestation: enabling early screening<\/li>\n\n\n\n<li>Although traditionally focused on trisomies (21, 18, 13), recent advances allow detection of microdeletions and microduplications, thereby enabling prenatal screening for conditions like DiGeorge syndrome<\/li>\n<\/ul>\n\n\n\n<p><\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_Detectability_of_DiGeorge_Syndrome_by_NIPT\"><\/span>4. Detectability of DiGeorge Syndrome by NIPT<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"41_Technical_Background\"><\/span>4.1 Technical Background<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>Because DiGeorge syndrome involves a small deletion, standard <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> has historically had difficulty detecting it. However, with the adoption of high\u2011precision sequencing technologies (e.g., Massively Parallel Sequencing, MPS) and targeted capture\u2011type analyses, it has become possible to infer copy number changes in the 22q11.2 region from maternal plasma. Key technical improvements include:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Increased sequencing depth: analyzing more sequencing reads than standard <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> to improve detection of small deletion regions<\/li>\n\n\n\n<li>Bioinformatics analysis: statistical evaluation of read count drops in the deletion region<\/li>\n\n\n\n<li>Targeted <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> designs: assays specialized for detecting the 22q11.2 deletion to further boost accuracy<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"42_Detection_Accuracy\"><\/span>4.2 Detection Accuracy<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>According to recent meta\u2011analyses, sensitivity of <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> for detecting DiGeorge syndrome is reported at <strong>approximately 75\u201395%<\/strong>, and specificity around <strong>99%<\/strong>. The Positive Predictive Value (PPV) depends on maternal age, gestational weeks, and whether the population is high risk or the general obstetric population.<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>In high\u2011risk pregnancies (e.g., suspected fetal heart defect), PPV tends to be higher<\/li>\n\n\n\n<li>In general, low\u2011risk populations, PPV may be lower, but <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> remains effective as a screening tool<\/li>\n<\/ul>\n\n\n\n<p><\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"5_Limitations_Caveats_of_NIPT\"><\/span>5. Limitations &amp; Caveats of NIPT<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>When screening for DiGeorge syndrome via <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>, several limitations and risks should be borne in mind:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Not diagnostic<\/strong><br><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> is a screening test; if the result is positive, confirmatory diagnosis via amniocentesis or chorionic villus sampling is required.<\/li>\n\n\n\n<li><strong>False positives \/ false negatives<\/strong><br>If the fetal fraction (the proportion of fetal DNA in maternal blood) is low, the risk of false negatives increases. Twin pregnancies or maternal obesity are conditions that may pose higher risk.<\/li>\n\n\n\n<li><strong>Not all 22q11.2 deletions are detectable<\/strong><br>Depending on how large the deletion is or its precise location, some deletions may fall outside the targeted region and be missed.<\/li>\n\n\n\n<li><strong>Cannot detect all microdeletions \/ duplications<\/strong><br>Microstructural abnormalities beyond those targeted or covered by the test design will not be detected.<\/li>\n<\/ul>\n\n\n\n<p><\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"6_Clinical_Significance\"><\/span>6. Clinical Significance<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"61_For_Pregnant_Women_Families\"><\/span>6.1 For Pregnant Women \/ Families<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/early-nipt-august-only\/\">Early<\/a> knowledge of risk for DiGeorge syndrome allows for:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Decision\u2011making about continuation or termination of pregnancy<\/li>\n\n\n\n<li>Preparing for postnatal medical care and early intervention<\/li>\n\n\n\n<li>Planning for likely complications such as heart defects or immunodeficiency<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"62_For_Healthcare_Providers\"><\/span>6.2 For Healthcare Providers<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Narrowing down the screening target group among high\u2011risk pregnancies<\/li>\n\n\n\n<li>Reducing psychological burden on pregnant women by offering non\u2011invasive methods<\/li>\n\n\n\n<li>Minimizing unnecessary invasive procedures and thus reducing miscarriage risk<\/li>\n<\/ul>\n\n\n\n<p><\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"7_International_Guidelines\"><\/span>7. International Guidelines<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>United States (ACOG)<\/strong><br>Recommends offering <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> for 22q11.2 deletion syndrome to high\u2011risk pregnancies; positive results must be followed by diagnostic confirmation.<\/li>\n\n\n\n<li><strong>Europe<\/strong><br>In countries like the UK, microdeletion <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> is offered under public healthcare to high\u2011risk pregnant women. Screening followed by confirmatory diagnostic testing is standard.<\/li>\n\n\n\n<li><strong>Japan<\/strong><br>In Japan, <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> for 22q11.2 deletion syndrome is generally treated as elective\/private medicine, often offered to women aged 35+ or other high\u2011risk pregnancies. It is recommended that patients receive detailed explanation of test accuracy, limitations, and the meaning of positive\/negative results.<\/li>\n<\/ul>\n\n\n\n<p><\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"8_What_Expectant_Mothers_Should_Know\"><\/span>8. What Expectant Mothers Should Know<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> is voluntary<\/li>\n\n\n\n<li>A positive result does not equal a diagnosis<\/li>\n\n\n\n<li>Genetic counseling is essential for decisions based on results<\/li>\n\n\n\n<li>Choose a reliable medical facility for testing<\/li>\n\n\n\n<li>Consider gestational age, maternal age, fetal health status in decision\u2011making<\/li>\n<\/ul>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"428\" src=\"\/nipt\/wp-content\/uploads\/2025\/09\/23042281_s.webp\" alt=\"\u598a\u5a66\" class=\"wp-image-116103\"\/><\/figure><\/div>\n\n\n<p><\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"9_Summary_So_Far\"><\/span>9. Summary So Far<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>22q11.2 deletion syndrome (DiGeorge syndrome) is a microdeletion disorder with diverse clinical manifestations and significant prenatal diagnostic value. With <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>, risk can be non\u2011invasively screened using maternal blood, which offers advantages for both pregnant women and healthcare providers.<br>Key points to keep in mind:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> can assess risk for DiGeorge syndrome<\/li>\n\n\n\n<li>Positive results require confirmatory diagnostic testing<\/li>\n\n\n\n<li>Genetic counseling is indispensable<\/li>\n\n\n\n<li>Choosing the proper testing facility and verifying test performance is critical<\/li>\n<\/ul>\n\n\n\n<p>Looking ahead, with advances in sequencing depth and targeted assays, screening performance for microdeletions is expected to improve, and the range of detectable disorders may expand. Shared information and careful decision\u2011making among pregnant women, families, and providers will be central to maximizing the value of prenatal diagnosis.<\/p>\n\n\n\n<p><\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"10_NIPT_Screening_Workflow_for_DiGeorge_Syndrome\"><\/span>10. NIPT Screening Workflow for DiGeorge Syndrome<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>Consent &amp; Genetic Counseling<\/strong><br>Prior to <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>, the healthcare provider should thoroughly explain the purpose of testing, what abnormalities can be detected, limitations, and the possibility of false positives\/negatives, and obtain informed consent.<\/li>\n\n\n\n<li><strong>Maternal Blood Collection<\/strong><br>Usually after ~10 weeks of gestation, about 10\u202fmL of blood is drawn. The sample contains cffDNA from the fetus in maternal plasma.<\/li>\n\n\n\n<li><strong>DNA Extraction &amp; Analysis<\/strong><br>Extract cffDNA and analyze the 22q11.2 region\u2019s copy number using NGS or targeted capture assays.<\/li>\n\n\n\n<li><strong>Result Interpretation<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>Negative (Low Risk):<\/strong> Deletion risk for 22q11.2 is judged low<\/li>\n\n\n\n<li><strong>Positive (High Risk):<\/strong> Elevated risk for 22q11.2 deletion; diagnostic confirmation via amniocentesis or CVS is recommended<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Reporting &amp; Follow\u2011Up<\/strong><br>The results are explained to the pregnant woman or family by medical staff or genetic counselor. If positive, plans are made for postnatal management and early interventions.<\/li>\n<\/ol>\n\n\n\n<p><\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"11_How_to_Choose_a_Medical_Facility\"><\/span>11. How to Choose a Medical Facility<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>Since <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> for DiGeorge syndrome requires more advanced analysis, it is recommended to select a facility that meets these criteria:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Experienced team in genetic counseling<\/li>\n\n\n\n<li>Offers <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> tests tailored for microdeletions<\/li>\n\n\n\n<li>Able to promptly perform diagnostic confirmation (amniocentesis \/ CVS)<\/li>\n\n\n\n<li>Transparent publication of test accuracy and performance history<\/li>\n\n\n\n<li>Provides a trustworthy environment to reduce patient anxiety<\/li>\n<\/ul>\n\n\n\n<p>Selecting a reliable facility helps support patient decisions and mental well\u2011being.<\/p>\n\n\n\n<p><\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"12_Importance_of_Genetic_Counseling\"><\/span>12. Importance of Genetic Counseling<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>Results from <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> for DiGeorge syndrome only indicate risk\u2014they do not diagnose. Knowing how to interpret them is crucial for pregnant women and families:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Positive result:<\/strong> Understanding the diagnostic follow\u2011up path, postnatal medical\/educational support, and lifestyle implications<\/li>\n\n\n\n<li><strong>Negative result:<\/strong> Recognize that risk is reduced but not all abnormalities are excluded<\/li>\n\n\n\n<li><strong>Psychological support:<\/strong> Screening tests can impose emotional burden; support from healthcare providers or counselors is important<\/li>\n<\/ul>\n\n\n\n<p><\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"13_Future_Prospects\"><\/span>13. Future Prospects<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>Advances in research and technology point toward:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Improved detection of microdeletions \/ duplications<\/strong><br>With deeper sequencing and better algorithms, it may be possible to detect even smaller deletions.<\/li>\n\n\n\n<li><strong>Multi\u2011disease screening<\/strong><br>Expanding beyond DiGeorge syndrome to include other microdeletion syndromes (e.g. <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/1p-36-deletion-syndrome\/\">1p36<\/a> deletion syndrome, Cri\u2011du\u2011chat syndrome, etc.).<\/li>\n\n\n\n<li><strong>Standardization &amp; Clinical Implementation<\/strong><br>As screening becomes more widespread and international guidelines are refined, the balancing of detection accuracy and safety is expected to improve.<\/li>\n\n\n\n<li><strong>Integration with Postnatal Care<\/strong><br>Coordinating prenatal diagnosis with treatment and management planning for conditions like cardiac defects or immunodeficiency after birth.<\/li>\n<\/ul>\n\n\n\n<p><\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"14_Conclusion\"><\/span>14. Conclusion<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>22q11.2 deletion syndrome (DiGeorge syndrome) is a microdeletion disorder for which prenatal diagnosis is highly beneficial. <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> enables non\u2011invasive risk assessment via maternal blood, offering many advantages for expectant mothers and healthcare providers.<br>However, it must be emphasized:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> is a screening tool, not diagnostic<\/li>\n\n\n\n<li>Positive results always require confirmatory testing<\/li>\n\n\n\n<li>Genetic counseling and careful choice of testing facility are essential<\/li>\n\n\n\n<li>As technology advances, detection precision and the range of detectable disorders are expected to expand<\/li>\n<\/ul>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> can serve as a powerful tool to support decision\u2011making for mothers and providers and may become a new standard in prenatal care.<\/p>\n\n\n\n<p><\/p>\n","protected":false},"excerpt":{"rendered":"1. Introduction 22q1&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-22q11-deletion\/?lang=en\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":122,"featured_media":116101,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[97],"tags":[],"class_list":["post-116110","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\/116110","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=116110"}],"version-history":[{"count":2,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/116110\/revisions"}],"predecessor-version":[{"id":116120,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/116110\/revisions\/116120"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/116101"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=116110"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=116110"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=116110"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}