{"id":27173,"date":"2025-06-24T14:46:22","date_gmt":"2025-06-24T12:46:22","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/analize-fara-categorie\/test-panorama-cu-22q11-2-sindrom-digeorge\/"},"modified":"2026-02-27T17:58:52","modified_gmt":"2026-02-27T15:58:52","slug":"test-panorama-cu-22q11-2-sindrom-digeorge","status":"publish","type":"product","link":"https:\/\/www.clinica-sante.com\/ro\/analize-genetica-in-sarcina\/test-panorama-cu-22q11-2-sindrom-digeorge\/","title":{"rendered":"Test Panorama cu 22q11.2 (sindrom diGeorge)"},"content":{"rendered":"<p><strong>Test Panorama cu 22q11.2 (sindrom DiGeorge)<\/strong> utilizeaz\u0103 tehnologia unic\u0103 SNP-based NIPT (Single Nucleotide Polymorphism), care distinge ADN-ul fetal de cel matern \u0219i permite detectarea precis\u0103 a anomaliilor cromozomiale \u0219i microdele\u021biilor.<\/p>\n<\/p>\n<p>Este un test complet non-invaziv, realizat dintr-o prob\u0103 simpl\u0103 de s\u00e2nge matern, f\u0103r\u0103 riscuri pentru f\u0103t, validat clinic prin studiul SMART, cel mai amplu studiu multicentric pentru evaluarea performan\u021bei testelor NIPT bazate pe SNP-uri.<\/p>\n<\/p>\n<p><strong>Afec\u021biuni sau simptome asociate<\/strong><\/p>\n<\/p>\n<ul>\n<li>Trisomia 21 (sindromul Down)<\/li>\n<li>Trisomia 18 (sindromul Edwards)<\/li>\n<li>Trisomia 13 (sindromul Patau)<\/li>\n<li>Aneuploidii <strong>ale<\/strong> cromozomilor X\/Y (Turner, Klinefelter, XXX, XYY)<\/li>\n<li>Sindromul DiGeorge (dele\u021bia 22q11.2), asociat cu:\n<ul>\n<li>defecte cardiace congenitale<\/li>\n<li>hipocalcemie neonatal\u0103<\/li>\n<li>imunitate sc\u0103zut\u0103<\/li>\n<li>\u00eent\u00e2rziere de dezvoltare \u0219i anomalii craniofaciale<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<\/p>\n<p><strong>Cui se adreseaz\u0103<\/strong><\/p>\n<\/p>\n<ul>\n<li>Femeilor \u00eens\u0103rcinate care doresc o evaluare extins\u0103 a riscului genetic fetal<\/li>\n<li>Pacientelor cu anomalii ecografice sau istoric familial de malforma\u021bii congenitale<\/li>\n<li>Femeilor cu v\u00e2rst\u0103 matern\u0103 peste <strong>35 de ani<\/strong><\/li>\n<li>Sarcini ob\u021binute natural sau prin FIV<\/li>\n<li>Pacientelor care doresc detectarea precoce a sindromului DiGeorge f\u0103r\u0103 proceduri invazive<\/li>\n<\/ul>\n<p><strong>Metodologie de testare<\/strong><\/p>\n<\/p>\n<ul>\n<li>Extrac\u021bia ADN-ului liber circulant din <strong>plasma<\/strong> matern\u0103<\/li>\n<li>Analiza SNP-urilor \u0219i evaluarea raportului de copii cromozomiali<\/li>\n<li>Algoritm bioinformatic avansat pentru identificarea aneuploidiilor \u0219i microdele\u021biilor<\/li>\n<li>Tehnologie validat\u0103 clinic \u00een studiul SMART (Natera, 2022)<\/li>\n<\/ul>\n<p><strong>Beneficii \u0219i importan\u021b\u0103 clinic\u0103<\/strong><\/p>\n<\/p>\n<ul>\n<li>Test sigur \u0219i complet non-invaziv<\/li>\n<li>Detecteaz\u0103 cele mai frecvente aneuploidii \u0219i sindromul DiGeorge<\/li>\n<li>Rat\u0103 de detec\u021bie superioar\u0103 \u0219i fals-pozitive minime (comparativ cu testele bazate pe num\u0103rarea fragmentelor <strong>de<\/strong> ADN)<\/li>\n<li>Permite evitarea procedurilor invazive inutile<\/li>\n<li>Ofer\u0103 informa\u021bii esen\u021biale pentru consiliere genetic\u0103 prenatal\u0103 \u0219i planificarea sarcinii<\/li>\n<\/ul>\n<p><strong>Particularit\u0103\u021bi \u0219i limit\u0103ri<\/strong><\/p>\n<\/p>\n<ul>\n<li>Este un test de screening, nu un test diagnostic \u2013 rezultatele cu risc crescut necesit\u0103 confirmare prin cariotipare fetal\u0103, FISH sau <strong>arrayCGH<\/strong><\/li>\n<li>Nu detecteaz\u0103 toate microdele\u021biile rare sau muta\u021biile punctiforme<\/li>\n<li>Se poate efectua din s\u0103pt\u0103m\u00e2na 9 de sarcin\u0103<\/li>\n<li>\u00cen caz de frac\u021bie fetal\u0103 sc\u0103zut\u0103, poate fi necesar\u0103 repetarea testului f\u0103r\u0103 cost suplimentar<\/li>\n<li>Nu este recomandat pentru sarcini gemelare multiple (&gt;2 fe\u021bi)<\/li>\n<\/ul>\n<p><strong>Analize asociate recomandate<\/strong><\/p>\n<\/p>\n<ul>\n<li>Ecografie morfologic\u0103 fetal\u0103 (trim. I \u0219i II)<\/li>\n<li>Panorama Complete (T3) pentru microdele\u021bii suplimentare rare<\/li>\n<li>Confirmare prin amniocentez\u0103 \u0219i <strong>arrayCGH<\/strong> \u00een caz de rezultat cu risc crescut<\/li>\n<li>Consult genetic prenatal pentru interpretarea complet\u0103 a rezultatelor<\/li>\n<\/ul><\/p>\n","protected":false},"excerpt":{"rendered":"<p><strong>Test Panorama cu 22q11.2 (sindrom DiGeorge)<\/strong> este un test prenatal non-invaziv (NIPT) bazat pe analiza ADN-ului fetal liber circulant \u00een s\u00e2ngele matern. Pe l\u00e2ng\u0103 aneuploidiile cromozomiale majore (trisomiile 21, 18, 13 <strong>\u0219i<\/strong> anomaliile cromozomilor sexuali), testul include \u0219i evaluarea microdele\u021biei 22q11.2 (sindromul DiGeorge) \u2013 cea mai frecvent\u0103 microdele\u021bie asociat\u0103 cu malforma\u021bii congenitale \u0219i \u00eent\u00e2rziere de dezvoltare.<\/p>\n<\/p>\n<p><strong>Gene analizate<\/strong><\/p>\n<\/p>\n<p>Testul nu vizeaz\u0103 gene individuale, ci regiuni cromozomiale specifice:<\/p>\n<\/p>\n<ul>\n<li>Trisomia 21 (sindromul Down)<\/li>\n<li>Trisomia 18 (sindromul Edwards)<\/li>\n<li>Trisomia 13 (sindromul Patau)<\/li>\n<li>Aneuploidii ale cromozomilor X \u0219i Y (Turner, Klinefelter, XXX, XYY)<\/li>\n<li>Microdele\u021bia 22q11.2 (sindromul DiGeorge)<\/li>\n<\/ul>\n","protected":false},"featured_media":0,"template":"","meta":{"_acf_changed":false,"inline_featured_image":false},"product_brand":[],"product_cat":[1209,3173,2876],"product_tag":[],"class_list":{"0":"post-27173","1":"product","2":"type-product","3":"status-publish","5":"product_cat-analize","6":"product_cat-genetica-in-sarcina","7":"product_cat-serviciu-laborator","8":"pa_genetica-genetica-in-sarcina","10":"first","11":"instock","12":"sale","13":"virtual","14":"purchasable","15":"product-type-simple"},"acf":[],"aioseo_notices":[],"_links":{"self":[{"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product\/27173","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product"}],"about":[{"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/types\/product"}],"wp:attachment":[{"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/media?parent=27173"}],"wp:term":[{"taxonomy":"product_brand","embeddable":true,"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product_brand?post=27173"},{"taxonomy":"product_cat","embeddable":true,"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product_cat?post=27173"},{"taxonomy":"product_tag","embeddable":true,"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product_tag?post=27173"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}