{"id":27552,"date":"2025-06-24T15:42:05","date_gmt":"2025-06-24T13:42:05","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/analize-fara-categorie\/test-panorama-cu-microdeletii\/"},"modified":"2026-02-27T18:06:34","modified_gmt":"2026-02-27T16:06:34","slug":"test-panorama-cu-microdeletii","status":"publish","type":"product","link":"https:\/\/www.clinica-sante.com\/ro\/analize-genetica-in-sarcina\/test-panorama-cu-microdeletii\/","title":{"rendered":"Test Panorama cu microdeletii"},"content":{"rendered":"<p><strong>Panorama cu microdele\u021bii<\/strong> utilizeaz\u0103 tehnologia unic\u0103 SNP-based NIPT (Single Nucleotide Polymorphism), dezvoltat\u0103 de Natera, care permite o analiz\u0103 diferen\u021biat\u0103 a ADN-ului matern \u0219i fetal, oferind o precizie superioar\u0103 \u00een detec\u021bia aneuploidiilor \u0219i microdele\u021biilor fa\u021b\u0103 de testele NIPT bazate pe num\u0103rarea fragmentelor de ADN.<\/p>\n<\/p>\n<p>Testul este complet non-invaziv, realizat dintr-o prob\u0103 simpl\u0103 de s\u00e2nge matern, f\u0103r\u0103 riscuri pentru f\u0103t, \u0219i este validat clinic prin studiul SMART, cel mai amplu studiu multicentric dedicat testelor prenatale bazate pe SNP-uri.<\/p>\n<\/p>\n<p><strong>Afec\u021biuni sau simptome asociate<\/strong><\/p>\n<\/p>\n<ul>\n<li>Aneuploidii fetale frecvente (Down, Edwards, Patau)<\/li>\n<li>Anomalii cromozomiale sexuale<\/li>\n<li>Microdele\u021bii asociate cu:\n<ul>\n<li>malforma\u021bii cardiace congenitale<\/li>\n<li>\u00eent\u00e2rziere de dezvoltare psihomotorie<\/li>\n<li>hipotonie, tulbur\u0103ri de cre\u0219tere<\/li>\n<li>tr\u0103s\u0103turi craniofaciale atipice<\/li>\n<li>tulbur\u0103ri imune \u0219i endocrinologice<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p><strong>Cui se adreseaz\u0103<\/strong><\/p>\n<\/p>\n<ul>\n<li>Femeilor \u00eens\u0103rcinate care doresc o evaluare genetic\u0103 extins\u0103 a f\u0103tului<\/li>\n<li>Pacientelor cu anomalii ecografice fetale sau istoric familial de boli genetice<\/li>\n<li>Femeilor cu v\u00e2rst\u0103 matern\u0103 peste 35 de ani<\/li>\n<li>Sarcini unice ob\u021binute natural sau prin FIV<\/li>\n<li>Gravide care doresc detec\u021bia microdele\u021biilor rare f\u0103r\u0103 riscul procedurilor 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 plasma matern\u0103<\/li>\n<li>Analiza polimorfismelor unice de tip SNP pentru diferen\u021bierea ADN-ului fetal de cel matern<\/li>\n<li>Algoritm bioinformatic proprietar pentru identificarea aneuploidiilor \u0219i microdele\u021biilor<\/li>\n<li>Validare clinic\u0103 extins\u0103 prin 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 complet non-invaziv, sigur pentru mam\u0103 \u0219i f\u0103t<\/li>\n<li>Detecteaz\u0103 cele mai frecvente aneuploidii \u0219i microdele\u021bii rare<\/li>\n<li>Rat\u0103 superioar\u0103 de detec\u021bie fa\u021b\u0103 de testele standard NIPT bazate pe fragment count<\/li>\n<li>Rat\u0103 foarte sc\u0103zut\u0103 de rezultate fals pozitive<\/li>\n<li>Permite identificarea precoce a riscului genetic, contribuind la consilierea prenatal\u0103 \u0219i la planificarea optim\u0103 a 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 trebuie confirmate prin amniocentez\u0103 \u0219i testare citogenetic\u0103 (FISH, arrayCGH)<\/li>\n<li>Nu detecteaz\u0103 toate microdele\u021biile rare sau muta\u021biile genice punctiforme<\/li>\n<li>Se efectueaz\u0103 din s\u0103pt\u0103m\u00e2na 9 de sarcin\u0103<\/li>\n<li>\u00cen caz de frac\u021bie fetal\u0103 sc\u0103zut\u0103**,** se recomand\u0103 repetarea probei f\u0103r\u0103 cost suplimentar<\/li>\n<li>Nu se recomand\u0103 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>Confirmare prin amniocentez\u0103 \u0219i arrayCGH \u00een caz de rezultat pozitiv<\/li>\n<li>Consult genetic prenatal pentru interpretarea detaliat\u0103 a rezultatului<\/li>\n<\/ul><\/p>\n","protected":false},"excerpt":{"rendered":"<p><strong>Panorama cu microdele\u021bii <\/strong>este cea mai extins\u0103 variant\u0103 a testului prenatal non-invaziv (NIPT) Panorama, bazat pe analiza ADN-ului fetal liber circulant \u00een s\u00e2ngele matern.<\/p>\n<\/p>\n<p>Pe l\u00e2ng\u0103 aneuploidiile cromozomiale majore (trisomiile 21, 18, 13) \u0219i anomaliile cromozomilor sexuali, testul evalueaz\u0103 cele mai frecvente microdele\u021bii implicate \u00een malforma\u021bii congenitale, \u00eent\u00e2rziere de dezvoltare \u0219i tulbur\u0103ri genetice rare, inclusiv sindromul DiGeorge (22q11.2).<\/p>\n<\/p>\n<p><strong>Regiuni \u0219i sindroame evaluate<\/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 ale cromozomilor X \u0219i Y (Turner, Klinefelter, XXX, XYY)<\/li>\n<li>Microdele\u021bii incluse:\n<ul>\n<li>22q11.2 \u2013 sindromul DiGeorge<\/li>\n<li>1p36 \u2013 sindromul dele\u021biei 1p36<\/li>\n<li>Prader-Willi \/ Angelman \u2013 dele\u021bie 15q11-q13<\/li>\n<li>Cri-du-Chat \u2013 dele\u021bie 5p<\/li>\n<li>Wolf-Hirschhorn \u2013 dele\u021bie 4p16.3<\/li>\n<\/ul>\n<\/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-27552","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\/27552","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=27552"}],"wp:term":[{"taxonomy":"product_brand","embeddable":true,"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product_brand?post=27552"},{"taxonomy":"product_cat","embeddable":true,"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product_cat?post=27552"},{"taxonomy":"product_tag","embeddable":true,"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product_tag?post=27552"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}