{"id":26773,"date":"2025-06-24T15:22:14","date_gmt":"2025-06-24T12:22:14","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/analize-fara-categorie\/testare-prenatala-secventiere-cftr-cu-testarea-contaminarii-materne\/"},"modified":"2026-06-16T15:24:42","modified_gmt":"2026-06-16T12:24:42","slug":"testare-prenatala-secventiere-cftr-cu-testarea-contaminarii-materne","status":"publish","type":"product","link":"https:\/\/www.clinica-sante.com\/ro\/analize-genetica-in-sarcina\/testare-prenatala-secventiere-cftr-cu-testarea-contaminarii-materne\/","title":{"rendered":"Testare prenatala &#8211; secventiere CFTR (cu testarea contaminarii materne)"},"content":{"rendered":"<p>Testul presupune secven\u021bierea genei <strong>CFTR (Cystic Fibrosis Transmembrane Conductance Regulator)<\/strong> din ADN fetal ob\u021binut din lichid amniotic sau vilozit\u0103\u021bi coriale, cu evaluarea simultan\u0103 a posibilei contamin\u0103ri cu ADN matern (MCC \u2013 Maternal Cell Contamination).<\/p>\n<p>Fibroza chistic\u0103 este o boal\u0103 genetic\u0103 autosomal recesiv\u0103 sever\u0103, cu afectare multisistemic\u0103, iar diagnosticul prenatal este esen\u021bial \u00een familiile cu risc crescut.<\/p>\n<p>Includerea testului MCC cre\u0219te acurate\u021bea diagnosticului prin eliminarea riscului de interpretare eronat\u0103 a variantelor datorate contamin\u0103rii materne a probei fetale.<\/p>\n<h3>Afec\u021biuni sau riscuri genetice investigate:<\/h3>\n<ul>\n<li>Fibroz\u0103 chistic\u0103 clasic\u0103 (forme severe neonatal\/infantil);<\/li>\n<li>Forme atipice de fibroz\u0103 chistic\u0103;<\/li>\n<li>Status de purt\u0103tor CFTR la f\u0103t;<\/li>\n<li>Risc de boal\u0103 autosomal recesiv\u0103 \u00een familii cu muta\u021bii CFTR cunoscute;<\/li>\n<li>Tulbur\u0103ri de func\u021bie pancreatic\u0103 \u0219i pulmonar\u0103 de origine genetic\u0103.<\/li>\n<\/ul>\n<h3>Cui se adreseaz\u0103:<\/h3>\n<p>Medicilor ginecologi, geneticienilor medicali \u0219i speciali\u0219tilor \u00een medicin\u0103 materno-fetal\u0103 care gestioneaz\u0103 sarcini cu risc genetic pentru fibroz\u0103 chistic\u0103, \u00een special \u00een familii cu ambii p\u0103rin\u021bi purt\u0103tori.<\/p>\n<h3>Metodologie de testare:<\/h3>\n<p>Secven\u021biere complet\u0103 a genei <strong>CFTR<\/strong> prin tehnologie NGS sau metodologii echivalente, aplicat\u0103 pe ADN fetal.<\/p>\n<h3>\u00cen paralel, se realizeaz\u0103:<\/h3>\n<ul>\n<li>testarea contamin\u0103rii materne (MCC) pentru validarea originii ADN-ului fetal<\/li>\n<li>analiza variantelor patogene, probabil patogene \u0219i a variantelor cu semnifica\u021bie incert\u0103 (VUS) din gena CFTR<\/li>\n<\/ul>\n<p>Testul acoper\u0103 \u00eentreaga regiune codant\u0103 \u0219i regiunile intron-exon relevante ale genei CFTR.<\/p>\n<h3>Beneficii \u0219i importan\u021b\u0103 clinic\u0103:<\/h3>\n<ul>\n<li>Permite diagnostic prenatal precis al fibrozei chistice;<\/li>\n<li>Reduce riscul de erori de interpretare prin excluderea contamin\u0103rii materne;<\/li>\n<li>Permite stabilirea statusului genetic fetal \u00een familiile cu risc pentru fibroz\u0103 chistic\u0103;<\/li>\n<li>Ofer\u0103 informa\u021bii esen\u021biale pentru consilierea genetic\u0103 prenatal\u0103;<\/li>\n<li>Contribuie la cre\u0219terea acurate\u021bei diagnosticului molecular fetal;<\/li>\n<li>Sus\u021bine decizii clinice informate \u00een sarcini cu risc genetic.<\/li>\n<\/ul>\n<h3>Particularit\u0103\u021bi \u0219i limit\u0103ri:<\/h3>\n<ul>\n<li>Analizeaz\u0103 exclusiv gena CFTR \u2013 nu detecteaz\u0103 alte boli genetice;<\/li>\n<li>Nu identific\u0103 \u00eentotdeauna variante rare non-codante sau rearanjamente complexe;<\/li>\n<li>Interpretarea poate necesita corelare cu statusul parental;<\/li>\n<li>MCC reduce semnificativ riscul de erori, dar nu elimin\u0103 complet toate limit\u0103rile tehnice;<\/li>\n<li>Rezultatul trebuie integrat \u00een context clinic \u0219i familial.<\/li>\n<\/ul>\n<h3>Tip prob\u0103:<\/h3>\n<ul>\n<li>Lichid amniotic<\/li>\n<li>Vilozit\u0103\u021bi coriale (biopsie de trofoblast)<\/li>\n<\/ul>\n<h3>Recoltare:<\/h3>\n<p>Recoltarea se realizeaz\u0103 prin amniocentez\u0103 sau biopsie de vilozit\u0103\u021bi coriale, \u00een condi\u021bii sterile, de c\u0103tre medic specialist. Proba este transportat\u0103 rapid c\u0103tre laborator pentru analiz\u0103 genetic\u0103<\/p>\n<h3>Condi\u021bii:<\/h3>\n<p>Calitatea ADN-ului fetal este esen\u021bial\u0103. Testarea contamin\u0103rii materne este obligatorie pentru validarea originii genetice a probei \u0219i cre\u0219terea acurate\u021bei diagnosticului.<\/p>\n<h3>Denumiri alternative:<\/h3>\n<p>Secven\u021biere CFTR prenatal cu MCC; Test prenatal fibroz\u0103 chistic\u0103 complet (cu control contaminare matern\u0103); Analiz\u0103 genetic\u0103 fetal\u0103 CFTR cu validare MCC; Diagnostic prenatal CFTR cu excludere contaminare matern\u0103.<\/p>\n<h3>Analize asociate recomandate:<\/h3>\n<ul>\n<li>Testare genetic\u0103 parental\u0103 CFTR (carrier screening);<\/li>\n<li>Panel NGS prenatal extins pentru boli monogenice;<\/li>\n<li>Microarray genomic prenatal (CentoArray Cyto);<\/li>\n<li>Cariotip fetal pentru anomalii cromozomiale majore;<\/li>\n<li>Testare muta\u021bii \u021bintite CFTR dac\u0103 exist\u0103 variant\u0103 familial\u0103 cunoscut\u0103;<\/li>\n<li>Consiliere genetic\u0103 prenatal\u0103 \u00eenainte \u0219i dup\u0103 testare pentru interpretare complet\u0103.<\/li>\n<\/ul>\n","protected":false},"excerpt":{"rendered":"<p>Analiz\u0103 genetic\u0103 prenatal\u0103 complet\u0103 a genei <strong>CFTR<\/strong>, realizat\u0103 prin secven\u021biere, cu includerea obligatorie a test\u0103rii contamin\u0103rii materne (MCC), destinat\u0103 diagnosticului precis al fibrozei chistice la f\u0103t.<\/p>\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":["post-26773","product","type-product","status-publish","product_cat-analize","product_cat-genetica-in-sarcina","product_cat-serviciu-laborator","first","instock","sale","virtual","purchasable","product-type-simple"],"acf":[],"aioseo_notices":[],"aioseo_head":"\n\t\t<!-- All in One SEO Pro 4.9.10 - aioseo.com -->\n\t<meta name=\"description\" content=\"Analiz\u0103 genetic\u0103 prenatal\u0103 complet\u0103 a genei CFTR, realizat\u0103 prin 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