{"id":26765,"date":"2025-06-24T15:21:46","date_gmt":"2025-06-24T12:21:46","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/analize-fara-categorie\/sangene-nipt-extended-sarcina-gemelara\/"},"modified":"2026-03-31T10:36:05","modified_gmt":"2026-03-31T07:36:05","slug":"sangene-nipt-extended-sarcina-gemelara","status":"publish","type":"product","link":"https:\/\/www.clinica-sante.com\/ro\/analize-genetica-in-sarcina\/sangene-nipt-extended-sarcina-gemelara\/","title":{"rendered":"SanGene NIPT Extended include CNV (sarcina gemelara)"},"content":{"rendered":"<p><strong>SanGene NIPT Extended \u2013 include CNV (sarcin\u0103 unic\u0103 sau gemelar\u0103) <\/strong>\u2013 este un test non-invaziv care nu implic\u0103 riscuri pentru mam\u0103 sau f\u0103t, realizat prin recoltarea unei probe de s\u00e2nge matern. SanGene NIPT Extended poate fi efectuat \u00eencep\u00e2nd cu s\u0103pt\u0103m\u00e2na a 10-a de sarcin\u0103 \u0219i ofer\u0103 informa\u021bii importante pentru managementul ulterior al sarcinii.<\/p>\n<\/p>\n<p> De\u0219i SanGene NIPT Extended \u2013 include CNV (sarcin\u0103 unic\u0103 sau gemelar\u0103) nu este un test de diagnostic \u0219i rezultatele pozitive necesit\u0103 confirmare prin amniocentez\u0103 sau biopsie de vilozit\u0103\u021bi coriale, acesta permite screeningul extins, cu acurate\u021be ridicat\u0103, pentru o gam\u0103 larg\u0103 de afec\u021biuni genetice cu impact clinic.<\/p>\n<\/p>\n<p>Proba de s\u00e2nge poate fi recoltat\u0103 \u00een orice moment al zilei, f\u0103r\u0103 a fi necesar postul alimentar.<\/p>\n<\/p>\n<p>Societ\u0103\u021bi interna\u021bionale, precum Colegiul American al Obstetricienilor \u0219i Ginecologilor (ACOG), afirm\u0103 c\u0103 toate femeile \u00eens\u0103rcinate ar trebui s\u0103 fie informate despre op\u021biunile de screening NIPT pentru aneuploidii comune.Afec\u021biunile genetice incluse \u00een panelul de testare:<\/p>\n<\/p>\n<p><strong style=\"color: #ff9900\">1. Aneuploidii comune<\/strong><\/p>\n<\/p>\n<p><strong>Trisomia 13 (Sindromul Patau)<\/strong><\/p>\n<\/p>\n<p><strong>Manifest\u0103ri clinice:<\/strong><\/p>\n<\/p>\n<ul>\n<li>retard mintal sever;<\/li>\n<li>microcefalie, holoprozencefalie (malforma\u021bii cerebrale);<\/li>\n<li>fante palatine \u0219i buz\u0103 despicat\u0103;<\/li>\n<li>polidactilie (degete suplimentare);<\/li>\n<li>malforma\u021bii cardiace \u0219i renale;<\/li>\n<li>supravie\u021buire redus\u0103 (majoritatea deceselor survin \u00een primul an de via\u021b\u0103).<\/li>\n<\/ul>\n<p><strong>Trisomia 18 (Sindromul Edwards)<\/strong><\/p>\n<\/p>\n<p><strong>Manifest\u0103ri clinice:<\/strong><\/p>\n<\/p>\n<ul>\n<li>retard mintal sever;<\/li>\n<li>cre\u0219tere intrauterin\u0103 \u00eent\u00e2rziat\u0103;<\/li>\n<li>craniu mic, occiput proeminent;<\/li>\n<li>urechi jos inserate, mandibul\u0103 mic\u0103;<\/li>\n<li>pozi\u021bie caracteristic\u0103 a m\u00e2inilor (pumn str\u00e2ns, degete suprapuse);<\/li>\n<li>malforma\u021bii cardiace, renale;<\/li>\n<li>speran\u021b\u0103 de via\u021b\u0103 foarte limitat\u0103.<\/li>\n<\/ul>\n<p><strong>Trisomia 21 (Sindromul Down)<\/strong><\/p>\n<\/p>\n<p><strong>Manifest\u0103ri clinice:<\/strong><\/p>\n<\/p>\n<ul>\n<li>retard mintal variabil;<\/li>\n<li>facies tipic: profil plat, epicantus, limb\u0103 mare;<\/li>\n<li>hipotonie neonatal\u0103;<\/li>\n<li>plis palmar unic;<\/li>\n<li>malforma\u021bii cardiace (defect septal atrioventricular frecvent);<\/li>\n<li>risc crescut de leucemii \u0219i boal\u0103 Alzheimer precoce.<\/li>\n<\/ul>\n<p><strong style=\"color: #ff9900\">2. Aneuploidii ale cromozomilor sexuali<\/strong><\/p>\n<\/p>\n<p><strong>Sindromul Turner (45, X)<\/strong><\/p>\n<\/p>\n<p><strong>Manifest\u0103ri clinice:<\/strong><\/p>\n<\/p>\n<ul>\n<li>statur\u0103 mic\u0103;<\/li>\n<li>g\u00e2t \u201ecu aripioare\u201d (pterygium colli);<\/li>\n<li>linia p\u0103rului joas\u0103;<\/li>\n<li>disgenezie gonadal\u0103 \u2192 infertilitate;<\/li>\n<li>malforma\u021bii cardiace (coarcta\u021bie de aort\u0103);<\/li>\n<li>inteligen\u021b\u0103 normal\u0103 de obicei.<\/li>\n<li><\/li>\n<\/ul>\n<p><strong>Sindromul Klinefelter (47, XXY)<\/strong><\/p>\n<\/p>\n<p><strong>Manifest\u0103ri clinice:<\/strong><\/p>\n<\/p>\n<ul>\n<li>\u00een\u0103l\u021bime peste medie;<\/li>\n<li>ginecomastie;<\/li>\n<li>testicule mici, infertilitate (azoospermie);<\/li>\n<li>hipogonadism hipergonadotrop;<\/li>\n<li>inteligen\u021b\u0103 u\u0219or redus\u0103, dificult\u0103\u021bi de \u00eenv\u0103\u021bare.<\/li>\n<\/ul>\n<p><strong>Sindromul Triple X (47, XXX)<\/strong><\/p>\n<\/p>\n<p><strong>Manifest\u0103ri clinice:<\/strong><\/p>\n<\/p>\n<ul>\n<li>de obicei asimptomatic;<\/li>\n<li>poate ap\u0103rea statur\u0103 u\u0219or peste medie;<\/li>\n<li>uneori dificult\u0103\u021bi de \u00eenv\u0103\u021bare \u0219i tulbur\u0103ri de limbaj;<\/li>\n<li>fertilitate de obicei normal\u0103.<\/li>\n<\/ul>\n<p><strong>Sindromul Jacobs (47, XYY)<\/strong><\/p>\n<\/p>\n<p><strong>Manifest\u0103ri clinice:<\/strong><\/p>\n<\/p>\n<ul>\n<li>\u00een\u0103l\u021bime peste medie;<\/li>\n<li>acne sever\u0103 \u00een adolescen\u021b\u0103;<\/li>\n<li>tulbur\u0103ri de comportament, impulsivitate;<\/li>\n<li>fertilitate de obicei normal\u0103;<\/li>\n<li>inteligen\u021b\u0103 normal\u0103 sau u\u0219or sc\u0103zut\u0103.<\/li>\n<\/ul>\n<p><strong style=\"color: #ff9900\">3. CNV-uri (dele\u021bii\/duplica\u021bii mari &gt;7 Mb)<\/strong><\/p>\n<\/p>\n<p><strong>Manifest\u0103ri clinice:<\/strong><\/p>\n<\/p>\n<ul>\n<li>Simptomele sunt variabile \u00een func\u021bie de regiunea afectat\u0103.<\/li>\n<li>De obicei includ: retard de dezvoltare, anomalii craniofaciale, malforma\u021bii de organ.<\/li>\n<\/ul>\n<p><strong>Cui se adreseaz\u0103 analiza:<\/strong><\/p>\n<\/p>\n<ul>\n<li>at\u00e2t sarcinilor cu un singur f\u0103t, c\u00e2t \u0219i sarcinilor gemelare;<\/li>\n<li>femeilor\u00eens\u0103rcinate de orice v\u00e2rst\u0103, \u00een special celor peste 35 de ani;<\/li>\n<li>cuplurilor cu antecedente de anomalii genetice \u00een familie;<\/li>\n<li>femeilor care au avut rezultate anormale la alte teste de screening prenatal (dublu\/triplu test, morfologie fetal\u0103 etc.);<\/li>\n<li>sarcinilor ob\u021binute prin FIV, inclusiv sarcinilor cu ovocite donate sau mama surogat.<\/li>\n<\/ul>\n<p><strong>Metodologie de testare<\/strong><\/p>\n<\/p>\n<p><strong>SanGene NIPT Extended<\/strong> utilizeaz\u0103 secven\u021biere NGS <em>paired-end<\/em>, cu acoperire de \u00eentreg genom (whole-genome sequencing), pentru analiza ADN-ului fetal liber circulant din s\u00e2ngele matern.<\/p>\n<\/p>\n<p><strong>Beneficii \u0219i importan\u021b\u0103 clinic\u0103<\/strong><\/p>\n<\/p>\n<ul>\n<li>NGS <em>paired-end<\/em> permite diferen\u021bierea \u00eentre ADN-ul fetal liber circulant \u0219i ADN-ul matern, \u00eembun\u0103t\u0103\u021bind evaluarea frac\u021biei fetale \u0219i performan\u021ba testului.<\/li>\n<li>Comparativ cu metodele NIPT \u021bintite, tehnica ofer\u0103 mai multe informa\u021bii \u00eentr-un timp mai scurt \u0219i elimin\u0103 posibile surse de eroare care pot ap\u0103rea \u00een secven\u021bierea \u021bintit\u0103 sau \u00een analiza microarray.<\/li>\n<li>Testul are specificitate \u0219i sensibilitate crescute (peste 99% pentru aneuploidiile comune), reduc\u00e2nd num\u0103rul rezultatelor fals pozitive \u0219i evit\u00e2nd proceduri invazive inutile.<\/li>\n<li>Secven\u021bierea \u00eentregului genom permite detectarea unei game largi de anomalii cromozomiale.<\/li>\n<\/ul>\n<p class=\"ql-align-justify\"><strong>Particularit\u0103\u021bi \u0219i limit\u0103ri<\/strong><\/p>\n<p class=\"ql-align-justify\">\n<ul>\n<li>Testul poate fi efectuat at\u00e2t pentru sarcinile unice c\u00e2t \u0219i pentru cele gemelare, ob\u021binute natural, dar \u0219i pentru sarcinile ob\u021binute prin FIV sau cu ovocite donate.<\/li>\n<li>Testul poate fi efectuat doar \u00eencep\u00e2nd cu s\u0103pt\u0103m\u00e2na a 10-a de sarcin\u0103.<\/li>\n<li>Testul nu poate fi efectuat pentru sarcinile cu mai mult de doi fe\u021bi.<\/li>\n<li>Testul este destinat screeningului, iar rezultatele pozitive necesit\u0103 confirmare printr-un test de diagnostic.<\/li>\n<\/ul>\n<p><strong>Tip prob\u0103:<\/strong> s\u00e2nge total recoltat \u00een recipient special: Vacutainer Streck 1\u00d710 mL;<\/p>\n<\/p>\n<p><strong>Recoltare \u0219i condi\u021bii:<\/strong><\/p>\n<\/p>\n<ul>\n<li>s\u00e2nge total recoltat \u00een recipient special: Vacutainer Streck 1 \u00d7 10 mL;<\/li>\n<li>proba poate fi recoltat\u0103 \u00een orice moment al zilei;<\/li>\n<li>nu este necesar postul alimentar \u00eenainte de recoltare;<\/li>\n<li>\u00een cazul unei transfuzii de s\u00e2nge se recomand\u0103 un interval de minim 4 s\u0103pt\u0103m\u00e2ni (ideal 8 s\u0103pt\u0103m\u00e2ni) \u00eenainte de recoltare.<\/li>\n<\/ul>\n<p><strong>Analize asociate recomandate:<\/strong><\/p>\n<ul>\n<li>Screening status de purt\u0103tor \u2013 420 gene \u2013 Carrier Screening 420 genes \u2013 for patients<\/li>\n<li>Carrier Screening Avansat bazat pe Exom (cu analiza a 2423 gene)<\/li>\n<li>Screening status de purt\u0103tor pentru muta\u021biile CFTR F508del (fibroza chistic\u0103) \u0219i GJB2 35delG (surditate genetic\u0103)<\/li>\n<li>Detec\u021bie muta\u021bie GJB2 35delG (surditate genetic\u0103)<\/li>\n<li>Detec\u021bie muta\u021bie F508del (fibroza chistic\u0103)<\/li>\n<li>dublu test (determinare parametri biochimici free \u03b2-hCG \u0219i PAPP-A, Kryptor)<\/li>\n<li>dublu test (screening prenatal trimestrul I, 11\u201313 s\u0103pt\u0103m\u00e2ni \u0219i 6 zile)<\/li>\n<li>DRY TEST trimestrul I de sarcin\u0103 (bitest PRISCA \u0219i screening genetic al gravidei pentru muta\u021biile CFTR F508del \u0219i GJB2 35delG)<\/li>\n<li>evaluare risc preeclampsie (PAPP-A\/PlGF) (11\u201313.6 s\u0103pt\u0103m\u00e2ni)<\/li>\n<\/ul>\n<p>Pentru interpretarea rezultatelor de genetic\u0103, v\u0103 pute\u021bi adresa speciali\u0219tilor no\u0219tri. Ei v\u0103 pot ghida \u0219i v\u0103 pot oferi informa\u021bii suplimentare despre testele genetice din oferta noastr\u0103. Consultul genetic se poate programa at\u00e2t \u00eenainte, c\u00e2t \u0219i dup\u0103 efectuarea testului. Acesta din urm\u0103 este<strong> GRATUIT<\/strong> \u0219i este destinat interpret\u0103rii rezultatelor \u0219i stabilirii indica\u021biilor terapeutice.<\/p>\n<\/p>\n<p><strong>E-mail: <a href=\"mailto:consult.genetic@clinica-sante.ro\" rel=\"noopener noreferrer\" target=\"_blank\">consult.genetic@clinica-sante.ro<\/a><\/strong><\/p>\n<\/p>\n<p><strong>Telefon: 0773.975.894<\/strong><\/p>\n<\/p>\n<p><strong>Program: Luni\u2013Vineri<\/strong><\/p>\n<\/p>\n<p><strong>Orele: 8:00\u201316:30<\/strong><\/p>\n<\/p>\n<p><strong>Call Center: *8787<\/strong><\/p>\n<\/p>\n<\/p>\n<p class=\"ql-align-justify\"><\/p>\n","protected":false},"excerpt":{"rendered":"<p><strong>SanGene NIPT Extended \u2013 include CNV (sarcin\u0103 unic\u0103 sau gemelar\u0103)<\/strong> \u2013 este un test de screening prenatal non-invaziv care detecteaz\u0103 posibile anomalii genetice ale f\u0103tului, \u00eencep\u00e2nd cu s\u0103pt\u0103m\u00e2na a 10-a de sarcin\u0103, prin analiza ADN-ului fetal liber circulant din s\u00e2ngele matern.<\/p>\n<\/p>\n<p><strong>\u00cen cadrul acestui panel se efectueaz\u0103 screening pentru:<\/strong><\/p>\n<\/p>\n<ul>\n<li>Aneuplodiile comune: trisomia 13 (sindromul Patau), trisomia 18 (sindromul Edwards) \u0219i trisomia 21 (sindromul Down).<\/li>\n<li>Determinarea sexului fetal (prin detectarea prezen\u021bei cromozomului Y).<\/li>\n<li>Aneuploidii ale cromozomilor sexuali: sindromul Turner (45,X), sindromul Klinefelter (47,XXY), sindromul Triple X (47,XXX) \u0219i sindromul Jacobs (47,XYY).<\/li>\n<li>Dele\u021bii \u0219i duplica\u021bii par\u021biale mai mari de 7 Mb (CNV-uri), inclusiv sindroamele genetice cauzate de microdele\u021bii (por\u021biuni lips\u0103) sau microduplica\u021bii (por\u021biuni suplimentare) ale materialului genetic.<\/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-26765","1":"product","2":"type-product","3":"status-publish","5":"product_cat-analize","6":"product_cat-genetica-in-sarcina","7":"product_cat-serviciu-laborator","9":"first","10":"instock","11":"sale","12":"virtual","13":"purchasable","14":"product-type-simple"},"acf":[],"aioseo_notices":[],"_links":{"self":[{"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product\/26765","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=26765"}],"wp:term":[{"taxonomy":"product_brand","embeddable":true,"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product_brand?post=26765"},{"taxonomy":"product_cat","embeddable":true,"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product_cat?post=26765"},{"taxonomy":"product_tag","embeddable":true,"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product_tag?post=26765"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}