{"id":26929,"date":"2025-06-24T15:32:05","date_gmt":"2025-06-24T12:32:05","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/analize-fara-categorie\/sangene-nipt-genome-screen-sarcina-gemelara\/"},"modified":"2026-03-31T23:34:42","modified_gmt":"2026-03-31T20:34:42","slug":"sangene-nipt-genome-screen-sarcina-gemelara","status":"publish","type":"product","link":"https:\/\/www.clinica-sante.com\/ro\/analize-genetica-in-sarcina\/sangene-nipt-genome-screen-sarcina-gemelara\/","title":{"rendered":"SanGene NIPT Genome Screen include CNV+ aneuploidii rare (sarcina gemelara)"},"content":{"rendered":"<p><strong>SanGene NIPT Genome Screen <\/strong>\u2013 include CNV + aneuploidii rare (sarcin\u0103 unic\u0103 sau gemelar\u0103) este \u00a0un test non-invaziv, care nu prezint\u0103 riscuri pentru mam\u0103 sau f\u0103t, fiind efectuat printr-o simpl\u0103 recoltare de s\u00e2nge matern. SanGene NIPT poate fi efectuat \u00eenc\u0103 din s\u0103pt\u0103m\u00e2na a 10-a de sarcin\u0103, oferind precoce informa\u021bii importante pentru managementul ulterior al sarcinii.<\/p>\n<\/p>\n<p>De\u0219i \u00a0SanGene NIPT Genome Screen \u2013 include CNV + aneuploidii rare (sarcin\u0103 unic\u0103 sau gemelar\u0103) \u2013 nu este un test de diagnostic, \u0219i rezultatele pozitive necesit\u0103 confirmarea cu teste de diagnostic din lichid amniotic sau din vilozit\u0103\u021bi coriale, acesta permite screeningul extins, cu acurate\u021be ridicat\u0103, pentru o serie extins\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.<\/p>\n<\/p>\n<p><strong>Afec\u021biunile genetice incluse \u00een panelul de testare:<\/strong><\/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 \u0219i 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>pliu 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 ( determinare doar pentru sarcinile unice)<\/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, de obicei, normal\u0103.<\/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 o statur\u0103 u\u0219or peste medie;<\/li>\n<li>uneori pot ap\u0103rea 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>acnee 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 \u00a0&gt;7 Mb)<\/strong><\/p>\n<\/p>\n<p><strong>Manifest\u0103ri clinice:<\/strong><\/p>\n<\/p>\n<ul>\n<li>Simptome 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 style=\"color: #ff9900\">4. Aneuploidii autozomale rare (anomalii numerice ale altor cromozomi autozomali \u2013nu doar 13, 18 \u0219i 21):<\/strong><\/p>\n<\/p>\n<p><strong>Trisomia 8 (sindromul Warkany 2)\u00a0<\/strong>\u00a0<\/p>\n<\/p>\n<p>Adesea apare ca mozaicism (trisomia complet\u0103 este letal\u0103).<\/p>\n<\/p>\n<p>\u00a0<strong>Manifest\u0103ri clinice:<\/strong><\/p>\n<\/p>\n<ul>\n<li>retard de cre\u0219tere pre \u0219i postnatal;<\/li>\n<li>facies dismorf: frunte lat\u0103, urechi mari, mandibul\u0103 proeminent\u0103;<\/li>\n<li>anomalii scheletice (degete lungi, contracturi articulare, scolioz\u0103);<\/li>\n<li><span style=\"color: black\">malforma\u021bii cardiace \u0219i renale;<\/span><\/li>\n<li><span style=\"color: black\">r<\/span>isc crescut de leucemie mieloid\u0103.<\/li>\n<\/ul>\n<p><strong>Trisomia 9<\/strong><\/p>\n<\/p>\n<p><strong>\u00a0<\/strong>Forma complet\u0103 este letal\u0103 \u00een perioada neonatal\u0103; mozaicism \u2192 supravie\u021buire mai lung\u0103.<\/p>\n<\/p>\n<p><strong>Manifest\u0103ri clinice:<\/strong><\/p>\n<\/p>\n<ul>\n<li>retard sever de cre\u0219tere;<\/li>\n<li>microcefalie, occiput proeminent;<\/li>\n<li>palatoschizis, microgna\u021bie;<\/li>\n<li>malforma\u021bii cardiace, renale \u0219i musculo-scheletice;<\/li>\n<li>deficite cognitive severe.<\/li>\n<\/ul>\n<p><strong>Trisomia 16<\/strong><\/p>\n<\/p>\n<p>Cea mai frecvent\u0103 trisomie la avorturile spontane (\u00een forma complet\u0103 nu este compatibil\u0103 cu via\u021ba).<\/p>\n<\/p>\n<p><strong>Dac\u0103 exist\u0103 mozaicism, manifest\u0103rile clinice sunt:<\/strong><\/p>\n<\/p>\n<ul>\n<li>restric\u021bie sever\u0103 de cre\u0219tere intrauterin\u0103;<\/li>\n<li>prematuritate;<\/li>\n<li>malforma\u021bii cardiace \u0219i renale;<\/li>\n<li>retard psihomotor variabil.<\/li>\n<\/ul>\n<p><strong>Trisomia 22<\/strong><\/p>\n<\/p>\n<p>Trisomia complet\u0103 este letal\u0103; \u00een mozaicism este posibil\u0103 supravie\u021buirea.<\/p>\n<\/p>\n<p><strong>Manifest\u0103ri clinice:<\/strong><\/p>\n<\/p>\n<ul>\n<li>retard sever de dezvoltare;<\/li>\n<li>hipotonie;<\/li>\n<li>anomalii craniofaciale (microgna\u021bie, urechi jos inserate);<\/li>\n<li>malforma\u021bii cardiace, genitale \u0219i renale;<\/li>\n<li>probleme de vedere \u0219i auz.<\/li>\n<\/ul>\n<p><strong>Trisomia 9 (par\u021bial\u0103, prin anomalii structurale)<\/strong><\/p>\n<\/p>\n<p>Este considerat\u0103 o trisomie par\u021bial\u0103 (nu o aneuploidie complet\u0103).<\/p>\n<\/p>\n<p><strong>Manifest\u0103ri clinice:<\/strong><\/p>\n<\/p>\n<ul>\n<li>retard de cre\u0219tere;<\/li>\n<li>facies tipic (frunte proeminent\u0103, nas scurt, gur\u0103 mare);<\/li>\n<li>anomalii genitale (ambiguitate sexual\u0103, criptorhidie);<\/li>\n<li>deficite cognitive \u0219i motorii.<\/li>\n<\/ul>\n<p><strong>Alte aneuploidii foarte rare (ex. 2, 7, 20)<\/strong><\/p>\n<\/p>\n<ul>\n<li>extrem de rare \u00een practica clinic\u0103, descrise aproape exclusiv \u00een mozaicism;<\/li>\n<li>asociate cu: retard sever de cre\u0219tere, anomalii multiple de organe, incompatibile cu via\u021ba \u00een majoritatea cazurilor.<\/li>\n<\/ul>\n<p><strong style=\"color: #ff9900\">5. Determinarea sexului fetal<\/strong><\/p>\n<\/p>\n<ul>\n<li>determin\u0103 sexul fetal pentru sarcinile unice;<\/li>\n<li>detecteaz\u0103 prezen\u021ba cromozomului Y pentru sarcinile gemelare.<\/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 mam\u0103 surogat.<\/li>\n<\/ul>\n<p class=\"ql-align-justify\"><strong>Metodologie de testare<\/strong><\/p>\n<p class=\"ql-align-justify\">\n<p class=\"ql-align-justify\"><strong>SanGene NIPT<\/strong> utilizeaz\u0103 tehnologia NGS <em>paired-end<\/em>, secven\u021bierea \u00eentregului genom (whole genome sequencing), pentru analiza ADN-ului fetal liber circulant prezent \u00een s\u00e2ngele matern.<\/p>\n<p class=\"ql-align-justify\">\n<p class=\"ql-align-justify\"><strong>Beneficii \u0219i importan\u021b\u0103 clinic\u0103<\/strong><\/p>\n<p class=\"ql-align-justify\">\n<ul>\n<li>Secven\u021bierea de tip NGS <em>paired-end<\/em> permite diferen\u021bierea \u00eentre ADN-ul fetal liber circulant \u0219i ADN-ul matern, ceea ce \u00eembun\u0103t\u0103\u021be\u0219te evaluarea frac\u021biei fetale \u0219i cre\u0219te performan\u021bele testului.<\/li>\n<li>Spre deosebire de alte metode de testare NIPT, aceast\u0103 tehnic\u0103 furnizeaz\u0103 un volum mai mare de informa\u021bii \u00eentr-un timp mai scurt, fiind eliminate posibilele surse de eroare ce pot ap\u0103rea \u00een cazul secven\u021bierii \u021bintite sau a microarray.<\/li>\n<li>Testul are specificitate \u0219i sensibilitate crescute (&gt;99%), ceea ce reduce num\u0103rul de rezultate fals pozitive, evit\u00e2nd astfel proceduri invazive inutile.<\/li>\n<li>Utilizeaz\u0103 tehnologia NGS pentru secven\u021bierea \u00eentregului genom fetal, ceea ce 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>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<\/p>\n<ul>\n<li>Screening status de purt\u0103tor &#8211; 420 gene &#8211; Carrier Screening 420 genes &#8211; for patients<\/li>\n<li>Carrier Screening Avansat bazat pe Exom (cu analiza a 2.423 gene)<\/li>\n<li>Screening status de purt\u0103tor pentru muta\u021biile CFTR F508del (Fibroza chistica) si GJB2 35delG (surditate genetica)<\/li>\n<li>Detectie muta\u021bie GJB2 35delG (surditate genetic\u0103)<\/li>\n<li>Detectie muta\u021bie F508del (fibroza chistic\u0103)<\/li>\n<li>dublu test (determinarea parametrilor biochimici free beta hcg si PAPP-A, Kryptor)<\/li>\n<li>dublu test (screening prenatal trimestrul i, 11-13 s\u0103pt\u0103m\u00e2ni si 6 zile)<\/li>\n<li>DRY TEST trimestrul i de sarcina (bitest PRISCA si screening genetic al gravidei pentru muta\u021biile CFTR F508DEL si GJB2 35delg)<\/li>\n<li>evaluare risc preeclampsie (PAPP-A\/PLGF) (11 &#8211; 13.6 s\u0103pt\u0103m\u00e2ni)<\/li>\n<\/ul>\n<p><span style=\"color: black\">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 <\/span><strong style=\"color: black\">GRATUIT<\/strong><span style=\"color: black\"> \u0219i este destinat interpret\u0103rii rezultatelor \u0219i stabilirii indica\u021biilor terapeutice.<\/span><\/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: <\/strong>0773.975.894 <\/p>\n<\/p>\n<p><strong>Program: <\/strong>Luni\u2013Vineri<\/p>\n<\/p>\n<p><strong>Orele: <\/strong>8:00\u201316:30<\/p>\n<\/p>\n<p><strong>Call Center: <\/strong>*8787<strong> \u00a0<\/strong><\/p>\n<\/p><\/p>\n","protected":false},"excerpt":{"rendered":"<p><strong>SanGene NIPT Genome Screen <\/strong>\u2013 include CNV + aneuploidii rare (sarcin\u0103 unic\u0103 sau gemelar\u0103) \u2013 este destinat screeningului prenatal non-invaziv, care detecteaz\u0103 posibile anomalii genetice ale f\u0103tului, \u00eenc\u0103 din 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 face screening pentru:<\/strong><\/p>\n<\/p>\n<ul>\n<li>aneuplodiile comune: trisomia 13 (sindromul Patau), trisomia 18 (sindromul Edwards), trisomia 21 (sindromul Down);<\/li>\n<li>sexul fetal (detecteaz\u0103 prezen\u021ba cromozomului Y);<\/li>\n<li>aneuploidii ale cromozomilor sexuali: sindromul Turner (45,X), sindromul Klinefelter (47,XXY), sindromul Triple X (47,XXX), sindromul Jacobs (47,XYY);<\/li>\n<li>dele\u021bii \u0219i duplica\u021bii par\u021biale mai mari de 7 Mb (CNV-uri). Sunt identificate \u0219i raportate sindroamele genetice cauzate de microdele\u021bii (por\u021biuni lips\u0103) sau microduplica\u021bii (por\u021biuni suplimentare) ale materialului genetic;<\/li>\n<li>aneuploidii autozomale rare care afecteaz\u0103 to\u021bi cromozomii (RAA).<\/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-26929","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\/26929","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=26929"}],"wp:term":[{"taxonomy":"product_brand","embeddable":true,"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product_brand?post=26929"},{"taxonomy":"product_cat","embeddable":true,"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product_cat?post=26929"},{"taxonomy":"product_tag","embeddable":true,"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product_tag?post=26929"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}