{"id":43385,"date":"2025-09-30T23:00:41","date_gmt":"2025-09-30T21:00:41","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/analize\/sangene-nipt-genome-screen-microdeletii-include-cnv-aneuploidii-rare-sarcina-unica\/"},"modified":"2026-03-24T12:17:32","modified_gmt":"2026-03-24T10:17:32","slug":"sangene-nipt-genome-screen-microdeletii-include-cnv-aneuploidii-rare-sarcina-unica","status":"publish","type":"product","link":"https:\/\/www.clinica-sante.com\/ro\/analize-genetica-in-sarcina\/sangene-nipt-genome-screen-microdeletii-include-cnv-aneuploidii-rare-sarcina-unica\/","title":{"rendered":"SanGene NIPT Genome Screen + Microdeletii include CNV + aneuploidii rare (sarcina unica)"},"content":{"rendered":"<p>Acest NIPT <strong>nu este un test de diagnostic<\/strong>, iar <strong>rezultatele pozitive necesit\u0103 confirmare<\/strong> prin teste de diagnostic din lichid amniotic sau vilozit\u0103\u021bi coriale. Cu toate acestea, permite un <strong>screening extins<\/strong>, cu <strong>acurate\u021be ridicat\u0103<\/strong>, pentru o palet\u0103 larg\u0103 de afec\u021biuni genetice cu impact clinic.<\/p>\n<p>Societ\u0103\u021bi interna\u021bionale precum <strong>Colegiul American al Obstetricienilor \u0219i Ginecologilor (ACOG)<\/strong> recomand\u0103 ca toate gravidele s\u0103 fie informate despre op\u021biunile de <strong>screening NIPT<\/strong> pentru aneuploidii <strong>comune<\/strong>.<\/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><strong><span style=\"color: #ff9c00;\">1. Aneuploidii comune<\/span><\/strong><\/p>\n<p><strong>Trisomia 13 (Sindromul Patau)<\/strong><\/p>\n<p>Manifest\u0103ri clinice:<\/p>\n<ul>\n<li>dizabilitate intelectual\u0103 sever\u0103;<\/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 \u00een primul an).<\/li>\n<\/ul>\n<p><strong>Trisomia 18 (Sindromul Edwards)<\/strong><\/p>\n<p>Manifest\u0103ri clinice:<\/p>\n<ul>\n<li>retard mental 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>Manifest\u0103ri clinice:<\/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><span style=\"color: #ff9c00;\">2. Aneuploidii ale cromozomilor sexuali<\/span><\/strong><\/p>\n<p><strong>Sindromul Turner (45, X)<\/strong><\/p>\n<p>Manifest\u0103ri clinice:<\/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<\/ul>\n<p><strong>Sindromul Klinefelter (47, XXY)<\/strong><\/p>\n<p>Manifest\u0103ri clinice:<\/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>Manifest\u0103ri clinice:<\/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>Manifest\u0103ri clinice:<\/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><span style=\"color: #ff9c00;\"><b>3. Determinarea sexului fetal<\/b><\/span><\/p>\n<p><strong><span style=\"color: #ff9c00;\">4. CNV (dele\u021bii\/duplica\u021bii mari &gt;7 Mb)<\/span><\/strong><\/p>\n<p>Manifest\u0103ri clinice:<\/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><span style=\"color: #ff9c00;\">5. Microdele\u021bii \u021bintite<\/span><\/strong><\/p>\n<p><strong>1p36 \u2013 Sindrom de microdele\u021bie 1p36<\/strong><\/p>\n<p>Manifest\u0103ri clinice:<\/p>\n<ul>\n<li>retard psihomotor;<\/li>\n<li>hipotonie, epilepsie;<\/li>\n<li>tr\u0103s\u0103turi faciale: frunte lat\u0103, b\u0103rbie mic\u0103;<\/li>\n<li>cardiomiopatii;<\/li>\n<li>culbur\u0103ri de vedere \u0219i auz.<\/li>\n<\/ul>\n<p><strong>4p16.3 \u2013 Sindrom Wolf\u2013Hirschhorn<\/strong><\/p>\n<p>Manifest\u0103ri clinice:<\/p>\n<ul>\n<li>retard sever de cre\u0219tere \u0219i dezvoltare;<\/li>\n<li>microcefalie;<\/li>\n<li>facies tipic (\u201ecasc\u0103 de r\u0103zboinic grec\u201d);<\/li>\n<li>convulsii;<\/li>\n<li>malforma\u021bii cardiace \u0219i renale.<\/li>\n<\/ul>\n<p><strong>5p15.2 \u2013 Sindrom Cri-du-chat<\/strong><\/p>\n<p>Manifest\u0103ri clinice:<\/p>\n<ul>\n<li>pl\u00e2ns caracteristic (\u201emieunat de pisic\u0103\u201d) \u00een copil\u0103rie;<\/li>\n<li>retard intelectual sever;<\/li>\n<li>microcefalie;<\/li>\n<li>hipotonie;<\/li>\n<li>tr\u0103s\u0103turi faciale distinctive;<\/li>\n<li>malforma\u021bii de organ.<\/li>\n<\/ul>\n<p><strong>15q11.2 \u2013 Sindrom Prader\u2013Willi<\/strong><\/p>\n<p>Manifest\u0103ri clinice:<\/p>\n<ul>\n<li>hipotonie neonatal\u0103;<\/li>\n<li>probleme de alimenta\u021bie \u00een copil\u0103rie, urmate de hiperfagie \u0219i obezitate sever\u0103;<\/li>\n<li>retard intelectual u\u0219or\u2013moderat;<\/li>\n<li>hipogonadism, infertilitate.<\/li>\n<\/ul>\n<p><strong>15q11.2 \u2013 Sindrom Angelman<\/strong><\/p>\n<p>Manifest\u0103ri clinice:<\/p>\n<ul>\n<li>retard sever de dezvoltare;<\/li>\n<li>ataxie, probleme de echilibru;<\/li>\n<li>crize epileptice;<\/li>\n<li>comportament vesel, r\u00e2s frecvent (\u201ehappy puppet\u201d);<\/li>\n<li>microcefalie.<\/li>\n<\/ul>\n<p><strong>22q11.2 \u2013 Sindrom DiGeorge \/ velocardiofacial<\/strong><\/p>\n<p>Manifest\u0103ri clinice:<\/p>\n<ul>\n<li>defecte cardiace conotruncale;<\/li>\n<li>hipoplazie timic\u0103 \u2192 imunodeficien\u021b\u0103;<\/li>\n<li>hipocalcemie prin hipoparatiroidism;<\/li>\n<li>tr\u0103s\u0103turi faciale caracteristice (urechi mici, b\u0103rbie mic\u0103, nas lung \u0219i \u00eengust);<\/li>\n<li>\u00eent\u00e2rziere \u00een dezvoltare; risc de schizofrenie \u0219i tulbur\u0103ri psihiatrice.<\/li>\n<\/ul>\n<p><strong><span style=\"color: #ff9c00;\">6. Aneuploidii autozomale rare (anomalii numerice ale altor cromozomi autozomali<\/span><\/strong><span style=\"color: #ff9900;\"> &#8211; <\/span>nu doar 13, 18 \u0219i 21 &#8211; dar \u0219i combina\u021bii rare de mozaicism):<\/p>\n<p><strong>Trisomia 8 (Sindromul Warkany 2)<\/strong><\/p>\n<p>Adesea apare ca <strong>mozaicism<\/strong> (trisomia complet\u0103 este letal\u0103).<\/p>\n<p>Manifest\u0103ri clinice:<\/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>malforma\u021bii cardiace \u0219i renale;<\/li>\n<li>risc crescut de leucemie mieloid\u0103.<\/li>\n<\/ul>\n<p><strong>Trisomia 9<\/strong><\/p>\n<p>Forma complet\u0103 este <strong>letal\u0103<\/strong> \u00een perioada neonatal\u0103; mozaicism \u2192 supravie\u021buire mai lung\u0103.<\/p>\n<p>Manifest\u0103ri clinice:<\/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><strong>Cea mai frecvent\u0103 trisomie la avorturile spontane<\/strong> (\u00een forma complet\u0103 nu este compatibil\u0103 cu via\u021ba).<\/p>\n<p>Dac\u0103 exist\u0103 <strong>mozaicism, <\/strong>manifest\u0103rile clinice sunt:<\/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><strong>Trisomia complet\u0103 este letal\u0103<\/strong>; \u00een mozaicism este posibil\u0103 supravie\u021buirea.<\/p>\n<p>Manifest\u0103ri clinice:<\/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 9p (par\u021bial\u0103, prin anomalii structurale)<\/strong><\/p>\n<p>Este considerat\u0103 o <strong>trisomie par\u021bial\u0103<\/strong> (nu o aneuploidie complet\u0103).<\/p>\n<p>Manifest\u0103ri clinice:<\/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<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 organ, incompatibile cu via\u021ba \u00een majoritatea cazurilor.<\/li>\n<\/ul>\n<p><strong>Cui se adreseaz\u0103 analiza:<\/strong><\/p>\n<ul>\n<li>sarcinilor cu un singur f\u0103t;<\/li>\n<li>femeilor \u00a0\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.<\/li>\n<\/ul>\n<p class=\"ql-align-justify\"><strong>Metodologie de testare<\/strong><\/p>\n<p class=\"ql-align-justify\">SanGene NIPT utilizeaz\u0103 tehnologia NGS paired-end, cu secven\u021bierea \u00eentregului genom (whole genome sequencing),\u00a0pentru a analiza ADN-ul fetal liber circulant prezent \u00een s\u00e2ngele matern.<\/p>\n<p class=\"ql-align-justify\"><strong>Beneficii \u0219i importan\u021b\u0103 clinic\u0103:<\/strong><\/p>\n<ul>\n<li>secventierea de tip NGS paired-end permite diferen\u021bierea \u00eentre ADN-ul fetal liber circulant \u0219i ADN-ul matern, ceea ce \u00eembun\u0103t\u0103\u021be\u0219te evaluarea frac\u021biei fetale si 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, ceea ce elimin\u0103 posibile surse de eroare care pot ap\u0103rea \u00een cazul secven\u021bierii \u021bintite sau al microarray-ului;<\/li>\n<li>testul are specificitate \u0219i sensibilitate crescute (&gt;99%), ceea ce reduce num\u0103rul rezultatelor 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<ul>\n<li>testul poate fi efectuat doar pentru sarcinile unice, at\u00e2t pentru cele ob\u021binute natural, c\u00e2t \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 11 de sarcin\u0103;<\/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<ul>\n<li>proba: s\u00e2nge total recoltat \u00een recipient special (Vacutainer Streck, volum 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><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 GRATUIT \u0219i este destinat interpret\u0103rii rezultatelor \u0219i stabilirii indica\u021biilor terapeutice.<\/span><\/p>\n<p><strong>E-mail: <a href=\"mailto:consult.genetic@clinica-sante.ro\" target=\"_blank\" rel=\"noopener noreferrer\">consult.genetic@clinica-sante.ro<\/a> <\/strong><\/p>\n<p><strong> Telefon: <\/strong>0773.975.894<\/p>\n<p><strong>Program: <\/strong>Luni\u2013Vineri<\/p>\n<p><strong>Orele: <\/strong>8:00\u201316:30<\/p>\n<p><strong>Call Center: <\/strong>*8787<\/p>\n","protected":false},"excerpt":{"rendered":"<p class=\"ql-align-justify\">SanGene NIPT <strong>Genome Screen + Microdele\u021bii <\/strong>(include CNV + aneuploidii rare, sarcin\u0103 unic\u0103) este un <strong>test destinat screeningului prenatal<\/strong> non-invaziv care detecteaz\u0103 posibile <strong>anomalii genetice ale f\u0103tului<\/strong>, \u00eenc\u0103 din s\u0103pt\u0103m\u00e2na 11 de sarcin\u0103, <strong>analiz\u00e2nd ADN-ul fetal<\/strong> liber circulant \u00een s\u00e2ngele matern.<\/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":[3330,3990,3332,3989,3331],"class_list":{"0":"post-43385","1":"product","2":"type-product","3":"status-publish","5":"product_cat-analize","6":"product_cat-genetica-in-sarcina","7":"product_cat-serviciu-laborator","8":"product_tag-adn-fetal-in-sange-matern","9":"product_tag-cnv-si-aneuploidii-rare","10":"product_tag-nipt","11":"product_tag-nipt-cu-microdeletii","12":"product_tag-test-prenatal-non-invaziv-tpni","14":"first","15":"instock","16":"sale","17":"virtual","18":"purchasable","19":"product-type-simple"},"acf":[],"aioseo_notices":[],"_links":{"self":[{"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product\/43385","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=43385"}],"wp:term":[{"taxonomy":"product_brand","embeddable":true,"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product_brand?post=43385"},{"taxonomy":"product_cat","embeddable":true,"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product_cat?post=43385"},{"taxonomy":"product_tag","embeddable":true,"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product_tag?post=43385"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}