{"id":43383,"date":"2025-10-01T00:00:37","date_gmt":"2025-09-30T21:00:37","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/analize\/sangene-nipt-extended-microdeletii-include-cnv-sarcina-unica\/"},"modified":"2026-03-31T10:40:40","modified_gmt":"2026-03-31T07:40:40","slug":"sangene-nipt-extended-microdeletii-include-cnv-sarcina-unica","status":"publish","type":"product","link":"https:\/\/www.clinica-sante.com\/ro\/analize-genetica-in-sarcina\/sangene-nipt-extended-microdeletii-include-cnv-sarcina-unica\/","title":{"rendered":"SanGene NIPT Extended + microdeletii include CNV (sarcina unica)"},"content":{"rendered":"<p><strong>SanGene NIPT Extended + microdele\u021bii &#8211; include CNV<\/strong> (sarcin\u0103 unic\u0103) este &nbsp;un 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 11 de sarcin\u0103, oferind precoce informa\u021bii importante pentru managementul ulterior al sarcinii.<\/p>\n<\/p>\n<p>De\u0219i &nbsp;SanGene NIPT Extended + microdele\u021bii &#8211; include CNV (sarcin\u0103 unic\u0103) nu este un test de diagnostic, iar rezultatele pozitive necesit\u0103 confirmarea cu teste de diagnostic din lichid amniotic sau 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>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><b><font color=\"#ff9c00\">1. Aneuploidii comune<\/font><\/b><strong><font color=\"#ff9c00\"><br \/><\/font><\/strong><\/p>\n<\/p>\n<p><strong>Trisomia 13 (Sindromul Patau)<\/strong><\/p>\n<\/p>\n<p>Manifest\u0103ri clinice:<\/p>\n<\/p>\n<ul>\n<li>retard mental 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 \u00een primul an).<\/li>\n<\/ul>\n<p><strong>Trisomia 18 (Sindromul Edwards)<\/strong><\/p>\n<\/p>\n<p>Manifest\u0103ri clinice:<\/p>\n<\/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>\n<p>Manifest\u0103ri clinice:<\/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><font color=\"#ff9c00\">2. Aneuploidii ale cromozomilor sexuali<\/font><\/strong><\/p>\n<\/p>\n<p><strong>Sindromul Turner (45, X)<\/strong><\/p>\n<\/p>\n<p>Manifest\u0103ri clinice:<\/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<\/ul>\n<p><strong>Sindromul Klinefelter (47, XXY)<\/strong><\/p>\n<\/p>\n<p>Manifest\u0103ri clinice:<\/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>Manifest\u0103ri clinice:<\/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>Manifest\u0103ri clinice:<\/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><b><font color=\"#ff9c00\">3. Determinarea sexului fetal<\/font><\/b><\/p>\n<\/p>\n<p><strong><font color=\"#ff9c00\">4. CNV-uri (dele\u021bii\/duplica\u021bii mari &gt;7 Mb)<\/font><\/strong><\/p>\n<\/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><font color=\"#ff9c00\">5. Microdele\u021bii \u021bintite<\/font><\/strong><\/p>\n<\/p>\n<p><strong>1p36 \u2013 Sindromul de microdele\u021bie 1p36<\/strong><\/p>\n<\/p>\n<p>Manifest\u0103ri clinice:<\/p>\n<\/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>tulbur\u0103ri de vedere \u0219i auz.<\/li>\n<\/ul>\n<p><strong>4p16.3 \u2013 Sindromul Wolf\u2013Hirschhorn<\/strong><\/p>\n<\/p>\n<p>Manifest\u0103ri clinice:<\/p>\n<\/p>\n<ul>\n<li>retard sever de cre\u0219tere \u0219i dezvoltare;<\/li>\n<li>microcefalie;<\/li>\n<li>facies tipic (\u201ecasca 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 Sindromul Cri-du-chat<\/strong><\/p>\n<\/p>\n<p>Manifest\u0103ri clinice:<\/p>\n<\/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 Sindromul Prader\u2013Willi<\/strong><\/p>\n<\/p>\n<p>Manifest\u0103ri clinice:<\/p>\n<\/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\u2013moderate;<\/li>\n<li>hipogonadism, infertilitate.<\/li>\n<\/ul>\n<p><strong>15q11.2 \u2013 Sindromul Angelman<\/strong><\/p>\n<\/p>\n<p>Manifest\u0103ri clinice:<\/p>\n<\/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 Sindromul DiGeorge \/ velocardiofacial<\/strong><\/p>\n<\/p>\n<p>Manifest\u0103ri clinice:<\/p>\n<\/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>Cui se adreseaz\u0103 analiza:<\/strong><\/p>\n<\/p>\n<ul>\n<li>sarcinilor cu un singur f\u0103t;<\/li>\n<li>femeilor\u00eens\u0103rcinate de orice v\u00e2rst\u0103, \u00een special cele 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\">\n<p class=\"ql-align-justify\">SanGene NIPT utilizeaz\u0103 tehnologia NGS paired-end, 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 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 \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 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<\/p>\n<ul>\n<li>s\u00e2nge total recoltat \u00een recipient special: Vacutainer Streck 1\u00d710 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 <\/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: <\/strong><strong style=\"color: #ff9900\"><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 &nbsp;<\/strong><\/p>\n<\/p>\n<\/p><\/p>\n","protected":false},"excerpt":{"rendered":"<p><strong>Testul SanGene NIPT Extended + microdele\u021bii &#8211; include CNV <\/strong>(sarcin\u0103 unic\u0103) este destinat screeningului prenatal non-invaziv, care detecteaz\u0103 posibile anomalii genetice ale f\u0103tului, \u00eenc\u0103 din s\u0103pt\u0103m\u00e2na 11 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<\/ul>\n<ul>\n<li>sexul fetal (detecteaz\u0103 prezen\u021ba cromozomului Y)<\/li>\n<\/ul>\n<ul>\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<\/ul>\n<ul>\n<li>dele\u021bii \u0219i duplica\u021bii par\u021biale mai mari de 7 Mb (CNV-uri). Sunt identificate \u0219i raportate sindroamele genetice cauzate de mici por\u021biuni lips\u0103 (microdele\u021bii) sau suplimentare (microduplica\u021bii) ale materialului genetic.<\/li>\n<\/ul>\n<ul>\n<li>microdele\u021bii \u021bintite \u00een regiunile cromozomiale:\u00a0Sindromul de microdele\u021bie 1p36, Sindromul Wolf\u2013Hirschhorn (4p16.3), Sindromul Cri-du-chat (5p15.2) , Sindromul Prader\u2013Willi \/ Sindromul Angelman (15q11.2), Sindromul DiGeorge \/ velocardiofacial (22q11.2).<\/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-43383","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\/43383","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=43383"}],"wp:term":[{"taxonomy":"product_brand","embeddable":true,"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product_brand?post=43383"},{"taxonomy":"product_cat","embeddable":true,"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product_cat?post=43383"},{"taxonomy":"product_tag","embeddable":true,"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product_tag?post=43383"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}