{"id":10479,"date":"2008-01-14T15:10:20","date_gmt":"2008-01-14T12:10:20","guid":{"rendered":"https:\/\/www.synevo.ro\/afectiuni\/screening-prenatal-pentru-sindromul-down-si-alte-anomalii-fetale\/"},"modified":"2020-07-10T12:05:59","modified_gmt":"2020-07-10T09:05:59","slug":"screening-prenatal-pentru-sindromul-down-si-alte-anomalii-fetale","status":"publish","type":"synevo_diseases","link":"https:\/\/old.synevo.md\/ru\/afectiuni\/screening-prenatal-pentru-sindromul-down-si-alte-anomalii-fetale\/","title":{"rendered":"Screening prenatal pentru sindromul Down \u015fi alte anomalii fetale"},"content":{"rendered":"<p style=\"text-align: justify;\"><span style=\"color: #00539f;\"><strong>Screening-ul prenatal al markerilor serici materni<\/strong><\/span> a devenit un instrument important pentru obstetricieni, \u00een scopul identific\u0103rii sarcinilor cu risc crescut pentru anumite anomalii fetale, cum ar fi<!--more-->: defectele de tub neural, trisomia 21 (sindromul Down) \u015fi trisomia 18 (sindromul Edwards). Screeningul \u015fi diagnosticul prenatal permite femeii gravide de a lua o decizie \u00een cunostin\u0163\u0103 de cauz\u0103 \u00een privin\u0163a sarcinii.<sup>3,4<\/sup><\/p>\n<p style=\"text-align: justify;\">Screening-ul const\u0103 \u00een determinarea seric\u0103 a unor anali\u0163i produ\u015fi de f\u0103t \u015fi placent\u0103; valorile ob\u0163inute pentru ace\u015fti markeri \u00eempreun\u0103 cu unele date clinice materne (v\u00e2rst\u0103 matern\u0103, v\u00e2rst\u0103 gesta\u0163ional\u0103, greutate, ras\u0103, status diabetic, fumat, fertilizare \u201cin vitro\u201d) num\u0103rul fe\u0163ilor, date ecografice de anatomie fetal\u0103, sunt folosite \u00eentr-un model matematic complex (realizat cu ajutorul unor programe speciale de calculator, ex. Prisca) pentru a furniza un risc calculat.<sup>2 <\/sup>Laboratorul stabile\u015fte un cut-off (limit\u0103) pentru fiecare condi\u0163ie; ob\u0163inerea unui risc crescut indic\u0103 faptul c\u0103 valoarea ob\u0163inut\u0103 dep\u0103\u015fe\u015fte cut-off-ul stabilit, dar nu are valoare diagnostic\u0103, ci mai degrab\u0103 indic\u0103 oportunitatea efectu\u0103rii unor investiga\u0163ii suplimentare.<sup>1,3,4<\/sup><\/p>\n<hr \/>\n<p style=\"text-align: justify;\"><span style=\"color: #00539f;\"><strong>Defectele de tub neural (anencefalia, spina bifid\u0103 deschis\u0103 \u015fi encefalocelul)<\/strong><\/span> sunt un grup heterogen de malforma\u0163ii congenitale decurg\u00e2nd dintr-un e\u015fec de fuziune a tubului neural. Anencefalia este aproape \u00eentotdeauna fatal\u0103 la sau \u00een cateva ore de la na\u015ftere. Rata de supravie\u0163uire, gradul handicapului \u015fi coeficientul de inteligen\u0163\u0103 al copilului cu spin\u0103 bifid\u0103 sau encefalocel variaz\u0103 cu localizarea \u015fi severitatea leziunii \u015fi cu tratamentul aplicat. Inciden\u0163a estimat\u0103 a defectelor de tub neural \u00een Statele Unite este de 1\/1300 nou-nascu\u0163i vii.<\/p>\n<hr \/>\n<p style=\"text-align: justify;\"><span style=\"color: #00539f;\"><strong>Sindromul Down (trisomia 21)<\/strong><\/span> este o anomalie cromozomial\u0103 autosomal\u0103 caracterizat\u0103 \u00een principal prin retard de cre\u015ftere uterin\u0103, hipotonie muscular\u0103, retard mental moderat-sever.5 Pielea \u00een exces din jurul g\u00e2tului este frecvent \u00eent\u00e2lnit\u0103 \u015fi poate fi depistat\u0103 prin ecografie fetal\u0103 ca un edem al g\u00e2tului. La aproximativ 40% dintre nou-n\u0103scu\u0163ii afecta\u0163i se constat\u0103 boli cardiace congenitale, care afecteaz\u0103 cel mai frecvent septul interventricular sau canalul atrioventricular. Se constat\u0103 cre\u015fterea inciden\u0163ei pentru aproape toate cel\u0103late anomalii congenitale \u015fi \u00een special a atreziei duodenale.6 Moartea f\u0103tului afectat survine \u00een ~ 31% din cazuri. Inciden\u0163a estimat\u0103 a sindromului Down in Satele Unite este de 1\/750 nou-n\u0103scu\u0163i vii. Riscul de a avea un f\u0103t afectat cre\u015fte cu v\u00e2rsta matern\u0103.<\/p>\n<p style=\"text-align: justify;\"><span style=\"color: #00539f;\"><strong>Trisomia 18 (sindromul Edwards) <\/strong><\/span>este o anomalie cromozomial\u0103 secundar\u0103 unui cromozom 18 \u00een plus, caracterizat\u0103 prin retard mental sever, boli congenitale cardiace severe, malforma\u0163ii renale, urechi malformate jos implantate, pumnul \u00eencle\u015ftat tipic. Un num\u0103r necunoscut de cazuri avorteaz\u0103 \u00een cursul primului trimestru de sarcin\u0103 \u015fi aproximativ 70% din cazuri avorteaz\u0103 spontan \u00een cursul trimestrelor II si III. 30% din cei care se nasc cu trisomie 18 decedeaz\u0103 \u00een prima lun\u0103 de via\u0163\u0103 \u015fi 90% \u00een primul an de via\u0163\u0103. Inciden\u0163a afec\u0163iunii este estimat\u0103 la 1\/6000 nou n\u0103scu\u0163i vii, cresc\u00e2nd cu v\u00e2rsta matern\u0103.<sup>5<br \/><\/sup>Din punct de vedere al momentului screening-ului prenatal al anomaliilor cromozomiale \u015fi al tipului de markeri folosi\u0163i, testele pot fi clasificate astfel:<\/p><p><a href=\"\/shop\/dublu-test-screening-prenatal-trim-i\/\" class=\"rank-math-link\">screening de trimestrul I (Dublu Test)<\/a> ecografic, serologic sau combinat;<\/p><p><a href=\"\/shop\/triplu-test-screening-prenatal-trim-ii\/\" class=\"rank-math-link\">screening de trimestrul al II-lea (Triplu test)<\/a> triplu sau cvadruplu test serologic;<\/p><p>screening integrat de trimestru I \u015fi II.<sup>7<\/sup><\/p><div class=\"wp-block-columns is-layout-flex wp-container-core-columns-is-layout-1 wp-block-columns-is-layout-flex\"><div class=\"wp-block-column is-vertically-aligned-center is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:33.33%\"><p><strong>Teste disponibile \u00een laboratoarele Synevo: <\/strong><\/p><\/div>\n\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:66.66%\"><div class=\"synevo-shop-products\">\r\n    <div class=\"sysprod\">\r\n        \r\n        <div class=\"sysprod-products\">\r\n                            <div class=\"sysprod-product\">\r\n                    <a class=\"sysprod-product-title\" href=\"https:\/\/old.synevo.md\/ru\/shop\/dublu-test-parametrii-biochimici-delfia-xpress\/\">Dublu test (parametrii biochimici &#8211; Delfia Xpress)<\/a>\r\n                    <div class=\"sysprod-product-price\">\r\n                        <span>Pre\u021b:<\/span>\r\n                        <span>790 lei<\/span>\r\n                    <\/div>\r\n                                            <div class=\"sysprod-product-addcart\">\r\n                            <a\r\n                                href=\"?add-to-cart=11892\"\r\n                                data-quantity=\"1\"\r\n                                class=\"addToCart button product_type_simple add_to_cart_button ajax_add_to_cart \"\r\n                                data-product_id=\"11892\"\r\n                                data-product_sku=\"IM263\"\r\n                                rel=\"nofollow\"\r\n                            ><div><\/div><\/a>\r\n                        <\/div>\r\n                                    <\/div>\r\n                            <div class=\"sysprod-product\">\r\n                    <a class=\"sysprod-product-title\" href=\"https:\/\/old.synevo.md\/ru\/shop\/triplu-test-screening-prenatal-trim-ii\/\">Triplu test (screening prenatal trim. II)<\/a>\r\n                    <div class=\"sysprod-product-price\">\r\n                        <span>Pre\u021b:<\/span>\r\n                        <span>660 lei<\/span>\r\n                    <\/div>\r\n                                            <div class=\"sysprod-product-addcart\">\r\n                            <a\r\n                                href=\"?add-to-cart=9323\"\r\n                                data-quantity=\"1\"\r\n                                class=\"addToCart button product_type_simple add_to_cart_button ajax_add_to_cart \"\r\n                                data-product_id=\"9323\"\r\n                                data-product_sku=\"ME37\"\r\n                                rel=\"nofollow\"\r\n                            ><div><\/div><\/a>\r\n                        <\/div>\r\n                                    <\/div>\r\n                    <\/div>\r\n        \r\n    <\/div>\r\n<\/div>\r\n\r\n<style>\r\n.synevo-shop-products {\r\n    padding: 24px 0;\r\n    margin: 24px 0;\r\n    border-radius: 10px;\r\n    background: #F6F7F9;\r\n}\r\n.synevo-shop-products .sysprod-product {\r\n    position: relative;\r\n    margin: 0 24px;\r\n    margin-bottom: 24px;\r\n    border-radius: 10px;\r\n    background: #fff;\r\n    display: flex;\r\n    flex-direction: row;\r\n    align-items: center;\r\n}\r\n.synevo-shop-products .sysprod-product:last-child {\r\n    margin-bottom: 0;\r\n}\r\n.synevo-shop-products .sysprod-product-title {\r\n    flex-grow: 1;\r\n    padding: 15px;\r\n    margin-left: 14px;\r\n    font-family: Poppins,sans-serif;\r\n    font-weight: 600;\r\n    font-size: 16px;\r\n    color: #29263F;\r\n}\r\n.synevo-shop-products .sysprod-product-price {\r\n    flex-shrink: 0;\r\n    font-family: Poppins,sans-serif;\r\n    font-weight: 600;\r\n    font-size: 18px;\r\n    color: #FDB813;\r\n}\r\n.synevo-shop-products .sysprod-product-addcart {\r\n    flex-shrink: 0;\r\n    position: relative;\r\n    width: 38px;\r\n    height: 38px;\r\n    margin-left: 24px;\r\n    margin-right: 24px;\r\n}\r\n.synevo-shop-products .sysprod-product-addcart .button {\r\n    top: unset;\r\n    right: unset;\r\n}\r\n<\/style><\/div><\/div><hr class=\"wp-block-separator\"\/><p><small><strong>Bibliografie:<\/strong><\/small><\/p><p><small>1. Ann M. Gronowski. Prenatal Screening for Fetal Defects. In Handbook of Clinical Laboratory Testing During Pregnancy. Totowa, NJ: Humana Press, Ed. 2004, 93-99<br>2. Laborator Synevo. Referin\u0163ele specifice tehnologiei de lucru utilizate 2006. Ref Type: Catalog<br>3. Mayo Reference Services Publication. Communiqu\u00e9. Maternal Serum Quad Screen: Review of Testing and Clinical Applications. www.questdiagnostics.com 2002. Ref Type: Internet Communication<br>4. Mayo Reference Services Publication. Maternal Serum Screen. www.questdiagnostics.com 2006. Ref Type: Internet Communication<br>5. Prenatal Screening and Diagnosis of Neural Tube Defects, Down, Syndrome and Trisomy 18, www.questdiagnostics.com 2006, Ref Type: Internet Communication<br>6. Anomalii cromozomiale, In Manualul Merck de diagnostic \u015fi tratament, Mark, H. Beers, Robert Berkow, edi\u0163ia a XVII-a, 2002, 2235-2236.<br>7. Alina Veduta, R. Vl\u0103d\u0103reanu, Diagnosticul prenatal al anomaliilor cromozomiale, www.presspro-gineco.ro 2007, Ref Type: Internet Communication<\/small><\/p>","protected":false},"featured_media":0,"template":"","synevo_diseases_category":[896],"class_list":["post-10479","synevo_diseases","type-synevo_diseases","status-publish","hentry","synevo_diseases_category-ginecologie-si-obstetrica"],"_links":{"self":[{"href":"https:\/\/old.synevo.md\/ru\/wp-json\/wp\/v2\/synevo_diseases\/10479","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/old.synevo.md\/ru\/wp-json\/wp\/v2\/synevo_diseases"}],"about":[{"href":"https:\/\/old.synevo.md\/ru\/wp-json\/wp\/v2\/types\/synevo_diseases"}],"wp:attachment":[{"href":"https:\/\/old.synevo.md\/ru\/wp-json\/wp\/v2\/media?parent=10479"}],"wp:term":[{"taxonomy":"synevo_diseases_category","embeddable":true,"href":"https:\/\/old.synevo.md\/ru\/wp-json\/wp\/v2\/synevo_diseases_category?post=10479"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}