{"id":3467,"date":"2022-08-18T07:00:20","date_gmt":"2022-08-18T04:00:20","guid":{"rendered":"https:\/\/infosan.ro\/fara-categorie\/malformatiile-congenitale-cauze-tratament-si-metode-precoce-de-depistare\/"},"modified":"2025-03-25T10:23:25","modified_gmt":"2025-03-25T08:23:25","slug":"malformatiile-congenitale-cauze-tratament-si-metode-precoce-de-depistare","status":"publish","type":"post","link":"https:\/\/infosan.ro\/noutati\/malformatiile-congenitale-cauze-tratament-si-metode-precoce-de-depistare\/","title":{"rendered":"Malforma\u021biile congenitale \u2013 Cauze, tratament \u0219i metode precoce de depistare"},"content":{"rendered":"<p><span style=\"font-weight: 400;\">Malforma\u021biile congenitale provoac\u0103 la nivel mondial circa 240 000 de decese ale nou-n\u0103scu\u021bilor \u00een prima lun\u0103 de via\u021b\u0103, conform statisticilor Organiza\u021biei Mondiale a S\u0103n\u0103t\u0103\u021bii. De asemenea, alte 170 000 de decese sunt \u00eenregistrate anual din acelea\u0219i cauze, la copii cu v\u00e2rsta cuprins\u0103 \u00eentre 1 lun\u0103 \u0219i 5 ani. Dintre acestea, 9 din 10 cazuri se \u00eenregistreaz\u0103 \u00een \u021b\u0103rile s\u0103race, unde calitatea vie\u021bii este precar\u0103, iar accesul la preven\u021bie \u0219i tratament este limitat. Totu\u0219i, nu toate malforma\u021biile congenitale au consecin\u021be at\u00e2t de grave. Unele dintre acestea pot fi inofensive, iar medicina modern\u0103 permite depistarea acestora \u00eenc\u0103 din primele luni ale vie\u021bii intrauterine, cu ajutorul examenelor imagistice \u0219i al unor teste specifice. Exist\u0103, \u00eens\u0103, \u0219i malforma\u021bii congenitale care nu pot fi depistate dec\u00e2t \u00een momentul na\u0219terii sau mai t\u00e2rziu \u00een copil\u0103rie (de exemplu, defectele auditive sau deficien\u021bele vizuale).<\/span><\/p>\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_80 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">Cuprins<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" height=\"10px\" viewBox=\"0 0 24 24\" version=\"1.2\" baseProfile=\"tiny\"><path d=\"M18.2 9.3l-6.2-6.3-6.2 6.3c-.2.2-.3.4-.3.7s.1.5.3.7c.2.2.4.3.7.3h11c.3 0 .5-.1.7-.3.2-.2.3-.5.3-.7s-.1-.5-.3-.7zM5.8 14.7l6.2 6.3 6.2-6.3c.2-.2.3-.5.3-.7s-.1-.5-.3-.7c-.2-.2-.4-.3-.7-.3h-11c-.3 0-.5.1-.7.3-.2.2-.3.5-.3.7s.1.5.3.7z\"\/><\/svg><\/span><\/span><\/span><\/a><\/span><\/div>\n<nav><ul class='ez-toc-list ez-toc-list-level-1 ' ><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-1\" href=\"https:\/\/infosan.ro\/noutati\/malformatiile-congenitale-cauze-tratament-si-metode-precoce-de-depistare\/#Ce_inseamna_boli_congenitale_tipuri_si_exemple\" >Ce \u00eenseamn\u0103 boli congenitale + tipuri \u0219i exemple<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/infosan.ro\/noutati\/malformatiile-congenitale-cauze-tratament-si-metode-precoce-de-depistare\/#Afectiuni_congenitale_%E2%80%93_Cauze_si_factori_de_risc\" >Afec\u021biuni congenitale &#8211; Cauze \u0219i factori de risc<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/infosan.ro\/noutati\/malformatiile-congenitale-cauze-tratament-si-metode-precoce-de-depistare\/#Malformatii_congenitale_%E2%80%93_diagnostic\" >Malforma\u021bii congenitale &#8211; diagnostic<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/infosan.ro\/noutati\/malformatiile-congenitale-cauze-tratament-si-metode-precoce-de-depistare\/#Malformatii_congenitale_%E2%80%93_tratament_si_ingrijire\" >Malforma\u021bii congenitale &#8211; tratament \u0219i \u00eengrijire<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/infosan.ro\/noutati\/malformatiile-congenitale-cauze-tratament-si-metode-precoce-de-depistare\/#Malformatii_congenitale_%E2%80%93_depistare_preventie_si_screening\" >Malforma\u021bii congenitale &#8211; depistare, preven\u021bie \u0219i screening<\/a><\/li><\/ul><\/nav><\/div>\n<h2><span class=\"ez-toc-section\" id=\"Ce_inseamna_boli_congenitale_tipuri_si_exemple\"><\/span><span style=\"font-weight: 400;\">Ce \u00eenseamn\u0103 boli congenitale + tipuri \u0219i exemple<\/span><span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p><img fetchpriority=\"high\" decoding=\"async\" class=\"alignnone size-full wp-image-4428\" src=\"https:\/\/infosan.ro\/wp-content\/uploads\/1-Malformatii-congenitale.jpg\" alt=\"Malformatii congenitale\" width=\"1200\" height=\"800\"><\/p>\n<p><span style=\"font-weight: 400;\">Malforma\u021biile congenitale pot avea cauze diverse: genetice, de mediu, infec\u021bioase, nutri\u021bionale etc. Exist\u0103 \u00eens\u0103 \u0219i cazuri \u00een care acestea nu pot fi identificate. Cert este c\u0103 screeningul prenatal este una dintre metodele cele mai sigure prin care p\u0103rin\u021bii pot afla dac\u0103 sarcina se desf\u0103\u0219oar\u0103 sau nu \u00een bune condi\u021bii \u0219i dac\u0103 f\u0103tul se dezvolt\u0103 normal.<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Termenul de \u201econgenital\u201d define\u0219te apari\u021bia unei boli sau afec\u021biuni \u00eenc\u0103 din via\u021ba intrauterin\u0103, \u00eenainte de momentul na\u0219terii. Malforma\u021biile congenitale pot fi func\u021bionale (a\u0219a cum sunt bolile \u0219i afec\u021biunile legate de metabolism), structurale (organele sau anumite p\u0103r\u021bi ale corpului nu se formeaz\u0103 corect sau complet \u00een timpul vie\u021bii intrauterine sau chiar lipsesc) sau de dezvoltare (atunci c\u00e2nd un organ, o parte a corpului sau \u00eentregul organism nu se dezvolt\u0103 normal).<\/span><\/p>\n<p><span style=\"font-weight: 400;\">\u00cen acest top nefast al malforma\u021biilor congenitale, pe primele locuri se afl\u0103 malforma\u021biile tubului neural, malforma\u021biile cardiace \u0219i Sindromul Down.<\/span><\/p>\n<p><b>Cele mai frecvente defecte func\u021bionale:<\/b><\/p>\n<ul>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">probleme senzoriale;<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">defecte metabolice;<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">probleme ale sistemului nervos.<\/span><\/li>\n<\/ul>\n<p><b>Cele mai frecvente defecte structurale:<\/b><\/p>\n<ul>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">defectele cardiace;<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">despic\u0103tur\u0103 de buz\u0103 (\u201ebuz\u0103 de iepure\u201d) sau de v\u0103l palatin;<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">spina bifida;<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">picior str\u00e2mb.<\/span><\/li>\n<\/ul>\n<p><b>Cele mai frecvente probleme de dezvoltare:<\/b><\/p>\n<ul>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">Sindromul Down (trisomia 21);<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">boala celulelor secer\u0103;<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">fibroza chistic\u0103;<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">nanismul hipofizar.<\/span><\/li>\n<\/ul>\n<p><span style=\"font-weight: 400;\">Unii copii se confrunt\u0103 cu probleme fizice asociate cu malforma\u021bii congenitale specifice. Cu toate acestea, mul\u021bi nu prezint\u0103 anomalii vizibile. Defectele pot trece uneori neobservate timp de luni sau chiar ani de zile dup\u0103 ce copilul se na\u0219te.<\/span><\/p>\n<h2><span class=\"ez-toc-section\" id=\"Afectiuni_congenitale_%E2%80%93_Cauze_si_factori_de_risc\"><\/span><span style=\"font-weight: 400;\">Afec\u021biuni congenitale &#8211; Cauze \u0219i factori de risc<\/span><span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p><img decoding=\"async\" class=\"alignnone size-full wp-image-4427\" src=\"https:\/\/infosan.ro\/wp-content\/uploads\/2-Malformatii-congenitale.jpg\" alt=\"Malformatii congenitale\" width=\"1200\" height=\"800\"><\/p>\n<p><span style=\"font-weight: 400;\">Malforma\u021biile congenitale pot avea cauze legate de:<\/span><\/p>\n<p><b>Mo\u0219tenirea genetic\u0103<\/b><span style=\"font-weight: 400;\">. Printre malforma\u021biile congenitale determinate de anomaliile genetice se num\u0103r\u0103 trisomia 21 (Sindromul Down) \u0219i fibroza chistic\u0103. \u00cen cazul \u00een care p\u0103rin\u021bii copilului sunt rude de s\u00e2nge, chiar \u0219i mai \u00eendep\u0103rtate, riscul anomaliilor \u0219i dizabilit\u0103\u021bilor copilului cre\u0219te.<\/span><\/p>\n<p><b>Stilul de via\u021b\u0103 al p\u0103rin\u021bilor copilului \u0219i \u00een special al mamei<\/b><span style=\"font-weight: 400;\">. Printre factorii nocivi se num\u0103r\u0103 expunerea la anumite medicamente \u0219i substan\u021be chimice sau stupefiante. Fumatul, consumul de alcool, alimenta\u021bia dezechilibrat\u0103 sunt, de asemenea, d\u0103un\u0103toare. Speciali\u0219tii au observat c\u0103 persoanele cu venituri sc\u0103zute (care \u00eenseamn\u0103 \u0219i o alimenta\u021bie precar\u0103, traiul \u00eentr-un mediu nes\u0103n\u0103tos \u0219i accesul limitat la servicii \u0219i investiga\u021bii medicale) sunt mult mai expuse la riscul de a avea copii cu malforma\u021bii.<\/span><\/p>\n<p><b>V\u00e2rsta mamei<\/b><span style=\"font-weight: 400;\">. Cu c\u00e2t este mai avansat\u0103 v\u00e2rsta mamei, cu at\u00e2t mai mult cre\u0219te riscul de malforma\u021bii congenitale la f\u0103t. Exper\u021bii consider\u0103 c\u0103 riscurile \u00eencep s\u0103 creasc\u0103 progresiv dup\u0103 v\u00e2rsta de 35 de ani.<\/span><\/p>\n<p><b>Factorii de mediu, inclusiv infec\u021biile ap\u0103rute \u00een timpul sarcinii<\/b><span style=\"font-weight: 400;\">. Factorii de mediu includ expunerea la substan\u021be toxice, poluante, la radia\u021bii, la deficitul de acid folic sau iod din alimenta\u021bie sau infec\u021bii ale mamei, printre care rubeola, sifilisul, Zika. At\u00e2t infec\u021biile virale, c\u00e2t \u0219i cele bacteriene pot cauza probleme (inclusiv cele cu transmitere sexual\u0103), iar medicamentele trebuie administrate doar la recomandarea medicului, dat fiind c\u0103 inclusiv unele dintre acestea pot avea efecte teratogene.<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Cu toate c\u0103 a fost observat\u0103 o prevalen\u021b\u0103 \u00een situa\u021biile enumerate mai sus, cauzele exacte ale unora dintre malforma\u021biile congenitale r\u0103m\u00e2n deseori necunoscute. Este \u0219i cazul piciorului str\u00e2mb, a buzei sau v\u0103lului palatin despicate sau al malforma\u021biilor congenitale cardiace.<\/span><\/p>\n<p><b>Factori de risc pentru malforma\u021biile congenitale<\/b><\/p>\n<p><span style=\"font-weight: 400;\">Toate femeile \u00eens\u0103rcinate prezint\u0103 un anumit risc, mai mic sau mai mare, de a aduce pe lume un copil cu un defect congenital, dar riscul cre\u0219te \u00een oricare dintre urm\u0103toarele condi\u021bii:<\/span><\/p>\n<ul>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">antecedente familiale de malforma\u021bii congenitale sau alte tulbur\u0103ri genetice;<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">\u00eengrijire prenatal\u0103 necorespunz\u0103toare;<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">utilizarea anumitor medicamente cu risc ridicat, cum ar fi isotretinoina \u0219i litiul.<\/span><\/li>\n<\/ul>\n<p><span style=\"font-weight: 400;\">Femeile cu afec\u021biuni medicale preexistente, cum ar fi diabetul, prezint\u0103, de asemenea, un risc mai mare de a avea un copil cu un defect congenital.<\/span><\/p>\n<h2><span class=\"ez-toc-section\" id=\"Malformatii_congenitale_%E2%80%93_diagnostic\"><\/span><span style=\"font-weight: 400;\">Malforma\u021bii congenitale &#8211; diagnostic<\/span><span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p><img decoding=\"async\" class=\"alignnone size-full wp-image-4426\" src=\"https:\/\/infosan.ro\/wp-content\/uploads\/3-Malformatii-congenitale.jpg\" alt=\"Malformatii congenitale\" width=\"1200\" height=\"800\"><\/p>\n<p><span style=\"font-weight: 400;\">Multe tipuri de malforma\u021bii congenitale pot fi diagnosticate \u00een timpul sarcinii. Un medic poate folosi ecografiile prenatale pentru a-l ajuta s\u0103 diagnosticheze anumite malforma\u021bii congenitale in utero. De asemenea, exist\u0103 \u0219i op\u021biuni de screening mai aprofundate, cum ar fi testele de s\u00e2nge \u0219i amniocenteza (prelevarea unei probe din lichidul amniotic). Aceste teste sunt de obicei oferite femeilor care au sarcini cu risc mai mare din cauza antecedentelor familiale, a v\u00e2rstei materne avansate sau a altor factori asocia\u021bi.<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Testele prenatale pot determina \u0219i dac\u0103 mama are o infec\u021bie sau o alt\u0103 afec\u021biune care este d\u0103un\u0103toare pentru copil. Un examen fizic \u0219i un test de auz pot ajuta, de asemenea, medicul s\u0103 diagnosticheze malforma\u021biile congenitale dup\u0103 na\u0219terea copilului. Un test de s\u00e2nge numit screeningul nou-n\u0103scutului poate ajuta medicii s\u0103 diagnosticheze unele malforma\u021bii congenitale la scurt timp dup\u0103 na\u0219tere, \u00eenainte de apari\u021bia simptomelor.<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Este important de \u0219tiut c\u0103 screeningul prenatal nu g\u0103se\u0219te \u00eentotdeauna defectele atunci c\u00e2nd acestea sunt prezente. Un test de screening poate, de asemenea, s\u0103 dea un rezultat fals. Cu toate acestea, majoritatea defectelor congenitale pot fi diagnosticate cu certitudine dup\u0103 na\u0219tere.<\/span><\/p>\n<h2><span class=\"ez-toc-section\" id=\"Malformatii_congenitale_%E2%80%93_tratament_si_ingrijire\"><\/span><span style=\"font-weight: 400;\">Malforma\u021bii congenitale &#8211; tratament \u0219i \u00eengrijire<\/span><span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-full wp-image-4425\" src=\"https:\/\/infosan.ro\/wp-content\/uploads\/4-Malformatii-congenitale.jpg\" alt=\"Malformatii congenitale\" width=\"1200\" height=\"800\"><\/p>\n<p><span style=\"font-weight: 400;\">Unele malforma\u021bii congenitale pot fi tratate prin interven\u021bii medicale sau chirurgicale. Accesul la aceste \u00eengrijiri poate varia \u00een func\u021bie de \u021bar\u0103 \u0219i de diferitele niveluri ale unui sistem de s\u0103n\u0103tate, de\u0219i \u00eengrijirile complexe sunt disponibile din ce \u00een ce mai mult \u00een mediile cu venituri mici \u0219i medii.<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Interven\u021bia chirurgical\u0103, cu o bun\u0103 monitorizare, poate adesea s\u0103 atenueze poten\u021biala letalitate (ca \u00een cazul malforma\u021biilor cardiace congenitale) sau morbiditatea asociate cu malforma\u021biile congenitale structurale. Rezultatele sunt \u00eembun\u0103t\u0103\u021bite prin depistarea timpurie \u0219i tratamentul unor probleme precum defectele cardiace.<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Tratamentul medical pentru anumite afec\u021biuni metabolice, endocrine \u0219i hematologice poate \u00eembun\u0103t\u0103\u021bi calitatea vie\u021bii. Un exemplu clar este hipotiroidismul congenital, \u00een cazul c\u0103ruia depistarea \u0219i tratamentul precoce permit o dezvoltare fizic\u0103 \u0219i mental\u0103 complet\u0103 p\u00e2n\u0103 la o v\u00e2rst\u0103 adult\u0103 s\u0103n\u0103toas\u0103, \u00een timp ce un diagnostic ratat sau indisponibilitatea unui tratament simplu comport\u0103 riscul unei dizabilit\u0103\u021bi intelectuale grave.<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Copiii cu anumite tipuri de malforma\u021bii congenitale pot avea nevoie de sprijin pe termen lung, inclusiv terapie fizic\u0103, logopedie, terapie ocupa\u021bional\u0103 \u0219i sprijin din partea familiei \u0219i a comunit\u0103\u021bii.<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Op\u021biunile de tratament variaz\u0103 \u00een func\u021bie de afec\u021biune \u0219i de nivelul de gravitate. Unele malforma\u021bii congenitale pot fi corectate \u00eenainte de na\u0219tere sau la scurt timp dup\u0103 na\u0219tere. Cu toate acestea, alte defecte pot afecta un copil pentru tot restul vie\u021bii sale. Defectele u\u0219oare pot fi stresante, dar de obicei nu afecteaz\u0103 calitatea general\u0103 a vie\u021bii. Defectele congenitale grave, cum ar fi paralizia cerebral\u0103 sau spina bifida, pot provoca dizabilit\u0103\u021bi pe termen lung sau chiar decesul.<\/span><\/p>\n<p><b>Medicamentele<\/b><span style=\"font-weight: 400;\"> pot fi utilizate pentru a trata unele malforma\u021bii congenitale sau pentru a reduce riscul de complica\u021bii cauzate de anumite malforma\u021bii. \u00cen unele cazuri, medicamentele pot fi prescrise mamei pentru a ajuta la corectarea unei anomalii \u00eenainte de na\u0219tere.<\/span><\/p>\n<p><b>Interven\u021biile chirurgicale<\/b><span style=\"font-weight: 400;\"> pot repara anumite defecte sau pot atenua simptomele d\u0103un\u0103toare. Unele persoane cu malforma\u021bii fizice din na\u0219tere, cum ar fi buza despicat\u0103, pot fi supuse unei opera\u021bii de chirurgie plastic\u0103, fie pentru s\u0103n\u0103tate, fie pentru beneficii cosmetice. Mul\u021bi copii cu defecte cardiace vor avea nevoie, de asemenea, de interven\u021bii chirurgicale.<\/span><\/p>\n<h2><span class=\"ez-toc-section\" id=\"Malformatii_congenitale_%E2%80%93_depistare_preventie_si_screening\"><\/span><span style=\"font-weight: 400;\">Malforma\u021bii congenitale &#8211; depistare, preven\u021bie \u0219i screening<\/span><span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-full wp-image-4424\" src=\"https:\/\/infosan.ro\/wp-content\/uploads\/5-malformatii-congenitale.jpg\" alt=\"malformatii congenitale\" width=\"1200\" height=\"800\"><\/p>\n<p><span style=\"font-weight: 400;\">Multe malforma\u021bii congenitale nu pot fi prevenite, dar exist\u0103 c\u00e2teva modalit\u0103\u021bi de a reduce riscul de a avea un copil cu o malforma\u021bie congenital\u0103. Femeile care inten\u021bioneaz\u0103 s\u0103 r\u0103m\u00e2n\u0103 \u00eens\u0103rcinate ar trebui s\u0103 \u00eenceap\u0103 s\u0103 ia suplimente de acid folic \u00eenc\u0103 dinainte de concep\u021bie. Aceste suplimente ar trebui s\u0103 fie luate, de asemenea, pe toat\u0103 durata sarcinii. Acidul folic poate ajuta la prevenirea defectelor de la nivelul coloanei vertebrale \u0219i al creierului. Vitaminele prenatale sunt, de asemenea, recomandate \u00een timpul sarcinii.<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Alte malforma\u021bii congenitale pot fi prevenite. Vaccinarea, aportul adecvat de iod prin \u00eembog\u0103\u021birea alimentelor de baz\u0103 sau prin suplimentarea acestora \u0219i \u00eengrijirea adecvat\u0103 \u00eenainte \u0219i \u00een timpul sarcinii sunt alte exemple de metode de preven\u021bie.<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Femeile ar trebui s\u0103 evite alcoolul, drogurile \u0219i tutunul \u00een timpul sarcinii \u0219i \u00een perioada al\u0103pt\u0103rii. De asemenea, acestea ar trebui s\u0103 fie prudente atunci c\u00e2nd iau anumite medicamente. Unele medicamente care \u00een mod normal sunt sigure pot provoca defecte congenitale grave atunci c\u00e2nd sunt luate de o femeie \u00eens\u0103rcinat\u0103.<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Majoritatea vaccinurilor sunt sigure \u00een timpul sarcinii. De fapt, unele vaccinuri pot ajuta la prevenirea malforma\u021biilor congenitale. Exist\u0103 un risc teoretic de v\u0103t\u0103mare a f\u0103tului \u00een curs de dezvoltare \u00een cazul unor vaccinuri cu virus viu, astfel \u00eenc\u00e2t aceste tipuri de vaccinuri nu trebuie administrate \u00een timpul sarcinii.<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Men\u021binerea unei greut\u0103\u021bi s\u0103n\u0103toase ajut\u0103, de asemenea, la reducerea riscului de complica\u021bii \u00een timpul sarcinii. Femeile cu afec\u021biuni preexistente, cum ar fi diabetul, ar trebui s\u0103 aib\u0103 grij\u0103 \u00een mod special s\u0103 \u00ee\u0219i gestioneze s\u0103n\u0103tatea.<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Speciali\u0219tii \u00een politici de s\u0103n\u0103tate public\u0103 au identificat c\u00e2teva m\u0103suri principale necesare pentru a diminua frecven\u021ba anumitor malforma\u021bii congenitale prin eliminarea factorilor de risc sau prin sporirea protec\u021biei:<\/span><\/p>\n<ul>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">asigurarea faptului c\u0103 popula\u021bia poate avea acces la o diet\u0103 s\u0103n\u0103toas\u0103, inclusiv la o mare varietate de legume \u0219i fructe \u0219i c\u0103 \u00ee\u0219i men\u021bin o greutate s\u0103n\u0103toas\u0103;<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">asigurarea unui aport alimentar adecvat de vitamine \u0219i minerale, \u00een special de acid folic la mamele adolescente;<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">asigurarea faptului c\u0103 mamele evit\u0103 substan\u021bele nocive, \u00een special drogurile, alcoolul \u0219i tutunul;<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">evitarea c\u0103l\u0103toriilor femeilor \u00eens\u0103rcinate (\u0219i, uneori, a femeilor aflate la v\u00e2rsta fertil\u0103) \u00een regiunile care se confrunt\u0103 cu focare de infec\u021bii cunoscute ca fiind asociate cu malforma\u021bii congenitale;<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">reducerea sau eliminarea expunerii popula\u021biei la substan\u021be periculoase din mediu (cum ar fi metalele grele sau pesticidele) \u00een timpul sarcinii;<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">controlul diabetului \u00eenainte \u0219i \u00een timpul sarcinii prin consiliere, controlul greut\u0103\u021bii, regim alimentar \u0219i administrarea de insulin\u0103 atunci c\u00e2nd este necesar;<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">asigurarea faptului c\u0103 orice expunere a femeilor \u00eens\u0103rcinate la medicamente sau la radia\u021bii medicale (cum ar fi cele provocate de unele investiga\u021bii imagistice) este justificat\u0103 \u0219i se bazeaz\u0103 pe o analiz\u0103 atent\u0103 a raportului risc-beneficiu pentru s\u0103n\u0103tate;<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">vaccinarea, \u00een special \u00eempotriva virusului rubeolei, pentru copii \u0219i femei;<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">cre\u0219terea \u0219i consolidarea educa\u021biei personalului medical \u0219i a altor persoane implicate \u00een promovarea prevenirii anomaliilor congenitale;<\/span><\/li>\n<li style=\"font-weight: 400;\" aria-level=\"1\"><span style=\"font-weight: 400;\">depistarea infec\u021biilor, \u00een special a rubeolei, a varicelei \u0219i a sifilisului, \u0219i aplicarea tratamentului necesar \u00een timp util.<\/span><\/li>\n<\/ul>\n<p><span style=\"font-weight: 400;\">Asisten\u021ba medical\u0103 \u00eenainte \u0219i \u00een apropierea concep\u021biei include practici de baz\u0103 \u00een materie de s\u0103n\u0103tate a reproducerii, precum \u0219i depistarea \u0219i consilierea genetic\u0103 medical\u0103.<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Screeningul poate fi efectuat \u00een timpul celor 3 perioade enumerate:<\/span><\/p>\n<p><b>Screening preconcep\u021bional. <\/b><span style=\"font-weight: 400;\">Acesta poate fi util pentru a identifica persoanele cu risc de a suferi de anumite tulbur\u0103ri sau de a transmite o tulburare copiilor lor. Screeningul include ob\u021binerea istoricului familial \u0219i depistarea purt\u0103torilor \u0219i este deosebit de valoros \u00een \u021b\u0103rile \u00een care c\u0103s\u0103toriile consangvine sunt frecvente.<\/span><\/p>\n<p><b>Screeningul periconcep\u021bional<\/b><span style=\"font-weight: 400;\">. Caracteristicile materne pot cre\u0219te riscul, iar rezultatele screeningului ar trebui utilizate pentru a oferi \u00eengrijiri adecvate, \u00een func\u021bie de risc. Acest lucru poate include depistarea v\u00e2rstei materne tinere sau avansate, precum \u0219i depistarea consumului de alcool, tutun sau a altor riscuri. Ecografia poate fi utilizat\u0103 pentru depistarea sindromului Down \u0219i a anomaliilor structurale majore \u00een timpul primului trimestru \u0219i a anomaliilor fetale severe \u00een timpul celui de-al doilea trimestru. S\u00e2ngele matern poate fi analizat pentru markerii placentari pentru a ajuta la predic\u021bia riscului de anomalii cromozomiale sau defecte ale tubului neural, sau pentru ADN fetal liber pentru a depista numeroase anomalii cromozomiale. Testele de diagnostic, cum ar fi prelevarea de probe de vilozit\u0103\u021bi coriale \u0219i amniocenteza, pot fi utilizate pentru a diagnostica anomaliile cromozomiale \u0219i infec\u021biile la femeile cu risc ridicat.<\/span><\/p>\n<p><b>Screeningul neonatal<\/b><span style=\"font-weight: 400;\">. Screeningul nou-n\u0103scu\u021bilor este un pas important \u00een vederea depist\u0103rii. Aceasta contribuie la reducerea mortalit\u0103\u021bii \u0219i a morbidit\u0103\u021bii cauzate de malforma\u021biile congenitale, facilit\u00e2nd ini\u021bierea unui tratament medical sau chirurgical.<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Spre exemplu, depistarea timpurie a hipoacuziei sau a <\/span><a href=\"https:\/\/infosan.ro\/noutati\/copilul-meu-vede-bine\/\"><span style=\"font-weight: 400;\">problemelor oftalmologice la nou-n\u0103scu\u021bi<\/span><\/a><span style=\"font-weight: 400;\"> ofer\u0103 o oportunitate de corec\u021bie timpurie \u0219i permite posibilitatea dob\u00e2ndirii unor abilit\u0103\u021bi mai bune de interac\u021bionare, comunicare \u0219i orientare \u00een spa\u021biu. De asemenea, depistarea timpurie a <\/span><a href=\"https:\/\/infosan.ro\/noutati\/principalele-cauze-ale-cataractei-congenitale\/\"><span style=\"font-weight: 400;\">cauzelor cataractei congenitale<\/span><\/a><span style=\"font-weight: 400;\"> (po\u021bi citi aici mai multe despre <\/span><a href=\"https:\/\/infosan.ro\/operatie-cataracta-congenitala\/\"><span style=\"font-weight: 400;\">opera\u021bia de cataract\u0103 congenital\u0103<\/span><\/a><span style=\"font-weight: 400;\">) la nou-n\u0103scu\u021bi permite o abordare terapeutic\u0103 timpurie, ceea ce cre\u0219te probabilitatea de a vedea bine. De asemenea, tratamentul <\/span><a href=\"https:\/\/infosan.ro\/noutati\/la-copil-tratamentul-glaucomului-este-chirurgical\/\"><span style=\"font-weight: 400;\">glaucomului congenital<\/span><\/a><span style=\"font-weight: 400;\"> trebuie abordat din timp, iar interven\u021bia chirurgical\u0103 trebuie realizat\u0103 de c\u0103tre speciali\u0219ti!<\/span><\/p>\n<p><span style=\"font-weight: 400;\">La nou-n\u0103scu\u021bi pot fi depistate cu mai mult\u0103 u\u0219urin\u021b\u0103 anumite tulbur\u0103ri metabolice, hematologice \u0219i endocrine, chiar dac\u0103 multe dintre acestea pot s\u0103 nu aib\u0103 efecte vizibile imediat. Afec\u021biunile depistate variaz\u0103 \u00een func\u021bie de \u021bar\u0103, \u00een func\u021bie de prevalen\u021b\u0103 \u0219i de costuri. Screeningul nou-n\u0103scu\u021bilor se efectueaz\u0103 din ce \u00een ce mai des chiar \u0219i \u00een \u021b\u0103rile cu venituri mici \u0219i medii. \u00cens\u0103, toate tipurile de screening sunt recomandate tuturor femeilor \u00eens\u0103rcinate, dat fiind c\u0103 \u0219tiin\u021ba \u0219i tehnologia ofer\u0103 solu\u021bii din ce \u00een ce mai performante.<\/span><span style=\"font-weight: 400;\">&nbsp;<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Referin\u021be:<\/span><\/p>\n<p><a href=\"https:\/\/www.who.int\/news-room\/fact-sheets\/detail\/birth-defects\"><span style=\"font-weight: 400;\">https:\/\/www.who.int\/news-room\/fact-sheets\/detail\/birth-defects<\/span><\/a><\/p>\n<p><a href=\"https:\/\/www.healthline.com\/health\/birth-defects\"><span style=\"font-weight: 400;\">https:\/\/www.healthline.com\/health\/birth-defects<\/span><\/a><\/p>\n<p><span style=\"font-weight: 400;\">Sursa foto: Pixabay.com<\/span><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Malforma\u021biile congenitale provoac\u0103 la nivel mondial circa 240 000 de decese ale nou-n\u0103scu\u021bilor \u00een prima lun\u0103 de via\u021b\u0103, conform statisticilor Organiza\u021biei Mondiale a S\u0103n\u0103t\u0103\u021bii. De asemenea, alte 170 000 de decese sunt \u00eenregistrate anual din acelea\u0219i cauze, la copii cu v\u00e2rsta cuprins\u0103 \u00eentre 1 lun\u0103 \u0219i 5 ani. Dintre acestea, 9 din 10 cazuri se [&hellip;]<\/p>\n","protected":false},"author":2,"featured_media":3472,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[16],"tags":[],"class_list":["post-3467","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-noutati"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v26.8 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Malforma\u021biile congenitale \u2013 Cauze, tratament \u0219i metode precoce de depistare \u00bb - Infosan.ro<\/title>\n<meta name=\"description\" content=\"Descopera mai multe despre \u279c Malforma\u021biile congenitale \u2013 Cauze, tratament \u0219i metode precoce de depistare \u2705 Sfaturi &amp; Recomandari de la specialisti \u27a4Citeste articolul pe Blogul Infosan\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/infosan.ro\/noutati\/malformatiile-congenitale-cauze-tratament-si-metode-precoce-de-depistare\/\" \/>\n<meta property=\"og:locale\" content=\"ro_RO\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Malforma\u021biile congenitale \u2013 Cauze, tratament \u0219i metode precoce de depistare \u00bb - 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