{"id":1020,"date":"2022-02-03T10:15:00","date_gmt":"2022-02-03T10:15:00","guid":{"rendered":"https:\/\/doctortom.ro\/?p=1020"},"modified":"2022-02-03T20:51:34","modified_gmt":"2022-02-03T20:51:34","slug":"de-la-gene-genetica-la-geneza-lui-doctor-tom","status":"publish","type":"post","link":"https:\/\/doctortom.ro\/en\/de-la-gene-genetica-la-geneza-lui-doctor-tom\/","title":{"rendered":"De la GENE, GENETIC\u0102 \u2026 la GENEZA lui Doctor Tom!"},"content":{"rendered":"[et_pb_section fb_built=&#8221;1&#8243; admin_label=&#8221;section&#8221; _builder_version=&#8221;3.22&#8243; global_colors_info=&#8221;{}&#8221;][et_pb_row admin_label=&#8221;row&#8221; _builder_version=&#8221;3.25&#8243; background_size=&#8221;initial&#8221; background_position=&#8221;top_left&#8221; background_repeat=&#8221;repeat&#8221; global_colors_info=&#8221;{}&#8221;][et_pb_column type=&#8221;4_4&#8243; _builder_version=&#8221;3.25&#8243; custom_padding=&#8221;|||&#8221; global_colors_info=&#8221;{}&#8221; custom_padding__hover=&#8221;|||&#8221;][et_pb_text admin_label=&#8221;Text&#8221; _builder_version=&#8221;3.27.4&#8243; background_size=&#8221;initial&#8221; background_position=&#8221;top_left&#8221; background_repeat=&#8221;repeat&#8221; global_colors_info=&#8221;{}&#8221;]\n<h5 class=\"wp-block-heading\" id=\"doctor-tom-\u0219i-dr-delia-sabau-medic-specialist-in-genetica-medicala-singurul-medic-din-bucure\u0219ti-care-reprezinta-romania-in-ebmg-european-board-of-medical-genetics-bordul-european-de-genetica-medicala\"><strong>Doctor Tom \u0219i Dr. Delia Sab\u0103u<\/strong> \u2013 <strong>Medic specialist \u00een genetic\u0103 medical\u0103, singurul medic din Bucure\u0219ti care reprezint\u0103 Rom\u00e2nia \u00een EBMG &#8211; European Board of Medical Genetics \u2013 Bordul European de Genetic\u0103 Medical\u0103<\/strong><\/h5>\n\n\n\n<div class=\"wp-block-image is-style-default\"><figure class=\"aligncenter size-large is-resized\"><img decoding=\"async\" src=\"https:\/\/doctortom.ro\/wp-content\/uploads\/2021\/12\/poza-articol-1-1024x819.png\" alt=\"\" class=\"wp-image-1133\" width=\"984\" height=\"787\" srcset=\"https:\/\/doctortom.ro\/wp-content\/uploads\/2021\/12\/poza-articol-1-980x784.png 980w, https:\/\/doctortom.ro\/wp-content\/uploads\/2021\/12\/poza-articol-1-480x384.png 480w\" sizes=\"(min-width: 0px) and (max-width: 480px) 480px, (min-width: 481px) and (max-width: 980px) 980px, (min-width: 981px) 984px, 100vw\" \/><\/figure><\/div>\n\n\n\n<p class=\"wp-block-paragraph\">Organismele vii depind de gene.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Genetica este \u0219tiin\u021ba care studiaz\u0103 fenomenele \u0219i legile eredit\u0103\u021bii.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Geneza este originea sau procesul de na\u0219tere, de formare a unei fiin\u021be sau a unui lucru.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Toate elementele duc la geneza lui Doctor Tom! Al procesului de creare a primei selec\u021bii multi brand premium \u00eentr-un concept ce con\u021bine kit pentru bebelu\u0219i. Cu acces la s\u0103n\u0103tate \u0219i educa\u021bie.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Misiunea este orientat\u0103 spre cultur\u0103 organic\u0103, inovand \u00eentr-o manier\u0103 natural\u0103.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Ce este specializarea Genetic\u0103 Medical\u0103?<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Genetica este specialitatea medical\u0103 care st\u0103 la baza tuturor celorlalte specialit\u0103\u021bi, oferind imagini de ansamblu asupra pacientului \u0219i explic\u00e2nd multe dintre cauzele considerate p\u00e2n\u0103 nu demult \u201eidiopatice\u201d sau necunoscute ale bolilor. Un medic genetician consult\u0103 pacientul \u0219i \u00eentreaga lui familie, oferind sfatul genetic \u0219i managementul ulterior al cazului. Frumuse\u021bea e c\u0103 un medic genetician nu \u0219tie la ce s\u0103 se a\u0219tepte \u00een ceea ce prive\u0219te pacientul care \u00eei va intra pe u\u0219\u0103, av\u00e2nd pacien\u021bi de la nou-n\u0103scu\u021bi, femei \u00eens\u0103rcinate sau cupluri. Un medic genetician ofer\u0103 consult genetic pentru situa\u021bii foarte diverse precum defecte \u00eenn\u0103scute \u00eencadrabile sau nu \u00eentr-un anumit tip de sindrom, boli mo\u0219tenite (ereditare), cancere, tulbur\u0103ri de sexualizare, infertilitate \u0219i chiar nutri\u021bie personalizat\u0103.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>De ce ai ales aceast\u0103 specializare?<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Eram anul 6 la facultate \u0219i am participat la o conferin\u021b\u0103 interna\u021bional\u0103, g\u0103zduit\u0103 de UMF Carol Davila, unde a venit un medic str\u0103in. El sus\u021binea c\u0103 medicina viitorului e medicina personalizat\u0103, bazat\u0103 pe dovezi, a explicat pu\u021bin de terapii \u021bintite, moleculare, care pot salva foarte mul\u021bi pacien\u021bi. A mai vorbit \u0219i de medicin\u0103 preventiv\u0103, despre care noi \u00eenv\u0103\u021b\u0103m foarte pu\u021bin \u00een facultate \u0219i se aplic\u0103 \u0219i mai pu\u021bin \u00een c\u00e2mpul muncii \u0219i despre cum ea poate face ca durata \u0219i calitatea vie\u021bii noastre s\u0103 creasc\u0103 exponen\u021bial \u0219i s\u0103 se economiseasc\u0103 mul\u021bi bani \u00een tehnicile na\u021bionale de preven\u021bie.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Mi-a sur\u00e2s foarte mult aceast\u0103 idee \u0219i m-am \u00eendr\u0103gostit pe loc de acest \u00eentreg concept de \u201etrat\u0103m fiecare pacient \u00een parte, fiecare familie e unic\u0103\u201d, exact ce \u00eenseamn\u0103 Genetic\u0103 Medical\u0103. A fost prima op\u021biune la reziden\u021biat \u0219i singur\u0103, spre \u00eengrijorarea familiei, care \u0219tia c\u0103 dac\u0103 nu \u201eapuc\u201d aceast\u0103 specializare la reziden\u021biat, aveam s\u0103 a\u0219tept un an, doi, sau c\u00e2t era necesar. A fost \u0219i sortit probabil s\u0103 pot alege din prima ce-mi doream \u0219i iat\u0103-m\u0103 medic specialist, dovedindu-se a fi o idee foarte bun\u0103, de suflet, asumat\u0103, pe via\u021b\u0103.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Cum de ai ales s\u0103 r\u0103m\u00e2i \u00een Rom\u00e2nia?<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">E grea \u00eentrebarea, din ce \u00een ce mai grea cu fiecare an care trece de la momentul deciziei. Am avut o oferta de lucru \u00een San Francisco, de la un profesor doctor renumit, care voia s\u0103-i fiu reziden\u021b\u0103, dar \u021bara noastr\u0103 m\u0103 \u021binea mai tare aici. C\u00e2nd o s\u0103 \u0219tiu de ce, o s\u0103 va spun \ud83d\ude0a.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>C\u00e2nd e necesar s\u0103 mergem la medicul genetician?<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Indica\u021biile sunt pentru diversele etape ale vie\u021bii: preconceptional, adic\u0103 \u00eenaintea ob\u021binerii unei sarcini, se face un consult genetic \u0219i se poate testa statusul de purt\u0103tor al fiec\u0103rui p\u0103rinte \u00een parte pentru bolile recesive, cele care se pot manifesta la descenden\u021bi chiar dac\u0103 p\u0103rin\u021bii lor sunt purt\u0103tori s\u0103n\u0103to\u0219i. Copilul a doi p\u0103rin\u021bi purt\u0103tori de astfel de gene poate fi bolnav atunci c\u00e2nd mo\u0219tene\u0219te c\u00e2te o gena mutant\u0103 de la ambii p\u0103rin\u021bi, situa\u021bie cu \u0219anse de 25% (1 din 4) pentru fiecare sarcina \u00een parte.&nbsp; Exemple de boli recesive sunt: fibroz\u0103 chistic\u0103, sferocitoza, siclemia, Tay Sachs, Gaucher, hipoacuzia.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Se indic\u0103 o vizit\u0103 la medicul genetician \u0219i \u00een cazul cuplurilor consangvine, cuplurilor care se preg\u0103tesc s\u0103 ob\u021bin\u0103 o sarcin\u0103 \u0219i partenera are peste 35 ani, iar partenerul are peste 40-45 ani, \u00een cazul persoanelor cu istoric familial de boal\u0103 genetic\u0103, mor\u021bi subite la v\u00e2rste tinere,&nbsp; a cuplurilor care au unul sau mai mul\u021bi copii cu un defect \u00eenn\u0103scut, \u00eent\u00e2rziere global\u0103 de dezvoltare, dizabilitate intelectual\u0103 sau o boal\u0103 genetic\u0103 cunoscut\u0103.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Consultul la medicul genetician este recomandat \u0219i cuplurilor \u00een care exist\u0103 2 sau mai multe pierderi de sarcin\u0103, avorturi spontane, \u00eenaintea ini\u021bierii procedeului de fertilizare \u00een vitro sau persoanelor care au fost expuse la diver\u0219i agen\u021bi teratogeni.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Prenatal indica\u021bia de baza pentru consult genetic este atunci c\u00e2nd pacienta \u00eens\u0103rcinat\u0103 are \u201esemne de alarm\u0103\u201d la ecografie \u0219i\/sau la dublul test. \u00cen restul cazurilor este de preferat c\u0103 \u00een afar\u0103 de screeningul ecografic efectuat de medicul obstetrician s\u0103 se fac\u0103 un test non-invaziv prenatal. Acest test const\u0103 \u00een recoltarea s\u00e2ngelui pacientei \u00eens\u0103rcinate, prin care circul\u0103 ADN fetal. Cu ajutorul acestuia se afl\u0103 informa\u021bii precum sexul fetal, num\u0103rul de cromozomi ai f\u0103tului, avertiz\u00e2ndu-ne astfel despre posibilele aneuploidii, sau modific\u0103ri ale num\u0103rului cromozomilor, precum: sindromul Down (trisomia 21), sindromul Edwards (trisomia 18), sindromul Patau (trisomia 13),&nbsp; sindroame de microdeletii sau microduplicatii. \u00cen cazul \u00een care testele non-invazive prenatale au risc crescut, atunci este necesar diagnosticul prenatal, adic\u0103 recoltarea de vilozit\u0103\u021bi coriale sau lichid amniotic din care mai apoi putem efectua cariotip clasic, molecular sau chiar secventierea \u00eentregului exom. Toate aceste analize genetice sunt foarte utile \u00een cazurile selec\u021bionate, aduc\u00e2nd familiei&nbsp; \u0219i medicilor informa\u021biile necesare pentru managementul ulterior.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u00cen cazul nou-n\u0103scu\u021bilor se solicit\u0103 consult genetic \u00een cazul \u00een care ace\u0219tia prezint\u0103 un defect la na\u0219tere, precum despic\u0103tur\u0103 labial\u0103, palatin\u0103, sp\u00een\u0103 bifida, malforma\u021bii cardiace, sau orice alt tip de malforma\u021bie congenital\u0103, dismorfism cranio-facial, \u00eent\u00e2rziere global\u0103 \u00een dezvoltare, defecte metabolice.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Unde te pot g\u0103si pacien\u021bii?<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u00cen Bucure\u0219ti, la clinica Personal Genetics din sectorul 1, strada Frumoas\u0103 4.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Un cuv\u00e2nt de \u00eencheiere?<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">M\u0103 bucur mult s\u0103 fac parte din familia Doctor Tom, s\u0103 sus\u021bin aceast\u0103 ini\u021biativa extraordinar\u0103. S\u0103 putem construi \u00eempreun\u0103 materiale de impact destinate genera\u021biilor viitoare.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Sunt enorm de fericit\u0103 c\u0103 tr\u0103iesc pe p\u0103m\u00e2nt \u00een aceste vremuri c\u00e2nd foarte multe boli cu determinism genetic se pot preveni sau trata \u021bintit. M\u0103 implic mult \u00een rela\u021bia cu pacientul, \u00eemi place c\u0103 acesta s\u0103 \u00een\u021beleag\u0103 informa\u021biile ce reies din consultul genetic \u0219i \u00eemi doresc s\u0103 ajut c\u00e2t mai mul\u021bi pacien\u021bi \u0219i familiile lor.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Dr. Delia Sab\u0103u este singurul medic din Bucure\u0219ti care reprezint\u0103 Rom\u00e2nia \u00een EBMG -European Board of Medical Genetics \u2013 Bordul European de Genetic\u0103 Medical\u0103.<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><br>Printre altele este \u0219i:<br>&#8211;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp; membru din Comitetul ESHG-Y \u2013 European Society of Medical Genetics -Y Committee<br>&#8211;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp; membru al SRGM -Societatea Rom\u00e2n\u0103 de Genetic\u0103 Medical\u0103<br>&#8211;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp; membru al ASHG \u2013 Societatea American\u0103 de Genetic\u0103 Uman\u0103<\/p>\n[\/et_pb_text][\/et_pb_column][\/et_pb_row][\/et_pb_section]","protected":false},"excerpt":{"rendered":"<p>Doctor Tom \u0219i Dr. Delia Sab\u0103u \u2013 Medic specialist \u00een genetic\u0103 medical\u0103, singurul medic din Bucure\u0219ti care reprezint\u0103 Rom\u00e2nia \u00een EBMG &#8211; European Board of Medical Genetics \u2013 Bordul European de Genetic\u0103 Medical\u0103 Organismele vii depind de gene. Genetica este \u0219tiin\u021ba care studiaz\u0103 fenomenele \u0219i legile eredit\u0103\u021bii. Geneza este originea sau procesul de na\u0219tere, de [&hellip;]<\/p>","protected":false},"author":3,"featured_media":1144,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_et_pb_use_builder":"on","_et_pb_old_content":"<!-- wp:heading {\"level\":5} -->\n<h5 id=\"doctor-tom-\u0219i-dr-delia-sabau-medic-specialist-in-genetica-medicala-singurul-medic-din-bucure\u0219ti-care-reprezinta-romania-in-ebmg-european-board-of-medical-genetics-bordul-european-de-genetica-medicala\"><strong>Doctor Tom \u0219i Dr. Delia Sab\u0103u<\/strong> \u2013 <strong>Medic specialist \u00een genetic\u0103 medical\u0103, singurul medic din Bucure\u0219ti care reprezint\u0103 Rom\u00e2nia \u00een EBMG - European Board of Medical Genetics \u2013 Bordul European de Genetic\u0103 Medical\u0103<\/strong><\/h5>\n<!-- \/wp:heading -->\n\n<!-- wp:image {\"align\":\"center\",\"id\":1133,\"width\":984,\"height\":787,\"sizeSlug\":\"large\",\"linkDestination\":\"none\",\"className\":\"is-style-default\"} -->\n<div class=\"wp-block-image is-style-default\"><figure class=\"aligncenter size-large is-resized\"><img src=\"https:\/\/doctortom.ro\/wp-content\/uploads\/2021\/12\/poza-articol-1-1024x819.png\" alt=\"\" class=\"wp-image-1133\" width=\"984\" height=\"787\"\/><\/figure><\/div>\n<!-- \/wp:image -->\n\n<!-- wp:paragraph -->\n<p>Organismele vii depind de gene.<\/p>\n<!-- \/wp:paragraph -->\n\n<!-- wp:paragraph -->\n<p>Genetica este \u0219tiin\u021ba care studiaz\u0103 fenomenele \u0219i legile eredit\u0103\u021bii.<\/p>\n<!-- \/wp:paragraph -->\n\n<!-- wp:paragraph -->\n<p>Geneza este originea sau procesul de na\u0219tere, de formare a unei fiin\u021be sau a unui lucru.<\/p>\n<!-- \/wp:paragraph -->\n\n<!-- wp:paragraph -->\n<p>Toate elementele duc la geneza lui Doctor Tom! Al procesului de creare a primei selec\u021bii multi brand premium \u00eentr-un concept ce con\u021bine kit pentru bebelu\u0219i. Cu acces la s\u0103n\u0103tate \u0219i educa\u021bie.<\/p>\n<!-- \/wp:paragraph -->\n\n<!-- wp:paragraph -->\n<p>Misiunea este orientat\u0103 spre cultur\u0103 organic\u0103, inovand \u00eentr-o manier\u0103 natural\u0103.<\/p>\n<!-- \/wp:paragraph -->\n\n<!-- wp:paragraph -->\n<p><\/p>\n<!-- \/wp:paragraph -->\n\n<!-- wp:paragraph -->\n<p><strong>Ce este specializarea Genetic\u0103 Medical\u0103?<\/strong><\/p>\n<!-- \/wp:paragraph -->\n\n<!-- wp:paragraph -->\n<p>Genetica este specialitatea medical\u0103 care st\u0103 la baza tuturor celorlalte specialit\u0103\u021bi, oferind imagini de ansamblu asupra pacientului \u0219i explic\u00e2nd multe dintre cauzele considerate p\u00e2n\u0103 nu demult \u201eidiopatice\u201d sau necunoscute ale bolilor. Un medic genetician consult\u0103 pacientul \u0219i \u00eentreaga lui familie, oferind sfatul genetic \u0219i managementul ulterior al cazului. Frumuse\u021bea e c\u0103 un medic genetician nu \u0219tie la ce s\u0103 se a\u0219tepte \u00een ceea ce prive\u0219te pacientul care \u00eei va intra pe u\u0219\u0103, av\u00e2nd pacien\u021bi de la nou-n\u0103scu\u021bi, femei \u00eens\u0103rcinate sau cupluri. Un medic genetician ofer\u0103 consult genetic pentru situa\u021bii foarte diverse precum defecte \u00eenn\u0103scute \u00eencadrabile sau nu \u00eentr-un anumit tip de sindrom, boli mo\u0219tenite (ereditare), cancere, tulbur\u0103ri de sexualizare, infertilitate \u0219i chiar nutri\u021bie personalizat\u0103.<\/p>\n<!-- \/wp:paragraph -->\n\n<!-- wp:paragraph -->\n<p><strong>De ce ai ales aceast\u0103 specializare?<\/strong><\/p>\n<!-- \/wp:paragraph -->\n\n<!-- wp:paragraph -->\n<p>Eram anul 6 la facultate \u0219i am participat la o conferin\u021b\u0103 interna\u021bional\u0103, g\u0103zduit\u0103 de UMF Carol Davila, unde a venit un medic str\u0103in. El sus\u021binea c\u0103 medicina viitorului e medicina personalizat\u0103, bazat\u0103 pe dovezi, a explicat pu\u021bin de terapii \u021bintite, moleculare, care pot salva foarte mul\u021bi pacien\u021bi. A mai vorbit \u0219i de medicin\u0103 preventiv\u0103, despre care noi \u00eenv\u0103\u021b\u0103m foarte pu\u021bin \u00een facultate \u0219i se aplic\u0103 \u0219i mai pu\u021bin \u00een c\u00e2mpul muncii \u0219i despre cum ea poate face ca durata \u0219i calitatea vie\u021bii noastre s\u0103 creasc\u0103 exponen\u021bial \u0219i s\u0103 se economiseasc\u0103 mul\u021bi bani \u00een tehnicile na\u021bionale de preven\u021bie.<\/p>\n<!-- \/wp:paragraph -->\n\n<!-- wp:paragraph -->\n<p>Mi-a sur\u00e2s foarte mult aceast\u0103 idee \u0219i m-am \u00eendr\u0103gostit pe loc de acest \u00eentreg concept de \u201etrat\u0103m fiecare pacient \u00een parte, fiecare familie e unic\u0103\u201d, exact ce \u00eenseamn\u0103 Genetic\u0103 Medical\u0103. A fost prima op\u021biune la reziden\u021biat \u0219i singur\u0103, spre \u00eengrijorarea familiei, care \u0219tia c\u0103 dac\u0103 nu \u201eapuc\u201d aceast\u0103 specializare la reziden\u021biat, aveam s\u0103 a\u0219tept un an, doi, sau c\u00e2t era necesar. A fost \u0219i sortit probabil s\u0103 pot alege din prima ce-mi doream \u0219i iat\u0103-m\u0103 medic specialist, dovedindu-se a fi o idee foarte bun\u0103, de suflet, asumat\u0103, pe via\u021b\u0103.<\/p>\n<!-- \/wp:paragraph -->\n\n<!-- wp:paragraph -->\n<p><strong>Cum de ai ales s\u0103 r\u0103m\u00e2i \u00een Rom\u00e2nia?<\/strong><\/p>\n<!-- \/wp:paragraph -->\n\n<!-- wp:paragraph -->\n<p>E grea \u00eentrebarea, din ce \u00een ce mai grea cu fiecare an care trece de la momentul deciziei. Am avut o oferta de lucru \u00een San Francisco, de la un profesor doctor renumit, care voia s\u0103-i fiu reziden\u021b\u0103, dar \u021bara noastr\u0103 m\u0103 \u021binea mai tare aici. C\u00e2nd o s\u0103 \u0219tiu de ce, o s\u0103 va spun \ud83d\ude0a.<\/p>\n<!-- \/wp:paragraph -->\n\n<!-- wp:paragraph -->\n<p><strong>C\u00e2nd e necesar s\u0103 mergem la medicul genetician?<\/strong><\/p>\n<!-- \/wp:paragraph -->\n\n<!-- wp:paragraph -->\n<p>Indica\u021biile sunt pentru diversele etape ale vie\u021bii: preconceptional, adic\u0103 \u00eenaintea ob\u021binerii unei sarcini, se face un consult genetic \u0219i se poate testa statusul de purt\u0103tor al fiec\u0103rui p\u0103rinte \u00een parte pentru bolile recesive, cele care se pot manifesta la descenden\u021bi chiar dac\u0103 p\u0103rin\u021bii lor sunt purt\u0103tori s\u0103n\u0103to\u0219i. Copilul a doi p\u0103rin\u021bi purt\u0103tori de astfel de gene poate fi bolnav atunci c\u00e2nd mo\u0219tene\u0219te c\u00e2te o gena mutant\u0103 de la ambii p\u0103rin\u021bi, situa\u021bie cu \u0219anse de 25% (1 din 4) pentru fiecare sarcina \u00een parte.&nbsp; Exemple de boli recesive sunt: fibroz\u0103 chistic\u0103, sferocitoza, siclemia, Tay Sachs, Gaucher, hipoacuzia.<\/p>\n<!-- \/wp:paragraph -->\n\n<!-- wp:paragraph -->\n<p>Se indic\u0103 o vizit\u0103 la medicul genetician \u0219i \u00een cazul cuplurilor consangvine, cuplurilor care se preg\u0103tesc s\u0103 ob\u021bin\u0103 o sarcin\u0103 \u0219i partenera are peste 35 ani, iar partenerul are peste 40-45 ani, \u00een cazul persoanelor cu istoric familial de boal\u0103 genetic\u0103, mor\u021bi subite la v\u00e2rste tinere,&nbsp; a cuplurilor care au unul sau mai mul\u021bi copii cu un defect \u00eenn\u0103scut, \u00eent\u00e2rziere global\u0103 de dezvoltare, dizabilitate intelectual\u0103 sau o boal\u0103 genetic\u0103 cunoscut\u0103.<\/p>\n<!-- \/wp:paragraph -->\n\n<!-- wp:paragraph -->\n<p>Consultul la medicul genetician este recomandat \u0219i cuplurilor \u00een care exist\u0103 2 sau mai multe pierderi de sarcin\u0103, avorturi spontane, \u00eenaintea ini\u021bierii procedeului de fertilizare \u00een vitro sau persoanelor care au fost expuse la diver\u0219i agen\u021bi teratogeni.<\/p>\n<!-- \/wp:paragraph -->\n\n<!-- wp:paragraph -->\n<p>Prenatal indica\u021bia de baza pentru consult genetic este atunci c\u00e2nd pacienta \u00eens\u0103rcinat\u0103 are \u201esemne de alarm\u0103\u201d la ecografie \u0219i\/sau la dublul test. \u00cen restul cazurilor este de preferat c\u0103 \u00een afar\u0103 de screeningul ecografic efectuat de medicul obstetrician s\u0103 se fac\u0103 un test non-invaziv prenatal. Acest test const\u0103 \u00een recoltarea s\u00e2ngelui pacientei \u00eens\u0103rcinate, prin care circul\u0103 ADN fetal. Cu ajutorul acestuia se afl\u0103 informa\u021bii precum sexul fetal, num\u0103rul de cromozomi ai f\u0103tului, avertiz\u00e2ndu-ne astfel despre posibilele aneuploidii, sau modific\u0103ri ale num\u0103rului cromozomilor, precum: sindromul Down (trisomia 21), sindromul Edwards (trisomia 18), sindromul Patau (trisomia 13),&nbsp; sindroame de microdeletii sau microduplicatii. \u00cen cazul \u00een care testele non-invazive prenatale au risc crescut, atunci este necesar diagnosticul prenatal, adic\u0103 recoltarea de vilozit\u0103\u021bi coriale sau lichid amniotic din care mai apoi putem efectua cariotip clasic, molecular sau chiar secventierea \u00eentregului exom. Toate aceste analize genetice sunt foarte utile \u00een cazurile selec\u021bionate, aduc\u00e2nd familiei&nbsp; \u0219i medicilor informa\u021biile necesare pentru managementul ulterior.<\/p>\n<!-- \/wp:paragraph -->\n\n<!-- wp:paragraph -->\n<p>\u00cen cazul nou-n\u0103scu\u021bilor se solicit\u0103 consult genetic \u00een cazul \u00een care ace\u0219tia prezint\u0103 un defect la na\u0219tere, precum despic\u0103tur\u0103 labial\u0103, palatin\u0103, sp\u00een\u0103 bifida, malforma\u021bii cardiace, sau orice alt tip de malforma\u021bie congenital\u0103, dismorfism cranio-facial, \u00eent\u00e2rziere global\u0103 \u00een dezvoltare, defecte metabolice.<\/p>\n<!-- \/wp:paragraph -->\n\n<!-- wp:paragraph -->\n<p><strong>Unde te pot g\u0103si pacien\u021bii?<\/strong><\/p>\n<!-- \/wp:paragraph -->\n\n<!-- wp:paragraph -->\n<p>\u00cen Bucure\u0219ti, la clinica Personal Genetics din sectorul 1, strada Frumoas\u0103 4.<\/p>\n<!-- \/wp:paragraph -->\n\n<!-- wp:paragraph -->\n<p><strong>Un cuv\u00e2nt de \u00eencheiere?<\/strong><\/p>\n<!-- \/wp:paragraph -->\n\n<!-- wp:paragraph -->\n<p>M\u0103 bucur mult s\u0103 fac parte din familia Doctor Tom, s\u0103 sus\u021bin aceast\u0103 ini\u021biativa extraordinar\u0103. S\u0103 putem construi \u00eempreun\u0103 materiale de impact destinate genera\u021biilor viitoare.<\/p>\n<!-- \/wp:paragraph -->\n\n<!-- wp:paragraph -->\n<p>Sunt enorm de fericit\u0103 c\u0103 tr\u0103iesc pe p\u0103m\u00e2nt \u00een aceste vremuri c\u00e2nd foarte multe boli cu determinism genetic se pot preveni sau trata \u021bintit. M\u0103 implic mult \u00een rela\u021bia cu pacientul, \u00eemi place c\u0103 acesta s\u0103 \u00een\u021beleag\u0103 informa\u021biile ce reies din consultul genetic \u0219i \u00eemi doresc s\u0103 ajut c\u00e2t mai mul\u021bi pacien\u021bi \u0219i familiile lor.<\/p>\n<!-- \/wp:paragraph -->\n\n<!-- wp:paragraph -->\n<p><strong>Dr. Delia Sab\u0103u este singurul medic din Bucure\u0219ti care reprezint\u0103 Rom\u00e2nia \u00een EBMG -European Board of Medical Genetics \u2013 Bordul European de Genetic\u0103 Medical\u0103.<\/strong><\/p>\n<!-- \/wp:paragraph -->\n\n<!-- wp:paragraph -->\n<p><br>Printre altele este \u0219i:<br>-&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp; membru din Comitetul ESHG-Y \u2013 European Society of Medical Genetics -Y Committee<br>-&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp; membru al SRGM -Societatea Rom\u00e2n\u0103 de Genetic\u0103 Medical\u0103<br>-&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp;&nbsp; membru al ASHG \u2013 Societatea American\u0103 de Genetic\u0103 Uman\u0103<\/p>\n<!-- \/wp:paragraph -->","_et_gb_content_width":"1200","footnotes":""},"categories":[29],"tags":[],"class_list":["post-1020","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-calatorii"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v22.4 - 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