{"id":1161,"date":"2017-04-07T22:10:58","date_gmt":"2017-04-07T20:10:58","guid":{"rendered":"http:\/\/www.newslab.sk\/2017\/04\/07\/postrehy-z-prague-spring-symposium-2016-57-a-4th-central-eastern-european-symposium-on-free-nucleic-acids-in-non-invasive-prenatal-diagnosis-minutes-from-conferences-prague-spring-symposium-2016-and-4\/"},"modified":"2017-08-27T13:30:52","modified_gmt":"2017-08-27T11:30:52","slug":"insights-form-the-prague-spring-symposium-2016-and-the-4th-central-eastern-european-symposium-on-free-nucleic-acids-in-non-invasive-prenatal-diagnosis-minutes-from-conferences-prague-spring-symposium","status":"publish","type":"post","link":"https:\/\/www.newslab.sk\/en\/insights-form-the-prague-spring-symposium-2016-and-the-4th-central-eastern-european-symposium-on-free-nucleic-acids-in-non-invasive-prenatal-diagnosis-minutes-from-conferences-prague-spring-symposium\/","title":{"rendered":"Insights form the Prague Spring Symposium 2016 and the 4th Central Eastern European Symposium on Free Nucleic Acids in Non-Invasive Prenatal Diagnosis. Minutes from Conferences Prague Spring Symposium 2016 and 4th Central Eastern European Symposium on Free Nucleic Acids in Non-Invasive Prenatal Diagnosis"},"content":{"rendered":"

Problematike \u00a0cirkuluj\u00facich buniek \u00a0plodu \u00a0a \u00a0ich \u00a0anal\u00fdze na \u00a0\u00fa\u010dely \u00a0prenat\u00e1lnej diagnostiky bolo \u00a0venovan\u00fdch nieko\u013eko predn\u00e1\u0161ok. Hoci bunky plodu boli objaven\u00e9 omnoho sk\u00f4r ako vo\u013en\u00e1 cirkuluj\u00faca \u00a0DNA plodu, ich vyu\u017eitie v diagnostike je obmedzen\u00e9. Probl\u00e9mom je najm\u00e4 \u00a0ich extr\u00e9mne n\u00edzky podiel v porovnan\u00ed s matersk\u00fdmi leukocytmi. Je ich 2 \u2013 6 kusov v 1 ml krvi. Okrem\u00a0 toho \u00a0cirkuluj\u00face \u00a0bunky poch\u00e1dzaj\u00fa najm\u00e4 \u00a0z trofoblastu placenty a v jednotliv\u00fdch \u00a0bunk\u00e1ch mo\u017eno pozorova\u0165 chromozom\u00e1lne aber\u00e1cie, ktor\u00e9 \u00a0v\u0161ak plod nem\u00e1. V s\u00fa\u010dasnosti s\u00fa cirkuluj\u00face \u00a0bunky plodu pou\u017e\u00edvan\u00e9 menej(1). Ove\u013ea rozsiahlej\u0161ie uplatnenie maj\u00fa cirkuluj\u00face tumorov\u00e9 bunky (CTC) (obr\u00e1zok \u00a01) <\/em><\/strong>pre\u00a0 r\u00f4zne \u00a0aspekty klinick\u00e9ho \u00a0mana\u017ementu pacientov s n\u00e1dorom a im bola venovan\u00e1 aj v\u00e4\u010d\u0161ina predn\u00e1\u0161ok(2). Ako svetov\u00e1 \u0161pecialistka Patrizia \u00a0Paterlini-Br\u00e9chot predn\u00e1\u0161ala, v oblasti anal\u00fdzy CTC v krvi patria tie\u017e k tzv. zriedkav\u00fdm bunk\u00e1m. Je ich priemerne okolo 1 bunky na 1 ml krvi. Preto \u00a0je potrebn\u00e9 oddeli\u0165 ich od zvy\u0161ku buniek a pr\u00e1ve \u00a0r\u00f4znym \u00a0pr\u00edstupom, dokonca automatizovan\u00fdm pr\u00edstrojom pri ich odde\u013eovan\u00ed, \u00a0sa venuje viacero \u00a0skup\u00edn. Svojou predn\u00e1\u0161kou zaujala aj Katar\u00edna Kolo\u0161tov\u00e1, Slovenka p\u00f4sobiaca \u00a0na Karlovej univerzite \u00a0v Prahe, a to jednoduch\u00fdm rie\u0161en\u00edm na odde\u013eovanie CTC na b\u00e1ze \u00a0ich odli\u0161nej ve\u013ekosti. CTC s\u00fa navy\u0161e podstatne krehkej\u0161ie, \u010do komplikuje ich n\u00e1sledn\u00e9 spracovanie \u010di anal\u00fdzy. \u00a0S\u00fa zna\u010dne heterog\u00e9nne (aj geneticky), \u010do je d\u00f4sledkom dynamick\u00e9ho a heterog\u00e9nneho charakteru n\u00e1dorov\u00e9ho tkaniva. Ich sk\u00famanie m\u00e1 v\u0161ak potenci\u00e1l pri hodnoten\u00ed \u0161t\u00e1dia n\u00e1dorov\u00e9ho ochorenia aj metastatick\u00e9ho potenci\u00e1lu \u010di ako podklad pre riadenie personalizovanej terapie. \u010eal\u0161\u00edm predn\u00e1\u0161aj\u00facim bol aj Stefan Schuster z nemeckej spolo\u010dnosti SIMFO, \u0161pecializuj\u00facej sa na anal\u00fdzy \u00a0cirkuluj\u00facich epitelov\u00fdch tumorov\u00fdch buniek, i Hannes Arnold zo Silicon Biosystems z Bologne.<\/p>\n

Druh\u00fd de\u0148 bol venovan\u00fd anal\u00fdze vo\u013enej mimobunkovej cirkuluj\u00facej \u00a0DNA prakticky \u00a0v\u00fdlu\u010dne v oblasti \u00a0prenat\u00e1lneho skr\u00edningu \u00a0na z\u00e1va\u017en\u00e9 chromozom\u00e1lne aber\u00e1cie plodu. Fang Chen zo spolo\u010dnosti BGI zo Shenzenu prezentovala sk\u00fase- nosti \u00a0a novinky v r\u00e1mci \u00a0najdlh\u0161ie pon\u00fakan\u00e9ho a najviac \u00a0roz\u0161\u00edren\u00e9ho NIPT testu v\u00f4bec \u00a0\u2013 NIFTY. Robert \u00a0Old z London School of Medicine predniesol v\u00fdsledky \u0161t\u00fadie zameranej na preverenie vhodnosti \u0161peci\u00e1lnej sch\u00e9my prenat\u00e1lneho skr\u00edningu nazvan\u00e9ho reflex DNA screening<\/em>(3). V \u0148om k\u013e\u00fa\u010dov\u00fa \u00falohu pre vybran\u00e9 \u00a0skupiny tehotn\u00fdch zohr\u00e1va pr\u00e1ve \u00a0NIPT test a preuk\u00e1zal pr\u00ednos \u00a0zaradenia met\u00f3dy v rutinnej starostlivosti o tehotn\u00e9. Ja som \u00a0predniesol na\u0161e sk\u00fasenosti s vlastn\u00fdm testom(4) po roku a podarilo \u00a0sa na spolupr\u00e1cu oslovi\u0165 dnes u\u017e partnersk\u00e9 laborat\u00f3rium v Budape\u0161ti.<\/p>\n

V chorv\u00e1tskom Splite sa koncom m\u00e1ja \u00a0konal kongres 4th Central Eastern European Symposium on Free Nucleic Acids in Non-Invasive \u00a0Prenatal Diagnosis. K\u013e\u00fa\u010dov\u00fa predn\u00e1\u0161ku mal s\u00e1m objavite\u013e \u00a0a najrenomovanej\u0161\u00ed \u0161pecialista na \u00a0t\u00e9mu \u00a0vyu\u017eitia \u00a0vo\u013enej fet\u00e1lnej \u00a0DNA plodu, profesor Dennis Lo z Chinese University v Hongkongu (obr\u00e1zok \u00a02)<\/em><\/strong>. Predn\u00e1\u0161al o no- vej met\u00f3de zalo\u017eenej na epigenomickom profilovan\u00ed, \u00a0ktor\u00e9 umo\u017e\u0148uje zisti\u0165, ak\u00fd je p\u00f4vod vo\u013ene cirkuluj\u00facej \u00a0DNA, ktor\u00fd sa ozna\u010duje ako\u00a0 tissue mapping(5). T\u00e1to \u00a0met\u00f3da n\u00e1jde \u00a0vyu- \u017eitie nielen pri prenat\u00e1lnej starostlivosti, ale aj pri tzv. tekutej biopsii n\u00e1dorov, kde bude mo\u017en\u00e9 zisti\u0165, z ktor\u00e9ho tkaniva poch\u00e1dza n\u00e1dor. \u00a0Profesor Howard Cuckle z Columbia University v New Yorku urobil podrobn\u00fd ekonomick\u00fd rozbor \u00a0r\u00f4znych sch\u00e9m uplatnenia NIPT v \u0161tandardnej zdravotnej starostlivosti. Docent Peter \u00a0Celec z Lek\u00e1rskej fakulty UK mal strhuj\u00facu predn\u00e1\u0161ku o fenom\u00e9ne preeklampsia a mo\u017enostiach vyu\u017eitia potenci\u00e1lnych cirkuluj\u00facich \u00a0markerov v krvi tehotn\u00fdch \u017eien na zistenie rizika preeklampsie(6). Profesorka Ilona Hromadn\u00edkov\u00e1 z Karlovej univerzity predn\u00e1\u0161ala o miRNA marke- roch \u00a0preeklampsie aj gesta\u010dnej hypertenzie. Tejto t\u00e9me venoval predn\u00e1\u0161ku tie\u017e Orsolya B\u00edr\u00f3 zo Semmelweis Univerzity v Budape\u0161ti. Moja predn\u00e1\u0161ka bola venovan\u00e1 aspektom zavedenia \u00a0n\u00e1\u0161ho NIPT testu na Slovensku.<\/p>\n

 <\/p>\n

Viac inform\u00e1ci\u00ed k problematike v nasleduj\u00facich odborn\u00fdch \u010dl\u00e1nkoch:<\/em><\/p>\n

Literat\u00fara<\/strong>
\n1. Fiddler M. Fetal Cell Based Prenatal Diagnosis: Perspectives on the
\nPresent and Future. Journal of Clinical Medicine 2014; 3(3): 972-985.
\n2. Paterlini-Br\u00e9chot P. Circulating Tumor Cells: Who is the Killer? Cancer
\nMicroenvironment 2014; 7(3): 161-176.
\n3. Wald NJ, Huttly WJ, Bestwick JP et al. Reflex antenatal DNA screening
\nfor Down syndrome. Prenat Diagn 2015; 35(11): 1154.
\n4. Minarik G, Repiska G, Hyblova M, et al. Utilization of Benchtop Next
\nGeneration Sequencing Platforms Ion Torrent PGM and MiSeq in Noninvasive
\nPrenatal Testing for Chromosome 21 Trisomy and Testing of Impact
\nof In Silico and Physical Size Selection on Its Analytical Performance.
\nPLoS One 2015; 10(12): e0144811.
\n5. Sun K, Jiang P, Chan KC, et al. Plasma DNA tissue mapping by genome-
\nwide methylation sequencing for noninvasive prenatal, cancer, and
\ntransplantation assessments. Proc Natl Acad Sci U S A 2015; 112(40):
\nE5503-12.
\n6. Kone\u010dn\u00e1 B, Vlkov\u00e1 B, Celec P. Role of fetal DNA in preeclampsia (review).
\nInt J Mol Med 2015; 35(2): 299-304.
\n7. Westphal M, Lamszus K. Circulating biomarkers for gliomas. Nat Rev
\nNeurol. 2015; 11(10): 556-66.<\/p>\n","protected":false},"excerpt":{"rendered":"

Problematike \u00a0cirkuluj\u00facich buniek \u00a0plodu \u00a0a \u00a0ich \u00a0anal\u00fdze na \u00a0\u00fa\u010dely \u00a0prenat\u00e1lnej diagnostiky bolo \u00a0venovan\u00fdch nieko\u013eko predn\u00e1\u0161ok. Hoci bunky plodu boli objaven\u00e9 omnoho sk\u00f4r ako vo\u013en\u00e1 cirkuluj\u00faca \u00a0DNA plodu, ich vyu\u017eitie v diagnostike je obmedzen\u00e9. Probl\u00e9mom je najm\u00e4 \u00a0ich extr\u00e9mne n\u00edzky podiel v porovnan\u00ed s matersk\u00fdmi leukocytmi. Je ich 2 \u2013 6 kusov v 1 ml krvi.<\/p>\n","protected":false},"author":7,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_mi_skip_tracking":false,"footnotes":""},"categories":[287],"tags":[],"class_list":["post-1161","post","type-post","status-publish","format-standard","hentry","category-uncategorized","typ_clanku-accomplishments-abroad"],"acf":{"abstrakt":"

Centre for Medical Genetics and Reproductive Medicine organises the annual conference titled Prague Spring Symposium and in 2016, I had the honour to be invited as a guest speaker to talk about our experience with the non-invasive test we developed to determine the three most frequent types of trisomy (trisomy of chromosomes 21, 18 a 13) titled Trisomy Test. At the end of May, I was invited to give a lecture at the 4th<\/sup> Central Eastern European Symposium on Free Nucleic Acids, where I also provided overview of our experience with NIPT.<\/p>\n

The congress was held at the end of April and the main theme was aimed at non-invasive screening and diagnosis of foetuses and cancer, and was divided into two days. The first day looked in particular at using circulating foetal\/tumour cells and the second was dedicated mainly to usage of free circulating foetal or tumour DNA.<\/p>\n","casopis":[{"ID":735,"post_author":"7","post_date":"2017-04-06 13:21:01","post_date_gmt":"2017-04-06 11:21:01","post_content":"