The 12 th Down syndrome s symposium: Theoretical and Practical Training Course in Fetal Medicine P R O G R A M. June 5, 2014 THURSDAY

Átírás

1 The 12 th Down syndrome s symposium: Theoretical and Practical Training Course in Fetal Medicine P R O G R A M June 5, 2014 THURSDAY 9:00 Welcome János Szabó 1,2, Márta Széll 1 Promising Novelties and promises of genomic research Chairman: Márta Széll, János Szabad 9:20 Chromosome stability János Szabad Department of Medical Biology, University of Szeged 9:45 Mobile genes Ernő Duda Department of Medical Biology, University of Szeged 10:10 Non-coding RNAs in human evolution and diseases Széll Márta Molecular targeted therapy in oncology practice Zsuzsanna Kahán Department of Oncotherapy, University of Szeged 11:00 Break Prenatal screening Chairman: János Szabó, Gyula Csermely 11:30 Abnormal fetomaternal glucocorticoid metabolism in the background of premature delivery: placental expression patterns of the 11β-hydroxysteroid dehydrogenase 2 gene József Gábor Joó 1, Csaba Demendi 2, Balázs Börzsönyi 2 1 st Department of Gynecology and Obstetrics, Semmelweis University, 2 st Department of Gynecology and Obstetrics, Semmelweis University, Budapest 11:50 Association of young age of pregnant women with the risk of isolated congenital abnormalities Gyula Csermely 1, Endre Czeizel 2 RMC Fetal Medicine Centre 1, Foundation for the Community Control of Hereditary Diseases 2, Budapest

2 12:10 The accuracy of fetal echocardiography at the first trimester extended screening in a group of unselected 1843 consecutive fetuses Tibor Elekes, Gyula Csermely, László Molnár, Gábor Keszthelyi, Csaba Kelemen, Hajnalka Csernák, Zsuzsanna Kadala, Krisztina Kádár RMC- Fetal Medicine Centre, Budapest 12:30 Intrauterin prognosis for postnatal outcome of Down-syndrome Gábor Timmermann 1, Anikó Ladányi 2, Péter Mosonyi 1, Mónika Mátyás 2 Genium Fetal Medicine Centre 1, György Gottsegen National Institute of Cardiology 2, Budapest 12:50 Lunchbreak Interactive session on toxaemia Chairman: László Párducz, János Szabó 14:00 Toxaemia or pre-eclamptic toxaemia? An epigenetic approach János Szabó 1,2, Andrea Szabó 1,2, László Párducz 3, Andrea Szabóné Nagy 4 1, Medisono Fetal and Adult Health Research Center 2, Békés County Pándy Kálmán Hospital, Department of Obstetrical & Gynecological Ward, Gyula 3, Institute of Food Engineering Faculty of Engineering University of Szeged 4 14:25 Preeclampsia has a significant negative effect on human reproduction László Párducz 1, Andrea Párduczné Szöllősi 2, Andrea Szabó 3,4, János Szabó 3,4 Békés County Pándy Kálmán Hospital, Department of Obstetrical & Gynecological Ward, Gyula 1, Szent István University, Health Care Campus, Gyula 2, Medisono Fetal and Adult Health Research Center 3, Department of Medical Genetics, University of Szeged 4 14:50 Toxeamia as a metabolic disturbans. Cardinal symptomps: edema, proteinuria and hypertension Andrea Szabó, János Szabó 15:10 Association between nutrition, lifestyle and health Andrea Nagy Szabóné 1, Andrea Szabó 2,3, János Szabó 2,3 Institute of Food Engineering Faculty of Engineering University of Szeged 1, Department of Medical Genetics 2, University of Szeged, Medisono Fetal and Adult 15:30 Break

3 Prenatal and perinatal management, ethical aspects Chairman: Adél Tóth, László Kaiser 16:00 Technical, legal and ethical aspects of medical documentation. A system with FMF screening methodology is possible in Hungary Károly Szili, János Szabó 16:30 Clinicopathological correlations in spontaneous abortions and in medically induced therapeutic terminations Tamás Tóth, Patricia Forrás, Kitti Brinyiczki, László Kaiser Department of Pathology University of Szeged 16:50 Perinatal outcome and the risk of Autism Spectrum Disorders-retrospective, case-control study Melinda Vanya 1, Károly Szili 2, Szabina Szűcs 3, Ágnes Vetró 3, János Szabó 2, György Bártfai 1 Department of Obstetrics and Gynaecology 1, Department of Medical Genetics 2, Division of Child- and Adolescent Mental Health, Department of Pediatrics 3, University of Szeged 17:10 New ethical views about artificial abortion in the light of experiences gained by ultrasonic examinations Gábor Timmermann Genium Fetal Medicine Centre, Budapest 17:30 Guiding ethical principles in fetal medicine Adél Tóth, János Szabó 18:00 Nasal bone length in the first and second trimester Károly Szili 1,3, Andrea Szabó 1,3, János Tamás Szabó 2,3, János Szabó 1,3 Department of Medical Genetics 1, Department of Obstetrics and Gynaecology, University of Szeged 2, Medisono Fetal and Adult Health Research Center 3, Szeged

4 June 6, 2014 FRIDAY People living with Down syndrome Chairman: János Szabó, Márta Katona 9:00 Aprók a táncházban Students of Kozmutza Flóra Elementary School, Hódmezővásárhely 9:15 Drawings and paintings of a boy living with Down syndrome Márta Katona 9:35 Treatment of Down syndrome János Szabó, Andrea Szabó Fetal cardiac defects, neonatology, neurogenetics Chairman: Márta Katona, Hajnalka Orvos 10:00 The diagnosis and treatment of fetal arrhytmias Márta Katona 1, Tamás Bitó 2, János Sikovanyecz 2, Hajnalka Orvos 2, János Szabó 3 Department of Pediatrics 1, Department of Obstetrics and Gynecology 2, Department of Medical Genetics 3, University of Szeged 10:20 Frequency of fetal cardiac defects in our department János Sikovanyecz 1, Márta Katona 2, Vajtai Luca 1, Orvos Hajnalka 1 Department of Obstetrics and Gynaecology 1, Department of Pediatrics 2, University of Szeged 10:40 Break 11:10 Perinatal outcome of mothers aged 40 or older Hajnalka Orvos 1, Judit Bakki 1, Zita Gyurkovits 1, Márta Katona 2, Gábor Németh 1, Attila Pál 1 Department of Obstetrics and Gynaecology 1, Department of Pediatrics 2, University of Szeged 11:30 Detection of new mutations in neurogenetic diseases Emese Horváth, Nikoletta Nagy, Márta Széll New molecular genetic methods Chairman: Zsuzsanna László, Marianna Csenki 11:50 New molecular cytogenetic approaches Zsuzsanna László

5 12:10 Preimplantation genetic testing using array Comparative Genomic Hybridization of patients with balanced chromosomal rearrangements Erzsébet Gajdócsi 1, László Nánássy 1, Annamária Nemes 1, Ferenc Antal 2, Gyöngyvér Téglás 2, Marianna Csenki 1, Attila Vereczkey 1,2 Versys Clinics Human Reproduction Institute 1, Reprogenex Genetic Diagnostic Laboratory 2, Budapest 12:30 Retrospective analysis of the first 1000 Preimplantation Genetic Screening done in Hungary using array Comparative Genomic Hybridization Ferenc Antal 1, Diána Debreceni 1,2, Marianna Csenki 12,, Julianna Schönléber 1, Gyöngyvér Téglás 1, László Nánássy 2, Erzsébet Gajdócsi 2, György Báthori 1, Attila Vereczkey 1,2 Reprogenex Genetic Diagnostic Laboratory 1, Versys Clinics, Human Reproduction Institute 2, Budapest 12:50 Lunchbreak 13:40 Statutory meeting of the Hungarian Society of Fetal Medicine HANDS ON TRAINING supported by the General Electric Healthcare 14:00 Diagnosis and management of twin pregnancies I. Bence Csapó, Graz, Austria 14:40 Diagnosis and management of twin pregnancies II. Bence Csapó, Graz, Austria 15:20 Break 15:30 Practical 1.: Ultrasound screening: 1 st trimester Bence Csapó, János Sikovanyecz, Károly Szili, András Tankó, János Szabó 16:30 Practical 2.: Ultrasound screening: 2 nd trimester Bence Csapó, János Sikovanyecz, Károly Szili, András Tankó, János Szabó 16:30 Practical 3.: Ultrasound screening of fetal heart Márta Katona 17:30-18:30 Practical 4.: Measurement of NBL and PT Bence Csapó, János Sikovanyecz, Károly Szili, János Szabó 19:00 G a l a dinner

6 June 7, 2014 SATURDAY New molecular genetic screening techniques Chairman: Márta Széll, Emőke Endeffy 8:30 Skin disorders in the Neonatal Intensive Care Units Zsanett Csoma 1, Angéla Meszes 1, Hajnalka Orvos 2, Krisztina Mader 3, Gyula Tálosi 3 Department of Dermatology and Allergology 1, Department of Obstetrics and Gynaecology 2, Department of Pediatrics 3, University of Szeged 8:50 Importance of molecular genetic examinations in prenatal diagnostics Emőke Endreffy Department of Pediatrics, University of Szeged 9:10 Development of a novel, digital PCR-based non-invasive screening method for numerical chromosomal abnormalities Nikoletta Nagy 1, Éva Pap 2, Márta Czakó 3, Béla Melegh 3, Bálint Nagy 4, János Rigó 4, Attila Pál 2, Márta Széll 1 Department of Medical Genetics 1, Department of Gynecology and Obstetrics, University of Szeged 2, Department of Medical Genetics, University of Pécs 3, 1 st Department of Gynecology and Obstetrics, Semmelweis University 4, Budapest 9:30 Noninvasive Prenatal Diagnosis from Maternal Blood Finally Available after 20 Years of Research Wolfgang Holzgreve, University of Bonn 10:30 Break SUMMARY 11:00 Pregnancy care, prenatal screening and diagnostics. State of the Art János Szabó 11:25 Summary, take home messages János Szabó 11:40 Test 12:00 Lunchbreak