SVIBOR - Project code: 3-01-324


Strossmayerov trg 4, HR - 10000 ZAGREB
tel.: +385 1 459 44 44, fax: +385 1 459 44 69


SVIBOR - Collecting Data on Projects in Croatia

Project code: 3-01-324


Main researcher: ZERGOLLERN-ČUPAK, LJILJANA (54772)

Type of research: applied
Duration from: 05/01/91.

Papers on project (total): 38
Institution name: Medicinski fakultet, Zagreb (108)
Department/Institute: Center of Medical Genetics Dept of Paediatrics, Clinical Hospital Rebro till 1992, Children's Hospital Zagreb, Dept of Paediatrics, University of Zagreb
Address: Klaićeva 16
City: 10000 - Zagreb, Croatia
Phone: 385 (0) 01 441 851
Fax: 385 (0) 01 451 308

Summary: Genetic information center (GIC), popularly called genetic counselling unit, has become a key positioned part in chain work for prevention of genetic diseases. Prenatal diagnosis (PND) as a relatively new method of prevention of genetic disorders has become a very important and universally accepted way of eugenetic work in human medicine. Her wide, manyfold, but sometimes not sufficiently coordinated and professionaly justified implementation has provoked positive and negative reactions between doctors, parents and society. Looking differently at life, its begining and its quality, after twenty years of work in the field of PND, very often we encountre information encompassing medical, eugenic and social problems in different surroundings. The approaches and standpoints are divergent; newer and richer technologies, especially in the field of molecular genetics, identification of physical and morbid map of human genome, raise many questions and dilemmas in the work of genetic counsellor. As each region has its specificity which have to be recognized and considered in making recommendations for future work, we have tried through our project to realize these objectives in an effort to identify the present state as well as the actual need and value of genetic and eugenic work in our region.

Keywords: Eugenetics, genetic counselling, prenatal diagnosis, congenital anomalies, chromosomal aberrations, cystic fibrosis, muscular dystrophy, other genopathies

Research goals: The goals of this research were as follows: 1. Goal - to establish objectively the need and the value of the genetic information process and Genetic Information Center; - which profile of professionals is best accepted by those who ask information an help of GIC; - to identify the most frequent problems which urge individuals to ask for help in GIC; - how many of them need the help of laboratories and different diagnostic procedures; - how many visited GIC several times; - what was the outcome of the genetic expertise; Goal 2. During the work it has to be established or carried out: - which are the most acceptable methods of genetic expertise; - the introduction of new, sophisticated methods in cytogenetics (FISH, imprinting) and molecular genetics; - the introduction of analysis of structural changes in carriers of balanced translocations by estimation of theoretical and empirical risks for birth of an unbalanced child, with the aim to improve the genetic information in families at risk; - interviews of women from families at risk for balanced and unbalanced chromosome aberrations as well as of those who have decided to terminate the pragnancy with affected fetus with the objective to analyze psychological aspects of genetic information process, its acceptance and influence on the families at risk; - the analysis of the PND results on 8324 early amniocentesis; demonstration of the incidence and different types of chromosomal aberrations found at second trimester; 3. Goal - to analyze the right of parents to autonomous decision making, privacy and discretion; - to analyze the existence of socioethical pressures, stigmatization and rejection of the affected individuals; - to find out more data on value, acceptance or refusal of PND; - to get information about the unfavorable outcome of genetic expertise or the unexpected birth of an affected child; - to get acquainted with the reaction of women after termination of pregnancy, finding out weather the performed PND was an encouragement for further procreation; 4. Goal - on the basis of received data establish priorities in the work of GIC, improving the work of genetic counselors and all those who wish to enter the fascinating field of medical genetics;


  1. Name of project: Cross-cultural comparison of genetic counselling conversations
    Name of institution: Ludwig-Maximilians-Universitat Muenchen, Abteilung fuer paediatrische Genetik Der Kinderpoliklinik
    City: Muenchen, Deutschland

  2. Name of project: Genetic Engeneering in Diagnosing of Monofactorial Diseases
    Name of institution: Institut fuer Biologie und Humangenetik, Medizinische Fakultat, Universitat Graz
    City: Graz, Osterreich


  1. Name of institution: Ludwig-Maximilians-University Muenchen, Department of Paediatric Genetics, Genetic Counselling Unit
    Type of institution: University/Faculty
    Type of cooperation: Joint project
    City: Muenchen, Deutschland

  2. Name of institution: Institut fuer Biologie und Humangenetik, Medizinische Fakultat, Universitat Graz
    Type of institution: University/Faculty
    Type of cooperation: Systematic exchange of information
    City: Graz, Osterreich


  1. Name: Algoritmi obrade bolesnika u humanoj genetici
    Type of achievement: Prototypes
    Authors: Zergollern Ljiljana

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Last update: 10/11/95