MEDICO-EUGENETIC AND SOCIAL ASSESMENT OF PRENATAL DIAGNOSIS
Main researcher
: ZERGOLLERN-ČUPAK, LJILJANA (54772) Assistants
KOCIJAN-HERCIGONJA, DUBRAVKA (46624)
BARIŠIĆ, INGEBORG (168183)
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
Communication
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.
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;
COOPERATION - PROJECTS
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
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
COOPERATION - INSTITUTIONS
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
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
OTHER ACHIEVEMENTS
Name
: Algoritmi obrade bolesnika u humanoj genetici Type of achievement: Prototypes Authors: Zergollern Ljiljana Other information about the project.