Title Genetičko savjetovalište i prenatalna dijagnostika
Title (english) Genetic counseling and prenatal diagnosis
Author Maja Mlakić
Mentor Nataša Skitarelić (mentor)
Committee member Marijana Matek Sarić (predsjednik povjerenstva)
Committee member Nataša Skitarelić (član povjerenstva)
Committee member Ivana Gusar (član povjerenstva)
Granter University of Zadar (Department of Health Studies) Zadar
Defense date and country 2022-02-18, Croatia
Scientific / art field, discipline and subdiscipline BIOMEDICINE AND HEALTHCARE Clinical Medical Sciences
Abstract Genetičko savjetovalište ustanova je koja pruža pojedincu ili obitelji osnovne obavijesti o bolestima i anomalijama koje se nasljeđuju te njihovom utjecaju na život bolesnika. U savjetovalištu različiti stručnjaci objašnjavaju budućim roditeljima način i rizik nasljeđivanja, predočavaju mogućnosti u odnosu na rizik (odustajanje od potomstva, usvajanje, umjetna oplodnja), pomažu u samostalnom donošenju odluka te provode razgovore s roditeljima. Stoga je prikladnije govoriti o genetičkom informiranju, jer je cilj što potpunije informiranje, kako bi zainteresirani mogli samostalno donijeti najprihvatljiviju odluku. Pritom su važna načela dobrovoljnosti pristupa informiranju i individualnost izbora odluke. Dio genetičkog savjetovanja i informiranja je prenatalna dijagnostika. Zbog velikog napretka biomedicine posljednjih desetljeća, moguće je postavljanje dijagnoze nasljedne bolesti ili anomalije još prije rođenja djeteta, s dovoljnom sigurnošću i procjenom rizika za majku i plod. Metode kojima se danas koristi prenatalna dijagnostika mogu biti invazivne i neinvazivne. Iako prenatalna dijagnostika ima mnoge pogodnosti za roditelje u smislu planiranja potomstva, ima i svoja ograničenja. Tu su, prije svega, etički problemi prekidanja trudnoće, zatim problemi vezani za samu tehnologiju prenatalne dijagnostike, sigurnost izvođenja dijagnostičkih postupaka, broj poremećaja koji se mogu otkriti u ranim fazama trudnoće, sigurnost postavljanja dijagnoze.
Abstract (english) Genetic counseling is an institution that provides an individual or family with basic information about diseases and anomalies that are inherited and their impact on the lives of patients. In the counseling center, various experts explain to future parents the way and risk of inheritance, present opportunities in relation to risk (abandonment of offspring, adoption, artificial insemination), help in independent decision-making and conduct interviews with parents. Therefore, it is more appropriate to talk about genetic information, because the goal is to provide as complete information as possible, so that those interested can make the most acceptable decision on their own. The principles of voluntary access to information and the individuality of the choice of decision are important. Part of genetic counseling and information is prenatal diagnosis. Due to the great advances in biomedicine in recent decades, it is possible to diagnose an inherited disease or anomaly even before the birth of a child, with sufficient certainty and risk assessment for the mother and fetus. The methods used today for prenatal diagnosis can be invasive and non-invasive. Although prenatal diagnosis has many benefits for parents in terms of offspring planning, it also has its limitations. There are, first of all, ethical problems of abortion, then problems related to the technology of prenatal diagnosis, the safety of performing diagnostic procedures, the number of disorders that can be detected in the early stages of pregnancy, the safety of diagnosis.
Keywords
genetičko savjetovanje
invazivna i neinvazivna prenatalna dijagnoza
Keywords (english)
genetic counseling
invasive and non-invasive prenatal diagnosis
Language croatian
URN:NBN urn:nbn:hr:162:731838
Study programme Title: Nursing Study programme type: university Study level: undergraduate Academic / professional title: sveučilišni prvostupnik/prvostupnica (baccalaureus/baccalaurea) sestrinstva (sveučilišni prvostupnik/prvostupnica (baccalaureus/baccalaurea) sestrinstva)
Type of resource Text
File origin Born digital
Access conditions Access restricted to students and staff of home institution
Terms of use
Created on 2022-03-14 08:20:35