Unit:
Κατεύθυνση Ιατρική Γενετική: Κλινική και Εργαστηριακή ΚατεύθυνσηLibrary of the School of Health Sciences
Author:
Kanellopoulou Theoni
Supervisors info:
Περικλής Μακρυθανάσης, Επίκουρος Kαθηγητής, Ιατρική Σχολή, ΕΚΠΑ
Χρισταλένα Σοφοκλέους, Επίκουρη Καθηγήτρια, Ιατρική Σχολή, ΕΚΠΑ
Χριστίνα Βρεττού, Εργαστηριακό Διδακτικό Προσωπικό, Ιατρική Σχολή, ΕΚΠΑ
Original Title:
Υποψήφια μητέρα με κληρονομική καρδιοπάθεια: Γενετική συμβουλευτική
Translated title:
Prospective mother with hereditary heart disease: Genetic counseling
Summary:
INTRODUCTION: The introductory part describes the physiological changes of the body during preg- nancy and the potential complications that could affect the cardiovascular system. An extensive analysis is provided on the various reproductive options, emphasizing assisted reproductive techniques, availa- ble methods of prenatal testing, and the legislation that governs in vitro fertilization and prenatal care in Greece. ΑΙΜ: This master thesis explores the pivotal role of genetic counseling for prospective moth- ers with inherited cardiac diseases, focusing on the complexity of risk assessment, intervention strate- gies, and the psychosocial aspects of family planning. ΜETHODS: A comprehensive review of the international literature on PubMed was conducted, and additional data for each inherited disease were gathered from the OMIM and Varsome databases. Furthermore, discussions with clinical and laboratory geneticists, cardiologists, lawyers, and affected individuals aided in further understanding the chal- lenges of genetic counseling in this patient group. RESULTS: The results analyze the genetic bases of the main inherited cardiac diseases and their implications for pregnancy and fetal health. The process of genetic counseling per disease is analyzed, highlighting the importance of accurate risk assessment and the presentation of reproductive options, including preimplantation genetic testing, prenatal testing, egg donation, along with the provision of support to affected individuals and couples. DISCUSSION: An analysis is presented about ethical dilemmas in genetic counseling for inherited cardiac diseases, such as balancing patient autonomy with the welfare of future progeny and the consequences of the evolution of assisted reproduction. The influence of social and cultural factors in shaping perceptions and decisions regarding family planning is also examined. The findings of this specific work emphasize the critical need for specialized genetic counseling services and "cardio-obstetrics" teams tailored to the unique needs of individuals with inherited cardiac diseases. Recommendations are made for enhancing counseling protocols, improving interdepartmental cooperation among healthcare providers, and in- creasing awareness and access to genetic counseling services.
Main subject category:
Health Sciences
Keywords:
Inherited cardiac diseases, Pregnancy, Prenatal testing, Assisted reproductive technique, Preimplantation genetic testing, Genetic counselling, Cardio-obstectrics, Bioethics
Number of references:
162
