| Abstract [eng] |
Hydrops fetalis is a severe, life-threatening fetal condition, characterized by abnormal fluid accumulation in two or more fetal compartments. This thesis focuses on both immune and non-immune hydrops fetalis (NIHF), with the emphasis on the latter due to its increasing prevalence and complex etiology. The primary objective of this literature review is to research and summarize knowledge on the etiology, diagnosis, and management of hydrops fetalis. Furthermore, the thesis explores opportunities for improvement of diagnostic work-ups and management of hydrops fetalis, to improve prognosis and how previously unknown causative factors could be determined. The methodology of this thesis consists of a comprehensive literature review, evaluation of recent studies on the topic and clinical guidelines published in the last decade. A structured analysis was conducted on the various etiologies of hydrops fetalis which include genetic and metabolic disorders, as well as infectious diseases, hematological anomalies, and structural malformations. The findings of the literature review underline the remaining challenges in diagnosis and management of NIHF in particular. Guidelines published by the Society for Maternal-Fetal Medicine (SMFM) in 2015 recommend karyotyping and chromosomal microarray (CMA) for diagnostics work-up, even though these methods fail to identify the cause of a major proportion of the cases. The thesis highlights the growing importance of exome sequencing (ES) and targeted gene panels, which significantly improve the diagnostic yield. Additionally, they are more cost-effective compared to other methods, offer potential early interventions and improve the patient counselling. Clinically, management of NIHF must be individual and take into consideration gestational age, etiology, maternal and fetal condition, therapeutic possibilities, and prognosis. In conclusion, the thesis emphasizes the urgent need for improved diagnostic protocols and the incorporation of ES and targeted gene panels to better understand the multifaceted and complex etiology of hydrops fetalis. More research of the genetic and pathophysiological basis of hydrops fetalis could lead to improved prenatal counselling, diagnosis, therapy and ultimately to a better prognosis. Moreover, clinical guidelines should be updated to include the advances in knowledge emerging from a decade of research and clinical studies. |
