Non-immune hydrops fetalis (NIHF): diagnostic evaluation and lessons learned from a case series.

Abstract

Background: Fetal hydrops, characterized by abnormal fluid accumulation in two or more fetal compartments, is a critical condition with a poor prognosis, often resulting in significant fetal mortality. The condition itself is not a diagnosis but a clinical sign with many underlying causes, ranging from infections and chromosomal abnormalities to rare maternal conditions such as mirror syndrome.

Case presentation: This review examines three cases of fetal hydrops, highlighting common etiologies, such as infections and chromosomal disorders, and more unusual causes like maternal complications.

Diagnostic approach: The current approach to diagnosing hydrops fetalis relies primarily on ultrasound imaging and Doppler studies to identify abnormal fluid accumulation and pathophysiology.

Future perspective: However, advances in genomic testing are rapidly transforming the diagnostic pathway. With increasing accuracy, speed and accessibility of genetic testing, it is likely that these tools will be integrated earlier in the diagnostic process, potentially improving prognostic assessments and treatment outcomes.

Conclusion: The importance of early and accurate identification of the cause is essential to inform clinical management, improve fetal survival rates and support parental decision-making.