Outcome and etiology of fetal pleural effusion, fetal ascites, and hydrops fetalis after fetal intervention: retrospective observational cohort from a single institution

Abstract

ABSTRACTObjectivesNonimmune hydrops fetalis (NIHF) is the pathological accumulation of fluids in fetal compartments without maternal isoimmunisation. Fetal interventions (e.g. shunting, fetal paracentesis, fetal thoracocentesis, and fetal pleurodesis) are used to alleviate the fluid accumulations. The outcomes of fetal interventions are uncertain because the underlying causes of NIHF vary. We explore the etiologies and the long‐term outcomes of NIHF after fetal interventions.MethodsFetuses with NIHF, defined by the presence of fetal ascites, pleural or pericardial effusion, skin edema and cystic hygroma, or a combination of these features, who underwent fetal interventions at our institution during 2012‐2021 were retrospectively reviewed. Clinical surveillance, genetic analyses, and viral infection screening were used to delineate the etiologies. Chart reviews and telephone interviews were conducted to assess the long‐term outcomes.ResultsA total of 55 fetuses were enrolled and 46 cases had final follow‐up data after birth. Etiologies were identified in 33 cases, of which 4 who initially failed to identify the underlying causes using small‐gene‐panel tests were later diagnosed with monogenic disorders by whole exome sequencing (WES). Twenty‐three cases survived with a follow‐up period of 2‐ to 11‐year span when submission, 17 of which were healthy. Particularly, all 11 cases initially presented as congenital chylothorax survived with favorable outcomes.ConclusionsThe etiologies of NIHF are heterogeneous, and the long‐term (2‐ to 11‐year span) outcomes of fetal interventions vary and are correlated with the underlying etiologies. Genome‐wide tests, such as WES, are helpful for prenatal diagnosis and possibly alter the future fetal therapy strategies of NIHF.This article is protected by copyright. All rights reserved.