A single center experience in 90 cases with nonimmune hydrops fetalis: diagnostic categories ‒ mostly aneuploidy and still often idiopathic
Author:
Sturm Julia1ORCID, Milera Heiko1, Essmann Stephanie1, Fruth Anja2, Jahn-Eimermacher Antje3, Selig Mareike4, Winter Jennifer4, Seidmann Larissa5, Kampmann Christoph6, Kidszun André1, Mildenberger Eva1, Whybra Catharina1
Affiliation:
1. Department of Neonatology , Universitätsmedizin der Johannes Gutenberg-Universität Mainz , Mainz , Germany 2. Department of Obstetrics and Gynecology , Johannes Gutenberg Universitat Universitatsmedizin , Mainz , Germany 3. Department of Mathematics and Natural Sciences , Darmstadt University of Applied Sciences , Mainz , Germany 4. Institute of Human Genetics, Universitätsmedizin der Johannes Gutenberg-Universität Mainz , Mainz , Germany 5. Institute of Pathology, Universitätsmedizin der Johannes Gutenberg-Universität Mainz , Mainz , Germany 6. Pediatric Cardiology Medical Center of the Johannes Gutenberg University , Mainz , Germany
Abstract
Abstract
Objectives
The prognosis of nonimmune hydrops fetalis (NIHF) is still poor with a high mortality and morbidity rate despite progress in perinatal care. This study was designed to investigate etiology and outcome of NIHF.
Methods
A retrospective review of 90 NIHF cases from 2007 to 2019 was conducted at University Medical Center of the Johannes Gutenberg University, Mainz, Germany. Demographics, genetic results, prenatal and postnatal outcomes including one year survival as well as autopsy data were extracted. Etiology of hydrops was classified using 13 previously established categories. In 4 patients observed between 2016 and 2019, we used a next-generation-sequencing (NGS) panel for genetic evaluation.
Results
Ninety NIHF cases were identified, with a median gestational age (GA) at diagnosis of 14 weeks. There were 25 live-born infants with a median GA of 34 weeks at birth, 15 patients survived to one year. There was aneuploidy in more than one third of the cases. All 90 cases were subclassified into etiologic categories with chromosomal 35, idiopathic 15, syndromic 11, cardiovascular 9, inborn errors of metabolism 6, lymphatic dysplasia 3, thoracic 3, infections 3, gastrointestinal 3 and hematologic 2. The NGS panel was used in 4 cases and 4 diagnoses were made.
Conclusions
In 90 cases with NIHF we identified an aneuploidy in more than one third of the cases. Improved techniques, such as possibly specific genetic analysis, could reduce the high rate of unexplained cases of NIHF.
Publisher
Walter de Gruyter GmbH
Subject
Obstetrics and Gynecology,Pediatrics, Perinatology and Child Health
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