A single center experience in 90 cases with nonimmune hydrops fetalis: diagnostic categories ‒ mostly aneuploidy and still often idiopathic

Julia Sturm; Heiko Milera; Stephanie Essmann; Anja Fruth; Antje Jahn-Eimermacher; Mareike Selig; Jennifer Winter; Larissa Seidmann; Christoph Kampmann; André Kidszun; Eva Mildenberger; Catharina Whybra

doi:10.1515/jpm-2022-0005

Article

A single center experience in 90 cases with nonimmune hydrops fetalis: diagnostic categories ‒ mostly aneuploidy and still often idiopathic

Julia Sturm , Heiko Milera , Stephanie Essmann , Anja Fruth , Antje Jahn-Eimermacher , Mareike Selig , Jennifer Winter , Larissa Seidmann , Christoph Kampmann , André Kidszun , Eva Mildenberger and Catharina Whybra

Published/Copyright: April 11, 2022

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From the journal Journal of Perinatal Medicine Volume 50 Issue 7

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.

Keywords: chromosomal; genetic analysis; hydrops

Corresponding author: Julia Sturm, Department of Neonatology of the Johannes Gutenberg University, Mainz, Germany, Phone: +49 6131 17 5892, E-mail: julia.sturm@unimedizin-mainz.de

Acknowledgments

This publication uses data collected within the framework of the doctoral thesis of Stephanie Essmann and Heiko Milera.

Research funding: None declared.
Author contributions: Heiko Milera, Department of Neonatology of the Johannes Gutenberg University, Mainz, Germany, was responsible for designing the protocol, extracting and analyzing data and interpreting results. Stephanie Essmann, Department of Neonatology of the Johannes Gutenberg University, Mainz, Germany, was responsible for designing the protocol, extracting and analyzing data and interpreting results. Anja Fruth, Department of Obstetrics and Gynecology of the Johannes Gutenberg University, Mainz, Germany, contributed to data extraction and provided feedback on the report. Antje Jahn-Eimermacher, Department of Mathematics and Natural Sciences, Darmstadt University of Applied Sciences, contributed to extracting and analyzing data, interpreting results and creating tables and figures. Mareike Selig, Institute of Human Genetics of the Johannes Gutenberg University, Mainz, Germany, contributed to data extraction, wrote passage 2.4. and provided feedback on the report. Jennifer Winter, Institute of Human Genetics of the Johannes Gutenberg University, Mainz, Germany, contributed to data extraction. Larissa Seidmann, Institute of Pathology of the Johannes Gutenberg University, Mainz, Germany, provided data and information on autopsies. Christoph Kampmann, Pediatric Cardiology Medical Center of the Johannes Gutenberg University, Mainz, Germany, contributed to data extraction. André Kidszun, Department of Neonatology of the Johannes Gutenberg University, Mainz, Germany, provided feedback on the report. Eva Mildenberger, Department of Neonatology of the Johannes Gutenberg University, Mainz, Germany, was responsible for designing the study protocol and provided feedback on the report. Catharina Whybra, Department of Neonatology of the Johannes Gutenberg University, Mainz, Germany, was responsible for designing the study protocol, conducting the search, interpreting results and screening potentially eligible studies. All authors have accepted responsibility for the entire content of this manuscript and approved its submission.
Competing interests: Authors state no conflict of interest.
Informed consent: Informed consent was obtained from all individuals included in this study.
Ethical approval: Not applicable.

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Received: 2022-01-05

Accepted: 2022-03-10

Published Online: 2022-04-11

Published in Print: 2022-09-27

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Articles in the same Issue

https://doi.org/10.1515/jpm-2022-0005

Keywords for this article

chromosomal; genetic analysis; hydrops