Intrapericardial Teratoma and Associated 3q29 Deletion in a Fetus:
                    Case Report

Onur Guralp; Katharina Schoner; Aline Wolter; Johanna Schenk; Maleen Reitz; Ellydda Widriani; Katrin Froebius; Axel Weber; Roland Axt-Fliedner

doi:10.1055/a-2365-8188

Zeitschrift für Geburtshilfe und Neonatologie, Table of Contents

Z Geburtshilfe Neonatol 2024; 228(06): 528-533
DOI: 10.1055/a-2365-8188

Case Report

Intrapericardial Teratoma and Associated 3q29 Deletion in a Fetus: Case Report

Intraperikardiales Teratom und assoziierte 3q29-Deletion bei einem Fötus: Fallbericht

Onur Guralp

¹Division of Prenatal Medicine & Fetal Therapy, University Hospital for Obstetrics and Gynecology, University Hospital Giessen and Marburg Campus Giessen, Giessen, Germany (Ringgold ID: RIN14973)

,

Katharina Schoner

²Institute of Pathology, Department of Fetal Pathology, University Hospital of Giessen and Marburg Campus Marburg, Marburg, Germany (Ringgold ID: RIN61061)

,

Aline Wolter

¹Division of Prenatal Medicine & Fetal Therapy, University Hospital for Obstetrics and Gynecology, University Hospital Giessen and Marburg Campus Giessen, Giessen, Germany (Ringgold ID: RIN14973)

,

Johanna Schenk

¹Division of Prenatal Medicine & Fetal Therapy, University Hospital for Obstetrics and Gynecology, University Hospital Giessen and Marburg Campus Giessen, Giessen, Germany (Ringgold ID: RIN14973)

,

Maleen Reitz

¹Division of Prenatal Medicine & Fetal Therapy, University Hospital for Obstetrics and Gynecology, University Hospital Giessen and Marburg Campus Giessen, Giessen, Germany (Ringgold ID: RIN14973)

,

Ellydda Widriani

¹Division of Prenatal Medicine & Fetal Therapy, University Hospital for Obstetrics and Gynecology, University Hospital Giessen and Marburg Campus Giessen, Giessen, Germany (Ringgold ID: RIN14973)

,

Katrin Froebius

³Institute of Human Genetics, University Hospital Giessen and Marburg Campus Giessen, Giessen, Germany (Ringgold ID: RIN14973)

,

Axel Weber

⁴Medizinische Genetik Mainz, Limbach Genetics, Mainz, Germany

⁵Center for Human Genetics, University of Marburg, Marburg, Germany (Ringgold ID: RIN9377)

,

Roland Axt-Fliedner

¹Division of Prenatal Medicine & Fetal Therapy, University Hospital for Obstetrics and Gynecology, University Hospital Giessen and Marburg Campus Giessen, Giessen, Germany (Ringgold ID: RIN14973)

› Author Affiliations

Abstract

Depending on its location, size, and proximity to the cardiac structures, an intrapericardial teratoma may lead to severe circulatory disturbances and even fetal demise. A 34-year-old G2P1 presented at 20w5d with a solid cystic mass in the right thorax of the fetus, originating from the right atrium or lung, with signs of non-immune fetal hydrops, soon resulting in intrauterine fetal death. Detailed post-mortem autopsy revealed signs of hydrops fetalis universalis due to a spherical tumor mass originating from the aortic root. Histologic examination of the tumor showed the characteristic morphology of a teratoma. A 1.6-Mb microdeletion at 3q29 was identified by single nucleotide polymorphism array. This is the first report presenting the diagnosis of an intrapericardial teratoma in a fetus with a microdeletion of 3q29. Intrapericardial teratoma has a poor prognosis and the fetal outcome relies on the development of hydrops. A post-mortem examination is essential in order to make a definitive diagnosis, which underlines the status of the fetal pathologist and the need for interdisciplinary cooperation.

Zusammenfassung

Abhängig von dessen Lage, Größe und Nähe zu den Herzstrukturen kann ein intraperikardiales Teratom zu schwerwiegenden Kreislaufstörungen und sogar zum Tod des Fetus führen. Eine 34-jährige G2P1 stellte sich in der 20+5 SSW mit einer soliden zystischen rechts-thorakalen Raumforderung beim Fetus vor, sonographisch vom rechten Herzvorhof oder der Lunge ausgehend. Ein im Verlauf progredienter Hydrops mündete bald darauf in einen intrauterinen Fruchttod. Eine ausführliche postmortale Autopsie zeigte Zeichen eines generalisierten Hydrops fetalis aufgrund einer kugelförmigen von der Aortenwurzel ausgehenden Tumormasse. Die histologische Untersuchung des Tumors zeigte die charakteristische Morphologie eines Teratoms. Ein 1,6-Mb-Mikrodeletion am 3q29 wurde durch ein Einzel-Nukleotid-Polymorphismus-Array identifiziert. Dies ist der erste Fallbericht, der die Diagnose eines intraperikardialen Teratoms bei einem Fetus mit einer Mikrodeletion von 3q29 präsentiert. Das intraperikardiale Teratom hat eine schlechte Prognose und das fetale Outcome hängt von der Entwicklung von Hydrops ab. Eine postmortale Untersuchung ist unerlässlich, um eine definitive Diagnose zu stellen, was die Bedeutung des Fetalpathologen und die Notwendigkeit interdisziplinärer Zusammenarbeit unterstreicht.

Keywords

intrapericardial teratoma - fetal mediastinal teratoma - 3q29 microdeletion - fetal pathology

Schlüsselwörter

intraperikardiales Teratom - fetales mediastinales Teratom - 3q29-Mikrodeletion - Fetalpathologie

Full Text

References

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