Intrapericardial teratoma and associated 3q29 deletion in a fetus: First report

 

A 34-year-old G2P1 was referred to our clinic with fetal hydrops. The ultrasonographic examination at 20w5d revealed a prominent solid cystic mass (22x17mm) in the right thorax, originating from the right atrium or lung, with signs of non-immune fetal hydrops (NIHF). The color-Doppler evaluation showed no direct vascular connection to the cardiac chambers. The cardiac anatomy and function were otherwise normal, neither showing signs of valve insufficiency nor myocardial dysfunction. Unfortunately, an intrauterine fetal demise was detected at 21w6d. Following labor induction, a 450g female fetus was delivered. The postpartum placenta genetic Single Nucleotide Polymorphism-Array detected a 3q29 microdeletion (1,6 KB). A fetal pathological examination revealed an intrapericardial spherical tumor mass. Characteristic histological morphology led to the diagnosis of a benign teratoma. Except for the deleterious sequels of NIHF, no other anomalies were detected. The clinical features associated with the 3q29 microdeletion syndrome vary widely. Symptoms may include developmental delay, mental retardation and behavioral abnormalities. Congenital malformations are less common, including cleft lip and palate, urogenital malformations and heart defects, such as persistent ductus arteriosus Botalli and ventricular septal defect. Extragonadal teratomas, especially sacrococcygeal and occasionally mediastinal teratomas, were observed in cases with chromosomal defects. Herein, we describe a 3q29 del-associated intrapericardial teratoma for the first time, probably expanding the range of features. To our knowledge, intrapericardial teratoma was not reported to be associated with 3q29 microdeletion syndrome in a fetus. This case exemplifies the need for genetic analyses of mediastinal tumors. The fetal outcome relies on the development of hydrops due to mass compression of vessels and heart failure. A post-mortem examination is required for the final diagnosis and underlines the need for interdisciplinary cooperation and the status of the fetal pathologist.

Publication History

Article published online:
29 August 2023

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