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

Area of Science:

• Fetal Pathology
• Medical Genetics
• Cardiovascular Surgery

Background:

• Intrapericardial teratomas are rare congenital tumors with significant potential for fetal morbidity and mortality.
• Their location and size can compromise fetal circulation, leading to hydrops fetalis and intrauterine fetal demise.
• Non-immune hydrops fetalis is a critical indicator of poor prognosis in affected fetuses.

Purpose of the Study:

• To report the first case of an intrapericardial teratoma diagnosed in a fetus with a 3q29 microdeletion.
• To emphasize the diagnostic challenges and prognostic implications of intrapericardial teratoma.
• To underscore the importance of post-mortem examination in diagnosing rare fetal conditions.

Main Methods:

• Case presentation of a fetus diagnosed with a solid cystic mass.
• Detailed post-mortem autopsy including gross and histologic examination of the tumor.
• Genetic analysis using single nucleotide polymorphism (SNP) array to identify chromosomal abnormalities.

Main Results:

• A fetus presented with a large intrapericardial teratoma causing non-immune hydrops fetalis and intrauterine fetal death.
• Post-mortem examination confirmed the teratoma originating from the aortic root.
• A 1.6-Mb microdeletion at 3q29 was identified in the fetus.

Conclusions:

• Intrapericardial teratoma is associated with a poor fetal prognosis, particularly when hydrops develops.
• The co-occurrence of intrapericardial teratoma and 3q29 microdeletion is reported for the first time.
• Comprehensive post-mortem examination by fetal pathologists is crucial for definitive diagnosis and understanding of rare fetal anomalies.