Intrapericardial teratoma presenting hydrops fetalis in a 29‐week preterm infant

Abstract

If our patient's PWS had been detected at an earlier stage we would have conducted an organ-specific chromosomal analysis using cardiac muscle samples obtained during intracardiac surgery, in order to rule out the probability of mosaicism with trisomy 15. An atypical case of both PWS and mosaicism with trisomy 15 in a patient, who presented a prominent nasal root, a long philtrum, clenched hands, and CHD, was recently reported. 5 Our patient had a higher risk of chromosomal abnormality because he was born via repetitive IVF-ET procedures, and the m-UPD for chromosome 15 is thought to most commonly arise from the trisomic rescue of a trisomic conception, with loss of the paternal chromosome. CHD is a major complication of PWS, and detailed chromosomal analyses of, not only lymphocytes, but the myocardium including micro-array analysis, are warranted if severe cardiac abnormalities are detected with PWS from m-UPD. Ethics The patient's parents gave informed consent the genetic analysis to be performed, as is required by the research ethics committee in Hokkaido University Hospital. They gave approval for the publication of this report with data anonymization.