Autopsy and Case Reports
https://www.autopsyandcasereports.org/article/doi/10.4322/acr.2024.477
Autopsy and Case Reports
Autopsy Case Report and Review

Novel autopsy and genetic findings in an acardiac twin: case report and literature review

Natalie Fabrizio; Christopher L. Pankey; Kathleen Martin; Michael Baker; Cameron Clark Felty

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Abstract

Twin reversed arterial perfusion (TRAP) sequence is a rare complication of monochorionic twinning whereby a donor twin perfuses an acardiac twin via aberrant vascular anastomoses. The resulting paradoxical retrograde blood flow supplying the acardiac twin is oxygen-poor, leading to some of the most severe malformations encountered in humans. Though the first descriptions of acardiac twins date back to at least the 16th century, the pathophysiologic processes which underpin the development of TRAP sequence are still being elucidated. Theories on the pathogenesis of TRAP sequence include deficiencies intrinsic to the embryo and primary abnormalities of the placental vasculature. Autopsy studies continue to provide clues to the underlying pathogenesis of TRAP sequence, and the characterization of the spectrum of manifestations that can be observed in acardiac twins. Herein, we present the clinical, autopsy, and molecular findings in a unique case of TRAP sequence. Novel findings include a primitive cloaca-like structure and chromosomal aberrations involving 6q11.1 and 15q25.1.

Keywords

Fetofetal Transfusion, Cloaca, Twins Monozygotic, genetics, Chromosomal Aberrations

References

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Submitted date:
01/22/2024

Accepted date:
02/05/2024

Publication date:
03/05/2024

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