VP13.06: First trimester diagnosis of Sirenomelia associated with an abdominal cyst

Abstract

Sirenomelia or the mermaid syndrome is a rare and lethal congenital anomaly. It is characterised by fusion of lower extremities associated with genitourinary, anorectal and cardiovascular anomalies. Pathognomic finding is a single umbilical artery, the persistent' vitelline artery' connected directly to aorta. Sirenomelia has strong association with maternal diabetes mellitus. We report the first trimester diagnosis of Sirenomelia associated with abdominal cyst. It was type VII Sirenomelia. Abdominopelvic cyst was extending from pelvis up to stomach bubble. Other associated findings included a single umbilical artery originating from Aorta, Sacral agenesis, absent ductus venosus with umbilical vein directly opening in right atrium. Urinary bladder was persistently non visualised. Autopsy confirmed the abdominal cyst to be blind ended cloaca. A small tubular bladder and distal colon were connected to this cloaca. Kidneys were normal and ureters were opening in the cloaca. External genitalia and anal opening were absent. Karyotype was normal. Protocol-based anatomic evaluation aids the first trimester diagnosis of Sirenomelia and associated anomalies. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.