Persistent cloaca presenting with a perineal cyst: Prenatal ultrasound and magnetic resonance imaging findings

Abstract

A 40-year-old, primigravid woman presented at 23 weeks of gestation for evaluation of an extra-abdominal echogenic cystic mass of the fetus. Amniocentesis revealed a karyotype of 46,XX. Prenatal ultrasound showed a two-vessel umbilical cord, hydrocolpos, and distended bladder, urethra, and colon, and a perineal cystic mass. The kidneys and amniotic fluid amount were normal. Fetal magnetic resonance imaging revealed ascites, hydrocolpos, distended urinary bladder and colon, high rectum, and a perineal cyst. The fetus postnatally manifested persistent cloaca. The perineum was distended and smooth, without patent anal, vaginal, and urethral openings. The external genitalia were ambiguous with no labia majora, labia minora, or clitoris. The perineal cyst had a very small single orifice. We suggest that cloacal anomalies be considered in any female fetus with hydrocolpos, distended bladder and colon, ascites, and a perineal cyst.

Sonographic imaging and differential diagnosis of fetal perineal masses

“…Findings associated with anorectal malformations and persistent cloaca may resemble a perineal mass, and therefore the differential diagnosis is essential. Most of the literature cases, specifically those diagnosed prenatally, are case reports [1][2][3][4][5][6][7][8][9][10][11]. Although the fetal perineum is not routinely assessed as a part of the fetal anatomical scan, we have implemented it to all fetal examinations referred for targeted scans in recent years.…”