Prenatal Diagnosis of Cloacal Exstrophy: A Case Report and Differential Diagnosis with a Simple Omphalocele

Abstract

KEY WORDSanterior abdominal wall defect, cloacal exstrophy, omphalocele Cloacal exstrophy is a rare congenital disorder that may lead to mortality and morbidity. Although the prenatal diagnosis of cloacal exstrophy can be made by a midtrimester ultrasound, it is difficult to differentiate it from a simple omphalocele that can be corrected completely by surgery without morbidity. We reported a case with cloacal exstrophy and reviewed previous literature on differentiating it from an omphalocele. A 33-year-old, pregnant female visited our outpatient center for prenatal care at the 22 nd gestational week. The midtrimester ultrasound showed fetal anomalies including a protruding mass from umbilicus, absence of bladder, ambiguous genitalia, and bilateral renal hydronephrosis. The parents received prenatal genetic counseling and decided to continue the pregnancy. A female baby was delivered at the 37 th gestational week via vaginal delivery, and cloacal exstrophy without omphalocele was diagnosed. Cloacal exstrophy is a complicated congenital disorder that should be differentiated from a simple omphalocele. Prenatal counseling and postnatal care in a tertiary medical center are important for parents and the fetus, respectively. ª

Prenatal diagnosis of rare cloacal exstrophy: A case report

“…Thus, early prenatal diagnosis and transfer to a tertiary medical center for further neonatal care are essential for newborns with CE. However, early prenatal diagnosis of CE remains a challenge because of the complicated anatomy of the associated anomalies [ 7 ]. A correct prenatal diagnosis of CE is rarely made, even if pelvic or genitourinary abnormalities are suspected on prenatal ultrasound examination.…”

A Spectrum of Ultrasound and MR Imaging of Fetal Gastrointestinal Abnormalities: Part 2 Anorectal Malformation, Liver, and Abdominal Wall Anomalies

“…Even so, sonographic diagnosis remains strenuous and accurate prenatal diagnosis is reported to be only 25%. Diagnostic features for cloacal exstrophy in the US examination include absence of bladder with normal amount of amniotic fluid, small protruding echogenic solid mass, a large abdominal wall defect, omphalocele forming the upper part of the defect, ambiguous genitalia, and a low set umbilicus 41 …”

“…When cloaca exstrophy is suspected in prenatal US, MRI can be utilized to make the accurate diagnosis. Nonvisualization of normal bladder, absence of meconium filled rectum, protruding mass of the anterior abdominal wall, and bifid appearance of the bladder associated with protruding bowel through the defect (elephant trunk sign) are diagnostic clues on MR images 41 …”

“…Persistent nonvisualization of bladder, low position of cord, and ambiguous genitalia help differentiate the presence of cloacal exstrophy from omphalocele. Nonetheless, it is important not to mistake pelvic cystic structures with normal bladder 41 …”

“…Diagnostic features for cloacal exstrophy in the US examination include absence of bladder with normal amount of amniotic fluid, small protruding echogenic solid mass, a large abdominal wall defect, omphalocele forming the upper part of the defect, ambiguous genitalia, and a low set umbilicus. 41 When cloaca exstrophy is suspected in prenatal US, MRI can be utilized to make the accurate diagnosis. Nonvisualization of normal bladder, absence of meconium filled rectum, protruding mass of the anterior abdominal wall, and bifid appearance of the bladder associated with protruding bowel through the defect (elephant trunk sign) are diagnostic clues on MR images.…”