Prenatal diagnosis of exstrophy of the cloaca

Abstract

While screening for neural tub defects, three cases of exstrophy of the cloaca were found through elevated second-trimester maternal serum alphafetoprotein levels. Measurement of amniotic fluid alphafetoprotein and examination of the structure of rapidly adhering cells confirmed the abnormalities, and the pregnancies were terminated. Subsequent studies of cholinesterase isozymes by acrylamide electrophoresis showed an abnormal acetylcholinesterase band in each of the three amniotic fluids. During the same period, two more cases of exstrophy of the cloaca were identified in spontaneous abortions and another one in a stillbirth. It is suggested that the condition is more common than has been previously suspected and is often misclassified as omphalocele.

OEIS complex: prenatal ultrasound and autopsy findings

“…The incidence of OEIS complex is unknown; the most commonly quoted incidence is in the range of 1 in 200 000 to 1 in 250 000 births1, 4, 15–18. The origin of these figures can be traced back to two papers3, 19.…”

Exomphalos (Omphalocele)

“…Careful examination of the vertebrae and gastro-intestinal tract should be performed to exclude the omphalocoeleexstrophy-imperforate anus-spinal defects (OEIS) syndrome (Chen et al, 1997). Normal imaging of the fetal bladder, kidneys and caudal anterior abdominal wall should exclude the bladder or cloacal exstrophy (Gosden and Brock, 1981). The presence of renal enlargement, macrosomia and polyhydramnios with an exomphalos on ultrasound examination would indicate the possibility of Beckwith-Wiedemann syndrome and cytogenetic examinations could be specifically focused on excluding abnormalities of 11p, or uniparental disomy.…”

Prospective management of exstrophy of the cloaca and myelocystocele following prenatal ultrasound recognition of neural tube defects in identical twins

“…This complex malformation has its onset early in the first trimester. Synonymous terms include vesico-intestinal fissure, exstrophia sphlanchnica, ectopia cloacae, triple agenesis of the tailfold, OIES "syndrome," and exstrophy of the cloaca "anomalad" [Gosden and Brock, 1981;Hayden et al, 19731. Incidence estimates range from 1/15,000 to 1/250,000 live births [Hayden et al, 1973;Petersen and Nelson, 19821.…”