Purpose: We assess and clarify diagnostic features for making the pren
atal diagnosis of cloacal exstrophy. Materials and Methods: We evaluat
ed 9 patients born with cloacal exstrophy at our institutions (2 prosp
ectively and 7 retrospectively) for diagnostic features on prenatal ul
trasound studies. We also thoroughly reviewed the literature on 13 pre
vious prenatally diagnosed cloacal exstrophy cases. Diagnostic criteri
a were assessed by combining the findings in our patients and those in
previous reports. Results: Of the 22 patients with prenatal ultrasoun
d studies and cloacal exstrophy whom we analyzed 1 of our 9 and 2 in t
he literature had a cloacal membrane that persisted at 22 weeks of ges
tation. Major ultrasound criteria for diagnosing cloacal exstrophy pre
natally are nonvisualization of the bladder, a large midline infraumbi
lical anterior wall defect or cystic anterior wall structure (persiste
nt cloacal membrane), omphalocele and lumbosacral anomalies. Seven les
s frequent or minor criteria include lower extremity defects, renal an
omalies, ascites, widened pubic arches, a narrow thorax, hydrocephalus
and 1 umbilical artery. Conclusions: We propose major and minor crite
ria to assist in the prenatal diagnosis of cloacal exstrophy. Despite
these major and minor criteria the certainty of establishing a prenata
l diagnosis remains challenging. Persistence of the cloacal membrane b
eyond the first trimester in 1 patient was an exception to the classic
concept of cloacal exstrophy embryogenesis. An accurate prenatal diag
nosis requires validation of these criteria by further correlation of
prenatal and postnatal observations.