Prenatal Diagnosis of Cloacal Anomalies: An Analysis of Pattern of Presentation with Emphasis in Males

Abstract

The objectives of the study were to recognize the ultrasound findings and describe the pattern and spectrum of cloacal anomalies in prenatal life with special attention to pattern recognition in males. This study included a retrospective cohort analysis over 3 years. Of the 14 cases suspected prenatally, the diagnosis was confirmed by fetal autopsy in ten and postnatal surgery in two. There were 8 male fetuses, 3 females and 2 in whom sex couldn't be determined and no information on sex was available in 1 case. The major findings on antenatal ultrasound were abdomino-pelvic mass in 6 (43%), ascites in 6 (43%), oligohydramnios in 12 (86%), hydronephrosis in 3 (21%), renal agenesis in 5 (36%), multi-cystic kidney disease in 4 (29%), non-visualization of bladder in 12 (86%), single umbilical artery in 2 (21%), ambiguity of external genitalia in 5 (36%), cardiac defects in 4 (29%), limb defects in 3 (21%) and spine anomalies in 3 (21%). Prenatal diagnosis of cloacal malformation should be suspected in the presence of a pelvic cystic mass with fluid-debris level and is reinforced when renal anomalies, non-visualization of bladder and anhydramnios accompany. More research is needed to focus on the pattern of presentation in male fetuses.

Cloacal Dysgenesis Sequence

“…The bladder outlet obstruction and pulmonary hypoplasia due to the lack of amniotic fluid and/or kidneys abnormalities should be considered as prognostic factors for neonatal death [2]. Although CDS occurs mainly in females, there have been reported cases of cloacal dysgenesis sequence (CDS) detected in males as well [3]. The prenatal differential diagnosis of cloacal dysgenesis sequence from other urinary obstructive diseases is difficult, but very important for evaluating fetal prognosis and guiding both prenatal and neonatal care [4].…”