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Challenges in the Prenatal Diagnosis of Cloaca
Lisa B E Shields1, Jeffrey T White2,3, Dennis S Peppas2,3
1Norton Neuroscience Institute, Norton Healthcare, Louisville, KY, USA.
Insights
Prenatal ultrasound (US) can detect persistent cloaca, a severe anorectal malformation, through findings like ambiguous genitalia and cystic masses. Early detection aids in crucial prenatal counseling and family preparation for affected infants.
Area of Science:
- Pediatric Surgery
- Fetal Medicine
- Medical Imaging
Background:
- Persistent cloaca is a complex anorectal malformation involving the confluence of the genital, urinary, and gastrointestinal tracts.
- This condition results from incomplete partitioning of embryonic structures during fetal development.
Purpose of the Study:
- To highlight key prenatal ultrasound findings suggestive of persistent cloaca.
- To emphasize the importance of early identification for improved patient management and family support.
Main Methods:
- Retrospective review of 5 infants diagnosed with cloaca.
- Analysis of prenatal ultrasound (US) findings including ambiguous genitalia, cystic pelvic/abdominal mass, hydronephrosis, ascites, single umbilical artery, and oligohydramnios.
Main Results:
- Prenatal US identified ambiguous genitalia and cystic pelvic/abdominal masses in 3 cases each.
- Ambiguous genitalia was a consistent finding in all 5 neonates at birth.
- Cloaca occurred in one twin in two separate twin pregnancies.
Conclusions:
- Prenatal ultrasound findings such as ambiguous genitalia and cystic masses should raise suspicion for persistent cloaca.
- Pediatricians must be aware of these US markers for timely diagnosis.
- Improved prenatal detection facilitates better counseling and preparation for families.
Background:
Cloaca is a common excretory channel for the genital, urinary, and gastrointestinal tracts. It is considered a severe anorectal malformation caused by failed partitioning of the genital, rectal, and urinary tracts.
Methods:
We report 5 infants with cloaca at birth who were identified prenatally by one or more of the following on prenatal ultrasound (US): ambiguous genitalia, a cystic pelvic/abdominal mass, hydronephrosis, ascites, a single umbilical artery, and oligohydramnios.
Results:
A cystic pelvic/abdominal mass and ambiguous genitalia were each observed in 3 cases by prenatal US. Ambiguous genitalia was observed in all 5 neonates at birth. There were 2 twin pregnancies (dichorionic/diamniotic and monochorionic/monoamniotic), with only 1 twin in a set affected with cloaca.
Conclusion:
Pediatricians should be alert to the prenatal US findings that may raise suspicion of a persistent cloaca to improve both prenatal counseling and family preparation.
