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Antenatal diagnosis of bladder/cloacal exstrophy: challenges and possible solutions
Anju Goyal1, Janet Fishwick, Ruth Hurrell
1Department of Paediatric Urology, Royal Manchester Children's Hospital, Oxford Road, Manchester M13 9WL, UK. dranjugoyal@yahoo.com
Insights
Accurate antenatal diagnosis of bladder exstrophy (BE) and cloacal exstrophy (CE) remains a challenge, with only a quarter of affected babies correctly diagnosed prenatally. Improving radiographer awareness and specialist review is crucial for better detection rates.
Area of Science:
- Medical Imaging
- Fetal Medicine
- Pediatric Surgery
Background:
- Bladder exstrophy (BE) and cloacal exstrophy (CE) are complex congenital anomalies requiring specialized management.
- Accurate antenatal diagnosis is crucial for effective planning and counseling.
Purpose of the Study:
- To identify challenges in the antenatal diagnosis of BE and CE.
- To understand the difficulties in antenatal counseling for these conditions.
Main Methods:
- Utilized a prospectively maintained database of antenatal and live-born referrals for BE/CE.
- Collected data on antenatal scan findings and pregnancy outcomes.
Main Results:
- Only 10 out of 40 referred babies with BE/CE received an antenatal diagnosis.
- Five cases had suspicious findings but no diagnosis; three had incorrect diagnoses.
- Fetal gender identification was possible in only 3 of 16 cases with suspected BE/CE at the 20-week scan.
Conclusions:
- Improving antenatal detection rates for BE/CE requires enhanced radiographer awareness and specialist fetal unit involvement.
- Antenatal diagnosis reliability is limited, and challenges in fetal gender identification complicate counseling.
- Magnetic resonance imaging and karyotyping may offer supplementary diagnostic information.
Objective:
To identify the pitfalls in accurate antenatal diagnosis of bladder exstrophy (BE) and cloacal exstrophy (CE), and thus understand the challenges for antenatal counselling.
Methods:
A prospectively maintained bladder exstrophy database of antenatal and live born referrals for BE/CE was used to identify patients. Data were collected about the antenatal scan findings and the outcome of pregnancy.
Results:
Between 2003 and 2009, 40 new babies with BE/CE were referred and of them 10 had an antenatal diagnosis. Five patients did not have a diagnosis despite suspicious findings noted on antenatal scans and another three had a wrong diagnosis of BE/CE. Of the 16 referrals with antenatal suspicion of BE/CE, 5 opted for termination. At the 20-week scan, it was possible to identify the gender of the fetus in 3/16 cases only.
Conclusions:
Only a quarter of the babies born with BE/CE had received an antenatal diagnosis. Raising awareness about the condition amongst radiographers, and facilitating further scanning by a specialist fetal management unit if suspicious findings are noted, is crucial for improving the rate of detection. An antenatal diagnosis may not be reliable, and difficulty in identifying gender at the 20-week scan adds to the complexity of antenatal counselling. Magnetic resonance imaging and karyotyping may provide additional helpful information.
