Department of Paediatric Urology, Royal Manchester Children's Hospital, Oxford Road, Manchester M13 9WL, UK.
J Pediatr Urol. 2012 Apr;8(2):140-4. doi: 10.1016/j.jpurol.2011.05.003. Epub 2011 Jun 8.
To identify the pitfalls in accurate antenatal diagnosis of bladder exstrophy (BE) and cloacal exstrophy (CE), and thus understand the challenges for antenatal counselling.
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.
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.
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.
确定膀胱外翻（BE）和直肠膀胱外翻（CE）产前准确诊断中的陷阱，从而了解产前咨询的挑战。
使用前瞻性维护的 BE/CE 产前和活产转诊的膀胱外翻数据库来识别患者。收集有关产前扫描结果和妊娠结局的数据。
2003 年至 2009 年间，有 40 名 BE/CE 新患儿被转诊，其中 10 名患儿在产前诊断中发现。尽管在产前扫描中发现了可疑迹象，但仍有 5 名患儿未被诊断出，另有 3 名患儿被误诊为 BE/CE。在 16 名有产前怀疑 BE/CE 的转诊中，有 5 名选择终止妊娠。在 20 周的扫描中，仅能识别出 3/16 例胎儿的性别。
只有四分之一出生的 BE/CE 患儿接受了产前诊断。提高放射技师对该病的认识，并在可疑发现时促进由专业胎儿管理单位进行进一步扫描，对于提高检出率至关重要。产前诊断可能不可靠，在 20 周扫描中难以识别性别会增加产前咨询的复杂性。磁共振成像和染色体核型分析可能提供额外的有用信息。
