A Single-Institutional Experience With Prenatal Diagnosis of Cloacal Exstrophy: Room for Improvement

Abstract

Introduction: A single institutional study characterizes the rate of prenatal diagnosis of cloacal exstrophy (CE) and examines its role on successful primary closures.

Materials and methods: An institutional database of 1485 exstrophy-epispadias patients was reviewed retrospectively for CE patients with confirmed presence/absence of prenatal diagnostics, primary exstrophy closure since 2000, institution of closure, and at least 1 year of follow up following closure.

Results: The cohort included 56 domestic patients and 9 international patients. Overall, 78.6% (n = 44) of domestic patients were prenatally diagnosed while 21.4% (n = 12) were diagnosed postnatally. A positive trend was observed in the rate of prenatal diagnosis across the study period, 56.3%, 84.2%, 88.9% respectively (p = 0.025). Confirmatory fMRI was obtained in 40.9% (n = 18) of prenatally diagnosed cases. Patients diagnosed prenatally were found to be more likely to undergo treatment at exstrophy centers of excellence (72.1% v 33.3%, p = 0.020). Prenatal diagnosis was not predictive of increased rate of successful primary closure (75.6% vs 75.0%; p = 1.00; OR: 1.03, 95% CI: 0.23-4.58). Primary closures undertaken at exstrophy centers of excellence were significantly more likely to be successful compared to outside hospitals (90.9% v 50.0%, p = 0.002).

Conclusions: The rate of prenatal diagnosis of CE in patients referred for management to a high-volume exstrophy center is improving. Despite this improvement, patients continue to be missed in the prenatal period. While prenatal diagnosis offers the ideal opportunity to educate, counsel, and prepare expectant families, patients diagnosed at birth are not disadvantaged in their ability to receive a successful primary closure. Further research should investigate the benefit of patient referral to high-volume exstrophy centers of care to ensure optimal care and outcomes.

Keywords: Cloacal exstrophy; Fetal ultrasound; Imaging.

Fig. 1.

Prenatal diagnosis of cloacal exstrophy patients between 2000 and 2020 compared in 7-year blocks. The rate of prenatal diagnosis demonstrates improvement over time (p = 0.033).