Purpose or Case Report: Bladder exstrophy (BE), cloacal exstrophy (CE), and "Omphalocele, Exstrophy of the Cloaca, Imperforate Anus, and Spinal Defects Complex" (OEIS) are very rare conditions. They can present in isolation or as part of a spectrum of congenital malformations involving multiple organ systems. The diagnosis can be missed or misidentified during prenatal imaging due in no small part to the rarity and complexity of these conditions. The purpose of this study is to determine whether prenatal referral to specialty centers improves diagnostic accuracy, with the potential to improve patient counseling through a multidisciplinary approach.
Methods & Materials: We conducted a single institution retrospective analysis of the cases of BE, CE, and OEIS complex that were referred to our fetal center over the last 20 years. All patients had ultrasound (US), magnetic resonance imaging (MRI) and counseling by our multidisciplinary team. We compared outside referral diagnosis to results after referral to our center. We further subcategorized the imaging findings on the basis of organ system and type of ventral abdominal wall defect identified. Finally, we obtained longitudinal information regarding the outcomes of patients who were followed by our clinicians after delivery.
Results: A total of 42 women between the age of 25 and 40 presented to our center with on-site fetal assessment falling into the spectrum of BE, CE, or OEIS. The average fetal gestational age at referral was 25.5 +/- 1.9 weeks. 22 of the 42 patients (59%) yielded discordant findings relative to the prior outside imaging which included a new diagnosis, new separate abnormality, or revision of the working diagnosis. We found that 18 of 19 patients (95%) with a fetus demonstrating more than two abnormalities gained additional information upon imaging at our center. 13 patients interrupted the pregnancy or were lost to follow up. Of the 29 infants followed, all were correctly diagnosed at our center as regards the diagnosis of exstrophy type. 7 of the 29 had new findings on postnatal imaging such as a low lying spinal cord and renal ectopia.
Conclusions: Our study suggests that early referral to a specialized pediatric-oriented fetal center in suspected cases of BE, CE, and OEIS has the potential to provide additional critical anatomic information, changing counseling and impacting outcomes.