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Jared Schiff, M.S., Alexandra Bellows, B.S., Ilina Rosoklija, M.P.H., Joseph Borer, M.D..
Boston Children's Hospital, Boston, MA, USA.

BACKGROUND: The diagnosis of bladder exstrophy (BE) presents many challenges to patients, families and healthcare professionals. Prenatal diagnosis of BE affords an opportunity for education and preparation in contrast to newborn diagnosis. We aim to examine the trend of prenatal diagnosis over time at our institution, the prenatal findings associated with a diagnosis of BE, and factors associated with a missed diagnosis of BE on prenatal imaging.
METHODS: An IRB approved database was used to identify all patients with BE who sought care at our institution between October 1994 and December 2013. We recorded data for pre-natal versus post-natal diagnosis including timing of diagnosis, form of imaging used and imaging results. A Chi-square test was used to analyze discrete variables. The trend of prenatal diagnosis over time was examined using simple linear regression. Analyses were performed using STATA (version 13).
RESULTS: Of the 82 patients with BE, 77 patients had prenatal information available in their medical records and were included in our study. Of those, 75 had classic bladder exstrophy, while two had BE in association with other urological anomalies (1 duplicated bladder, 1 covered BE with diphalia). Of the 77 patients, prenatal diagnosis of BE was made in 25 cases (32.5%). Diagnosis was confirmed at a mean gestational age of 22.3 weeks (range 17.9-28.0 weeks). All patients were initially diagnosed by prenatal ultrasound testing. There was no significant difference in the rate of prenatal diagnosis based on gender (p = 0.209). There was no significant association in percentage of patients diagnosed prenatally over time (r squared= 0.0089, p= 0.702,). Of the 52 patients with postnatal diagnosis of BE, 24 (46.2%) had prenatal ultrasound information in their medical chart. 13/24 (54.2%) had a normal prenatal ultrasound by parental report, 8 (33.3%) had at least one abnormal prenatal ultrasound, and 3 (12.5%) had unknown ultrasound results. Abnormal findings included bladder not well visualized (2 patients), possible abdominal wall defect (2), hypospadias/abnormal genitalia (2), and other (2).
CONCLUSIONS: Based on our 19-year experience with the diagnosis of bladder exstrophy, approximately one-third of the patients in our cohort were diagnosed prenatally. We observed no significant change in this trend over time. Over 40% of patients diagnosed postnatally report to have had prenatal ultrasound testing, which indicates that the majority of BE diagnoses are still being undetected on prenatal ultrasonography.

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