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Prenatal Diagnosis of Bladder Exstrophy: Have We Shifted the Diagnostic Curve?

By: Ted Lee, MD, MSc, Boston Children’s Hospital, Harvard Medical School, Massachusetts | Posted on: 08 Nov 2024

Two recent studies reported remarkably similar rates of prenatal diagnosis for classic bladder exstrophy: 47% (73/155) and 48% (134/280).1,2 Both studies included data gathered since 2000 from relatively high-volume, quaternary referral centers within the US. Prior studies using data from the UK health care system reported prenatal diagnosis rates of 10% and 25%.3,4 These diagnostic rates are surprisingly low considering the high test sensitivity of the prenatal sonographic features of bladder exstrophy.1 In other words, in a fetus affected by bladder exstrophy, there is a high likelihood that the prenatal sonograph will include at least one finding of nonvisualized bladder, lower abdominal wall mass/bulge, low umbilical insertion, pubic diastasis, and/or diminutive genitalia in males.5

Although the value of a prenatal diagnosis may be questioned given the lack of fetal interventions available, a timely diagnosis prior to birth is an extremely important component of bladder exstrophy care that can influence outcomes. A prenatal diagnosis affords families sufficient time to find experienced centers, generate a care plan, and coordinate the logistics involving postnatal care (ie, financial, travel, lodging). It has been demonstrated that the timing of diagnosis does influence whether surgical care is provided at an Association for the Bladder Exstrophy Community–designated center of excellence.2 Furthermore, a complex congenital diagnosis can be particularly stressful and emotionally traumatic for parents. The association between parental mental health and the health outcomes of children is well established. A prenatal diagnosis may allow tailored psychological support available at maternal fetal medicine centers. This is in stark contrast to a postnatal diagnosis made in the delivery room, which causes confusion and anxiety for all parties involved, often resulting in an unnecessary transfer to the neonatal intensive care unit or, in worst-case scenarios, hasty closure by an inexperienced surgeon and care team.

A notable finding from both US studies was an improved diagnosis rate over a 20-year period.1,2 The improved prenatal diagnosis rate may be secondary to a significant increased utilization trend of repeat prenatal ultrasound within the US and perhaps evolving ultrasound technology.6 Repeat examination of the pelvis likely provides technicians additional opportunities to examine the bladder, which cycles on average every 90 minutes.7 The dynamic nature of the normal fetal micturition cycle is a likely barrier to improving prenatal diagnosis rate of bladder exstrophy. However, a persistently empty/absent bladder within the pelvis after 15 weeks is considered abnormal, and pediatric urologists have a responsibility to work with referring maternal fetal medicine providers and their radiology team to spread awareness about the importance of rescanning fetuses in which the bladder is found to be empty.8

We hope that the increasing utilization of prenatal ultrasonography and our effort to improve awareness of this condition among radiologists and ultrasound technicians will build upon the current rising trend of prenatal bladder exstrophy diagnosis, thus allowing caregivers to be optimally prepared for the birth and postnatal care of the affected child.

  1. Hirsch AM, Morrill CC, Haffar A, et al. Optimizing prenatal diagnosis and referral of classic bladder exstrophy: lessons from a single-institution experience. J Pediatr Urol. 2024;20(4):619-627. doi:10.1016/j.jpurol.2024.02.014
  2. Lee T, Weiss D, Roth E, et al. Prenatal diagnosis of bladder exstrophy and OEIS over 20 years. Urology. 2023;172:174-177. doi:10.1016/j.urology.2022.11.020
  3. Jayachandran D, Bythell M, Platt MW, Rankin J. Register based study of bladder exstrophy-epispadias complex: prevalence, associated anomalies, prenatal diagnosis and survival. J Urol. 2011;186(5):2056-2060. doi:10.1016/j.juro.2011.07.022
  4. Goyal A, Fishwick J, Hurrell R, Cervellione RM, Dickson AP. Antenatal diagnosis of bladder/cloacal exstrophy: challenges and possible solutions. J Pediatr Urol. 2012;8(2):140-144. doi:10.1016/j.jpurol.2011.05.003
  5. Gearhart JP, Ben-Chaim J, Jeffs RD, Sanders RC. Criteria for the prenatal diagnosis of classic bladder exstrophy. Obstet Gynecol. 1995;85(6):961-964. doi:10.1016/0029-7844(95)00069-4
  6. O’Keeffe DF, Abuhamad A. Obstetric ultrasound utilization in the United States: data from various health plans. Semin Perinatol. 2013;37(5):292-294. doi:10.1053/j.semperi.2013.06.003
  7. Stigter RH, Mulder EJH, Visser GHA. Hourly fetal urine production rate in the near term fetus: is it really increased during fetal quiet sleep?. Early Hum Dev. 1998;50(3):263-272. doi:10.1016/S0378-3782(97)00049-2
  8. Dias T, Sairam S, Kumarasiri S. Ultrasound diagnosis of fetal renal abnormalities. Best Pract Res Clin Obstet Gynaecol. 2014;28(3):403-415. doi:10.1016/j.bpobgyn.2014.01.009

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