Extraordinary Bulging Mass in the Foetus - A Case Report of Bladder Exstrophy

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Abstract

INTRODUCTION: Prenatal diagnosis of bladder exstrophy is extremley rare and difficult. BACKGROUND: Due to abnormal development of the cloacal membrane there is an incomplete closure of the lower abdominal wall, absence of the anterior wall of the bladder and external exposition of the posterior wall. The pubic bones are usually separated, the umbilical cord low inserted and there is abnormal external genitalia development. CASE REPORT: At 21st week of gestation of 39-year-old multigravida multipara referred by a primary care obstetrician to high-specialised centre for a detailed ultrasound examination with a suspicion of bladder absence and inferior umbilical localisation. At 29 weeks of gestation presence of bulging mass of 2 cm, between the umbilical outlet and labia was detected. At 31 weeks of gestation previously detected structure among thighs had 3 cm diameter with lateral umbilical outlet. Major labia were prominent and minor labia were within normal limits. Between two umbilical arteries with an appropriate intraabdominal course there were no transsonic area corresponding to the urinary bladder. The newborn baby was born at term in a good condition, but with an exposed bladder of 4 cm in diameter. The urethral outlet was not visualised and the female genitals were abnormal. After a month the girl underwent primary bladder exstrophy closure. Although she suffers from recurring urinary tract infections, she is in a good general condition. CONCLUSIONS: Due to prenatal diagnostics it was possible to detect and make an initial diagnosis of severe malformation. Early diagnosis allowed to prepare parents for a newborn with a defect and teach them how to take care of the baby.

1. Reinfeldt Engberg G, Mantel A, Fossum M, Nordenskjold AG. Maternal and fetal risk factors for bladder exstrophy: a nationwide Swedish case-control study. J Pediatr Urol 2016; 12:304.e1-304.e7.

2. Gambhir L, Holler T, Muller M, et al. Epidemiological survey of 214 families with bladder exstrophy-epispadias complex. J Urol2008; 179: 1539-1543.

3. Siffel C, Correa A, Amar E, et al. Bladder exstrophy: an epidemiologic study from the International Clearinghouse for Birth Defects Surveillance and Research, and an overview of the literature. Am J Med Genet C Semin Med Genet2011; 157C:321-332.

4. Felberg K., Baka-Ostrowska M., Sprawozdanie z 3rd International Symposium on The Extrophy - Epispadias Complex. Baltimore, 14-15 października 2009r. Przegląd Urologiczny 2010/11/1(59).

5. Khandelwal M, Coyman RC, Barahona O, Schmitt R, Reece EA. Early prenatal diagnosis of bladder exstrophy: case report and review of the literature. Fetal Diagn Ther 1996; 11:146-149.

6. Mirk P, Calisti A, Fileni A. Prenatal sonographic diagnosis of bladder extrophy. J Ultrasound Med1986; 5:291-293.

7. Gearhart JP, Ben-Chaim J, Jeffs RD, Sanders RC. Criteria for the prenatal diagnosis of classic bladder exstrophy. Obstet Gynecol 1995; 85: 961-964.

8. Lee EH, Shim JY. New sonographic finding for the prenatal diagnosis of bladder exstrophy: a case report. Ultrasound Obstet Gynecol 2003; 21:498-500.

9. Cacciari A, Pilu G L, Mordenti M, Luca P, Ceccarelli P L, Ruggeri G. Prenatal Diagnosis of Bladder exstrophy: What Counseling?. J Urol. 1999 Jan;161(1):259-61; discussion 262.

10. Goldstein I, Shalev E, Nisman D. The dilemma of prenatal diagnosis of bladder exstrophy: a case report and a review of the literature. Ultrasound Obstet Gynecol 2001; 17:357-359.

11. Goyal A, Fishwick J, Hurrell R, Cervellione RM, Dickson AP. Antenatal diagnosis of bladder/cloacal exstrophy: challenges and possible solutions. J Pediatr Urol 2012; 8:140-144.

12. Uludag S, Guralp O, Akbas M, Aydin Y, Sen C, Uludag S. Bladder exstrophy. FetalPediatr Pathol 2012;31:225-229.

13. Rosati P, Guariglia L. Transvaginal sonographic assessment of the fetal urinary tract in early pregnancy. Ultrasound Obstet Gynecol 7:95-100, 1996.

14. Wiesel A, Queisser-Luft A, Clementi M, Bianca S, Stoll C, EUROSCAN Study Group. Prenatal detection of congenital renalmalformations byfetal ultrasonographic examination: An analysis of 709,030 births in 12 European countries. European Journal of Medical Genetics 48:131-44, 2005.

15. Ives E. Coffey R. Carter CO: A family study of bladder exstrophy. J Med Genet 1980:17(2): 139-141.

16. Fishel-Bartal M, Perlman S, Messing B, Bardin R, Kivilevitch Z, Achiron R, Gilboa Y. Early Diagnosis of Bladder Exstrophy: Quantitative Assessment of a Low-Inserted Umbilical Cord. J Ultrasound Med. 2017 Sep;36(9):1801-1805. doi:

17. Stec AA. Embryology and bony and pelvic fl oor anatomy in the bladder exstrophy-epispadiascomplex. Semin Pediatr Surg 2011; 20:66-70.

18. Kolar Venkatesh SK, Mammen A, Varma KK. Pathogenesis of bladder exstrophy:a new hypothesis. J Pediatr Urol 2015; 11:314-318.

19. Strzelecka I, Michalska E, Zych-Krekora K, Respondek- Liberska M. Follow-up on 107 fetuses with normal US + Echo after 37th week of gestation. Prenat Cardio 2017 Jan; 7(1):26-30

20. Strzelecka I, Słodki M, Płużańska J, Moszura T, Węgrzynowski J, Respondek-Liberska M. Routine third trimester fetal cardiac evaluation: time for consideration. Prenat Cardio. 2015 Sep; 5(3):18-23. doi 10.12847/09154.

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