Fetal Megacystis: A New Morphologic, Immunohistological and Embriogenetic Approach

Lidia Puzzo,Rosario Caltabiano,Giuliana Giunta,Antonio Cianci,Lucia Salvatorelli

doi:10.3390/app9235155

Abstract

Congenital anomalies of the kidney and urinary tract (CAKUT) include isolated kidney malformations and urinary tract malformations. They have also been reported in Prune-Belly syndrome (PBS) and associated genetic syndromes, mainly 13, 18 and 21 trisomy. The AA focuses on bladder and urethral malformations, evaluating the structural and histological differences between two different cases of megacystis. Both bladders were examined by routine prenatal ultrasound screening and immunohistochemistry, comparing the different expression of smooth muscular actin (SMA), S100 protein and WT1c in megacystis and bladders of normal control from fetuses of XXI gestational age. Considering the relationship between the enteric nervous system and urinary tract development, the AA evaluated S100 and WT1c expression both in bladder and bowel muscular layers. Both markers were not expressed in the bladder and bowel of PBS associated with anencephaly. In conclusion, megacystis could be considered only a macroscopic definition, concerning the size of the fetal bladder rather than the embryologic origin; it may be a single or multiple malformation; the possible association with the bowel and/or encephalic malformations will decide the outcome and prognosis in fetal megacystis.

Highlights

Congenital anomalies of the kidney and urinary tract (CAKUT) are the most common congenital malformations, with a frequency of 3–6 per 1000 live births
CAKUT have been reported in Prune-Belly syndrome (PBS) and associated genetic syndromes, mainly 13, 18 and 21 trisomy [1]
We aimed to evaluate the structural and histological differences between two megacystis by routine prenatal ultrasound screening in the Obstetrical and Gynecological Clinic, University of diagnosed by routine prenatal ultrasound screening in the Obstetrical and Gynecological Clinic, Catania, Italy, and examined in the Pathologic Anatomy Section of G.F

Summary

Introduction

Congenital anomalies of the kidney and urinary tract (CAKUT) are the most common congenital malformations, with a frequency of 3–6 per 1000 live births. They include: isolated kidney malformations (agenesis, hypo-dysplasia, multicystic renal disease, ureteropelvic junction obstruction) and urinary tract malformations (megaureters, megacystis, posterior urethral valve (PUV), urethral atresia/obstruction, urogenital sinus and cloacal malformations, obstructive ureterocele). The fetal bladder may be viewed and evaluated by ultrasound from the 12th gestational week, as a pelvic, oval, anechogen structure less than 6 mm of sagittal diameter. An increased sagittal diameter of the fetal bladder has been considered as megacystis, regardless of etiologic factors and macroscopic features. Prenatal megacystis may be considered mainly an ultrasound diagnosis [1,2]

Objectives

Methods

Results

Conclusion