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Prenatal Diagnosis of ACTG2 Visceral Myopathy Presented With Fetal Megacystis Identified in the Second Trimester.
Prenat Diagn
January 2025
Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.
Variants of the ACTG2 gene cause autosomal dominant ACTG2 visceral myopathy, a disorder of smooth muscle dysfunction of the bladder and gastrointestinal system. Bladder involvement can behave as fetal megacystis (FM). We report four prenatal cases of ACTG2 visceral myopathy.
View Article and Find Full Text PDFA new spectrum of neonatal urethral pathologies in the era of early vesicoamniotic shunting?
World J Urol
October 2024
Division of Pediatric Surgery, Medical Faculty and University Hospital Cologne, University of Cologne, Cologne, Germany.
Purpose: Intrauterine vesicoamniotic shunting (VAS) was shown to affect survival of male fetuses with megacystis in suspected lower urinary tract obstruction (LUTO). Data on postnatal management are largely lacking. We aim to describe the pathologies diagnosed in children born after vesicoamniotic shunt placement in early pregnancy for megacystis.
View Article and Find Full Text PDFTroubleshooting Tips for Diagnosing Complex Fetal Genitourinary Malformations.
Radiographics
January 2024
From the Department of Radiology and Imaging Sciences, University of Utah Health, 30 N Mario Capecchi Dr, 2nd Floor South, Salt Lake City, UT 84112.
Fetal genitourinary anomalies can present a diagnostic challenge for the radiologist. The absence of a normally located kidney may represent agenesis or be secondary to a fusion or migration abnormality. A dilated renal pelvis should prompt evaluation for a specific cause, including ureteropelvic junction obstruction, reflux, or an obstructed duplicated system.
View Article and Find Full Text PDFCongenital lower urinary tract obstruction with spontaneous fetal bladder rupture due to posterior urethral valves: a case report.
J Med Case Rep
October 2023
Department of Urology, Universitair Ziekenhuis Brussel, Brussels, Belgium.
Background: Congenital lower urinary tract obstruction (LUTO) is a rare but significant condition affecting fetal urinary tract development. LUTO has a range of etiologies, with posterior urethral valves (PUV) being the most common cause. The prenatal diagnosis of LUTO plays a crucial role in recognizing the condition and guiding management decisions.
View Article and Find Full Text PDFPostnatal surgical treatment and complications following intrauterine vesicoamniotic shunting with the SOMATEX® intrauterine shunt. A single center experience.
J Pediatr Urol
October 2023
Division of Pediatric Surgery, Medical Faculty and University Hospital Cologne, University of Cologne, Cologne, Germany.
Article Synopsis
- Intrauterine vesicoamniotic shunting (VAS) significantly improves survival rates for male fetuses with megacystis due to suspected lower urinary tract obstruction (LUTO) but lacks data on postnatal outcomes.
- The study involved a retrospective analysis of 17 male newborns who underwent VAS, focusing on postnatal urethral pathologies and the management of shunt removal.
- Results showed that over half of the patients required surgical removal of the shunt postnatally, with conditions like urethral atresia and posterior urethral valves being common findings in these cases.
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