Parallel Meeting on Thursday 4, September 2025, 15:25 - 16:00
15:25 - 15:28
S21-1 (OP)
Yesica QUIROZ MADARRIAGA 1, Juan PARRA 2, Obdulia ALEJOS 2, Benjamin RODRIGUEZ-SANTIAGO 3, Clara SERRA-JUHE 3, Rocio JIMENEZ 1, Juan Carlos OSORIO 1 and Anna BUJONS 1
1) Fundacio Puigvert, Paediatric Urology, Barcelona, SPAIN - 2) Hospital de la Santa Creu i Sant Pau, GYNECOLOGY AND OBSTETRICS, Barcelona, SPAIN - 3) Hospital de la Santa Creu i Sant Pau, GENETICS, Barcelona, SPAIN
PURPOSE
Fetal anomalies have long been associated with genomic imbalances. Microdeletions and microduplications in clinically significant regions contribute to specific genetic syndromes. In prenatal samples with a normal karyotype, chromosomal microarray analysis (CMA) detects pathogenic deletions or duplications in ~1% of structurally normal pregnancies and 6% of those with anomalies (Levy et al. Fertil Steril 2018;109:201–12). Due to its higher diagnostic yield, CMA is recommended as the first-tier test for evaluating fetuses with major structural abnormalities. This study aims to determine the prevalence of urological anomalies in prenatal follow-up and the proportion of pathological CMA findings within this subpopulation.
MATERIAL AND METHODS
A prospective database of gestations with urinary tract (UT) malformations has been maintained since 2012. In 2015, institutional protocols incorporated CMA for fetuses with ≥2 ultrasound anomalies or severe morphological alterations. Maternal demographics, gestational age, ultrasound findings, karyotype, and CMA results were analyzed. A descriptive statistical analysis was performed, including prevalence calculation.
RESULTS
From January 2015 to December 2024, 17,059 gestations were monitored, identifying 159 urinary tract anomalies via ultrasound (prevalence: 0.93%). The most common findings were hydronephrosis (66.7%), pelvic kidney (11.9%), multicystic renal dysplasia (5%), and renal agenesis (5%). Other anomalies included hypospadias, megacystis, and exstrophy. 35 patients met the criteria for CMA and accepted testing, with one performed postnatally, later confirmed as Fraser syndrome through exome sequencing. CMA detected a pathogenic terminal trisomy 2p (2.9%), with two uncertain results, increasing the potential detection rate to 8.6%. In one case of polycystic kidney disease, CMA was normal, but exome sequencing identified a pathogenic NPHP3 mutation.
CONCLUSIONS
The prevalence of urological abnormalities detected prenatally in our population is lower than reported in the literature, as is the detection rate of significant variants through CMA in pregnancies with ultrasound-detected anomalies. Larger multicenter studies are needed to establish the role of CMA in the evaluation of genitourinary malformations.
15:28 - 15:31
S21-2 (OP)
Yannis BONNIN 1, Sarah GARNIER 1, Marie-Pierre GUIBAL 1, Eric DOBREMEZ 2, Aurélie CAZALS 1, Benoit TESSIER 1, Nadège SERVANT 3, Najiba LAHLOU 4, Charles SULTAN 3, Françoise PARIS 3 and Nicolas KALFA 1
1) Hôpital Lapeyronie, CHU Montpellier, Service de Chirurgie Viscérale et Urologique pédiatrique, Montpellier, FRANCE - 2) Hôpital Pellegrin/Enfant, CHU Bordeaux, Service de Chirurgie Infantile, Bordeaux, FRANCE - 3) Hôpital Lapeyronie, CHU Montpellier, Service d'Hormonologie du développement et de la reproduction, Montpellier, FRANCE - 4) LABORATOIRE BPR-AS, Département d'Hormonologie, Pannes, FRANCE
PURPOSE
Prenatal ovarian cysts (POC) require close postnatal follow-up and sometimes surgery in case of complications. Long-term outcome and pubertal development have not been reported in these patients and would be useful to rationalize treatment, follow-up and parental counselling. This study aims to compare pubertal development and plasmatic AMH level of patients with POC compared to healthy controls.
MATERIAL AND METHODS
This prospective case-control study included patients with diagnosis of POC and healthy controls without endocrine disease. Each child underwent a clinical evaluation of pubertal development (Tanner stages, age of onset), a dosage of plasmatic AMH, LH and FSH. Early puberty was defined as thelarche before 9y and late as after 13y.
RESULTS
105 children were included (56 cases). Mean age was 13.8 yearsd. Mean ages of thelarche (10.85 vs 11.04, p=0.630), pubarche (10.96 vs 11.03, p=0.860) and menarche (12.4 vs 12.23, p=0.845) were not different between cases and controls. Neither early (4 vs 2, p=0.643) nor late (2 vs 7,p=0.080) puberty was more frequent in case of POC. Plasmatic AMH was comparable between cases and controls (36.75 vs 39.90, p=0.742), FSH and LH concentrations were not increased in cases (FSH:4.43 vs 3.87, p=0.31; LH: 4.05 vs 3.37, p=0.38), even in ovariectomy group (FSH:4.7 vs 3.94, p=0.23; LH:4.17 vs 3.45, p=0.22).
CONCLUSIONS
Patients with POC develop a normal puberty and have levels of plasmatic AMH and gonadotropic hormones similar to controls. These data are reassuring for the pubertal outcome of these patients and that may alleviate their follow-up, at least for those without ovariectomy.
15:38 - 15:41
S21-3 (OP)
Fernanda REIS 1, Patric TAVARES 1, Renan TIMOTEO DE OLIVEIRA 1, Antonio GORGEN 1, Maria Eduarda LIMA 2, Leonardo FRAGA 1 and Tiago ROSITO 3
1) Reconstructive and Pediatric's Urology Group, Hospital de Clínicas of Porto Alegre, Porto Alegre, Brazil, Urology, Porto Alegre, BRAZIL - 2) Reconstructive and Pediatric's Urology Group, Hospital de Clínicas of Porto Alegre, Porto Alegre, Brazil, Pediatric Surgery, Porto Alegre, BRAZIL - 3) Federal University of Rio Grande do Sul - Hospital de Clinicas de Porto Alegre - Brasil, Urology, Porto Alegre, BRAZIL
PURPOSE
Neurogenic bowel is a condition resulting from malformations in nervous system pathways, commonly associated with myelomeningocele. This condition often manifests symptoms such as constipation and fecal incontinence. Myelomeningocele presents significant neurological challenges, and antenatal surgery has been proposed to improve outcomes, particularly in the orthopedic and neurological domains. While some studies report some improvements in bladder function, evidence regarding its impact on bowel function remains limited.
MATERIAL AND METHODS
This prospective cohort study evaluates bowel symptoms in patients aged 4 to 18 years, with a focus on assessing fecal continence in the pediatric population. We included 75 patients, 16 of whom had undergone antenatal surgery.
RESULTS
The majority of patients had lumbar and sacral lesions. In the postnatal surgery group, 92.8% of patients experienced either constipation or fecal incontinence, with 7.2% remaining asymptomatic. In contrast, 18.2% of patients in the fetal surgery group were asymptomatic, indicating that the likelihood of being asymptomatic more than doubled in the antenatal group. Additionally, urinary tract infections (UTIs) were more common in patients with bowel symptoms in both groups. In the antenatal surgery group, 31% of patients were non-ambulatory, compared to 47% in the post-natal surgery group, where mobility impairments may further exacerbate bowel symptoms.
CONCLUSIONS
This study represents an initial analysis within a larger cohort of myelomeningocele patients treated at our institution in Brazil. Neurogenic bowel dysfunction remains underrecognized and undertreated worldwide in this patient population, despite its significant impact on both quality of life and bladder function. The initial findings give us some hope regarding bowel function improvement in antenatal repair to be confirmed in the future.
15:41 - 15:44
S21-4 (OP)
Antonin PROUZA 1, Luca MAZZONE 1, Beth PADDEN 2, Ueli MÖHRLEN 3 and Maya HORST 1
1) Children's University Hospital Zurich, Urology, Zurich, SWITZERLAND - 2) Children's University Hospital Zurich, Rehabilitation, Zurich, SWITZERLAND - 3) Children's University Hospital Zurich, Pediatric Surgery, Zurich, SWITZERLAND
INTRODUCTION
This study aimed to re-assess the urological outcomes of patients at five years of age who underwent open prenatal spina bifida aperta repair (OPSBAR) at our institution. Our earlier results have confirmed a decreased incidence of neurogenic lower urinary tract dysfunction (nLUTD) in children with OPSBAR.
PATIENTS AND METHODS
Patients with OPSBAR were subjected to a standardised follow-up protocol. We retrospectively reviewed the urological outcomes including continence status, need for clean intermittent catheterisation (CIC), use of anticholinergics, and the urodynamic findings collected in a RedCap database. We defined normal bladder function as the absence of detrusor overactivity and incontinence during filling cystometry and the presence of voluntary micturition at capacity with a normal voiding pattern, with no evidence of detrusor-sphincter-dyssynergia or elevated post-void residual during urodynamic testing including uroflowmetry.
RESULTS
A total of 91 patients (age 5 - 13 years) were included in the study. Twenty-two percent (20/91) of patients had normal bladder function during their routine urology follow-up based on the result of their urodynamic assessment. All patients with normal bladder function exhibited spontaneous micturition, with 60% (12/20) being fully continent, 30% (6/20) requiring diapers at night, and 10% (2/20) not yet fully toilet trained and using diapers during the day. CIC was regularly performed by 70% of patients (64/91), and 45% (41/91) required anticholinergic therapy, all of whom also performed CIC. A subgroup analysis showed a higher percentage of normal bladder function in patients born after 2018 (35% vs. 12%, p<0.05).
CONCLUSION
In our cohort, we were able to demonstrate that 22% of patients with OPSBAR exhibit normal bladder function at the age of five. Compared to the available data on the incidence on nLUTD in patients with postnatal repair of spina bifida, this finding clearly reaffirms the favourable urological outcomes of prenatal intervention.
15:44 - 15:47
S21-5 (OP)
Lianne PICKETT 1, Ganesh VYTHILINGAM 1, Kevin CAO 2, Neetu KUMAR 1, Dominic THOMPSON 3, Paolo DECOPPI 2, Jan DEPREST 4, Divyesh DESAI 1 and Nav JOHAL 1
1) Great Ormond Street Hospital for Children, Paediatric Urology, London, UNITED KINGDOM - 2) Great Ormond Street Hospital for Children, Paediatric Surgery, London, UNITED KINGDOM - 3) Great Ormond Street Hospital for Children, Paediatric Neurosurgery, London, UNITED KINGDOM - 4) University Hospitals Leuvan, Obstetrics and Gynaecology, Leuvan, BELGIUM
PURPOSE
The urological benefits of antenatal versus postnatal myelomeningocele (MMC) repair remain unclear due to variabilities in clinical management and study design. This study compares urological outcomes in patients who underwent antenatal layered anatomical repair versus postnatal repair, managed with a consistent proactive risk-stratified protocol at a single centre.
MATERIAL AND METHODS
We analysed a prospective database of MMC patients managed antenatally and postnatally at our institution's neurogenic bladder service (2018–2024). The Management of Myelomeningocele Study (MOMS) inclusion/exclusion criteria (e.g. confirmed Chiari II malformation on prenatal ultrasound) was subsequently applied to the postnatal group to minimise confounding variables.
RESULTS
A total of 66 MMC patients underwent repair, with 19 (58% female; median age 4 years; median follow-up 4 years) receiving antenatal repair and 47 receiving postnatal repair. After applying MOMS criteria, 16 patients were matched for comparison (69% female; median age 5 years; median follow-up 5 years). Urological outcomes are summarised in Table 1. Statistical analysis utilised Fisher's exact test.
|
Outcome |
Antenatal |
Postnatal |
P value |
|
Hydronephrosis |
11%(2/19) |
50%(8/16) |
0.06 |
|
Vesicoureteral reflux |
16%(3/19) |
31%(5/16) |
0.43 |
|
Renal scarring (DMSA) |
11%(2/19) |
19%(3/16) |
0.65 |
|
UTI |
21%(4/19) |
44%(7/16) |
0.18 |
|
CIC |
63%(12/19) |
81%(13/16) |
0.29 |
CONCLUSIONS
Contrary to recent reports, our initial follow-up results suggest potential benefits to renal function from antenatal treatment of MMC. Establishing a rigorous urodynamics monitoring programme will further assess the impact of antenatal treatment on urological disorders in children with MMC.